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)
		ClinVar version: 2024-03-31

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
13553	14451	44	3388	4458	46	821	8102

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	affects	drug response	likely risk allele	uncertain risk allele	other
	pathogenic	28	1335	98	3	2	15	20	0	0	0
	likely pathogenic	417	13	129	0	1	0	1	0	0	0
	uncertain significance	262	361	1	2581	347	0	0	1	3	1
	likely benign	14	13	1134	1	730	0	0	0	1	0
	benign	23	12	440	906	1	0	0	1	1	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
Invitae	0	12764	0	1009	2733	3	342	4087
Illumina Laboratory Services, Illumina	0	3030	0	568	1257	0	45	1870
Counsyl	0	1198	0	868	77	0	90	1035
Genome-Nilou Lab	0	2646	0	296	200	0	11	507
Baylor Genetics	0	1705	0	198	21	0	124	343
Fulgent Genetics, Fulgent Genetics	0	2085	0	203	92	0	4	299
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1738	1	97	8	0	32	138
Mendelics	0	369	0	78	40	0	17	135
Revvity Omics, Revvity	0	774	0	73	47	0	13	133
Ambry Genetics	0	390	0	28	86	0	7	121
OMIM	0	658	0	45	7	15	27	94
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	575	0	61	22	0	3	86
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	2	12	61	0	0	9	82
Myriad Genetics, Inc.	0	331	0	58	8	0	12	78
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	222	0	43	11	0	9	63
LDLR-LOVD, British Heart Foundation	0	57	0	29	16	0	17	62
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	0	38	0	21	3	0	31	55
PreventionGenetics, part of Exact Sciences	0	167	0	27	25	0	2	54
Genetic Services Laboratory, University of Chicago	0	90	0	29	17	0	5	51
Color Diagnostics, LLC DBA Color Health	0	167	0	28	17	0	4	49
Institute of Human Genetics, University of Leipzig Medical Center	0	100	0	23	9	0	11	43
GeneDx	0	275	0	22	18	0	2	42
Eurofins Ntd Llc (ga)	0	186	0	13	24	0	5	42
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	240	0	31	7	0	0	38
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix	0	18	0	20	5	0	10	35
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	136	0	25	8	0	1	34
CeGaT Center for Human Genetics Tuebingen	0	82	0	19	10	0	3	32
GeneReviews	0	440	29	0	0	0	2	31
Sema4, Sema4	0	119	0	13	16	0	0	29
Robarts Research Institute, Western University	0	17	0	24	2	0	2	28
Clinical Biochemistry Laboratory, Health Services Laboratory	0	41	0	8	17	0	2	27
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	78	0	25	2	0	0	27
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	10	0	11	13	0	3	27
SIB Swiss Institute of Bioinformatics	0	28	0	21	5	0	0	26
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	32	0	6	18	0	1	25
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	106	0	20	0	0	5	25
MGZ Medical Genetics Center	0	94	0	17	3	0	4	24
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	56	0	10	7	0	7	24
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	83	0	15	5	0	4	24
Leiden Open Variation Database	0	39	0	6	5	0	13	24
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation	0	13	0	15	3	0	4	22
ClinGen ACADVL Variant Curation Expert Panel, ClinGen	0	25	0	17	1	0	4	22
PharmGKB	0	0	0	0	0	21	0	21
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	42	0	19	2	0	0	21
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	0	19	0	4	10	7	0	21
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	0	21	0	5	11	0	4	20
Pars Genome Lab	0	100	0	12	8	0	0	20
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	155	0	11	1	0	7	19
New York Genome Center	0	75	0	2	15	0	2	19
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	0	32	0	6	0	0	12	18
Yale Center for Mendelian Genomics, Yale University	0	2	0	14	0	0	3	17
3billion	0	178	0	14	0	0	3	17
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	0	28	0	5	7	0	4	16
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	58	0	15	1	0	0	16
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	0	72	0	7	4	0	5	16
ClinGen PAH Variant Curation Expert Panel	0	118	0	11	2	0	3	16
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	54	0	14	1	0	0	15
Fundacion Hipercolesterolemia Familiar	0	21	0	5	5	0	4	14
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	0	16	0	12	1	0	1	14
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	45	0	6	1	0	7	14
Genomics England Pilot Project, Genomics England	0	16	0	13	1	0	0	14
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	108	0	11	0	0	2	13
Mayo Clinic Laboratories, Mayo Clinic	0	120	0	5	5	0	3	13
Division of Human Genetics, Children's Hospital of Philadelphia	0	29	0	9	2	0	2	13
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	47	0	10	0	0	3	13
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel	0	75	0	3	3	0	7	13
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel	0	46	0	7	5	0	1	13
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	46	0	6	2	0	4	12
Elsea Laboratory, Baylor College of Medicine	0	4	0	3	8	0	1	12
Quest Diagnostics Nichols Institute San Juan Capistrano	0	111	0	8	1	0	3	12
Genetics and Molecular Pathology, SA Pathology	0	66	0	10	1	0	1	12
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	24	0	8	0	0	4	12
Centogene AG - the Rare Disease Company	0	57	0	5	2	0	4	11
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	41	0	8	0	0	3	11
Cardiovascular Biomarker Research Laboratory, Mayo Clinic	0	7	0	4	6	0	1	11
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	17	0	10	0	0	1	11
Iberoamerican FH Network	0	14	0	5	3	0	3	11
SingHealth Duke-NUS Institute of Precision Medicine	0	9	0	6	3	0	2	11
Johns Hopkins Genomics, Johns Hopkins University	0	67	0	3	6	0	2	11
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia	0	22	0	7	1	0	3	11
Giacomini Lab, University of California, San Francisco	0	31	0	4	2	0	5	11
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	42	0	8	1	0	1	10
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital	0	22	0	4	3	0	2	9
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	0	27	0	7	0	0	2	9
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	0	49	0	7	0	0	2	9
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	71	0	2	5	0	2	9
Molecular Biology Laboratory, Fundació Puigvert	0	10	0	7	0	0	2	9
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	16	0	8	0	0	0	8
Department of Pathology and Laboratory Medicine, Sinai Health System	0	14	0	0	8	0	0	8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	24	0	5	0	0	2	7
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	29	0	1	3	0	3	7
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	0	25	0	5	2	0	0	7
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics	0	68	0	2	0	0	5	7
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul	0	4	0	6	0	0	1	7
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II	0	10	0	6	0	0	1	7
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	8	0	5	0	0	1	6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	0	36	0	2	3	0	1	6
Clinical Genetics, Academic Medical Center	0	10	0	2	4	0	0	6
CSER _CC_NCGL, University of Washington	0	5	0	2	4	0	0	6
Institute for Integrative and Experimental Genomics, University of Luebeck	0	0	0	3	0	0	3	6
NIHR Bioresource Rare Diseases, University of Cambridge	0	8	0	5	0	0	1	6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	40	0	5	0	0	1	6
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	0	16	0	3	0	0	3	6
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen	0	10	0	5	1	0	0	6
CFTR-France	0	25	0	2	0	0	4	6
Lifecell International Pvt. Ltd	0	15	0	4	0	0	2	6
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine	0	1	0	2	1	0	3	6
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen	0	14	0	4	1	0	1	6
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	10	0	3	1	0	1	5
Sharon lab, Hadassah-Hebrew University Medical Center	0	21	0	3	0	0	2	5
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	0	17	0	3	0	0	2	5
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,	0	1	0	1	0	0	4	5
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	31	0	0	0	0	4	4
Inherited Neuropathy Consortium	0	5	0	0	0	0	4	4
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital	0	9	0	3	1	0	0	4
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	0	3	0	2	1	0	1	4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	16	0	1	3	0	0	4
Suma Genomics	0	6	0	1	0	0	3	4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	54	0	3	0	0	1	4
Athena Diagnostics Inc	0	102	0	3	0	0	0	3
Genome Diagnostics Laboratory, The Hospital for Sick Children	0	52	0	1	2	0	0	3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	0	16	0	1	2	0	0	3
Albrecht-Kossel-Institute, Medical University Rostock	0	2	0	0	1	0	2	3
Hadassah Hebrew University Medical Center	0	6	0	1	0	0	2	3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	24	0	1	2	0	0	3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	5	0	2	0	0	1	3
Daryl Scott Lab, Baylor College of Medicine	0	7	0	1	0	0	2	3
Phosphorus, Inc.	0	22	0	1	2	0	0	3
Ocular Genomics Institute, Massachusetts Eye and Ear	0	17	0	1	0	0	2	3
ClinGen Hearing Loss Variant Curation Expert Panel	0	13	0	1	1	0	1	3
Reproductive Health Research and Development, BGI Genomics	0	26	0	3	0	0	0	3
DASA	0	40	0	2	0	0	1	3
Baumgartner lab, University Children's Hospital Zurich	0	7	0	1	0	0	2	3
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen	0	5	0	3	0	0	0	3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	0	0	0	1	1	0	0	2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	8	0	2	0	0	0	2
Institute of Human Genetics, University of Goettingen	0	0	0	1	0	0	1	2
Molecular Genetics Laboratory, Institute for Ophthalmic Research	0	3	0	1	0	0	1	2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	0	18	0	1	0	0	1	2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital	0	19	0	2	0	0	0	2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	0	5	0	2	0	0	0	2
CFTR2	0	39	0	0	2	0	0	2
Inserm U 954, Faculté de Médecine de Nancy	0	1	2	0	0	0	0	2
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela	0	0	0	1	0	0	1	2
UCLA Clinical Genomics Center, UCLA	0	0	0	2	0	0	0	2
Service de Génétique Moléculaire, Hôpital Robert Debré	0	2	0	1	0	0	1	2
University Children's Hospital, University of Zurich	0	3	0	2	0	0	0	2
Centre for Human Genetics	0	3	0	2	0	0	0	2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	2	0	1	0	0	1	2
Medical Genetics, University of Parma	0	1	0	0	1	0	1	2
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	0	11	0	1	0	0	1	2
Institute of Human Genetics, University Hospital of Duesseldorf	0	6	0	1	1	0	0	2
Center for Molecular Medicine, Children’s Hospital of Fudan University	0	6	0	1	0	0	1	2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	15	0	1	0	0	1	2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	0	5	0	2	0	0	0	2
Pediatric Metabolic Diseases, Hacettepe University	0	4	0	2	0	0	0	2
GeneID Lab - Advanced Molecular Diagnostics	0	2	0	1	0	0	1	2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	0	5	0	1	0	0	1	2
Department of Pediatrics, Gifu University	0	6	0	2	0	0	0	2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	0	3	0	0	0	0	2	2
Clinical Genomics Program, Stanford Medicine	0	9	0	0	2	0	0	2
Institute of Human Genetics, University Hospital Muenster	0	9	0	0	1	0	1	2
Molecular Genetics Lab, CHRU Brest	0	2	0	0	1	0	1	2
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	0	0	0	1	1	0	0	2
Sydney Genome Diagnostics, Children's Hospital Westmead	0	5	0	0	1	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
Laboratory of Molecular Genetics, Children's Memorial Health Institute	0	3	0	2	0	0	0	2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital	0	9	0	2	0	0	0	2
Kids Neuroscience Centre, Sydney Children's Hospitals Network	0	3	0	0	1	0	1	2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	8	0	0	0	0	2	2
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology	0	1	0	0	0	0	2	2
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP	0	23	0	1	1	0	0	2
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen	0	21	0	1	0	0	1	2
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences	0	4	0	1	0	0	1	2
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital	0	14	0	1	1	0	0	2
King Laboratory, University of Washington	0	3	0	0	0	0	1	1
Institute of Human Genetics, Cologne University	0	5	0	1	0	0	0	1
SNPedia	0	4	0	1	0	0	0	1
Blueprint Genetics	0	8	0	1	0	0	0	1
IIFP, CONICET-UNLP	0	1	0	0	0	0	1	1
Molecular Genetics Laboratory; Baylor College of Medicine	0	0	0	0	1	0	0	1
Center for Genetic Medicine Research, Children's National Medical Center	0	0	0	1	0	0	0	1
Department of Ophthalmology and Visual Sciences Kyoto University	0	3	0	1	0	0	0	1
Pathway Genomics	0	4	0	1	0	0	0	1
Centre for Translational Omics - GOSgene, University College London	0	0	0	1	0	0	0	1
Duke University Health System Sequencing Clinic, Duke University Health System	0	3	0	1	0	0	0	1
National Institute of Mental Health and Neurosciences	0	0	0	0	0	0	1	1
Deafness research group, Biosystems & Integrative Sciences Institute, University of Lisbon	0	0	0	0	1	0	0	1
Laboratory of Human Genetics, Universidade de São Paulo	0	0	0	0	0	0	1	1
University of Washington Center for Mendelian Genomics, University of Washington	0	0	0	0	0	0	1	1
Serv. Biochemistry and Molecular genetics, Hospital Clinic de Barcelona, Hospital Clínic de Barcelona	0	0	0	0	1	0	0	1
UW Hindbrain Malformation Research Program, University of Washington	0	1	0	0	0	0	1	1
Laboratory of Metabolic Disorders, Peking University First Hospital	0	1	0	0	1	0	0	1
Center of Genomic medicine, Geneva, University Hospital of Geneva	0	9	0	1	0	0	0	1
NeuroMeGen, Hospital Clinico Santiago de Compostela	0	0	0	1	0	0	0	1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	0	3	0	0	1	0	0	1
McDonnell Genome Institute, Washington University in St. Louis	0	0	0	0	0	0	1	1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	0	3	0	1	0	0	0	1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	0	4	0	1	0	0	0	1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	0	0	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
Hereditary Research Laboratory, Bethlehem University	0	3	0	1	0	0	0	1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	0	4	0	0	1	0	0	1
Neurology Department, Peking University First Hospital	0	0	0	0	1	0	0	1
Undiagnosed Diseases Network, NIH	0	10	0	0	0	0	1	1
Kariminejad - Najmabadi Pathology & Genetics Center	0	4	0	1	0	0	0	1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital	0	2	0	1	0	0	0	1
Dan Cohn Lab, University Of California Los Angeles	0	0	0	0	0	0	1	1
Institute for Genomic Medicine, Nationwide Children's Hospital	0	1	0	0	0	0	1	1
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust	0	0	0	0	0	0	1	1
Center for Precision Medicine, Vanderbilt University Medical Center	0	0	0	0	1	0	0	1
Biomedical Innovation Departament, CIEMAT	0	5	0	1	0	0	0	1
Tehran Medical Genetics Laboratory	0	0	0	1	0	0	0	1
Cytogenetics and Genomics Laboratory, Medical University of South Carolina	0	1	0	0	0	0	1	1
Uitto Lab, Thomas Jefferson University	0	1	0	1	0	0	0	1
Department of Biotechnology and Microbiology, Karnatak University Dharwad	0	0	0	0	0	0	1	1
Core Molecular Diagnostic Lab, McGill University Health Centre	0	1	0	1	0	0	0	1
Genetic Diseases Diagnostic Center, Koc University Hospital	0	0	0	1	0	0	0	1
Clinical Genetics, Amsterdam Medical Centre	0	0	0	0	1	0	0	1
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre	0	0	0	1	0	0	0	1
Morava/Kozicz Lab, Department of Clinical Genomics, Mayo Clinic	0	0	0	0	0	0	1	1
University of Iowa Renal Genetics Clinic, University of Iowa	0	0	0	0	0	0	1	1
Biochemistry Laboratory of CDMU, Chengde Medical University	0	3	0	0	0	0	1	1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics	0	1	0	0	0	0	1	1
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics	0	1	0	0	0	0	1	1
NxGen MDx	0	0	0	1	0	0	0	1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences	0	0	0	1	0	0	0	1
Human Genetics Section, Sidra Medicine	0	0	0	0	0	0	1	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	0	0	0	0	0	1	1
Istanbul Faculty of Medicine, Istanbul University	0	0	0	0	0	0	1	1
Child Health and Human Development Program, Research Institute of the McGill University Health Center	0	4	0	0	0	0	1	1
International Fanconi Anemia Registry, The Rockefeller University	0	0	0	0	0	0	1	1
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen	0	8	0	1	0	0	0	1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel	0	7	0	1	0	0	0	1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health	0	10	0	0	1	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	3	0	0	0	0	1	1
Refractive Surgery Department, Bright Eye Hospital	0	0	0	1	0	0	0	1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center	0	2	0	1	0	0	0	1
Joe DiMaggio Children's Hospital, Memorial Healthcare System	0	0	0	0	0	0	1	1
Molecular Genetics, Royal Melbourne Hospital	0	14	0	1	0	0	0	1
JKU Lab, Dept of Paediatrics, Johannes Kepler University	0	2	0	0	1	0	0	1
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi	0	0	0	0	0	0	1	1
Molecular Lab, Department of Haematology, Christian Medical College	0	1	0	1	0	0	0	1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University	0	0	0	1	0	0	0	1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology	0	0	0	1	0	0	0	1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town	0	0	0	0	0	0	1	1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital	0	0	0	0	0	0	1	1
Payam Genetics Center, General Welfare Department of North Khorasan Province	0	2	0	1	0	0	0	1
Inherited Neuropathy Consortium Ii, University Of Miami	0	0	0	0	0	0	1	1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University	0	1	0	0	0	0	1	1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg	0	0	0	0	0	0	1	1
Vasylyeva lab, Texas Tech University Health Sciences Center	0	5	0	1	0	0	0	1
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH	0	3	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_012203.2(GRHPR):c.579A>G (p.Ala193=)	rs309458	0.85807
NM_000518.5(HBB):c.315+16G>C	rs10768683	0.82893
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser)	rs757110	0.71935
NM_000152.5(GAA):c.668G>A (p.Arg223His)	rs1042395	0.65662
NM_000492.4(CFTR):c.1408G>A (p.Val470Met)	rs213950	0.56732
NM_000053.4(ATP7B):c.3903+6C>T	rs2282057	0.53754
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_000053.4(ATP7B):c.1216T>G (p.Ser406Ala)	rs1801243	0.41549
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=)	rs1799859	0.39734
NM_000527.5(LDLR):c.1959T>C (p.Val653=)	rs5925	0.37370
NM_000352.6(ABCC8):c.2117-3C>T	rs1799854	0.36733
NM_014363.6(SACS):c.9981T>C (p.Ala3327=)	rs2737700	0.36123
NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=)	rs2301629	0.34968
NM_000527.5(LDLR):c.1773C>T (p.Asn591=)	rs688	0.33392
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	0.23407
NM_014363.6(SACS):c.6195T>C (p.Ile2065=)	rs4143768	0.21785
NM_014363.6(SACS):c.8853T>C (p.Val2951=)	rs9552929	0.21755
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala)	rs17078605	0.21747
NM_014363.6(SACS):c.12304T>C (p.Leu4102=)	rs2737699	0.21736
NM_012144.4(DNAI1):c.1003G>A (p.Val335Ile)	rs11793196	0.20136
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser)	rs2071421	0.19530
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=)	rs1799858	0.16150
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	0.14682
NM_024301.5(FKRP):c.135C>T (p.Ala45=)	rs2287717	0.14031
NM_014363.6(SACS):c.171+6C>T	rs3751368	0.13441
NM_001039958.2(MESP2):c.573G>A (p.Gly191=)	rs113097169	0.13255
NM_000016.6(ACADM):c.-362T>C	rs1251076	0.12826
NM_000030.3(AGXT):c.654G>A (p.Ser218=)	rs33958047	0.12652
NM_001164508.2(NEB):c.11077-4G>T	rs878924060	0.11336
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	0.09206
NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala)	rs61757294	0.08654
NM_014363.6(SACS):c.696T>A (p.Asn232Lys)	rs2031640	0.08558
NM_014363.6(SACS):c.1656A>G (p.Leu552=)	rs1536365	0.08543
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_000091.5(COL4A3):c.1452G>A (p.Gly484=)	rs34019152	0.07474
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=)	rs1800130	0.07467
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	0.06993
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu)	rs2227935	0.06742
NM_000352.6(ABCC8):c.330C>T (p.Ala110=)	rs8192695	0.06691
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=)	rs692003	0.06494
NM_152564.5(VPS13B):c.9331-2A>T	rs74485751	0.06492
NM_002529.4(NTRK1):c.1806-4del	rs1799770	0.06316
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_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.3982A>G (p.Thr1328Ala)	rs9282681	0.05868
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_000016.6(ACADM):c.-401G>A	rs114005461	0.04873
NM_014049.5(ACAD9):c.-44_-41dup	rs387906242	0.04863
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys)	rs77625410	0.04825
NM_012203.2(GRHPR):c.734+9G>A	rs56401536	0.04769
NM_000487.6(ARSA):c.1493G>A (p.Arg498His)	rs6151428	0.04709
NM_130849.4(SLC39A4):c.1141A>G (p.Thr381Ala)	rs75920625	0.04681
NM_000016.6(ACADM):c.-142C>G	rs61124994	0.04520
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys)	rs76275444	0.04436
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly)	rs17154335	0.04399
NM_000492.4(CFTR):c.-8G>C	rs1800501	0.04368
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val)	rs35719359	0.04130
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_000520.6(HEXA):c.1195A>G (p.Asn399Asp)	rs1800430	0.03370
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_004629.2(FANCG):c.1133C>T (p.Ser378Leu)	rs4986939	0.03269
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)	rs35520756	0.03206
NM_000520.6(HEXA):c.9C>T (p.Ser3=)	rs1800428	0.03048
NM_000051.4(ATM):c.3403-15T>A	rs79701258	0.02975
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_004629.2(FANCG):c.890C>T (p.Thr297Ile)	rs2237857	0.02968
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_014363.6(SACS):c.1839G>A (p.Gln613=)	rs35840595	0.02863
NM_201525.4(ADGRG1):c.1460T>C (p.Met487Thr)	rs17379472	0.02860
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg)	rs7334118	0.02828
NM_000135.4(FANCA):c.3348+18A>G	rs1800347	0.02828
NM_130849.4(SLC39A4):c.251C>T (p.Pro84Leu)	rs117535951	0.02765
NM_012144.4(DNAI1):c.1460T>G (p.Val487Gly)	rs11999454	0.02757
NM_000391.4(TPP1):c.381-10dup	rs146315473	0.02726
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_014049.5(ACAD9):c.976G>A (p.Ala326Thr)	rs115532916	0.02662
NM_001142800.2(EYS):c.5977A>G (p.Thr1993Ala)	rs115066356	0.02657
NM_000360.4(TH):c.1401C>T (p.Asp467=)	rs3842724	0.02616
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=)	rs1801248	0.02598
NM_014244.5(ADAMTS2):c.2480G>A (p.Arg827Gln)	rs35445112	0.02575
NM_001142800.2(EYS):c.2157C>T (p.Cys719=)	rs9453148	0.02573
NM_000051.4(ATM):c.1254A>G (p.Gln418=)	rs4987943	0.02542
NM_000466.3(PEX1):c.3439-14_3439-13del	rs150005994	0.02536
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile)	rs17227354	0.02526
NM_152618.3(BBS12):c.1381A>C (p.Asn461His)	rs10027479	0.02523
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys)	rs114234874	0.02502
NM_000051.4(ATM):c.8786+8A>C	rs4986839	0.02488
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr)	rs13408961	0.02475
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser)	rs34885252	0.02454
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met)	rs45500692	0.02436
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala)	rs17078601	0.02418
NM_000151.4(G6PC1):c.432G>A (p.Pro144=)	rs161628	0.02402
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_003060.4(SLC22A5):c.430C>T (p.Leu144Phe)	rs10040427	0.02340
NM_213653.4(HJV):c.929C>G (p.Ala310Gly)	rs7540883	0.02277
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile)	rs76889468	0.02262
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_000170.3(GLDC):c.671G>A (p.Arg224His)	rs28617412	0.02214
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_000051.4(ATM):c.5497-8T>C	rs3092829	0.02183
NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=)	rs73495790	0.02130
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_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_012144.4(DNAI1):c.378A>G (p.Glu126=)	rs3818577	0.02063
NM_001384474.1(LOXHD1):c.966G>C (p.Gly322=)	rs114082868	0.02057
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=)	rs75519005	0.01995
NM_012434.5(SLC17A5):c.1111+7G>A	rs146729568	0.01982
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg)	rs11934801	0.01974
NM_004646.4(NPHS1):c.59-5C>G	rs114595892	0.01945
NM_001142800.2(EYS):c.2733T>C (p.Asn911=)	rs75634595	0.01917
NM_003640.5(ELP1):c.959-15C>T	rs112114410	0.01906
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu)	rs111033381	0.01895
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp)	rs2235000	0.01889
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_000135.4(FANCA):c.755A>G (p.Asp252Gly)	rs17225943	0.01851
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile)	rs35445653	0.01835
NM_012144.4(DNAI1):c.297A>G (p.Gln99=)	rs77344166	0.01778
NM_000070.3(CAPN3):c.78G>A (p.Pro26=)	rs62642519	0.01774
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu)	rs34071195	0.01772
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn)	rs28730701	0.01764
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=)	rs45450893	0.01749
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_005476.7(GNE):c.1770C>T (p.Tyr590=)	rs111302956	0.01688
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)	rs1800095	0.01670
NM_000271.5(NPC1):c.1503C>T (p.Asp501=)	rs116046557	0.01665
NM_000092.5(COL4A4):c.3486A>G (p.Pro1162=)	rs2229815	0.01659
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=)	rs61733619	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_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_000092.5(COL4A4):c.1323T>C (p.Pro441=)	rs35830639	0.01576
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly)	rs17592	0.01574
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_001384474.1(LOXHD1):c.1876G>T (p.Gly626Cys)	rs34589386	0.01503
NM_003659.4(AGPS):c.1173C>G (p.Gly391=)	rs115580413	0.01496
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu)	rs1800362	0.01494
NM_000202.8(IDS):c.641C>T (p.Thr214Met)	rs61736892	0.01492
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)	rs41272687	0.01478
NM_000030.3(AGXT):c.705G>A (p.Thr235=)	rs35977912	0.01476
NM_206933.4(USH2A):c.2109T>C (p.Asp703=)	rs45555435	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_000094.4(COL7A1):c.89C>T (p.Thr30Ile)	rs74453879	0.01453
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_005373.3(MPL):c.117G>T (p.Lys39Asn)	rs17292650	0.01420
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_000051.4(ATM):c.2614C>T (p.Pro872Ser)	rs3218673	0.01393
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp)	rs56038610	0.01377
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=)	rs60824529	0.01375
NM_153006.3(NAGS):c.182A>G (p.Glu61Gly)	rs113134544	0.01375
NM_001384474.1(LOXHD1):c.3269G>A (p.Arg1090Gln)	rs118174674	0.01368
NM_001164508.2(NEB):c.195G>A (p.Pro65=)	rs79524813	0.01367
NM_153676.4(USH1C):c.388G>A (p.Val130Ile)	rs55843567	0.01363
NM_000282.4(PCCA):c.1429+7A>G	rs16957276	0.01356
NM_000092.5(COL4A4):c.4656G>A (p.Met1552Ile)	rs77104306	0.01346
NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile)	rs16883930	0.01342
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.11677C>A (p.Pro3893Thr)	rs41303285	0.01316
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_020320.5(RARS2):c.63A>G (p.Pro21=)	rs7748563	0.01309
NM_000352.6(ABCC8):c.3329+6C>T	rs113873225	0.01304
NM_013339.4(ALG6):c.1357C>G (p.Leu453Val)	rs41285372	0.01295
NM_000352.6(ABCC8):c.2041-28C>T	rs116419577	0.01293
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu)	rs7958709	0.01289
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu)	rs13027659	0.01279
NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser)	rs140578009	0.01275
NM_138694.4(PKHD1):c.1234-5C>T	rs116124750	0.01262
NM_001142800.2(EYS):c.-459C>T	rs144371265	0.01261
NM_000092.5(COL4A4):c.2791G>A (p.Ala931Thr)	rs75875272	0.01243
NM_000092.5(COL4A4):c.2796G>A (p.Lys932=)	rs34591179	0.01236
NM_012203.2(GRHPR):c.509G>A (p.Arg170Gln)	rs12002324	0.01219
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=)	rs111033230	0.01207
NM_001003722.2(GLE1):c.1000G>A (p.Glu334Lys)	rs138310419	0.01201
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr)	rs35727744	0.01194
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu)	rs28364364	0.01193
NM_001370658.1(BTD):c.820A>G (p.Ile274Val)	rs35976361	0.01187
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln)	rs145184792	0.01187
NM_000092.5(COL4A4):c.2717-5A>T	rs1800519	0.01182
NM_000094.4(COL7A1):c.6696C>A (p.Pro2232=)	rs61729223	0.01181
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=)	rs73419228	0.01181
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys)	rs74203920	0.01176
NM_004268.5(MED17):c.1482A>G (p.Gln494=)	rs34380494	0.01172
NM_000128.4(F11):c.-54G>A	rs4253814	0.01170
NM_001142800.2(EYS):c.777G>A (p.Gln259=)	rs78079047	0.01169
NM_138694.4(PKHD1):c.11878G>A (p.Val3960Ile)	rs34548196	0.01161
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=)	rs116091486	0.01159
NM_000352.6(ABCC8):c.1333-1032G>A	rs11821525	0.01157
NM_000070.3(CAPN3):c.2433T>C (p.Val811=)	rs28364543	0.01154
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_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys)	rs41298896	0.01123
NM_001164508.2(NEB):c.3147+5G>A	rs74859201	0.01118
NM_006623.4(PHGDH):c.792+6T>G	rs146953046	0.01118
NM_153676.4(USH1C):c.819+10G>C	rs41282936	0.01105
NM_001360.3(DHCR7):c.570C>T (p.Ala190=)	rs74909468	0.01097
NM_000051.4(ATM):c.735C>T (p.Val245=)	rs3218674	0.01085
NM_002225.5(IVD):c.-48G>A	rs114259808	0.01080
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_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn)	rs78039319	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_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser)	rs2499481	0.01066
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_033159.4(HYAL1):c.270G>C (p.Glu90Asp)	rs74342080	0.01054
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_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_023036.6(DNAI2):c.590A>T (p.Asp197Val)	rs35636875	0.01015
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_206933.4(USH2A):c.11928G>A (p.Thr3976=)	rs55961436	0.01005
NM_000441.2(SLC26A4):c.1002-9A>C	rs10234822	0.01002
NM_000487.6(ARSA):c.624T>C (p.His208=)	rs113990230	0.01000
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)	rs74374973	0.00994
NM_001360.3(DHCR7):c.99-4G>A	rs140748737	0.00988
NM_014363.6(SACS):c.10305T>C (p.Ser3435=)	rs35670472	0.00986
NM_001360.3(DHCR7):c.25A>T (p.Ile9Phe)	rs115595829	0.00983
NM_000391.4(TPP1):c.1044C>T (p.Ala348=)	rs35706972	0.00982
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_002485.5(NBN):c.797C>T (p.Pro266Leu)	rs769420	0.00955
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=)	rs61748766	0.00948
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr)	rs11807956	0.00940
NM_002225.5(IVD):c.88C>T (p.His30Tyr)	rs73383128	0.00938
NM_001164508.2(NEB):c.21044C>G (p.Ser7015Cys)	rs62167164	0.00935
NM_000027.4(AGA):c.1023A>G (p.Glu341=)	rs113407270	0.00929
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_006493.4(CLN5):c.579C>A (p.Asn193Lys)	rs138611001	0.00910
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn)	rs115311625	0.00908
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_024996.7(GFM1):c.127A>G (p.Asn43Asp)	rs35942089	0.00900
NM_000027.4(AGA):c.313C>A (p.Leu105Ile)	rs76491548	0.00896
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=)	rs34541442	0.00893
NM_000310.4(PPT1):c.*3C>A	rs150454815	0.00889
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg)	rs1800746	0.00889
NM_000070.3(CAPN3):c.73C>T (p.His25Tyr)	rs61735534	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_000169.2(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_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_152618.3(BBS12):c.714T>G (p.Asn238Lys)	rs17006082	0.00860
NM_001164508.2(NEB):c.6159G>A (p.Lys2053=)	rs140186806	0.00856
NM_001365088.1(SLC12A6):c.408T>C (p.Phe136=)	rs145186782	0.00836
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp)	rs72563785	0.00830
NM_133259.4(LRPPRC):c.2481A>G (p.Pro827=)	rs115993634	0.00825
NM_201548.5(CERKL):c.677+566G>T	rs10185262	0.00821
NM_005373.3(MPL):c.543T>C (p.Gly181=)	rs17572791	0.00819
NM_133259.4(LRPPRC):c.79C>T (p.Leu27Phe)	rs116727742	0.00819
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn)	rs117983287	0.00817
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)	rs35799469	0.00804
NM_003640.5(ELP1):c.1758T>G (p.Pro586=)	rs35054425	0.00792
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=)	rs116660078	0.00791
NM_000237.3(LPL):c.-283G>T	rs80351041	0.00790
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met)	rs34442879	0.00790
NM_153676.4(USH1C):c.2499C>T (p.Ile833=)	rs34581703	0.00789
NM_001384474.1(LOXHD1):c.2027A>G (p.Asp676Gly)	rs16978578	0.00777
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala)	rs7766366	0.00773
NM_138694.4(PKHD1):c.7110-7T>A	rs113034899	0.00770
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn)	rs114402911	0.00770
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=)	rs140791735	0.00769
NM_000255.4(MMUT):c.-39-26T>A	rs144458425	0.00764
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile)	rs61750974	0.00763
NM_000051.4(ATM):c.544G>C (p.Val182Leu)	rs3218707	0.00757
NM_001201543.2(FAM161A):c.423-7C>T	rs144455077	0.00755
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_015702.3(MMADHC):c.87A>C (p.Lys29Asn)	rs61750442	0.00751
NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=)	rs35963362	0.00745
NM_000642.3(AGL):c.1481G>A (p.Arg494His)	rs141043166	0.00743
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=)	rs111033477	0.00740
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn)	rs61753611	0.00740
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_000243.3(MEFV):c.1503C>T (p.Arg501=)	rs76464258	0.00733
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=)	rs73202048	0.00732
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_001384474.1(LOXHD1):c.1028G>A (p.Arg343His)	rs183531840	0.00717
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu)	rs2229137	0.00715
NM_001164508.2(NEB):c.2832C>T (p.Ser944=)	rs114076205	0.00714
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)	rs1800054	0.00712
NM_000271.5(NPC1):c.2661G>A (p.Pro887=)	rs9949660	0.00711
NM_000170.3(GLDC):c.319A>G (p.Met107Val)	rs138454333	0.00707
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_001201543.2(FAM161A):c.906A>G (p.Gln302=)	rs76110744	0.00702
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val)	rs113562492	0.00702
NM_005609.4(PYGM):c.1092+6dup	rs368602234	0.00700
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys)	rs61731387	0.00699
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser)	rs45501594	0.00688
NM_014363.6(SACS):c.4188C>T (p.His1396=)	rs61754477	0.00688
NM_014363.6(SACS):c.6267G>A (p.Ser2089=)	rs9550956	0.00688
NM_000092.5(COL4A4):c.198A>G (p.Pro66=)	rs147947155	0.00681
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys)	rs187343008	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_004629.2(FANCG):c.988C>T (p.Pro330Ser)	rs4986940	0.00670
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=)	rs7811324	0.00669
NM_001370658.1(BTD):c.585C>T (p.Leu195=)	rs145388314	0.00669
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr)	rs111991705	0.00667
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)	rs45439799	0.00663
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=)	rs1800135	0.00660
NM_000153.4(GALC):c.1788C>T (p.Phe596=)	rs115018138	0.00658
NM_001384474.1(LOXHD1):c.3999C>T (p.Cys1333=)	rs117297079	0.00657
NM_001384474.1(LOXHD1):c.274G>A (p.Val92Ile)	rs115275492	0.00656
NM_000153.4(GALC):c.195+10A>G	rs191767015	0.00653
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_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile)	rs147487242	0.00646
NM_001201543.2(FAM161A):c.1013G>A (p.Arg338Gln)	rs149314387	0.00644
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile)	rs138127778	0.00637
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg)	rs2229020	0.00636
NM_000053.4(ATP7B):c.-54G>T	rs115564351	0.00634
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg)	rs148632988	0.00633
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly)	rs116809571	0.00632
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe)	rs184339274	0.00631
NM_000543.5(SMPD1):c.1625G>A (p.Arg542Gln)	rs113467489	0.00629
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)	rs75548401	0.00627
NM_000282.4(PCCA):c.1846-9G>T	rs141118743	0.00627
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)	rs1800100	0.00625
NM_014297.5(ETHE1):c.-45G>A	rs144136377	0.00621
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	0.00617
NM_012144.4(DNAI1):c.179C>T (p.Ala60Val)	rs16931549	0.00609
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_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly)	rs113671330	0.00608
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe)	rs61749895	0.00606
NM_032520.5(GNPTG):c.255G>A (p.Pro85=)	rs76594024	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_000158.4(GBE1):c.176T>C (p.Ile59Thr)	rs28763904	0.00604
NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu)	rs186758849	0.00601
NM_000070.3(CAPN3):c.984C>T (p.Cys328=)	rs28364441	0.00600
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_000521.4(HEXB):c.1051T>C (p.Leu351=)	rs114661695	0.00596
NM_002529.4(NTRK1):c.2272G>A (p.Ala758Thr)	rs62640939	0.00591
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala)	rs45479896	0.00589
NM_001352514.2(HLCS):c.726C>T (p.Pro242=)	rs2230182	0.00587
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala)	rs56385601	0.00586
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)	rs142645936	0.00585
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_002435.3(MPI):c.982C>T (p.Arg328Trp)	rs117089191	0.00577
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)	rs138036823	0.00577
NM_012144.4(DNAI1):c.1604C>A (p.Thr535Asn)	rs76334696	0.00575
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)	rs34911792	0.00573
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_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)	rs111033282	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_000128.4(F11):c.731A>G (p.Gln244Arg)	rs5969	0.00564
NM_002529.4(NTRK1):c.1728C>T (p.Phe576=)	rs6335	0.00563
NM_000018.4(ACADVL):c.636C>T (p.Ala212=)	rs76547988	0.00560
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_001164508.2(NEB):c.5802C>T (p.Gly1934=)	rs139963368	0.00547
NM_001875.5(CPS1):c.3029C>T (p.Thr1010Met)	rs79627159	0.00546
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser)	rs55638457	0.00545
NM_000057.4(BLM):c.2075-12G>T	rs28385027	0.00541
NM_000049.4(ASPA):c.703G>A (p.Glu235Lys)	rs149842031	0.00537
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr)	rs140916001	0.00537
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=)	rs149796549	0.00535
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_001126108.2(SLC12A3):c.774C>T (p.Asn258=)	rs111578437	0.00523
NM_000137.4(FAH):c.315-14G>A	rs139830755	0.00521
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)	rs147099630	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_000051.4(ATM):c.6088A>G (p.Ile2030Val)	rs145847315	0.00517
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_000260.4(MYO7A):c.4697C>T (p.Thr1566Met)	rs41298747	0.00512
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_000525.4(KCNJ11):c.108G>A (p.Val36=)	rs112070496	0.00509
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_000543.5(SMPD1):c.813T>C (p.Pro271=)	rs61876771	0.00500
NM_002454.3(MTRR):c.288C>T (p.Leu96=)	rs35587995	0.00500
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=)	rs113282901	0.00497
NM_000057.4(BLM):c.615G>A (p.Lys205=)	rs28903082	0.00496
NM_000277.3(PAH):c.820A>G (p.Lys274Glu)	rs142934616	0.00496
NM_000070.3(CAPN3):c.318C>T (p.Cys106=)	rs117609395	0.00495
NM_001360.3(DHCR7):c.99-10G>A	rs189549129	0.00495
NM_000359.3(TGM1):c.365C>T (p.Ser122Leu)	rs141486741	0.00492
NM_000492.4(CFTR):c.1581A>G (p.Glu527=)	rs1800094	0.00491
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)	rs121908954	0.00491
NM_005373.3(MPL):c.1565+5C>T	rs41269541	0.00488
NM_033305.3(VPS13A):c.5979C>T (p.Arg1993=)	rs41289971	0.00487
NM_000243.3(MEFV):c.2163C>T (p.Phe721=)	rs11466047	0.00484
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser)	rs34134328	0.00483
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=)	rs140065359	0.00482
NM_000255.4(MMUT):c.1629C>T (p.Ser543=)	rs150642856	0.00479
NM_018006.5(TRMU):c.387A>G (p.Ala129=)	rs144586525	0.00478
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr)	rs201574732	0.00477
NM_017777.4(MKS1):c.1436G>A (p.Arg479His)	rs111315726	0.00476
NM_152419.3(HGSNAT):c.1250+7G>A	rs74795999	0.00475
NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu)	rs142356700	0.00474
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=)	rs34211419	0.00473
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_001378454.1(ALMS1):c.2764C>T (p.Leu922=)	rs143885319	0.00467
NM_001378454.1(ALMS1):c.8742A>G (p.Val2914=)	rs142611294	0.00466
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)	rs113013085	0.00465
NM_000170.3(GLDC):c.1707+8G>A	rs144666843	0.00464
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=)	rs182322608	0.00464
NM_000360.4(TH):c.16G>A (p.Ala6Thr)	rs74555599	0.00462
NM_000108.5(DLD):c.543A>T (p.Ile181=)	rs61749952	0.00461
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser)	rs75639119	0.00460
NM_000152.5(GAA):c.2580C>T (p.Asp860=)	rs61736894	0.00459
NM_000243.3(MEFV):c.1760-4G>A	rs79662406	0.00459
NM_006096.4(NDRG1):c.879G>A (p.Pro293=)	rs2233340	0.00458
NM_023036.6(DNAI2):c.747C>T (p.Gly249=)	rs148488355	0.00458
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln)	rs138744051	0.00456
NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg)	rs73928330	0.00456
NM_000098.3(CPT2):c.1578T>C (p.Gly526=)	rs113493395	0.00455
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=)	rs115166595	0.00455
NM_000027.4(AGA):c.60A>G (p.Leu20=)	rs114918706	0.00453
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_014363.6(SACS):c.12597A>G (p.Pro4199=)	rs112630127	0.00451
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg)	rs61759485	0.00451
NM_153717.3(EVC):c.469C>G (p.Pro157Ala)	rs146729456	0.00451
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu)	rs111033304	0.00450
NM_014363.6(SACS):c.11688G>A (p.Arg3896=)	rs116791509	0.00448
NM_024312.5(GNPTAB):c.1626A>G (p.Glu542=)	rs61745799	0.00448
NM_001360.3(DHCR7):c.1008C>T (p.His336=)	rs75225632	0.00447
NM_014363.6(SACS):c.10821C>A (p.Ile3607=)	rs113595574	0.00447
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val)	rs113806080	0.00446
NM_000492.4(CFTR):c.3718-2530A>G	rs213990	0.00445
NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile)	rs144513453	0.00443
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)	rs1801673	0.00441
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=)	rs41300676	0.00441
NM_000359.3(TGM1):c.168G>A (p.Ala56=)	rs79251149	0.00439
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser)	rs77731085	0.00439
NM_000057.4(BLM):c.4076+4T>G	rs183176301	0.00436
NM_012434.5(SLC17A5):c.820-3C>T	rs12201641	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_000352.6(ABCC8):c.354C>T (p.Val118=)	rs137873871	0.00434
NM_001126108.2(SLC12A3):c.249G>T (p.Arg83=)	rs76750525	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_000053.4(ATP7B):c.3101A>G (p.His1034Arg)	rs74085882	0.00430
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=)	rs182847302	0.00430
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly)	rs58093963	0.00429
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser)	rs75145370	0.00429
NM_000359.3(TGM1):c.125C>A (p.Ser42Tyr)	rs41295338	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_001875.5(CPS1):c.3481-8C>T	rs41272669	0.00424
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr)	rs111033481	0.00424
NM_015166.4(MLC1):c.279G>A (p.Ser93=)	rs11568172	0.00422
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp)	rs2229035	0.00421
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_000092.5(COL4A4):c.4082-8C>T	rs139571413	0.00420
NM_000271.5(NPC1):c.882-40T>A	rs144469784	0.00420
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)	rs151268759	0.00419
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser)	rs61737992	0.00419
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg)	rs45549044	0.00419
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp)	rs142883891	0.00418
NM_033305.3(VPS13A):c.2037+8C>A	rs41289961	0.00417
NM_000027.4(AGA):c.965C>T (p.Thr322Ile)	rs56849061	0.00414
NM_000520.6(HEXA):c.759G>A (p.Val253=)	rs117513345	0.00412
NM_001378454.1(ALMS1):c.4605A>G (p.Gln1535=)	rs144720929	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_000094.4(COL7A1):c.4613G>A (p.Arg1538His)	rs2229824	0.00408
NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=)	rs111033476	0.00408
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_001384140.1(PCDH15):c.2625G>A (p.Ser875=)	rs111033516	0.00401
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=)	rs191649793	0.00401
NM_000022.4(ADA):c.425G>A (p.Arg142Gln)	rs61732239	0.00399
NM_006432.5(NPC2):c.441+1G>A	rs140130028	0.00399
NM_024996.7(GFM1):c.1593C>T (p.Ala531=)	rs114754676	0.00399
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)	rs149694033	0.00397
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)	rs28940272	0.00396
NM_001164508.2(NEB):c.1981C>T (p.Leu661=)	rs146460133	0.00395
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_000018.4(ACADVL):c.308A>G (p.Lys103Arg)	rs140566084	0.00391
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_000158.4(GBE1):c.839G>A (p.Gly280Asp)	rs28763902	0.00388
NM_001369.3(DNAH5):c.5281C>G (p.Arg1761Gly)	rs148891849	0.00388
NM_014844.5(TECPR2):c.3275C>T (p.Ser1092Leu)	rs72700618	0.00388
NM_000198.4(HSD3B2):c.501G>A (p.Ala167=)	rs6207	0.00387
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile)	rs142293185	0.00386
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=)	rs147085074	0.00385
NM_000152.5(GAA):c.-32-13T>G	rs386834236	0.00384
NM_003227.4(TFR2):c.1127C>A (p.Ala376Asp)	rs41303495	0.00384
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=)	rs58820146	0.00381
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)	rs112822256	0.00379
NM_152564.5(VPS13B):c.3243A>G (p.Pro1081=)	rs34961653	0.00377
NM_000492.4(CFTR):c.-812T>G	rs181008242	0.00375
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_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe)	rs45517932	0.00371
NM_000243.3(MEFV):c.42G>A (p.Glu14=)	rs113314808	0.00369
NM_000153.4(GALC):c.1006G>A (p.Val336Met)	rs185073540	0.00368
NM_000352.6(ABCC8):c.2556+30C>T	rs76285388	0.00367
NM_001384474.1(LOXHD1):c.6034G>A (p.Glu2012Lys)	rs79045813	0.00367
NM_014297.5(ETHE1):c.227-9C>G	rs199921503	0.00367
NM_138413.4(HOGA1):c.700+7C>T	rs57616820	0.00367
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln)	rs35336155	0.00366
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=)	rs55940366	0.00365
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	rs77931234	0.00363
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_000135.4(FANCA):c.4249C>G (p.His1417Asp)	rs17227403	0.00362
NM_000152.5(GAA):c.447G>A (p.Thr149=)	rs2289536	0.00362
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn)	rs141932807	0.00362
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg)	rs1800368	0.00361
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)	rs112029032	0.00361
NM_000027.4(AGA):c.902T>C (p.Phe301Ser)	rs35916166	0.00360
NM_000360.4(TH):c.267G>A (p.Arg89=)	rs76240471	0.00359
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser)	rs148206382	0.00359
NM_000487.6(ARSA):c.1002C>T (p.Ser334=)	rs147027229	0.00358
NM_004004.6(GJB2):c.-6T>A	rs148136545	0.00355
NM_000531.6(OTC):c.-366A>G	rs191615506	0.00354
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=)	rs115631125	0.00354
NM_001384474.1(LOXHD1):c.1708G>A (p.Asp570Asn)	rs140437150	0.00354
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224	0.00354
NM_000098.3(CPT2):c.1763C>G (p.Ser588Cys)	rs1871748	0.00353
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser)	rs34084984	0.00352
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=)	rs116436235	0.00352
NM_000414.4(HSD17B4):c.666C>G (p.Val222=)	rs150677536	0.00351
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=)	rs147258619	0.00349
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu)	rs41308435	0.00346
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_000094.4(COL7A1):c.54G>C (p.Ala18=)	rs35899847	0.00343
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)	rs138427376	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_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly)	rs150925674	0.00340
NM_000243.3(MEFV):c.333G>A (p.Gly111=)	rs61732425	0.00339
NM_000303.3(PMM2):c.422G>A (p.Arg141His)	rs28936415	0.00338
NM_000527.4(LDLR):c.-217C>T	rs17249141	0.00338
NM_033305.3(VPS13A):c.101-7T>C	rs190684534	0.00338
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=)	rs111033228	0.00336
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg)	rs144180493	0.00336
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_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp)	rs115776799	0.00334
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser)	rs199689193	0.00333
NM_001164508.2(NEB):c.3636C>T (p.Asp1212=)	rs144376972	0.00333
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)	rs111540787	0.00332
NM_004629.2(FANCG):c.238C>T (p.Leu80=)	rs115131067	0.00330
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_000481.4(AMT):c.-1G>A	rs143841175	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_000153.4(GALC):c.96G>T (p.Leu32=)	rs113719127	0.00324
NM_014244.5(ADAMTS2):c.2751-4G>A	rs112155474	0.00324
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro)	rs57479434	0.00323
NM_000243.3(MEFV):c.1759+8C>T	rs77380520	0.00321
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_000070.3(CAPN3):c.1746-20C>G	rs201892814	0.00320
NM_001164508.2(NEB):c.5968G>A (p.Glu1990Lys)	rs146310692	0.00320
NM_000527.5(LDLR):c.1920C>T (p.Asn640=)	rs5926	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_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys)	rs61733519	0.00316
NM_000203.5(IDUA):c.1345C>A (p.His449Asn)	rs532731688	0.00315
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys)	rs149736764	0.00315
NM_001384474.1(LOXHD1):c.6270G>A (p.Arg2090=)	rs367833904	0.00315
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met)	rs73003348	0.00315
NM_000536.4(RAG2):c.22G>A (p.Val8Ile)	rs150762709	0.00313
NM_138694.4(PKHD1):c.2715+7del	rs551015414	0.00313
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_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr)	rs142476821	0.00312
NM_006493.4(CLN5):c.-87C>T	rs200353554	0.00309
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=)	rs139657823	0.00308
NM_000498.3(CYP11B2):c.798C>T (p.Tyr266=)	rs149682756	0.00308
NM_001127671.2(LIFR):c.2498-7G>A	rs113078097	0.00306
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_000135.4(FANCA):c.857A>G (p.Gln286Arg)	rs13336566	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_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_000154.2(GALK1):c.1107+5G>A	rs201663491	0.00297
NM_000396.4(CTSK):c.675A>G (p.Arg225=)	rs41271965	0.00297
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=)	rs139721775	0.00296
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala)	rs58806616	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_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)	rs192376005	0.00295
NM_001875.5(CPS1):c.486T>C (p.Tyr162=)	rs138779023	0.00295
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=)	rs55921307	0.00295
NM_000487.6(ARSA):c.466-7G>C	rs6151414	0.00294
NM_000053.4(ATP7B):c.2355+13T>G	rs139211339	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_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.7514C>A (p.Ala2505Glu)	rs35292878	0.00292
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)	rs148878361	0.00292
NM_153676.4(USH1C):c.381G>T (p.Gly127=)	rs41282942	0.00290
NM_000203.5(IDUA):c.346G>A (p.Gly116Arg)	rs148946496	0.00289
NM_002529.4(NTRK1):c.1236C>T (p.Asp412=)	rs147438950	0.00289
NM_003227.4(TFR2):c.1473G>A (p.Glu491=)	rs139178017	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_000094.4(COL7A1):c.3359G>A (p.Arg1120Lys)	rs2228563	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_000135.4(FANCA):c.3891G>A (p.Lys1297=)	rs17227361	0.00286
NM_138694.4(PKHD1):c.4920A>G (p.Val1640=)	rs142465959	0.00286
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser)	rs35623035	0.00285
NM_024649.5(BBS1):c.831-5C>T	rs56177555	0.00285
NM_182760.4(SUMF1):c.1077G>A (p.Ser359=)	rs140751492	0.00285
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_000022.4(ADA):c.162G>A (p.Lys54=)	rs45557242	0.00282
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)	rs60986317	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_020533.3(MCOLN1):c.16G>T (p.Gly6Cys)	rs61736595	0.00279
NM_000057.4(BLM):c.1928G>A (p.Arg643His)	rs12720097	0.00278
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)	rs141090143	0.00278
NM_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg)	rs143567667	0.00277
NM_003640.5(ELP1):c.286A>G (p.Ser96Gly)	rs35942802	0.00277
NM_001283009.2(RTEL1):c.301+7C>T	rs200648296	0.00276
NM_001386140.1(MTTP):c.-6G>A	rs41275707	0.00276
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu)	rs34120922	0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)	rs1800365	0.00275
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His)	rs142905621	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_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_003742.4(ABCB11):c.2943C>T (p.Tyr981=)	rs145720664	0.00273
NM_000137.4(FAH):c.554-20T>G	rs199501793	0.00272
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)	rs58241708	0.00272
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe)	rs142838522	0.00270
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala)	rs35238405	0.00270
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met)	rs143708308	0.00268
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_000051.4(ATM):c.2362A>C (p.Ser788Arg)	rs641252	0.00265
NM_000092.5(COL4A4):c.5016A>G (p.Glu1672=)	rs34761049	0.00264
NM_000091.5(COL4A3):c.2475G>C (p.Leu825Phe)	rs192027050	0.00262
NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser)	rs141631911	0.00262
NM_000170.3(GLDC):c.1331G>A (p.Cys444Tyr)	rs142099123	0.00261
NM_000487.6(ARSA):c.659C>T (p.Pro220Leu)	rs201251634	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_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)	rs200302125	0.00257
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_138694.4(PKHD1):c.1950G>A (p.Arg650=)	rs143226202	0.00257
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_002529.4(NTRK1):c.612G>A (p.Ser204=)	rs114320051	0.00251
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)	rs150576537	0.00250
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)	rs117033008	0.00250
NM_000260.4(MYO7A):c.1554+8G>A	rs111033227	0.00249
NM_000153.4(GALC):c.997G>A (p.Gly333Arg)	rs190921137	0.00248
NM_000243.3(MEFV):c.1587+18C>T	rs11466030	0.00248
NM_001360.3(DHCR7):c.399C>T (p.Ala133=)	rs147424205	0.00248
NM_004004.6(GJB2):c.457G>A (p.Val153Ile)	rs111033186	0.00247
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile)	rs28385141	0.00245
NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=)	rs75398993	0.00245
NM_000098.3(CPT2):c.1806T>C (p.Phe602=)	rs147953465	0.00245
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys)	rs148352371	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_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)	rs148584617	0.00244
NM_014251.3(SLC25A13):c.1680C>T (p.Ser560=)	rs150082469	0.00244
NM_000255.4(MMUT):c.205A>G (p.Ile69Val)	rs115923556	0.00243
NM_000289.6(PFKM):c.1338G>A (p.Gly446=)	rs150378513	0.00243
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn)	rs148777544	0.00243
NM_001164508.2(NEB):c.4980C>T (p.Pro1660=)	rs142074817	0.00242
NM_000543.5(SMPD1):c.441G>A (p.Val147=)	rs148944108	0.00241
NM_000057.4(BLM):c.2075-14T>C	rs28385026	0.00240
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=)	rs181573957	0.00240
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_000048.4(ASL):c.162C>T (p.Leu54=)	rs140221164	0.00238
NM_000154.2(GALK1):c.1119C>T (p.Gly373=)	rs73997615	0.00237
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg)	rs36099971	0.00237
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=)	rs112751577	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_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_017777.4(MKS1):c.1388G>A (p.Arg463Gln)	rs201619500	0.00235
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys)	rs144090917	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_000057.4(BLM):c.4077-10C>T	rs145310008	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_000282.4(PCCA):c.145C>T (p.Arg49Cys)	rs148651921	0.00231
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=)	rs61749163	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_000135.4(FANCA):c.1874G>C (p.Cys625Ser)	rs139235751	0.00230
NM_000199.5(SGSH):c.411G>A (p.Ala137=)	rs142557761	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_152419.3(HGSNAT):c.63G>A (p.Ala21=)	rs549139396	0.00230
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)	rs147313927	0.00229
NM_001369.3(DNAH5):c.624C>T (p.Asn208=)	rs139640247	0.00228
NM_006118.4(HAX1):c.207A>T (p.Pro69=)	rs142150013	0.00228
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)	rs116587608	0.00227
NM_002435.3(MPI):c.414G>A (p.Met138Ile)	rs150217523	0.00227
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)	rs61729954	0.00227
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=)	rs75897848	0.00225
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp)	rs148040591	0.00225
NM_000016.6(ACADM):c.469-9A>G	rs181322317	0.00223
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)	rs147222255	0.00223
NM_000094.4(COL7A1):c.5988C>T (p.Ile1996=)	rs146901730	0.00220
NM_000019.4(ACAT1):c.60G>C (p.Arg20=)	rs77311724	0.00219
NM_000282.4(PCCA):c.1236A>G (p.Pro412=)	rs41281120	0.00219
NM_000466.3(PEX1):c.330C>G (p.Pro110=)	rs71560821	0.00218
NM_001079802.2(FKTN):c.167G>A (p.Arg56His)	rs146951171	0.00218
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=)	rs202043044	0.00218
NM_003227.4(TFR2):c.1364G>A (p.Arg455Gln)	rs41303501	0.00218
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn)	rs10979599	0.00218
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro)	rs11466018	0.00217
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_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)	rs137932254	0.00215
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile)	rs74360232	0.00215
NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val)	rs2066520	0.00215
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val)	rs201036248	0.00214
NM_000057.4(BLM):c.254G>C (p.Arg85Thr)	rs141503266	0.00213
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_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile)	rs140042576	0.00212
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00212
NM_000091.5(COL4A3):c.4665G>A (p.Ala1555=)	rs200858199	0.00210
NM_153006.3(NAGS):c.1281C>G (p.Ala427=)	rs371886833	0.00210
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe)	rs150441555	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_001164508.2(NEB):c.25367C>T (p.Thr8456Met)	rs78592085	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_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_023036.6(DNAI2):c.1408G>A (p.Gly470Ser)	rs115299472	0.00205
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp)	rs201074268	0.00204
NM_000170.3(GLDC):c.2748G>A (p.Leu916=)	rs139982267	0.00203
NM_003640.5(ELP1):c.1886G>A (p.Arg629His)	rs148378319	0.00203
NM_000135.4(FANCA):c.1830A>G (p.Ala610=)	rs1800338	0.00201
NM_000243.3(MEFV):c.1173T>C (p.Asp391=)	rs146077729	0.00201
NM_001142800.2(EYS):c.-337T>A	rs145321084	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_000478.6(ALPL):c.571G>A (p.Glu191Lys)	rs121918007	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_033305.3(VPS13A):c.1758T>C (p.Ala586=)	rs149037185	0.00199
NM_182760.4(SUMF1):c.642G>A (p.Ala214=)	rs141017221	0.00199
NM_000016.6(ACADM):c.468+71T>C	rs571856182	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_000260.4(MYO7A):c.3750+9G>A	rs111033252	0.00197
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)	rs146451611	0.00197
NM_024996.7(GFM1):c.2190C>T (p.Asp730=)	rs149049400	0.00196
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_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_000349.3(STAR):c.361C>T (p.Arg121Trp)	rs34908868	0.00193
NM_006261.5(PROP1):c.425C>T (p.Ala142Val)	rs143790367	0.00193
NM_000018.4(ACADVL):c.1828-4C>G	rs184559206	0.00192
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_000263.4(NAGLU):c.1860C>T (p.Ser620=)	rs151013014	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_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)	rs41303255	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_000027.4(AGA):c.623-7C>T	rs201125635	0.00188
NM_000071.3(CBS):c.954+8G>A	rs76292057	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_002485.5(NBN):c.283G>A (p.Asp95Asn)	rs61753720	0.00188
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)	rs141859946	0.00188
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile)	rs149881695	0.00187
NM_002529.4(NTRK1):c.157G>C (p.Asp53His)	rs200815412	0.00187
NM_153006.3(NAGS):c.374C>A (p.Thr125Lys)	rs185863881	0.00187
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)	rs56128736	0.00186
NM_000199.5(SGSH):c.1283G>A (p.Arg428His)	rs144862290	0.00186
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe)	rs141798874	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_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys)	rs141168110	0.00184
NM_003227.4(TFR2):c.2278G>A (p.Gly760Arg)	rs144665594	0.00184
NM_014244.5(ADAMTS2):c.1488C>T (p.Phe496=)	rs147438064	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_000492.4(CFTR):c.1365G>A (p.Ala455=)	rs79074685	0.00183
NM_032520.5(GNPTG):c.741+5C>T	rs201263537	0.00183
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His)	rs201979610	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_005609.4(PYGM):c.148C>T (p.Arg50Ter)	rs116987552	0.00181
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)	rs141093638	0.00181
NM_000170.3(GLDC):c.1927-9A>G	rs41281773	0.00180
NM_000349.3(STAR):c.687G>A (p.Pro229=)	rs35852516	0.00180
NM_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile)	rs147372600	0.00180
NM_001369.3(DNAH5):c.9941G>A (p.Arg3314His)	rs143858741	0.00180
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg)	rs137917233	0.00180
NM_001384474.1(LOXHD1):c.1617G>A (p.Met539Ile)	rs143142227	0.00178
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr)	rs141138349	0.00178
NM_138694.4(PKHD1):c.5100C>T (p.Thr1700=)	rs143717242	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_001164508.2(NEB):c.23477A>G (p.Asn7826Ser)	rs143602832	0.00177
NM_000151.4(G6PC1):c.610G>T (p.Ala204Ser)	rs201961848	0.00176
NM_001369.3(DNAH5):c.1356G>A (p.Lys452=)	rs144748846	0.00176
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys)	rs45496998	0.00176
NM_000108.5(DLD):c.826A>T (p.Thr276Ser)	rs148873419	0.00175
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_001875.5(CPS1):c.783C>T (p.Ile261=)	rs142468138	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_000057.4(BLM):c.2119C>T (p.Pro707Ser)	rs146077918	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_000030.3(AGXT):c.836T>C (p.Ile279Thr)	rs140992177	0.00171
NM_022132.5(MCCC2):c.1217-7C>G	rs148369119	0.00171
NM_033305.3(VPS13A):c.3078T>G (p.Thr1026=)	rs141835897	0.00171
NM_153717.3(EVC):c.934G>A (p.Asp312Asn)	rs115275195	0.00171
NM_000284.4(PDHA1):c.798A>G (p.Thr266=)	rs35752213	0.00170
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser)	rs61733140	0.00170
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_153676.4(USH1C):c.674+4G>A	rs202095395	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_001370658.1(BTD):c.202C>G (p.Gln68Glu)	rs151071780	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_206933.4(USH2A):c.3648C>T (p.Tyr1216=)	rs147947402	0.00167
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_000051.4(ATM):c.7788+8G>T	rs112775908	0.00165
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=)	rs34718443	0.00165
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_000255.4(MMUT):c.1125G>A (p.Met375Ile)	rs148091558	0.00163
NM_000532.5(PCCB):c.774C>G (p.His258Gln)	rs141615209	0.00163
NM_153717.3(EVC):c.1500G>A (p.Met500Ile)	rs149898884	0.00163
NM_201548.5(CERKL):c.820+9G>A	rs189638090	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_005609.4(PYGM):c.660G>A (p.Gln220=)	rs142234258	0.00161
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_000528.4(MAN2B1):c.2283C>T (p.Pro761=)	rs138358081	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_024685.4(BBS10):c.1736A>G (p.Lys579Arg)	rs141521925	0.00159
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_206933.4(USH2A):c.13709G>A (p.Arg4570His)	rs730254	0.00158
NM_000466.3(PEX1):c.130-9T>C	rs377337949	0.00157
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val)	rs142679083	0.00157
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr)	rs142054672	0.00157
NM_000203.5(IDUA):c.493+10C>T	rs200000194	0.00156
NM_001164508.2(NEB):c.19377C>T (p.Asp6459=)	rs187211085	0.00156
NM_001370658.1(BTD):c.201C>T (p.Asn67=)	rs147057169	0.00156
NM_012144.4(DNAI1):c.1902C>T (p.His634=)	rs139197229	0.00156
NR_003051.3(RMRP):n.71A>G	rs199476103	0.00156
NM_000027.4(AGA):c.303A>T (p.Ala101=)	rs142449515	0.00155
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)	rs41292782	0.00155
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_001875.5(CPS1):c.1630A>T (p.Thr544Ser)	rs144230667	0.00154
NM_006623.4(PHGDH):c.624T>C (p.Pro208=)	rs77401816	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_000035.4(ALDOB):c.906T>C (p.Tyr302=)	rs138866018	0.00151
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)	rs181250704	0.00151
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys)	rs114896482	0.00151
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)	rs145798966	0.00150
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_004004.6(GJB2):c.249C>G (p.Phe83Leu)	rs111033218	0.00150
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)	rs140679502	0.00150
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)	rs72552259	0.00149
NM_000359.3(TGM1):c.61A>G (p.Thr21Ala)	rs140542428	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.1393-42G>A	rs34906874	0.00148
NM_000492.4(CFTR):c.2820T>G (p.Thr940=)	rs60887846	0.00148
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly)	rs36105240	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_004035.7(ACOX1):c.1368C>T (p.Asn456=)	rs151255626	0.00147
NM_001126108.2(SLC12A3):c.1392C>A (p.Ala464=)	rs118121751	0.00146
NM_001126108.2(SLC12A3):c.2190C>T (p.Leu730=)	rs150692587	0.00146
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu)	rs147688221	0.00146
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)	rs199573929	0.00146
NM_052845.4(MMAB):c.624C>T (p.Asn208=)	rs146687452	0.00146
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)	rs149781976	0.00146
NM_206933.4(USH2A):c.486-15C>T	rs114194722	0.00146
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_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.6854G>A (p.Gly2285Glu)	rs142526715	0.00145
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile)	rs147851214	0.00145
NM_000156.6(GAMT):c.392-7C>T	rs192416474	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_012203.2(GRHPR):c.512G>A (p.Arg171His)	rs200106110	0.00143
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu)	rs141155976	0.00142
NM_000478.6(ALPL):c.859T>C (p.Leu287=)	rs141742288	0.00141
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)	rs144590904	0.00141
NM_004937.3(CTNS):c.327C>T (p.Thr109=)	rs150554216	0.00141
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)	rs142551229	0.00140
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_014244.5(ADAMTS2):c.139+4G>A	rs1023653032	0.00140
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser)	rs41273722	0.00140
NM_000051.4(ATM):c.1066-6T>G	rs201686625	0.00139
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp)	rs143002265	0.00139
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys)	rs145062583	0.00139
NM_000536.4(RAG2):c.1095T>C (p.Ser365=)	rs140519815	0.00139
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp)	rs148720124	0.00139
NM_000094.4(COL7A1):c.3889G>A (p.Glu1297Lys)	rs149881350	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.2914G>A (p.Glu972Lys)	rs367630521	0.00138
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=)	rs370616818	0.00138
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)	rs28904919	0.00137
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_000151.4(G6PC1):c.-45G>A	rs367816430	0.00137
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu)	rs61758732	0.00137
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr)	rs201141958	0.00137
NM_000243.3(MEFV):c.1610+10G>T	rs11466033	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_153006.3(NAGS):c.1216G>A (p.Asp406Asn)	rs140481641	0.00135
NM_172250.3(MMAA):c.102C>T (p.Leu34=)	rs146372922	0.00135
NM_000349.3(STAR):c.504C>T (p.His168=)	rs147138315	0.00134
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_001164508.2(NEB):c.24874-8C>T	rs200902944	0.00134
NM_005957.5(MTHFR):c.708C>T (p.Phe236=)	rs34279942	0.00134
NM_000080.4(CHRNE):c.1416C>T (p.Leu472=)	rs145456588	0.00133
NM_000137.4(FAH):c.961-17G>A	rs372657388	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_002435.3(MPI):c.10C>T (p.Pro4Ser)	rs143982014	0.00133
NM_006623.4(PHGDH):c.510+6A>G	rs371736796	0.00133
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)	rs141212446	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_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_014363.6(SACS):c.7528G>A (p.Ala2510Thr)	rs111920492	0.00131
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys)	rs78920863	0.00130
NM_130849.4(SLC39A4):c.1743C>T (p.Val581=)	rs144252108	0.00130
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met)	rs139872089	0.00129
NM_054012.4(ASS1):c.1101G>A (p.Leu367=)	rs139031154	0.00128
NM_000492.4(CFTR):c.4242+10T>C	rs138642693	0.00127
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile)	rs144761622	0.00126
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)	rs140781259	0.00126
NM_000532.5(PCCB):c.138G>C (p.Ala46=)	rs145075817	0.00126
NM_005476.7(GNE):c.1872G>A (p.Ala624=)	rs145361930	0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)	rs4988008	0.00125
NM_000158.4(GBE1):c.1521T>C (p.Thr507=)	rs372821643	0.00125
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg)	rs189623595	0.00125
NM_138694.4(PKHD1):c.2348G>A (p.Arg783Gln)	rs185941281	0.00125
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)	rs11212587	0.00124
NM_000153.4(GALC):c.1489+3G>A	rs186664912	0.00124
NM_000154.2(GALK1):c.593C>T (p.Ala198Val)	rs80084721	0.00124
NM_000246.4(CIITA):c.1461C>G (p.Ile487Met)	rs141202424	0.00124
NM_000466.3(PEX1):c.3426C>T (p.Thr1142=)	rs143220470	0.00124
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=)	rs772339340	0.00124
NM_005373.3(MPL):c.754T>C (p.Tyr252His)	rs141311765	0.00124
NM_006261.5(PROP1):c.471C>T (p.Tyr157=)	rs145883811	0.00124
NM_024996.7(GFM1):c.690-5C>G	rs201685981	0.00124
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=)	rs201825451	0.00123
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=)	rs79023226	0.00123
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)	rs200300254	0.00123
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_014140.4(SMARCAL1):c.1851+5G>A	rs2066514	0.00122
NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=)	rs141552752	0.00121
NM_003227.4(TFR2):c.2172A>G (p.Pro724=)	rs141140309	0.00121
NM_022132.5(MCCC2):c.450G>C (p.Val150=)	rs151098534	0.00121
NM_000128.4(F11):c.663C>T (p.Pro221=)	rs142846329	0.00120
NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr)	rs112217391	0.00120
NM_002454.3(MTRR):c.144C>T (p.Thr48=)	rs138612190	0.00120
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=)	rs61747281	0.00120
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_001875.5(CPS1):c.3643A>G (p.Ile1215Val)	rs141373204	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_001142800.2(EYS):c.5233G>A (p.Asp1745Asn)	rs145274061	0.00118
NM_001164508.2(NEB):c.17601G>A (p.Val5867=)	rs58263509	0.00118
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys)	rs137979116	0.00118
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu)	rs45449298	0.00118
NM_206933.4(USH2A):c.1179A>G (p.Gln393=)	rs148447919	0.00118
NM_206933.4(USH2A):c.4698G>A (p.Gln1566=)	rs143218330	0.00118
NM_001164508.2(NEB):c.8202C>T (p.Val2734=)	rs144595998	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_000158.4(GBE1):c.2074G>A (p.Ala692Thr)	rs192877602	0.00116
NM_000255.4(MMUT):c.393G>A (p.Gln131=)	rs145682249	0.00116
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=)	rs111967655	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_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)	rs61754109	0.00116
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)	rs140524886	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_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg)	rs147236883	0.00115
NM_138694.4(PKHD1):c.11130C>T (p.Ile3710=)	rs146224907	0.00115
NM_000033.4(ABCD1):c.707G>A (p.Arg236His)	rs201455322	0.00114
NM_001673.5(ASNS):c.1364C>T (p.Ser455Phe)	rs61733327	0.00114
NM_004453.4(ETFDH):c.1590A>G (p.Glu530=)	rs143015234	0.00114
NM_014844.5(TECPR2):c.1644T>G (p.Asn548Lys)	rs72700613	0.00114
NM_130849.4(SLC39A4):c.518C>T (p.Ala173Val)	rs141890870	0.00114
NM_000094.4(COL7A1):c.4559C>T (p.Pro1520Leu)	rs140114392	0.00113
NM_000152.5(GAA):c.915G>A (p.Gly305=)	rs150343359	0.00113
NM_000154.2(GALK1):c.1167G>A (p.Val389=)	rs150586960	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_000642.3(AGL):c.3431T>A (p.Ile1144Asn)	rs2230308	0.00113
NM_001033855.3(DCLRE1C):c.36A>C (p.Pro12=)	rs148108773	0.00113
NM_138694.4(PKHD1):c.281+3A>G	rs79803080	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_000170.3(GLDC):c.2988G>C (p.Gln996His)	rs138640017	0.00112
NM_001164508.2(NEB):c.177G>A (p.Gln59=)	rs200990309	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_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val)	rs146739496	0.00111
NM_001386140.1(MTTP):c.972G>A (p.Glu324=)	rs146953015	0.00111
NM_003227.4(TFR2):c.2137-5C>T	rs374964799	0.00111
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr)	rs144658100	0.00110
NM_000170.3(GLDC):c.498T>C (p.Pro166=)	rs150193069	0.00110
NM_000274.4(OAT):c.969C>T (p.Tyr323=)	rs138895801	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_001164508.2(NEB):c.2283C>T (p.Ala761=)	rs373946448	0.00109
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=)	rs140034972	0.00109
NM_000016.6(ACADM):c.678A>G (p.Ala226=)	rs2229249	0.00108
NM_000137.4(FAH):c.565G>A (p.Val189Ile)	rs145389125	0.00108
NM_000492.4(CFTR):c.2620-26A>G	rs201716473	0.00108
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr)	rs201767727	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_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_014049.5(ACAD9):c.988A>C (p.Lys330Gln)	rs79530903	0.00107
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser)	rs141609561	0.00107
NM_000246.4(CIITA):c.460G>A (p.Asp154Asn)	rs76923280	0.00106
NM_000359.3(TGM1):c.106C>A (p.Arg36Ser)	rs145197904	0.00106
NM_000478.6(ALPL):c.818C>T (p.Thr273Met)	rs148405563	0.00106
NM_001164508.2(NEB):c.8719G>A (p.Gly2907Ser)	rs201707021	0.00106
NM_001399.5(EDA):c.458G>A (p.Arg153His)	rs140642493	0.00106
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=)	rs118158347	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_000383.4(AIRE):c.769C>T (p.Arg257Ter)	rs121434254	0.00105
NM_000784.4(CYP27A1):c.646+4C>T	rs191313794	0.00105
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=)	rs138388301	0.00105
NM_006493.4(CLN5):c.-146T>C	rs201615354	0.00104
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg)	rs146668962	0.00104
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)	rs138327406	0.00103
NM_000199.5(SGSH):c.181C>T (p.Arg61Cys)	rs142309764	0.00103
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=)	rs145145840	0.00103
NM_000543.5(SMPD1):c.1091+9C>T	rs143612450	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_001142800.2(EYS):c.6394C>T (p.Leu2132=)	rs149332790	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_000057.4(BLM):c.11T>C (p.Val4Ala)	rs144706057	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_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp)	rs146632606	0.00102
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser)	rs138392504	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_000152.5(GAA):c.726G>A (p.Ala242=)	rs148578399	0.00101
NM_000231.3(SGCG):c.539A>T (p.Glu180Val)	rs114160429	0.00101
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)	rs1800131	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_001384474.1(LOXHD1):c.6099C>T (p.Asn2033=)	rs146200756	0.00101
NM_006623.4(PHGDH):c.1559C>A (p.Ala520Glu)	rs151275800	0.00101
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln)	rs145886657	0.00101
NM_000128.4(F11):c.1020C>T (p.Asn340=)	rs149052026	0.00100
NM_000520.6(HEXA):c.1107C>T (p.Gly369=)	rs140337137	0.00100
NM_000382.3(ALDH3A2):c.119A>G (p.Asp40Gly)	rs147190807	0.00099
NM_000027.4(AGA):c.762C>T (p.Ala254=)	rs145465919	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_000352.6(ABCC8):c.1630+10C>T	rs188075767	0.00098
NM_001126108.2(SLC12A3):c.1284C>T (p.Thr428=)	rs34216426	0.00098
NM_001384474.1(LOXHD1):c.4440G>A (p.Val1480=)	rs76946640	0.00098
NM_003384.3(VRK1):c.175T>G (p.Ser59Ala)	rs61736727	0.00098
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr)	rs141463026	0.00098
NM_130849.4(SLC39A4):c.257C>T (p.Pro86Leu)	rs187080747	0.00098
NM_000199.5(SGSH):c.1446C>T (p.Ala482=)	rs113679696	0.00097
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val)	rs117874766	0.00097
NM_014244.5(ADAMTS2):c.1122C>T (p.Ser374=)	rs145109914	0.00097
NM_032316.3(NICN1):c.*2307G>C	rs544461335	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_000282.4(PCCA):c.2172C>T (p.Leu724=)	rs150352833	0.00096
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr)	rs144899305	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_000030.3(AGXT):c.1023C>A (p.Asp341Glu)	rs144007007	0.00095
NM_002435.3(MPI):c.1049C>T (p.Thr350Met)	rs116933453	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_000057.4(BLM):c.3359-13A>G	rs200250931	0.00093
NM_000094.4(COL7A1):c.8568C>T (p.Ser2856=)	rs148454724	0.00093
NM_000159.4(GCDH):c.1011A>G (p.Ala337=)	rs2229460	0.00093
NM_001876.4(CPT1A):c.853A>C (p.Lys285Gln)	rs77477448	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_006432.5(NPC2):c.363+7G>A	rs200463204	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_000441.2(SLC26A4):c.2190G>T (p.Gln730His)	rs142723249	0.00092
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=)	rs146932786	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_000481.4(AMT):c.510G>C (p.Val170=)	rs140380954	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_000260.4(MYO7A):c.1554+7C>T	rs150114658	0.00090
NM_000135.4(FANCA):c.237C>T (p.Asp79=)	rs144151341	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_000046.5(ARSB):c.1078C>T (p.Leu360=)	rs140923667	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_000282.4(PCCA):c.1676G>T (p.Trp559Leu)	rs118169528	0.00088
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser)	rs200164758	0.00088
NM_152564.5(VPS13B):c.7695C>T (p.Cys2565=)	rs114038492	0.00088
NM_000151.4(G6PC1):c.562+10G>A	rs199505156	0.00087
NM_000198.4(HSD3B2):c.500C>T (p.Ala167Val)	rs35486059	0.00087
NM_000198.4(HSD3B2):c.621C>T (p.Asn207=)	rs143758913	0.00087
NM_000282.4(PCCA):c.2040+11dup	rs779884567	0.00087
NM_000520.6(HEXA):c.1527-6T>C	rs199914308	0.00087
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=)	rs138209330	0.00087
NM_023036.6(DNAI2):c.754G>A (p.Val252Met)	rs140326154	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_000133.4(F9):c.19A>T (p.Ile7Phe)	rs150190385	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_017777.4(MKS1):c.27C>T (p.Asp9=)	rs369488349	0.00086
NM_031885.5(BBS2):c.1380C>T (p.Phe460=)	rs141046144	0.00086
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=)	rs143782439	0.00085
NM_182760.4(SUMF1):c.211T>C (p.Ser71Pro)	rs201984297	0.00085
NM_003640.5(ELP1):c.203G>T (p.Ser68Ile)	rs143723093	0.00084
NM_003907.3(EIF2B5):c.1870-5C>A	rs144864475	0.00084
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=)	rs17752991	0.00084
NM_201548.5(CERKL):c.375C>G (p.Cys125Trp)	rs200711686	0.00084
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_000396.4(CTSK):c.-1-9C>T	rs200480574	0.00083
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)	rs35516286	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_006623.4(PHGDH):c.682G>T (p.Gly228Trp)	rs139063843	0.00083
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_000022.4(ADA):c.226C>T (p.Arg76Trp)	rs121908736	0.00081
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_000159.4(GCDH):c.471C>T (p.Ser157=)	rs146682905	0.00081
NM_000203.5(IDUA):c.408C>T (p.Ala136=)	rs138195998	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_001875.5(CPS1):c.2192+6A>T	rs201058019	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_000023.4(SGCA):c.843C>A (p.Ala281=)	rs149487996	0.00080
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_000203.5(IDUA):c.701G>C (p.Ser234Thr)	rs201826605	0.00080
NM_000532.5(PCCB):c.882C>T (p.Pro294=)	rs142730126	0.00080
NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=)	rs147576439	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_206933.4(USH2A):c.1663C>G (p.Leu555Val)	rs35818432	0.00080
NM_000016.6(ACADM):c.645T>A (p.Ala215=)	rs147395095	0.00079
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg)	rs140169311	0.00079
NM_024312.5(GNPTAB):c.3516T>C (p.Tyr1172=)	rs201592854	0.00079
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser)	rs144222167	0.00078
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)	rs373081328	0.00078
NM_000170.3(GLDC):c.2863G>A (p.Val955Ile)	rs148540696	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_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser)	rs199874928	0.00078
NM_012203.2(GRHPR):c.801A>C (p.Gly267=)	rs141800325	0.00078
NM_020533.3(MCOLN1):c.1584C>T (p.Gly528=)	rs145386883	0.00078
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)	rs147934285	0.00077
NM_000156.6(GAMT):c.581T>C (p.Val194Ala)	rs147739199	0.00077
NM_000284.4(PDHA1):c.507G>A (p.Ala169=)	rs141862527	0.00077
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_005609.4(PYGM):c.1787A>G (p.Asn596Ser)	rs150622626	0.00077
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=)	rs184883937	0.00077
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr)	rs140095832	0.00077
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His)	rs186476316	0.00076
NM_001369.3(DNAH5):c.1329G>A (p.Gln443=)	rs141621142	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_152564.5(VPS13B):c.2596G>A (p.Val866Ile)	rs150185067	0.00076
NM_000023.4(SGCA):c.366G>A (p.Leu122=)	rs147739328	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_000528.4(MAN2B1):c.419G>A (p.Arg140Gln)	rs139281846	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_001164508.2(NEB):c.7581C>T (p.Tyr2527=)	rs200425929	0.00075
NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala)	rs148962110	0.00075
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met)	rs138480247	0.00075
NM_138694.4(PKHD1):c.7912-5T>G	rs371510537	0.00075
NM_000136.3(FANCC):c.816C>T (p.Ile272=)	rs55719336	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_001042432.2(CLN3):c.238A>T (p.Thr80Ser)	rs150348015	0.00074
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln)	rs146030669	0.00074
NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln)	rs148468627	0.00074
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln)	rs139306043	0.00074
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)	rs116135678	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_000016.6(ACADM):c.199T>C (p.Tyr67His)	rs121434280	0.00073
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn)	rs146923842	0.00073
NM_000274.4(OAT):c.1224T>C (p.His408=)	rs201864147	0.00073
NM_000532.5(PCCB):c.429+7G>A	rs201986472	0.00073
NM_001126108.2(SLC12A3):c.2028C>T (p.His676=)	rs35070204	0.00073
NM_003060.4(SLC22A5):c.279G>C (p.Ser93=)	rs377734902	0.00073
NM_003640.5(ELP1):c.3347-15A>G	rs200154542	0.00073
NM_018941.4(CLN8):c.513C>G (p.Pro171=)	rs376910635	0.00073
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val)	rs139306706	0.00073
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys)	rs149478021	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_000260.4(MYO7A):c.5904C>T (p.His1968=)	rs41298753	0.00072
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_001164508.2(NEB):c.22005G>A (p.Thr7335=)	rs201400523	0.00072
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)	rs11555217	0.00072
NM_004937.3(CTNS):c.695G>A (p.Arg232His)	rs142641674	0.00072
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=)	rs139436386	0.00072
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr)	rs144321760	0.00071
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)	rs2235006	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_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val)	rs78102263	0.00071
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=)	rs201388780	0.00071
NM_001875.5(CPS1):c.1416T>C (p.Asn472=)	rs148204462	0.00071
NM_015166.4(MLC1):c.627C>T (p.Ala209=)	rs138153307	0.00071
NM_213653.4(HJV):c.510C>T (p.Phe170=)	rs139281553	0.00071
NM_000091.5(COL4A3):c.274G>C (p.Val92Leu)	rs200873401	0.00070
NM_000153.4(GALC):c.-67T>G	rs571945132	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_001369.3(DNAH5):c.10367C>T (p.Ala3456Val)	rs149956015	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.11495+6A>G	rs116546060	0.00070
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)	rs142248228	0.00070
NM_000383.4(AIRE):c.447G>A (p.Arg149=)	rs374704178	0.00069
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=)	rs111033193	0.00069
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=)	rs140963147	0.00069
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=)	rs184319249	0.00069
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)	rs201587138	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_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_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)	rs140601319	0.00068
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe)	rs145208175	0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)	rs145890213	0.00068
NM_153006.3(NAGS):c.1302C>T (p.Pro434=)	rs150004962	0.00068
NM_000137.4(FAH):c.553+10C>T	rs201051426	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_001369.3(DNAH5):c.1715T>G (p.Leu572Trp)	rs137878131	0.00067
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys)	rs28939695	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_000466.3(PEX1):c.645C>G (p.Thr215=)	rs151041559	0.00066
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)	rs201652272	0.00066
NM_001164508.2(NEB):c.18862G>A (p.Val6288Ile)	rs201886728	0.00066
NM_001164508.2(NEB):c.8978A>G (p.Lys2993Arg)	rs138217855	0.00066
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His)	rs142558799	0.00066
NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=)	rs200491758	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_005476.7(GNE):c.1267A>G (p.Ile423Val)	rs35638832	0.00066
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His)	rs140621260	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_000466.3(PEX1):c.3373A>T (p.Met1125Leu)	rs142994610	0.00065
NM_001369.3(DNAH5):c.2578-10T>G	rs756212532	0.00065
NM_001875.5(CPS1):c.1714G>A (p.Asp572Asn)	rs142916171	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_000070.3(CAPN3):c.525C>T (p.Asp175=)	rs144383442	0.00064
NM_000154.2(GALK1):c.611+9C>T	rs370204015	0.00064
NM_000642.3(AGL):c.334A>G (p.Ile112Val)	rs147024351	0.00064
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)	rs143994166	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_006623.4(PHGDH):c.985A>T (p.Thr329Ser)	rs201298102	0.00064
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_014844.5(TECPR2):c.1833A>G (p.Thr611=)	rs147716085	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_001283009.2(RTEL1):c.2824G>A (p.Asp942Asn)	rs116247954	0.00062
NM_002485.5(NBN):c.441C>T (p.Cys147=)	rs137857529	0.00062
NM_005609.4(PYGM):c.1083C>T (p.Asp361=)	rs141959242	0.00062
NM_000033.4(ABCD1):c.258C>T (p.Val86=)	rs200660869	0.00061
NM_000046.5(ARSB):c.570A>G (p.Thr190=)	rs148138805	0.00061
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_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.18431A>G (p.His6144Arg)	rs34504204	0.00061
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=)	rs140941507	0.00061
NM_001369.3(DNAH5):c.11231C>A (p.Thr3744Asn)	rs529225111	0.00061
NM_002529.4(NTRK1):c.602C>A (p.Pro201His)	rs146201511	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_031885.5(BBS2):c.126T>G (p.Ile42Met)	rs139945733	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.2243C>T (p.Ala748Val)	rs141622697	0.00061
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser)	rs200204857	0.00061
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val)	rs150151955	0.00060
NM_005726.6(TSFM):c.760C>T (p.Arg254Cys)	rs200132571	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_001369.3(DNAH5):c.1121T>C (p.Ile374Thr)	rs147499872	0.00059
NM_003060.4(SLC22A5):c.414C>T (p.Asp138=)	rs150705788	0.00059
NM_012144.4(DNAI1):c.40C>T (p.His14Tyr)	rs146501326	0.00059
NM_014140.4(SMARCAL1):c.124A>G (p.Ile42Val)	rs199905841	0.00059
NM_000018.4(ACADVL):c.1824C>T (p.Ile608=)	rs146115467	0.00058
NM_000022.4(ADA):c.606+10G>A	rs201045221	0.00058
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=)	rs140263823	0.00058
NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=)	rs200454769	0.00058
NM_000182.5(HADHA):c.1212G>C (p.Val404=)	rs116396996	0.00058
NM_000382.3(ALDH3A2):c.1398C>T (p.Leu466=)	rs150927045	0.00058
NM_000531.6(OTC):c.298+5G>C	rs72554348	0.00058
NM_001033855.3(DCLRE1C):c.1602C>T (p.Ser534=)	rs61745540	0.00058
NM_001164508.2(NEB):c.20835G>A (p.Pro6945=)	rs186244044	0.00058
NM_001164508.2(NEB):c.8499G>A (p.Lys2833=)	rs183998406	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_004937.3(CTNS):c.534C>T (p.Ile178=)	rs113967200	0.00058
NM_005609.4(PYGM):c.182G>A (p.Arg61His)	rs145514333	0.00058
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr)	rs148616219	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_000094.4(COL7A1):c.8504G>A (p.Arg2835His)	rs139014122	0.00057
NM_000157.4(GBA1):c.474C>T (p.Ile158=)	rs147411159	0.00057
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)	rs145136257	0.00057
NM_000466.3(PEX1):c.1085C>T (p.Ser362Leu)	rs138758170	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_000023.4(SGCA):c.421C>A (p.Arg141Ser)	rs35130237	0.00056
NM_000027.4(AGA):c.482G>A (p.Arg161Gln)	rs192195150	0.00056
NM_000071.3(CBS):c.215A>T (p.Lys72Ile)	rs192232907	0.00056
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr)	rs17227396	0.00056
NM_000152.5(GAA):c.2417C>T (p.Thr806Met)	rs139850074	0.00056
NM_000360.4(TH):c.1398C>T (p.Ile466=)	rs118175546	0.00056
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=)	rs368834616	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_014363.6(SACS):c.7165G>A (p.Val2389Met)	rs142869943	0.00056
NM_015166.4(MLC1):c.1053T>C (p.Ala351=)	rs11568190	0.00056
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala)	rs150440590	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_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_000135.4(FANCA):c.2658G>C (p.Glu886Asp)	rs139002130	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_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile)	rs199834369	0.00055
NM_003982.4(SLC7A7):c.234C>T (p.Val78=)	rs139776370	0.00055
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala)	rs143389605	0.00055
NM_206933.4(USH2A):c.2299del (p.Glu767fs)	rs80338903	0.00055
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_000246.4(CIITA):c.712C>T (p.His238Tyr)	rs150307400	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_000532.5(PCCB):c.763+10C>G	rs180982841	0.00054
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val)	rs202209668	0.00054
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=)	rs144562471	0.00054
NM_001875.5(CPS1):c.195C>T (p.Ser65=)	rs192759073	0.00054
NM_001876.4(CPT1A):c.2142+8C>T	rs147563740	0.00054
NM_014244.5(ADAMTS2):c.2272G>A (p.Ala758Thr)	rs146222244	0.00054
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His)	rs149163661	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_000070.3(CAPN3):c.2380+19C>T	rs141234995	0.00053
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=)	rs1800346	0.00053
NM_000137.4(FAH):c.181G>T (p.Val61Phe)	rs151264725	0.00053
NM_000391.4(TPP1):c.509-1G>C	rs56144125	0.00053
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)	rs147509697	0.00053
NM_000642.3(AGL):c.1759C>T (p.His587Tyr)	rs139488862	0.00053
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=)	rs141519183	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_000094.4(COL7A1):c.810G>A (p.Thr270=)	rs138770708	0.00052
NM_000203.5(IDUA):c.493+7G>A	rs200509712	0.00052
NM_000359.3(TGM1):c.270T>A (p.Pro90=)	rs201400055	0.00052
NM_000527.5(LDLR):c.1167G>A (p.Thr389=)	rs139066906	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_001875.5(CPS1):c.948-6C>T	rs112199960	0.00052
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu)	rs11568361	0.00052
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=)	rs148335285	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_000046.5(ARSB):c.88C>T (p.Leu30=)	rs766870239	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_000642.3(AGL):c.1908A>G (p.Ser636=)	rs144723143	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_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala)	rs200467041	0.00051
NM_001384474.1(LOXHD1):c.1716C>T (p.Asn572=)	rs147582935	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_000199.5(SGSH):c.1296C>T (p.Tyr432=)	rs141153056	0.00050
NM_000246.4(CIITA):c.931A>G (p.Met311Val)	rs140139362	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_001164508.2(NEB):c.23524C>T (p.Arg7842Cys)	rs184516994	0.00050
NM_001369.3(DNAH5):c.1198G>A (p.Val400Met)	rs144575803	0.00050
NM_002529.4(NTRK1):c.1320C>G (p.Asn440Lys)	rs147443162	0.00050
NM_012144.4(DNAI1):c.48+2dup	rs397515363	0.00050
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met)	rs150783688	0.00050
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys)	rs145771342	0.00050
NM_000170.3(GLDC):c.2328C>T (p.Leu776=)	rs149600380	0.00049
NM_000231.3(SGCG):c.832G>A (p.Gly278Ser)	rs147820869	0.00049
NM_000277.3(PAH):c.734T>C (p.Val245Ala)	rs76212747	0.00049
NM_000489.6(ATRX):c.2923G>A (p.Asp975Asn)	rs200709847	0.00049
NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro)	rs778646190	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_152564.5(VPS13B):c.1981G>A (p.Asp661Asn)	rs149334616	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_000246.4(CIITA):c.2651G>A (p.Arg884His)	rs374443915	0.00048
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=)	rs114687267	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.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_012144.4(DNAI1):c.1145G>A (p.Ser382Asn)	rs141690214	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_052845.4(MMAB):c.620C>T (p.Ala207Val)	rs61739388	0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	rs137852944	0.00048
NM_206933.4(USH2A):c.2052A>G (p.Gln684=)	rs111033248	0.00048
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)	rs782161942	0.00047
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)	rs143671872	0.00047
NM_000198.4(HSD3B2):c.960A>C (p.Thr320=)	rs34412477	0.00047
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln)	rs137943515	0.00047
NM_001164508.2(NEB):c.4198G>A (p.Ala1400Thr)	rs113174390	0.00047
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	rs76434661	0.00047
NM_014140.4(SMARCAL1):c.962G>A (p.Gly321Asp)	rs148752234	0.00047
NM_014363.6(SACS):c.10443C>G (p.Leu3481=)	rs144087359	0.00047
NM_138413.4(HOGA1):c.931C>T (p.Pro311Ser)	rs116455504	0.00047
NM_152564.5(VPS13B):c.10313A>G (p.Asn3438Ser)	rs146460917	0.00047
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu)	rs147281546	0.00047
NM_000035.4(ALDOB):c.619G>C (p.Glu207Gln)	rs3739721	0.00046
NM_000080.4(CHRNE):c.901G>A (p.Val301Met)	rs140023380	0.00046
NM_000136.3(FANCC):c.705C>T (p.Pro235=)	rs141828876	0.00046
NM_000274.4(OAT):c.1015-6A>G	rs561800688	0.00046
NM_000359.3(TGM1):c.383A>G (p.Glu128Gly)	rs138592626	0.00046
NM_000489.6(ATRX):c.4120+4A>C	rs200420513	0.00046
NM_000492.4(CFTR):c.274-6T>C	rs371315549	0.00046
NM_000492.4(CFTR):c.601G>A (p.Val201Met)	rs138338446	0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)	rs387906309	0.00046
NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala)	rs149974794	0.00046
NM_001164508.2(NEB):c.1045A>C (p.Lys349Gln)	rs369153778	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_006019.4(TCIRG1):c.476G>A (p.Gly159Glu)	rs199632510	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_033305.3(VPS13A):c.7920A>G (p.Gln2640=)	rs200387635	0.00046
NM_153676.4(USH1C):c.648G>A (p.Leu216=)	rs77137413	0.00046
NM_000098.3(CPT2):c.321A>G (p.Lys107=)	rs147846614	0.00045
NM_000154.2(GALK1):c.66G>A (p.Glu22=)	rs367558510	0.00045
NM_000492.4(CFTR):c.509G>A (p.Arg170His)	rs1800079	0.00045
NM_000518.5(HBB):c.316-125A>G	rs63751175	0.00045
NM_000642.3(AGL):c.39C>T (p.Asn13=)	rs138203039	0.00045
NM_004004.6(GJB2):c.*1C>T	rs111033327	0.00045
NM_004035.7(ACOX1):c.1344G>A (p.Val448=)	rs753969664	0.00045
NM_005726.6(TSFM):c.539G>C (p.Gly180Ala)	rs138534976	0.00045
NM_015506.3(MMACHC):c.277-4C>G	rs199889403	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_000282.4(PCCA):c.1002C>T (p.Thr334=)	rs150106872	0.00044
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=)	rs143762717	0.00044
NM_001369.3(DNAH5):c.1250C>G (p.Thr417Ser)	rs149202369	0.00044
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu)	rs114849139	0.00044
NM_020320.5(RARS2):c.773G>A (p.Arg258His)	rs145297855	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.6992T>A (p.Ile2331Lys)	rs200179145	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_000135.4(FANCA):c.3408+9C>G	rs377702890	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_001283009.2(RTEL1):c.1482-7C>T	rs189271525	0.00043
NM_001875.5(CPS1):c.154G>A (p.Asp52Asn)	rs141481633	0.00043
NM_003640.5(ELP1):c.948G>A (p.Pro316=)	rs148917889	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_000048.4(ASL):c.392C>T (p.Thr131Met)	rs143793815	0.00042
NM_000133.4(F9):c.8G>A (p.Arg3His)	rs148060786	0.00042
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys)	rs141367100	0.00042
NM_000260.4(MYO7A):c.186G>A (p.Thr62=)	rs368267301	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_001122769.3(LCA5):c.1642C>T (p.Pro548Ser)	rs185347145	0.00042
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile)	rs201614099	0.00042
NM_001370658.1(BTD):c.68A>G (p.His23Arg)	rs146011150	0.00042
NM_014140.4(SMARCAL1):c.1727T>C (p.Ile576Thr)	rs138819354	0.00042
NM_024312.5(GNPTAB):c.2625G>A (p.Val875=)	rs141529327	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_000018.4(ACADVL):c.1077+15C>T	rs202237278	0.00041
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_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_001039958.2(MESP2):c.185G>A (p.Arg62Gln)	rs566641514	0.00041
NM_001360.3(DHCR7):c.400G>T (p.Val134Leu)	rs201466849	0.00041
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala)	rs114615449	0.00041
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=)	rs147732875	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_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr)	rs147302249	0.00041
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=)	rs34796823	0.00041
NM_152564.5(VPS13B):c.921G>A (p.Met307Ile)	rs140709787	0.00041
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=)	rs150905331	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_000532.5(PCCB):c.914T>G (p.Ile305Ser)	rs144907014	0.00040
NM_001142800.2(EYS):c.2598C>T (p.Cys866=)	rs183814213	0.00040
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu)	rs201077964	0.00040
NM_001875.5(CPS1):c.4089G>T (p.Leu1363=)	rs368890059	0.00040
NM_002529.4(NTRK1):c.1474G>A (p.Glu492Lys)	rs144901788	0.00040
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=)	rs201087979	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_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)	rs146379816	0.00039
NM_000046.5(ARSB):c.1123G>A (p.Asp375Asn)	rs200040980	0.00039
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His)	rs146309264	0.00039
NM_000108.5(DLD):c.55C>G (p.Arg19Gly)	rs144038427	0.00039
NM_000199.5(SGSH):c.734G>A (p.Arg245His)	rs104894635	0.00039
NM_000206.3(IL2RG):c.282G>A (p.Ser94=)	rs142807857	0.00039
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)	rs111033303	0.00039
NM_000642.3(AGL):c.2941A>G (p.Ile981Val)	rs148981763	0.00039
NM_001164508.2(NEB):c.5503C>T (p.Arg1835Trp)	rs199694315	0.00039
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His)	rs200307392	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_001369.3(DNAH5):c.6409C>A (p.Leu2137Ile)	rs181884470	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_003060.4(SLC22A5):c.272A>G (p.Asn91Ser)	rs546442503	0.00039
NM_003742.4(ABCB11):c.1605C>T (p.Ala535=)	rs144848376	0.00039
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=)	rs146720775	0.00039
NM_005373.3(MPL):c.1102G>T (p.Val368Leu)	rs149810307	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_000018.4(ACADVL):c.1894C>T (p.Arg632Cys)	rs151254520	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_000057.4(BLM):c.816G>A (p.Lys272=)	rs139295905	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_000152.5(GAA):c.2109C>T (p.Tyr703=)	rs150728610	0.00038
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)	rs2229222	0.00038
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)	rs137852700	0.00038
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)	rs1800112	0.00038
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr)	rs145012038	0.00038
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=)	rs140322984	0.00038
NM_001164508.2(NEB):c.23905C>T (p.Arg7969Cys)	rs201419564	0.00038
NM_003640.5(ELP1):c.1911T>C (p.Val637=)	rs369645371	0.00038
NM_012203.2(GRHPR):c.666C>T (p.Thr222=)	rs146227450	0.00038
NM_015506.3(MMACHC):c.691T>C (p.Leu231=)	rs373198842	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_206933.4(USH2A):c.6930G>A (p.Thr2310=)	rs146406377	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_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_001369.3(DNAH5):c.3179A>T (p.Lys1060Met)	rs145672251	0.00037
NM_014140.4(SMARCAL1):c.2641A>C (p.Lys881Gln)	rs190386780	0.00037
NM_000030.3(AGXT):c.424-4T>C	rs369523966	0.00036
NM_000070.3(CAPN3):c.2409A>G (p.Gly803=)	rs143139259	0.00036
NM_000152.5(GAA):c.2652G>A (p.Thr884=)	rs143642048	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_000492.4(CFTR):c.1920T>C (p.Phe640=)	rs145877746	0.00036
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg)	rs374409854	0.00036
NM_001164508.2(NEB):c.12688A>G (p.Ile4230Val)	rs532986882	0.00036
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe)	rs192499639	0.00036
NM_001876.4(CPT1A):c.930G>C (p.Arg310=)	rs147373480	0.00036
NM_003640.5(ELP1):c.2436C>T (p.Asp812=)	rs113967847	0.00036
NM_004937.3(CTNS):c.94G>A (p.Val32Ile)	rs146684402	0.00036
NM_014844.5(TECPR2):c.3282G>A (p.Lys1094=)	rs199835341	0.00036
NM_014844.5(TECPR2):c.516A>G (p.Pro172=)	rs142385149	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_138694.4(PKHD1):c.333C>T (p.Phe111=)	rs145815264	0.00036
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val)	rs45627337	0.00036
NM_152564.5(VPS13B):c.4757A>G (p.Asn1586Ser)	rs147342579	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_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)	rs190598500	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_000198.4(HSD3B2):c.222C>T (p.Asp74=)	rs150892928	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.110A>T (p.Gln37Leu)	rs2304472	0.00035
NM_000303.3(PMM2):c.713G>A (p.Arg238His)	rs151319324	0.00035
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)	rs80338848	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.21751C>G (p.Gln7251Glu)	rs373946758	0.00035
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr)	rs142454476	0.00035
NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg)	rs201714437	0.00035
NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp)	rs564040169	0.00035
NM_003060.4(SLC22A5):c.605T>C (p.Leu202Pro)	rs142447950	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_006118.4(HAX1):c.117_122dup (p.Glu40_Gly41dup)	rs781468690	0.00035
NM_014363.6(SACS):c.3144A>G (p.Val1048=)	rs3751369	0.00035
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr)	rs143979330	0.00035
NM_138694.4(PKHD1):c.3838C>T (p.Arg1280Cys)	rs144042993	0.00035
NM_178138.6(LHX3):c.964G>A (p.Ala322Thr)	rs201356862	0.00035
NM_000033.4(ABCD1):c.1581C>T (p.Tyr527=)	rs145073701	0.00034
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)	rs139552233	0.00034
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)	rs369903995	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_000094.4(COL7A1):c.4585C>T (p.Arg1529Cys)	rs144557024	0.00034
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)	rs1801175	0.00034
NM_000199.5(SGSH):c.144G>A (p.Pro48=)	rs145970971	0.00034
NM_000243.3(MEFV):c.1344A>C (p.Ala448=)	rs143337771	0.00034
NM_000243.3(MEFV):c.2292G>T (p.Gly764=)	rs142352887	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_000466.3(PEX1):c.939T>C (p.His313=)	rs199647157	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_001142800.2(EYS):c.2137+1G>A	rs199740930	0.00034
NM_001164508.2(NEB):c.18530G>A (p.Arg6177His)	rs147159176	0.00034
NM_001164508.2(NEB):c.71C>T (p.Pro24Leu)	rs185496567	0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)	rs140522266	0.00034
NM_017739.4(POMGNT1):c.1539+1G>A	rs138642840	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_000033.4(ABCD1):c.1810G>A (p.Val604Ile)	rs151201945	0.00033
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)	rs142967546	0.00033
NM_000246.4(CIITA):c.1926C>T (p.Val642=)	rs138376967	0.00033
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)	rs75541969	0.00033
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln)	rs145272777	0.00033
NM_001164508.2(NEB):c.8125G>A (p.Val2709Ile)	rs368637389	0.00033
NM_001369.3(DNAH5):c.894C>G (p.Asn298Lys)	rs116995413	0.00033
NM_022132.5(MCCC2):c.738+9A>G	rs776559643	0.00033
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)	rs2229022	0.00032
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)	rs145022945	0.00032
NM_000199.5(SGSH):c.89-4G>A	rs375536965	0.00032
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)	rs75193786	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_001164508.2(NEB):c.18742C>T (p.Pro6248Ser)	rs189541265	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_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr)	rs374163604	0.00032
NM_012144.4(DNAI1):c.551A>G (p.Lys184Arg)	rs146203427	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_152564.5(VPS13B):c.1041A>G (p.Ser347=)	rs149176010	0.00032
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)	rs1801256	0.00031
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr)	rs138867099	0.00031
NM_000094.4(COL7A1):c.2792G>A (p.Arg931His)	rs146934952	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_000260.4(MYO7A):c.448C>A (p.Arg150=)	rs121965079	0.00031
NM_000317.3(PTS):c.17G>T (p.Gly6Val)	rs138154701	0.00031
NM_000383.4(AIRE):c.1303G>A (p.Gly435Arg)	rs373993732	0.00031
NM_000481.4(AMT):c.825T>A (p.Asn275Lys)	rs144241950	0.00031
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr)	rs374524755	0.00031
NM_000532.5(PCCB):c.180G>A (p.Lys60=)	rs140636870	0.00031
NM_000642.3(AGL):c.1333A>G (p.Met445Val)	rs140375476	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_001164508.2(NEB):c.6817A>G (p.Lys2273Glu)	rs199700878	0.00031
NM_001360.3(DHCR7):c.126C>T (p.Ser42=)	rs150928869	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_002435.3(MPI):c.214A>C (p.Ser72Arg)	rs146699267	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_014363.6(SACS):c.10008A>G (p.Lys3336=)	rs148971954	0.00031
NM_014363.6(SACS):c.2580A>G (p.Gln860=)	rs41283958	0.00031
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=)	rs886062952	0.00031
NM_152564.5(VPS13B):c.885C>T (p.Gly295=)	rs143112539	0.00031
NM_172250.3(MMAA):c.393A>T (p.Arg131Ser)	rs371714495	0.00031
NM_182760.4(SUMF1):c.891C>T (p.Asn297=)	rs143754187	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_000092.5(COL4A4):c.541G>T (p.Ala181Ser)	rs200707549	0.00030
NM_000094.4(COL7A1):c.853G>A (p.Val285Ile)	rs142568125	0.00030
NM_000199.5(SGSH):c.999C>T (p.Tyr333=)	rs149139346	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_000271.5(NPC1):c.3717C>T (p.His1239=)	rs34624018	0.00030
NM_000382.3(ALDH3A2):c.417G>A (p.Leu139=)	rs200806435	0.00030
NM_000528.4(MAN2B1):c.1906C>T (p.Pro636Ser)	rs141276889	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_006623.4(PHGDH):c.296C>G (p.Pro99Arg)	rs182600362	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.11114A>T (p.Glu3705Val)	rs376308074	0.00030
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=)	rs141637316	0.00030
NM_152564.5(VPS13B):c.4452T>C (p.Asn1484=)	rs148033080	0.00030
NM_000022.4(ADA):c.975+8G>A	rs192148185	0.00029
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile)	rs3092831	0.00029
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=)	rs372456815	0.00029
NM_000057.4(BLM):c.43C>T (p.Arg15Cys)	rs148545569	0.00029
NM_000070.3(CAPN3):c.1842G>C (p.Glu614Asp)	rs201607149	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_000199.5(SGSH):c.6C>T (p.Ser2=)	rs1043643087	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_000271.5(NPC1):c.3246-8C>T	rs145227129	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_000492.4(CFTR):c.3558A>G (p.Gln1186=)	rs1800121	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_001142800.2(EYS):c.5577C>T (p.Pro1859=)	rs747911999	0.00029
NM_001164508.2(NEB):c.12492A>C (p.Pro4164=)	rs1462106212	0.00029
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile)	rs202139330	0.00029
NM_001164508.2(NEB):c.20162T>C (p.Leu6721Pro)	rs111517514	0.00029
NM_001164508.2(NEB):c.23013C>T (p.Ser7671=)	rs370873040	0.00029
NM_001164508.2(NEB):c.5696C>T (p.Thr1899Ile)	rs202234374	0.00029
NM_001360.3(DHCR7):c.28C>G (p.Pro10Ala)	rs139166382	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.1785C>T (p.Ile595=)	rs145825654	0.00029
NM_014140.4(SMARCAL1):c.1948G>A (p.Val650Ile)	rs200734842	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_000049.4(ASPA):c.854A>C (p.Glu285Ala)	rs28940279	0.00028
NM_000098.3(CPT2):c.500G>A (p.Arg167Gln)	rs144760921	0.00028
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr)	rs201407189	0.00028
NM_000170.3(GLDC):c.2874C>T (p.Ser958=)	rs146339375	0.00028
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro)	rs563417983	0.00028
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met)	rs141650598	0.00028
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser)	rs754130942	0.00028
NM_000531.6(OTC):c.941A>C (p.Glu314Ala)	rs137899554	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_000023.4(SGCA):c.662G>A (p.Arg221His)	rs138254713	0.00027
NM_000158.4(GBE1):c.990C>T (p.Ser330=)	rs371194644	0.00027
NM_000271.5(NPC1):c.1011G>T (p.Arg337=)	rs147795644	0.00027
NM_000303.3(PMM2):c.366C>T (p.Phe122=)	rs145714866	0.00027
NM_000360.4(TH):c.627C>G (p.Ile209Met)	rs202149985	0.00027
NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln)	rs11554970	0.00027
NM_000642.3(AGL):c.4450G>A (p.Val1484Ile)	rs75076115	0.00027
NM_001126108.2(SLC12A3):c.742-6C>T	rs370741134	0.00027
NM_001164508.2(NEB):c.24453G>A (p.Glu8151=)	rs372540293	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_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_000018.4(ACADVL):c.1533-4T>A	rs369986567	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_000080.4(CHRNE):c.23T>C (p.Val8Ala)	rs199807050	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_000154.2(GALK1):c.-22T>C	rs545362817	0.00026
NM_000282.4(PCCA):c.660C>T (p.Ala220=)	rs145826296	0.00026
NM_000317.3(PTS):c.195T>C (p.Pro65=)	rs143472856	0.00026
NM_000352.6(ABCC8):c.3111C>T (p.Thr1037=)	rs201662945	0.00026
NM_000360.4(TH):c.594G>T (p.Val198=)	rs544661832	0.00026
NM_000478.6(ALPL):c.1002C>T (p.Gly334=)	rs370122334	0.00026
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)	rs141723617	0.00026
NM_000498.3(CYP11B2):c.1353C>T (p.Leu451=)	rs371126595	0.00026
NM_000527.5(LDLR):c.1875C>T (p.Asn625=)	rs137853962	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.24897G>C (p.Glu8299Asp)	rs202145313	0.00026
NM_001164508.2(NEB):c.3007G>C (p.Val1003Leu)	rs149471462	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_001360.3(DHCR7):c.586A>G (p.Met196Val)	rs200474791	0.00026
NM_001369.3(DNAH5):c.2431+5G>A	rs369244905	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.1313A>G (p.Lys438Arg)	rs186138859	0.00026
NM_001384474.1(LOXHD1):c.231C>T (p.Leu77=)	rs200306249	0.00026
NM_001399.5(EDA):c.464G>A (p.Arg155His)	rs144403117	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_005609.4(PYGM):c.1870G>A (p.Val624Ile)	rs143217651	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_014244.5(ADAMTS2):c.770C>A (p.Ala257Glu)	rs370679548	0.00026
NM_014297.5(ETHE1):c.150G>C (p.Leu50=)	rs142193567	0.00026
NM_014844.5(TECPR2):c.978C>T (p.Ser326=)	rs142082203	0.00026
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu)	rs142348911	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_000071.3(CBS):c.33G>A (p.Gly11=)	rs567323664	0.00025
NM_000094.4(COL7A1):c.3086C>T (p.Thr1029Met)	rs376090628	0.00025
NM_000169.3(GLA):c.-44C>T	rs781906252	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_000528.4(MAN2B1):c.1158G>A (p.Gln386=)	rs112829030	0.00025
NM_001164508.2(NEB):c.18948T>A (p.Asp6316Glu)	rs370206339	0.00025
NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met)	rs148123430	0.00025
NM_001369.3(DNAH5):c.7684A>T (p.Ile2562Phe)	rs151287187	0.00025
NM_001875.5(CPS1):c.2421G>A (p.Glu807=)	rs140726293	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_006019.4(TCIRG1):c.2193C>T (p.Thr731=)	rs141601593	0.00025
NM_012434.5(SLC17A5):c.6G>A (p.Arg2=)	rs374582872	0.00025
NM_020320.5(RARS2):c.207A>G (p.Ala69=)	rs568483789	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_054012.4(ASS1):c.1168G>A (p.Gly390Arg)	rs121908641	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_152618.3(BBS12):c.1257C>T (p.Ser419=)	rs34652786	0.00025
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg)	rs201131924	0.00024
NM_000033.4(ABCD1):c.1117A>G (p.Lys373Glu)	rs368606000	0.00024
NM_000094.4(COL7A1):c.7417G>A (p.Glu2473Lys)	rs199819125	0.00024
NM_000098.3(CPT2):c.1519G>A (p.Val507Ile)	rs142600166	0.00024
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly)	rs762648754	0.00024
NM_000152.5(GAA):c.922C>T (p.His308Tyr)	rs112025212	0.00024
NM_000154.2(GALK1):c.447G>A (p.Thr149=)	rs765744088	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_000246.4(CIITA):c.2817-10T>C	rs75381106	0.00024
NM_000255.4(MMUT):c.1008G>A (p.Met336Ile)	rs150095448	0.00024
NM_000352.6(ABCC8):c.105G>A (p.Pro35=)	rs199925058	0.00024
NM_000359.3(TGM1):c.167C>T (p.Ala56Val)	rs147479810	0.00024
NM_000481.4(AMT):c.152C>T (p.Ala51Val)	rs34812788	0.00024
NM_000481.4(AMT):c.635T>C (p.Val212Ala)	rs201141125	0.00024
NM_000489.6(ATRX):c.1825C>G (p.Pro609Ala)	rs186742436	0.00024
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=)	rs137960127	0.00024
NM_001126108.2(SLC12A3):c.2856+1G>T	rs199974259	0.00024
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg)	rs367857088	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_001243279.3(ACSF3):c.1502-4G>A	rs111414659	0.00024
NM_001360.3(DHCR7):c.987C>T (p.Pro329=)	rs145901607	0.00024
NM_001369.3(DNAH5):c.10435G>A (p.Ala3479Thr)	rs143295106	0.00024
NM_001369.3(DNAH5):c.13174T>C (p.Phe4392Leu)	rs369714206	0.00024
NM_001369.3(DNAH5):c.367C>T (p.Leu123Phe)	rs148017278	0.00024
NM_001369.3(DNAH5):c.6731A>T (p.Lys2244Met)	rs187023993	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_014363.6(SACS):c.8577C>T (p.His2859=)	rs140016265	0.00024
NM_031885.5(BBS2):c.1104C>T (p.Asn368=)	rs141731677	0.00024
NM_130849.4(SLC39A4):c.1126G>A (p.Ala376Thr)	rs200073988	0.00024
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)	rs149798764	0.00024
NM_138694.4(PKHD1):c.1257C>T (p.Val419=)	rs374650666	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_205861.3(DHDDS):c.908C>T (p.Ser303Leu)	rs141852437	0.00024
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_000102.4(CYP17A1):c.1458C>T (p.Ile486=)	rs147557447	0.00023
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala)	rs200219480	0.00023
NM_000199.5(SGSH):c.780C>T (p.Ala260=)	rs530964770	0.00023
NM_000206.3(IL2RG):c.78A>T (p.Thr26=)	rs147424359	0.00023
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)	rs199475598	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_001164508.2(NEB):c.1899A>T (p.Arg633Ser)	rs77826191	0.00023
NM_001164508.2(NEB):c.2343G>A (p.Lys781=)	rs191610670	0.00023
NM_001164508.2(NEB):c.5181C>T (p.Tyr1727=)	rs35016946	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_001378454.1(ALMS1):c.11070C>T (p.Gly3690=)	rs371329585	0.00023
NM_002529.4(NTRK1):c.641G>A (p.Arg214Gln)	rs200132482	0.00023
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys)	rs150775371	0.00023
NM_004646.4(NPHS1):c.65C>T (p.Ala22Val)	rs116617171	0.00023
NM_005609.4(PYGM):c.1527G>T (p.Gly509=)	rs114730784	0.00023
NM_033305.3(VPS13A):c.5594C>T (p.Thr1865Ile)	rs143449578	0.00023
NM_130849.4(SLC39A4):c.615C>T (p.Phe205=)	rs201681875	0.00023
NM_138694.4(PKHD1):c.935G>A (p.Arg312Gln)	rs140781915	0.00023
NM_152564.5(VPS13B):c.2124T>C (p.Ala708=)	rs201650333	0.00023
NM_213653.4(HJV):c.435G>C (p.Pro145=)	rs370184725	0.00023
NM_000030.3(AGXT):c.145A>C (p.Met49Leu)	rs74205173	0.00022
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser)	rs2235011	0.00022
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=)	rs200324179	0.00022
NM_000098.3(CPT2):c.912G>T (p.Gln304His)	rs141553491	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_000237.3(LPL):c.687T>C (p.His229=)	rs45607438	0.00022
NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg)	rs150430628	0.00022
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)	rs5030849	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_000487.6(ARSA):c.982G>A (p.Val328Met)	rs143994992	0.00022
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)	rs75527207	0.00022
NM_000518.5(HBB):c.246C>A (p.Leu82=)	rs145669504	0.00022
NM_000518.5(HBB):c.294C>T (p.His98=)	rs34515413	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.4082C>G (p.Pro1361Arg)	rs145533843	0.00022
NM_001384474.1(LOXHD1):c.1970+9G>A	rs532438706	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_023036.6(DNAI2):c.1599C>T (p.Thr533=)	rs139915367	0.00022
NM_024312.5(GNPTAB):c.70T>G (p.Phe24Val)	rs141329633	0.00022
NM_032520.5(GNPTG):c.67G>C (p.Gly23Arg)	rs547624231	0.00022
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr)	rs147351244	0.00022
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala)	rs142971568	0.00022
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala)	rs145392789	0.00022
NM_000022.4(ADA):c.986C>T (p.Ala329Val)	rs121908715	0.00021
NM_000051.4(ATM):c.4871A>G (p.His1624Arg)	rs56354559	0.00021
NM_000094.4(COL7A1):c.1241-4G>A	rs201605314	0.00021
NM_000094.4(COL7A1):c.4508C>T (p.Ala1503Val)	rs150332158	0.00021
NM_000135.4(FANCA):c.3723C>T (p.Asn1241=)	rs202107465	0.00021
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=)	rs142784426	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_000199.5(SGSH):c.220C>T (p.Arg74Cys)	rs104894636	0.00021
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp)	rs104895210	0.00021
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)	rs368341987	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_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.1268A>G (p.Asn423Ser)	rs200857848	0.00021
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val)	rs145350631	0.00021
NM_000518.5(HBB):c.-138C>T	rs33944208	0.00021
NM_000520.6(HEXA):c.1073+1G>A	rs76173977	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.19675G>A (p.Val6559Ile)	rs189232206	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_001369.3(DNAH5):c.10815del (p.Pro3606fs)	rs397515540	0.00021
NM_001369.3(DNAH5):c.3760C>T (p.Arg1254Trp)	rs749162833	0.00021
NM_001369.3(DNAH5):c.39C>T (p.Ser13=)	rs370788337	0.00021
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=)	rs201478438	0.00021
NM_001384474.1(LOXHD1):c.1887C>T (p.Ser629=)	rs189550119	0.00021
NM_001384474.1(LOXHD1):c.1944C>T (p.Ser648=)	rs369039902	0.00021
NM_001875.5(CPS1):c.234A>G (p.Gly78=)	rs182678639	0.00021
NM_001875.5(CPS1):c.5C>T (p.Thr2Met)	rs150314086	0.00021
NM_003640.5(ELP1):c.1878C>T (p.Asp626=)	rs141596257	0.00021
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	rs80338948	0.00021
NM_005373.3(MPL):c.209C>T (p.Pro70Leu)	rs61754776	0.00021
NM_014844.5(TECPR2):c.2280C>T (p.His760=)	rs61744796	0.00021
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu)	rs201806708	0.00021
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val)	rs143156315	0.00021
NM_023036.6(DNAI2):c.1723-1G>T	rs201909971	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_206933.4(USH2A):c.5844T>C (p.Arg1948=)	rs147930567	0.00021
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val)	rs150038447	0.00020
NM_000092.5(COL4A4):c.193-9C>G	rs190570269	0.00020
NM_000094.4(COL7A1):c.3107G>A (p.Arg1036Gln)	rs150873722	0.00020
NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu)	rs145068043	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_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.506G>A (p.Arg169His)	rs199475679	0.00020
NM_000382.3(ALDH3A2):c.1188T>G (p.Ser396=)	rs144496536	0.00020
NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=)	rs150860491	0.00020
NM_000528.4(MAN2B1):c.34G>A (p.Ala12Thr)	rs747538432	0.00020
NM_000642.3(AGL):c.1537A>T (p.Thr513Ser)	rs143987049	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_001243279.3(ACSF3):c.1704G>A (p.Ala568=)	rs539500659	0.00020
NM_001283009.2(RTEL1):c.1581C>T (p.Ser527=)	rs78258482	0.00020
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser)	rs199922877	0.00020
NM_001692.4(ATP6V1B1):c.40G>A (p.Gly14Ser)	rs111306070	0.00020
NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr)	rs189174414	0.00020
NM_012144.4(DNAI1):c.1454C>T (p.Thr485Met)	rs137935543	0.00020
NM_012144.4(DNAI1):c.180G>A (p.Ala60=)	rs201120508	0.00020
NM_013339.4(ALG6):c.882T>C (p.Arg294=)	rs145894044	0.00020
NM_014363.6(SACS):c.7200T>C (p.Phe2400=)	rs148544893	0.00020
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)	rs138011813	0.00020
NM_201548.5(CERKL):c.900T>C (p.His300=)	rs183252158	0.00020
NM_000016.6(ACADM):c.468+62C>T	rs875989870	0.00019
NM_000023.4(SGCA):c.37+10G>T	rs200626376	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_000051.4(ATM):c.4768C>T (p.Leu1590Phe)	rs35962982	0.00019
NM_000053.4(ATP7B):c.740A>G (p.Glu247Gly)	rs376398239	0.00019
NM_000092.5(COL4A4):c.4195A>T (p.Met1399Leu)	rs149117087	0.00019
NM_000128.4(F11):c.1767G>T (p.Leu589=)	rs142054643	0.00019
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg)	rs61757383	0.00019
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro)	rs147672303	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.1272G>A (p.Gln424=)	rs376675180	0.00019
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys)	rs146286491	0.00019
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)	rs121434369	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_000243.3(MEFV):c.1038C>G (p.Gly346=)	rs141090517	0.00019
NM_000274.4(OAT):c.107G>C (p.Gly36Ala)	rs140786333	0.00019
NM_000277.3(PAH):c.399T>C (p.Asn133=)	rs145692106	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_000383.4(AIRE):c.538+7G>A	rs575144370	0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)	rs137853096	0.00019
NM_000520.6(HEXA):c.1216C>T (p.Leu406=)	rs140482769	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_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.25359A>C (p.Gln8453His)	rs377748897	0.00019
NM_001164508.2(NEB):c.2771A>C (p.Tyr924Ser)	rs199903114	0.00019
NM_001164508.2(NEB):c.4149C>T (p.Thr1383=)	rs148794372	0.00019
NM_001164508.2(NEB):c.9067G>A (p.Val3023Met)	rs377375638	0.00019
NM_001243279.3(ACSF3):c.1456G>A (p.Ala486Thr)	rs192339782	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.12367C>T (p.His4123Tyr)	rs151145750	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_001369.3(DNAH5):c.8999G>A (p.Arg3000Gln)	rs137949961	0.00019
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg)	rs373366352	0.00019
NM_001692.4(ATP6V1B1):c.1332C>T (p.Leu444=)	rs372223196	0.00019
NM_002485.5(NBN):c.37+6G>A	rs540868733	0.00019
NM_004035.7(ACOX1):c.574C>A (p.Gln192Lys)	rs200833797	0.00019
NM_004453.4(ETFDH):c.1048C>T (p.Arg350Trp)	rs375172942	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_006261.5(PROP1):c.96G>A (p.Pro32=)	rs144314831	0.00019
NM_014251.3(SLC25A13):c.1354G>A (p.Val452Ile)	rs143877538	0.00019
NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr)	rs138958351	0.00019
NM_014363.6(SACS):c.7647T>G (p.Leu2549=)	rs186301471	0.00019
NM_014363.6(SACS):c.99T>C (p.Asp33=)	rs775206528	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.60C>T (p.Pro20=)	rs202247664	0.00019
NM_133259.4(LRPPRC):c.1929C>T (p.His643=)	rs200017171	0.00019
NM_138694.4(PKHD1):c.3984C>T (p.Val1328=)	rs182468850	0.00019
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=)	rs147251143	0.00019
NM_152564.5(VPS13B):c.4225-6G>A	rs199755508	0.00019
NM_206933.4(USH2A):c.1539C>T (p.Thr513=)	rs199939890	0.00019
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr)	rs555219189	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_000152.5(GAA):c.1232G>A (p.Arg411Gln)	rs372799904	0.00018
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)	rs138577661	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_000170.3(GLDC):c.1581-5C>T	rs184463452	0.00018
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp)	rs200138397	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_000528.4(MAN2B1):c.2404A>G (p.Ser802Gly)	rs141391488	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.20896C>T (p.Arg6966Cys)	rs115623365	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.3964G>T (p.Ala1322Ser)	rs376611641	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_001384474.1(LOXHD1):c.6243T>C (p.Cys2081=)	rs199645176	0.00018
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr)	rs200569046	0.00018
NM_002529.4(NTRK1):c.504C>T (p.Gly168=)	rs144594313	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_007259.5(VPS45):c.625G>T (p.Val209Phe)	rs201955039	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_152564.5(VPS13B):c.9369C>T (p.Cys3123=)	rs745668942	0.00018
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)	rs374963432	0.00018
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)	rs201375579	0.00017
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)	rs138398778	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_000152.5(GAA):c.2561G>A (p.Arg854Gln)	rs149968110	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.1245C>T (p.Val415=)	rs104895195	0.00017
NM_000255.4(MMUT):c.1333-8C>T	rs199555550	0.00017
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu)	rs190298665	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_000352.6(ABCC8):c.3345G>A (p.Thr1115=)	rs186634115	0.00017
NM_000360.4(TH):c.679G>A (p.Glu227Lys)	rs536382000	0.00017
NM_000441.2(SLC26A4):c.919-18T>G	rs767147359	0.00017
NM_000481.4(AMT):c.363C>T (p.Asn121=)	rs367604855	0.00017
NM_000642.3(AGL):c.3884G>A (p.Arg1295His)	rs140481863	0.00017
NM_001033855.3(DCLRE1C):c.1545A>G (p.Gly515=)	rs41300672	0.00017
NM_001164508.2(NEB):c.24096T>G (p.Asn8032Lys)	rs770023115	0.00017
NM_001164508.2(NEB):c.367C>T (p.Arg123Cys)	rs200555425	0.00017
NM_001164508.2(NEB):c.6807+10T>C	rs375723456	0.00017
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg)	rs200586877	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_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=)	rs79606317	0.00017
NM_014363.6(SACS):c.11928T>C (p.Ser3976=)	rs145680118	0.00017
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val)	rs104886192	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_000033.4(ABCD1):c.1902C>T (p.Ala634=)	rs141110958	0.00016
NM_000053.4(ATP7B):c.445G>A (p.Val149Met)	rs200606656	0.00016
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)	rs147764579	0.00016
NM_000080.4(CHRNE):c.797C>T (p.Ala266Val)	rs201463598	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_000103.4(CYP19A1):c.721T>A (p.Tyr241Asn)	rs143562020	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_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_000271.5(NPC1):c.233G>A (p.Arg78Gln)	rs373274825	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_000360.4(TH):c.585G>A (p.Ser195=)	rs376615793	0.00016
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)	rs111033244	0.00016
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=)	rs187447337	0.00016
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)	rs200752969	0.00016
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)	rs121918019	0.00016
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu)	rs200735475	0.00016
NM_000520.6(HEXA):c.582G>A (p.Ala194=)	rs112614306	0.00016
NM_000521.4(HEXB):c.1670A>G (p.Ter557=)	rs576145664	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.2966A>G (p.Asn989Ser)	rs753397171	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_000642.3(AGL):c.4575T>A (p.Ile1525=)	rs372116308	0.00016
NM_000784.4(CYP27A1):c.1184+9G>T	rs200457116	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.5025T>C (p.Ser1675=)	rs995130689	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.20440C>T (p.Arg6814Cys)	rs765806782	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.3444G>A (p.Ala1148=)	rs375569766	0.00016
NM_001164508.2(NEB):c.3879+8G>A	rs376511134	0.00016
NM_001164508.2(NEB):c.7309C>T (p.Arg2437Trp)	rs375164626	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_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_005609.4(PYGM):c.951C>T (p.Phe317=)	rs71581789	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.3752T>C (p.Ile1251Thr)	rs76872266	0.00016
NM_014363.6(SACS):c.4302A>G (p.Leu1434=)	rs34559250	0.00016
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)	rs139003032	0.00016
NM_023036.6(DNAI2):c.1146G>A (p.Thr382=)	rs142571722	0.00016
NM_025216.3(WNT10A):c.1017C>T (p.Phe339=)	rs531326479	0.00016
NM_054012.4(ASS1):c.174+4C>A	rs368133957	0.00016
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=)	rs200511208	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_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu)	rs145141656	0.00016
NM_152564.5(VPS13B):c.11656G>A (p.Val3886Ile)	rs141793014	0.00016
NM_152564.5(VPS13B):c.11787C>T (p.Asn3929=)	rs147710096	0.00016
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe)	rs145419141	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_205861.3(DHDDS):c.564T>C (p.Leu188=)	rs371976956	0.00016
NM_206933.4(USH2A):c.12399G>A (p.Glu4133=)	rs150406015	0.00016
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr)	rs528342000	0.00016
NM_000033.4(ABCD1):c.901-5C>T	rs782603062	0.00015
NM_000051.4(ATM):c.2887A>G (p.Met963Val)	rs374353016	0.00015
NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr)	rs202218969	0.00015
NM_000057.4(BLM):c.274A>G (p.Asn92Asp)	rs200690226	0.00015
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)	rs141656719	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_000094.4(COL7A1):c.630C>T (p.Leu210=)	rs117857033	0.00015
NM_000128.4(F11):c.596-6G>A	rs369721182	0.00015
NM_000135.4(FANCA):c.1413C>T (p.Val471=)	rs201561753	0.00015
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe)	rs149775657	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_000271.5(NPC1):c.2501T>C (p.Met834Thr)	rs373435883	0.00015
NM_000383.4(AIRE):c.600G>A (p.Pro200=)	rs754331960	0.00015
NM_000396.4(CTSK):c.169A>G (p.Ile57Val)	rs201446793	0.00015
NM_000466.3(PEX1):c.2558T>C (p.Met853Thr)	rs143283146	0.00015
NM_000492.4(CFTR):c.360G>A (p.Ala120=)	rs1800077	0.00015
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)	rs121907954	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_001164508.2(NEB):c.10583G>A (p.Arg3528His)	rs199584268	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.22535C>T (p.Pro7512Leu)	rs376609115	0.00015
NM_001243279.3(ACSF3):c.285G>A (p.Glu95=)	rs187962814	0.00015
NM_001384474.1(LOXHD1):c.3951C>A (p.Val1317=)	rs779507390	0.00015
NM_004646.4(NPHS1):c.1104G>A (p.Pro368=)	rs143178785	0.00015
NM_138694.4(PKHD1):c.10888C>T (p.His3630Tyr)	rs145219220	0.00015
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro)	rs199900211	0.00015
NM_153717.3(EVC):c.105C>A (p.Gly35=)	rs745558003	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_000022.4(ADA):c.591T>A (p.His197Gln)	rs142456343	0.00014
NM_000022.4(ADA):c.864T>G (p.Ala288=)	rs146614184	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_000051.4(ATM):c.3077+4G>A	rs201222237	0.00014
NM_000053.4(ATP7B):c.2475G>A (p.Val825=)	rs373528664	0.00014
NM_000053.4(ATP7B):c.3006C>T (p.Ala1002=)	rs369620062	0.00014
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe)	rs200563529	0.00014
NM_000091.5(COL4A3):c.3751+7G>A	rs750554079	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_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)	rs104893924	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_000151.4(G6PC1):c.694G>A (p.Val232Ile)	rs145172999	0.00014
NM_000151.4(G6PC1):c.992C>T (p.Ala331Val)	rs149486847	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_000170.3(GLDC):c.1974C>A (p.Ala658=)	rs534062853	0.00014
NM_000243.3(MEFV):c.331G>A (p.Gly111Arg)	rs112739451	0.00014
NM_000246.4(CIITA):c.1047T>C (p.Tyr349=)	rs144735718	0.00014
NM_000246.4(CIITA):c.1230G>A (p.Pro410=)	rs199476069	0.00014
NM_000246.4(CIITA):c.1542G>A (p.Thr514=)	rs2228239	0.00014
NM_000246.4(CIITA):c.1791C>G (p.Leu597=)	rs201657235	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.880-7G>A	rs141955483	0.00014
NM_000532.5(PCCB):c.654+3A>C	rs199886085	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_001079866.2(BCS1L):c.822G>A (p.Pro274=)	rs112329020	0.00014
NM_001126108.2(SLC12A3):c.1968G>A (p.Pro656=)	rs150378634	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.1544A>G (p.Gln515Arg)	rs368150737	0.00014
NM_001164508.2(NEB):c.18646T>C (p.Phe6216Leu)	rs202211102	0.00014
NM_001164508.2(NEB):c.19358C>T (p.Thr6453Met)	rs370810654	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.7342C>T (p.Arg2448Cys)	rs576076237	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_001352514.2(HLCS):c.1843G>C (p.Val615Leu)	rs376210604	0.00014
NM_001369.3(DNAH5):c.12189G>A (p.Gly4063=)	rs144879072	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_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)	rs201728850	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_003060.4(SLC22A5):c.1440C>T (p.Phe480=)	rs150457229	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_004629.2(FANCG):c.881G>A (p.Gly294Glu)	rs17880082	0.00014
NM_005957.5(MTHFR):c.903G>A (p.Leu301=)	rs147979890	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_012434.5(SLC17A5):c.1365A>G (p.Glu455=)	rs192599733	0.00014
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys)	rs150283105	0.00014
NM_014244.5(ADAMTS2):c.167G>A (p.Arg56His)	rs201167346	0.00014
NM_014251.3(SLC25A13):c.1275G>A (p.Ser425=)	rs376416252	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_022132.5(MCCC2):c.295G>C (p.Glu99Gln)	rs119103219	0.00014
NM_023036.6(DNAI2):c.1202T>C (p.Met401Thr)	rs146769635	0.00014
NM_024685.4(BBS10):c.372T>A (p.Ser124=)	rs143366878	0.00014
NM_032520.5(GNPTG):c.502G>A (p.Val168Ile)	rs190614894	0.00014
NM_052845.4(MMAB):c.444G>A (p.Gly148=)	rs117269384	0.00014
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)	rs28941784	0.00014
NM_054012.4(ASS1):c.1165A>G (p.Thr389Ala)	rs145288815	0.00014
NM_054012.4(ASS1):c.858A>T (p.Ala286=)	rs201905628	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.812T>A (p.Leu271His)	rs750887164	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.1843+10T>C	rs371154826	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_152564.5(VPS13B):c.934A>G (p.Thr312Ala)	rs780702951	0.00014
NM_201525.4(ADGRG1):c.1188C>T (p.Asp396=)	rs368883473	0.00014
NM_201525.4(ADGRG1):c.1287-6G>A	rs112805221	0.00014
NM_205861.3(DHDDS):c.990T>C (p.Thr330=)	rs773902080	0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)	rs121434274	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_000051.4(ATM):c.8671+9T>G	rs200190537	0.00013
NM_000057.4(BLM):c.3828G>A (p.Ala1276=)	rs369383272	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_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_000135.4(FANCA):c.2852G>A (p.Arg951Gln)	rs755922289	0.00013
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala)	rs200713354	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_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.3003C>T (p.Asp1001=)	rs143497260	0.00013
NM_000274.4(OAT):c.736C>T (p.Leu246=)	rs146882296	0.00013
NM_000352.6(ABCC8):c.1818-6G>A	rs368708177	0.00013
NM_000352.6(ABCC8):c.3984C>T (p.Leu1328=)	rs368419322	0.00013
NM_000489.6(ATRX):c.2650G>A (p.Glu884Lys)	rs200343648	0.00013
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)	rs121908752	0.00013
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val)	rs555292896	0.00013
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)	rs137852870	0.00013
NM_001039958.2(MESP2):c.306C>A (p.His102Gln)	rs77473319	0.00013
NM_001142800.2(EYS):c.5104T>C (p.Leu1702=)	rs564151798	0.00013
NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser)	rs199710125	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_001243279.3(ACSF3):c.1398C>T (p.Tyr466=)	rs200146632	0.00013
NM_001365088.1(SLC12A6):c.2565G>A (p.Thr855=)	rs201062811	0.00013
NM_001369.3(DNAH5):c.2306C>T (p.Ala769Val)	rs200101760	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.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_003227.4(TFR2):c.1863C>T (p.Ala621=)	rs374489702	0.00013
NM_003982.4(SLC7A7):c.339A>C (p.Gly113=)	rs139270936	0.00013
NM_012144.4(DNAI1):c.1195G>A (p.Val399Met)	rs150261456	0.00013
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter)	rs119473033	0.00013
NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp)	rs34258482	0.00013
NM_018006.5(TRMU):c.1158G>A (p.Leu386=)	rs79874854	0.00013
NM_020533.3(MCOLN1):c.216G>A (p.Lys72=)	rs369176493	0.00013
NM_020533.3(MCOLN1):c.339G>A (p.Ala113=)	rs180687633	0.00013
NM_033305.3(VPS13A):c.5047A>G (p.Thr1683Ala)	rs371138709	0.00013
NM_138694.4(PKHD1):c.1201C>A (p.His401Asn)	rs192769565	0.00013
NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly)	rs201566948	0.00013
NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser)	rs576577339	0.00013
NM_000051.4(ATM):c.3628A>G (p.Met1210Val)	rs138212452	0.00012
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr)	rs199773340	0.00012
NM_000070.3(CAPN3):c.2106G>A (p.Ala702=)	rs144260889	0.00012
NM_000108.5(DLD):c.549G>A (p.Thr183=)	rs150630885	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_000154.2(GALK1):c.1044C>T (p.Phe348=)	rs372653001	0.00012
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter)	rs191905539	0.00012
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys)	rs200761715	0.00012
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	rs61752717	0.00012
NM_000246.4(CIITA):c.1908G>A (p.Thr636=)	rs200398959	0.00012
NM_000246.4(CIITA):c.772+8C>T	rs557455283	0.00012
NM_000359.3(TGM1):c.885C>T (p.His295=)	rs186352813	0.00012
NM_000481.4(AMT):c.961G>A (p.Val321Met)	rs149457059	0.00012
NM_000489.6(ATRX):c.7256A>G (p.Asn2419Ser)	rs781853125	0.00012
NM_000492.4(CFTR):c.4092G>A (p.Ala1364=)	rs148878126	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_000784.4(CYP27A1):c.578G>A (p.Arg193Gln)	rs181649030	0.00012
NM_001033855.3(DCLRE1C):c.1990C>T (p.Arg664Ter)	rs200693133	0.00012
NM_001113525.2(ZNF276):c.*1313A>G	rs368376237	0.00012
NM_001122769.3(LCA5):c.1260G>A (p.Lys420=)	rs141642284	0.00012
NM_001164508.2(NEB):c.16984G>A (p.Ala5662Thr)	rs375294508	0.00012
NM_001164508.2(NEB):c.18398A>G (p.Lys6133Arg)	rs199594449	0.00012
NM_001164508.2(NEB):c.18800T>C (p.Leu6267Pro)	rs184723737	0.00012
NM_001164508.2(NEB):c.18809G>A (p.Arg6270Gln)	rs372804439	0.00012
NM_001164508.2(NEB):c.21406A>T (p.Met7136Leu)	rs886038447	0.00012
NM_001164508.2(NEB):c.293C>T (p.Pro98Leu)	rs201473194	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_001283009.2(RTEL1):c.3407C>G (p.Thr1136Ser)	rs150686112	0.00012
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys)	rs200453837	0.00012
NM_001369.3(DNAH5):c.7943C>T (p.Ala2648Val)	rs201939338	0.00012
NM_001369.3(DNAH5):c.8512A>C (p.Ser2838Arg)	rs763198301	0.00012
NM_001369.3(DNAH5):c.8837G>A (p.Arg2946His)	rs140975593	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_001692.4(ATP6V1B1):c.926A>G (p.Glu309Gly)	rs201556073	0.00012
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val)	rs200912109	0.00012
NM_012144.4(DNAI1):c.1929C>A (p.Ile643=)	rs146434058	0.00012
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly)	rs142236568	0.00012
NM_024312.5(GNPTAB):c.2028G>A (p.Pro676=)	rs192607073	0.00012
NM_033159.4(HYAL1):c.1041C>T (p.Phe347=)	rs377105091	0.00012
NM_138694.4(PKHD1):c.3090G>A (p.Ala1030=)	rs557162970	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_152564.5(VPS13B):c.2470T>G (p.Ser824Ala)	rs149866274	0.00012
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu)	rs375399419	0.00012
NM_000018.4(ACADVL):c.*8C>T	rs370513576	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_000048.4(ASL):c.1047C>G (p.Val349=)	rs187877947	0.00011
NM_000048.4(ASL):c.1278C>T (p.Cys426=)	rs140770112	0.00011
NM_000049.4(ASPA):c.78C>T (p.Thr26=)	rs145616193	0.00011
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=)	rs370947152	0.00011
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln)	rs201770808	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.8094C>T (p.Gly2698=)	rs199936185	0.00011
NM_000098.3(CPT2):c.45G>T (p.Ala15=)	rs761850684	0.00011
NM_000135.4(FANCA):c.2029G>A (p.Val677Met)	rs767396631	0.00011
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser)	rs575108446	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_000170.3(GLDC):c.1926+6T>C	rs200007891	0.00011
NM_000170.3(GLDC):c.2149A>G (p.Ile717Val)	rs117460214	0.00011
NM_000198.4(HSD3B2):c.423C>T (p.His141=)	rs751470493	0.00011
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr)	rs746809894	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_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_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr)	rs202080237	0.00011
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=)	rs367668576	0.00011
NM_000271.5(NPC1):c.1431G>A (p.Thr477=)	rs375307057	0.00011
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)	rs372030650	0.00011
NM_000271.5(NPC1):c.501A>G (p.Ser167=)	rs202148667	0.00011
NM_000274.4(OAT):c.478G>A (p.Val160Met)	rs148433929	0.00011
NM_000289.6(PFKM):c.1063-5C>T	rs758178966	0.00011
NM_000352.6(ABCC8):c.102G>A (p.Val34=)	rs189746511	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_000383.4(AIRE):c.1394G>A (p.Arg465Gln)	rs139835427	0.00011
NM_000383.4(AIRE):c.354C>G (p.Val118=)	rs528667089	0.00011
NM_000383.4(AIRE):c.825G>C (p.Gln275His)	rs1027582142	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_000487.6(ARSA):c.972C>T (p.Ile324=)	rs200567315	0.00011
NM_000492.3(CFTR):c.3718-2477C>T	rs75039782	0.00011
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=)	rs587779406	0.00011
NM_000520.6(HEXA):c.548T>A (p.Leu183His)	rs185797496	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_000784.4(CYP27A1):c.1184G>A (p.Arg395His)	rs587778778	0.00011
NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg)	rs199653554	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.1211C>T (p.Thr404Ile)	rs200585609	0.00011
NM_001164508.2(NEB):c.13661G>A (p.Ser4554Asn)	rs1057522021	0.00011
NM_001164508.2(NEB):c.17242C>T (p.Arg5748Trp)	rs546869744	0.00011
NM_001164508.2(NEB):c.17518G>A (p.Ala5840Thr)	rs376277385	0.00011
NM_001164508.2(NEB):c.18488C>T (p.Ala6163Val)	rs201529683	0.00011
NM_001164508.2(NEB):c.18860G>A (p.Arg6287His)	rs200195063	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.23927C>T (p.Ser7976Leu)	rs202137113	0.00011
NM_001164508.2(NEB):c.24757A>G (p.Ile8253Val)	rs551649582	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.5554A>G (p.Met1852Val)	rs370172690	0.00011
NM_001164508.2(NEB):c.6481C>T (p.Arg2161Cys)	rs201758329	0.00011
NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His)	rs373210484	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.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.1955G>A (p.Ser652Asn)	rs749126116	0.00011
NM_001369.3(DNAH5):c.360T>C (p.Asp120=)	rs368412855	0.00011
NM_001369.3(DNAH5):c.3733C>T (p.Arg1245Cys)	rs149609746	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_001370658.1(BTD):c.1429C>T (p.Pro477Ser)	rs138818907	0.00011
NM_002435.3(MPI):c.378G>A (p.Pro126=)	rs752948071	0.00011
NM_002485.5(NBN):c.1036G>A (p.Val346Met)	rs200297914	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_003640.5(ELP1):c.1704A>G (p.Ser568=)	rs138192941	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_012203.2(GRHPR):c.742G>A (p.Val248Ile)	rs369950120	0.00011
NM_014252.4(SLC25A15):c.216C>T (p.Ile72=)	rs572717478	0.00011
NM_014363.6(SACS):c.5841C>T (p.Pro1947=)	rs145371235	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.910C>G (p.Leu304Val)	rs200777988	0.00011
NM_024649.5(BBS1):c.981C>T (p.Pro327=)	rs142243482	0.00011
NM_024996.7(GFM1):c.622G>A (p.Glu208Lys)	rs191462023	0.00011
NM_025215.6(PUS1):c.1266G>A (p.Gly422=)	rs201441662	0.00011
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn)	rs76260483	0.00011
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg)	rs398124495	0.00011
NM_152564.5(VPS13B):c.10258G>A (p.Val3420Met)	rs191174682	0.00011
NM_152564.5(VPS13B):c.4324T>A (p.Ser1442Thr)	rs143566455	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.14516C>T (p.Thr4839Met)	rs139065588	0.00011
NM_206933.4(USH2A):c.1935A>T (p.Thr645=)	rs146670690	0.00011
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)	rs143240767	0.00011
NM_000016.6(ACADM):c.210T>G (p.Thr70=)	rs778891510	0.00010
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys)	rs753816946	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_000033.4(ABCD1):c.1245C>T (p.Tyr415=)	rs782742220	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_000046.5(ARSB):c.204C>A (p.Arg68=)	rs559187375	0.00010
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)	rs200381392	0.00010
NM_000051.4(ATM):c.6382T>C (p.Leu2128=)	rs753646931	0.00010
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala)	rs377648506	0.00010
NM_000071.3(CBS):c.362G>A (p.Arg121His)	rs770095972	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.2392G>A (p.Gly798Arg)	rs202237834	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.520+9C>T	rs368959634	0.00010
NM_000094.4(COL7A1):c.6500C>T (p.Pro2167Leu)	rs200473808	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_000133.4(F9):c.769G>A (p.Val257Ile)	rs200608775	0.00010
NM_000135.4(FANCA):c.1281G>C (p.Met427Ile)	rs747322973	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_000154.2(GALK1):c.766C>T (p.Arg256Trp)	rs376790302	0.00010
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn)	rs200785120	0.00010
NM_000206.3(IL2RG):c.912C>T (p.His304=)	rs145282692	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_000303.3(PMM2):c.441C>T (p.Leu147=)	rs146990448	0.00010
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser)	rs142894102	0.00010
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn)	rs367974472	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_000481.4(AMT):c.1062C>A (p.Pro354=)	rs377227163	0.00010
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val)	rs374244026	0.00010
NM_000489.6(ATRX):c.831C>T (p.Val277=)	rs142561199	0.00010
NM_000528.4(MAN2B1):c.2670A>G (p.Ser890=)	rs199606152	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_001017420.3(ESCO2):c.383G>A (p.Gly128Glu)	rs557813179	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.17462G>A (p.Arg5821His)	rs773239926	0.00010
NM_001164508.2(NEB):c.18224A>C (p.His6075Pro)	rs768813228	0.00010
NM_001164508.2(NEB):c.18859C>T (p.Arg6287Cys)	rs374606967	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.25564G>A (p.Val8522Ile)	rs117861109	0.00010
NM_001164508.2(NEB):c.4904C>T (p.Thr1635Ile)	rs199662534	0.00010
NM_001164508.2(NEB):c.4938C>T (p.Asn1646=)	rs765208384	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_001201543.2(FAM161A):c.1959G>T (p.Glu653Asp)	rs201052209	0.00010
NM_001243279.3(ACSF3):c.1127-5T>C	rs200245960	0.00010
NM_001369.3(DNAH5):c.10036A>G (p.Thr3346Ala)	rs141971313	0.00010
NM_001369.3(DNAH5):c.12272T>C (p.Met4091Thr)	rs142570731	0.00010
NM_001369.3(DNAH5):c.20G>A (p.Arg7Lys)	rs139728564	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_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_003060.4(SLC22A5):c.43G>T (p.Gly15Trp)	rs267607052	0.00010
NM_003227.4(TFR2):c.1076T>A (p.Ile359Asn)	rs140020076	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_005609.4(PYGM):c.606C>T (p.His202=)	rs79860859	0.00010
NM_006118.4(HAX1):c.505-4G>A	rs186219647	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.278G>A (p.Arg93Gln)	rs369201060	0.00010
NM_014252.4(SLC25A15):c.861C>T (p.Tyr287=)	rs148422923	0.00010
NM_014844.5(TECPR2):c.3990C>T (p.Asn1330=)	rs757779692	0.00010
NM_015166.4(MLC1):c.95C>T (p.Ala32Val)	rs200382943	0.00010
NM_018941.4(CLN8):c.725C>T (p.Thr242Met)	rs138821993	0.00010
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser)	rs146812823	0.00010
NM_138694.4(PKHD1):c.1694-10C>G	rs745911880	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_152443.3(RDH12):c.701G>A (p.Arg234His)	rs750636662	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_206933.4(USH2A):c.4445C>T (p.Thr1482Ile)	rs200790812	0.00010
NM_000018.4(ACADVL):c.114G>C (p.Arg38=)	rs777380964	0.00009
NM_000022.4(ADA):c.192G>A (p.Lys64=)	rs144168646	0.00009
NM_000022.4(ADA):c.221G>T (p.Gly74Val)	rs199422328	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_000051.4(ATM):c.5005+7_5005+8del	rs587780626	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.610A>G (p.Met204Val)	rs200605351	0.00009
NM_000057.4(BLM):c.2739C>T (p.Leu913=)	rs759223856	0.00009
NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr)	rs148246325	0.00009
NM_000094.4(COL7A1):c.215C>A (p.Ala72Asp)	rs138319290	0.00009
NM_000094.4(COL7A1):c.4135C>T (p.Arg1379Cys)	rs200802373	0.00009
NM_000094.4(COL7A1):c.7674C>T (p.Asp2558=)	rs201140493	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.2662G>A (p.Val888Ile)	rs774863156	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.4225C>T (p.Arg1409Trp)	rs139478274	0.00009
NM_000152.5(GAA):c.1979G>A (p.Arg660His)	rs374143224	0.00009
NM_000152.5(GAA):c.711G>A (p.Ala237=)	rs368328598	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_000182.5(HADHA):c.2147-8C>G	rs368976628	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_000203.5(IDUA):c.405C>T (p.Ser135=)	rs201326626	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_000231.3(SGCG):c.497G>A (p.Arg166Gln)	rs776289036	0.00009
NM_000231.3(SGCG):c.506-7T>G	rs774582375	0.00009
NM_000260.4(MYO7A):c.549G>A (p.Ser183=)	rs188198404	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.434A>T (p.Asp145Val)	rs140175796	0.00009
NM_000277.3(PAH):c.60+9C>T	rs369454152	0.00009
NM_000282.4(PCCA):c.36C>T (p.Val12=)	rs375516917	0.00009
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn)	rs199879809	0.00009
NM_000289.6(PFKM):c.2040C>T (p.Gly680=)	rs369893708	0.00009
NM_000317.3(PTS):c.174A>G (p.Thr58=)	rs745627441	0.00009
NM_000352.6(ABCC8):c.2544C>T (p.Asn848=)	rs144200345	0.00009
NM_000352.6(ABCC8):c.3039G>A (p.Ser1013=)	rs17846762	0.00009
NM_000359.3(TGM1):c.177C>T (p.Asp59=)	rs8193031	0.00009
NM_000360.4(TH):c.51C>T (p.Ala17=)	rs199645400	0.00009
NM_000383.4(AIRE):c.1095+2T>C	rs760280615	0.00009
NM_000396.4(CTSK):c.22C>T (p.Leu8=)	rs138360770	0.00009
NM_000396.4(CTSK):c.244-10_244-8del	rs774922287	0.00009
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)	rs111033309	0.00009
NM_000481.4(AMT):c.589G>C (p.Asp197His)	rs200550585	0.00009
NM_000489.6(ATRX):c.3065G>A (p.Arg1022Gln)	rs781811015	0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)	rs121909011	0.00009
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=)	rs55928397	0.00009
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)	rs140502196	0.00009
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=)	rs146804928	0.00009
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)	rs4148725	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_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.1252G>A (p.Ala418Thr)	rs368567109	0.00009
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro)	rs398123508	0.00009
NM_000784.4(CYP27A1):c.1184+1G>A	rs587778777	0.00009
NM_001039958.2(MESP2):c.168T>G (p.Pro56=)	rs894593728	0.00009
NM_001142800.2(EYS):c.7284A>C (p.Ser2428=)	rs775877185	0.00009
NM_001164508.2(NEB):c.11559T>C (p.Asn3853=)	rs369429046	0.00009
NM_001164508.2(NEB):c.12279G>A (p.Pro4093=)	rs367638234	0.00009
NM_001164508.2(NEB):c.17215G>A (p.Asp5739Asn)	rs200672818	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.18866G>A (p.Arg6289Gln)	rs575958060	0.00009
NM_001164508.2(NEB):c.21757G>A (p.Glu7253Lys)	rs745791097	0.00009
NM_001164508.2(NEB):c.22590+2T>C	rs200449517	0.00009
NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe)	rs201028196	0.00009
NM_001164508.2(NEB):c.23770G>A (p.Gly7924Ser)	rs369602540	0.00009
NM_001164508.2(NEB):c.23812C>T (p.Arg7938Cys)	rs372117694	0.00009
NM_001164508.2(NEB):c.25163G>A (p.Arg8388His)	rs139333406	0.00009
NM_001164508.2(NEB):c.5411C>A (p.Ala1804Glu)	rs78420579	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_001243279.3(ACSF3):c.672C>T (p.Thr224=)	rs150374081	0.00009
NM_001283009.2(RTEL1):c.1395C>T (p.His465=)	rs376423914	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.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.13591G>A (p.Glu4531Lys)	rs201242847	0.00009
NM_001369.3(DNAH5):c.1362A>G (p.Lys454=)	rs371157628	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_001370658.1(BTD):c.1395C>G (p.His465Gln)	rs201604102	0.00009
NM_001378454.1(ALMS1):c.8595A>G (p.Val2865=)	rs1052804740	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_001876.4(CPT1A):c.2028+7C>G	rs768465007	0.00009
NM_002529.4(NTRK1):c.659G>A (p.Arg220Gln)	rs540751200	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_003227.4(TFR2):c.2367G>A (p.Ala789=)	rs374766778	0.00009
NM_004453.4(ETFDH):c.1692A>T (p.Gly564=)	rs377544087	0.00009
NM_005373.3(MPL):c.1467C>T (p.Thr489=)	rs759161511	0.00009
NM_005609.4(PYGM):c.1403+5G>A	rs373040789	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_006493.4(CLN5):c.-4C>T	rs587780896	0.00009
NM_006623.4(PHGDH):c.422C>T (p.Thr141Ile)	rs200037593	0.00009
NM_007259.5(VPS45):c.1197C>A (p.Ser399Arg)	rs371572450	0.00009
NM_012144.4(DNAI1):c.1019+7A>G	rs200720794	0.00009
NM_014140.4(SMARCAL1):c.2226G>A (p.Thr742=)	rs2271335	0.00009
NM_014252.4(SLC25A15):c.147C>G (p.Asp49Glu)	rs187685447	0.00009
NM_014844.5(TECPR2):c.1477C>T (p.Pro493Ser)	rs150165045	0.00009
NM_017739.4(POMGNT1):c.1895+1G>T	rs386834024	0.00009
NM_018006.5(TRMU):c.1188C>G (p.Gly396=)	rs142346622	0.00009
NM_020166.5(MCCC1):c.294C>T (p.Ile98=)	rs368288499	0.00009
NM_020533.3(MCOLN1):c.1179G>A (p.Ser393=)	rs201232288	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_025215.6(PUS1):c.207C>G (p.Leu69=)	rs140067992	0.00009
NM_032520.5(GNPTG):c.713G>A (p.Gly238Glu)	rs202080062	0.00009
NM_033305.3(VPS13A):c.2922C>T (p.Pro974=)	rs373768055	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.1149+9C>T	rs139192292	0.00009
NM_130849.4(SLC39A4):c.646G>A (p.Glu216Lys)	rs200524049	0.00009
NM_130849.4(SLC39A4):c.804+9C>T	rs200693339	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.5193G>A (p.Val1731=)	rs146531432	0.00009
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=)	rs760710708	0.00009
NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=)	rs371508721	0.00009
NM_138694.4(PKHD1):c.9714A>G (p.Gly3238=)	rs754654892	0.00009
NM_152419.3(HGSNAT):c.741G>A (p.Arg247=)	rs775663094	0.00009
NM_152564.5(VPS13B):c.10868-7G>A	rs376141593	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_182760.4(SUMF1):c.463T>C (p.Ser155Pro)	rs137852850	0.00009
NM_206933.4(USH2A):c.2167+5G>A	rs771583281	0.00009
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_000053.4(ATP7B):c.2731-2A>G	rs367956522	0.00008
NM_000057.4(BLM):c.664G>A (p.Glu222Lys)	rs774075577	0.00008
NM_000080.4(CHRNE):c.6A>G (p.Ala2=)	rs202198207	0.00008
NM_000094.4(COL7A1):c.1604C>A (p.Thr535Asn)	rs200868430	0.00008
NM_000094.4(COL7A1):c.5459C>G (p.Pro1820Arg)	rs143037856	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.869C>A (p.Ser290Tyr)	rs185984960	0.00008
NM_000152.5(GAA):c.1194+3G>C	rs368539333	0.00008
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln)	rs2229224	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_000159.4(GCDH):c.801C>T (p.Asp267=)	rs141293881	0.00008
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)	rs199801029	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_000277.3(PAH):c.1045T>C (p.Ser349Pro)	rs62508646	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_000282.4(PCCA):c.490A>G (p.Ile164Val)	rs539693612	0.00008
NM_000284.4(PDHA1):c.870C>T (p.His290=)	rs761411007	0.00008
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=)	rs562715858	0.00008
NM_000360.4(TH):c.685A>T (p.Ile229Phe)	rs778613708	0.00008
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)	rs143010236	0.00008
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr)	rs762780994	0.00008
NM_000489.6(ATRX):c.7435A>G (p.Met2479Val)	rs200478641	0.00008
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys)	rs199791061	0.00008
NM_000498.3(CYP11B2):c.135A>G (p.Pro45=)	rs765056481	0.00008
NM_000520.6(HEXA):c.855C>T (p.Gly285=)	rs768518776	0.00008
NM_000527.5(LDLR):c.1503G>A (p.Ala501=)	rs368889457	0.00008
NM_000527.5(LDLR):c.1764C>T (p.Ile588=)	rs778595540	0.00008
NM_000528.4(MAN2B1):c.274A>G (p.Ile92Val)	rs751849414	0.00008
NM_000532.5(PCCB):c.561C>T (p.Ser187=)	rs145057852	0.00008
NM_000642.3(AGL):c.3290G>A (p.Arg1097His)	rs185947256	0.00008
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu)	rs148038173	0.00008
NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr)	rs199849117	0.00008
NM_001142800.2(EYS):c.1107C>T (p.Ser369=)	rs755023434	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.1285G>T (p.Asp429Tyr)	rs577939684	0.00008
NM_001164508.2(NEB):c.17203G>A (p.Ala5735Thr)	rs202111641	0.00008
NM_001164508.2(NEB):c.17272A>G (p.Ile5758Val)	rs541672313	0.00008
NM_001164508.2(NEB):c.19993C>T (p.Pro6665Ser)	rs751724804	0.00008
NM_001164508.2(NEB):c.23840T>G (p.Leu7947Trp)	rs200559481	0.00008
NM_001164508.2(NEB):c.3416C>T (p.Thr1139Met)	rs181244403	0.00008
NM_001164508.2(NEB):c.355A>G (p.Thr119Ala)	rs182207224	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_001369.3(DNAH5):c.12105G>A (p.Thr4035=)	rs199735129	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.8828G>A (p.Arg2943His)	rs184758570	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_001875.5(CPS1):c.528+9A>G	rs369476447	0.00008
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)	rs375401970	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.1110G>A (p.Val370=)	rs372719040	0.00008
NM_006019.4(TCIRG1):c.826C>T (p.Arg276Trp)	rs543099977	0.00008
NM_007259.5(VPS45):c.1395G>A (p.Gln465=)	rs782595882	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_018941.4(CLN8):c.300G>A (p.Gln100=)	rs148988002	0.00008
NM_020166.5(MCCC1):c.686A>G (p.Glu229Gly)	rs142629318	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.489C>T (p.Phe163=)	rs370857842	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.664A>G (p.Ile222Val)	rs369925690	0.00008
NM_152564.5(VPS13B):c.11144G>A (p.Arg3715Gln)	rs141566041	0.00008
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter)	rs144539572	0.00008
NM_153006.3(NAGS):c.722T>C (p.Val241Ala)	rs201142696	0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)	rs368049814	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_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_000057.4(BLM):c.178T>A (p.Leu60Ile)	rs138542210	0.00007
NM_000080.4(CHRNE):c.1446G>A (p.Val482=)	rs376713095	0.00007
NM_000094.4(COL7A1):c.3112C>T (p.Pro1038Ser)	rs148291967	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_000128.4(F11):c.1200G>A (p.Pro400=)	rs150377265	0.00007
NM_000135.4(FANCA):c.1634G>T (p.Ser545Ile)	rs200922390	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.685G>A (p.Asp229Asn)	rs148419748	0.00007
NM_000135.4(FANCA):c.737G>A (p.Gly246Glu)	rs555519520	0.00007
NM_000152.5(GAA):c.1048G>A (p.Val350Met)	rs200412003	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.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_000206.3(IL2RG):c.759G>T (p.Glu253Asp)	rs200239526	0.00007
NM_000243.3(MEFV):c.416C>A (p.Ala139Asp)	rs575678784	0.00007
NM_000246.4(CIITA):c.1683C>T (p.Asp561=)	rs76686583	0.00007
NM_000246.4(CIITA):c.1731C>T (p.Tyr577=)	rs142848848	0.00007
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile)	rs180819807	0.00007
NM_000277.3(PAH):c.204A>T (p.Arg68Ser)	rs76394784	0.00007
NM_000282.4(PCCA):c.1284+1G>A	rs752761437	0.00007
NM_000360.4(TH):c.252G>A (p.Leu84=)	rs758016812	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_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.1245C>T (p.Ser415=)	rs141815992	0.00007
NM_000489.6(ATRX):c.2118T>A (p.Ser706Arg)	rs782598442	0.00007
NM_000489.6(ATRX):c.2806G>C (p.Val936Leu)	rs149232501	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_000498.3(CYP11B2):c.1041C>T (p.Ala347=)	rs369251345	0.00007
NM_000518.5(HBB):c.92+6T>C	rs35724775	0.00007
NM_000520.6(HEXA):c.102C>T (p.Asp34=)	rs377310315	0.00007
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln)	rs200142970	0.00007
NM_000709.4(BCKDHA):c.288+10G>A	rs376894084	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.291G>A (p.Thr97=)	rs367945307	0.00007
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=)	rs142540289	0.00007
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His)	rs368798160	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.11116A>G (p.Ile3706Val)	rs199551865	0.00007
NM_001164508.2(NEB):c.16817A>G (p.Tyr5606Cys)	rs372049328	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.23378T>C (p.Met7793Thr)	rs536677256	0.00007
NM_001164508.2(NEB):c.368G>A (p.Arg123His)	rs546250852	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_001360.3(DHCR7):c.840C>T (p.Tyr280=)	rs148468879	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.13746C>T (p.Tyr4582=)	rs369094478	0.00007
NM_001369.3(DNAH5):c.3379A>G (p.Ile1127Val)	rs763824667	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_001378454.1(ALMS1):c.3974T>G (p.Val1325Gly)	rs868269804	0.00007
NM_001876.4(CPT1A):c.525G>A (p.Pro175=)	rs371805329	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_004035.7(ACOX1):c.667G>A (p.Val223Ile)	rs143260706	0.00007
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe)	rs386833895	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.1213G>A (p.Gly405Arg)	rs137853150	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_012144.4(DNAI1):c.672A>G (p.Thr224=)	rs201101182	0.00007
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter)	rs774654020	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.2292C>T (p.Ala764=)	rs188566209	0.00007
NM_014244.5(ADAMTS2):c.260G>T (p.Arg87Leu)	rs150047440	0.00007
NM_014297.5(ETHE1):c.375+7T>C	rs752466453	0.00007
NM_023036.6(DNAI2):c.134A>G (p.Asn45Ser)	rs148073122	0.00007
NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val)	rs747614562	0.00007
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu)	rs140881518	0.00007
NM_054012.4(ASS1):c.174+10G>A	rs371597908	0.00007
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)	rs121908646	0.00007
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu)	rs202047589	0.00007
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=)	rs142855690	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
NR_003051.3(RMRP):n.-22_-13dup	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.947G>A (p.Arg316Gln)	rs147366714	0.00006
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=)	rs367713788	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.927G>A (p.Gln309=)	rs139871719	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_000035.4(ALDOB):c.849C>T (p.Asn283=)	rs202062631	0.00006
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)	rs28904921	0.00006
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)	rs377349459	0.00006
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)	rs587783299	0.00006
NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp)	rs539585071	0.00006
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met)	rs200290721	0.00006
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)	rs121907992	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.1250C>T (p.Thr417Met)	rs200646556	0.00006
NM_000070.3(CAPN3):c.1404C>T (p.Asp468=)	rs534326487	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_000071.3(CBS):c.572C>T (p.Thr191Met)	rs121964973	0.00006
NM_000080.4(CHRNE):c.1104C>T (p.Pro368=)	rs767374241	0.00006
NM_000094.4(COL7A1):c.4287C>T (p.Pro1429=)	rs749814590	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.6398T>C (p.Val2133Ala)	rs372838887	0.00006
NM_000098.3(CPT2):c.1737C>T (p.Tyr579=)	rs957344521	0.00006
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)	rs121918528	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_000103.4(CYP19A1):c.336C>T (p.Tyr112=)	rs139905959	0.00006
NM_000108.5(DLD):c.508G>A (p.Gly170Ser)	rs567286177	0.00006
NM_000126.4(ETFA):c.442A>G (p.Ile148Val)	rs199673198	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.3349A>G (p.Arg1117Gly)	rs149277003	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.4064A>T (p.His1355Leu)	rs145886270	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_000136.3(FANCC):c.609C>T (p.Leu203=)	rs567226063	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_000143.4(FH):c.12A>G (p.Ala4=)	rs201277370	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.2456G>A (p.Arg819Gln)	rs374687883	0.00006
NM_000152.5(GAA):c.266G>A (p.Arg89His)	rs200586324	0.00006
NM_000152.5(GAA):c.655G>A (p.Gly219Arg)	rs370950728	0.00006
NM_000153.4(GALC):c.120C>T (p.Gly40=)	rs532800656	0.00006
NM_000153.4(GALC):c.1731C>T (p.Phe577=)	rs201560122	0.00006
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys)	rs760661724	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_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.632A>G (p.Tyr211Cys)	rs139931025	0.00006
NM_000170.3(GLDC):c.78G>C (p.Ser26=)	rs915226152	0.00006
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer)	rs779339230	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.2049G>A (p.Ser683=)	rs104895092	0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)	rs28940578	0.00006
NM_000243.3(MEFV):c.866C>T (p.Ala289Val)	rs104895132	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_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.1479C>T (p.Ser493=)	rs148078801	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.438C>T (p.His146=)	rs191142120	0.00006
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp)	rs141371306	0.00006
NM_000288.4(PEX7):c.340-10A>G	rs267608255	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_000310.4(PPT1):c.541G>A (p.Val181Met)	rs148412181	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.3329+7G>A	rs776313489	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.376C>T (p.Arg126Cys)	rs397514524	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_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.718G>A (p.Gly240Ser)	rs142286875	0.00006
NM_000383.4(AIRE):c.798+1G>A	rs138489664	0.00006
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)	rs111033305	0.00006
NM_000466.3(PEX1):c.1284C>T (p.Ala428=)	rs145153467	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.1446C>T (p.His482=)	rs747980975	0.00006
NM_000478.6(ALPL):c.407G>A (p.Arg136His)	rs121918011	0.00006
NM_000481.4(AMT):c.230C>T (p.Ser77Leu)	rs386833680	0.00006
NM_000481.4(AMT):c.555C>T (p.Pro185=)	rs144790394	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.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.1646G>A (p.Ser549Asn)	rs121908755	0.00006
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)	rs75961395	0.00006
NM_000492.4(CFTR):c.2604A>G (p.Val868=)	rs1800105	0.00006
NM_000492.4(CFTR):c.2769C>T (p.Ala923=)	rs1800108	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.3659C>T (p.Thr1220Ile)	rs1800123	0.00006
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=)	rs761669740	0.00006
NM_000492.4(CFTR):c.663G>A (p.Ala221=)	rs758147990	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_000498.3(CYP11B2):c.596-4G>A	rs370388708	0.00006
NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu)	rs780563386	0.00006
NM_000527.5(LDLR):c.1080T>G (p.Asp360Glu)	rs749322464	0.00006
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn)	rs375009082	0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)	rs138477254	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.344G>A (p.Arg115His)	rs201102461	0.00006
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)	rs121908030	0.00006
NM_000527.5(LDLR):c.979C>T (p.His327Tyr)	rs747507019	0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)	rs80338681	0.00006
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg)	rs754733253	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.2607A>G (p.Gln869=)	rs747817359	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_000642.3(AGL):c.609A>G (p.Lys203=)	rs186709388	0.00006
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met)	rs199691576	0.00006
NM_001039958.2(MESP2):c.561G>A (p.Gly187=)	rs767474985	0.00006
NM_001126108.2(SLC12A3):c.1145C>T (p.Thr382Met)	rs187885782	0.00006
NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=)	rs13306666	0.00006
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)	rs121908958	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.9392G>C (p.Gly3131Ala)	rs772888249	0.00006
NM_001164507.2(NEB):c.21341G>A (p.Arg7114Gln)	rs372284984	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.2020G>A (p.Val674Ile)	rs775553284	0.00006
NM_001164508.2(NEB):c.20228G>A (p.Arg6743His)	rs755370356	0.00006
NM_001164508.2(NEB):c.20441G>A (p.Arg6814His)	rs773584363	0.00006
NM_001164508.2(NEB):c.21337A>G (p.Met7113Val)	rs750039342	0.00006
NM_001164508.2(NEB):c.2215A>G (p.Thr739Ala)	rs754959175	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.2415T>C (p.Asp805=)	rs566989836	0.00006
NM_001164508.2(NEB):c.24171G>T (p.Met8057Ile)	rs758996758	0.00006
NM_001164508.2(NEB):c.24909T>C (p.Gly8303=)	rs754365974	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.4103G>A (p.Arg1368His)	rs201984572	0.00006
NM_001164508.2(NEB):c.4469T>C (p.Met1490Thr)	rs554984749	0.00006
NM_001164508.2(NEB):c.5300C>T (p.Pro1767Leu)	rs370000978	0.00006
NM_001164508.2(NEB):c.5410G>A (p.Ala1804Thr)	rs369275207	0.00006
NM_001164508.2(NEB):c.5939T>C (p.Leu1980Ser)	rs375412223	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.358A>G (p.Met120Val)	rs200289511	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_001369.3(DNAH5):c.10347C>T (p.Ala3449=)	rs150773884	0.00006
NM_001369.3(DNAH5):c.11300G>A (p.Arg3767His)	rs138838869	0.00006
NM_001369.3(DNAH5):c.1290A>G (p.Glu430=)	rs990691780	0.00006
NM_001369.3(DNAH5):c.13155A>T (p.Pro4385=)	rs202103048	0.00006
NM_001369.3(DNAH5):c.13448C>T (p.Thr4483Met)	rs141828476	0.00006
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter)	rs200901816	0.00006
NM_001369.3(DNAH5):c.13689G>C (p.Leu4563Phe)	rs374221053	0.00006
NM_001369.3(DNAH5):c.1436G>A (p.Arg479His)	rs150601733	0.00006
NM_001369.3(DNAH5):c.1612G>A (p.Glu538Lys)	rs141651575	0.00006
NM_001369.3(DNAH5):c.1958C>T (p.Thr653Met)	rs201020293	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.3656G>A (p.Arg1219His)	rs73055857	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_001369.3(DNAH5):c.7752+3A>G	rs200385399	0.00006
NM_001369.3(DNAH5):c.8398G>A (p.Val2800Ile)	rs770453841	0.00006
NM_001369.3(DNAH5):c.8611T>C (p.Phe2871Leu)	rs138494768	0.00006
NM_001378454.1(ALMS1):c.12103G>A (p.Ala4035Thr)	rs757364858	0.00006
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys)	rs370398704	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_001386140.1(MTTP):c.915G>A (p.Ser305=)	rs199716549	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_001876.4(CPT1A):c.1436C>T (p.Pro479Leu)	rs80356779	0.00006
NM_002435.3(MPI):c.1269G>A (p.Leu423=)	rs371664469	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_003742.4(ABCB11):c.2012-8T>G	rs769910565	0.00006
NM_004004.6(GJB2):c.23C>T (p.Thr8Met)	rs529500747	0.00006
NM_004006.3(DMD):c.1184G>A (p.Arg395Gln)	rs148511512	0.00006
NM_004629.2(FANCG):c.1808C>T (p.Ser603Phe)	rs17878854	0.00006
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)	rs386833909	0.00006
NM_005373.3(MPL):c.304C>T (p.Arg102Cys)	rs763568293	0.00006
NM_006096.4(NDRG1):c.270C>T (p.Ala90=)	rs200328537	0.00006
NM_006623.4(PHGDH):c.1255G>A (p.Gly419Arg)	rs145344767	0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)	rs121907987	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_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.9G>A (p.Glu3=)	rs773937760	0.00006
NM_014363.6(SACS):c.12216T>A (p.Thr4072=)	rs574182225	0.00006
NM_014363.6(SACS):c.2487C>T (p.Asp829=)	rs151198216	0.00006
NM_014844.5(TECPR2):c.1792G>A (p.Gly598Arg)	rs772792595	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.715-5C>A	rs751850836	0.00006
NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln)	rs200276195	0.00006
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr)	rs147318949	0.00006
NM_020166.5(MCCC1):c.1773C>T (p.Ser591=)	rs200651846	0.00006
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg)	rs119103212	0.00006
NM_020533.3(MCOLN1):c.1038G>A (p.Glu346=)	rs535704197	0.00006
NM_020533.3(MCOLN1):c.265C>T (p.Leu89=)	rs567995024	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_024685.4(BBS10):c.440A>G (p.Gln147Arg)	rs140585012	0.00006
NM_052845.4(MMAB):c.150G>A (p.Ser50=)	rs754357121	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_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.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.5129C>T (p.Pro1710Leu)	rs749294509	0.00006
NM_138694.4(PKHD1):c.5772C>T (p.Phe1924=)	rs141473212	0.00006
NM_138694.4(PKHD1):c.7810C>T (p.Arg2604Cys)	rs201091083	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.8010C>T (p.Ala2670=)	rs376062743	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.10561T>C (p.Trp3521Arg)	rs111033264	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.2802T>G (p.Cys934Trp)	rs201527662	0.00006
NM_206933.4(USH2A):c.7227T>C (p.Thr2409=)	rs141917231	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.757C>T (p.Arg253Trp)	rs201944717	0.00005
NM_000022.4(ADA):c.872C>T (p.Ser291Leu)	rs121908721	0.00005
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys)	rs121908526	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.4724G>A (p.Arg1575His)	rs550552791	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_000070.3(CAPN3):c.1437C>T (p.Ser479=)	rs147914333	0.00005
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)	rs200379491	0.00005
NM_000094.4(COL7A1):c.1428G>A (p.Pro476=)	rs138330564	0.00005
NM_000094.4(COL7A1):c.3158C>T (p.Ala1053Val)	rs574853557	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.6005G>A (p.Arg2002His)	rs768326843	0.00005
NM_000098.3(CPT2):c.1335C>T (p.Cys445=)	rs143075786	0.00005
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln)	rs199967286	0.00005
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn)	rs201589909	0.00005
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)	rs372254398	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.953G>T (p.Arg318Met)	rs72552377	0.00005
NM_000136.3(FANCC):c.1494T>C (p.Ala498=)	rs76895298	0.00005
NM_000136.3(FANCC):c.1560C>T (p.His520=)	rs150020474	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_000152.5(GAA):c.2418G>A (p.Thr806=)	rs371528938	0.00005
NM_000154.2(GALK1):c.935G>A (p.Arg312His)	rs181526665	0.00005
NM_000158.4(GBE1):c.1392C>T (p.Leu464=)	rs563241317	0.00005
NM_000158.4(GBE1):c.1544G>A (p.Arg515His)	rs201958741	0.00005
NM_000159.4(GCDH):c.1092C>T (p.Pro364=)	rs146363703	0.00005
NM_000169.3(GLA):c.640-801G>A	rs199473684	0.00005
NM_000169.3(GLA):c.755G>C (p.Arg252Thr)	rs147026639	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_000182.5(HADHA):c.180+3A>G	rs781222705	0.00005
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr)	rs146306707	0.00005
NM_000198.4(HSD3B2):c.13T>A (p.Cys5Ser)	rs376207606	0.00005
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys)	rs368650877	0.00005
NM_000202.8(IDS):c.23G>T (p.Arg8Leu)	rs782621858	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_000231.3(SGCG):c.414A>G (p.Gln138=)	rs770596449	0.00005
NM_000243.3(MEFV):c.2337G>C (p.Gly779=)	rs104895153	0.00005
NM_000252.3(MTM1):c.1793A>G (p.His598Arg)	rs201373390	0.00005
NM_000252.3(MTM1):c.546T>C (p.His182=)	rs782217349	0.00005
NM_000252.3(MTM1):c.620G>A (p.Arg207His)	rs187357952	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_000284.4(PDHA1):c.693G>A (p.Thr231=)	rs138237215	0.00005
NM_000284.4(PDHA1):c.759+10C>G	rs375488072	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_000317.3(PTS):c.132C>T (p.Asn44=)	rs763556416	0.00005
NM_000383.4(AIRE):c.156G>A (p.Lys52=)	rs144396624	0.00005
NM_000397.4(CYBB):c.948G>T (p.Gly316=)	rs139761069	0.00005
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg)	rs184492796	0.00005
NM_000441.2(SLC26A4):c.165-1G>A	rs759792660	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_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.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.4710T>C (p.Phe1570=)	rs781829081	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_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.1035A>C (p.Pro345=)	rs202227927	0.00005
NM_000521.4(HEXB):c.1572C>T (p.Asp524=)	rs770560389	0.00005
NM_000527.5(LDLR):c.861C>T (p.Gly287=)	rs770191650	0.00005
NM_000531.6(OTC):c.118C>T (p.Arg40Cys)	rs72554307	0.00005
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)	rs374722096	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_001042432.2(CLN3):c.1158C>T (p.Gly386=)	rs145340637	0.00005
NM_001126108.2(SLC12A3):c.2082C>T (p.Asn694=)	rs370145822	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_001142800.2(EYS):c.6571+5G>A	rs991580368	0.00005
NM_001164277.2(SLC37A4):c.80A>G (p.Asn27Ser)	rs782308530	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.11025G>A (p.Thr3675=)	rs199789085	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.21268C>G (p.Pro7090Ala)	rs371704528	0.00005
NM_001164508.2(NEB):c.22131C>G (p.His7377Gln)	rs777069125	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.24044G>A (p.Gly8015Glu)	rs772083580	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.6614G>A (p.Arg2205His)	rs752349680	0.00005
NM_001164508.2(NEB):c.7185C>T (p.Asn2395=)	rs775336786	0.00005
NM_001283009.2(RTEL1):c.2308G>A (p.Gly770Arg)	rs537754916	0.00005
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=)	rs759178651	0.00005
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu)	rs80338859	0.00005
NM_001369.3(DNAH5):c.10472C>T (p.Thr3491Met)	rs760010021	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.3037A>G (p.Ser1013Gly)	rs369783406	0.00005
NM_001369.3(DNAH5):c.3302T>C (p.Val1101Ala)	rs376453450	0.00005
NM_001369.3(DNAH5):c.3517A>C (p.Ile1173Leu)	rs375686889	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.8018A>G (p.Asn2673Ser)	rs200591493	0.00005
NM_001370658.1(BTD):c.383G>A (p.Arg128His)	rs367902696	0.00005
NM_001370658.1(BTD):c.48C>T (p.Tyr16=)	rs201823743	0.00005
NM_001378454.1(ALMS1):c.558C>T (p.Asp186=)	rs370228166	0.00005
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=)	rs539688337	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.434G>A (p.Arg145His)	rs373015421	0.00005
NM_002225.5(IVD):c.1122C>T (p.Asp374=)	rs372504234	0.00005
NM_002435.3(MPI):c.132G>A (p.Lys44=)	rs778577329	0.00005
NM_002529.4(NTRK1):c.1939G>T (p.Val647Leu)	rs142870382	0.00005
NM_002529.4(NTRK1):c.357C>T (p.Arg119=)	rs149960336	0.00005
NM_002529.4(NTRK1):c.375C>T (p.Asn125=)	rs757803799	0.00005
NM_003227.4(TFR2):c.2014C>T (p.Gln672Ter)	rs1051249273	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_004035.7(ACOX1):c.405T>C (p.Thr135=)	rs142474717	0.00005
NM_004035.7(ACOX1):c.912C>T (p.Ser304=)	rs144826451	0.00005
NM_004937.3(CTNS):c.364G>A (p.Ala122Thr)	rs187396540	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.1626T>C (p.Asn542=)	rs190046545	0.00005
NM_006019.4(TCIRG1):c.477G>A (p.Gly159=)	rs746159308	0.00005
NM_007259.5(VPS45):c.577-5C>T	rs1266646389	0.00005
NM_012144.4(DNAI1):c.2064G>A (p.Leu688=)	rs750785483	0.00005
NM_012203.2(GRHPR):c.357A>G (p.Leu119=)	rs186922220	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.291C>T (p.Phe97=)	rs462009	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_014844.5(TECPR2):c.1180A>C (p.Arg394=)	rs549744502	0.00005
NM_020533.3(MCOLN1):c.876C>T (p.His292=)	rs199588225	0.00005
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile)	rs201872547	0.00005
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)	rs768933093	0.00005
NM_033159.4(HYAL1):c.150C>T (p.Asp50=)	rs377272298	0.00005
NM_033305.3(VPS13A):c.2964+5G>A	rs139516538	0.00005
NM_033305.3(VPS13A):c.963G>A (p.Val321=)	rs184828562	0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	rs104886142	0.00005
NM_052845.4(MMAB):c.665C>T (p.Thr222Met)	rs142070439	0.00005
NM_054012.4(ASS1):c.787G>A (p.Val263Met)	rs192838388	0.00005
NM_054012.4(ASS1):c.911G>A (p.Arg304Gln)	rs771640767	0.00005
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr)	rs557211301	0.00005
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro)	rs527800020	0.00005
NM_152564.5(VPS13B):c.10755C>T (p.Asp3585=)	rs145950999	0.00005
NM_152564.5(VPS13B):c.6056A>G (p.Asn2019Ser)	rs534471615	0.00005
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe)	rs199749473	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
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)	rs745832866	0.00004
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp)	rs771025937	0.00004
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser)	rs200117742	0.00004
NM_000023.4(SGCA):c.1053C>T (p.Arg351=)	rs148373921	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.568G>A (p.Gly190Arg)	rs180177239	0.00004
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro)	rs121908520	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.1178A>C (p.His393Pro)	rs118203944	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_000049.4(ASPA):c.79G>A (p.Gly27Arg)	rs766328537	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.2836A>G (p.Met946Val)	rs587781992	0.00004
NM_000051.4(ATM):c.283C>A (p.Gln95Lys)	rs587781545	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.8391T>C (p.Ser2797=)	rs566485657	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.2301C>T (p.Pro767=)	rs770787421	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.2695C>T (p.Arg899Ter)	rs587779884	0.00004
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu)	rs749863676	0.00004
NM_000070.3(CAPN3):c.1557C>T (p.His519=)	rs368385372	0.00004
NM_000070.3(CAPN3):c.2040C>T (p.Val680=)	rs200583904	0.00004
NM_000071.3(CBS):c.1281G>A (p.Pro427=)	rs563330591	0.00004
NM_000071.3(CBS):c.1512G>A (p.Glu504=)	rs149170219	0.00004
NM_000080.4(CHRNE):c.1071G>A (p.Pro357=)	rs772143528	0.00004
NM_000080.4(CHRNE):c.1374C>T (p.Cys458=)	rs201030784	0.00004
NM_000091.5(COL4A3):c.934-6C>A	rs369438839	0.00004
NM_000094.4(COL7A1):c.1167G>A (p.Thr389=)	rs377732069	0.00004
NM_000094.4(COL7A1):c.1324C>T (p.Arg442Cys)	rs142108058	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.5736+9G>A	rs777097228	0.00004
NM_000094.4(COL7A1):c.5929C>T (p.Arg1977Cys)	rs765130674	0.00004
NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His)	rs138626345	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_000108.5(DLD):c.1382G>A (p.Gly461Glu)	rs757275923	0.00004
NM_000128.4(F11):c.400C>T (p.Gln134Ter)	rs756908183	0.00004
NM_000128.4(F11):c.56-6T>C	rs374122923	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.2009G>A (p.Arg670His)	rs537923341	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.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.3476G>C (p.Cys1159Ser)	rs762837582	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_000151.4(G6PC1):c.132C>T (p.Tyr44=)	rs202190197	0.00004
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)	rs770610356	0.00004
NM_000152.5(GAA):c.138C>T (p.Ser46=)	rs753375900	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.1828G>A (p.Ala610Thr)	rs144731405	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_000154.2(GALK1):c.1031C>T (p.Thr344Met)	rs371517491	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_000158.4(GBE1):c.760A>G (p.Thr254Ala)	rs770427750	0.00004
NM_000159.4(GCDH):c.848del (p.Leu283fs)	rs761491320	0.00004
NM_000170.3(GLDC):c.2489C>T (p.Thr830Met)	rs386833560	0.00004
NM_000170.3(GLDC):c.489A>G (p.Pro163=)	rs770044310	0.00004
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys)	rs772311757	0.00004
NM_000199.5(SGSH):c.792C>T (p.Asn264=)	rs147962306	0.00004
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser)	rs143947056	0.00004
NM_000199.5(SGSH):c.89-10C>T	rs766929408	0.00004
NM_000202.8(IDS):c.162T>C (p.Tyr54=)	rs141088021	0.00004
NM_000202.8(IDS):c.450G>A (p.Pro150=)	rs201892132	0.00004
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly)	rs202191662	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.957G>C (p.Ala319=)	rs748350723	0.00004
NM_000206.3(IL2RG):c.1105A>G (p.Thr369Ala)	rs374270413	0.00004
NM_000235.4(LIPA):c.1024G>A (p.Gly342Arg)	rs776472526	0.00004
NM_000243.3(MEFV):c.1527C>T (p.Leu509=)	rs571832030	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_000252.3(MTM1):c.230C>T (p.Thr77Met)	rs782640338	0.00004
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln)	rs111033215	0.00004
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)	rs104894598	0.00004
NM_000277.3(PAH):c.1010G>A (p.Gly337Glu)	rs62517206	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_000282.4(PCCA):c.782A>G (p.Glu261Gly)	rs1169861687	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.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_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.3558-7G>A	rs900191703	0.00004
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)	rs137852676	0.00004
NM_000352.6(ABCC8):c.4703G>A (p.Arg1568Gln)	rs374743072	0.00004
NM_000352.6(ABCC8):c.942C>T (p.Phe314=)	rs768582290	0.00004
NM_000359.3(TGM1):c.377G>A (p.Arg126His)	rs200491579	0.00004
NM_000360.4(TH):c.1317C>T (p.Asp439=)	rs375440221	0.00004
NM_000360.4(TH):c.1382C>T (p.Pro461Leu)	rs767635052	0.00004
NM_000360.4(TH):c.1402G>A (p.Val468Met)	rs1800033	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_000383.4(AIRE):c.1398C>T (p.Pro466=)	rs1402673356	0.00004
NM_000383.4(AIRE):c.351C>T (p.Ala117=)	rs201929488	0.00004
NM_000391.4(TPP1):c.225A>G (p.Gln75=)	rs368709098	0.00004
NM_000391.4(TPP1):c.889C>T (p.Arg297Trp)	rs553122824	0.00004
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=)	rs200347945	0.00004
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)	rs756969021	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_000466.3(PEX1):c.2296G>A (p.Asp766Asn)	rs374010060	0.00004
NM_000478.6(ALPL):c.648C>T (p.Asp216=)	rs201739155	0.00004
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu)	rs121918010	0.00004
NM_000481.4(AMT):c.280C>T (p.Arg94Trp)	rs1126422	0.00004
NM_000481.4(AMT):c.283G>A (p.Val95Met)	rs183396486	0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His)	rs121964985	0.00004
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln)	rs199476391	0.00004
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)	rs74315456	0.00004
NM_000487.6(ARSA):c.474C>A (p.Cys158Ter)	rs768028181	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.2484G>C (p.Met828Ile)	rs782705007	0.00004
NM_000489.6(ATRX):c.2652G>C (p.Glu884Asp)	rs782123222	0.00004
NM_000489.6(ATRX):c.3091G>A (p.Gly1031Ser)	rs782781078	0.00004
NM_000489.6(ATRX):c.7439G>A (p.Arg2480Lys)	rs369871569	0.00004
NM_000492.4(CFTR):c.1227T>C (p.Phe409=)	rs778548877	0.00004
NM_000492.4(CFTR):c.1679+9C>G	rs775440240	0.00004
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile)	rs397508293	0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)	rs368505753	0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)	rs397508442	0.00004
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe)	rs139729994	0.00004
NM_000492.4(CFTR):c.393T>C (p.Phe131=)	rs1039221071	0.00004
NM_000492.4(CFTR):c.794T>G (p.Met265Arg)	rs148519623	0.00004
NM_000498.3(CYP11B2):c.737G>A (p.Arg246His)	rs369953763	0.00004
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser)	rs575121167	0.00004
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter)	rs121907962	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_000521.4(HEXB):c.1510C>T (p.Pro504Ser)	rs121907985	0.00004
NM_000521.4(HEXB):c.672T>C (p.Asp224=)	rs761223179	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.1868T>C (p.Ile623Thr)	rs141155833	0.00004
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys)	rs370860696	0.00004
NM_000527.5(LDLR):c.2575G>A (p.Val859Met)	rs202049029	0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)	rs139043155	0.00004
NM_000528.4(MAN2B1):c.2047-4G>A	rs768347546	0.00004
NM_000528.4(MAN2B1):c.2047-5C>T	rs200424566	0.00004
NM_000531.6(OTC):c.85C>G (p.Gln29Glu)	rs752916728	0.00004
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln)	rs778742647	0.00004
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr)	rs1353542774	0.00004
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln)	rs577625696	0.00004
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)	rs182812968	0.00004
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=)	rs552841217	0.00004
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)	rs727504166	0.00004
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser)	rs63750751	0.00004
NM_000642.3(AGL):c.1899+9C>G	rs768285138	0.00004
NM_000642.3(AGL):c.241T>C (p.Cys81Arg)	rs201584227	0.00004
NM_000642.3(AGL):c.3738A>T (p.Gly1246=)	rs780617757	0.00004
NM_000709.4(BCKDHA):c.349C>T (p.Arg117Cys)	rs188135164	0.00004
NM_000784.4(CYP27A1):c.845-1G>A	rs397515353	0.00004
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser)	rs543320028	0.00004
NM_001017420.3(ESCO2):c.742A>G (p.Thr248Ala)	rs750159862	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_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.938C>T (p.Ala313Val)	rs140551719	0.00004
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)	rs398123787	0.00004
NM_001142800.2(EYS):c.1470C>T (p.Gly490=)	rs778161042	0.00004
NM_001142800.2(EYS):c.7492G>C (p.Ala2498Pro)	rs1311193836	0.00004
NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu)	rs1161453292	0.00004
NM_001164507.2(NEB):c.21340C>T (p.Arg7114Trp)	rs186686151	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.18885G>A (p.Leu6295=)	rs141925015	0.00004
NM_001164508.2(NEB):c.19110T>C (p.Tyr6370=)	rs771969348	0.00004
NM_001164508.2(NEB):c.19214A>G (p.Tyr6405Cys)	rs368240939	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.20260G>A (p.Glu6754Lys)	rs776334631	0.00004
NM_001164508.2(NEB):c.20417T>C (p.Leu6806Pro)	rs767873861	0.00004
NM_001164508.2(NEB):c.20834C>T (p.Pro6945Leu)	rs376157878	0.00004
NM_001164508.2(NEB):c.21863A>G (p.Glu7288Gly)	rs747282707	0.00004
NM_001164508.2(NEB):c.22183G>A (p.Val7395Ile)	rs1396168176	0.00004
NM_001164508.2(NEB):c.22349C>T (p.Thr7450Ile)	rs575499014	0.00004
NM_001164508.2(NEB):c.23382G>A (p.Ser7794=)	rs770713773	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.23789C>A (p.Thr7930Asn)	rs760905651	0.00004
NM_001164508.2(NEB):c.23928G>A (p.Ser7976=)	rs558657964	0.00004
NM_001164508.2(NEB):c.24650G>A (p.Arg8217His)	rs201291446	0.00004
NM_001164508.2(NEB):c.24671C>T (p.Ser8224Leu)	rs746031384	0.00004
NM_001164508.2(NEB):c.25009G>A (p.Val8337Ile)	rs377336846	0.00004
NM_001164508.2(NEB):c.25073G>A (p.Arg8358His)	rs796797375	0.00004
NM_001164508.2(NEB):c.25130G>A (p.Arg8377Gln)	rs369174368	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.2921G>A (p.Arg974Gln)	rs368642083	0.00004
NM_001164508.2(NEB):c.3425A>T (p.Asp1142Val)	rs370976402	0.00004
NM_001164508.2(NEB):c.3571G>A (p.Val1191Ile)	rs767493706	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.4414T>C (p.Tyr1472His)	rs748121656	0.00004
NM_001164508.2(NEB):c.47A>T (p.Glu16Val)	rs748679499	0.00004
NM_001164508.2(NEB):c.491C>T (p.Ser164Leu)	rs747225286	0.00004
NM_001164508.2(NEB):c.5174T>C (p.Phe1725Ser)	rs368270996	0.00004
NM_001164508.2(NEB):c.5452-4A>G	rs376623225	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.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.1553C>A (p.Ala518Asp)	rs761852278	0.00004
NM_001243279.3(ACSF3):c.1721dup (p.His574fs)	rs768886326	0.00004
NM_001243279.3(ACSF3):c.666+9C>T	rs767663198	0.00004
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=)	rs377354800	0.00004
NM_001243279.3(ACSF3):c.936C>T (p.His312=)	rs202119269	0.00004
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His)	rs386834010	0.00004
NM_001283009.2(RTEL1):c.2428G>A (p.Gly810Arg)	rs545613984	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_001352514.2(HLCS):c.918A>G (p.Gly306=)	rs767988985	0.00004
NM_001360.3(DHCR7):c.725G>A (p.Arg242His)	rs80338857	0.00004
NM_001369.3(DNAH5):c.10378G>A (p.Val3460Met)	rs200012281	0.00004
NM_001369.3(DNAH5):c.10774A>C (p.Ile3592Leu)	rs758395320	0.00004
NM_001369.3(DNAH5):c.12209C>T (p.Thr4070Ile)	rs746662023	0.00004
NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met)	rs757109346	0.00004
NM_001369.3(DNAH5):c.12558C>T (p.Tyr4186=)	rs748817131	0.00004
NM_001369.3(DNAH5):c.13502G>A (p.Arg4501Gln)	rs781267941	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.4116G>C (p.Gln1372His)	rs139463637	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.6217A>G (p.Met2073Val)	rs752077073	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_001369.3(DNAH5):c.9218A>G (p.Tyr3073Cys)	rs138505566	0.00004
NM_001369.3(DNAH5):c.9714C>T (p.Ala3238=)	rs375561333	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.451-5T>G	rs774098604	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_001673.5(ASNS):c.146G>A (p.Arg49Gln)	rs769236847	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_001876.4(CPT1A):c.145G>A (p.Gly49Ser)	rs552007692	0.00004
NM_002225.5(IVD):c.287-1G>A	rs1398838997	0.00004
NM_002485.5(NBN):c.1089C>T (p.Tyr363=)	rs121908974	0.00004
NM_002529.4(NTRK1):c.1796G>A (p.Arg599His)	rs775718859	0.00004
NM_002529.4(NTRK1):c.288-5C>T	rs200860423	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.1403C>A (p.Thr468Lys)	rs386134221	0.00004
NM_003060.4(SLC22A5):c.769C>T (p.Arg257Trp)	rs386134203	0.00004
NM_003640.5(ELP1):c.2026G>A (p.Gly676Ser)	rs537930129	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.241G>A (p.Glu81Lys)	rs113994047	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.625+1G>A	rs386833822	0.00004
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)	rs767178508	0.00004
NM_004004.6(GJB2):c.533T>C (p.Val178Ala)	rs568612627	0.00004
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)	rs121964954	0.00004
NM_004629.2(FANCG):c.77A>G (p.Gln26Arg)	rs200677800	0.00004
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser)	rs138656762	0.00004
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)	rs113994206	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.647T>C (p.Val216Ala)	rs779694939	0.00004
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg)	rs398124209	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_006493.4(CLN5):c.486C>T (p.Gly162=)	rs769007858	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.1155C>T (p.Gly385=)	rs549401132	0.00004
NM_013339.4(ALG6):c.167+7T>C	rs374146302	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.1911C>T (p.Gly637=)	rs142275705	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_014249.4(NR2E3):c.1025T>C (p.Val342Ala)	rs757665544	0.00004
NM_014252.4(SLC25A15):c.255C>T (p.Tyr85=)	rs536354947	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_014363.6(SACS):c.6561C>T (p.Ile2187=)	rs143477126	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_015166.4(MLC1):c.1032C>T (p.Asn344=)	rs199707637	0.00004
NM_016277.5(RAB23):c.54A>G (p.Gly18=)	rs767442221	0.00004
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)	rs267606960	0.00004
NM_017777.4(MKS1):c.1014G>A (p.Leu338=)	rs201998680	0.00004
NM_018006.5(TRMU):c.1164G>A (p.Pro388=)	rs202047181	0.00004
NM_018006.5(TRMU):c.1218C>T (p.Ser406=)	rs754239335	0.00004
NM_018941.4(CLN8):c.661G>A (p.Gly221Ser)	rs386834136	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_020320.5(RARS2):c.943C>T (p.Arg315Ter)	rs199835443	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.518C>T (p.Ser173Leu)	rs752866557	0.00004
NM_023036.6(DNAI2):c.1142T>C (p.Leu381Pro)	rs373836524	0.00004
NM_023036.6(DNAI2):c.1260G>A (p.Pro420=)	rs200043910	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_031885.5(BBS2):c.534+1G>T	rs773862084	0.00004
NM_031885.5(BBS2):c.744T>C (p.His248=)	rs186893286	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_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.892del (p.Glu298fs)	rs770362721	0.00004
NM_057176.3(BSND):c.22C>T (p.Arg8Trp)	rs74315285	0.00004
NM_130849.4(SLC39A4):c.594C>T (p.Ala198=)	rs782355343	0.00004
NM_133259.4(LRPPRC):c.114C>T (p.Ser38=)	rs886056063	0.00004
NM_138413.4(HOGA1):c.720C>T (p.Cys240=)	rs183301169	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.4292G>A (p.Cys1431Tyr)	rs753307105	0.00004
NM_152564.5(VPS13B):c.10310C>T (p.Ser3437Phe)	rs200268089	0.00004
NM_152564.5(VPS13B):c.10890T>C (p.Asp3630=)	rs773474909	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.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_152618.3(BBS12):c.2100T>C (p.Asn700=)	rs145847043	0.00004
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu)	rs1450190654	0.00004
NM_153006.3(NAGS):c.534G>A (p.Pro178=)	rs539061299	0.00004
NM_153006.3(NAGS):c.940G>A (p.Ala314Thr)	rs186127828	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_182760.4(SUMF1):c.602+1G>A	rs143616931	0.00004
NM_206933.4(USH2A):c.1530C>T (p.Asp510=)	rs200940197	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.7595-2144A>G	rs786200928	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_003051.4(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.157C>T (p.Arg53Cys)	rs398123072	0.00003
NM_000016.6(ACADM):c.407C>T (p.Ala136Val)	rs750792245	0.00003
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys)	rs778906552	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.1376G>A (p.Arg459Gln)	rs751995154	0.00003
NM_000018.4(ACADVL):c.1605+7G>A	rs572010910	0.00003
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)	rs118204014	0.00003
NM_000022.4(ADA):c.1079-7C>T	rs551934402	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.522C>T (p.Asn174=)	rs148960833	0.00003
NM_000030.3(AGXT):c.27C>A (p.Thr9=)	rs180177188	0.00003
NM_000030.3(AGXT):c.847-3C>G	rs180177286	0.00003
NM_000033.4(ABCD1):c.436T>A (p.Phe146Ile)	rs782720024	0.00003
NM_000035.4(ALDOB):c.-11+1G>C	rs181639417	0.00003
NM_000046.5(ARSB):c.729G>A (p.Glu243=)	rs144029271	0.00003
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys)	rs28940287	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_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.275A>C (p.Lys92Thr)	rs200151849	0.00003
NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr)	rs769980220	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.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.2668G>A (p.Val890Met)	rs786204718	0.00003
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)	rs750019452	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.3818C>T (p.Pro1273Leu)	rs758355520	0.00003
NM_000057.4(BLM):c.3210+2del	rs587779886	0.00003
NM_000070.3(CAPN3):c.1077G>A (p.Pro359=)	rs759384108	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.1316G>A (p.Arg439Gln)	rs756467921	0.00003
NM_000071.3(CBS):c.374G>A (p.Arg125Gln)	rs781444670	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_000092.5(COL4A4):c.1202C>T (p.Ala401Val)	rs199581317	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.3064G>A (p.Val1022Ile)	rs562548943	0.00003
NM_000094.4(COL7A1):c.4782+9A>T	rs369635501	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_000094.4(COL7A1):c.8505C>T (p.Arg2835=)	rs748854889	0.00003
NM_000098.3(CPT2):c.985G>T (p.Asp329Tyr)	rs750191719	0.00003
NM_000102.4(CYP17A1):c.374G>A (p.Arg125Gln)	rs104894154	0.00003
NM_000103.4(CYP19A1):c.1303C>T (p.Arg435Cys)	rs121434534	0.00003
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs)	rs386833497	0.00003
NM_000128.4(F11):c.1683C>T (p.Ala561=)	rs770473069	0.00003
NM_000133.4(F9):c.391+4A>G	rs749754992	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.1964C>G (p.Ala655Gly)	rs1306842168	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.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.4199G>A (p.Arg1400His)	rs149851163	0.00003
NM_000136.3(FANCC):c.1330-6G>T	rs1223668739	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_000152.5(GAA):c.1316T>A (p.Met439Lys)	rs747610090	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.2105G>A (p.Arg702His)	rs398123172	0.00003
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)	rs121907938	0.00003
NM_000152.5(GAA):c.2190-4G>A	rs759974338	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.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_000156.6(GAMT):c.298C>T (p.Arg100Trp)	rs552210450	0.00003
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg)	rs61748906	0.00003
NM_000158.4(GBE1):c.143+8C>G	rs750447886	0.00003
NM_000159.4(GCDH):c.38G>A (p.Arg13His)	rs550100640	0.00003
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp)	rs766518430	0.00003
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter)	rs386833517	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.2665+1G>C	rs149070244	0.00003
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly)	rs188269735	0.00003
NM_000182.5(HADHA):c.1793_1794del (p.His598fs)	rs769580842	0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)	rs104894639	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_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.708T>C (p.His236=)	rs750844357	0.00003
NM_000235.4(LIPA):c.846A>G (p.Thr282=)	rs534838107	0.00003
NM_000237.3(LPL):c.112G>A (p.Glu38Lys)	rs557015233	0.00003
NM_000243.3(MEFV):c.1179C>T (p.Pro393=)	rs104895082	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.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_000260.4(MYO7A):c.397C>A (p.His133Asn)	rs111033403	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_000277.3(PAH):c.1068C>G (p.Tyr356Ter)	rs62516095	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.631C>A (p.Pro211Thr)	rs62514931	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.1929C>T (p.Ala643=)	rs772945583	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_000317.3(PTS):c.370G>T (p.Val124Leu)	rs150726932	0.00003
NM_000352.6(ABCC8):c.1407A>C (p.Leu469=)	rs751643248	0.00003
NM_000352.6(ABCC8):c.2235C>T (p.Ser745=)	rs200708414	0.00003
NM_000352.6(ABCC8):c.3439C>T (p.Leu1147=)	rs372257088	0.00003
NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=)	rs540122589	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_000359.3(TGM1):c.2337C>T (p.His779=)	rs755635993	0.00003
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln)	rs121918717	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_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.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_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe)	rs375576481	0.00003
NM_000441.2(SLC26A4):c.2089+1G>A	rs727503430	0.00003
NM_000466.3(PEX1):c.721T>C (p.Ser241Pro)	rs753823218	0.00003
NM_000481.4(AMT):c.217C>T (p.Arg73Cys)	rs386833679	0.00003
NM_000481.4(AMT):c.583G>A (p.Val195Met)	rs372496075	0.00003
NM_000481.4(AMT):c.878-1G>A	rs181134220	0.00003
NM_000487.6(ARSA):c.1107+9G>A	rs768146306	0.00003
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser)	rs74315459	0.00003
NM_000489.6(ATRX):c.2001G>A (p.Pro667=)	rs139997330	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.4210A>G (p.Thr1404Ala)	rs781835568	0.00003
NM_000489.6(ATRX):c.5073A>G (p.Gln1691=)	rs781845474	0.00003
NM_000492.4(CFTR):c.1040G>A (p.Arg347His)	rs77932196	0.00003
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)	rs73215912	0.00003
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)	rs201124247	0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)	rs139729994	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_000521.4(HEXB):c.1597C>T (p.Arg533Cys)	rs764552042	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.1747C>T (p.His583Tyr)	rs730882109	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.2411T>C (p.Leu804Pro)	rs879255203	0.00003
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser)	rs750474121	0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)	rs121908029	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.1779A>G (p.Pro593=)	rs146778702	0.00003
NM_000528.4(MAN2B1):c.2298C>T (p.Asn766=)	rs746514019	0.00003
NM_000532.5(PCCB):c.1398+1G>T	rs794727092	0.00003
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser)	rs587779408	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.288+9C>T	rs398123497	0.00003
NM_000709.4(BCKDHA):c.330A>T (p.Thr110=)	rs201366184	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.891C>T (p.Arg297=)	rs187669174	0.00003
NM_000784.4(CYP27A1):c.1263+1G>A	rs397515355	0.00003
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln)	rs121908097	0.00003
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln)	rs376230356	0.00003
NM_001003722.2(GLE1):c.1964+7G>A	rs200856711	0.00003
NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr)	rs373418195	0.00003
NM_001126108.2(SLC12A3):c.1543A>G (p.Ile515Val)	rs554432544	0.00003
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu)	rs779160677	0.00003
NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys)	rs146158333	0.00003
NM_001127671.2(LIFR):c.2670+6C>G	rs898718526	0.00003
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro)	rs200916654	0.00003
NM_001142800.2(EYS):c.1314A>G (p.Pro438=)	rs375043207	0.00003
NM_001142800.2(EYS):c.6726-7C>T	rs886782734	0.00003
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter)	rs779983752	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.91G>A (p.Glu31Lys)	rs572189652	0.00003
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs)	rs1326370032	0.00003
NM_001164508.2(NEB):c.104C>T (p.Thr35Met)	rs749153659	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.11806-7C>A	rs779713133	0.00003
NM_001164508.2(NEB):c.125A>G (p.Tyr42Cys)	rs756162358	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.19082G>A (p.Ser6361Asn)	rs768390701	0.00003
NM_001164508.2(NEB):c.19724G>A (p.Arg6575His)	rs185999504	0.00003
NM_001164508.2(NEB):c.19801G>A (p.Val6601Met)	rs553079055	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.20434A>G (p.Met6812Val)	rs370764959	0.00003
NM_001164508.2(NEB):c.20972G>A (p.Arg6991His)	rs781020561	0.00003
NM_001164508.2(NEB):c.21155A>G (p.Tyr7052Cys)	rs755165133	0.00003
NM_001164508.2(NEB):c.21604C>T (p.Arg7202Cys)	rs200826420	0.00003
NM_001164508.2(NEB):c.21779A>G (p.Lys7260Arg)	rs200250294	0.00003
NM_001164508.2(NEB):c.22110A>G (p.Pro7370=)	rs539800267	0.00003
NM_001164508.2(NEB):c.22433G>A (p.Arg7478His)	rs767207985	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.23416C>G (p.Gln7806Glu)	rs750689059	0.00003
NM_001164508.2(NEB):c.23425C>T (p.Arg7809Trp)	rs762220487	0.00003
NM_001164508.2(NEB):c.24649C>T (p.Arg8217Cys)	rs542275170	0.00003
NM_001164508.2(NEB):c.24707C>T (p.Pro8236Leu)	rs571935637	0.00003
NM_001164508.2(NEB):c.25162C>T (p.Arg8388Cys)	rs371600800	0.00003
NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln)	rs749034995	0.00003
NM_001164508.2(NEB):c.25184G>A (p.Arg8395Gln)	rs779983347	0.00003
NM_001164508.2(NEB):c.3246G>A (p.Ala1082=)	rs372664114	0.00003
NM_001164508.2(NEB):c.3640G>A (p.Glu1214Lys)	rs764769462	0.00003
NM_001164508.2(NEB):c.4204A>G (p.Asn1402Asp)	rs1219268531	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.6325A>G (p.Thr2109Ala)	rs578023308	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.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_001243279.3(ACSF3):c.1524G>A (p.Pro508=)	rs375187216	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.569C>T (p.Pro190Leu)	rs534858065	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.461C>G (p.Thr154Arg)	rs143312232	0.00003
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys)	rs565893436	0.00003
NM_001369.3(DNAH5):c.10041G>T (p.Met3347Ile)	rs536239913	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.12104C>T (p.Thr4035Met)	rs200894344	0.00003
NM_001369.3(DNAH5):c.12857G>A (p.Gly4286Glu)	rs185104576	0.00003
NM_001369.3(DNAH5):c.1435C>T (p.Arg479Cys)	rs200494845	0.00003
NM_001369.3(DNAH5):c.1810T>C (p.Ser604Pro)	rs769275003	0.00003
NM_001369.3(DNAH5):c.3064G>A (p.Val1022Ile)	rs375218798	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.4331A>G (p.Asn1444Ser)	rs567013299	0.00003
NM_001369.3(DNAH5):c.5710-2A>G	rs548521732	0.00003
NM_001369.3(DNAH5):c.6444+1G>A	rs781236248	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.535G>A (p.Val179Met)	rs397514375	0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg)	rs397507176	0.00003
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=)	rs199603690	0.00003
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=)	rs750362630	0.00003
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala)	rs148362467	0.00003
NM_001399.5(EDA):c.1014G>A (p.Thr338=)	rs750674219	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.1175G>A (p.Arg392His)	rs982218848	0.00003
NM_002225.5(IVD):c.264C>T (p.Gly88=)	rs377199313	0.00003
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr)	rs369326210	0.00003
NM_002529.4(NTRK1):c.1473C>T (p.Ile491=)	rs373181158	0.00003
NM_002529.4(NTRK1):c.1778G>A (p.Arg593Gln)	rs748133401	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.676G>A (p.Gly226Ser)	rs760918699	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.131C>T (p.Ala44Val)	rs199689597	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_003742.4(ABCB11):c.2296G>A (p.Gly766Arg)	rs763782349	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_003907.3(EIF2B5):c.944G>A (p.Arg315His)	rs113994064	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.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_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.1084G>A (p.Gly362Arg)	rs369711837	0.00003
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu)	rs377656387	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_004937.3(CTNS):c.621C>T (p.Phe207=)	rs749428707	0.00003
NM_005476.7(GNE):c.175C>T (p.Arg59Ter)	rs745517517	0.00003
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter)	rs757523840	0.00003
NM_005476.7(GNE):c.527A>T (p.Asp176Val)	rs139425890	0.00003
NM_005476.7(GNE):c.737G>A (p.Arg246Gln)	rs121908629	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.2412G>A (p.Arg804=)	rs199927544	0.00003
NM_005609.4(PYGM):c.780C>T (p.Val260=)	rs754415422	0.00003
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter)	rs767739769	0.00003
NM_005629.4(SLC6A8):c.1285C>G (p.Leu429Val)	rs782551106	0.00003
NM_005726.6(TSFM):c.816C>T (p.Asp272=)	rs183575246	0.00003
NM_006096.4(NDRG1):c.42G>A (p.Lys14=)	rs753261868	0.00003
NM_006493.4(CLN5):c.420A>G (p.Gln140=)	rs753732321	0.00003
NM_012144.4(DNAI1):c.1109T>C (p.Leu370Pro)	rs201677978	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.994C>A (p.Arg332Ser)	rs182015909	0.00003
NM_012434.5(SLC17A5):c.804A>G (p.Ser268=)	rs750559102	0.00003
NM_014049.5(ACAD9):c.1832A>G (p.Tyr611Cys)	rs1057523761	0.00003
NM_014140.4(SMARCAL1):c.1414G>A (p.Ala472Thr)	rs571392819	0.00003
NM_014140.4(SMARCAL1):c.1761C>T (p.Pro587=)	rs781340148	0.00003
NM_014140.4(SMARCAL1):c.888G>A (p.Thr296=)	rs140707035	0.00003
NM_014244.5(ADAMTS2):c.2100C>T (p.Asp700=)	rs560354978	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_014251.3(SLC25A13):c.615+5G>A	rs80338717	0.00003
NM_014363.6(SACS):c.7497C>T (p.Val2499=)	rs774558627	0.00003
NM_014844.5(TECPR2):c.1203C>T (p.Ser401=)	rs759378757	0.00003
NM_014844.5(TECPR2):c.2967G>A (p.Thr989=)	rs1345090533	0.00003
NM_014844.5(TECPR2):c.351T>G (p.Leu117=)	rs771585977	0.00003
NM_014844.5(TECPR2):c.999G>A (p.Ser333=)	rs369972265	0.00003
NM_015506.3(MMACHC):c.495G>A (p.Leu165=)	rs761111018	0.00003
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)	rs386834019	0.00003
NM_018941.4(CLN8):c.582G>A (p.Gln194=)	rs139824802	0.00003
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter)	rs121908373	0.00003
NM_020533.3(MCOLN1):c.707G>A (p.Arg236Gln)	rs528887619	0.00003
NM_020533.3(MCOLN1):c.920del (p.Leu307fs)	rs755042147	0.00003
NM_024312.5(GNPTAB):c.3335+1G>A	rs34940801	0.00003
NM_024649.5(BBS1):c.1338C>T (p.Thr446=)	rs368302072	0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)	rs376894444	0.00003
NM_024685.4(BBS10):c.462G>A (p.Leu154=)	rs764687344	0.00003
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)	rs147030232	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_052845.4(MMAB):c.732G>A (p.Ser244=)	rs186864802	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_138413.4(HOGA1):c.907C>T (p.Arg303Cys)	rs149150736	0.00003
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs)	rs765209037	0.00003
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter)	rs779050294	0.00003
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser)	rs142107837	0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs)	rs398124483	0.00003
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr)	rs201611688	0.00003
NM_138694.4(PKHD1):c.4845G>A (p.Thr1615=)	rs750233738	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_152564.5(VPS13B):c.1121C>T (p.Thr374Ile)	rs753781360	0.00003
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met)	rs547184348	0.00003
NM_152564.5(VPS13B):c.8448T>C (p.Ile2816=)	rs763701016	0.00003
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=)	rs775883776	0.00003
NM_152618.3(BBS12):c.1092del (p.Glu365fs)	rs770218590	0.00003
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)	rs397517963	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.9842G>T (p.Cys3281Phe)	rs727504654	0.00003
NM_213653.4(HJV):c.665T>A (p.Ile222Asn)	rs74315325	0.00003
NM_000016.6(ACADM):c.238A>G (p.Arg80Gly)	rs758476299	0.00002
NM_000016.6(ACADM):c.276A>G (p.Pro92=)	rs1212443202	0.00002
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr)	rs758111285	0.00002
NM_000016.6(ACADM):c.709-13A>G	rs746483754	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.1679-6G>A	rs113994171	0.00002
NM_000018.4(ACADVL):c.519C>T (p.Gly173=)	rs757830946	0.00002
NM_000018.4(ACADVL):c.709T>C (p.Cys237Arg)	rs1189763523	0.00002
NM_000018.4(ACADVL):c.858G>A (p.Arg286=)	rs531514327	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_000022.4(ADA):c.529G>A (p.Val177Met)	rs121908719	0.00002
NM_000022.4(ADA):c.911T>G (p.Leu304Arg)	rs199422327	0.00002
NM_000023.4(SGCA):c.242G>A (p.Arg81His)	rs747984529	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.1152C>T (p.Ala384=)	rs782095899	0.00002
NM_000033.4(ABCD1):c.1327G>A (p.Ala443Thr)	rs782647014	0.00002
NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser)	rs782158792	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_000035.4(ALDOB):c.255C>T (p.Tyr85=)	rs761063847	0.00002
NM_000048.4(ASL):c.243G>C (p.Leu81=)	rs774204716	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_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.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.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_000052.7(ATP7A):c.3736A>G (p.Met1246Val)	rs1385333276	0.00002
NM_000053.4(ATP7B):c.1122C>G (p.Val374=)	rs201254466	0.00002
NM_000053.4(ATP7B):c.2374C>T (p.Leu792=)	rs757244072	0.00002
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr)	rs201497300	0.00002
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys)	rs756029120	0.00002
NM_000053.4(ATP7B):c.4035C>T (p.Pro1345=)	rs564541246	0.00002
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu)	rs756718353	0.00002
NM_000057.4(BLM):c.3028del (p.Asp1010fs)	rs780379121	0.00002
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln)	rs587779888	0.00002
NM_000070.3(CAPN3):c.1422G>A (p.Ser474=)	rs367855757	0.00002
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)	rs587780290	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.689del (p.Leu230fs)	rs775351239	0.00002
NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs)	rs776927709	0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)	rs772708743	0.00002
NM_000091.5(COL4A3):c.964T>C (p.Leu322=)	rs1213929853	0.00002
NM_000092.5(COL4A4):c.1893A>G (p.Gly631=)	rs370886041	0.00002
NM_000094.4(COL7A1):c.2249C>T (p.Thr750Met)	rs377763372	0.00002
NM_000094.4(COL7A1):c.2734C>T (p.Leu912=)	rs773201784	0.00002
NM_000094.4(COL7A1):c.3565A>G (p.Met1189Val)	rs546776797	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.5440C>T (p.Arg1814Cys)	rs778035441	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.6045G>A (p.Gly2015=)	rs934784670	0.00002
NM_000098.3(CPT2):c.1404G>A (p.Gln468=)	rs140771069	0.00002
NM_000098.3(CPT2):c.1460A>C (p.Glu487Ala)	rs368132822	0.00002
NM_000098.3(CPT2):c.340+10C>G	rs781682674	0.00002
NM_000108.5(DLD):c.597A>T (p.Thr199=)	rs768248572	0.00002
NM_000128.4(F11):c.696T>C (p.His232=)	rs746382259	0.00002
NM_000135.4(FANCA):c.1087T>C (p.Phe363Leu)	rs531100141	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.2008C>T (p.Arg670Cys)	rs587778312	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.2778+1G>A	rs140180549	0.00002
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys)	rs777825824	0.00002
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=)	rs146062039	0.00002
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met)	rs142833057	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.604G>A (p.Asp202Asn)	rs779131886	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_000136.3(FANCC):c.843+1G>A	rs587779909	0.00002
NM_000137.4(FAH):c.391C>T (p.Arg131Trp)	rs147946196	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.648G>T (p.Leu216=)	rs80356484	0.00002
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val)	rs80356483	0.00002
NM_000152.5(GAA):c.1076-22T>G	rs762260678	0.00002
NM_000152.5(GAA):c.1275G>A (p.Pro425=)	rs762826072	0.00002
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)	rs772883420	0.00002
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys)	rs991082382	0.00002
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser)	rs1278340100	0.00002
NM_000152.5(GAA):c.1881C>T (p.Ser627=)	rs779328815	0.00002
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)	rs757617999	0.00002
NM_000152.5(GAA):c.2668G>C (p.Val890Leu)	rs377286472	0.00002
NM_000152.5(GAA):c.309C>T (p.Cys103=)	rs373307393	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.858G>A (p.Thr286=)	rs201056962	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.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_000153.4(GALC):c.857G>A (p.Gly286Asp)	rs199847983	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_000159.4(GCDH):c.937C>T (p.Arg313Trp)	rs779315456	0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His)	rs372966991	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_000182.5(HADHA):c.955G>A (p.Gly319Ser)	rs752317877	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.364G>A (p.Gly122Arg)	rs761607612	0.00002
NM_000199.5(SGSH):c.537C>T (p.Asp179=)	rs771440037	0.00002
NM_000202.8(IDS):c.696C>T (p.Phe232=)	rs782498858	0.00002
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val)	rs527336882	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.455-8A>G	rs781649645	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_000232.5(SGCB):c.271C>T (p.Arg91Cys)	rs555514820	0.00002
NM_000243.3(MEFV):c.1061G>A (p.Arg354Gln)	rs763015849	0.00002
NM_000243.3(MEFV):c.1898C>T (p.Pro633Leu)	rs976279218	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.741C>T (p.Val247=)	rs374360983	0.00002
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter)	rs376764423	0.00002
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)	rs104894595	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.1819C>A (p.Arg607=)	rs377130051	0.00002
NM_000271.5(NPC1):c.2347T>C (p.Leu783=)	rs200384578	0.00002
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr)	rs765729815	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.806del (p.Ile269fs)	rs62508687	0.00002
NM_000277.3(PAH):c.870T>C (p.His290=)	rs751203209	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.484C>T (p.Arg162Trp)	rs104894526	0.00002
NM_000317.3(PTS):c.186+9A>G	rs202139885	0.00002
NM_000317.3(PTS):c.84-3C>G	rs1230781262	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.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_000360.4(TH):c.1422C>T (p.Ala474=)	rs375735482	0.00002
NM_000360.4(TH):c.364C>T (p.Arg122Ter)	rs771610752	0.00002
NM_000370.3(TTPA):c.2T>C (p.Met1Thr)	rs786204758	0.00002
NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys)	rs72547566	0.00002
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn)	rs72547568	0.00002
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp)	rs140630532	0.00002
NM_000391.4(TPP1):c.1281G>A (p.Thr427=)	rs577520250	0.00002
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu)	rs121908202	0.00002
NM_000391.4(TPP1):c.1552-9C>T	rs369699167	0.00002
NM_000396.4(CTSK):c.746T>C (p.Ile249Thr)	rs199919553	0.00002
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys)	rs147952620	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.1920G>A (p.Trp640Ter)	rs368119540	0.00002
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu)	rs199588131	0.00002
NM_000441.2(SLC26A4):c.55del (p.Ser19fs)	rs1057516634	0.00002
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp)	rs398123408	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.782_783del (p.Gln261fs)	rs749067142	0.00002
NM_000478.6(ALPL):c.1348C>T (p.Arg450Cys)	rs138690664	0.00002
NM_000478.6(ALPL):c.655A>G (p.Met219Val)	rs772432010	0.00002
NM_000478.6(ALPL):c.667C>T (p.Arg223Trp)	rs766076920	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_000489.6(ATRX):c.1130C>T (p.Ala377Val)	rs781955237	0.00002
NM_000489.6(ATRX):c.1257G>A (p.Ala419=)	rs185550133	0.00002
NM_000489.6(ATRX):c.1468G>A (p.Gly490Ser)	rs1378005125	0.00002
NM_000489.6(ATRX):c.1758A>G (p.Leu586=)	rs781987630	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.3646A>G (p.Ile1216Val)	rs782062542	0.00002
NM_000489.6(ATRX):c.3664G>A (p.Asp1222Asn)	rs782520515	0.00002
NM_000489.6(ATRX):c.4096G>A (p.Val1366Ile)	rs1280555560	0.00002
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)	rs121908753	0.00002
NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg)	rs368516826	0.00002
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn)	rs397508300	0.00002
NM_000492.4(CFTR):c.3024C>T (p.Val1008=)	rs774643457	0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)	rs397508537	0.00002
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg)	rs80282562	0.00002
NM_000492.4(CFTR):c.869+8G>T	rs773933167	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_000520.6(HEXA):c.1421+1G>C	rs147324677	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.906C>T (p.Ser302=)	rs765612435	0.00002
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn)	rs767767730	0.00002
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met)	rs149227308	0.00002
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met)	rs755154048	0.00002
NM_000527.5(LDLR):c.1706-21_1706-19del	rs386134242	0.00002
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn)	rs201971888	0.00002
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr)	rs774730452	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.1109+10G>A	rs779635675	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_000531.6(OTC):c.216+9C>T	rs774764719	0.00002
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys)	rs549397464	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_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter)	rs533885672	0.00002
NM_000784.4(CYP27A1):c.315C>T (p.His105=)	rs753981913	0.00002
NM_001033855.3(DCLRE1C):c.1224G>A (p.Pro408=)	rs532892332	0.00002
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)	rs119464998	0.00002
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)	rs121908955	0.00002
NM_001142800.2(EYS):c.-351C>T	rs761045622	0.00002
NM_001142800.2(EYS):c.151T>C (p.Leu51=)	rs757997501	0.00002
NM_001142800.2(EYS):c.1999C>T (p.Arg667Cys)	rs765763663	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.9344T>A (p.Val3115Asp)	rs748838955	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_001164507.2(NEB):c.21348T>A (p.Asp7116Glu)	rs199934793	0.00002
NM_001164508.2(NEB):c.10471A>G (p.Met3491Val)	rs761174573	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.17938G>A (p.Ala5980Thr)	rs1267739726	0.00002
NM_001164508.2(NEB):c.18140A>G (p.Tyr6047Cys)	rs533393007	0.00002
NM_001164508.2(NEB):c.18255G>A (p.Met6085Ile)	rs553375465	0.00002
NM_001164508.2(NEB):c.18366+9G>A	rs759834773	0.00002
NM_001164508.2(NEB):c.18693+9_18693+10del	rs756671954	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.19543C>T (p.Arg6515Cys)	rs765363585	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.20144A>G (p.Asn6715Ser)	rs536934629	0.00002
NM_001164508.2(NEB):c.20728G>A (p.Ala6910Thr)	rs750152377	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.22984C>T (p.His7662Tyr)	rs373852098	0.00002
NM_001164508.2(NEB):c.23198C>T (p.Pro7733Leu)	rs372387518	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.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.3370C>T (p.Arg1124Trp)	rs758590520	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.3759G>A (p.Thr1253=)	rs763075598	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.4392C>T (p.Gly1464=)	rs771527086	0.00002
NM_001164508.2(NEB):c.4548T>C (p.Tyr1516=)	rs748479655	0.00002
NM_001164508.2(NEB):c.4664G>A (p.Arg1555Lys)	rs183333679	0.00002
NM_001164508.2(NEB):c.4666C>T (p.Pro1556Ser)	rs756692621	0.00002
NM_001164508.2(NEB):c.4883C>A (p.Pro1628His)	rs771495234	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.7860C>T (p.Ser2620=)	rs753267809	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.480C>T (p.Val160=)	rs375671065	0.00002
NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter)	rs145583876	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_001365088.1(SLC12A6):c.2385C>T (p.Val795=)	rs562984167	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.11130T>C (p.Arg3710=)	rs765391783	0.00002
NM_001369.3(DNAH5):c.11438G>A (p.Arg3813Gln)	rs143612682	0.00002
NM_001369.3(DNAH5):c.12076G>A (p.Glu4026Lys)	rs776854779	0.00002
NM_001369.3(DNAH5):c.12727C>T (p.Arg4243Cys)	rs150357258	0.00002
NM_001369.3(DNAH5):c.13005C>T (p.Thr4335=)	rs755271975	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.1892G>A (p.Arg631His)	rs370272258	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.4319A>C (p.Glu1440Ala)	rs147322363	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.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.660+10A>G	rs750383077	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.841G>A (p.Val281Ile)	rs548585661	0.00002
NM_001369.3(DNAH5):c.8948C>T (p.Thr2983Met)	rs750809719	0.00002
NM_001369.3(DNAH5):c.9111T>C (p.Ser3037=)	rs765029802	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.468G>T (p.Lys156Asn)	rs397514367	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.2961G>A (p.Leu987=)	rs745503022	0.00002
NM_001378454.1(ALMS1):c.5765T>C (p.Val1922Ala)	rs761428155	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_001399.5(EDA):c.396+10C>T	rs754163471	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.357C>T (p.Ser119=)	rs776924775	0.00002
NM_002225.5(IVD):c.865G>A (p.Gly289Arg)	rs568885234	0.00002
NM_002485.5(NBN):c.104T>C (p.Ile35Thr)	rs587780773	0.00002
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)	rs587782545	0.00002
NM_002485.5(NBN):c.254A>G (p.Asn85Ser)	rs587780095	0.00002
NM_002529.4(NTRK1):c.1237G>C (p.Glu413Gln)	rs199826686	0.00002
NM_002529.4(NTRK1):c.1805+8C>A	rs780424308	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.1521G>C (p.Leu507Phe)	rs778716973	0.00002
NM_003060.4(SLC22A5):c.183C>G (p.Ala61=)	rs1226557478	0.00002
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter)	rs386134212	0.00002
NM_003982.4(SLC7A7):c.1460del (p.Cys487fs)	rs386833809	0.00002
NM_003982.4(SLC7A7):c.545dup (p.Val183fs)	rs386833818	0.00002
NM_004004.6(GJB2):c.510C>T (p.Asn170=)	rs763068053	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_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.2417C>A (p.Ala806Asp)	rs386833912	0.00002
NM_004646.4(NPHS1):c.2523G>A (p.Glu841=)	rs1215088730	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_005476.7(GNE):c.2005G>A (p.Gly669Arg)	rs776384541	0.00002
NM_005476.7(GNE):c.829C>T (p.Arg277Cys)	rs762106720	0.00002
NM_005609.4(PYGM):c.1239+8C>T	rs886048461	0.00002
NM_005609.4(PYGM):c.2083G>A (p.Gly695Arg)	rs768604948	0.00002
NM_005629.4(SLC6A8):c.76G>A (p.Gly26Arg)	rs1233444890	0.00002
NM_006096.4(NDRG1):c.141G>A (p.Thr47=)	rs750933446	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_006623.4(PHGDH):c.1365A>G (p.Pro455=)	rs1264262485	0.00002
NM_006623.4(PHGDH):c.804G>A (p.Arg268=)	rs587719252	0.00002
NM_012203.2(GRHPR):c.108G>A (p.Ser36=)	rs377072887	0.00002
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=)	rs386833990	0.00002
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp)	rs753711253	0.00002
NM_014249.4(NR2E3):c.290G>A (p.Arg97His)	rs1489149705	0.00002
NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys)	rs527236086	0.00002
NM_014251.3(SLC25A13):c.1344T>C (p.Pro448=)	rs1037190907	0.00002
NM_014251.3(SLC25A13):c.1506G>A (p.Pro502=)	rs144494809	0.00002
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile)	rs201724656	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.800G>A (p.Arg267Gln)	rs765822392	0.00002
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)	rs190057175	0.00002
NM_018006.5(TRMU):c.1102-3C>G	rs753039116	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.758C>T (p.Pro253Leu)	rs202083272	0.00002
NM_020533.3(MCOLN1):c.1074C>T (p.Leu358=)	rs535003448	0.00002
NM_022132.5(MCCC2):c.129+3A>G	rs1352606118	0.00002
NM_023036.6(DNAI2):c.290G>A (p.Arg97Gln)	rs775926673	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.266C>T (p.Pro89Leu)	rs770711331	0.00002
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys)	rs1247934219	0.00002
NM_024312.5(GNPTAB):c.513A>G (p.Ala171=)	rs371813268	0.00002
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys)	rs193922709	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.1780C>T (p.Arg594Ter)	rs762047808	0.00002
NM_031885.5(BBS2):c.2088T>C (p.Thr696=)	rs886052144	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.7078G>A (p.Glu2360Lys)	rs370401336	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_138413.4(HOGA1):c.208C>T (p.Arg70Ter)	rs758304537	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.10743C>T (p.Leu3581=)	rs770308751	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.2507T>C (p.Val836Ala)	rs199568593	0.00002
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln)	rs201753421	0.00002
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)	rs773136605	0.00002
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu)	rs191201723	0.00002
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys)	rs777999875	0.00002
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg)	rs398124497	0.00002
NM_152419.3(HGSNAT):c.1250+1G>A	rs398124544	0.00002
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys)	rs753355844	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.5845C>T (p.Arg1949Ter)	rs180177365	0.00002
NM_152564.5(VPS13B):c.672C>T (p.Tyr224=)	rs760171272	0.00002
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter)	rs386834113	0.00002
NM_152564.5(VPS13B):c.9573A>G (p.Ala3191=)	rs189680814	0.00002
NM_152564.5(VPS13B):c.9816G>A (p.Gln3272=)	rs1397608904	0.00002
NM_153717.3(EVC):c.2782+1G>T	rs1007534611	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_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.15017C>T (p.Thr5006Met)	rs757676723	0.00002
NM_000016.6(ACADM):c.1052C>T (p.Thr351Ile)	rs766140986	0.00001
NM_000016.6(ACADM):c.1115C>A (p.Ala372Asp)	rs781424858	0.00001
NM_000016.6(ACADM):c.1237C>T (p.Arg413Cys)	rs139686925	0.00001
NM_000016.6(ACADM):c.1238G>A (p.Arg413His)	rs1337929727	0.00001
NM_000016.6(ACADM):c.320T>C (p.Leu107Ser)	rs746136472	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.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.661G>A (p.Gly221Arg)	rs753627680	0.00001
NM_000016.6(ACADM):c.728G>A (p.Arg243Gln)	rs373852490	0.00001
NM_000016.6(ACADM):c.849+2T>C	rs780737237	0.00001
NM_000016.6(ACADM):c.92G>A (p.Arg31His)	rs529894272	0.00001
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser)	rs758928307	0.00001
NM_000018.4(ACADVL):c.1182+3G>T	rs376281637	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.1405C>T (p.Arg469Trp)	rs113994170	0.00001
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln)	rs398123083	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.1807dup (p.Cys603fs)	rs1555529088	0.00001
NM_000018.4(ACADVL):c.374T>C (p.Leu125Pro)	rs1416443472	0.00001
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)	rs545215807	0.00001
NM_000018.4(ACADVL):c.63-2A>C	rs1555527513	0.00001
NM_000018.4(ACADVL):c.753-2A>C	rs398123092	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_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.472A>G (p.Asn158Asp)	rs148639841	0.00001
NM_000022.4(ADA):c.43C>G (p.His15Asp)	rs121908725	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.58G>A (p.Gly20Arg)	rs121908724	0.00001
NM_000022.4(ADA):c.631C>T (p.Arg211Cys)	rs121908740	0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)	rs372210292	0.00001
NM_000023.4(SGCA):c.591C>T (p.Tyr197=)	rs756137267	0.00001
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)	rs748936034	0.00001
NM_000023.4(SGCA):c.80C>T (p.Thr27Met)	rs565069721	0.00001
NM_000023.4(SGCA):c.851G>A (p.Arg284His)	rs369359375	0.00001
NM_000030.3(AGXT):c.2T>C (p.Met1Thr)	rs138584408	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.1165C>T (p.Arg389Cys)	rs128624215	0.00001
NM_000033.4(ABCD1):c.1181C>T (p.Ala394Val)	rs1324874967	0.00001
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln)	rs1046633404	0.00001
NM_000033.4(ABCD1):c.1260C>A (p.His420Gln)	rs782066367	0.00001
NM_000033.4(ABCD1):c.1369G>C (p.Val457Leu)	rs781866876	0.00001
NM_000033.4(ABCD1):c.1893C>T (p.Cys631=)	rs1557055319	0.00001
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr)	rs782487174	0.00001
NM_000033.4(ABCD1):c.809C>T (p.Ala270Val)	rs781970988	0.00001
NM_000035.4(ALDOB):c.243C>T (p.His81=)	rs182003715	0.00001
NM_000035.4(ALDOB):c.538C>A (p.Gln180Lys)	rs574635615	0.00001
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter)	rs370793608	0.00001
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg)	rs397514441	0.00001
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg)	rs746206847	0.00001
NM_000046.5(ARSB):c.723G>A (p.Val241=)	rs199858121	0.00001
NM_000048.4(ASL):c.1136G>A (p.Arg379His)	rs200853731	0.00001
NM_000048.4(ASL):c.1154G>A (p.Arg385His)	rs746120802	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.376C>T (p.Arg126Trp)	rs201962738	0.00001
NM_000048.4(ASL):c.377G>A (p.Arg126Gln)	rs777235530	0.00001
NM_000048.4(ASL):c.467C>T (p.Pro156Leu)	rs769017508	0.00001
NM_000048.4(ASL):c.507G>C (p.Trp169Cys)	rs759952363	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.707G>A (p.Arg236Gln)	rs764602422	0.00001
NM_000048.4(ASL):c.722A>C (p.Glu241Ala)	rs924321091	0.00001
NM_000049.4(ASPA):c.368G>A (p.Gly123Glu)	rs1057521115	0.00001
NM_000049.4(ASPA):c.448C>T (p.Leu150=)	rs1597432362	0.00001
NM_000049.4(ASPA):c.503G>A (p.Arg168His)	rs770706390	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.1138T>A (p.Tyr380Asn)	rs34083085	0.00001
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)	rs587779815	0.00001
NM_000051.4(ATM):c.1898+3A>G	rs200169643	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.2T>C (p.Met1Thr)	rs786203606	0.00001
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu)	rs149911447	0.00001
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys)	rs201780199	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.3899A>G (p.Tyr1300Cys)	rs183263185	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.5188C>T (p.Arg1730Ter)	rs764389018	0.00001
NM_000051.4(ATM):c.5290del (p.Leu1764fs)	rs587779846	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.6096-3T>C	rs748380897	0.00001
NM_000051.4(ATM):c.6277C>T (p.Pro2093Ser)	rs946942912	0.00001
NM_000051.4(ATM):c.6452+5T>A	rs533830556	0.00001
NM_000051.4(ATM):c.6997dup	rs587781299	0.00001
NM_000051.4(ATM):c.7308-10T>G	rs745319720	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.8105T>G (p.Ile2702Arg)	rs876659735	0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)	rs371638537	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.8494C>T (p.Arg2832Cys)	rs587779872	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.9023G>A (p.Arg3008His)	rs587781894	0.00001
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys)	rs782006661	0.00001
NM_000053.4(ATP7B):c.1326G>T (p.Gly442=)	rs1371066375	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.1830G>A (p.Pro610=)	rs375689672	0.00001
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp)	rs374172791	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.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.2549C>T (p.Thr850Ile)	rs777629392	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.2712A>G (p.Glu904=)	rs146232015	0.00001
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser)	rs28942076	0.00001
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu)	rs201038679	0.00001
NM_000053.4(ATP7B):c.3060+5G>T	rs1353373400	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.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.3551T>C (p.Ile1184Thr)	rs755817220	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.4022G>A (p.Gly1341Asp)	rs779494870	0.00001
NM_000053.4(ATP7B):c.51+4A>T	rs369488210	0.00001
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter)	rs1057516964	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.1825C>A (p.Pro609Thr)	rs770255643	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.204C>T (p.Thr68=)	rs199927688	0.00001
NM_000057.4(BLM):c.2169A>G (p.Gln723=)	rs781635047	0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)	rs786204471	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.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.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.437A>T (p.Asp146Val)	rs902876126	0.00001
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)	rs749099493	0.00001
NM_000070.3(CAPN3):c.1194-9A>G	rs374665929	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.1381C>T (p.Arg461Cys)	rs1274808359	0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)	rs142004418	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.1715G>A (p.Arg572Gln)	rs121434544	0.00001
NM_000070.3(CAPN3):c.2259C>T (p.Asp753=)	rs755010088	0.00001
NM_000070.3(CAPN3):c.2288A>G (p.Tyr763Cys)	rs764459544	0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)	rs778768583	0.00001
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala)	rs587780291	0.00001
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys)	rs773001194	0.00001
NM_000071.3(CBS):c.1007G>A (p.Arg336His)	rs760417941	0.00001
NM_000071.3(CBS):c.1551G>A (p.Gln517=)	rs750311684	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.828+1G>A	rs763290176	0.00001
NM_000071.3(CBS):c.982G>A (p.Asp328Asn)	rs758447354	0.00001
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg)	rs267606745	0.00001
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser)	rs778886174	0.00001
NM_000091.5(COL4A3):c.4348C>T (p.Arg1450Ter)	rs1189607438	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.2852G>A (p.Arg951His)	rs540205999	0.00001
NM_000094.4(COL7A1):c.2968C>T (p.Arg990Trp)	rs763751979	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.5559C>T (p.Asp1853=)	rs776433840	0.00001
NM_000094.4(COL7A1):c.5661G>C (p.Gly1887=)	rs371009419	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.8234G>A (p.Arg2745Gln)	rs377182638	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.1233G>A (p.Thr411=)	rs112914907	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.1665C>G (p.His555Gln)	rs1557719450	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_000102.4(CYP17A1):c.1085G>A (p.Arg362His)	rs752811843	0.00001
NM_000103.4(CYP19A1):c.501C>A (p.Ser167=)	rs35900050	0.00001
NM_000108.5(DLD):c.1266A>G (p.Pro422=)	rs766756785	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.375G>A (p.Glu125=)	rs559057715	0.00001
NM_000112.4(SLC26A2):c.145del (p.Arg49fs)	rs1265764649	0.00001
NM_000126.4(ETFA):c.321C>T (p.His107=)	rs368550471	0.00001
NM_000126.4(ETFA):c.759T>C (p.Asp253=)	rs142970498	0.00001
NM_000128.4(F11):c.166T>C (p.Cys56Arg)	rs121965069	0.00001
NM_000133.4(F9):c.60A>G (p.Leu20=)	rs762082146	0.00001
NM_000135.4(FANCA):c.1007-7C>G	rs111271660	0.00001
NM_000135.4(FANCA):c.1078C>T (p.Arg360Cys)	rs375895456	0.00001
NM_000135.4(FANCA):c.1226-2A>G	rs773906241	0.00001
NM_000135.4(FANCA):c.1500C>T (p.Pro500=)	rs139276494	0.00001
NM_000135.4(FANCA):c.1632C>A (p.His544Gln)	rs553129361	0.00001
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=)	rs529199293	0.00001
NM_000135.4(FANCA):c.1803G>A (p.Val601=)	rs757053400	0.00001
NM_000135.4(FANCA):c.1889A>T (p.Glu630Val)	rs199599499	0.00001
NM_000135.4(FANCA):c.1990A>G (p.Met664Val)	rs748579719	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.2394C>T (p.Leu798=)	rs765883419	0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter)	rs752160950	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.3193G>A (p.Val1065Met)	rs140124051	0.00001
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=)	rs753864057	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.3550C>T (p.Arg1184Trp)	rs201492940	0.00001
NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly)	rs748713183	0.00001
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs)	rs1374769712	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.4198C>T (p.Arg1400Cys)	rs745882980	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.709+5G>A	rs759877008	0.00001
NM_000135.4(FANCA):c.913C>T (p.His305Tyr)	rs774054025	0.00001
NM_000136.3(FANCC):c.1048A>G (p.Met350Val)	rs863224607	0.00001
NM_000136.3(FANCC):c.1281C>T (p.Ala427=)	rs754604606	0.00001
NM_000136.3(FANCC):c.996+1G>T	rs370510954	0.00001
NM_000137.4(FAH):c.1025C>T (p.Pro342Leu)	rs779040832	0.00001
NM_000137.4(FAH):c.192G>T (p.Gln64His)	rs80338894	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.81+2T>A	rs772895065	0.00001
NM_000137.4(FAH):c.836A>G (p.Gln279Arg)	rs121965078	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.340+7G>A	rs570199529	0.00001
NM_000151.4(G6PC1):c.615C>T (p.Ser205=)	rs374522795	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.879A>G (p.Pro293=)	rs529957748	0.00001
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys)	rs104894563	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.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.1447G>A (p.Gly483Arg)	rs770590394	0.00001
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser)	rs773576381	0.00001
NM_000152.5(GAA):c.172C>T (p.Gln58Ter)	rs201185475	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.1827C>T (p.Tyr609=)	rs745754277	0.00001
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg)	rs549029029	0.00001
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)	rs753269119	0.00001
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)	rs536906561	0.00001
NM_000152.5(GAA):c.2040+1G>T	rs1057516928	0.00001
NM_000152.5(GAA):c.2641A>G (p.Arg881Gly)	rs769578772	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.670C>T (p.Arg224Trp)	rs757700700	0.00001
NM_000152.5(GAA):c.671G>A (p.Arg224Gln)	rs200210219	0.00001
NM_000152.5(GAA):c.701C>T (p.Thr234Met)	rs752054011	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.1541T>C (p.Phe514Ser)	rs375867319	0.00001
NM_000153.4(GALC):c.1572C>T (p.Gly524=)	rs753164684	0.00001
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg)	rs748573754	0.00001
NM_000153.4(GALC):c.1752A>G (p.Lys584=)	rs201016488	0.00001
NM_000153.4(GALC):c.1858G>A (p.Gly620Arg)	rs779864190	0.00001
NM_000153.4(GALC):c.1898C>T (p.Thr633Met)	rs766762599	0.00001
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro)	rs1249991480	0.00001
NM_000153.4(GALC):c.205C>T (p.Arg69Ter)	rs771111145	0.00001
NM_000153.4(GALC):c.331G>A (p.Gly111Ser)	rs756690487	0.00001
NM_000153.4(GALC):c.583-6T>A	rs398123176	0.00001
NM_000153.4(GALC):c.749T>C (p.Ile250Thr)	rs886039569	0.00001
NM_000153.4(GALC):c.81C>T (p.Ala27=)	rs759433028	0.00001
NM_000153.4(GALC):c.908C>T (p.Ser303Phe)	rs756352952	0.00001
NM_000156.6(GAMT):c.182G>A (p.Gly61Glu)	rs77168423	0.00001
NM_000156.6(GAMT):c.224C>T (p.Ala75Val)	rs1441030187	0.00001
NM_000156.6(GAMT):c.407C>T (p.Thr136Met)	rs374724533	0.00001
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln)	rs79653797	0.00001
NM_000158.4(GBE1):c.1064G>A (p.Arg355His)	rs869312919	0.00001
NM_000158.4(GBE1):c.1239del (p.Asp413fs)	rs758504480	0.00001
NM_000158.4(GBE1):c.1335+9C>G	rs754084067	0.00001
NM_000158.4(GBE1):c.1655C>T (p.Pro552Leu)	rs777589783	0.00001
NM_000158.4(GBE1):c.1803+2T>C	rs539203557	0.00001
NM_000158.4(GBE1):c.2016G>A (p.Glu672=)	rs571448518	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.1199dup (p.Ile401fs)	rs1970722328	0.00001
NM_000159.4(GCDH):c.1213dup (p.Met405fs)	rs1377352983	0.00001
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met)	rs745360675	0.00001
NM_000159.4(GCDH):c.148T>G (p.Trp50Gly)	rs758646992	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.482G>A (p.Arg161Gln)	rs777201305	0.00001
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg)	rs749452002	0.00001
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu)	rs1449724176	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_000166.6(GJB1):c.14G>T (p.Gly5Val)	rs1064793139	0.00001
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)	rs869312162	0.00001
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala)	rs397515869	0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser)	rs782449839	0.00001
NM_000169.3(GLA):c.596T>C (p.Val199Ala)	rs781871113	0.00001
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg)	rs1406713104	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.128del (p.Asp43fs)	rs1251443902	0.00001
NM_000170.3(GLDC):c.1367G>A (p.Arg456Gln)	rs767652664	0.00001
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln)	rs386833524	0.00001
NM_000170.3(GLDC):c.1734C>T (p.Asn578=)	rs1034614089	0.00001
NM_000170.3(GLDC):c.2186del (p.Ala729fs)	rs386833543	0.00001
NM_000170.3(GLDC):c.2196T>A (p.Asn732Lys)	rs386833544	0.00001
NM_000170.3(GLDC):c.2498C>T (p.Ala833Val)	rs1275684568	0.00001
NM_000170.3(GLDC):c.2919+1G>A	rs386833575	0.00001
NM_000170.3(GLDC):c.3002C>A (p.Thr1001Asn)	rs555776146	0.00001
NM_000170.3(GLDC):c.63C>A (p.Arg21=)	rs372141443	0.00001
NM_000170.3(GLDC):c.668C>G (p.Pro223Arg)	rs201049516	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_000191.3(HMGCL):c.501C>T (p.Tyr167=)	rs200189529	0.00001
NM_000191.3(HMGCL):c.624G>A (p.Val208=)	rs747724373	0.00001
NM_000198.4(HSD3B2):c.308-9C>T	rs375047799	0.00001
NM_000199.5(SGSH):c.1035C>T (p.Gly345=)	rs748069998	0.00001
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser)	rs1555620214	0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)	rs104894641	0.00001
NM_000199.5(SGSH):c.1455C>T (p.Gly485=)	rs757563981	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.449G>A (p.Arg150Gln)	rs104894638	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.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.93T>C (p.Asp31=)	rs982161788	0.00001
NM_000203.5(IDUA):c.1186C>T (p.Leu396=)	rs1011474273	0.00001
NM_000203.5(IDUA):c.1398C>T (p.Gly466=)	rs1370338557	0.00001
NM_000203.5(IDUA):c.1403-11A>G	rs1335436961	0.00001
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg)	rs772416503	0.00001
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)	rs754966840	0.00001
NM_000203.5(IDUA):c.357C>T (p.Asp119=)	rs1262464994	0.00001
NM_000203.5(IDUA):c.972+8G>A	rs774327124	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.267A>G (p.Pro89=)	rs149595403	0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)	rs547818652	0.00001
NM_000232.5(SGCB):c.1A>G (p.Met1Val)	rs398123262	0.00001
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro)	rs751427686	0.00001
NM_000232.5(SGCB):c.622-2A>G	rs780596734	0.00001
NM_000235.4(LIPA):c.1070T>C (p.Leu357Pro)	rs772684869	0.00001
NM_000235.4(LIPA):c.260G>T (p.Gly87Val)	rs587778878	0.00001
NM_000235.4(LIPA):c.318C>T (p.Phe106=)	rs1438679981	0.00001
NM_000235.4(LIPA):c.599T>C (p.Leu200Pro)	rs121965086	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_000243.3(MEFV):c.801A>G (p.Thr267=)	rs141455838	0.00001
NM_000246.4(CIITA):c.1149C>T (p.Ala383=)	rs748867171	0.00001
NM_000246.4(CIITA):c.200-9T>C	rs778238111	0.00001
NM_000246.4(CIITA):c.2256G>A (p.Glu752=)	rs200577013	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.436+9del	rs1567398077	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.783C>T (p.Leu261=)	rs187394611	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.322C>T (p.Arg108Cys)	rs121918257	0.00001
NM_000255.4(MMUT):c.422C>T (p.Ala141Val)	rs565348836	0.00001
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile)	rs547709692	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.487G>A (p.Gly163Arg)	rs1472566324	0.00001
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg)	rs111033283	0.00001
NM_000260.4(MYO7A):c.759C>T (p.His253=)	rs182220009	0.00001
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg)	rs768814260	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.384-1G>A	rs764134891	0.00001
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu)	rs1555637232	0.00001
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys)	rs1053321823	0.00001
NM_000271.5(NPC1):c.1371T>C (p.Tyr457=)	rs779065920	0.00001
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr)	rs1555636659	0.00001
NM_000271.5(NPC1):c.1990G>A (p.Val664Met)	rs376213990	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.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.2972_2973del (p.Gln991fs)	rs756815030	0.00001
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val)	rs28942107	0.00001
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met)	rs28942104	0.00001
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met)	rs748862167	0.00001
NM_000271.5(NPC1):c.3591+1G>A	rs786200877	0.00001
NM_000271.5(NPC1):c.410C>T (p.Thr137Met)	rs372947142	0.00001
NM_000274.4(OAT):c.416T>G (p.Met139Arg)	rs1043163922	0.00001
NM_000274.4(OAT):c.606G>A (p.Pro202=)	rs369806549	0.00001
NM_000274.4(OAT):c.722C>T (p.Pro241Leu)	rs121965051	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.1184C>G (p.Ala395Gly)	rs62508736	0.00001
NM_000277.3(PAH):c.169-13T>G	rs62507341	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.320A>G (p.His107Arg)	rs542645236	0.00001
NM_000277.3(PAH):c.442G>A (p.Gly148Ser)	rs80297647	0.00001
NM_000277.3(PAH):c.511G>A (p.Gly171Arg)	rs199475613	0.00001
NM_000277.3(PAH):c.561G>A (p.Trp187Ter)	rs62507336	0.00001
NM_000277.3(PAH):c.612T>C (p.Tyr204=)	rs62514928	0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)	rs62508588	0.00001
NM_000277.3(PAH):c.755G>A (p.Arg252Gln)	rs62644503	0.00001
NM_000277.3(PAH):c.811C>T (p.His271Tyr)	rs62517164	0.00001
NM_000277.3(PAH):c.889C>T (p.Arg297Cys)	rs62642945	0.00001
NM_000277.3(PAH):c.913-7A>G	rs62517165	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.968_970del (p.Thr323del)	rs199475618	0.00001
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter)	rs768703749	0.00001
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del)	rs937519016	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.231+1G>C	rs972937270	0.00001
NM_000282.4(PCCA):c.54G>A (p.Gly18=)	rs1373903905	0.00001
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys)	rs778530330	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_000289.6(PFKM):c.1005A>G (p.Val335=)	rs1454843075	0.00001
NM_000289.6(PFKM):c.1500+1G>A	rs770066278	0.00001
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg)	rs755402538	0.00001
NM_000303.3(PMM2):c.52A>C (p.Thr18Pro)	rs757040733	0.00001
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser)	rs949271895	0.00001
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser)	rs532870929	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.97C>T (p.Gln33Ter)	rs149530060	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_000317.3(PTS):c.155A>G (p.Asn52Ser)	rs104894275	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.95G>A (p.Ser32Asn)	rs374871539	0.00001
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)	rs61752909	0.00001
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)	rs61752883	0.00001
NM_000349.3(STAR):c.229C>T (p.Gln77Ter)	rs781281145	0.00001
NM_000349.3(STAR):c.779T>C (p.Leu260Pro)	rs551783234	0.00001
NM_000352.6(ABCC8):c.1095C>T (p.Ala365=)	rs1256418853	0.00001
NM_000352.6(ABCC8):c.1512C>T (p.Arg504=)	rs148811815	0.00001
NM_000352.6(ABCC8):c.2209G>A (p.Val737Ile)	rs376206979	0.00001
NM_000352.6(ABCC8):c.2391-5G>A	rs370096884	0.00001
NM_000352.6(ABCC8):c.2391-6C>T	rs556416038	0.00001
NM_000352.6(ABCC8):c.255G>A (p.Leu85=)	rs1323334420	0.00001
NM_000352.6(ABCC8):c.279C>A (p.Ile93=)	rs550990673	0.00001
NM_000352.6(ABCC8):c.3393C>T (p.Ile1131=)	rs776975807	0.00001
NM_000352.6(ABCC8):c.3654T>C (p.Tyr1218=)	rs769968875	0.00001
NM_000352.6(ABCC8):c.4119+10C>T	rs201955628	0.00001
NM_000352.6(ABCC8):c.4296C>T (p.Ser1432=)	rs752222583	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_000359.3(TGM1):c.1186C>T (p.Arg396Cys)	rs543521135	0.00001
NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter)	rs397514522	0.00001
NM_000359.3(TGM1):c.379C>T (p.Arg127Ter)	rs886041250	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.579G>A (p.Trp193Ter)	rs199678720	0.00001
NM_000359.3(TGM1):c.790C>T (p.Arg264Trp)	rs201868387	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.1233C>T (p.Ala411=)	rs768695630	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.474C>T (p.Pro158=)	rs531554933	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.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.977+9G>C	rs752199740	0.00001
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser)	rs72547575	0.00001
NM_000382.3(ALDH3A2):c.798+1_798+6del	rs1057517352	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.1338T>C (p.Cys446=)	rs979048802	0.00001
NM_000383.4(AIRE):c.463+2T>C	rs786204478	0.00001
NM_000383.4(AIRE):c.534G>A (p.Gly178=)	rs1160671214	0.00001
NM_000383.4(AIRE):c.62C>T (p.Ala21Val)	rs179363886	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_000391.4(TPP1):c.1435C>G (p.Pro479Ala)	rs756530648	0.00001
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter)	rs1184563885	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.280+2T>C	rs770772281	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.1336C>T (p.Gln446Ter)	rs397516416	0.00001
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter)	rs752807925	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.1324C>T (p.Pro442Ser)	rs560969584	0.00001
NM_000466.3(PEX1):c.1767A>T (p.Gly589=)	rs1364124177	0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)	rs121434455	0.00001
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp)	rs866184460	0.00001
NM_000466.3(PEX1):c.3166T>C (p.Leu1056=)	rs1009877821	0.00001
NM_000466.3(PEX1):c.3195G>A (p.Ser1065=)	rs768417678	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.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.1171C>T (p.Arg391Cys)	rs371243939	0.00001
NM_000478.6(ALPL):c.119C>T (p.Ala40Val)	rs770093969	0.00001
NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg)	rs1413274209	0.00001
NM_000478.6(ALPL):c.283G>A (p.Val95Met)	rs139811782	0.00001
NM_000478.6(ALPL):c.535G>A (p.Ala179Thr)	rs121918000	0.00001
NM_000478.6(ALPL):c.668G>A (p.Arg223Gln)	rs199665722	0.00001
NM_000478.6(ALPL):c.809G>A (p.Trp270Ter)	rs786204634	0.00001
NM_000478.6(ALPL):c.98C>T (p.Ala33Val)	rs121918005	0.00001
NM_000478.6(ALPL):c.997+2T>A	rs1057517391	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.664C>T (p.Arg222Cys)	rs781466698	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.195del (p.Phe64_Tyr65insTer)	rs398123414	0.00001
NM_000487.6(ARSA):c.279C>T (p.Val93=)	rs756760904	0.00001
NM_000487.6(ARSA):c.558C>T (p.Asn186=)	rs574416131	0.00001
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys)	rs74315470	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.883G>A (p.Gly295Ser)	rs199476349	0.00001
NM_000489.6(ATRX):c.1346C>G (p.Pro449Arg)	rs782163488	0.00001
NM_000489.6(ATRX):c.1366G>A (p.Asp456Asn)	rs782313786	0.00001
NM_000489.6(ATRX):c.1526C>G (p.Thr509Ser)	rs1557141410	0.00001
NM_000489.6(ATRX):c.16A>G (p.Met6Val)	rs782080475	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.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.3555G>C (p.Lys1185Asn)	rs782696086	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.4201C>T (p.Arg1401Trp)	rs1557119999	0.00001
NM_000489.6(ATRX):c.5559C>T (p.His1853=)	rs1557096973	0.00001
NM_000489.6(ATRX):c.5935G>C (p.Val1979Leu)	rs782773652	0.00001
NM_000489.6(ATRX):c.631C>T (p.Arg211Cys)	rs782241890	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_000492.4(CFTR):c.1209+7A>T	rs767301152	0.00001
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe)	rs121909017	0.00001
NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr)	rs397508222	0.00001
NM_000492.4(CFTR):c.1545T>C (p.Tyr515=)	rs747504631	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.1647T>G (p.Ser549Arg)	rs121909005	0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr)	rs773569201	0.00001
NM_000492.4(CFTR):c.2505T>C (p.Asp835=)	rs761043298	0.00001
NM_000492.4(CFTR):c.2835G>A (p.Ser945=)	rs193922513	0.00001
NM_000492.4(CFTR):c.3083T>G (p.Met1028Arg)	rs397508494	0.00001
NM_000492.4(CFTR):c.3717G>A (p.Arg1239=)	rs144781064	0.00001
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu)	rs267606723	0.00001
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn)	rs74503330	0.00001
NM_000492.4(CFTR):c.3759G>A (p.Leu1253=)	rs117400534	0.00001
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)	rs397508609	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.4364C>G (p.Ser1455Ter)	rs121909043	0.00001
NM_000492.4(CFTR):c.4367G>A (p.Ser1456Asn)	rs983279303	0.00001
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr)	rs397508804	0.00001
NM_000492.4(CFTR):c.869+5G>A	rs533959068	0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)	rs75763344	0.00001
NM_000492.4(CFTR):c.94C>A (p.Leu32Met)	rs776797377	0.00001
NM_000498.3(CYP11B2):c.1341G>A (p.Met447Ile)	rs544454389	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.30C>T (p.Cys10=)	rs752745892	0.00001
NM_000498.3(CYP11B2):c.541C>T (p.Arg181Trp)	rs28931609	0.00001
NM_000498.3(CYP11B2):c.84C>T (p.Ala28=)	rs745626507	0.00001
NM_000517.6(HBA2):c.414C>T (p.Thr138=)	rs371394396	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_000518.5(HBB):c.217dup (p.Ser73fs)	rs33969853	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.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.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.508C>T (p.Arg170Trp)	rs121907972	0.00001
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln)	rs121907957	0.00001
NM_000520.6(HEXA):c.536A>G (p.His179Arg)	rs747372270	0.00001
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)	rs566580738	0.00001
NM_000520.6(HEXA):c.772G>C (p.Asp258His)	rs121907971	0.00001
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)	rs121907983	0.00001
NM_000521.4(HEXB):c.1614-16_1622dup	rs756912360	0.00001
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro)	rs938611392	0.00001
NM_000527.5(LDLR):c.1061-1G>C	rs879254774	0.00001
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro)	rs730882098	0.00001
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr)	rs730882099	0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)	rs368562025	0.00001
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn)	rs730882101	0.00001
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val)	rs755667663	0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)	rs758194385	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.2097G>A (p.Pro699=)	rs370835628	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.2529C>T (p.Asp843=)	rs374635484	0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)	rs769383881	0.00001
NM_000527.5(LDLR):c.398A>C (p.Asp133Ala)	rs1317204420	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.632A>T (p.His211Leu)	rs879254603	0.00001
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys)	rs776421777	0.00001
NM_000527.5(LDLR):c.981C>T (p.His327=)	rs1060499933	0.00001
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter)	rs1057516927	0.00001
NM_000528.4(MAN2B1):c.1893G>T (p.Gln631His)	rs775247526	0.00001
NM_000528.4(MAN2B1):c.2437-5C>G	rs200695002	0.00001
NM_000528.4(MAN2B1):c.2622T>C (p.Gly874=)	rs545541738	0.00001
NM_000528.4(MAN2B1):c.2856G>A (p.Gln952=)	rs1318861970	0.00001
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu)	rs746808159	0.00001
NM_000528.4(MAN2B1):c.81C>T (p.Ala27=)	rs1407475487	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.1301C>T (p.Ala434Val)	rs751538672	0.00001
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser)	rs1349202366	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.942C>A (p.Tyr314Ter)	rs572246667	0.00001
NM_000536.4(RAG2):c.1074G>A (p.Glu358=)	rs557047531	0.00001
NM_000536.4(RAG2):c.63G>A (p.Leu21=)	rs142797325	0.00001
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg)	rs794727629	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.1805G>A (p.Arg602His)	rs370129081	0.00001
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys)	rs989639224	0.00001
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg)	rs750779804	0.00001
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu)	rs556155962	0.00001
NM_000642.3(AGL):c.100C>T (p.Arg34Ter)	rs781580050	0.00001
NM_000642.3(AGL):c.1432G>A (p.Val478Ile)	rs527819721	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.22C>T (p.Arg8Ter)	rs1057516870	0.00001
NM_000642.3(AGL):c.22del (p.Arg8fs)	rs1215043175	0.00001
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)	rs531425980	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_000709.4(BCKDHA):c.1234G>A (p.Val412Met)	rs398123490	0.00001
NM_000709.4(BCKDHA):c.435C>T (p.Ala145=)	rs369278165	0.00001
NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr)	rs199599175	0.00001
NM_000709.4(BCKDHA):c.854-2A>G	rs760494152	0.00001
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg)	rs137852871	0.00001
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys)	rs398123515	0.00001
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)	rs573951598	0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)	rs121908099	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.409C>T (p.Arg137Trp)	rs72551312	0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)	rs587778796	0.00001
NM_000784.4(CYP27A1):c.446+1G>A	rs587778797	0.00001
NM_000784.4(CYP27A1):c.527A>G (p.Asp176Gly)	rs748325824	0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)	rs201346271	0.00001
NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter)	rs72551315	0.00001
NM_001017420.3(ESCO2):c.867A>G (p.Ser289=)	rs535236969	0.00001
NM_001033855.3(DCLRE1C):c.1587A>C (p.Ser529=)	rs529177486	0.00001
NM_001042432.2(CLN3):c.461-1G>T	rs386833722	0.00001
NM_001079866.2(BCS1L):c.258T>C (p.His86=)	rs886055627	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_001122769.3(LCA5):c.1756A>T (p.Lys586Ter)	rs772573829	0.00001
NM_001126108.2(SLC12A3):c.1046C>T (p.Pro349Leu)	rs121909383	0.00001
NM_001126108.2(SLC12A3):c.1456G>A (p.Asp486Asn)	rs753523115	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.2546T>A (p.Leu849His)	rs185927948	0.00001
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln)	rs369360334	0.00001
NM_001126108.2(SLC12A3):c.741+1G>A	rs1187506921	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.1693-6T>A	rs886039573	0.00001
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp)	rs377735262	0.00001
NM_001130987.2(DYSF):c.1905C>T (p.Ile635=)	rs567956595	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.5419C>T (p.Arg1807Trp)	rs746243052	0.00001
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)	rs398123802	0.00001
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter)	rs1471994744	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.5262G>A (p.Pro1754=)	rs779784002	0.00001
NM_001142800.2(EYS):c.5329T>C (p.Leu1777=)	rs1042931370	0.00001
NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu)	rs559078881	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.7803T>C (p.Asn2601=)	rs1342639553	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.9061G>C (p.Ala3021Pro)	rs569561277	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.448G>A (p.Gly150Arg)	rs193302883	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.83G>A (p.Arg28His)	rs121908978	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.10922C>T (p.Pro3641Leu)	rs377027708	0.00001
NM_001164508.2(NEB):c.10940T>C (p.Val3647Ala)	rs1316575607	0.00001
NM_001164508.2(NEB):c.11133T>C (p.Asp3711=)	rs547109690	0.00001
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter)	rs928945364	0.00001
NM_001164508.2(NEB):c.11798T>C (p.Met3933Thr)	rs772235127	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.12640-10C>T	rs1264692800	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.1621C>G (p.Pro541Ala)	rs1324280943	0.00001
NM_001164508.2(NEB):c.17243G>A (p.Arg5748Gln)	rs773983252	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.18083T>C (p.Leu6028Ser)	rs1221212842	0.00001
NM_001164508.2(NEB):c.18144C>T (p.Asp6048=)	rs1319860549	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.18763G>A (p.Val6255Met)	rs781706876	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.19242C>T (p.Ala6414=)	rs773178453	0.00001
NM_001164508.2(NEB):c.19426G>A (p.Asp6476Asn)	rs752626000	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.20033G>A (p.Arg6678His)	rs1487589344	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.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.21042G>A (p.Arg7014=)	rs778067687	0.00001
NM_001164508.2(NEB):c.21051T>C (p.Pro7017=)	rs767655200	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.22022C>T (p.Ala7341Val)	rs550296441	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.22489C>T (p.Arg7497Ter)	rs760935667	0.00001
NM_001164508.2(NEB):c.22504A>G (p.Lys7502Glu)	rs376495046	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.22986T>C (p.His7662=)	rs149606244	0.00001
NM_001164508.2(NEB):c.23054G>A (p.Gly7685Glu)	rs768880396	0.00001
NM_001164508.2(NEB):c.23127+2T>C	rs112610938	0.00001
NM_001164508.2(NEB):c.23893G>C (p.Glu7965Gln)	rs767969927	0.00001
NM_001164508.2(NEB):c.23986G>A (p.Glu7996Lys)	rs1202510810	0.00001
NM_001164508.2(NEB):c.24020C>T (p.Ser8007Leu)	rs763365852	0.00001
NM_001164508.2(NEB):c.24021+8G>A	rs1361035933	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.25089G>A (p.Ser8363=)	rs766453942	0.00001
NM_001164508.2(NEB):c.25107A>G (p.Pro8369=)	rs763433145	0.00001
NM_001164508.2(NEB):c.25259C>T (p.Ser8420Leu)	rs949111967	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.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.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.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.413G>A (p.Arg138Gln)	rs747423578	0.00001
NM_001164508.2(NEB):c.4151C>G (p.Pro1384Arg)	rs762809955	0.00001
NM_001164508.2(NEB):c.4166G>A (p.Ser1389Asn)	rs534646949	0.00001
NM_001164508.2(NEB):c.4413G>A (p.Lys1471=)	rs755877926	0.00001
NM_001164508.2(NEB):c.4789C>T (p.Pro1597Ser)	rs772492791	0.00001
NM_001164508.2(NEB):c.5091G>C (p.Glu1697Asp)	rs1349969572	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.5801G>A (p.Gly1934Asp)	rs763717355	0.00001
NM_001164508.2(NEB):c.5853C>A (p.Ala1951=)	rs757546480	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.6262G>A (p.Val2088Ile)	rs747729019	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.6815A>G (p.Tyr2272Cys)	rs762107662	0.00001
NM_001164508.2(NEB):c.6868G>A (p.Ala2290Thr)	rs777601721	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.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.8020G>A (p.Glu2674Lys)	rs369224273	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.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_001243279.3(ACSF3):c.1127-7C>G	rs761564953	0.00001
NM_001243279.3(ACSF3):c.1580C>G (p.Ser527Ter)	rs1457774840	0.00001
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)	rs28934602	0.00001
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=)	rs148814769	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.1219A>T (p.Asn407Tyr)	rs770819693	0.00001
NM_001360.3(DHCR7):c.1409T>A (p.Leu470Gln)	rs1331331095	0.00001
NM_001360.3(DHCR7):c.225C>T (p.Ile75=)	rs755182484	0.00001
NM_001360.3(DHCR7):c.226G>A (p.Val76Ile)	rs368473756	0.00001
NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter)	rs104886039	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.655T>G (p.Tyr219Asp)	rs779896782	0.00001
NM_001360.3(DHCR7):c.670G>A (p.Glu224Lys)	rs373121544	0.00001
NM_001360.3(DHCR7):c.756C>T (p.Asn252=)	rs774666247	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.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.12880A>G (p.Thr4294Ala)	rs765649176	0.00001
NM_001369.3(DNAH5):c.13077G>A (p.Leu4359=)	rs148805204	0.00001
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter)	rs758112779	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.257A>G (p.Asp86Gly)	rs147441805	0.00001
NM_001369.3(DNAH5):c.3013A>T (p.Asn1005Tyr)	rs770975422	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.4054-4T>C	rs200608915	0.00001
NM_001369.3(DNAH5):c.4269A>G (p.Ile1423Met)	rs779020258	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.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.5983C>T (p.Arg1995Ter)	rs773711154	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.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.7915C>T (p.Arg2639Ter)	rs375053470	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.9213C>T (p.His3071=)	rs563907105	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.9897+9A>G	rs774932799	0.00001
NM_001370658.1(BTD):c.-17+2T>C	rs745648160	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.176G>A (p.Arg59His)	rs397514343	0.00001
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)	rs375712490	0.00001
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu)	rs397514359	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.649G>A (p.Ala217Thr)	rs397514381	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.10822C>T (p.Arg3608Ter)	rs1192396248	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.1732del (p.Arg578fs)	rs777476179	0.00001
NM_001378454.1(ALMS1):c.2184A>G (p.Gln728=)	rs572605877	0.00001
NM_001378454.1(ALMS1):c.3246A>G (p.Pro1082=)	rs532389598	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.646+8C>G	rs760012033	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.9538C>G (p.Arg3180Gly)	rs563393715	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.3717+2dup	rs1248401224	0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)	rs137853001	0.00001
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter)	rs961865375	0.00001
NM_001399.5(EDA):c.249C>G (p.Thr83=)	rs769141538	0.00001
NM_001692.4(ATP6V1B1):c.393G>A (p.Lys131=)	rs1332086842	0.00001
NM_001875.5(CPS1):c.1708-5G>A	rs571670790	0.00001
NM_001875.5(CPS1):c.2740G>C (p.Asp914His)	rs765484849	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.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.4274+2T>C	rs1374322297	0.00001
NM_001875.5(CPS1):c.697C>T (p.Arg233Cys)	rs767905306	0.00001
NM_001876.4(CPT1A):c.1393G>A (p.Gly465Arg)	rs80356784	0.00001
NM_001876.4(CPT1A):c.1500G>A (p.Glu500=)	rs760474415	0.00001
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys)	rs773560012	0.00001
NM_002225.5(IVD):c.150T>A (p.Arg50=)	rs762440985	0.00001
NM_002225.5(IVD):c.349C>T (p.Arg117Ter)	rs776015412	0.00001
NM_002225.5(IVD):c.456+2T>C	rs398123683	0.00001
NM_002225.5(IVD):c.784+9C>T	rs1891254953	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.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.399A>G (p.Val133=)	rs560392566	0.00001
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)	rs767215758	0.00001
NM_002485.5(NBN):c.1056A>G (p.Leu352=)	rs369092711	0.00001
NM_002485.5(NBN):c.1397+3C>G	rs876660481	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.897G>A (p.Arg299=)	rs779798363	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.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.2047-6T>C	rs762866535	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.2312G>A (p.Arg771His)	rs780724170	0.00001
NM_002529.4(NTRK1):c.638T>C (p.Leu213Pro)	rs747711259	0.00001
NM_003060.4(SLC22A5):c.113C>A (p.Ser38Tyr)	rs369354736	0.00001
NM_003060.4(SLC22A5):c.1202dup (p.Tyr401Ter)	rs121908887	0.00001
NM_003060.4(SLC22A5):c.1250dup (p.Met417fs)	rs781330134	0.00001
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys)	rs72552734	0.00001
NM_003060.4(SLC22A5):c.1411C>T (p.Arg471Cys)	rs749282641	0.00001
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)	rs727504159	0.00001
NM_003060.4(SLC22A5):c.371A>G (p.Tyr124Cys)	rs762126547	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.632A>G (p.Tyr211Cys)	rs121908888	0.00001
NM_003227.4(TFR2):c.1504G>A (p.Val502Ile)	rs150618729	0.00001
NM_003384.3(VRK1):c.576+9A>G	rs978347799	0.00001
NM_003384.3(VRK1):c.577-4A>G	rs1194395636	0.00001
NM_003640.5(ELP1):c.2598C>T (p.Pro866=)	rs773218149	0.00001
NM_003640.5(ELP1):c.959-8C>T	rs766511916	0.00001
NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr)	rs752043324	0.00001
NM_003907.3(EIF2B5):c.1208C>T (p.Ala403Val)	rs545593935	0.00001
NM_003982.4(SLC7A7):c.1125G>C (p.Val375=)	rs371346432	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.585G>A (p.Leu195=)	rs768649205	0.00001
NM_003982.4(SLC7A7):c.998+9G>C	rs1350841635	0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)	rs104894413	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_004006.3(DMD):c.1712T>C (p.Phe571Ser)	rs1326680081	0.00001
NM_004006.3(DMD):c.5439T>C (p.Asn1813=)	rs1238738620	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.1211T>C (p.Met404Thr)	rs779253471	0.00001
NM_004453.4(ETFDH):c.1668C>T (p.Pro556=)	rs747312700	0.00001
NM_004453.4(ETFDH):c.1758T>C (p.Cys586=)	rs755342205	0.00001
NM_004453.4(ETFDH):c.679C>A (p.Pro227Thr)	rs141407224	0.00001
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)	rs537038850	0.00001
NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg)	rs763541530	0.00001
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro)	rs386833863	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.2596C>T (p.Arg866Ter)	rs386833920	0.00001
NM_004646.4(NPHS1):c.313G>A (p.Asp105Asn)	rs386833932	0.00001
NM_004646.4(NPHS1):c.532C>T (p.Gln178Ter)	rs386833951	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.897T>C (p.Ile299=)	rs199824920	0.00001
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe)	rs372732220	0.00001
NM_005476.7(GNE):c.736C>T (p.Arg246Trp)	rs773729410	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.1215C>T (p.Tyr405=)	rs371264447	0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)	rs119103255	0.00001
NM_005609.4(PYGM):c.1827G>A (p.Lys609=)	rs119103259	0.00001
NM_005609.4(PYGM):c.580C>T (p.Arg194Trp)	rs376581557	0.00001
NM_005609.4(PYGM):c.78_79del (p.Glu27fs)	rs755117847	0.00001
NM_005957.5(MTHFR):c.1002G>A (p.Lys334=)	rs147727428	0.00001
NM_005957.5(MTHFR):c.1263G>C (p.Trp421Cys)	rs200688214	0.00001
NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly)	rs763539350	0.00001
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln)	rs574132670	0.00001
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser)	rs200851583	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.36C>G (p.Gly12=)	rs201477841	0.00001
NM_006432.5(NPC2):c.190+5G>A	rs80358268	0.00001
NM_006432.5(NPC2):c.414C>A (p.Leu138=)	rs1323196897	0.00001
NM_006493.4(CLN5):c.188G>A (p.Arg63His)	rs104894386	0.00001
NM_006493.4(CLN5):c.935T>C (p.Phe312Ser)	rs201767993	0.00001
NM_006623.4(PHGDH):c.129G>A (p.Ala43=)	rs587623477	0.00001
NM_007259.5(VPS45):c.201G>A (p.Lys67=)	rs782546296	0.00001
NM_012144.4(DNAI1):c.1395C>T (p.Leu465=)	rs764446899	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.902-8T>C	rs755259202	0.00001
NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter)	rs180177304	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.494G>A (p.Gly165Asp)	rs180177314	0.00001
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys)	rs180177322	0.00001
NM_012243.3(SLC35A3):c.606A>G (p.Gln202=)	rs370227291	0.00001
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)	rs769235753	0.00001
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)	rs1234745577	0.00001
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro)	rs587779410	0.00001
NM_013339.4(ALG6):c.1341C>T (p.Val447=)	rs777326636	0.00001
NM_014049.5(ACAD9):c.1062C>T (p.Tyr354=)	rs886057957	0.00001
NM_014049.5(ACAD9):c.1240C>T (p.Arg414Cys)	rs777282696	0.00001
NM_014049.5(ACAD9):c.1398C>T (p.Thr466=)	rs772732061	0.00001
NM_014049.5(ACAD9):c.1553G>A (p.Arg518His)	rs781149699	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.1360C>T (p.Leu454=)	rs753714268	0.00001
NM_014140.4(SMARCAL1):c.1374C>T (p.Asp458=)	rs200566186	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.661C>G (p.Leu221Val)	rs756807336	0.00001
NM_014244.5(ADAMTS2):c.996C>T (p.Ile332=)	rs767485549	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_014297.5(ETHE1):c.-47C>T	rs368890798	0.00001
NM_014297.5(ETHE1):c.489G>A (p.Arg163=)	rs533076307	0.00001
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)	rs780247476	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.8108G>A (p.Arg2703His)	rs750181262	0.00001
NM_014363.6(SACS):c.861C>T (p.Tyr287=)	rs200877272	0.00001
NM_014844.5(TECPR2):c.2700C>T (p.Ser900=)	rs545614481	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.879A>G (p.Ser293=)	rs770891190	0.00001
NM_015166.4(MLC1):c.136del (p.Cys46fs)	rs1057516766	0.00001
NM_015166.4(MLC1):c.882G>A (p.Pro294=)	rs200163312	0.00001
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)	rs538023671	0.00001
NM_015506.3(MMACHC):c.687A>G (p.Gln229=)	rs369621922	0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)	rs118204046	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_016277.5(RAB23):c.93A>G (p.Lys31=)	rs201735614	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_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_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_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.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_022042.4(SLC26A1):c.*874C>T	rs775172497	0.00001
NM_022132.5(MCCC2):c.1488G>C (p.Gln496His)	rs745367639	0.00001
NM_022132.5(MCCC2):c.330C>T (p.Asp110=)	rs201872484	0.00001
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg)	rs119103222	0.00001
NM_022132.5(MCCC2):c.578G>A (p.Arg193His)	rs535519604	0.00001
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter)	rs727504010	0.00001
NM_024301.5(FKRP):c.582G>A (p.Leu194=)	rs771223960	0.00001
NM_024312.5(GNPTAB):c.2665T>C (p.Leu889=)	rs139215843	0.00001
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter)	rs1014835928	0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)	rs200688985	0.00001
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser)	rs786204575	0.00001
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu)	rs771355732	0.00001
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter)	rs758732081	0.00001
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)	rs139430866	0.00001
NM_025215.6(PUS1):c.894C>T (p.Val298=)	rs201908893	0.00001
NM_031885.5(BBS2):c.1134A>G (p.Pro378=)	rs185178790	0.00001
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)	rs778090540	0.00001
NM_031885.5(BBS2):c.327G>A (p.Ser109=)	rs770497817	0.00001
NM_031885.5(BBS2):c.563del (p.Ile188fs)	rs1367927635	0.00001
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp)	rs121908316	0.00001
NM_032520.5(GNPTG):c.233+1G>A	rs376679416	0.00001
NM_033159.4(HYAL1):c.1047G>C (p.Leu349=)	rs782279681	0.00001
NM_033305.3(VPS13A):c.4602T>C (p.Ser1534=)	rs752134753	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.779A>G (p.Gln260Arg)	rs372889859	0.00001
NM_052845.4(MMAB):c.349-10C>T	rs896742047	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.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.1083C>T (p.Leu361=)	rs78564724	0.00001
NM_054012.4(ASS1):c.175-1119G>A	rs1488840592	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.40G>A (p.Gly14Ser)	rs121908636	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.793C>T (p.Arg265Cys)	rs148918985	0.00001
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter)	rs121908645	0.00001
NM_133259.4(LRPPRC):c.3641A>G (p.Gln1214Arg)	rs140482502	0.00001
NM_138413.4(HOGA1):c.294G>A (p.Gln98=)	rs777208958	0.00001
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter)	rs199839578	0.00001
NM_138694.4(PKHD1):c.11630del (p.Leu3877fs)	rs747170980	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.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.2279G>A (p.Arg760His)	rs745770404	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.2811G>A (p.Trp937Ter)	rs1344820986	0.00001
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys)	rs777158800	0.00001
NM_138694.4(PKHD1):c.3462A>G (p.Thr1154=)	rs758231968	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.470G>A (p.Gly157Asp)	rs1278235097	0.00001
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr)	rs794727566	0.00001
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter)	rs774759689	0.00001
NM_138694.4(PKHD1):c.5556T>C (p.His1852=)	rs549418638	0.00001
NM_138694.4(PKHD1):c.5601-8C>T	rs578030952	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.6808+1G>T	rs1217968843	0.00001
NM_138694.4(PKHD1):c.7284C>T (p.Asp2428=)	rs200807210	0.00001
NM_138694.4(PKHD1):c.7482A>T (p.Gly2494=)	rs199996156	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.8068T>C (p.Trp2690Arg)	rs886061616	0.00001
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly)	rs764880309	0.00001
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu)	rs747322128	0.00001
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter)	rs398124500	0.00001
NM_138694.4(PKHD1):c.9152T>C (p.Ile3051Thr)	rs1374086784	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.977G>T (p.Gly326Val)	rs778329699	0.00001
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter)	rs398124503	0.00001
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)	rs121908285	0.00001
NM_152419.3(HGSNAT):c.1464+1G>A	rs398124545	0.00001
NM_152564.5(VPS13B):c.10776G>A (p.Ser3592=)	rs547516730	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.114C>T (p.Ser38=)	rs768496696	0.00001
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs)	rs747217399	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.4336C>T (p.Arg1446Ter)	rs386834086	0.00001
NM_152564.5(VPS13B):c.5221-5T>C	rs761788793	0.00001
NM_152564.5(VPS13B):c.5796T>C (p.Phe1932=)	rs765209957	0.00001
NM_152564.5(VPS13B):c.6947A>G (p.Tyr2316Cys)	rs386834104	0.00001
NM_152564.5(VPS13B):c.7087A>C (p.Lys2363Gln)	rs533701597	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_152618.3(BBS12):c.104C>A (p.Ser35Ter)	rs1381368546	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.865G>C (p.Ala289Pro)	rs121918328	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.919T>C (p.Ser307Pro)	rs121908426	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_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.239T>A (p.Val80Glu)	rs752083773	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.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_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.239-2A>G	rs776886395	0.00001
NM_201548.5(CERKL):c.356G>A (p.Gly119Asp)	rs1003615909	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.1055C>T (p.Thr352Ile)	rs780308389	0.00001
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)	rs768161313	0.00001
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)	rs770329105	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.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.9815C>T (p.Pro3272Leu)	rs764182950	0.00001
NM_213653.4(HJV):c.976C>T (p.Arg326Ter)	rs74315324	0.00001
NR_003051.4(RMRP):n.195G>A	rs761398394	0.00001
NM_000016.5(ACADM):c.-257G>A	rs17848068
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.1046G>T (p.Arg349Leu)	rs760335676
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs)	rs387906297
NM_000016.6(ACADM):c.1114dup (p.Ala372fs)	rs1057516278
NM_000016.6(ACADM):c.118+114A>G	rs875989868
NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter)	rs754833969
NM_000016.6(ACADM):c.217-2A>G	rs1647169738
NM_000016.6(ACADM):c.241G>A (p.Ala81Thr)	rs1448376709
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.387+1del	rs786204424
NM_000016.6(ACADM):c.449_452del (p.Thr150fs)	rs786204642
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.577A>G (p.Thr193Ala)	rs121434279
NM_000016.6(ACADM):c.592G>A (p.Ala198Thr)	rs1647485086
NM_000016.6(ACADM):c.622G>T (p.Asp208Tyr)	rs983879715
NM_000016.6(ACADM):c.755T>G (p.Phe252Cys)	rs780510026
NM_000016.6(ACADM):c.843A>T (p.Arg281Ser)	rs780504551
NM_000016.6(ACADM):c.866T>C (p.Val289Ala)	rs1057520215
NM_000016.6(ACADM):c.946-6T>G	rs765793260
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter)	rs1225471006
NM_000018.4(ACADVL):c.103_112del (p.Pro35fs)	rs1329022268
NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln)	rs118204015
NM_000018.4(ACADVL):c.1269+1G>A	rs773401248
NM_000018.4(ACADVL):c.138+2dup	rs1555527548
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.1678+3_1678+6del	rs759135941
NM_000018.4(ACADVL):c.1730_1733dup (p.Met578fs)	rs2071395559
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer)	rs796051917
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter)	rs1057520507
NM_000018.4(ACADVL):c.343del	rs387906249
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)	rs387906251
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr)	rs140629318
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer)	rs1057516714
NM_000018.4(ACADVL):c.664G>C (p.Gly222Arg)	rs398123091
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.753-27C>T	rs374911841
NM_000018.4(ACADVL):c.799_802del (p.Val267fs)	rs761204548
NM_000018.4(ACADVL):c.932del (p.Phe311fs)	rs764488310
NM_000018.4(ACADVL):c.996dup (p.Ala333fs)	rs1057516843
NM_000019.4(ACAT1):c.*6dup	rs111390656
NM_000019.4(ACAT1):c.436-4G>C	rs3741050
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=)	rs1591367485
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg)	rs541517496
NM_000019.4(ACAT1):c.64_72+10del	rs1318268067
NM_000019.4(ACAT1):c.730+2T>C	rs398123096
NM_000019.4(ACAT1):c.921A>G (p.Thr307=)	rs2077610591
NM_000022.4(ADA):c.311C>T (p.Pro104Leu)	rs1452483770
NM_000022.4(ADA):c.385G>A (p.Val129Met)	rs121908731
NM_000022.4(ADA):c.703C>T (p.Arg235Trp)	rs778809577
NM_000022.4(ADA):c.708G>A (p.Leu236=)	rs757155433
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_000023.4(SGCA):c.402C>G (p.Tyr134Ter)	rs780264754
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)	rs372210292
NM_000023.4(SGCA):c.488dup (p.Leu164fs)	rs763986788
NM_000023.4(SGCA):c.49G>A (p.Gly17Arg)	rs573792379
NM_000023.4(SGCA):c.675C>T (p.Gly225=)	rs773985328
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.957-1G>T	rs2144502043
NM_000027.4(AGA):c.128-7dup	rs1736960600
NM_000027.4(AGA):c.200_201del (p.Glu67fs)	rs386833420
NM_000027.4(AGA):c.34G>T (p.Val12Leu)	rs74626221
NM_000027.4(AGA):c.585T>C (p.His195=)	rs1736860088
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.577del (p.Leu193fs)	rs180177241
NM_000030.3(AGXT):c.584T>G (p.Met195Arg)	rs180177244
NM_000030.3(AGXT):c.839C>T (p.Ala280Val)	rs73106685
NM_000033.4(ABCD1):c.1053C>T (p.Ile351=)	rs1887821307
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=)	rs782250326
NM_000033.4(ABCD1):c.1326C>T (p.Asp442=)	rs782419455
NM_000033.4(ABCD1):c.1367G>A (p.Arg456His)	rs782159028
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)	rs128624221
NM_000033.4(ABCD1):c.1489-6del	rs398123101
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.1849C>T (p.Arg617Cys)	rs4010613
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr)	rs782041940
NM_000033.4(ABCD1):c.615G>A (p.Ala205=)	rs782601474
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)	rs781904944
NM_000035.4(ALDOB):c.282C>T (p.Phe94=)	rs549682194
NM_000035.4(ALDOB):c.324+1G>A	rs764826805
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)	rs387906225
NM_000035.4(ALDOB):c.486C>T (p.Leu162=)	rs773334784
NM_000035.4(ALDOB):c.759C>T (p.Thr253=)	rs146360505
NM_000035.4(ALDOB):c.865del (p.Leu289fs)	rs864309533
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del)	rs550086186
NM_000046.5(ARSB):c.574T>C (p.Cys192Arg)	rs1554087423
NM_000046.5(ARSB):c.666C>T (p.Leu222=)	rs1752122294
NM_000046.5(ARSB):c.951A>G (p.Arg317=)	rs1318270777
NM_000048.4(ASL):c.1080G>C (p.Met360Ile)	rs1786857910
NM_000048.4(ASL):c.175G>A (p.Glu59Lys)	rs869312985
NM_000048.4(ASL):c.402C>A (p.Gly134=)	rs1308519514
NM_000048.4(ASL):c.437G>A (p.Arg146Gln)	rs796051931
NM_000048.4(ASL):c.503G>A (p.Arg168His)	rs727503811
NM_000048.4(ASL):c.571C>G (p.Arg191Gly)	rs143508372
NM_000048.4(ASL):c.675C>G (p.Ile225Met)	rs1554327265
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.244dup (p.Met82fs)	rs756198538
NM_000049.4(ASPA):c.541C>A (p.Pro181Thr)	rs786204572
NM_000049.4(ASPA):c.693C>T (p.Tyr231=)	rs12948217
NM_000049.4(ASPA):c.723T>C (p.Ala241=)	rs2073877008
NM_000049.4(ASPA):c.876_879del (p.Glu293fs)	rs766720790
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)	rs587780612
NM_000051.4(ATM):c.1215del (p.Asn405fs)	rs1555069815
NM_000051.4(ATM):c.1235+4_1235+5del	rs770033355
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer)	rs587781598
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro)	rs786203783
NM_000051.4(ATM):c.1899-7C>A	rs1060501584
NM_000051.4(ATM):c.2112T>C (p.Asn704=)	rs2080317012
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)	rs587781658
NM_000051.4(ATM):c.2377-6T>A	rs876660963
NM_000051.4(ATM):c.2467-8C>G	rs1425701157
NM_000051.4(ATM):c.2638+1G>T	rs2135509713
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.2873A>G (p.Glu958Gly)	rs587778069
NM_000051.4(ATM):c.2880del (p.Leu961fs)	rs730881300
NM_000051.4(ATM):c.2921+1G>A	rs587781558
NM_000051.4(ATM):c.2945G>A (p.Arg982His)	rs749471737
NM_000051.4(ATM):c.2952A>G (p.Gln984=)	rs1476499901
NM_000051.4(ATM):c.3064A>T (p.Ile1022Phe)	rs786202470
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro)	rs568461905
NM_000051.4(ATM):c.3154-4G>A	rs199543313
NM_000051.4(ATM):c.3258C>T (p.Arg1086=)	rs773277362
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala)	rs572564322
NM_000051.4(ATM):c.3403-4T>C	rs1591636158
NM_000051.4(ATM):c.398A>T (p.Asn133Ile)	rs730881330
NM_000051.4(ATM):c.3993+4T>C	rs2082390512
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly)	rs763457172
NM_000051.4(ATM):c.5177+5G>A	rs759373136
NM_000051.4(ATM):c.5475A>G (p.Gln1825=)	rs1555106560
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.6096-9_6096-5del	rs879254095
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)	rs397514577
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.7370A>C (p.Glu2457Ala)	rs778482902
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)	rs759965045
NM_000051.4(ATM):c.7767del (p.Lys2589fs)	rs1057517025
NM_000051.4(ATM):c.7788G>A (p.Glu2596=)	rs587780639
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter)	rs587781967
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)	rs786202800
NM_000051.4(ATM):c.8419-7_8419-4del	rs730881306
NM_000051.4(ATM):c.846A>T (p.Leu282Phe)	rs754008850
NM_000051.4(ATM):c.8787-6C>T	rs1591313765
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs)	rs786204726
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)	rs770641163
NM_000051.4(ATM):c.8987+5G>C	rs876660570
NM_000051.4(ATM):c.928A>G (p.Ser310Gly)	rs745773225
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter)	rs151340633
NM_000053.4(ATP7B):c.-123_-119dupCGCCG	rs148013251
NM_000053.4(ATP7B):c.1002T>C (p.Ser334=)	rs1951990469
NM_000053.4(ATP7B):c.1092C>G (p.Ala364=)	rs1482077950
NM_000053.4(ATP7B):c.1401T>G (p.Pro467=)	rs529527733
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer)	rs1057516893
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs)	rs753962912
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His)	rs72552285
NM_000053.4(ATP7B):c.1965G>A (p.Leu655=)	rs574041847
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg)	rs121908001
NM_000053.4(ATP7B):c.2124C>A (p.Leu708=)	rs779988850
NM_000053.4(ATP7B):c.2241C>A (p.Ile747=)	rs757991922
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly)	rs137853284
NM_000053.4(ATP7B):c.2356-9A>G	rs1339073174
NM_000053.4(ATP7B):c.2447+8_2447+9insAA	rs746283578
NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly)	rs752634617
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn)	rs540935874
NM_000053.4(ATP7B):c.2784CAT[2] (p.Ile930del)	rs1228359983
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=)	rs746358240
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)	rs775055397
NM_000053.4(ATP7B):c.3029A>G (p.Lys1010Arg)	rs747584649
NM_000053.4(ATP7B):c.3088G>A (p.Gly1030Ser)	rs1957518268
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter)	rs753236073
NM_000053.4(ATP7B):c.3244-2A>G	rs786204584
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe)	rs1286080173
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His)	rs377297166
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala)	rs1387431334
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.3659C>T (p.Thr1220Met)	rs193922107
NM_000053.4(ATP7B):c.3756C>T (p.Val1252=)	rs1395442643
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.540C>T (p.Asn180=)	rs537892210
NM_000053.4(ATP7B):c.690T>C (p.Thr230=)	rs1033565003
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)	rs786204570
NM_000057.4(BLM):c.1220G>C (p.Arg407Thr)	rs1350192744
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs)	rs746244182
NM_000057.4(BLM):c.1544dup (p.Asn515fs)	rs367543043
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.2349_2350del (p.Leu783_Tyr784insTer)	rs1555420844
NM_000057.4(BLM):c.2407-7del	rs769184675
NM_000057.4(BLM):c.2407dup (p.Trp803fs)	rs367543012
NM_000057.4(BLM):c.2824-7A>G	rs374616797
NM_000057.4(BLM):c.3039T>C (p.His1013=)	rs747406569
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr)	rs367543029
NM_000057.4(BLM):c.3416G>C (p.Arg1139Pro)	rs771776126
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.581_582del (p.Phe193_Phe194insTer)	rs367543026
NM_000057.4(BLM):c.772_773del (p.Leu258fs)	rs367543013
NM_000057.4(BLM):c.98+1G>A	rs750293380
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.1251G>A (p.Thr417=)	rs151090625
NM_000070.3(CAPN3):c.1293G>A (p.Val431=)	rs1009544440
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.1896G>A (p.Lys632=)	rs746786954
NM_000070.3(CAPN3):c.2148G>A (p.Glu716=)	rs770894443
NM_000070.3(CAPN3):c.222T>G (p.Leu74=)	rs551850600
NM_000070.3(CAPN3):c.397G>A (p.Ala133Thr)	rs946415346
NM_000070.3(CAPN3):c.550del (p.Thr184fs)	rs80338800
NM_000070.3(CAPN3):c.632+8A>G	rs2053447422
NM_000070.3(CAPN3):c.864A>G (p.Ala288=)	rs1555420768
NM_000070.3(CAPN3):c.946-9_946-5del	rs758101156
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
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.1358+1G>A	rs786204679
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.430G>C (p.Glu144Gln)	rs121964966
NM_000071.3(CBS):c.493T>G (p.Cys165Gly)	rs1234354755
NM_000071.3(CBS):c.502G>A (p.Val168Met)	rs121964970
NM_000071.3(CBS):c.612G>T (p.Val204=)	rs539670390
NM_000071.3(CBS):c.825C>T (p.Cys275=)	rs764638041
NM_000071.3(CBS):c.829-8C>G	rs750081937
NM_000071.3(CBS):c.954+1G>A	rs1057517373
NM_000080.4(CHRNE):c.1220-2A>G	rs1309292778
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.905C>G (p.Pro302Arg)	rs370019023
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln)	rs760022829
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=)	rs56247709
NM_000092.5(COL4A4):c.3488G>T (p.Gly1163Val)	rs1559480099
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg)	rs190148408
NM_000092.5(COL4A4):c.81_86del (p.27IL[1])	rs771943519
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.2548G>A (p.Asp850Asn)	rs538387822
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.3551-3T>G	rs773263825
NM_000094.4(COL7A1):c.3939C>T (p.Ala1313=)	rs141825319
NM_000094.4(COL7A1):c.3942dup (p.Asn1315fs)	rs747912732
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.5532+1G>A	rs767182886
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.7984-7del	rs66737445
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.448A>G (p.Thr150Ala)	rs141505320
NM_000102.4(CYP17A1):c.1117C>G (p.His373Asp)	rs1423560123
NM_000102.4(CYP17A1):c.157TTC[1] (p.Phe54del)	rs121434319
NM_000102.4(CYP17A1):c.186C>T (p.Pro62=)	rs1844174531
NM_000108.5(DLD):c.439-6G>C	rs369208046
NM_000108.5(DLD):c.597A>G (p.Thr199=)	rs768248572
NM_000126.4(ETFA):c.351+9G>A	rs2039774067
NM_000126.4(ETFA):c.36G>A (p.Arg12=)	rs1299355915
NM_000128.4(F11):c.1028+9T>G	rs376630194
NM_000130.5(F5):c.2241AGA[2] (p.Glu750del)	rs575766548
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)	rs878853660
NM_000135.4(FANCA):c.1290G>A (p.Ala430=)	rs1800332
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg)	rs2040074214
NM_000135.4(FANCA):c.1475A>T (p.His492Leu)	rs925457555
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.2223-8C>G	rs1598110961
NM_000135.4(FANCA):c.2248G>A (p.Val750Met)	rs747723074
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro)	rs137913973
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter)	rs1555547474
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp)	rs201152989
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)	rs755546887
NM_000135.4(FANCA):c.2904G>A (p.Ser968=)	rs568354015
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)	rs753063086
NM_000135.4(FANCA):c.3239+1dup	rs766989857
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile)	rs536839082
NM_000135.4(FANCA):c.3266T>G (p.Val1089Gly)	rs2038476999
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys)	rs751309143
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del)	rs1380850249
NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val)	rs545742908
NM_000135.4(FANCA):c.375C>T (p.Cys125=)	rs199793463
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)	rs139160837
NM_000135.4(FANCA):c.377C>T (p.Thr126Met)	rs139160837
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr)	rs142919010
NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro)	rs142919010
NM_000135.4(FANCA):c.3935-1G>A	rs1555533693
NM_000135.4(FANCA):c.3961C>T (p.Arg1321Cys)	rs755375493
NM_000135.4(FANCA):c.402T>C (p.Pro134=)	rs745666586
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn)	rs748856769
NM_000135.4(FANCA):c.68C>T (p.Ala23Val)	rs776297241
NM_000135.4(FANCA):c.80-8C>G	rs749080227
NM_000135.4(FANCA):c.826+10T>C	rs536052530
NM_000135.4(FANCA):c.851G>C (p.Gly284Ala)	rs762079136
NM_000135.4(FANCA):c.916_917del (p.Thr306fs)	rs764122657
NM_000135.4(FANCA):c.93G>C (p.Lys31Asn)	rs759630319
NM_000135.4(FANCA):c.964C>T (p.His322Tyr)	rs772768595
NM_000135.4(FANCA):c.987_990del (p.His330fs)	rs772359099
NM_000136.3(FANCC):c.1014G>A (p.Lys338=)	rs780776360
NM_000136.3(FANCC):c.1485G>A (p.Leu495=)	rs56082100
NM_000136.3(FANCC):c.345+4AG[2]	rs755657969
NM_000136.3(FANCC):c.996+1G>A	rs370510954
NM_000137.4(FAH):c.1141A>G (p.Arg381Gly)	rs121965077
NM_000137.4(FAH):c.192+1G>T	rs786204683
NM_000137.4(FAH):c.192+9T>C	rs1386784352
NM_000137.4(FAH):c.249G>A (p.Val83=)	rs370095143
NM_000137.4(FAH):c.455+9T>C	rs531129429
NM_000137.4(FAH):c.520C>T (p.Arg174Ter)	rs781496816
NM_000137.4(FAH):c.645G>T (p.Pro215=)	rs151221329
NM_000143.4(FH):c.1A>C (p.Met1Leu)	rs776806414
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe)	rs367727229
NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu)	rs1189630738
NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter)	rs1555559991
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser)	rs80356482
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg)	rs2056092151
NM_000151.4(G6PC1):c.964T>G (p.Phe322Val)	rs1567706564
NM_000151.4(G6PC1):c.980_982del (p.Phe327del)	rs80356486
NM_000152.5(GAA):c.1051del (p.Val351fs)	rs786204507
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)	rs142752477
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu)	rs776008078
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del)	rs1555600235
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn)	rs535644999
NM_000152.5(GAA):c.1375G>C (p.Asp459His)	rs535644999
NM_000152.5(GAA):c.1377C>T (p.Asp459=)	rs778121058
NM_000152.5(GAA):c.1388_1405del (p.Arg463_Thr469delinsPro)	rs2039192921
NM_000152.5(GAA):c.1438-1G>C	rs147804176
NM_000152.5(GAA):c.1438-2A>G	rs1555600730
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)	rs2039212985
NM_000152.5(GAA):c.1564C>A (p.Pro522Thr)	rs892129065
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala)	rs892129065
NM_000152.5(GAA):c.1636+9G>T	rs200302174
NM_000152.5(GAA):c.1650dup (p.Thr551fs)	rs766398206
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys)	rs1428112902
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys)	rs369531647
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn)	rs368438393
NM_000152.5(GAA):c.1933G>C (p.Asp645His)	rs368438393
NM_000152.5(GAA):c.1941C>T (p.Cys647=)	rs776948121
NM_000152.5(GAA):c.1A>G (p.Met1Val)	rs786204467
NM_000152.5(GAA):c.2112A>C (p.Ala704=)	rs1449566083
NM_000152.5(GAA):c.2140del (p.His714fs)	rs786204549
NM_000152.5(GAA):c.2185del (p.Leu729fs)	rs1057516581
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn)	rs553430197
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg)	rs1567838823
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)	rs752921215
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu)	rs752921215
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter)	rs1800312
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)	rs1800312
NM_000152.5(GAA):c.2242dup (p.Glu748fs)	rs777275355
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser)	rs144016984
NM_000152.5(GAA):c.2307G>A (p.Leu769=)	rs372800172
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs)	rs886043343
NM_000152.5(GAA):c.2647-71G>C	rs4889821
NM_000152.5(GAA):c.546+5G>T	rs756024023
NM_000152.5(GAA):c.546G>C (p.Thr182=)	rs143523371
NM_000152.5(GAA):c.569G>T (p.Arg190Leu)	rs528367092
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter)	rs376229714
NM_000152.5(GAA):c.688G>A (p.Val230Met)	rs145866792
NM_000152.5(GAA):c.732G>C (p.Gln244His)	rs1178922366
NM_000152.5(GAA):c.858+10C>T	rs758283022
NM_000152.5(GAA):c.858+17_858+23del	rs1555599723
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGC	rs3071247
NM_000153.4(GALC):c.1110C>T (p.Tyr370=)	rs372793797
NM_000153.4(GALC):c.1758T>C (p.Gly586=)	rs746189262
NM_000153.4(GALC):c.329-10_329-8del	rs770389075
NM_000153.4(GALC):c.41C>G (p.Ala14Gly)	rs373587692
NM_000153.4(GALC):c.433dup (p.Thr145fs)	rs1555383679
NM_000153.4(GALC):c.453G>A (p.Trp151Ter)	rs745620101
NM_000153.4(GALC):c.516C>T (p.Ala172=)	rs1248283732
NM_000153.4(GALC):c.560A>T (p.Asp187Val)	rs997021099
NM_000153.4(GALC):c.621G>A (p.Lys207=)	rs1428763453
NM_000153.4(GALC):c.658C>T (p.Arg220Ter)	rs766310671
NM_000153.4(GALC):c.65G>A (p.Gly22Asp)	rs372285275
NM_000153.4(GALC):c.678T>C (p.Ser226=)	rs1595226323
NM_000153.4(GALC):c.680A>G (p.Asp227Gly)	rs1886495923
NM_000153.4(GALC):c.909-3del	rs1212915595
NM_000154.2(GALK1):c.117C>T (p.Asn39=)	rs1599336904
NM_000154.2(GALK1):c.410del (p.Gly137fs)	rs767329054
NM_000154.2(GALK1):c.864G>A (p.Thr288=)	rs201247556
NM_000157.4(GBA1):c.203dup (p.Thr69fs)	rs1170895261
NM_000158.4(GBE1):c.1336-1G>A	rs375253942
NM_000158.4(GBE1):c.143+2T>C	rs2107250439
NM_000158.4(GBE1):c.1656A>C (p.Pro552=)	rs1340229013
NM_000158.4(GBE1):c.333G>A (p.Ser111=)	rs374518318
NM_000158.4(GBE1):c.969T>C (p.Asp323=)	rs555689284
NM_000159.4(GCDH):c.1124G>A (p.Cys375Tyr)	rs1568429153
NM_000159.4(GCDH):c.1173dup (p.Asn392fs)	rs754002357
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln)	rs786204626
NM_000159.4(GCDH):c.1287G>A (p.Thr429=)	rs141819282
NM_000159.4(GCDH):c.219del (p.Tyr74fs)	rs1057516521
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)	rs566417795
NM_000159.4(GCDH):c.281G>T (p.Arg94Leu)	rs566417795
NM_000159.4(GCDH):c.397G>A (p.Val133Met)	rs746388510
NM_000159.4(GCDH):c.680G>A (p.Arg227Gln)	rs121434373
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp)	rs964724051
NM_000159.4(GCDH):c.957-6A>C	rs748270195
NM_000166.6(GJB1):c.187G>A (p.Val63Ile)	rs116840818
NM_000166.6(GJB1):c.283G>A (p.Val95Met)	rs104894821
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)	rs1060501002
NM_000169.3(GLA):c.239G>A (p.Gly80Asp)	rs781838005
NM_000169.3(GLA):c.525C>G (p.Asp175Glu)	rs782722844
NM_000169.3(GLA):c.870G>A (p.Met290Ile)	rs869312438
NM_000170.3(GLDC):c.1444dup (p.Asp482fs)	rs386833526
NM_000170.3(GLDC):c.1545G>A (p.Arg515=)	rs121964976
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)	rs121964976
NM_000170.3(GLDC):c.1553C>G (p.Pro518Arg)	rs761064507
NM_000170.3(GLDC):c.1554G>C (p.Pro518=)	rs377219563
NM_000170.3(GLDC):c.1868_1869dup (p.Ala624fs)	rs772068893
NM_000170.3(GLDC):c.1927-4G>A	rs576723612
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del)	rs769625871
NM_000170.3(GLDC):c.2203-2A>G	rs386833545
NM_000170.3(GLDC):c.2310C>T (p.Ile770=)	rs765661419
NM_000170.3(GLDC):c.2316-13_2316-12dup	rs3215923
NM_000170.3(GLDC):c.2316-6dup	rs3215923
NM_000170.3(GLDC):c.2383T>A (p.Cys795Ser)	rs567167527
NM_000170.3(GLDC):c.2481_2484del (p.Gln828fs)	rs766762760
NM_000170.3(GLDC):c.2798T>C (p.Ile933Thr)	rs758029533
NM_000170.3(GLDC):c.2859C>G (p.Thr953=)	rs1817083513
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys)	rs386833580
NM_000170.3(GLDC):c.609C>T (p.Ala203=)	rs201699152
NM_000170.3(GLDC):c.635G>A (p.Arg212Lys)	rs386833584
NM_000170.3(GLDC):c.706C>T (p.Arg236Ter)	rs386833585
NM_000182.5(HADHA):c.1086-3_1092del	rs1057516460
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs)	rs868816467
NM_000182.5(HADHA):c.274_278del (p.Ser92fs)	rs781205883
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp)	rs786204607
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter)	rs137852775
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs)	rs752137615
NM_000191.3(HMGCL):c.528T>C (p.Tyr176=)	rs112508527
NM_000191.3(HMGCL):c.765C>T (p.Val255=)	rs778296169
NM_000195.5(HPS1):c.972dup (p.Met325fs)	rs281865082
NM_000198.4(HSD3B2):c.1000C>T (p.Gln334Ter)	rs905880501
NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=)	rs781770416
NM_000198.4(HSD3B2):c.465G>A (p.Pro155=)	rs114527791
NM_000199.5(SGSH):c.1159G>A (p.Val387Met)	rs62620232
NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr)	rs368454909
NM_000203.5(IDUA):c.1149C>T (p.Arg383=)	rs767632084
NM_000203.5(IDUA):c.1190-10C>A	rs1443642527
NM_000203.5(IDUA):c.1330GAC[1] (p.Asp445del)	rs1715188461
NM_000203.5(IDUA):c.1460G>T (p.Trp487Leu)	rs1715210316
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)	rs121965027
NM_000203.5(IDUA):c.1479C>A (p.Pro493=)	rs370394527
NM_000203.5(IDUA):c.1491G>A (p.Thr497=)	rs374102243
NM_000203.5(IDUA):c.1525-3dup	rs762593235
NM_000203.5(IDUA):c.1651-10C>T	rs548878643
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del)	rs774605197
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg)	rs776098539
NM_000203.5(IDUA):c.590-7G>A	rs762411583
NM_000203.5(IDUA):c.618G>A (p.Ser206=)	rs377312287
NM_000203.5(IDUA):c.793-9C>T	rs375798875
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr)	rs121965030
NM_000231.3(SGCG):c.195+4_195+7del	rs797045106
NM_000231.3(SGCG):c.507G>T (p.Gly169=)	rs199905729
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)	rs104894422
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter)	rs750773622
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser)	rs398123263
NM_000232.5(SGCB):c.87_89del (p.Arg30del)	rs780654411
NM_000232.5(SGCB):c.90G>A (p.Arg30=)	rs11541942
NM_000235.4(LIPA):c.1052ACG[1] (p.Asp352del)	rs767207643
NM_000235.4(LIPA):c.482del (p.Asn161fs)	rs762559980
NM_000235.4(LIPA):c.539-5C>A	rs2297472
NM_000235.4(LIPA):c.594dup (p.Ala199fs)	rs780495201
NM_000237.3(LPL):c.290C>T (p.Ala97Val)	rs201946950
NM_000237.3(LPL):c.784C>T (p.Gln262Ter)	rs1297688787
NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu)	rs11466024
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)	rs11466026
NM_000243.3(MEFV):c.1352T>G (p.Phe451Cys)	rs1958986915
NM_000243.3(MEFV):c.1368A>C (p.Glu456Asp)	rs1567233429
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)	rs104895083
NM_000243.3(MEFV):c.1459G>A (p.Val487Met)	rs104895100
NM_000243.3(MEFV):c.2044_2045del (p.Leu682fs)	rs1355225244
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del)	rs104895091
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	rs61732874
NM_000243.3(MEFV):c.342G>A (p.Lys114=)	rs981883034
NM_000243.3(MEFV):c.343C>A (p.Pro115Thr)	rs147557169
NM_000243.3(MEFV):c.548C>T (p.Pro183Leu)	rs777009752
NM_000243.3(MEFV):c.564C>T (p.Pro188=)	rs775755423
NM_000243.3(MEFV):c.585G>A (p.Glu195=)	rs200766991
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp)	rs104895179
NM_000246.4(CIITA):c.1044G>T (p.Thr348=)	rs140683241
NM_000246.4(CIITA):c.2142A>G (p.Gln714=)	rs188988714
NM_000246.4(CIITA):c.2179G>C (p.Glu727Gln)	rs548646642
NM_000246.4(CIITA):c.2259C>T (p.Gly753=)	rs754313400
NM_000246.4(CIITA):c.2331G>A (p.Ser777=)	rs34685848
NM_000246.4(CIITA):c.2658-10C>T	rs1337213724
NM_000246.4(CIITA):c.3261C>G (p.Ala1087=)	rs149640268
NM_000246.4(CIITA):c.531C>T (p.Ser177=)	rs188055251
NM_000246.4(CIITA):c.649T>C (p.Leu217=)	rs773897183
NM_000246.4(CIITA):c.950C>A (p.Ser317Tyr)	rs116253192
NM_000246.4(CIITA):c.965C>T (p.Pro322Leu)	rs74806537
NM_000252.3(MTM1):c.1054-9_1054-6del	rs782691958
NM_000255.4(MMUT):c.754-17dup	rs750770186
NM_000255.4(MMUT):c.754-7del	rs750770186
NM_000255.4(MMUT):c.935G>T (p.Gly312Val)	rs864309734
NM_000260.4(MYO7A):c.133-7C>T	rs111033221
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His)	rs148343670
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)	rs200454015
NM_000260.4(MYO7A):c.2905-1G>C	rs1171417339
NM_000260.4(MYO7A):c.3509A>G (p.Glu1170Gly)	rs1555090196
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs)	rs111033347
NM_000260.4(MYO7A):c.5598C>T (p.Leu1866=)	rs111033504
NM_000260.4(MYO7A):c.93C>T (p.Cys31=)	rs35689081
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro)	rs104894598
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu)	rs104894598
NM_000263.4(NAGLU):c.933C>G (p.Ala311=)	rs115888189
NM_000271.5(NPC1):c.1089G>T (p.Ala363=)	rs901122746
NM_000271.5(NPC1):c.1554-1009G>A	rs1055204017
NM_000271.5(NPC1):c.180+8C>A	rs778096289
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg)	rs2058768195
NM_000271.5(NPC1):c.1947+10G>C	rs71534236
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG	rs1555634618
NM_000271.5(NPC1):c.2079G>A (p.Leu693=)	rs2058754303
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe)	rs145362908
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg)	rs80358254
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)	rs80358254
NM_000271.5(NPC1):c.3001A>G (p.Met1001Val)	rs2058666849
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter)	rs786204455
NM_000271.5(NPC1):c.3246-2A>G	rs886042268
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr)	rs1338658857
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr)	rs778878523
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)	rs55724504
NM_000271.5(NPC1):c.3693C>T (p.Ala1231=)	rs1374064168
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs)	rs1064794009
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs)	rs886044580
NM_000274.4(OAT):c.159del (p.His53fs)	rs386833599
NM_000274.4(OAT):c.192_193del (p.Gly65fs)	rs386833600
NM_000274.4(OAT):c.521-6T>G	rs369018496
NM_000274.4(OAT):c.966A>T (p.Thr322=)	rs1951417723
NM_000277.3(PAH):c.1065+9T>G	rs1874730997
NM_000277.3(PAH):c.1066-7C>T	rs1242756437
NM_000277.3(PAH):c.1089del (p.Lys363fs)	rs5030654
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del)	rs199475565
NM_000277.3(PAH):c.1199+1G>A	rs62509015
NM_000277.3(PAH):c.1199+1G>C	rs62509015
NM_000277.3(PAH):c.1262T>G (p.Ile421Ser)	rs199475696
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp)	rs199475659
NM_000277.3(PAH):c.168+1G>A	rs62514898
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del)	rs62508727
NM_000277.3(PAH):c.353-7_353-5dup	rs1452763334
NM_000277.3(PAH):c.456T>C (p.Pro152=)	rs377244118
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer)	rs62642906
NM_000277.3(PAH):c.500A>G (p.Asn167Ser)	rs77554925
NM_000277.3(PAH):c.500A>T (p.Asn167Ile)	rs77554925
NM_000277.3(PAH):c.510-5T>A	rs1875378128
NM_000277.3(PAH):c.510T>A (p.His170Gln)	rs199475652
NM_000277.3(PAH):c.527G>A (p.Arg176Gln)	rs74486803
NM_000277.3(PAH):c.527G>T (p.Arg176Leu)	rs74486803
NM_000277.3(PAH):c.529G>A (p.Val177Met)	rs199475602
NM_000277.3(PAH):c.529G>C (p.Val177Leu)	rs199475602
NM_000277.3(PAH):c.54T>C (p.Phe18=)	rs1878411076
NM_000277.3(PAH):c.592_613del (p.Tyr198fs)	rs199475697
NM_000277.3(PAH):c.601C>T (p.His201Tyr)	rs62517205
NM_000277.3(PAH):c.632C>T (p.Pro211Leu)	rs281865443
NM_000277.3(PAH):c.638T>C (p.Leu213Pro)	rs62516109
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer)	rs62514936
NM_000277.3(PAH):c.770G>T (p.Gly257Val)	rs62642908
NM_000277.3(PAH):c.805A>C (p.Ile269Leu)	rs62508692
NM_000277.3(PAH):c.833C>A (p.Thr278Asn)	rs62507262
NM_000277.3(PAH):c.912G>A (p.Gln304=)	rs199475583
NM_000277.3(PAH):c.929C>T (p.Ser310Phe)	rs62642913
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys)	rs62508578
NM_000282.4(PCCA):c.1651G>A (p.Val551Ile)	rs61749895
NM_000282.4(PCCA):c.183+4_183+7del	rs1555342581
NM_000282.4(PCCA):c.1884G>A (p.Gln628=)	rs552141237
NM_000282.4(PCCA):c.1953G>A (p.Leu651=)	rs765771203
NM_000282.4(PCCA):c.2040+9TG[3]	rs751014655
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs)	rs749875940
NM_000282.4(PCCA):c.717-2A>G	rs2062611307
NM_000282.4(PCCA):c.722del (p.Gly241fs)	rs745571507
NM_000282.4(PCCA):c.914+8T>A	rs543352333
NM_000282.4(PCCA):c.915-1G>C	rs367615795
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly)	rs146927771
NM_000282.4(PCCA):c.999G>A (p.Gly333=)	rs2063427075
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa)	rs762505127
NM_000287.4(PEX6):c.1234-8_1234-7dup	rs200121485
NM_000289.6(PFKM):c.1063-6C>A	rs371033104
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter)	rs1064795749
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro)	rs121918193
NM_000289.6(PFKM):c.1192-3_1192-2del	rs780969059
NM_000303.3(PMM2):c.129G>A (p.Val43=)	rs777608895
NM_000303.3(PMM2):c.131T>C (p.Val44Ala)	rs104894534
NM_000303.3(PMM2):c.1A>G (p.Met1Val)	rs786204591
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser)	rs769648248
NM_000303.3(PMM2):c.385G>A (p.Val129Met)	rs104894525
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys)	rs80338703
NM_000303.3(PMM2):c.457A>G (p.Ile153Val)	rs1596489094
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile)	rs78290141
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys)	rs558826439
NM_000303.3(PMM2):c.687C>G (p.Tyr229Ter)	rs148759949
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)	rs80338708
NM_000303.3(PMM2):c.710C>T (p.Thr237Met)	rs80338708
NM_000303.3(PMM2):c.93C>T (p.Phe31=)	rs61730638
NM_000310.4(PPT1):c.169dup (p.Met57fs)	rs386833634
NM_000310.4(PPT1):c.249CTT[2] (p.Phe85del)	rs386833637
NM_000310.4(PPT1):c.727-10T>G	rs554894547
NM_000317.3(PTS):c.-24_9del	rs2135407114
NM_000317.3(PTS):c.166G>A (p.Val56Met)	rs104894277
NM_000317.3(PTS):c.166GTG[1] (p.Val57del)	rs770387277
NM_000317.3(PTS):c.393del (p.Val132fs)	rs780332520
NM_000317.3(PTS):c.400G>T (p.Glu134Ter)	rs779681799
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)	rs62653015
NM_000329.3(RPE65):c.718G>T (p.Val240Phe)	rs192907397
NM_000330.4(RS1):c.574C>T (p.Pro192Ser)	rs61753174
NM_000349.3(STAR):c.120G>A (p.Leu40=)	rs138786388
NM_000349.3(STAR):c.544C>T (p.Arg182Cys)	rs369232492
NM_000349.3(STAR):c.545G>A (p.Arg182His)	rs104894086
NM_000352.6(ABCC8):c.1672-20A>T	rs931436550
NM_000352.6(ABCC8):c.2041-12C>T	rs201419039
NM_000352.6(ABCC8):c.2259A>G (p.Pro753=)	rs1955020359
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)	rs1382448285
NM_000352.6(ABCC8):c.3399+45C>A	rs200276273
NM_000352.6(ABCC8):c.3502T>C (p.Leu1168=)	rs565968675
NM_000352.6(ABCC8):c.3650+4C>G	rs374315114
NM_000352.6(ABCC8):c.3651-4C>G	rs1954058406
NM_000352.6(ABCC8):c.3988+19G>C	rs576340695
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile)	rs138642224
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)	rs28938469
NM_000352.6(ABCC8):c.4281C>T (p.Asp1427=)	rs1334003978
NM_000359.3(TGM1):c.1187G>A (p.Arg396His)	rs121918721
NM_000359.3(TGM1):c.802del (p.Val268fs)	rs1322979131
NM_000359.3(TGM1):c.919C>T (p.Arg307Trp)	rs121918731
NM_000360.4(TH):c.1105-5C>G	rs535794692
NM_000360.4(TH):c.1170C>G (p.Ala390=)	rs199839852
NM_000360.4(TH):c.120C>T (p.Ser40=)	rs766048900
NM_000360.4(TH):c.1215G>A (p.Glu405=)	rs1590165298
NM_000360.4(TH):c.1227T>C (p.Ile409=)	rs546226132
NM_000360.4(TH):c.1228C>T (p.Arg410Trp)	rs575326605
NM_000360.4(TH):c.12C>A (p.Pro4=)	rs147131010
NM_000360.4(TH):c.1442G>A (p.Gly481Asp)	rs564949885
NM_000360.4(TH):c.202C>T (p.Leu68=)	rs372393199
NM_000360.4(TH):c.203del (p.Leu68fs)	rs1554923852
NM_000360.4(TH):c.81G>T (p.Glu27Asp)	rs139742336
NM_000360.4(TH):c.951G>A (p.Ala317=)	rs1590167106
NM_000360.4(TH):c.978-6G>A	rs75487597
NM_000370.3(TTPA):c.36G>T (p.Pro12=)	rs773911591
NM_000370.3(TTPA):c.487del (p.Trp163fs)	rs397515378
NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs)	rs767751416
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter)	rs72547554
NM_000382.3(ALDH3A2):c.471+1del	rs786204741
NM_000383.4(AIRE):c.1249dup (p.Leu417fs)	rs786204567
NM_000383.4(AIRE):c.1476C>A (p.Pro492=)	rs72650679
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys)	rs179363882
NM_000383.4(AIRE):c.44G>T (p.Arg15Leu)	rs179363876
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter)	rs1057517241
NM_000383.4(AIRE):c.798C>G (p.Pro266=)	rs41277550
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)	rs386833675
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp)	rs1554901784
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter)	rs786204753
NM_000391.4(TPP1):c.1547_1548del (p.Leu515_Phe516insTer)	rs763961289
NM_000391.4(TPP1):c.357dup (p.Leu120fs)	rs1554902085
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter)	rs74315303
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)	rs137853097
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr)	rs28943591
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer)	rs758055753
NM_000441.2(SLC26A4):c.-66C>G	rs17154282
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)	rs146281367
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)	rs397516413
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met)	rs397516414
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg)	rs201660407
NM_000441.2(SLC26A4):c.1264-1G>C	rs111033311
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del)	rs111033306
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer)	rs786204601
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs)	rs786204450
NM_000441.2(SLC26A4):c.164+1del	rs786204504
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln)	rs111033318
NM_000441.2(SLC26A4):c.2127del (p.Phe709fs)	rs786204523
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs)	rs786204730
NM_000441.2(SLC26A4):c.486C>T (p.Leu162=)	rs370020280
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	rs111033256
NM_000441.2(SLC26A4):c.737del (p.Asn246fs)	rs918684449
NM_000466.3(PEX1):c.1077G>A (p.Lys359=)	rs138905930
NM_000466.3(PEX1):c.1077G>T (p.Lys359Asn)	rs138905930
NM_000466.3(PEX1):c.129+8G>A	rs1793393956
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp)	rs565049190
NM_000466.3(PEX1):c.1434T>G (p.Leu478=)	rs757668497
NM_000466.3(PEX1):c.1716_1717del (p.His572fs)	rs786204606
NM_000466.3(PEX1):c.1842del (p.Glu615fs)	rs267608176
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer)	rs1398892633
NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs)	rs61750414
NM_000466.3(PEX1):c.2584-10del	rs5885806
NM_000466.3(PEX1):c.2584-11_2584-10del	rs5885806
NM_000466.3(PEX1):c.2760del (p.Ala921fs)	rs1256376226
NM_000466.3(PEX1):c.2784-7T>C	rs777893142
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter)	rs1057517481
NM_000466.3(PEX1):c.2916del (p.Gly973fs)	rs61750426
NM_000466.3(PEX1):c.2941G>A (p.Ala981Thr)	rs566068815
NM_000466.3(PEX1):c.3108A>G (p.Ala1036=)	rs1030151030
NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer)	rs1585214453
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs)	rs769836601
NM_000466.3(PEX1):c.468A>G (p.Gln156=)	rs149729088
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter)	rs1554375599
NM_000466.3(PEX1):c.898G>T (p.Ala300Ser)	rs751506204
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)	rs121918009
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly)	rs1219494274
NM_000478.6(ALPL):c.1017dup (p.His340fs)	rs764908423
NM_000478.6(ALPL):c.1171del (p.Arg391fs)	rs751404811
NM_000478.6(ALPL):c.1419C>T (p.Gly473=)	rs373417343
NM_000478.6(ALPL):c.1557C>A (p.Pro519=)	rs376020180
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr)	rs121918013
NM_000478.6(ALPL):c.472+12del	rs35423948
NM_000478.6(ALPL):c.746G>T (p.Gly249Val)	rs121918018
NM_000481.4(AMT):c.1112G>A (p.Arg371His)	rs147006017
NM_000481.4(AMT):c.148G>T (p.Val50Leu)	rs148917929
NM_000481.4(AMT):c.15_18del (p.Ser6fs)	rs1553638904
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del)	rs386833683
NM_000481.4(AMT):c.471+2T>C	rs386833684
NM_000487.6(ARSA):c.1107+1del	rs1057517036
NM_000487.6(ARSA):c.1447G>T (p.Glu483Ter)	rs148352371
NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu)	rs6151428
NM_000487.6(ARSA):c.418dup (p.His140fs)	rs745884435
NM_000487.6(ARSA):c.449C>G (p.Pro150Arg)	rs199476375
NM_000487.6(ARSA):c.530G>A (p.Gly177Asp)	rs556812341
NM_000487.6(ARSA):c.622del (p.His208fs)	rs1555900900
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys)	rs74315483
NM_000487.6(ARSA):c.917C>T (p.Thr306Met)	rs199476359
NM_000487.6(ARSA):c.929G>A (p.Gly310Asp)	rs199476356
NM_000487.6(ARSA):c.937C>A (p.Arg313=)	rs551472773
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter)	rs551472773
NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn)	rs2071413817
NM_000489.6(ATRX):c.1509A>G (p.Gln503=)	rs1039587651
NM_000489.6(ATRX):c.1842C>T (p.Gly614=)	rs2071364653
NM_000489.6(ATRX):c.2592G>T (p.Gly864=)	rs782526944
NM_000489.6(ATRX):c.39A>G (p.Thr13=)	rs1244422748
NM_000489.6(ATRX):c.5566+5A>C	rs782212670
NM_000489.6(ATRX):c.5787-24GTTT[4]	rs782072699
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del)	rs782391479
NM_000489.6(ATRX):c.711T>C (p.Asn237=)	rs782710787
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000492.3(CFTR):c.2909_2924dup
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu)	rs397508137
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro)	rs397508144
NM_000492.4(CFTR):c.1037T>C (p.Leu346Pro)	rs397508146
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)	rs77932196
NM_000492.4(CFTR):c.1210-2A>C	rs397508179
NM_000492.4(CFTR):c.1254T>C (p.Asn418=)	rs62469440
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe)	rs201880593
NM_000492.4(CFTR):c.1278C>T (p.Asp426=)	rs2896225
NM_000492.4(CFTR):c.1311T>C (p.Gly437=)	rs1562895049
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)	rs74551128
NM_000492.4(CFTR):c.137C>A (p.Ala46Asp)	rs151020603
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile)	rs77646904
NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr)	rs1554384440
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg)	rs121908757
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)	rs121909013
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser)	rs397508267
NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly)	rs397508288
NM_000492.4(CFTR):c.1766+2T>A	rs1554389062
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg)	rs397508316
NM_000492.4(CFTR):c.1882G>C (p.Gly628Arg)	rs397508316
NM_000492.4(CFTR):c.2001C>T (p.His667=)	rs772786141
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)	rs1800076
NM_000492.4(CFTR):c.2490+7A>G	rs751864459
NM_000492.4(CFTR):c.276A>T (p.Glu92Asp)	rs397508432
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter)	rs193922514
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg)	rs142394380
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr)	rs121909020
NM_000492.4(CFTR):c.328G>C (p.Asp110His)	rs113993958
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg)	rs397508531
NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe)	rs397508573
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)	rs77834169
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)	rs75389940
NM_000492.4(CFTR):c.3717+40A>G	rs397508595
NM_000492.4(CFTR):c.3717+4A>G	rs387906362
NM_000492.4(CFTR):c.3718-3T>G	rs397508596
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly)	rs397508598
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro)	rs121909041
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys)	rs77010898
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)	rs397508617
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)	rs397508635
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)	rs397508658
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp)	rs193922525
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr)	rs200955612
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter)	rs397508675
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup)	rs397508686
NM_000492.4(CFTR):c.4242+2T>C	rs193922526
NM_000492.4(CFTR):c.4272C>G (p.Tyr1424Ter)	rs1800135
NM_000492.4(CFTR):c.454A>G (p.Met152Val)	rs397508721
NM_000492.4(CFTR):c.619C>T (p.Gln207Ter)	rs397508771
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly)	rs1554380515
NM_000492.4(CFTR):c.743+1G>C	rs397508791
NM_000492.4(CFTR):c.927C>T (p.Ala309=)	rs1800084
NM_000498.3(CYP11B2):c.1035G>C (p.Leu345=)	rs780878883
NM_000517.6(HBA2):c.*93_*94del	rs63751268
NM_000518.4(HBB):c.157G>A (p.Asp53Asn)	rs33961886
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	rs33946267
NM_000518.5(HBB):c.-10_-7del	rs34196559
NM_000518.5(HBB):c.-137C>G	rs33941377
NM_000518.5(HBB):c.-140C>G	rs34999973
NM_000518.5(HBB):c.-82C>T	rs34500389
NM_000518.5(HBB):c.126_129del (p.Phe42fs)	rs80356821
NM_000518.5(HBB):c.230del (p.Ala77fs)	rs281864901
NM_000518.5(HBB):c.2T>C (p.Met1Thr)	rs33941849
NM_000518.5(HBB):c.316-14T>G	rs35703285
NM_000518.5(HBB):c.316-3C>A	rs33913413
NM_000518.5(HBB):c.402G>C (p.Val134=)	rs113082294
NM_000518.5(HBB):c.4G>A (p.Val2Met)	rs33958358
NM_000518.5(HBB):c.85dup (p.Leu29fs)	rs35532010
NM_000518.5(HBB):c.92+1G>T	rs33971440
NM_000518.5(HBB):c.92+5G>A	rs33915217
NM_000518.5(HBB):c.92G>A (p.Arg31Lys)	rs33960103
NM_000518.5(HBB):c.93-15T>G	rs35456885
NM_000520.6(HEXA):c.1123del (p.Glu375fs)	rs766138785
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter)	rs988192535
NM_000520.6(HEXA):c.1183del (p.Asp395fs)	rs770303210
NM_000520.6(HEXA):c.1421+7del	rs747378954
NM_000520.6(HEXA):c.1525_1526+27del	rs2140319516
NM_000520.6(HEXA):c.346+1G>A	rs797044432
NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer)	rs1057519458
NM_000520.6(HEXA):c.672+1G>A	rs387906311
NM_000520.6(HEXA):c.78G>A (p.Trp26Ter)	rs121907964
NM_000520.6(HEXA):c.805+1G>A	rs121907980
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del)	rs121907960
NM_000520.6(HEXA):c.929_930del (p.Ser310fs)	rs751248523
NM_000521.4(HEXB):c.1345del (p.Trp449fs)	rs1324338803
NM_000521.4(HEXB):c.1509-26G>A	rs201580118
NM_000521.4(HEXB):c.150C>T (p.Ala50=)	rs779421706
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs)	rs794727091
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr)	rs778119481
NM_000521.4(HEXB):c.1613+14del	rs754704434
NM_000521.4(HEXB):c.42G>A (p.Leu14=)	rs1580377030
NM_000527.4(LDLR):c.-135C>G
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp)	rs387906306
NM_000527.5(LDLR):c.-188C>T	rs878854023
NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr)	rs139361635
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
NM_000527.5(LDLR):c.1060+10G>C
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1175G>A (p.Cys392Tyr)
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1235T>C (p.Met412Thr)	rs879254842
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val)	rs730882100
NM_000527.5(LDLR):c.1358+2T>A	rs193922567
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn)	rs780316072
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs)	rs869025453
NM_000527.5(LDLR):c.148G>A (p.Ala50Thr)	rs137853960
NM_000527.5(LDLR):c.1586+5G>C	rs781362878
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1658_1660del (p.Tyr553del)	rs1555806019
NM_000527.5(LDLR):c.1694G>A (p.Gly565Asp)	rs28942082
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr)	rs72658865
NM_000527.5(LDLR):c.1828T>C (p.Ser610Pro)	rs2077475503
NM_000527.5(LDLR):c.1836C>A (p.Ala612=)	rs143872778
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1987+6G>C	rs752382813
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2205C>T (p.Ala735=)	rs763213863
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter)	rs370018159
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn)	rs150104358
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp)	rs774698247
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)	rs137853964
NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter)	rs377437226
NM_000527.5(LDLR):c.370C>T (p.Arg124Trp)	rs879254498
NM_000527.5(LDLR):c.396G>A (p.Arg132=)	rs2077269758
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)	rs557344672
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.638G>C (p.Ser213Thr)	rs879254604
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)	rs121908027
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn)	rs875989906
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)	rs121908028
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
NM_000527.5(LDLR):c.694+25C>T
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.817+9T>C
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.859G>T (p.Gly287Cys)	rs375495026
NM_000527.5(LDLR):c.940+9C>T
NM_000527.5(LDLR):c.941-39C>T
NM_000527.5(LDLR):c.941-4G>A
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000528.4(MAN2B1):c.1048dup (p.His350fs)	rs2145262260
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter)	rs786204715
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=)	rs762375074
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter)	rs775200333
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=)	rs775200333
NM_000528.4(MAN2B1):c.1398G>T (p.Ala466=)	rs774396746
NM_000528.4(MAN2B1):c.1850A>G (p.Asp617Gly)	rs370382032
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)	rs80338680
NM_000528.4(MAN2B1):c.2267+8dup	rs572289342
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=)	rs1008745697
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs)	rs797044680
NM_000528.4(MAN2B1):c.2748C>T (p.Arg916=)	rs1184081650
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)	rs370803545
NM_000531.6(OTC):c.1020_1028del (p.Leu341_Thr343del)	rs2068592611
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter)	rs749908889
NM_000532.5(PCCB):c.467T>C (p.Ile156Thr)	rs1559998737
NM_000532.5(PCCB):c.517_518del (p.Leu173fs)	rs755776820
NM_000532.5(PCCB):c.655-2A>G	rs1553778865
NM_000532.5(PCCB):c.749A>G (p.His250Arg)	rs1933813724
NM_000536.4(RAG2):c.1391G>A (p.Arg464His)	rs147748696
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)	rs398123478
NM_000543.5(SMPD1):c.1783_1784del (p.Ala597fs)	rs1437508852
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs)	rs786204694
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs)	rs794727252
NM_000543.5(SMPD1):c.872G>A (p.Arg291His)	rs1803161
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter)	rs786204506
NM_000642.3(AGL):c.1263A>G (p.Arg421=)	rs1175506369
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer)	rs786204678
NM_000642.3(AGL):c.1829G>A (p.Arg610Lys)	rs781127120
NM_000642.3(AGL):c.18_19del (p.Gln6fs)	rs113994127
NM_000642.3(AGL):c.293+1del	rs777857395
NM_000642.3(AGL):c.294-2A>T	rs1057516868
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs)	rs771069887
NM_000642.3(AGL):c.344T>C (p.Val115Ala)	rs567992352
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs)	rs867341758
NM_000642.3(AGL):c.3911dup (p.Asn1304fs)	rs745757264
NM_000642.3(AGL):c.4221dup (p.Leu1408fs)	rs786204655
NM_000642.3(AGL):c.4259+5G>A	rs780504025
NM_000642.3(AGL):c.443G>A (p.Arg148Lys)	rs542885983
NM_000642.3(AGL):c.887T>G (p.Leu296Arg)	rs748142986
NM_000709.4(BCKDHA):c.782TCT[2] (p.Phe263del)	rs398123505
NM_000709.4(BCKDHA):c.939C>T (p.Ala313=)	rs2039381646
NM_000709.4(BCKDHA):c.978C>A (p.Ile326=)	rs398123514
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs)	rs1178393503
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs)	rs886041342
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)	rs72551322
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His)	rs199638075
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser)	rs72551323
NM_000784.4(CYP27A1):c.1477-2A>C	rs111570247
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His)	rs144701596
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro)	rs148417330
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)	rs765512351
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)	rs72551318
NM_000784.4(CYP27A1):c.819del (p.Asp273fs)	rs587778812
NM_000784.4(CYP27A1):c.844+1G>A	rs397515354
NM_001003722.2(GLE1):c.564G>C (p.Arg188=)	rs559370225
NM_001003722.2(GLE1):c.946C>A (p.Arg316=)	rs749236753
NM_001033855.3(DCLRE1C):c.406G>A (p.Asp136Asn)	rs1839765652
NM_001039958.2(MESP2):c.258_261del (p.Glu88fs)	rs1452984345
NM_001039958.2(MESP2):c.307G>T (p.Glu103Ter)	rs71647808
NM_001039958.2(MESP2):c.498C>A (p.Pro166=)	rs200336355
NM_001039958.2(MESP2):c.498C>G (p.Pro166=)	rs200336355
NM_001039958.2(MESP2):c.517G>A (p.Ala173Thr)	rs374604155
NM_001042432.2(CLN3):c.868G>T (p.Val290Leu)	rs369008702
NM_001079802.2(FKTN):c.1317_1318dup (p.Pro440fs)	rs886042778
NM_001079802.2(FKTN):c.528dup (p.His177fs)	rs1588112379
NM_001079802.2(FKTN):c.919C>G (p.Arg307Gly)	rs267606814
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn)	rs58447305
NM_001079866.2(BCS1L):c.821del (p.Pro274fs)	rs760559534
NM_001122769.3(LCA5):c.1769A>G (p.Asp590Gly)	rs771460783
NM_001126108.2(SLC12A3):c.1176C>T (p.Thr392=)	rs117440321
NM_001126108.2(SLC12A3):c.1763C>T (p.Ala588Val)	rs121909382
NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly)	rs200697179
NM_001126108.2(SLC12A3):c.56_57dup (p.Phe20fs)	rs758683818
NM_001126108.2(SLC12A3):c.741+8C>G	rs200257610
NM_001126108.2(SLC12A3):c.852+1G>A	rs2055084531
NM_001127671.2(LIFR):c.1245G>A (p.Pro415=)	rs139809889
NM_001127671.2(LIFR):c.143-37GT[12]	rs10637374
NM_001127671.2(LIFR):c.143-37GT[13]	rs10637374
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys)	rs3729751
NM_001127671.2(LIFR):c.3288C>T (p.Asn1096=)	rs3729751
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu)	rs546679270
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg)	rs886043900
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs)	rs766341386
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)	rs766016391
NM_001130987.2(DYSF):c.5785-7G>A	rs753861836
NM_001142800.2(EYS):c.-350G>A	rs886061687
NM_001142800.2(EYS):c.1211dup (p.Asn404fs)	rs764163418
NM_001142800.2(EYS):c.1299+5_1299+8del	rs1562140604
NM_001142800.2(EYS):c.1698T>C (p.Asn566=)	rs1156347961
NM_001142800.2(EYS):c.2000G>A (p.Arg667His)	rs549456693
NM_001142800.2(EYS):c.334G>A (p.Val112Ile)	rs112609906
NM_001142800.2(EYS):c.33G>C (p.Leu11=)	rs777361054
NM_001142800.2(EYS):c.359C>G (p.Thr120Arg)	rs12193967
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)	rs761238771
NM_001142800.2(EYS):c.4610_4611del (p.Arg1537fs)	rs886042613
NM_001142800.2(EYS):c.525_527del (p.Glu176del)	rs780433094
NM_001142800.2(EYS):c.5600C>T (p.Ser1867Phe)	rs542339299
NM_001142800.2(EYS):c.5802dup (p.Ile1935fs)	rs1455826633
NM_001142800.2(EYS):c.6079-24TC[8]	rs35395170
NM_001142800.2(EYS):c.6444A>G (p.Pro2148=)	rs556671009
NM_001142800.2(EYS):c.7260C>T (p.Gly2420=)	rs1770908773
NM_001142800.2(EYS):c.749-1G>C	rs368159852
NM_001142800.2(EYS):c.7579-11dup	rs1044534941
NM_001142800.2(EYS):c.8155_8156del (p.His2719fs)	rs764229134
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)	rs528919874
NM_001142800.2(EYS):c.9156T>C (p.Asn3052=)	rs1768354975
NM_001142800.2(EYS):c.9342TGT[1] (p.Val3116del)	rs536788112
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs)	rs782604758
NM_001164277.2(SLC37A4):c.611C>T (p.Ser204Phe)	rs567419206
NM_001164277.2(SLC37A4):c.891G>T (p.Gly297=)	rs1388277495
NM_001164508.2(NEB):c.10275G>A (p.Lys3425=)	rs1205545857
NM_001164508.2(NEB):c.10393A>G (p.Ile3465Val)	rs535926481
NM_001164508.2(NEB):c.10462C>T (p.Arg3488Cys)	rs765175171
NM_001164508.2(NEB):c.1074A>G (p.Lys358=)	rs2099709094
NM_001164508.2(NEB):c.11755G>A (p.Asp3919Asn)	rs201483656
NM_001164508.2(NEB):c.11755G>T (p.Asp3919Tyr)	rs201483656
NM_001164508.2(NEB):c.11806-1G>A	rs886041851
NM_001164508.2(NEB):c.12369C>T (p.Ile4123=)	rs1277282343
NM_001164508.2(NEB):c.12535-10C>T	rs2097760296
NM_001164508.2(NEB):c.12615C>T (p.His4205=)	rs1579048021
NM_001164508.2(NEB):c.12723G>A (p.Lys4241=)	rs772682280
NM_001164508.2(NEB):c.12873G>A (p.Lys4291=)	rs1578940609
NM_001164508.2(NEB):c.12999G>A (p.Thr4333=)	rs1384738774
NM_001164508.2(NEB):c.13056C>T (p.Ser4352=)	rs1468240932
NM_001164508.2(NEB):c.13218C>A (p.Thr4406=)	rs1553867144
NM_001164508.2(NEB):c.13236A>G (p.Ala4412=)	rs1578890458
NM_001164508.2(NEB):c.13327C>T (p.Leu4443=)	rs1578872999
NM_001164508.2(NEB):c.13477-7C>T	rs1328191142
NM_001164508.2(NEB):c.13785C>T (p.Ser4595=)	rs1578800572
NM_001164508.2(NEB):c.1434A>G (p.Glu478=)	rs2149351968
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3])	rs757726895
NM_001164508.2(NEB):c.17198G>A (p.Arg5733His)	rs371681892
NM_001164508.2(NEB):c.17491G>A (p.Val5831Met)	rs772168965
NM_001164508.2(NEB):c.17619C>T (p.Gly5873=)	rs767518298
NM_001164508.2(NEB):c.18064A>G (p.Ile6022Val)	rs574746662
NM_001164508.2(NEB):c.18408T>C (p.Tyr6136=)	rs757188494
NM_001164508.2(NEB):c.1900T>C (p.Leu634=)	rs1576526817
NM_001164508.2(NEB):c.19428+8C>A	rs773614835
NM_001164508.2(NEB):c.19912C>T (p.Arg6638Trp)	rs771483221
NM_001164508.2(NEB):c.2062C>G (p.Pro688Ala)	rs750276279
NM_001164508.2(NEB):c.2062C>T (p.Pro688Ser)	rs750276279
NM_001164508.2(NEB):c.21028T>C (p.Leu7010=)	rs750374820
NM_001164508.2(NEB):c.21332C>G (p.Ala7111Gly)	rs1279646895
NM_001164508.2(NEB):c.2155C>T (p.Pro719Ser)	rs376503299
NM_001164508.2(NEB):c.21859C>G (p.Arg7287Gly)	rs376072545
NM_001164508.2(NEB):c.22114A>T (p.Thr7372Ser)	rs750642580
NM_001164508.2(NEB):c.22132G>A (p.Val7378Ile)	rs764524918
NM_001164508.2(NEB):c.23050C>T (p.Arg7684Cys)	rs762019205
NM_001164508.2(NEB):c.23315A>G (p.His7772Arg)	rs776379234
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs)	rs1266535163
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs)	rs781667543
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs)	rs1344099907
NM_001164508.2(NEB):c.24486+10G>A	rs755064162
NM_001164508.2(NEB):c.24666del (p.Phe8222fs)	rs794727136
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs)	rs776059611
NM_001164508.2(NEB):c.24859C>T (p.Arg8287Trp)	rs200804762
NM_001164508.2(NEB):c.25390C>A (p.Pro8464Thr)	rs376984481
NM_001164508.2(NEB):c.25534G>A (p.Gly8512Ser)	rs751394716
NM_001164508.2(NEB):c.2822C>T (p.Ala941Val)	rs765478068
NM_001164508.2(NEB):c.2904A>G (p.Glu968=)	rs2099429615
NM_001164508.2(NEB):c.2987T>C (p.Ile996Thr)	rs753691207
NM_001164508.2(NEB):c.3127_3129dup (p.Asn1043dup)	rs1288870299
NM_001164508.2(NEB):c.3209C>G (p.Ala1070Gly)	rs371710158
NM_001164508.2(NEB):c.3255+1G>T	rs375628303
NM_001164508.2(NEB):c.3443C>A (p.Ala1148Glu)	rs200637566
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter)	rs1057517360
NM_001164508.2(NEB):c.426T>A (p.Asp142Glu)	rs200590080
NM_001164508.2(NEB):c.4507-3del	rs767772701
NM_001164508.2(NEB):c.4736C>T (p.Ala1579Val)	rs751602407
NM_001164508.2(NEB):c.4945_4947del (p.Tyr1649del)	rs770192528
NM_001164508.2(NEB):c.4978C>T (p.Pro1660Ser)	rs776231831
NM_001164508.2(NEB):c.508-6G>A	rs374227241
NM_001164508.2(NEB):c.5680A>G (p.Arg1894Gly)	rs150961139
NM_001164508.2(NEB):c.5828T>A (p.Leu1943Gln)	rs531692437
NM_001164508.2(NEB):c.585C>T (p.Ala195=)	rs374538366
NM_001164508.2(NEB):c.6078del (p.Lys2026fs)	rs1057516758
NM_001164508.2(NEB):c.6299G>A (p.Arg2100Gln)	rs752836728
NM_001164508.2(NEB):c.6554G>T (p.Gly2185Val)	rs373439650
NM_001164508.2(NEB):c.6629A>G (p.Asn2210Ser)	rs768864684
NM_001164508.2(NEB):c.7644A>G (p.Glu2548=)	rs916950454
NM_001164508.2(NEB):c.7983G>T (p.Trp2661Cys)	rs756956766
NM_001164508.2(NEB):c.8469G>A (p.Val2823=)	rs1574818802
NM_001164508.2(NEB):c.8718A>C (p.Arg2906Ser)	rs753718572
NM_001164508.2(NEB):c.8972T>G (p.Met2991Arg)	rs539367087
NM_001164508.2(NEB):c.9346G>A (p.Glu3116Lys)	rs193042896
NM_001164508.2(NEB):c.9465del (p.Ile3156fs)	rs1553939600
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn)	rs145770770
NM_001164508.2(NEB):c.9776G>A (p.Arg3259Gln)	rs200930670
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)	rs541666319
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro)	rs569734777
NM_001243279.3(ACSF3):c.1378dup (p.Val460fs)	rs751342087
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln)	rs144681140
NM_001243279.3(ACSF3):c.579G>A (p.Arg193=)	rs528237336
NM_001243279.3(ACSF3):c.667-9C>T	rs369865917
NM_001283009.2(RTEL1):c.2898G>A (p.Glu966=)	rs115464632
NM_001283009.2(RTEL1):c.900C>T (p.Ser300=)	rs146100165
NM_001352514.2(HLCS):c.1620+7del	rs140568778
NM_001352514.2(HLCS):c.1621-13_1621-10del	rs377641674
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)	rs119103231
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=)	rs767700692
NM_001352514.2(HLCS):c.737A>G (p.Tyr246Cys)	rs765150200
NM_001360.3(DHCR7):c.*161_*172del	rs141483210
NM_001360.3(DHCR7):c.1057del (p.Val353fs)	rs759720450
NM_001360.3(DHCR7):c.1348del (p.Arg450fs)	rs886042362
NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro)	rs201150384
NM_001360.3(DHCR7):c.355del (p.His119fs)	rs747827699
NM_001360.3(DHCR7):c.438T>G (p.Asn146Lys)	rs949177
NM_001360.3(DHCR7):c.461C>T (p.Thr154Met)	rs143312232
NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser)	rs146867923
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg)	rs121909764
NM_001360.3(DHCR7):c.782A>G (p.Glu261Gly)	rs1406131499
NM_001360.3(DHCR7):c.852C>A (p.Phe284Leu)	rs184297154
NM_001360.3(DHCR7):c.902A>G (p.His301Arg)	rs1565586067
NM_001360.3(DHCR7):c.906C>T (p.Phe302=)	rs80338858
NM_001360.3(DHCR7):c.907G>T (p.Gly303Trp)	rs142808899
NM_001360.3(DHCR7):c.964-1G>C	rs138659167
NM_001360.3(DHCR7):c.964-1G>T	rs138659167
NM_001365088.1(SLC12A6):c.1650-7T>C	rs752125669
NM_001369.3(DNAH5):c.10044C>T (p.Pro3348=)	rs369902800
NM_001369.3(DNAH5):c.10639C>G (p.Arg3547Gly)	rs747041428
NM_001369.3(DNAH5):c.1090-8T>C	rs16902950
NM_001369.3(DNAH5):c.11168T>A (p.Leu3723Gln)	rs1554033862
NM_001369.3(DNAH5):c.11623A>G (p.Met3875Val)	rs1044439678
NM_001369.3(DNAH5):c.11726G>A (p.Arg3909Gln)	rs761043906
NM_001369.3(DNAH5):c.11803T>A (p.Ser3935Thr)	rs145685491
NM_001369.3(DNAH5):c.12033+7A>C	rs77541151
NM_001369.3(DNAH5):c.12151A>G (p.Met4051Val)	rs138162689
NM_001369.3(DNAH5):c.12379C>T (p.Arg4127Cys)	rs148696723
NM_001369.3(DNAH5):c.12513C>A (p.Asp4171Glu)	rs547445590
NM_001369.3(DNAH5):c.12709G>T (p.Val4237Phe)	rs138045391
NM_001369.3(DNAH5):c.12779A>T (p.Asp4260Val)	rs1744309029
NM_001369.3(DNAH5):c.12936G>A (p.Glu4312=)	rs773285536
NM_001369.3(DNAH5):c.13364G>A (p.Gly4455Asp)	rs370684795
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter)	rs775696136
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu)	rs151080414
NM_001369.3(DNAH5):c.1475C>A (p.Thr492Lys)	rs189145014
NM_001369.3(DNAH5):c.1638C>A (p.Asp546Glu)	rs375037194
NM_001369.3(DNAH5):c.1884G>A (p.Leu628=)	rs534702284
NM_001369.3(DNAH5):c.2193C>T (p.Val731=)	rs766072810
NM_001369.3(DNAH5):c.2578-9_2578-7del	rs71600031
NM_001369.3(DNAH5):c.2717G>C (p.Ser906Thr)	rs540038644
NM_001369.3(DNAH5):c.3415G>C (p.Asp1139His)	rs1554085372
NM_001369.3(DNAH5):c.3598+2T>C	rs981267400
NM_001369.3(DNAH5):c.3640A>G (p.Met1214Val)	rs766505155
NM_001369.3(DNAH5):c.3835-3del	rs35398031
NM_001369.3(DNAH5):c.4972A>G (p.Ile1658Val)	rs535557021
NM_001369.3(DNAH5):c.5021G>T (p.Ser1674Ile)	rs1024785789
NM_001369.3(DNAH5):c.5281C>A (p.Arg1761=)	rs148891849
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter)	rs1273352530
NM_001369.3(DNAH5):c.6049C>T (p.Arg2017Trp)	rs143679999
NM_001369.3(DNAH5):c.6676A>G (p.Ile2226Val)	rs750936569
NM_001369.3(DNAH5):c.7525C>T (p.Arg2509Cys)	rs531393117
NM_001369.3(DNAH5):c.7579_7590del (p.Thr2527_Asp2530del)	rs1554058577
NM_001369.3(DNAH5):c.9125G>A (p.Arg3042Gln)	rs200839716
NM_001369.3(DNAH5):c.9230G>A (p.Arg3077Gln)	rs113742238
NM_001369.3(DNAH5):c.9230G>T (p.Arg3077Leu)	rs113742238
NM_001369.3(DNAH5):c.935T>G (p.Val312Gly)	rs762677340
NM_001369.3(DNAH5):c.9677C>T (p.Ala3226Val)	rs192262838
NM_001369.3(DNAH5):c.9751G>T (p.Ala3251Ser)	rs139293893
NM_001369.3(DNAH5):c.9907C>A (p.Pro3303Thr)	rs770166503
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro)	rs397514333
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)	rs397514348
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)	rs750363004
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)	rs587783005
NM_001370658.1(BTD):c.806C>T (p.Ala269Val)	rs1057520533
NM_001378454.1(ALMS1):c.11323C>T (p.Leu3775=)	rs771595125
NM_001378454.1(ALMS1):c.11765del (p.Asn3922fs)	rs1247974278
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs)	rs761292021
NM_001378454.1(ALMS1):c.1237+10C>G	rs1291450244
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly)	rs115444326
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs)	rs771459937
NM_001378454.1(ALMS1):c.30C>T (p.Gly10=)	rs1402244580
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup)	rs55889738
NM_001378454.1(ALMS1):c.4542C>T (p.Gly1514=)	rs763511170
NM_001378454.1(ALMS1):c.5310G>A (p.Gln1770=)	rs778267451
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu)	rs200925575
NM_001378454.1(ALMS1):c.6898del (p.Val2300fs)	rs1553404358
NM_001378454.1(ALMS1):c.6975A>G (p.Glu2325=)	rs1455390186
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs)	rs1370417967
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His)	rs45483395
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu)	rs45483395
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs)	rs770832663
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup)	rs559130985
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs)	rs1555683951
NM_001384474.1(LOXHD1):c.1894G>T (p.Gly632Cys)	rs35088381
NM_001384474.1(LOXHD1):c.2816AGA[3] (p.Lys942del)	rs142960762
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup)	rs759237437
NM_001384474.1(LOXHD1):c.4148C>T (p.Thr1383Met)	rs7244681
NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala)	rs563558722
NM_001399.5(EDA):c.1116C>G (p.Asn372Lys)	rs2020255486
NM_001673.5(ASNS):c.1084T>G (p.Phe362Val)	rs398122973
NM_001875.5(CPS1):c.1307G>A (p.Gly436Asp)	rs1553511785
NM_001875.5(CPS1):c.2143G>T (p.Val715Leu)	rs551261693
NM_001875.5(CPS1):c.2407C>T (p.Arg803Cys)	rs201716417
NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp)	rs772782772
NM_001875.5(CPS1):c.2475C>T (p.Pro825=)	rs751784059
NM_001875.5(CPS1):c.2945G>A (p.Gly982Asp)	rs121912595
NM_001875.5(CPS1):c.2959+8_2959+14del	rs765645129
NM_001875.5(CPS1):c.3141+15del	rs577707531
NM_001875.5(CPS1):c.731del (p.His243_Leu244insTer)	rs778346264
NM_001875.5(CPS1):c.74C>T (p.Ala25Val)	rs149570645
NM_001876.4(CPT1A):c.160G>T (p.Val54Leu)	rs147389938
NM_001876.4(CPT1A):c.1653C>T (p.Phe551=)	rs1314725177
NM_001876.4(CPT1A):c.1704C>T (p.Ala568=)	rs1855045353
NM_001876.4(CPT1A):c.2013C>A (p.Ser671=)	rs755323437
NM_001876.4(CPT1A):c.2235+9G>A	rs1946761066
NM_001876.4(CPT1A):c.535G>A (p.Val179Ile)	rs542856213
NM_001876.4(CPT1A):c.693+1G>A	rs1055176086
NM_002225.5(IVD):c.102_103del (p.Val35fs)	rs1057517379
NM_002225.5(IVD):c.148C>T (p.Arg50Cys)	rs34695403
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)	rs2229311
NM_002225.5(IVD):c.438A>G (p.Lys146=)	rs1007239169
NM_002225.5(IVD):c.467G>C (p.Gly156Ala)	rs1221254988
NM_002225.5(IVD):c.848A>G (p.Glu283Gly)	rs1314850102
NM_002225.5(IVD):c.870G>T (p.Gly290=)	rs1285915480
NM_002225.5(IVD):c.870dup (p.Pro291fs)	rs759159766
NM_002225.5(IVD):c.995G>T (p.Arg332Leu)	rs745464766
NM_002435.3(MPI):c.1086G>A (p.Leu362=)	rs905233208
NM_002435.3(MPI):c.1087del (p.Ala363fs)	rs2141209567
NM_002435.3(MPI):c.166dup (p.Arg56fs)	rs786204593
NM_002435.3(MPI):c.670+9A>T	rs7495739
NM_002435.3(MPI):c.678C>A (p.Ala226=)	rs199972529
NM_002435.3(MPI):c.845-10G>C	rs748693066
NM_002454.3(MTRR):c.1091_1093del (p.Cys364del)	rs796052001
NM_002454.3(MTRR):c.1998A>G (p.Gln666=)	rs767507060
NM_002454.3(MTRR):c.99A>C (p.Ala33=)	rs1747850617
NM_002485.5(NBN):c.1142del (p.Pro381fs)	rs587781969
NM_002485.5(NBN):c.1194A>G (p.Gln398=)	rs200046373
NM_002485.5(NBN):c.2071-4A>T	rs746994234
NM_002529.4(NTRK1):c.1196-9T>C	rs760602338
NM_002529.4(NTRK1):c.1521C>T (p.Arg507=)	rs901135479
NM_002529.4(NTRK1):c.1569G>A (p.Lys523=)	rs1647889781
NM_002529.4(NTRK1):c.1995G>A (p.Lys665=)	rs553270591
NM_002529.4(NTRK1):c.2084C>T (p.Pro695Leu)	rs121964868
NM_002529.4(NTRK1):c.2301G>A (p.Glu767=)	rs753397054
NM_002529.4(NTRK1):c.435G>C (p.Leu145=)	rs1647275742
NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu)	rs886042092
NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His)	rs386134223
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)	rs72552726
NM_003060.4(SLC22A5):c.40T>A (p.Trp14Arg)	rs756863825
NM_003060.4(SLC22A5):c.470C>T (p.Ser157Phe)	rs759925126
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp)	rs121908890
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val)	rs386134199
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del)	rs377767444
NM_003060.4(SLC22A5):c.797C>T (p.Pro266Leu)	rs538372785
NM_003384.3(VRK1):c.706G>A (p.Val236Met)	rs771364038
NM_003640.5(ELP1):c.1957T>C (p.Leu653=)	rs542412132
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln)	rs149845612
NM_003640.5(ELP1):c.3441A>G (p.Gln1147=)	rs779796058
NM_003659.4(AGPS):c.1152C>A (p.Val384=)	rs529236041
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro)	rs867525294
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=)	rs200087122
NM_003907.3(EIF2B5):c.1946T>C (p.Ile649Thr)	rs1064794256
NM_003907.3(EIF2B5):c.896G>A (p.Arg299His)	rs113994060
NM_003982.4(SLC7A7):c.1185_1188del (p.Ser396fs)	rs386833800
NM_003982.4(SLC7A7):c.499+9G>C	rs893853391
NM_004004.6(GJB2):c.176_191del (p.Gly59fs)	rs750188782
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter)	rs104894395
NM_004004.6(GJB2):c.334_335del (p.Lys112fs)	rs756484720
NM_004004.6(GJB2):c.35dup (p.Val13fs)	rs80338939
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)	rs104894401
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter)	rs111033420
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr)	rs1057517519
NM_004004.6(GJB2):c.632_633del (p.Cys211fs)	rs587783646
NM_004006.3(DMD):c.468A>C (p.Val156=)	rs886044031
NM_004453.4(ETFDH):c.1116+7C>T	rs748640706
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro)	rs387907170
NM_004453.4(ETFDH):c.1278G>A (p.Lys426=)	rs1284823413
NM_004453.4(ETFDH):c.1449G>A (p.Pro483=)	rs143873407
NM_004453.4(ETFDH):c.1469-8T>C	rs1774625470
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln)	rs534388496
NM_004453.4(ETFDH):c.1555T>C (p.Leu519=)	rs533097197
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly)	rs549150456
NM_004453.4(ETFDH):c.606+10GTTTT[2]	rs745580994
NM_004453.4(ETFDH):c.63T>C (p.Ile21=)	rs566605780
NM_004629.2(FANCG):c.1157C>G (p.Pro386Arg)	rs141147618
NM_004629.2(FANCG):c.1158dup (p.Ser387fs)	rs757418016
NM_004629.2(FANCG):c.511-6dup	rs376732298
NM_004629.2(FANCG):c.957G>A (p.Pro319=)	rs145092954
NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg)	rs386833864
NM_004646.4(NPHS1):c.139del (p.Ala47fs)	rs386833882
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp)	rs386833911
NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs)	rs386833921
NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser)	rs138173172
NM_004646.4(NPHS1):c.3250del (p.Val1084fs)	rs386833935
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)	rs386833935
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser)	rs143092783
NM_004646.4(NPHS1):c.515_517del (p.Thr172del)	rs386833947
NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter)	rs139598219
NM_004646.4(NPHS1):c.619del (p.Arg207fs)	rs778217926
NM_004646.4(NPHS1):c.710T>C (p.Leu237Pro)	rs373835033
NM_004937.3(CTNS):c.1029C>A (p.Ile343=)	rs147428183
NM_004937.3(CTNS):c.1082C>T (p.Pro361Leu)	rs560868487
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu)	rs546510242
NM_005373.3(MPL):c.1904C>T (p.Pro635Leu)	rs121913612
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr)	rs387906347
NM_005476.7(GNE):c.2086G>T (p.Val696Leu)	rs121908627
NM_005476.7(GNE):c.385C>T (p.Arg129Ter)	rs372872777
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr)	rs954192338
NM_005609.4(PYGM):c.1339A>C (p.Ile447Leu)	rs568496266
NM_005609.4(PYGM):c.1769-7T>C	rs2058357396
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del)	rs527236147
NM_005609.4(PYGM):c.2262del (p.Lys754fs)	rs398124210
NM_005609.4(PYGM):c.2382C>T (p.Asn794=)	rs540487525
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)	rs119103258
NM_005609.4(PYGM):c.425-2A>G	rs752851284
NM_005609.4(PYGM):c.517G>A (p.Gly173Arg)	rs141265458
NM_005609.4(PYGM):c.661-5C>G	rs75633423
NM_005609.4(PYGM):c.999+9C>T	rs183026465
NM_005709.4(USH1C):c.1220G>A (p.Gly407Glu)	rs143923730
NM_005726.6(TSFM):c.408G>A (p.Leu136=)	rs144109380
NM_005726.6(TSFM):c.53A>T (p.Tyr18Phe)	rs548510701
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del)	rs1297161027
NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser)	rs200137991
NM_005957.5(MTHFR):c.1750A>T (p.Lys584Ter)	rs1644092513
NM_005957.5(MTHFR):c.469C>A (p.Arg157=)	rs776195746
NM_005957.5(MTHFR):c.474A>T (p.Gly158=)	rs199476142
NM_006019.4(TCIRG1):c.117+4A>T	rs751881962
NM_006096.4(NDRG1):c.306C>A (p.Gly102=)	rs2233322
NM_006096.4(NDRG1):c.666C>A (p.Gly222=)	rs1432095364
NM_006096.4(NDRG1):c.906T>G (p.Ala302=)	rs572270834
NM_006261.5(PROP1):c.301_302del (p.Leu102fs)	rs193922688
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter)	rs80358262
NM_006432.5(NPC2):c.165C>T (p.Tyr55=)	rs2086712268
NM_006493.4(CLN5):c.162G>A (p.Pro54=)	rs754303449
NM_006493.4(CLN5):c.446T>C (p.Leu149Pro)	rs386833976
NM_006623.4(PHGDH):c.1078+10G>T	rs374994783
NM_006623.4(PHGDH):c.519G>A (p.Gly173=)	rs754326499
NM_007259.5(VPS45):c.1371+9A>T	rs368568806
NM_007259.5(VPS45):c.702C>T (p.Ala234=)	rs782301145
NM_012144.4(DNAI1):c.1063+1G>A	rs1268770869
NM_012144.4(DNAI1):c.1204G>A (p.Gly402Ser)	rs746647838
NM_012144.4(DNAI1):c.1599C>A (p.Leu533=)	rs150785761
NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr)	rs368248592
NM_012144.4(DNAI1):c.1676G>A (p.Cys559Tyr)	rs1335386227
NM_012144.4(DNAI1):c.22G>T (p.Ala8Ser)	rs11547035
NM_012203.2(GRHPR):c.404+3_404+6del	rs180177309
NM_012203.2(GRHPR):c.666C>G (p.Thr222=)	rs146227450
NM_012203.2(GRHPR):c.866_867del (p.Val289fs)	rs180177321
NM_012243.3(SLC35A3):c.516A>G (p.Gln172=)	rs1282648211
NM_012243.3(SLC35A3):c.888-10T>A	rs750539187
NM_012434.5(SLC17A5):c.1278G>T (p.Leu426=)	rs1167569087
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)	rs386833994
NM_012434.5(SLC17A5):c.819+1G>A	rs1057517028
NM_013339.4(ALG6):c.634dup (p.Cys212fs)	rs879133727
NM_014049.5(ACAD9):c.1331C>T (p.Ala444Val)	rs549861940
NM_014049.5(ACAD9):c.1675C>A (p.Arg559Ser)	rs138871762
NM_014049.5(ACAD9):c.1798_1801del (p.Lys600fs)	rs917547961
NM_014049.5(ACAD9):c.359del (p.Phe120fs)	rs863224844
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro)	rs115532916
NM_014140.4(SMARCAL1):c.2427+1G>A	rs1559138455
NM_014140.4(SMARCAL1):c.960C>T (p.Ala320=)	rs2066513
NM_014140.4(SMARCAL1):c.961G>A (p.Gly321Ser)	rs371378288
NM_014244.5(ADAMTS2):c.119CCG[5] (p.Ala43dup)	rs1174228917
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=)	rs41285549
NM_014244.5(ADAMTS2):c.183C>G (p.Pro61=)	rs375775300
NM_014244.5(ADAMTS2):c.1869C>T (p.Arg623=)	rs376058580
NM_014244.5(ADAMTS2):c.1977C>T (p.Cys659=)	rs758599662
NM_014244.5(ADAMTS2):c.2015G>T (p.Arg672Leu)	rs200806292
NM_014244.5(ADAMTS2):c.3012C>G (p.Thr1004=)	rs571054777
NM_014244.5(ADAMTS2):c.71CGC[4] (p.Pro26dup)	rs763392299
NM_014244.5(ADAMTS2):c.80_100dup (p.Leu27_Pro33dup)	rs1064794627
NM_014249.4(NR2E3):c.767C>T (p.Ala256Val)	rs377257254
NM_014252.4(SLC25A15):c.564C>G (p.Phe188Leu)	rs141028076
NM_014297.5(ETHE1):c.-62C>G	rs114033490
NM_014297.5(ETHE1):c.378G>T (p.Ala126=)	rs138427304
NM_014297.5(ETHE1):c.79C>A (p.Gln27Lys)	rs749803238
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu)	rs144179865
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)	rs565203731
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs)	rs1057516365
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser)	rs370655945
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)	rs752059006
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)	rs537408260
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala)	rs556248979
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs)	rs1555251539
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)	rs786204750
NM_014363.6(SACS):c.8022T>C (p.Phe2674=)	rs34928783
NM_014844.5(TECPR2):c.1397AGA[5] (p.Lys471del)	rs572609303
NM_014844.5(TECPR2):c.1397AGA[7] (p.Lys471dup)	rs572609303
NM_014844.5(TECPR2):c.1872G>A (p.Ala624=)	rs145129878
NM_014844.5(TECPR2):c.1944_1947del (p.Thr649fs)	rs1595123894
NM_014844.5(TECPR2):c.2578+10CCCGCTCCCTGCT[3]	rs3831019
NM_014844.5(TECPR2):c.3456C>T (p.Ser1152=)	rs199827410
NM_014844.5(TECPR2):c.3474G>T (p.Ser1158=)	rs376646346
NM_014844.5(TECPR2):c.423A>G (p.Lys141=)	rs756199626
NM_014844.5(TECPR2):c.726A>T (p.Leu242=)	rs748794723
NM_015166.4(MLC1):c.1052_1053insCGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGC (p.Val354_Ala355insSerGlyLeuTrpGlyGlyGlyAlaGlyGluVal)	rs745656804
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu)	rs80358242
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer)	rs267607236
NM_015166.4(MLC1):c.654C>A (p.Asn218Lys)	rs41302601
NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys)	rs200895671
NM_015506.3(MMACHC):c.565del (p.Arg189fs)	rs1257204721
NM_015506.3(MMACHC):c.603T>C (p.Arg201=)	rs398124294
NM_015506.3(MMACHC):c.643T>C (p.Tyr215His)	rs755843695
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg)	rs564280688
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)	rs201025783
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu)	rs201025783
NM_015702.3(MMADHC):c.735T>G (p.Thr245=)	rs530553915
NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter)	rs751254522
NM_017739.4(POMGNT1):c.1895+1G>A	rs386834024
NM_017739.4(POMGNT1):c.593del (p.Ser198fs)	rs386834031
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)	rs386834044
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)	rs753112330
NM_018941.4(CLN8):c.234A>G (p.Thr78=)	rs1450867136
NM_018941.4(CLN8):c.648C>T (p.Phe216=)	rs564074916
NM_019098.5(CNGB3):c.339-10dup	rs200792506
NM_019098.5(CNGB3):c.494-11dup	rs36008065
NM_020166.5(MCCC1):c.1554G>A (p.Lys518=)	rs563586657
NM_020166.5(MCCC1):c.1570G>A (p.Asp524Asn)	rs200031275
NM_020166.5(MCCC1):c.231G>A (p.Ala77=)	rs144230304
NM_020166.5(MCCC1):c.300C>G (p.Pro100=)	rs747409426
NM_020320.5(RARS2):c.1A>G (p.Met1Val)	rs774923951
NM_020320.5(RARS2):c.726A>G (p.Gln242=)	rs145499324
NM_020320.5(RARS2):c.888G>A (p.Thr296=)	rs145189950
NM_020320.5(RARS2):c.888G>C (p.Thr296=)	rs145189950
NM_020533.3(MCOLN1):c.1032G>A (p.Leu344=)	rs371345093
NM_020533.3(MCOLN1):c.1047dup (p.Phe350fs)	rs1057516904
NM_020533.3(MCOLN1):c.1077C>T (p.Val359=)	rs200417975
NM_020533.3(MCOLN1):c.1219TTC[1] (p.Phe408del)	rs797044817
NM_020533.3(MCOLN1):c.204G>A (p.Leu68=)	rs1481445686
NM_020533.3(MCOLN1):c.777+12dup	rs563339019
NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter)	rs147903984
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr)	rs886043524
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg)	rs119103221
NM_023036.6(DNAI2):c.123C>T (p.Phe41=)	rs542439989
NM_023036.6(DNAI2):c.1644C>T (p.Ala548=)	rs9908476
NM_023036.6(DNAI2):c.685T>G (p.Ser229Ala)	rs576683556
NM_023036.6(DNAI2):c.701G>A (p.Gly234Asp)	rs897911822
NM_024301.5(FKRP):c.1141dup (p.Ala381fs)	rs754403441
NM_024312.5(GNPTAB):c.1155A>C (p.Ser385=)	rs754258764
NM_024312.5(GNPTAB):c.1581del (p.Cys528fs)	rs36007394
NM_024312.5(GNPTAB):c.2904A>C (p.Glu968Asp)	rs555336070
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val)	rs34946266
NM_024312.5(GNPTAB):c.616_619del (p.Thr206fs)	rs281865024
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)	rs768443448
NM_024649.5(BBS1):c.223_224del (p.Leu75fs)	rs1057516451
NM_024685.4(BBS10):c.1091del (p.Asn364fs)	rs727503818
NM_024685.4(BBS10):c.1158G>A (p.Leu386=)	rs138702315
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)	rs375413604
NM_024685.4(BBS10):c.1684T>C (p.Leu562=)	rs111773727
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter)	rs1565809409
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)	rs775950661
NM_024685.4(BBS10):c.728_731del (p.Lys243fs)	rs786204671
NM_024685.4(BBS10):c.909_912del (p.Ser303fs)	rs780059308
NM_024996.7(GFM1):c.56C>T (p.Ala19Val)	rs567086019
NM_025114.4(CEP290):c.180+1G>A	rs758593134
NM_025114.4(CEP290):c.442-11del	rs199511358
NM_025114.4(CEP290):c.442-22dup	rs199511358
NM_025216.3(WNT10A):c.1003G>A (p.Asp335Asn)	rs545956598
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)	rs193922710
NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys)	rs560910758
NM_031885.5(BBS2):c.661del (p.Leu221fs)	rs770258677
NM_032520.5(GNPTG):c.11G>A (p.Gly4Glu)	rs574801192
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del)	rs193302849
NM_032520.5(GNPTG):c.607dup (p.Gln203fs)	rs756225251
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1])	rs397517465
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs)	rs748086016
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)	rs113363047
NM_033159.4(HYAL1):c.454C>T (p.Arg152Trp)	rs587774476
NM_033305.3(VPS13A):c.6039C>A (p.Thr2013=)	rs528628591
NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=)	rs143259810
NM_033305.3(VPS13A):c.7155+14dup	rs747383490
NM_033380.3(COL4A5):c.1032+17del	rs761615270
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)	rs104886189
NM_052845.4(MMAB):c.378G>A (p.Ser126=)	rs749452007
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln)	rs773059864
NM_052845.4(MMAB):c.563_577del (p.Val188_Ala192del)	rs1555274496
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup)	rs1555274496
NM_052845.4(MMAB):c.576C>T (p.Ala192=)	rs757562796
NM_052845.4(MMAB):c.57C>T (p.Arg19=)	rs10774774
NM_054012.4(ASS1):c.1166C>T (p.Thr389Ile)	rs1474017319
NM_054012.4(ASS1):c.460_467del (p.Phe154fs)	rs1004492719
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu)	rs376371866
NM_054012.4(ASS1):c.814C>T (p.Arg272Cys)	rs762387914
NM_133259.4(LRPPRC):c.135C>T (p.Ala45=)	rs886056061
NM_133259.4(LRPPRC):c.346+9A>C	rs754438818
NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=)	rs372394177
NM_138694.4(PKHD1):c.10411G>A (p.Val3471Ile)	rs553752644
NM_138694.4(PKHD1):c.10414T>G (p.Cys3472Gly)	rs1772510920
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs)	rs771623148
NM_138694.4(PKHD1):c.10536A>G (p.Glu3512=)	rs1581893486
NM_138694.4(PKHD1):c.10737A>G (p.Val3579=)	rs555442845
NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu)	rs573293029
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter)	rs769559267
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe)	rs1385935333
NM_138694.4(PKHD1):c.11507-7G>A	rs373438297
NM_138694.4(PKHD1):c.1233+1G>A	rs886061623
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del)	rs1554217913
NM_138694.4(PKHD1):c.1255G>A (p.Val419Ile)	rs138672830
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu)	rs750730042
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser)	rs141790557
NM_138694.4(PKHD1):c.1980C>G (p.Cys660Trp)	rs1554214097
NM_138694.4(PKHD1):c.208C>A (p.Pro70Thr)	rs781485593
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs)	rs1554212326
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=)	rs9474136
NM_138694.4(PKHD1):c.2463C>T (p.Ala821=)	rs9474136
NM_138694.4(PKHD1):c.2934G>A (p.Gln978=)	rs536715802
NM_138694.4(PKHD1):c.3024C>T (p.Ala1008=)	rs559684657
NM_138694.4(PKHD1):c.3072G>A (p.Val1024=)	rs1581909859
NM_138694.4(PKHD1):c.3645C>T (p.Ser1215=)	rs1581815094
NM_138694.4(PKHD1):c.3828G>A (p.Arg1276=)	rs1373102999
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)	rs1057517273
NM_138694.4(PKHD1):c.402G>A (p.Ala134=)	rs200992930
NM_138694.4(PKHD1):c.4161G>C (p.Val1387=)	rs1802043497
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu)	rs1581809655
NM_138694.4(PKHD1):c.449-15TTC[2]	rs545812620
NM_138694.4(PKHD1):c.449-6A>T	rs200204976
NM_138694.4(PKHD1):c.4844C>T (p.Thr1615Met)	rs147529495
NM_138694.4(PKHD1):c.5133C>G (p.Ala1711=)	rs144841026
NM_138694.4(PKHD1):c.534G>A (p.Val178=)	rs1226545035
NM_138694.4(PKHD1):c.5411del (p.Arg1804fs)	rs1554194574
NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter)	rs1554194511
NM_138694.4(PKHD1):c.5478G>C (p.Ala1826=)	rs137925439
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs)	rs1057516804
NM_138694.4(PKHD1):c.6149G>C (p.Cys2050Ser)	rs551783157
NM_138694.4(PKHD1):c.6333-8_6333-7del	rs138161138
NM_138694.4(PKHD1):c.6641A>G (p.His2214Arg)	rs778124617
NM_138694.4(PKHD1):c.6756G>A (p.Leu2252=)	rs368194577
NM_138694.4(PKHD1):c.6924C>G (p.Ala2308=)	rs373795139
NM_138694.4(PKHD1):c.7173G>C (p.Leu2391=)	rs765985090
NM_138694.4(PKHD1):c.7866C>T (p.Thr2622=)	rs752563887
NM_138694.4(PKHD1):c.786A>G (p.Leu262=)	rs570064466
NM_138694.4(PKHD1):c.8174-18dup	rs566540835
NM_138694.4(PKHD1):c.8648TAG[1] (p.Val2884del)	rs1554221478
NM_138694.4(PKHD1):c.904G>A (p.Val302Met)	rs779418460
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr)	rs1288017883
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=)	rs745523374
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys)	rs759568939
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)	rs763301637
NM_152564.5(VPS13B):c.10065G>A (p.Ala3355=)	rs61753726
NM_152564.5(VPS13B):c.11244G>A (p.Pro3748=)	rs375229257
NM_152564.5(VPS13B):c.11244G>C (p.Pro3748=)	rs375229257
NM_152564.5(VPS13B):c.11510_11513dup (p.Gly3839fs)	rs1588811810
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs)	rs1180933570
NM_152564.5(VPS13B):c.2048A>T (p.Gln683Leu)	rs372585253
NM_152564.5(VPS13B):c.2433A>T (p.Ile811=)	rs540795071
NM_152564.5(VPS13B):c.292-2A>G	rs386834079
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser)	rs563705133
NM_152564.5(VPS13B):c.5502G>T (p.Ser1834=)	rs143115716
NM_152564.5(VPS13B):c.5528A>T (p.Glu1843Val)	rs141211386
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs)	rs386834098
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs)	rs886041323
NM_152564.5(VPS13B):c.6672A>G (p.Gln2224=)	rs2130339813
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr)	rs120074155
NM_152564.5(VPS13B):c.874T>G (p.Phe292Val)	rs779095081
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del)	rs549810522
NM_152564.5(VPS13B):c.8995-2A>G	rs1554569259
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs)	rs180177329
NM_152564.5(VPS13B):c.9331-1G>T	rs386834119
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs)	rs886041185
NM_153006.3(NAGS):c.1097-2A>G	rs2049106256
NM_153006.3(NAGS):c.1268+2T>C	rs202041339
NM_153006.3(NAGS):c.1398G>A (p.Arg466=)	rs369492320
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)	rs764397417
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)	rs748523193
NM_153717.3(EVC):c.752dup (p.Lys252fs)	rs1553871792
NM_172250.3(MMAA):c.269A>T (p.Tyr90Phe)	rs148404005
NM_182760.4(SUMF1):c.16C>T (p.Leu6=)	rs774160105
NM_182760.4(SUMF1):c.28T>C (p.Cys10Arg)	rs776028375
NM_182760.4(SUMF1):c.954+7A>G	rs560003466
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)	rs62645752
NM_201548.5(CERKL):c.1073+3_1073+6del	rs1553513437
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser)	rs569826109
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)	rs772808534
NM_206933.4(USH2A):c.10388-2A>G	rs1553261479
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs)	rs779791079
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter)	rs988693758
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg)	rs145830318
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)	rs483353054
NM_206933.4(USH2A):c.486-1G>C	rs876657730
NM_206933.4(USH2A):c.5858-1G>A	rs397518023
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg)	rs373604102
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)	rs1571783742
NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter)	rs1269642027
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs)	rs536593247
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)	rs397518048
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)	rs1388040238
NM_213653.4(HJV):c.345C>T (p.Ile115=)	rs142575526
NR_003051.3(RMRP):n.-22_-3dup	rs1554651411
NR_003051.3(RMRP):n.-24_-10dup	rs727502776
NR_003051.4(RMRP):n.97_98dup	rs1340624774