Variants from Counsyl with conflicting interpretations

Minimum review status of the submission from Counsyl:		Collection method of the submission from Counsyl:
Minimum review status of the other submission:		Collection method of the other submission:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)

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

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
7216	5422	5	4820	1747	3	1462	7648

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
Counsyl		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	affects	association
	pathogenic	4	249	37	2	0	1	0
	likely pathogenic	3709	0	133	4	1	0	1
	uncertain significance	659	1087	1	1040	384	0	0
	likely benign	9	6	398	0	761	0	0
	benign	3	3	88	101	0	0	0
	other	0	0	0	1	0	0	0

Submitter to submitter summary #

Total submitters: 408

Download table as spreadsheet

Submitter	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
Labcorp Genetics (formerly Invitae), Labcorp	3046	0	2477	545	1	649	3672
Natera, Inc.	2012	0	1364	70	0	478	1912
Baylor Genetics	1822	0	1290	9	0	437	1736
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	678	0	901	1	0	305	1207
Myriad Genetics, Inc.	1166	0	516	508	0	64	1088
Fulgent Genetics, Fulgent Genetics	1339	0	587	5	0	282	874
OMIM	290	4	313	6	0	85	408
Genome-Nilou Lab	942	0	276	32	0	88	396
Illumina Laboratory Services, Illumina	549	0	167	191	0	19	377
Revvity Omics, Revvity	372	0	289	2	0	63	354
Mendelics	514	0	149	116	1	57	323
Sharing Clinical Reports Project (SCRP)	448	0	131	145	0	4	280
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	445	0	200	31	0	2	233
3billion	214	0	154	3	0	43	200
Breast Cancer Information Core (BIC) (BRCA2)	367	0	60	119	0	13	192
Breast Cancer Information Core (BIC) (BRCA1)	227	0	33	106	0	16	155
All of Us Research Program, National Institutes of Health	581	0	70	65	0	17	152
Ambry Genetics	284	0	68	42	0	29	139
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	128	0	86	4	0	44	134
Neuberg Centre For Genomic Medicine, NCGM	157	0	103	1	0	30	134
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	86	0	103	2	0	26	131
Department of Pathology and Laboratory Medicine, Sinai Health System	225	0	69	34	0	27	130
Institute of Human Genetics, University of Leipzig Medical Center	161	0	85	9	0	34	128
KCCC/NGS Laboratory, Kuwait Cancer Control Center	255	0	115	6	0	2	123
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	142	0	88	6	0	16	110
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	94	0	77	1	0	15	93
ClinGen PAH Variant Curation Expert Panel	83	0	59	1	0	32	92
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel	50	0	75	0	0	14	89
Molecular Pathology, Peter Maccallum Cancer Centre	177	0	37	47	0	4	88
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	45	0	54	1	0	31	86
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	239	0	80	0	0	1	81
BRCAlab, Lund University	182	0	60	18	0	1	79
Juno Genomics, Hangzhou Juno Genomics, Inc	77	0	54	0	0	22	76
Leiden Open Variation Database	68	0	62	1	0	12	75
Johns Hopkins Genomics, Johns Hopkins University	72	0	35	9	0	27	71
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	130	0	57	12	0	0	69
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	92	0	61	0	0	8	69
First Genomix Gene Laboratory, Genetic Diagnostics Department	36	0	38	0	0	28	66
Variantyx, Inc.	103	0	56	0	0	10	66
CFTR2	75	0	53	1	0	4	58
Michigan Medical Genetics Laboratories, University of Michigan	126	0	49	6	0	0	55
Clinical Biochemistry Laboratory, Health Services Laboratory	15	0	36	2	0	11	49
Color Diagnostics, LLC DBA Color Health	86	0	33	10	0	6	49
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	110	0	46	3	0	0	49
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	16	0	33	7	0	8	48
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	34	0	33	0	0	12	45
Dasa	63	0	33	7	0	4	44
Genome Diagnostics Laboratory, University Medical Center Utrecht	85	0	37	6	0	0	43
MGZ Medical Genetics Center	113	0	34	0	0	9	43
CFTR-France	47	0	34	1	0	5	40
Sema4, Sema4	28	0	23	16	0	1	40
Centre for Mendelian Genomics, University Medical Centre Ljubljana	52	0	32	2	0	3	37
Genetic Services Laboratory, University of Chicago	46	0	28	0	0	6	34
Genetics and Molecular Pathology, SA Pathology	77	0	26	3	0	5	34
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	74	0	32	0	0	2	34
Department of Medical and Surgical Sciences, University of Bologna	11	0	5	27	0	1	33
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	35	0	26	0	0	5	31
Pathway Genomics	53	0	27	2	0	0	29
Genomic Research Center, Shahid Beheshti University of Medical Sciences	39	0	25	0	0	4	28
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	17	0	22	0	0	6	28
ClinGen TP53 Variant Curation Expert Panel, ClinGen	7	0	4	22	0	0	26
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	78	0	20	0	0	6	26
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	182	0	15	6	0	5	26
CENTOGENE GmbH and LLC - Guiding Precision Medicine	25	0	19	0	0	6	25
GeneReviews	206	0	18	0	0	7	25
ClinGen ACADVL Variant Curation Expert Panel, ClinGen	43	0	15	3	0	6	24
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto	39	0	5	19	0	0	24
Institute of Human Genetics Munich, TUM University Hospital	21	0	18	0	0	6	24
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences	10	0	16	0	0	7	23
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	9	0	19	0	0	4	23
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	68	0	20	0	0	2	22
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	11	0	17	0	0	5	22
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	22	0	18	0	0	3	21
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	31	0	18	0	0	1	19
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research	15	0	16	0	0	3	19
Department of Human Genetics, Hannover Medical School	21	0	16	0	0	2	18
Knight Diagnostic Laboratories, Oregon Health and Sciences University	13	0	12	3	0	3	18
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	19	0	11	1	0	5	17
Genesis Genomics	32	0	17	0	0	0	17
Dubai Health Genomic Medicine Center, Dubai Health	11	0	9	1	0	5	15
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	18	0	10	1	0	4	15
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	9	0	13	0	0	2	15
Molecular Genetics Laboratory, Institute for Ophthalmic Research	4	0	13	0	0	2	15
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	12	0	2	5	0	8	15
University of Washington Department of Laboratory Medicine, University of Washington	10	0	1	9	0	5	15
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre	28	0	8	6	0	0	14
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	46	0	10	3	0	1	14
Laboratory of Experimental Gene Therapy of Hereditary Metabolic Diseases, Research Centre for Medical Genetics	1	0	12	0	0	2	14
Lildballe Lab, Aarhus University Hospital	13	0	9	0	0	5	14
New York Genome Center	33	0	13	0	0	1	14
Otogenetics	3	0	11	0	0	3	14
Centre for Inherited Metabolic Diseases, Karolinska University Hospital	3	0	9	0	0	4	13
Department of Medical Genetics, Oslo University Hospital	50	0	13	0	0	0	13
Genomics England Pilot Project, Genomics England	15	0	11	0	0	1	12
Lifecell International Pvt. Ltd	14	0	10	0	0	2	12
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	0	0	11	0	1	12
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust	5	0	7	0	0	5	12
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic	1	0	7	0	0	5	12
True Health Diagnostics	16	0	10	2	0	0	12
Institute of Immunology and Genetics Kaiserslautern	18	0	10	0	0	1	11
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen	19	0	5	0	0	5	10
Department of Molecular Diagnostics, Institute of Oncology Ljubljana	30	0	10	0	0	0	10
Genome Diagnostics Laboratory, The Hospital for Sick Children	25	0	8	0	0	2	10
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	15	0	5	2	0	3	10
Kariminejad - Najmabadi Pathology & Genetics Center	17	0	8	0	0	2	10
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul	10	0	4	0	0	5	9
Baumgartner lab, University Children's Hospital Zurich	0	0	5	0	0	4	9
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel	3	0	2	6	0	1	9
Daryl Scott Lab, Baylor College of Medicine	7	0	8	0	0	1	9
Department of Genetics, Sultan Qaboos University Hospital	14	0	6	2	0	1	9
Division of Human Genetics, Children's Hospital of Philadelphia	9	0	6	0	0	3	9
Institute of Human Genetics, Heidelberg University	4	0	5	0	0	4	9
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	6	0	5	0	0	4	9
Suma Genomics	6	0	6	0	0	3	9
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics	2	0	9	0	0	0	9
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	7	0	5	0	0	3	8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	4	0	6	0	0	2	8
Center for Human Genetics, Inc, Center for Human Genetics, Inc	13	0	3	5	0	0	8
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	8	0	6	0	0	2	8
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital	3	0	5	1	0	2	8
GeneDx	19	0	7	1	0	0	8
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam	7	0	6	0	0	2	8
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital	8	0	4	0	0	4	8
Pars Genome Lab	14	0	2	4	0	2	8
Quest Diagnostics Nichols Institute San Juan Capistrano	26	0	7	1	0	0	8
SIB Swiss Institute of Bioinformatics	14	0	8	0	0	0	8
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	19	0	6	0	0	2	8
ClinGen Hearing Loss Variant Curation Expert Panel	3	0	2	2	0	3	7
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics, Hospital Universitario Hospital La Paz	1	0	4	0	0	3	7
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	24	0	6	1	0	0	7
Molecular Genetics, Royal Melbourne Hospital	12	0	6	0	0	1	7
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health	6	0	7	0	0	0	7
Ocular Genomics Institute, Massachusetts Eye and Ear	22	0	6	0	0	1	7
SingHealth Duke-NUS Institute of Precision Medicine	11	0	3	0	0	4	7
Arcensus	8	0	6	0	0	0	6
CSER _CC_NCGL, University of Washington	13	0	1	4	0	1	6
Clinical Genomics Laboratory, Washington University in St. Louis	11	0	4	0	0	2	6
Department of Medical Genetics, University Hospital of North Norway	7	0	5	1	0	0	6
Giacomini Lab, University of California, San Francisco	4	0	2	0	0	4	6
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	4	0	5	0	0	1	6
Intergen Genetics and Rare Diseases Diagnosis Center	7	0	5	0	0	1	6
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	0	0	1	0	0	5	6
OLLIN Analises Genomicas, OLLIN	12	0	2	0	0	4	6
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	7	0	3	0	0	3	6
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	7	0	5	0	0	1	6
Undiagnosed Diseases Network, NIH	4	0	4	0	0	2	6
Athena Diagnostics	7	0	5	0	0	0	5
Breakthrough Genomics, Breakthrough Genomics	3	0	4	0	0	1	5
ClinGen Leber Congenital Amaurosis/early Onset Retinal Dystrophy Variant Curation Expert Panel, ClinGen	7	0	3	0	0	2	5
Department of Pediatrics, Memorial Sloan Kettering Cancer Center	6	0	5	0	0	0	5
Genome Diagnostics Laboratory, Amsterdam University Medical Center	17	0	4	1	0	0	5
Hereditary Research Laboratory, Bethlehem University	0	0	5	0	0	0	5
Institute of Human Genetics, Medical University Innsbruck	14	0	5	0	0	0	5
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	1	0	1	4	0	0	5
Laboratory of Prof. Karen Avraham, Tel Aviv University	1	0	1	0	0	4	5
Medical and Scientific Branch, Hong Kong Genome Institute	2	0	4	0	0	1	5
Molecular Endocrinology Laboratory, Christian Medical College	14	0	2	2	0	1	5
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	5	0	3	0	0	2	5
NIHR Bioresource Rare Diseases, University of Cambridge	6	0	2	0	0	3	5
Vasylyeva lab, Texas Tech University Health Sciences Center	2	0	5	0	0	0	5
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital	5	0	2	0	0	2	4
Center of Genomic medicine, Geneva, University Hospital of Geneva	6	0	2	0	0	2	4
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	4	0	3	0	0	1	4
ClinGen VHL Variant Curation Expert Panel, ClinGen	2	0	2	2	0	0	4
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	4	0	3	0	0	1	4
Genomics And Bioinformatics Analysis Resource, Columbia University	3	0	3	0	0	1	4
Human Genetics Bochum, Ruhr University Bochum	12	0	3	0	0	1	4
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	7	0	2	0	0	2	4
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA	6	0	2	0	0	2	4
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino"	4	0	3	0	0	1	4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	7	0	3	0	0	1	4
Laboratorio de Biologia Molecular/Medicina Genomica - IFF/Fiocruz, Instituto Fernandes Figueira, Fundacao Oswaldo Cruz	0	0	4	0	0	0	4
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	7	0	2	0	0	2	4
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,	3	0	1	0	0	3	4
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	6	0	2	0	0	2	4
Reproductive Health Research and Development, BGI Genomics	3	0	2	0	0	2	4
University of Washington Center for Mendelian Genomics, University of Washington	0	0	2	0	0	2	4
Yale Center for Mendelian Genomics, Yale University	1	0	3	0	0	1	4
Biochemistry Department, Nishtar Medical University	0	0	2	0	0	1	3
CeGaT Center for Human Genetics Tuebingen	3	0	2	1	0	0	3
Center of Human Genetics, Hôpital Erasme	2	0	3	0	0	0	3
ClinGen X-linked Inherited Retinal Disease Variant Curation Expert Panel, ClinGen	1	0	2	0	0	1	3
Clinical Genetics Laboratory, Skane University Hospital Lund	7	0	2	0	0	1	3
Clinical Genomics Laboratory, Stanford Medicine	6	0	2	0	0	1	3
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	6	1	0	0	0	2	3
Department of Otolaryngology Head and Neck Surgery, Hainan Hospital of the Chinese People’s Liberation Army General Hospital	0	0	3	0	0	0	3
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea	3	0	3	0	0	0	3
Division of Medical Genetics, University of Washington	26	0	2	0	0	1	3
Elsea Laboratory, Baylor College of Medicine	2	0	2	0	0	1	3
Eurofins-Biomnis	1	0	2	0	0	1	3
GeneKor MSA	5	0	3	0	0	0	3
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital	2	0	3	0	0	0	3
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences	0	0	3	0	0	0	3
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	7	0	2	1	0	0	3
Institute of Human Genetics, University Hospital of Duesseldorf	2	0	3	0	0	0	3
King Laboratory, University of Washington	10	0	1	0	0	2	3
Laboratoire Génétique Moléculaire, CHRU TOURS	1	0	1	0	0	2	3
Laboratorio de I+D, Fundación Centro Médico de Asturias	1	0	2	0	0	1	3
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez	1	0	3	0	0	0	3
Leeds Amelogenesis Imperfecta Research Group, University of Leeds	0	0	0	0	0	3	3
Molecular Therapies Laboratory, Murdoch University	0	0	3	0	0	0	3
National Newborn Screening Laboratory, Hospital Nacional de Niños	1	0	3	0	0	0	3
Next Generation Genetic Polyclinic	0	0	3	0	0	0	3
Precision Medicine Center, Zhengzhou University	4	0	0	0	0	3	3
Shanghain Institute for Pediatric Research	0	0	3	0	0	0	3
University Children's Hospital, University of Zurich	3	0	3	0	0	0	3
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM)	8	0	3	0	0	0	3
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics	0	0	2	0	0	0	2
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London	2	0	1	0	0	1	2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	8	0	2	0	0	0	2
Centre de Génétique Humaine, Institut de Pathologie Et de Génétique	0	0	1	0	0	1	2
Centre for Human Genetics	4	0	2	0	0	0	2
Child Health and Human Development Program, Research Institute of the McGill University Health Center	1	0	2	0	0	0	2
ClinGen Hemoglobinopathy Variant Curation Expert Panel, ClinGen	2	0	1	0	0	1	2
ClinVar Staff, National Center for Biotechnology Information (NCBI)	88	0	0	0	0	2	2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	10	0	2	0	0	0	2
Clinical Genetics and Genomics, Karolinska University Hospital	2	0	2	0	0	0	2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	1	0	2	0	0	0	2
Dan Cohn Lab, University Of California Los Angeles	2	0	0	0	0	2	2
Department of Clinical Genetics, Medical University of Lodz	0	0	0	0	0	2	2
Department of Molecular Genetics, Istishari Arab Hospital	2	0	2	0	0	0	2
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center	0	0	1	0	0	1	2
Department of Pediatrics, National Cheng-Kung University Hospital	2	0	2	0	0	0	2
Department of Rehabilitation, Anhui Provincial Children's Hospital	0	0	2	0	0	0	2
Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine	3	0	2	0	0	0	2
Donald Williams Parsons Laboratory, Baylor College of Medicine	1	0	1	0	0	1	2
Dr.Nikuei Genetic Center	1	0	2	0	0	0	2
Genetic Diagnostic Laboratory, University of Szeged	0	0	1	0	0	1	2
Genetic Diseases Diagnostic Center, Koc University Hospital	0	0	1	0	0	1	2
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences	2	0	2	0	0	0	2
Genologica Medica	24	0	2	0	0	0	2
Genomic Medicine Lab, University of California San Francisco	1	0	1	0	0	1	2
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service	2	0	2	0	0	0	2
Gharavi Laboratory, Columbia University	0	0	2	0	0	0	2
Hadassah Hebrew University Medical Center	8	0	2	0	0	0	2
Inheritance Genetic Center	0	0	0	0	0	2	2
Institut Pasteur du Maroc	0	0	2	0	0	0	2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	1	0	1	0	0	1	2
Integrating Genomics into Medicine, Frazer Institute, University Of Queensland	6	0	2	0	0	0	2
Istanbul Faculty of Medicine, Istanbul University	0	0	0	0	0	2	2
Laboratoire de Génétique Moléculaire, CHU Bordeaux	1	0	1	0	0	1	2
Laboratory Cellgenetics, GMDL Cellgenetics	0	0	2	0	0	0	2
Laboratory of Genetics in Ophthalmology, Institut Imagine	2	0	2	0	0	0	2
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University	1	0	2	0	0	0	2
Mayo Clinic Laboratories, Mayo Clinic	5	0	1	0	0	1	2
Medical Genetics Laboratory, Tarbiat Modares University	1	0	2	0	0	0	2
Medical Genetics, Medical University Pleven	2	0	2	0	0	0	2
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital	2	0	1	0	0	1	2
Medical Molecular Genetics Department, National Research Center	3	0	1	0	0	1	2
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University	2	0	1	0	0	1	2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	3	0	1	0	0	1	2
Molecular Diagnostics Laboratory, Catalan Institute of Oncology	3	0	1	1	0	0	2
Molecular Genetics Lab, CHRU Brest	0	0	2	0	0	0	2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	1	0	1	0	0	1	2
Molecular Oncology, Hospital Universitario Central de Asturias (HUCA)	25	0	2	0	0	0	2
National Center for Biotechnology Information, National Institutes of Health	0	0	2	0	0	0	2
Neurometabolisches Labor, University hospital Tuebingen	0	0	1	0	0	1	2
Paris Brain Institute, Inserm - ICM	2	0	2	0	0	0	2
Rare Genetic Disease Lab, Dept of Zoology, Government Postgraduate College Dargai Malakand, Higher Education Govt. of Khyber Pakhtunkhwa	0	0	2	0	0	0	2
The Shared Resource Centre "Genome", Research Centre for Medical Genetics	1	0	2	0	0	0	2
Translational Research Program on Neuronal Ceroid Lipofuscinosis, Center for the Study of Inborn Errors of Metabolism	0	0	1	0	0	1	2
UCLA Clinical Genomics Center, UCLA	2	0	2	0	0	0	2
Vantari Genetics	1	0	1	1	0	0	2
deCODE genetics, Amgen	7	0	2	0	0	0	2
AlTemaimi Lab, Faculty of Medicine, Kuwait University	0	0	0	0	0	1	1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	10	0	1	0	0	0	1
Biochemistry And Molecular Medicine, Center For Genetics And Inherited Diseases, Taibah University	0	0	1	0	0	0	1
Biochemistry Laboratory of CDMU, Chengde Medical University	2	0	1	0	0	0	1
Bioinformatics dept., Datar Cancer Genetics Limited, India	6	0	1	0	0	0	1
Biology Pathology Center, Lille University Hospital	0	0	1	0	0	0	1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar	4	0	0	0	0	1	1
Biotechnology, Institute of Science, Nirma University	3	0	0	0	0	1	1
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	6	0	0	0	0	1	1
CMT Laboratory, Bogazici University	0	0	1	0	0	0	1
Cancer Diagnostics Division, Gene Solutions	0	0	1	0	0	0	1
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences	4	0	1	0	0	0	1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen	1	0	0	0	0	1	1
Center for Molecular Medicine, Children’s Hospital of Fudan University	2	0	1	0	0	0	1
Center for Statistical Genetics, Columbia University	0	0	1	0	0	0	1
Center of Excellence for Medical Genomics, Chulalongkorn University	0	0	0	0	0	1	1
Center of Medical Genetics and Primary Health Care	2	0	0	0	0	1	1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	0	0	1	0	0	0	1
Centre de Biotechnologie de Sfax, Université de Sfax	0	0	1	0	0	0	1
Centre for Genomic and Experimental Medicine, University of Edinburgh	0	0	1	0	0	0	1
Centre of Medical Genetics, University Hospital Muenster	3	0	1	0	0	0	1
Children's Hospital of Soochow University, Soochow University	0	0	1	0	0	0	1
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University	5	0	1	0	0	0	1
ClinGen Limb Girdle Muscular Dystrophy Variant Curation Expert Panel, ClinGen	0	0	1	0	0	0	1
Clingen Gastric Cancer Variant Curation Expert Panel	0	0	0	1	0	0	1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada	0	0	1	0	0	0	1
Clinical Cancer Genomics Laboratory, City of Hope Comprehensive Cancer Center	0	0	1	0	0	0	1
Clinical Genetics Laboratory, Region Ostergotland	0	0	0	0	0	1	1
Clinical Genetics, Amsterdam Medical Centre	0	0	0	1	0	0	1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill	1	0	1	0	0	0	1
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town	1	0	0	0	0	1	1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center	1	0	0	0	0	1	1
Cytogenetics Department, Christian Medical College, Vellore	0	0	0	0	0	1	1
DNA-diagnostics Laboratory, Research Centre For Medical Genetics	1	0	0	0	0	1	1
Department of Biochemistry, Faculty of Medicine, University of Khartoum	0	0	1	0	0	0	1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology	0	0	1	0	0	0	1
Department of Biotechnology and Microbiology, Karnatak University Dharwad	0	0	0	0	0	1	1
Department of Genetics, Suzhou Beikang Medical Laboratory	0	0	1	0	0	0	1
Department of Molecular and Human Genetics, Baylor College of Medicine	0	0	1	0	0	0	1
Department of Pathology and Genetics, University of Gothenburg	0	0	1	0	0	0	1
Department of Pediatric Nephrology, Wuhan Children's Hospital	0	0	1	0	0	0	1
Department of Pediatrics, University of Modena and Reggio Emilia	0	0	1	0	0	0	1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital	4	0	1	0	0	0	1
Department of Urology, First Affiliated Hospital of Nanjing Medical University	0	0	1	0	0	0	1
Dept. of Basic Medical Sciences, Taibah University College of Medicine, Taibah University	0	0	0	0	0	1	1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology	0	0	0	0	0	1	1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University	2	0	1	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	1	0	0	0	0	1	1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center	4	0	0	0	0	1	1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand	2	0	1	0	0	0	1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi	0	0	0	0	1	0	1
Dobyns Lab, Seattle Children's Research Institute	0	0	1	0	0	0	1
Ege University Pediatric Genetics, Ege University	0	0	0	0	0	1	1
Endocrinology Clinic, Seth G.S. Medical College	0	0	1	0	0	0	1
FRIGE's Institute of Human Genetics	0	0	1	0	0	0	1
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research	1	0	1	0	0	0	1
GENETICS INSTITUTE, National university of Colombia	0	0	1	0	0	0	1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	3	0	1	0	0	0	1
GeneID Lab - Advanced Molecular Diagnostics	1	0	0	0	0	1	1
GenePathDx, GenePath diagnostics	4	0	0	0	0	1	1
Genetic Predisposition to Colorectal Cancer Group, Institut d’Investigacions Biomediques August Pi i Sunyer	0	0	0	0	0	1	1
Genetics Department, Catlab	3	0	1	0	0	0	1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub	3	0	1	0	0	0	1
Genetics laboratory, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences	1	0	1	0	0	0	1
Genomenon, Inc, Genomenon, Inc	1	0	1	0	0	0	1
Genomic Diagnostics Laboratory, National Institute of Medical Genomics	0	0	1	0	0	0	1
Genomics and Human Genetics Laboratory, Pasteur Institut of Morocco	0	0	1	0	0	0	1
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	0	1	0	0	0	1
HFI Laboratory at Boston University, Boston University	0	0	1	0	0	0	1
HerediLab, Inc.	1	0	1	0	0	0	1
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre	1	0	1	0	0	0	1
Human Genetics Unit, University Of Colombo	1	0	1	0	0	0	1
Innovations Lab, Hyderabad, Tata Consultancy Services Ltd	0	0	1	0	0	0	1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles	0	0	1	0	0	0	1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	0	0	1	0	0	0	1
Institute of Genomics, University of Tartu	5	0	1	0	0	0	1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	2	0	1	0	0	0	1
Institute of Medical Molecular Genetics, University of Zurich	1	0	1	0	0	0	1
Internal Medicine, University of Pretoria	0	0	1	0	0	0	1
James R Lupski Laboratory, Baylor College Of Medicine	0	0	1	0	0	0	1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	9	0	0	0	0	1	1
Kids Neuroscience Centre, Sydney Children's Hospitals Network	0	0	0	0	0	1	1
Kong lab, Department of Laboratory Medicine, National Cancer Center	2	0	0	0	0	1	1
Laboratorio de Medicina Genomica, Hospital General de Culiacan	0	0	1	0	0	0	1
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine	0	0	1	0	0	0	1
Laboratory for Population and Evolutionary Genetics, University of Puerto Rico at Mayaguez	0	0	1	0	0	0	1
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar University of Porto	0	0	0	1	0	0	1
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi	3	0	0	0	0	1	1
Laboratory of Functional Genomics, Research Centre for Medical Genetics	0	0	0	0	0	1	1
Laboratory of Hereditary Immune Disorders, Research Centre for Medical Genetics	0	0	1	0	0	0	1
Laboratory of Immunopathology and Genetics, Medical Laboratory of Pediatric Oncology and Hematology, Central Clinical Hospital of the Medical University of Lodz	0	0	1	0	0	0	1
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University	0	0	0	0	0	1	1
Laboratory of Molecular Genetics, CHU Rennes	0	0	0	0	0	1	1
Laboratory of Molecular, Cellular and Translation Genetics in Otolaryngology/ Lim32-hcfmusp, University of Sao Paulo School of Medicine Clinics Hospital	0	0	1	0	0	0	1
Limin Genodermatosis Research Center, The First Affiliated Hospital of Soochow University	0	0	1	0	0	0	1
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP	1	0	1	0	0	0	1
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University	1	0	1	0	0	0	1
Molecular Biology Laboratory, Fundació Puigvert	7	0	1	0	0	0	1
Molecular Diagnostics Laboratory, Seoul National University Hospital	0	0	1	0	0	0	1
Molecular Genetic Laboratory, Kuwait Medical Genetic Center	0	0	0	0	0	1	1
Molecular Genetics Diagnostic Laboratory, Detroit Medical Center University Laboratories	0	0	0	0	0	1	1
Molecular Genetics Laboratory, Faculty of Medicine Siriraj Hospital, Mahidol University	0	0	1	0	0	0	1
Molecular Genetics Laboratory, Motol Hospital	0	0	1	0	0	0	1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	6	0	0	0	0	1	1
Molecular Lab, Department of Haematology, Christian Medical College	1	0	0	0	0	1	1
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire	1	0	0	0	0	1	1
MyeliNeuroGene Lab, McGill University Health Center Research Institute	0	0	1	0	0	0	1
National Institute of Mental Health and Neurosciences	1	0	1	0	0	0	1
Neonatology Unit, University Hospital of Modena	0	0	0	0	0	1	1
Neurology Department, Peking University First Hospital	3	0	1	0	0	0	1
Neuropathology Laboratory of Hebei Province, The Second Hospital of Hebei Medical University	0	0	1	0	0	0	1
NxGen MDx	0	0	0	0	0	1	1
Ophthalmology, Kobe City Eye Hospital	1	0	1	0	0	0	1
Pangenia Genomics, Pangenia Inc.	1	0	1	0	0	0	1
Payam Genetics Center, General Welfare Department of North Khorasan Province	1	0	1	0	0	0	1
Pediatric Genetics Clinic, Sheba Medical Center	0	0	1	0	0	0	1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital	0	0	0	0	0	1	1
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar	0	0	0	1	0	0	1
Prenatal Diagnosis Unit, University Medical Center at Ho Chi Minh City, University of Medicine and Pharmacy at Ho Chi Minh City	0	0	1	0	0	0	1
PreventionGenetics, part of Exact Sciences	8	0	1	0	0	0	1
Rare Diseases Genetics and Genomics, Islamia College Peshawar	0	0	1	0	0	0	1
Rasad Genetic Department, Rasad Pathobiology and Genetic Laboratory	0	0	1	0	0	0	1
Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
Research Laboratories, P. D. Hinduja Hospital & MRC	0	0	1	0	0	0	1
Research Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy, University of Monastir	0	0	1	0	0	0	1
Research Unit of Translational Medicine, University of Oulu	0	0	0	1	0	0	1
Rizzo Lab, University of Nebraska Medical Center	0	0	1	0	0	0	1
SNPedia	1	0	0	0	0	1	1
Sadaf Naz Human Genetics Laboratory, University of the Punjab	0	0	1	0	0	0	1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur	0	0	0	0	0	1	1
Sharon lab, Hadassah-Hebrew University Medical Center	2	0	1	0	0	0	1
Shendure Lab, University of Washington	0	0	1	0	0	0	1
Shenzhen Maternity and Child Healthcare Hospital, Institute of Maternal and Child Medicine Research	0	0	1	0	0	0	1
Shieh Lab, University of California, San Francisco	0	0	0	0	0	1	1
Solve-RD Consortium	4	0	1	0	0	0	1
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd	0	0	1	0	0	0	1
Tehran Medical Genetics Laboratory	1	0	1	0	0	0	1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital	0	0	0	0	0	1	1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health	0	0	1	0	0	0	1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela	0	0	1	0	0	0	1
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile	0	0	1	0	0	0	1
WangQJ Lab, Chinese People's Liberation Army General Hospital	0	0	1	0	0	0	1
Wangler Lab, Baylor College of Medicine	0	0	0	0	0	1	1
Yan Lab, Department of Urology, Pediatric Urolith Center, National Clinical Research Center for Child Health, The Children’s Hospital of Zhejiang University School of Medicine	0	0	1	0	0	0	1

All variants with conflicting interpretations #

Total variants: 7648

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.668G>A (p.Arg223His)	rs1042395	0.65654
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)	rs144848	0.23116
NM_004360.5(CDH1):c.*54C>T	rs1801026	0.17023
NM_002691.4(POLD1):c.463+8G>T	rs1726802	0.13968
NM_002691.4(POLD1):c.3218+10A>G	rs2463239	0.11362
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)	rs2070074	0.07384
NM_152564.5(VPS13B):c.9331-2A>T	rs74485751	0.06492
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)	rs1799950	0.04695
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)	rs1801426	0.03864
NM_000402.4(G6PD):c.292G>A (p.Val98Met)	rs1050828	0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)	rs61747728	0.02796
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys)	rs114234874	0.02502
NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys)	rs36024592	0.02382
NM_000055.4(BCHE):c.849G>C (p.Glu283Asp)	rs16849700	0.02374
NM_000535.7(PMS2):c.1488C>T (p.His496=)	rs1805320	0.02307
NM_005373.3(MPL):c.340G>A (p.Val114Met)	rs12731981	0.02191
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe)	rs10040427	0.02190
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala)	rs2228007	0.02174
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln)	rs45532440	0.02171
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg)	rs2228456	0.01986
NM_012434.5(SLC17A5):c.1111+7G>A	rs146729568	0.01982
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met)	rs4987117	0.01796
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu)	rs45551636	0.01717
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)	rs17158558	0.01651
NM_000546.6(TP53):c.993+12T>C	rs1800899	0.01614
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser)	rs61862390	0.01583
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)	rs35034250	0.01555
NM_001369.3(DNAH5):c.2683G>A (p.Glu895Lys)	rs76229167	0.01551
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser)	rs45494092	0.01508
NM_001369.3(DNAH5):c.3301G>A (p.Val1101Met)	rs61747516	0.01505
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg)	rs1800057	0.01452
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser)	rs17154353	0.01449
NM_006231.4(POLE):c.2550C>T (p.Ile850=)	rs5744834	0.01438
NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly)	rs35740585	0.01429
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys)	rs5745066	0.01416
NM_006231.4(POLE):c.5678+4C>T	rs5744973	0.01405
NM_007294.4(BRCA1):c.*36C>G	rs3092995	0.01385
NM_001369.3(DNAH5):c.3241A>G (p.Met1081Val)	rs16902880	0.01375
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly)	rs141736123	0.01357
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)	rs1799967	0.01348
NM_005373.3(MPL):c.117G>T (p.Lys39Asn)	rs17292650	0.01329
NM_006231.4(POLE):c.91G>T (p.Ala31Ser)	rs34047482	0.01320
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr)	rs33935154	0.01316
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)	rs607969	0.01309
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=)	rs6880264	0.01240
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=)	rs9590940	0.01220
NM_001142800.2(EYS):c.-459C>T	rs144371265	0.01208
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=)	rs35145938	0.01185
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe)	rs4987047	0.01180
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln)	rs145184792	0.01112
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)	rs4986852	0.01109
NM_001370658.1(BTD):c.820A>G (p.Ile274Val)	rs35976361	0.01107
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr)	rs35727744	0.01099
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly)	rs28363284	0.01092
NM_000051.4(ATM):c.735C>T (p.Val245=)	rs3218674	0.01085
NM_002691.4(POLD1):c.849G>T (p.Gln283His)	rs113282414	0.01085
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_000289.6(PFKM):c.2087G>A (p.Arg696His)	rs41291971	0.01058
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr)	rs36039758	0.01056
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)	rs80358251	0.01055
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys)	rs142522748	0.01047
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu)	rs34397615	0.01042
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser)	rs1805318	0.01006
NM_000441.2(SLC26A4):c.1002-9A>C	rs10234822	0.01002
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly)	rs2227945	0.00983
NM_000059.4(BRCA2):c.8487+19A>G	rs11571743	0.00975
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu)	rs56082113	0.00964
NM_001384474.1(LOXHD1):c.1742T>C (p.Val581Ala)	rs35007621	0.00961
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)	rs74374973	0.00953
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe)	rs34421970	0.00952
NM_004360.5(CDH1):c.-71C>G	rs34033771	0.00929
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)	rs33927012	0.00921
NM_006231.4(POLE):c.3265_3275+15dup	rs1555225627	0.00913
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg)	rs4986860	0.00910
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)	rs11571707	0.00895
NM_001369.3(DNAH5):c.4836G>A (p.Val1612=)	rs34671383	0.00895
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)	rs41273726	0.00885
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu)	rs1800056	0.00861
NM_000546.6(TP53):c.*1175A>C	rs78378222	0.00849
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr)	rs5744991	0.00843
NM_001369.3(DNAH5):c.1647C>G (p.Asn549Lys)	rs139160176	0.00831
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn)	rs115311625	0.00829
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr)	rs11571769	0.00809
NM_006231.4(POLE):c.1007A>G (p.Asn336Ser)	rs5744760	0.00805
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)	rs36060526	0.00793
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn)	rs45574331	0.00792
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro)	rs4986761	0.00782
NM_000441.2(SLC26A4):c.1488C>T (p.Leu496=)	rs77407094	0.00782
NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=)	rs144845223	0.00779
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=)	rs11571642	0.00768
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu)	rs187587197	0.00751
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val)	rs61754118	0.00745
NM_001369.3(DNAH5):c.6579+6A>G	rs141389162	0.00745
NM_000642.3(AGL):c.1481G>A (p.Arg494His)	rs141043166	0.00743
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala)	rs7766366	0.00741
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile)	rs11571831	0.00725
NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His)	rs183531840	0.00717
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp)	rs3218772	0.00717
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val)	rs113562492	0.00702
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys)	rs61731387	0.00699
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln)	rs62619919	0.00690
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg)	rs115045643	0.00681
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=)	rs7811324	0.00669
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys)	rs3738888	0.00668
NM_001384474.1(LOXHD1):c.611-15T>C	rs146912450	0.00662
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=)	rs28897679	0.00657
NM_000059.4(BRCA2):c.517-19C>T	rs11571623	0.00653
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala)	rs28363317	0.00653
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr)	rs28897727	0.00609
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg)	rs2229020	0.00600
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile)	rs145125791	0.00600
NM_000059.4(BRCA2):c.5704G>A	rs4987048	0.00598
NM_000059.4(BRCA2):c.9257-16T>C	rs11571818	0.00597
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)	rs11571833	0.00597
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp)	rs187964306	0.00596
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys)	rs34388030	0.00590
NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys)	rs115232898	0.00585
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu)	rs150724610	0.00580
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln)	rs1801166	0.00570
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)	rs35196441	0.00569
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp)	rs115338476	0.00551
NM_006231.4(POLE):c.6494G>A (p.Arg2165His)	rs5745068	0.00550
NM_000249.4(MLH1):c.1038+51C>T	rs55986674	0.00547
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)	rs1800098	0.00519
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser)	rs17886163	0.00514
NM_001384474.1(LOXHD1):c.1843C>A (p.Arg615=)	rs112463030	0.00507
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)	rs104895094	0.00506
NM_000059.4(BRCA2):c.-11C>T	rs76874770	0.00504
NM_000277.3(PAH):c.820A>G (p.Lys274Glu)	rs142934616	0.00496
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=)	rs28897734	0.00488
NM_001378454.1(ALMS1):c.12362+18A>T	rs535484933	0.00488
NM_005373.3(MPL):c.1565+5C>T	rs41269541	0.00488
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe)	rs73155056	0.00487
NM_000329.3(RPE65):c.1155G>A (p.Thr385=)	rs62653014	0.00481
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val)	rs145847315	0.00477
NM_000110.4(DPYD):c.1905+1G>A	rs3918290	0.00474
NM_007294.4(BRCA1):c.5406+8T>C	rs55946644	0.00474
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=)	rs182322608	0.00464
NM_006231.4(POLE):c.1359+9G>A	rs75135381	0.00461
NM_005373.3(MPL):c.210G>A (p.Pro70=)	rs6086	0.00452
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser)	rs73481453	0.00444
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)	rs1801673	0.00439
NM_000059.4(BRCA2):c.7008-62A>G	rs76584943	0.00439
NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg)	rs73928330	0.00436
NM_007294.4(BRCA1):c.5468-10C>A	rs8176316	0.00431
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu)	rs111033304	0.00423
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln)	rs28363283	0.00423
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)	rs28897689	0.00419
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)	rs11971167	0.00417
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)	rs34997054	0.00411
NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile)	rs144513453	0.00410
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	rs17879961	0.00408
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)	rs45503297	0.00407
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln)	rs35669708	0.00406
NM_000520.6(HEXA):c.673-13T>C	rs75211071	0.00405
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp)	rs61749249	0.00399
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg)	rs55953736	0.00396
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp)	rs2229035	0.00388
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)	rs35001569	0.00387
NM_000203.5(IDUA):c.246C>G (p.His82Gln)	rs148775298	0.00371
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser)	rs148206382	0.00364
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)	rs4988345	0.00363
NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile)	rs2227944	0.00356
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)	rs115545701	0.00350
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)	rs112822256	0.00350
NM_000027.4(AGA):c.394+19_394+20del	rs575232762	0.00349
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)	rs59912467	0.00348
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)	rs28383481	0.00347
NM_000153.4(GALC):c.1006G>A (p.Val336Met)	rs185073540	0.00345
NM_006231.4(POLE):c.2468+10C>T	rs5744823	0.00342
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu)	rs45441106	0.00341
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	rs36053993	0.00341
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr)	rs61758784	0.00340
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val)	rs67376798	0.00334
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn)	rs141932807	0.00334
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)	rs138427376	0.00329
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_000271.5(NPC1):c.2882A>G (p.Asn961Ser)	rs34084984	0.00325
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val)	rs41561818	0.00325
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=)	rs34355306	0.00324
NM_000059.4(BRCA2):c.2786T>C (p.Leu929Ser)	rs2227943	0.00322
NM_058216.3(RAD51C):c.186A>G (p.Gln62=)	rs28363303	0.00322
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe)	rs11571659	0.00318
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)	rs75977701	0.00316
NM_000070.3(CAPN3):c.1746-20C>G	rs201892814	0.00312
NM_006493.4(CLN5):c.-87C>T	rs200353554	0.00309
NM_024675.4(PALB2):c.1419A>C (p.Pro473=)	rs62625275	0.00309
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)	rs55688530	0.00301
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu)	rs28903085	0.00300
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)	rs4988346	0.00297
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)	rs28897724	0.00295
NM_000441.2(SLC26A4):c.849G>C (p.Met283Ile)	rs146348818	0.00293
NM_005591.4(MRE11):c.121G>A (p.Asp41Asn)	rs116679717	0.00293
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=)	rs28903094	0.00293
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn)	rs2219594	0.00292
NM_006231.4(POLE):c.16G>C (p.Gly6Arg)	rs202220778	0.00291
NM_000059.4(BRCA2):c.7805+6C>G	rs81002819	0.00290
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys)	rs11571657	0.00288
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)	rs148932323	0.00287
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)	rs34324426	0.00283
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)	rs192376005	0.00283
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val)	rs141641266	0.00282
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr)	rs41293485	0.00280
NM_000059.4(BRCA2):c.68-7T>A	rs81002830	0.00277
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)	rs1800365	0.00275
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)	rs58241708	0.00272
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)	rs1799954	0.00268
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe)	rs34226296	0.00268
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met)	rs143708308	0.00268
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu)	rs34120922	0.00263
NM_004329.3(BMPR1A):c.618A>G (p.Leu206=)	rs55992440	0.00257
NM_007294.4(BRCA1):c.4987-20A>G	rs80358035	0.00252
NM_004168.4(SDHA):c.146A>G (p.Asp49Gly)	rs80207011	0.00250
NM_000077.5(CDKN2A):c.430C>T (p.Arg144Cys)	rs116150891	0.00248
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp)	rs35365413	0.00248
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His)	rs35029074	0.00247
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr)	rs61752901	0.00245
NM_005591.4(MRE11):c.969A>G (p.Pro323=)	rs13447633	0.00245
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met)	rs70953664	0.00244
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg)	rs641252	0.00242
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile)	rs1800744	0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile)	rs28897749	0.00239
NM_020975.6(RET):c.1336G>C (p.Gly446Arg)	rs115423919	0.00238
NM_001369.3(DNAH5):c.7752+10T>C	rs149460805	0.00231
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)	rs147215925	0.00230
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=)	rs1799952	0.00228
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg)	rs36099971	0.00224
NM_005732.4(RAD50):c.2670G>A (p.Gln890=)	rs112241748	0.00216
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=)	rs61754138	0.00215
NM_000077.5(CDKN2A):c.150+37G>C	rs45456595	0.00212
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg)	rs34969857	0.00212
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp)	rs4986845	0.00209
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)	rs1800111	0.00208
NM_005732.4(RAD50):c.980G>A (p.Arg327His)	rs28903091	0.00207
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)	rs34767364	0.00206
NM_002878.4(RAD51D):c.771C>T (p.Ser257=)	rs146212490	0.00206
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys)	rs55977008	0.00203
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile)	rs140042576	0.00203
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)	rs11571746	0.00202
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)	rs17883862	0.00201
NM_000051.4(ATM):c.370A>G (p.Ile124Val)	rs148590073	0.00198
NM_002691.4(POLD1):c.56G>A (p.Arg19His)	rs3218773	0.00197
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro)	rs4988347	0.00197
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)	rs143340522	0.00192
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly)	rs36105240	0.00190
NM_007194.4(CHEK2):c.1407G>A (p.Val469=)	rs17881378	0.00190
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg)	rs57443665	0.00186
NM_005609.4(PYGM):c.660G>A (p.Gln220=)	rs142234258	0.00186
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)	rs56128736	0.00185
NM_003000.3(SDHB):c.32G>A (p.Arg11His)	rs111430410	0.00185
NM_000059.4(BRCA2):c.231T>G (p.Thr77=)	rs114446594	0.00184
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys)	rs141168110	0.00184
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=)	rs80356851	0.00183
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	rs397515360	0.00183
NM_000535.7(PMS2):c.23+10G>C	rs192027828	0.00182
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)	rs147241704	0.00182
NM_000018.4(ACADVL):c.1828-4C>G	rs184559206	0.00178
NM_000329.3(RPE65):c.978G>T (p.Val326=)	rs61752907	0.00178
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)	rs116987552	0.00178
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)	rs116373169	0.00177
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)	rs28897710	0.00172
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)	rs150157202	0.00172
NM_002878.4(RAD51D):c.481-7G>A	rs145832514	0.00171
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)	rs1800059	0.00169
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	rs34612342	0.00168
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=)	rs373924055	0.00168
NM_000520.6(HEXA):c.1146+8G>A	rs201453018	0.00167
NM_000051.4(ATM):c.609C>T (p.Asp203=)	rs144709948	0.00166
NM_000051.4(ATM):c.7788+8G>T	rs112775908	0.00166
NM_007294.4(BRCA1):c.21C>T (p.Arg7=)	rs149402012	0.00165
NM_000465.4(BARD1):c.33G>T (p.Gln11His)	rs143914387	0.00164
NM_000018.4(ACADVL):c.1678+23C>T	rs147546456	0.00163
NM_153717.3(EVC):c.1500G>A (p.Met500Ile)	rs149898884	0.00163
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn)	rs139555085	0.00160
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)	rs4987046	0.00158
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met)	rs56128296	0.00158
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg)	rs55969723	0.00156
NM_000520.6(HEXA):c.346+13C>T	rs200871198	0.00156
NM_005732.4(RAD50):c.2091C>T (p.Val697=)	rs61747588	0.00156
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr)	rs80116829	0.00154
NM_133259.4(LRPPRC):c.3148+12C>T	rs199684766	0.00153
NM_005591.4(MRE11):c.822T>C (p.Leu274=)	rs137868143	0.00152
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala)	rs11571747	0.00151
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys)	rs114896482	0.00151
NM_000536.4(RAG2):c.1504A>G (p.Met502Val)	rs145614809	0.00150
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile)	rs56158747	0.00150
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)	rs142155101	0.00149
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)	rs61752878	0.00147
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=)	rs4986844	0.00147
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu)	rs80358600	0.00146
NM_005732.4(RAD50):c.379G>A (p.Val127Ile)	rs28903086	0.00146
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)	rs72552259	0.00145
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met)	rs55815649	0.00145
NM_000059.4(BRCA2):c.9634G>C (p.Gly3212Arg)	rs55775473	0.00141
NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu)	rs145623359	0.00140
NM_000018.4(ACADVL):c.1606-22C>T	rs370303265	0.00139
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp)	rs148720124	0.00139
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=)	rs370616818	0.00138
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)	rs1800709	0.00137
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
NM_002691.4(POLD1):c.2007-4G>A	rs202035484	0.00135
NM_000179.3(MSH6):c.3647-6T>A	rs182871847	0.00134
NM_000137.4(FAH):c.961-17G>A	rs372657388	0.00133
NM_002878.4(RAD51D):c.666A>G (p.Glu222=)	rs114012742	0.00131
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp)	rs61734354	0.00130
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)	rs28897747	0.00127
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val)	rs55712212	0.00126
NM_000277.3(PAH):c.*19G>T	rs372637021	0.00126
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)	rs139866691	0.00126
NM_002878.4(RAD51D):c.263+1588A>G	rs180869630	0.00123
NM_006231.4(POLE):c.861T>A (p.Asp287Glu)	rs139075637	0.00122
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys)	rs28939695	0.00121
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)	rs45478192	0.00121
NM_032043.3(BRIP1):c.918+15T>A	rs117820198	0.00121
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)	rs75789129	0.00119
NM_007294.4(BRCA1):c.591C>T (p.Cys197=)	rs1799965	0.00117
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn)	rs140179844	0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)	rs1801155	0.00116
NM_000249.4(MLH1):c.-28A>G	rs56198082	0.00116
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser)	rs180869784	0.00116
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val)	rs140317560	0.00116
NM_024675.4(PALB2):c.2834+18A>T	rs114491776	0.00113
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)	rs28997570	0.00113
NM_001370259.2(MEN1):c.30G>T (p.Leu10=)	rs371192390	0.00111
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val)	rs146739496	0.00111
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile)	rs145473716	0.00110
NM_015166.4(MLC1):c.628G>A (p.Val210Ile)	rs11568178	0.00110
NM_005591.4(MRE11):c.426C>T (p.Asp142=)	rs3218740	0.00109
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=)	rs17752991	0.00109
NM_000492.4(CFTR):c.2620-26A>G	rs201716473	0.00108
NM_020975.6(RET):c.1197G>A (p.Pro399=)	rs148371113	0.00108
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)	rs34988750	0.00107
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile)	rs55933907	0.00106
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His)	rs80357459	0.00106
NM_000077.5(CDKN2A):c.-2G>A	rs191394143	0.00105
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys)	rs140743238	0.00104
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)	rs1800110	0.00103
NM_000179.3(MSH6):c.984C>T (p.Ser328=)	rs138143769	0.00101
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)	rs28997569	0.00101
NM_000535.7(PMS2):c.353+9A>C	rs139990791	0.00100
NM_000154.2(GALK1):c.593C>T (p.Ala198Val)	rs80084721	0.00099
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)	rs138327406	0.00098
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr)	rs4986854	0.00098
NM_024675.4(PALB2):c.909C>T (p.Leu303=)	rs145788619	0.00098
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter)	rs143616240	0.00098
NM_000038.6(APC):c.2262T>G (p.Val754=)	rs148987776	0.00096
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala)	rs1800061	0.00096
NM_000059.4(BRCA2):c.6937+594T>G	rs191253965	0.00094
NM_000535.7(PMS2):c.2253T>C (p.Phe751=)	rs1805325	0.00094
NM_002691.4(POLD1):c.3120+12G>A	rs182231620	0.00094
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)	rs143999854	0.00093
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)	rs28897711	0.00092
NM_000038.6(APC):c.1825G>A (p.Val609Ile)	rs147863331	0.00090
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=)	rs11571655	0.00090
NM_004004.6(GJB2):c.-23G>T	rs786204734	0.00090
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His)	rs142723249	0.00089
NM_002691.4(POLD1):c.971-19G>A	rs56022846	0.00089
NM_000038.6(APC):c.6821C>T (p.Ala2274Val)	rs34919187	0.00088
NM_000520.6(HEXA):c.1527-6T>C	rs199914308	0.00087
NM_000546.6(TP53):c.994-17C>T	rs368691910	0.00087
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)	rs55716624	0.00086
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)	rs35516286	0.00083
NM_000535.7(PMS2):c.2187C>G (p.Leu729=)	rs373630535	0.00083
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys)	rs35619497	0.00081
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg)	rs117122807	0.00080
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg)	rs28897706	0.00079
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)	rs147934285	0.00078
NM_005732.4(RAD50):c.3036+5G>A	rs181016343	0.00078
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp)	rs63750447	0.00077
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=)	rs28897693	0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)	rs41293475	0.00074
NM_002878.4(RAD51D):c.263+1570T>A	rs376472075	0.00074
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr)	rs28897708	0.00072
NM_000251.3(MSH2):c.942+3A>T	rs193922376	0.00072
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)	rs201671325	0.00072
NM_001164277.2(SLC37A4):c.785+6A>T	rs369358436	0.00072
NM_002691.4(POLD1):c.2565-17G>A	rs200576676	0.00072
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys)	rs201758548	0.00071
NM_006231.4(POLE):c.6004+11A>G	rs201591857	0.00071
NM_058216.3(RAD51C):c.146-8A>G	rs201079501	0.00071
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)	rs55639415	0.00070
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser)	rs147366706	0.00070
NM_007194.4(CHEK2):c.320-5T>A	rs121908700	0.00070
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)	rs4987050	0.00069
NM_000455.5(STK11):c.597+14del	rs536282050	0.00068
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)	rs149755320	0.00068
NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro)	rs115328064	0.00068
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr)	rs144321760	0.00067
NM_000128.4(F11):c.901T>C (p.Phe301Leu)	rs121965064	0.00066
NM_000179.3(MSH6):c.1665A>G (p.Ala555=)	rs146785465	0.00066
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu)	rs150334966	0.00066
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg)	rs55720177	0.00066
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=)	rs1800740	0.00066
NM_007294.4(BRCA1):c.81-12C>G	rs80358055	0.00066
NM_007294.4(BRCA1):c.981A>G (p.Thr327=)	rs1800063	0.00066
NM_000249.4(MLH1):c.375A>G (p.Ala125=)	rs1800144	0.00065
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile)	rs1800704	0.00065
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)	rs146451547	0.00065
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)	rs141711342	0.00063
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=)	rs111033193	0.00063
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)	rs77130927	0.00063
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)	rs142358238	0.00062
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser)	rs138184115	0.00062
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)	rs143994166	0.00062
NM_001164508.2(NEB):c.23241+16C>T	rs75221580	0.00062
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr)	rs151201155	0.00061
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)	rs549794342	0.00061
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=)	rs142459158	0.00061
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr)	rs147499872	0.00060
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His)	rs28897677	0.00060
NM_024675.4(PALB2):c.2996+17T>C	rs180177128	0.00060
NM_000329.3(RPE65):c.48T>C (p.Phe16=)	rs62642581	0.00059
NM_000179.3(MSH6):c.1869C>T (p.Pro623=)	rs141242295	0.00058
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)	rs140736646	0.00058
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys)	rs149127230	0.00058
NM_005609.4(PYGM):c.182G>A (p.Arg61His)	rs145514333	0.00058
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly)	rs148725540	0.00057
NM_000153.4(GALC):c.349A>G (p.Met117Val)	rs145580093	0.00057
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile)	rs147056383	0.00057
NM_001369.3(DNAH5):c.11570+124G>C	rs543104462	0.00057
NM_004360.5(CDH1):c.2439+10C>T	rs35236080	0.00057
NM_002691.4(POLD1):c.1138-8A>G	rs41544624	0.00056
NM_002691.4(POLD1):c.3218+17G>A	rs375490101	0.00056
NM_004004.6(GJB2):c.-22-2A>C	rs201895089	0.00056
NM_020975.6(RET):c.262A>G (p.Ile88Val)	rs141679950	0.00056
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile)	rs111033463	0.00056
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)	rs148660051	0.00056
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)	rs28897712	0.00054
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)	rs28897716	0.00054
NM_007194.4(CHEK2):c.793-11G>A	rs5997387	0.00054
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)	rs141103838	0.00054
NM_000038.6(APC):c.1240C>T (p.Arg414Cys)	rs137854567	0.00053
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)	rs34640941	0.00053
NM_000059.4(BRCA2):c.7435+6G>A	rs81002852	0.00053
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=)	rs63750330	0.00053
NM_024675.4(PALB2):c.2749-18C>T	rs182194007	0.00053
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr)	rs145012038	0.00052
NM_014363.6(SACS):c.2186-4A>G	rs371866995	0.00052
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys)	rs140592056	0.00051
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)	rs200078204	0.00050
NM_000520.6(HEXA):c.-4G>A	rs766510036	0.00050
NM_000551.4(VHL):c.463+8C>T	rs5030834	0.00050
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly)	rs28897745	0.00049
NM_000035.4(ALDOB):c.799+11C>T	rs182245025	0.00048
NM_000038.6(APC):c.295C>T (p.Arg99Trp)	rs139196838	0.00048
NM_000059.4(BRCA2):c.631+25C>T	rs367871824	0.00048
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile)	rs28897744	0.00048
NM_000179.3(MSH6):c.2667G>T (p.Gln889His)	rs149945495	0.00048
NM_000059.4(BRCA2):c.9649-19G>A	rs11571830	0.00047
NM_058216.3(RAD51C):c.706-18T>C	rs56401264	0.00047
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys)	rs140853839	0.00046
NM_000051.4(ATM):c.1986T>C (p.Phe662=)	rs1800055	0.00046
NM_000059.4(BRCA2):c.9843A>G (p.Pro3281=)	rs11571832	0.00046
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln)	rs151273553	0.00046
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His)	rs80356892	0.00046
NM_012144.4(DNAI1):c.389-1G>C	rs200488444	0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	rs199605265	0.00046
NM_000059.4(BRCA2):c.7976+12G>A	rs81002827	0.00045
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=)	rs4987127	0.00045
NM_000179.3(MSH6):c.491A>C (p.His164Pro)	rs146469162	0.00045
NM_000492.4(CFTR):c.509G>A (p.Arg170His)	rs1800079	0.00045
NM_000492.4(CFTR):c.601G>A (p.Val201Met)	rs138338446	0.00045
NM_002691.4(POLD1):c.2052G>C (p.Gln684His)	rs144143245	0.00045
NM_004004.6(GJB2):c.*1C>T	rs111033327	0.00045
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg)	rs28897728	0.00044
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)	rs183105855	0.00044
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp)	rs75321043	0.00044
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile)	rs142334798	0.00044
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu)	rs114849139	0.00044
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)	rs140856217	0.00043
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=)	rs80359810	0.00043
NM_000455.5(STK11):c.1185A>G (p.Thr395=)	rs370207155	0.00043
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser)	rs142450703	0.00043
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)	rs201082652	0.00043
NM_000023.4(SGCA):c.662G>A (p.Arg221His)	rs138254713	0.00042
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val)	rs79538375	0.00042
NM_000179.3(MSH6):c.3960A>G (p.Ala1320=)	rs373425206	0.00042
NM_004360.5(CDH1):c.1138-3C>T	rs36103202	0.00042
NM_005732.4(RAD50):c.260G>A (p.Arg87His)	rs374561375	0.00042
NM_007294.4(BRCA1):c.-20+11C>T	rs273898672	0.00042
NC_000007.14:g.117479647A>G	rs943663200	0.00041
NM_000038.6(APC):c.2322C>T (p.Asp774=)	rs145792879	0.00041
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val)	rs138417003	0.00041
NM_000535.7(PMS2):c.936G>A (p.Met312Ile)	rs139194813	0.00041
NM_001360.3(DHCR7):c.400G>T (p.Val134Leu)	rs201466849	0.00041
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn)	rs145309168	0.00041
NM_004360.5(CDH1):c.1239C>T (p.Tyr413=)	rs36074916	0.00041
NM_005732.4(RAD50):c.687del (p.Ser229fs)	rs760146707	0.00041
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)	rs200179145	0.00041
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser)	rs55886062	0.00040
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)	rs201386642	0.00040
NM_002691.4(POLD1):c.3068-14C>T	rs3218758	0.00040
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)	rs148935214	0.00039
NM_000030.3(AGXT):c.165+40A>C	rs57017537	0.00038
NM_000038.6(APC):c.2847G>T (p.Met949Ile)	rs147394539	0.00038
NM_000038.6(APC):c.3650A>C (p.Asn1217Thr)	rs138933660	0.00038
NM_000038.6(APC):c.5690A>C (p.His1897Pro)	rs112610898	0.00038
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn)	rs80359065	0.00038
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)	rs200856561	0.00038
NM_000251.3(MSH2):c.1511-41G>C	rs202215396	0.00038
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)	rs140455771	0.00038
NM_002878.4(RAD51D):c.904-11T>A	rs374449943	0.00038
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu)	rs55906931	0.00038
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser)	rs34938432	0.00037
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)	rs140825795	0.00037
NM_000038.6(APC):c.6857C>T (p.Ala2286Val)	rs200587641	0.00036
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)	rs147472391	0.00036
NM_006231.4(POLE):c.2026+9C>T	rs373790607	0.00036
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)	rs564605612	0.00036
NM_007294.4(BRCA1):c.4484+14A>G	rs80358022	0.00036
NM_000055.4(BCHE):c.428G>A (p.Gly143Asp)	rs201820739	0.00035
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=)	rs4987049	0.00035
NM_000455.5(STK11):c.1284G>A (p.Ser428=)	rs369097329	0.00035
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)	rs200321110	0.00035
NM_004168.4(SDHA):c.622-8T>C	rs370714378	0.00035
NM_004360.5(CDH1):c.808T>G (p.Ser270Ala)	rs587776399	0.00035
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys)	rs151254520	0.00034
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)	rs139552233	0.00034
NM_000059.4(BRCA2):c.322A>C (p.Asn108His)	rs80358567	0.00034
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)	rs147422190	0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)	rs200050883	0.00034
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val)	rs121912714	0.00033
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln)	rs145272777	0.00033
NM_024675.4(PALB2):c.1470C>T (p.Pro490=)	rs45612837	0.00033
NM_000038.6(APC):c.2232T>G (p.Ser744=)	rs145751759	0.00032
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)	rs63750365	0.00032
NM_000251.3(MSH2):c.815C>T (p.Ala272Val)	rs34136999	0.00032
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly)	rs184779459	0.00032
NM_005359.6(SMAD4):c.102A>G (p.Thr34=)	rs146104321	0.00032
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys)	rs104895016	0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)	rs142763740	0.00032
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser)	rs80357015	0.00032
NM_024301.5(FKRP):c.898G>A (p.Val300Met)	rs563033008	0.00032
NM_000038.6(APC):c.4905G>A (p.Gly1635=)	rs137988845	0.00031
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)	rs142967546	0.00031
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)	rs63750124	0.00031
NM_001048174.2(MUTYH):c.1392+2C>T	rs140288388	0.00031
NM_002691.4(POLD1):c.3121-14G>A	rs367766963	0.00031
NM_004004.6(GJB2):c.499G>A (p.Val167Met)	rs111033360	0.00031
NM_000022.4(ADA):c.643G>A (p.Ala215Thr)	rs114025668	0.00030
NM_000030.3(AGXT):c.145A>C (p.Met49Leu)	rs74205173	0.00030
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)	rs78769542	0.00030
NM_001048174.2(MUTYH):c.116-54C>T	rs367908623	0.00030
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys)	rs72550742	0.00030
NM_058216.3(RAD51C):c.571+16A>G	rs141621051	0.00030
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)	rs80338671	0.00029
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn)	rs201759207	0.00029
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr)	rs374524755	0.00029
NM_001384474.1(LOXHD1):c.5400-3C>T	rs528236655	0.00029
NM_002691.4(POLD1):c.3219-19C>A	rs374168125	0.00029
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser)	rs41554817	0.00029
NM_004168.4(SDHA):c.456+6G>T	rs371735891	0.00029
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)	rs56012641	0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys)	rs56187033	0.00029
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln)	rs104894493	0.00029
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile)	rs3092831	0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	rs5030868	0.00028
NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu)	rs145540754	0.00028
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=)	rs1800121	0.00028
NM_007294.4(BRCA1):c.548-17G>T	rs80358014	0.00028
NM_000018.4(ACADVL):c.1678+15C>T	rs371402802	0.00027
NM_000038.6(APC):c.2593C>T (p.Pro865Ser)	rs192620988	0.00027
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)	rs80338709	0.00027
NM_000465.4(BARD1):c.346C>T (p.His116Tyr)	rs144856889	0.00027
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys)	rs3738885	0.00027
NM_000520.6(HEXA):c.1073+41C>T	rs367719010	0.00027
NM_000546.5(TP53):c.319T>C (p.Tyr107His)	rs368771578	0.00027
NM_000546.6(TP53):c.173C>G (p.Pro58Arg)	rs144386518	0.00027
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)	rs104895032	0.00027
NM_002878.4(RAD51D):c.216C>T (p.Tyr72=)	rs148690585	0.00027
NM_003060.4(SLC22A5):c.529A>G (p.Met177Val)	rs145068530	0.00027
NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met)	rs368913905	0.00027
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His)	rs544216926	0.00027
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)	rs28897675	0.00027
NM_000018.4(ACADVL):c.1533-4T>A	rs369986567	0.00026
NM_000018.4(ACADVL):c.1751+18G>A	rs528002997	0.00026
NM_000038.6(APC):c.8266A>G (p.Ile2756Val)	rs146115809	0.00026
NM_000059.4(BRCA2):c.1395A>C (p.Val465=)	rs11571641	0.00026
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=)	rs80359788	0.00026
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val)	rs56272235	0.00026
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)	rs148044781	0.00026
NM_001384474.1(LOXHD1):c.6243T>C (p.Cys2081=)	rs199645176	0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)	rs137853011	0.00026
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)	rs150757822	0.00025
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)	rs56328701	0.00025
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg)	rs80358674	0.00025
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys)	rs55794205	0.00025
NM_000071.3(CBS):c.829-11G>T	rs371619788	0.00025
NM_000359.3(TGM1):c.281G>A (p.Gly94Asp)	rs121918729	0.00025
NM_000360.4(TH):c.679G>A (p.Glu227Lys)	rs536382000	0.00025
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly)	rs145009419	0.00025
NM_000546.6(TP53):c.704A>G (p.Asn235Ser)	rs144340710	0.00025
NM_001918.5(DBT):c.670G>T (p.Glu224Ter)	rs74103423	0.00025
NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser)	rs201676898	0.00025
NM_003640.5(ELP1):c.3701-6C>G	rs148535504	0.00025
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)	rs142441643	0.00025
NM_004360.5(CDH1):c.303C>T (p.Tyr101=)	rs150789339	0.00025
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met)	rs200451612	0.00025
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu)	rs28897688	0.00025
NM_020975.6(RET):c.785T>C (p.Val262Ala)	rs139790943	0.00025
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser)	rs185057307	0.00025
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile)	rs201963516	0.00025
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His)	rs41293521	0.00024
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly)	rs762648754	0.00024
NM_000251.3(MSH2):c.1277-16T>C	rs368653974	0.00024
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)	rs146136265	0.00024
NM_002691.4(POLD1):c.1137+16C>T	rs56082047	0.00024
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His)	rs113849804	0.00024
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr)	rs201115064	0.00024
NM_007194.4(CHEK2):c.444+19T>C	rs200501745	0.00024
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys)	rs80357257	0.00024
NM_007294.4(BRCA1):c.4358-10C>T	rs80358111	0.00024
NM_058195.4(CDKN2A):c.69C>T (p.Phe23=)	rs374360796	0.00024
NM_058216.3(RAD51C):c.145+12T>G	rs377297129	0.00024
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)	rs137852849	0.00024
NM_000038.6(APC):c.5274T>A (p.Ser1758=)	rs199600387	0.00023
NM_000059.4(BRCA2):c.2412A>G (p.Glu804=)	rs587780866	0.00023
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)	rs56087561	0.00023
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)	rs149866955	0.00023
NM_004646.4(NPHS1):c.65C>T (p.Ala22Val)	rs116617171	0.00023
NM_005373.3(MPL):c.1666G>T (p.Val556Phe)	rs150004498	0.00023
NM_006231.4(POLE):c.5379-19C>T	rs376722984	0.00023
NM_152564.5(VPS13B):c.2124T>C (p.Ala708=)	rs201650333	0.00023
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)	rs41315579	0.00023
NM_000048.4(ASL):c.299T>C (p.Ile100Thr)	rs202142867	0.00022
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile)	rs28897755	0.00022
NM_000098.3(CPT2):c.149C>A (p.Pro50His)	rs28936375	0.00022
NM_000135.4(FANCA):c.3829-9G>A	rs776077648	0.00022
NM_000187.4(HGD):c.8A>C (p.Glu3Ala)	rs200412910	0.00022
NM_001142800.2(EYS):c.3443+1G>T	rs373441420	0.00022
NM_001384474.1(LOXHD1):c.1571G>A (p.Arg524His)	rs187658135	0.00022
NM_004360.5(CDH1):c.2589C>T (p.Asn863=)	rs115817750	0.00022
NM_007294.4(BRCA1):c.4813T>C (p.Leu1605=)	rs80356833	0.00022
NM_007294.4(BRCA1):c.807G>A (p.Leu269=)	rs149867679	0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met)	rs79658334	0.00022
NM_000038.6(APC):c.1419G>A (p.Gln473=)	rs141579422	0.00021
NM_000038.6(APC):c.6782C>T (p.Pro2261Leu)	rs376494248	0.00021
NM_000059.4(BRCA2):c.1123C>T (p.Pro375Ser)	rs80358408	0.00021
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=)	rs11571654	0.00021
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)	rs80358755	0.00021
NM_000070.3(CAPN3):c.1818G>A (p.Ser606=)	rs28364528	0.00021
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)	rs199897298	0.00021
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu)	rs143473912	0.00021
NM_000465.4(BARD1):c.842C>T (p.Pro281Leu)	rs367890377	0.00021
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)	rs63751132	0.00021
NM_001164508.2(NEB):c.22432C>T (p.Arg7478Cys)	rs202050860	0.00021
NM_002878.4(RAD51D):c.983C>T (p.Thr328Ile)	rs138969595	0.00021
NM_004360.5(CDH1):c.8C>G (p.Pro3Arg)	rs587782484	0.00021
NM_005373.3(MPL):c.209C>T (p.Pro70Leu)	rs61754776	0.00021
NM_005591.4(MRE11):c.1491C>T (p.Ile497=)	rs199634245	0.00021
NM_005591.4(MRE11):c.845+11T>C	rs140145979	0.00021
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys)	rs28897683	0.00021
NM_007294.4(BRCA1):c.3804T>C (p.Asn1268=)	rs140588714	0.00021
NM_024675.4(PALB2):c.1281T>C (p.Ala427=)	rs138697796	0.00021
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu)	rs28941773	0.00020
NM_000038.6(APC):c.3006C>T (p.Ala1002=)	rs72541810	0.00020
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val)	rs55875643	0.00020
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)	rs63750361	0.00020
NM_000546.6(TP53):c.74+14T>C	rs184743157	0.00020
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val)	rs35352891	0.00020
NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr)	rs189174414	0.00020
NM_007294.4(BRCA1):c.1459G>T (p.Val487Phe)	rs369588942	0.00020
NM_000022.4(ADA):c.986C>T (p.Ala329Val)	rs121908715	0.00019
NM_000038.6(APC):c.564A>G (p.Gln188=)	rs377493489	0.00019
NM_000038.6(APC):c.6510A>C (p.Pro2170=)	rs138571760	0.00019
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)	rs137882485	0.00019
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)	rs147187700	0.00019
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)	rs56399857	0.00019
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly)	rs56403624	0.00019
NM_000059.4(BRCA2):c.8487+8G>A	rs81002838	0.00019
NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg)	rs55847618	0.00019
NM_000075.4(CDK4):c.306A>G (p.Thr102=)	rs201202764	0.00019
NM_000277.3(PAH):c.506G>A (p.Arg169His)	rs199475679	0.00019
NM_000465.4(BARD1):c.57G>A (p.Glu19=)	rs730881406	0.00019
NM_000520.6(HEXA):c.1421+14G>C	rs201497629	0.00019
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala)	rs35993958	0.00019
NM_000551.4(VHL):c.341-6C>T	rs191201783	0.00019
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)	rs115407852	0.00019
NM_001360.3(DHCR7):c.99-5C>T	rs372886043	0.00019
NM_002435.3(MPI):c.656G>A (p.Arg219Gln)	rs104894489	0.00019
NM_002485.5(NBN):c.37+6G>A	rs540868733	0.00019
NM_002878.4(RAD51D):c.196G>A (p.Val66Met)	rs56026142	0.00019
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg)	rs137853150	0.00019
NM_006231.4(POLE):c.3378+10A>G	rs193075152	0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)	rs139366548	0.00019
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)	rs201312386	0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)	rs201709513	0.00019
NM_000038.6(APC):c.3374T>C (p.Val1125Ala)	rs377278397	0.00018
NM_000038.6(APC):c.5009C>T (p.Ala1670Val)	rs202228932	0.00018
NM_000038.6(APC):c.6637A>G (p.Met2213Val)	rs186926737	0.00018
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe)	rs35962982	0.00018
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val)	rs11571653	0.00018
NM_000059.4(BRCA2):c.7976+23C>T	rs183623188	0.00018
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met)	rs59004709	0.00018
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu)	rs149095128	0.00018
NM_000159.4(GCDH):c.572T>C (p.Met191Thr)	rs149120354	0.00018
NM_000455.5(STK11):c.618G>A (p.Ala206=)	rs370976710	0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	rs121434629	0.00018
NM_000546.6(TP53):c.935C>G (p.Thr312Ser)	rs145151284	0.00018
NM_001048174.2(MUTYH):c.1102+9A>T	rs587780742	0.00018
NM_002878.4(RAD51D):c.904-3C>T	rs45478491	0.00018
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met)	rs114269482	0.00018
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu)	rs80357201	0.00018
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser)	rs80357087	0.00018
NM_007294.4(BRCA1):c.5406+33A>T	rs80358092	0.00018
NM_020975.6(RET):c.1531G>A (p.Glu511Lys)	rs201553718	0.00018
NM_032043.3(BRIP1):c.36G>T (p.Gly12=)	rs45566938	0.00018
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys)	rs201004111	0.00017
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe)	rs150882838	0.00017
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly)	rs780049836	0.00017
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)	rs199821556	0.00017
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)	rs41295278	0.00017
NM_000441.2(SLC26A4):c.919-18T>G	rs767147359	0.00017
NM_000465.4(BARD1):c.1339C>G (p.Leu447Val)	rs376727038	0.00017
NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg)	rs727503147	0.00017
NM_003000.3(SDHB):c.765+13G>A	rs115561881	0.00017
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu)	rs546510242	0.00017
NM_020975.6(RET):c.1118C>T (p.Ala373Val)	rs546866208	0.00017
NM_024675.4(PALB2):c.1564C>T (p.Pro522Ser)	rs373876101	0.00017
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val)	rs141458731	0.00017
NM_000038.6(APC):c.2205G>A (p.Ala735=)	rs141001261	0.00016
NM_000038.6(APC):c.6669A>G (p.Ser2223=)	rs372680843	0.00016
NM_000038.6(APC):c.7625A>G (p.Asn2542Ser)	rs151163793	0.00016
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)	rs201314561	0.00016
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=)	rs45525041	0.00016
NM_000059.4(BRCA2):c.9649-20C>T	rs56177715	0.00016
NM_000077.5(CDKN2A):c.384G>A (p.Arg128=)	rs199901898	0.00016
NM_000179.3(MSH6):c.2925C>T (p.Asn975=)	rs139026662	0.00016
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)	rs104894423	0.00016
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)	rs104895080	0.00016
NM_000314.8(PTEN):c.234C>T (p.Thr78=)	rs35917308	0.00016
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)	rs200752969	0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)	rs80034486	0.00016
NM_001128425.2(MUTYH):c.42C>T (p.Ile14=)	rs202240122	0.00016
NM_001164508.2(NEB):c.3879+8G>A	rs376511134	0.00016
NM_002485.5(NBN):c.278C>T (p.Ser93Leu)	rs12721593	0.00016
NM_002691.4(POLD1):c.2006+16C>T	rs372942171	0.00016
NM_004360.5(CDH1):c.1568A>G (p.Tyr523Cys)	rs553907248	0.00016
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln)	rs369697947	0.00016
NM_020975.6(RET):c.3188-9C>T	rs551159582	0.00016
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)	rs137852986	0.00016
NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro)	rs143026267	0.00016
NM_000038.6(APC):c.2586C>G (p.Asn862Lys)	rs147972247	0.00015
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)	rs201199629	0.00015
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr)	rs747026964	0.00015
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)	rs41295280	0.00015
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg)	rs140754514	0.00015
NM_000277.3(PAH):c.442-18G>A	rs149538764	0.00015
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)	rs121918019	0.00015
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)	rs121909021	0.00015
NM_001040716.2(PC):c.786G>T (p.Glu262Asp)	rs200030109	0.00015
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)	rs200165598	0.00015
NM_002485.5(NBN):c.38-10T>A	rs556807466	0.00015
NM_004004.6(GJB2):c.241C>G (p.Leu81Val)	rs145216882	0.00015
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)	rs376898963	0.00015
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn)	rs372989292	0.00015
NM_004360.5(CDH1):c.394G>A (p.Val132Ile)	rs142498771	0.00015
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn)	rs143965148	0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)	rs141568342	0.00015
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys)	rs28897686	0.00015
NM_020975.6(RET):c.2522C>T (p.Pro841Leu)	rs149891333	0.00015
NM_024675.4(PALB2):c.1794G>A (p.Leu598=)	rs182494675	0.00015
NM_000049.4(ASPA):c.427A>G (p.Ile143Val)	rs199565861	0.00014
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met)	rs80358656	0.00014
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)	rs147764579	0.00014
NM_000159.4(GCDH):c.1198G>A (p.Val400Met)	rs121434372	0.00014
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)	rs61748083	0.00014
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly)	rs63750650	0.00014
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr)	rs377403073	0.00014
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile)	rs757475924	0.00014
NM_000520.6(HEXA):c.548T>A (p.Leu183His)	rs185797496	0.00014
NM_000546.6(TP53):c.672+18G>C	rs199578278	0.00014
NM_000551.4(VHL):c.246C>T (p.Arg82=)	rs587780993	0.00014
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys)	rs144598063	0.00014
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)	rs142808899	0.00014
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)	rs181396238	0.00014
NM_002485.5(NBN):c.266G>C (p.Arg89Pro)	rs747315554	0.00014
NM_002691.4(POLD1):c.2251-8G>A	rs56051075	0.00014
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr)	rs201004645	0.00014
NM_004329.3(BMPR1A):c.1235T>C (p.Val412Ala)	rs576247658	0.00014
NM_004329.3(BMPR1A):c.676-6A>C	rs186999445	0.00014
NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn)	rs138800446	0.00014
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=)	rs587780890	0.00014
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)	rs587780179	0.00014
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn)	rs41293447	0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=)	rs386834048	0.00014
NM_020975.6(RET):c.1017G>A (p.Ser339=)	rs369810881	0.00014
NM_020975.6(RET):c.1063+9G>A	rs765463636	0.00014
NM_024675.4(PALB2):c.2586+10A>G	rs373321719	0.00014
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter)	rs398124598	0.00014
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)	rs200788251	0.00013
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)	rs138945081	0.00013
NM_000038.6(APC):c.1548+17T>C	rs367690523	0.00013
NM_000038.6(APC):c.450A>G (p.Lys150=)	rs116020626	0.00013
NM_000049.4(ASPA):c.212G>A (p.Arg71His)	rs104894553	0.00013
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln)	rs376107921	0.00013
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)	rs141656719	0.00013
NM_000071.3(CBS):c.146C>T (p.Pro49Leu)	rs148865119	0.00013
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser)	rs144890720	0.00013
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)	rs755922289	0.00013
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe)	rs149775657	0.00013
NM_000159.4(GCDH):c.1244-15A>G	rs201407990	0.00013
NM_000179.3(MSH6):c.187T>C (p.Ser63Pro)	rs763702846	0.00013
NM_000179.3(MSH6):c.59C>T (p.Ala20Val)	rs63750664	0.00013
NM_000251.3(MSH2):c.-3G>C	rs587779960	0.00013
NM_000492.4(CFTR):c.1679+16T>C	rs397508262	0.00013
NM_000535.7(PMS2):c.255G>A (p.Leu85=)	rs200491279	0.00013
NM_000551.4(VHL):c.629G>A (p.Arg210Gln)	rs138780791	0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)	rs121908102	0.00013
NM_001127511.3(APC):c.119G>C (p.Ser40Thr)	rs587778028	0.00013
NM_001384474.1(LOXHD1):c.5584C>T (p.Arg1862Trp)	rs201994383	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_004168.4(SDHA):c.1979C>G (p.Ala660Gly)	rs191412461	0.00013
NM_004360.5(CDH1):c.1020G>A (p.Thr340=)	rs61747632	0.00013
NM_006231.4(POLE):c.6004+5G>T	rs372169366	0.00013
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp)	rs199708878	0.00013
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=)	rs62625305	0.00013
NM_007294.4(BRCA1):c.2773A>C (p.Ile925Leu)	rs4986847	0.00013
NM_007294.4(BRCA1):c.5194-18G>T	rs80358090	0.00013
NM_020975.6(RET):c.1893C>T (p.Asp631=)	rs55846256	0.00013
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln)	rs146377793	0.00013
NM_024675.4(PALB2):c.48+7G>C	rs190626072	0.00013
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	rs201527662	0.00013
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp)	rs200794097	0.00012
NM_000038.6(APC):c.6873A>T (p.Gln2291His)	rs148878262	0.00012
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter)	rs191905539	0.00012
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser)	rs150478207	0.00012
NM_000314.8(PTEN):c.1197A>G (p.Gln399=)	rs374684043	0.00012
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)	rs137852870	0.00012
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)	rs138818907	0.00012
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr)	rs368957150	0.00012
NM_004360.5(CDH1):c.1143G>C (p.Lys381Asn)	rs143727462	0.00012
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val)	rs138135866	0.00012
NM_004360.5(CDH1):c.304G>A (p.Ala102Thr)	rs368492235	0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala)	rs80357467	0.00012
NM_012144.4(DNAI1):c.1929C>A (p.Ile643=)	rs146434058	0.00012
NM_015506.3(MMACHC):c.364C>A (p.His122Asn)	rs372918203	0.00012
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)	rs121917777	0.00012
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val)	rs149331537	0.00012
NM_000038.6(APC):c.277C>G (p.Leu93Val)	rs201567345	0.00011
NM_000053.4(ATP7B):c.-676A>G	rs1021025464	0.00011
NM_000053.4(ATP7B):c.3G>A (p.Met1Ile)	rs750530407	0.00011
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile)	rs80358479	0.00011
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile)	rs28897715	0.00011
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro)	rs56172926	0.00011
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser)	rs79483201	0.00011
NM_000059.4(BRCA2):c.9501+9A>C	rs81002867	0.00011
NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys)	rs56005131	0.00011
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser)	rs34014629	0.00011
NM_000179.3(MSH6):c.3674C>T (p.Thr1225Met)	rs63750370	0.00011
NM_000179.3(MSH6):c.628-7C>A	rs373129248	0.00011
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly)	rs554012110	0.00011
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)	rs267608051	0.00011
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)	rs104895081	0.00011
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu)	rs35107951	0.00011
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala)	rs548407418	0.00011
NM_000251.3(MSH2):c.198C>T (p.Tyr66=)	rs730881784	0.00011
NM_000251.3(MSH2):c.2203A>G (p.Ile735Val)	rs2229061	0.00011
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter)	rs551060742	0.00011
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser)	rs151129360	0.00011
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)	rs372030650	0.00011
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)	rs202004587	0.00011
NM_000455.5(STK11):c.1038C>T (p.Gly346=)	rs767565606	0.00011
NM_000455.5(STK11):c.920+5G>A	rs587780013	0.00011
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val)	rs201140528	0.00011
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)	rs397508137	0.00011
NM_000492.4(CFTR):c.2620-97C>T	rs146376436	0.00011
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)	rs747754623	0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)	rs191456345	0.00011
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=)	rs587779406	0.00011
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr)	rs63751023	0.00011
NM_000546.6(TP53):c.97-9C>T	rs202217267	0.00011
NM_000546.6(TP53):c.993+223T>G	rs3021068	0.00011
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter)	rs12118058	0.00011
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)	rs199422209	0.00011
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu)	rs750112288	0.00011
NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu)	rs141679530	0.00011
NM_001370259.2(MEN1):c.339C>T (p.Ser113=)	rs559635859	0.00011
NM_001370259.2(MEN1):c.492C>T (p.Ala164=)	rs146759807	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_004360.5(CDH1):c.*8G>A	rs201223411	0.00011
NM_004360.5(CDH1):c.2451G>A (p.Ala817=)	rs149450874	0.00011
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly)	rs121964872	0.00011
NM_005732.4(RAD50):c.3790C>T (p.Leu1264Phe)	rs199579239	0.00011
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser)	rs138564205	0.00011
NM_006231.4(POLE):c.6658-7C>A	rs531482240	0.00011
NM_006231.4(POLE):c.940T>G (p.Ser314Ala)	rs770403791	0.00011
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=)	rs41286292	0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys)	rs41286300	0.00011
NM_018006.5(TRMU):c.835G>A (p.Val279Met)	rs387907022	0.00011
NM_020975.6(RET):c.1522+35C>T	rs377130948	0.00011
NM_020975.6(RET):c.1642G>A (p.Gly548Ser)	rs374461212	0.00011
NM_020975.6(RET):c.2556C>G (p.Ile852Met)	rs377767426	0.00011
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr)	rs45510998	0.00011
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr)	rs28363307	0.00011
NM_153717.3(EVC):c.982C>T (p.Leu328Phe)	rs199916502	0.00011
NM_000018.4(ACADVL):c.62+9G>A	rs369512281	0.00010
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)	rs77718928	0.00010
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)	rs118204429	0.00010
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)	rs200381392	0.00010
NM_000055.4(BCHE):c.1004T>C (p.Leu335Pro)	rs104893684	0.00010
NM_000059.4(BRCA2):c.8633-16C>G	rs81002818	0.00010
NM_000071.3(CBS):c.770C>T (p.Thr257Met)	rs758236584	0.00010
NM_000128.4(F11):c.1613C>T (p.Pro538Leu)	rs139695003	0.00010
NM_000153.4(GALC):c.195G>C (p.Gly65=)	rs886042057	0.00010
NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser)	rs587778531	0.00010
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys)	rs542838372	0.00010
NM_000179.3(MSH6):c.1875C>T (p.Ser625=)	rs63749886	0.00010
NM_000179.3(MSH6):c.2417C>G (p.Ser806Cys)	rs372990379	0.00010
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His)	rs147852216	0.00010
NM_000249.4(MLH1):c.-42C>T	rs41285097	0.00010
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)	rs17217723	0.00010
NM_000286.3(PEX12):c.681-2A>C	rs187526749	0.00010
NM_000314.8(PTEN):c.579G>A (p.Leu193=)	rs568851024	0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met)	rs137852327	0.00010
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val)	rs111033423	0.00010
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn)	rs74315466	0.00010
NM_000535.7(PMS2):c.2276-10A>G	rs573900018	0.00010
NM_000642.3(AGL):c.3290G>A (p.Arg1097His)	rs185947256	0.00010
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=)	rs200553205	0.00010
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)	rs201114717	0.00010
NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr)	rs587780744	0.00010
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)	rs199955501	0.00010
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His)	rs542266962	0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)	rs104893688	0.00010
NM_001378454.1(ALMS1):c.8883G>A (p.Pro2961=)	rs367862140	0.00010
NM_002225.5(IVD):c.707C>T (p.Thr236Ile)	rs146861563	0.00010
NM_002435.3(MPI):c.748G>A (p.Gly250Ser)	rs748090636	0.00010
NM_004168.4(SDHA):c.830C>T (p.Thr277Met)	rs367721665	0.00010
NM_006231.4(POLE):c.6531+6G>T	rs774747998	0.00010
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile)	rs121917840	0.00010
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)	rs546989392	0.00010
NM_007194.4(CHEK2):c.1095+19G>A	rs200020484	0.00010
NM_007294.4(BRCA1):c.4934G>C (p.Arg1645Thr)	rs70953661	0.00010
NM_015166.4(MLC1):c.95C>T (p.Ala32Val)	rs200382943	0.00010
NM_024675.4(PALB2):c.899C>T (p.Thr300Ile)	rs528541334	0.00010
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)	rs138043021	0.00010
NM_152564.5(VPS13B):c.6657+1G>A	rs180177366	0.00010
NR_003051.4(RMRP):n.244A>G	rs551450545	0.00010
NM_000017.4(ACADS):c.989G>A (p.Arg330His)	rs199633532	0.00009
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)	rs138834083	0.00009
NM_000018.4(ACADVL):c.520G>A (p.Val174Met)	rs369560930	0.00009
NM_000022.4(ADA):c.632G>A (p.Arg211His)	rs121908716	0.00009
NM_000038.6(APC):c.1958+10G>T	rs375175370	0.00009
NM_000051.4(ATM):c.1351C>T (p.Arg451Cys)	rs201719927	0.00009
NM_000051.4(ATM):c.3628A>G (p.Met1210Val)	rs138212452	0.00009
NM_000053.4(ATP7B):c.2731-2A>G	rs367956522	0.00009
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)	rs374094065	0.00009
NM_000059.4(BRCA2):c.10087A>G (p.Ile3363Val)	rs55881945	0.00009
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser)	rs80358572	0.00009
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=)	rs45520945	0.00009
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=)	rs41293491	0.00009
NM_000059.4(BRCA2):c.6338A>G (p.Asn2113Ser)	rs80358874	0.00009
NM_000059.4(BRCA2):c.6475C>G (p.Gln2159Glu)	rs398122558	0.00009
NM_000059.4(BRCA2):c.7601C>T (p.Ala2534Val)	rs74047012	0.00009
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser)	rs142899125	0.00009
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile)	rs80359069	0.00009
NM_000152.5(GAA):c.1979G>A (p.Arg660His)	rs374143224	0.00009
NM_000179.3(MSH6):c.1730G>A (p.Arg577His)	rs376220212	0.00009
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr)	rs63751225	0.00009
NM_000251.3(MSH2):c.114C>G (p.Asp38Glu)	rs587779074	0.00009
NM_000251.3(MSH2):c.2308A>G (p.Ile770Val)	rs63750684	0.00009
NM_000251.3(MSH2):c.2802G>A (p.Thr934=)	rs150259097	0.00009
NM_000251.3(MSH2):c.367-19A>T	rs730881783	0.00009
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro)	rs63751107	0.00009
NM_000277.3(PAH):c.434A>T (p.Asp145Val)	rs140175796	0.00009
NM_000317.3(PTS):c.317C>T (p.Thr106Met)	rs200712908	0.00009
NM_000441.2(SLC26A4):c.1796C>T (p.Ala599Val)	rs201709908	0.00009
NM_000455.5(STK11):c.787T>C (p.Leu263=)	rs372378119	0.00009
NM_000465.4(BARD1):c.1059C>G (p.Pro353=)	rs368649242	0.00009
NM_000528.4(MAN2B1):c.2299C>T (p.Gln767Ter)	rs779769525	0.00009
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)	rs116788608	0.00009
NM_000546.6(TP53):c.6G>A (p.Glu2=)	rs143458271	0.00009
NM_000546.6(TP53):c.91G>A (p.Val31Ile)	rs201753350	0.00009
NM_000546.6(TP53):c.993+13G>C	rs369599972	0.00009
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)	rs28940298	0.00009
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro)	rs398123508	0.00009
NM_001048174.2(MUTYH):c.606+14C>G	rs752537118	0.00009
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)	rs140342925	0.00009
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu)	rs375909006	0.00009
NM_001164508.2(NEB):c.5939T>C (p.Leu1980Ser)	rs375412223	0.00009
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)	rs373740199	0.00009
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)	rs767533946	0.00009
NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp)	rs777425801	0.00009
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp)	rs143329068	0.00009
NM_001370259.2(MEN1):c.655-4del	rs748005956	0.00009
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)	rs201604102	0.00009
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly)	rs563393715	0.00009
NM_001378454.1(ALMS1):c.9908-13C>T	rs373325114	0.00009
NM_002691.4(POLD1):c.55C>T (p.Arg19Cys)	rs368033860	0.00009
NM_002878.4(RAD51D):c.394G>A (p.Val132Ile)	rs201141245	0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)	rs104894408	0.00009
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln)	rs199844384	0.00009
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln)	rs376391115	0.00009
NM_004360.5(CDH1):c.1359C>T (p.His453=)	rs114861467	0.00009
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile)	rs370864592	0.00009
NM_004360.5(CDH1):c.1996A>C (p.Asn666His)	rs150427791	0.00009
NM_004360.5(CDH1):c.387+5G>A	rs113055163	0.00009
NM_005609.4(PYGM):c.425-26A>G	rs764313717	0.00009
NM_006231.4(POLE):c.2174-11G>A	rs111570840	0.00009
NM_007194.4(CHEK2):c.319+2T>A	rs587782401	0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)	rs28909982	0.00009
NM_007194.4(CHEK2):c.444+1G>A	rs121908698	0.00009
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=)	rs372017932	0.00009
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys)	rs28897673	0.00009
NM_020975.6(RET):c.1530C>T (p.Ala510=)	rs553492964	0.00009
NM_020975.6(RET):c.2409C>T (p.Ile803=)	rs535051804	0.00009
NM_020975.6(RET):c.2611G>A (p.Val871Ile)	rs145170911	0.00009
NM_024675.4(PALB2):c.12T>C (p.Pro4=)	rs567706422	0.00009
NM_024675.4(PALB2):c.1431C>T (p.Thr477=)	rs515726068	0.00009
NM_024675.4(PALB2):c.1623G>A (p.Arg541=)	rs745665968	0.00009
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)	rs62625271	0.00009
NM_024675.4(PALB2):c.344G>T (p.Gly115Val)	rs145598272	0.00009
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)	rs200283306	0.00009
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala)	rs587780256	0.00009
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val)	rs138207257	0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)	rs201105958	0.00009
NM_206933.4(USH2A):c.2167+5G>A	rs771583281	0.00009
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys)	rs28940872	0.00008
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp)	rs121908003	0.00008
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys)	rs367905430	0.00008
NM_000048.4(ASL):c.337C>T (p.Arg113Trp)	rs767543051	0.00008
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg)	rs587779867	0.00008
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)	rs587783299	0.00008
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile)	rs541208827	0.00008
NM_000059.4(BRCA2):c.3218A>G (p.Gln1073Arg)	rs80358566	0.00008
NM_000059.4(BRCA2):c.3420T>C (p.Ser1140=)	rs118093942	0.00008
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)	rs80358730	0.00008
NM_000059.4(BRCA2):c.517-4C>G	rs81002804	0.00008
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln)	rs11571640	0.00008
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu)	rs764323652	0.00008
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn)	rs758390382	0.00008
NM_000152.5(GAA):c.533G>A (p.Arg178His)	rs762267535	0.00008
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)	rs577915581	0.00008
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)	rs886042086	0.00008
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly)	rs199876321	0.00008
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)	rs104895085	0.00008
NM_000249.4(MLH1):c.1709A>G (p.Asn570Ser)	rs375853155	0.00008
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln)	rs146567853	0.00008
NM_000251.3(MSH2):c.1488A>G (p.Leu496=)	rs267607960	0.00008
NM_000251.3(MSH2):c.820A>G (p.Ile274Val)	rs371944271	0.00008
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)	rs5030856	0.00008
NM_000277.3(PAH):c.204A>T (p.Arg68Ser)	rs76394784	0.00008
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)	rs143010236	0.00008
NM_000380.4(XPA):c.731A>G (p.His244Arg)	rs144725456	0.00008
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln)	rs564428355	0.00008
NM_000492.4(CFTR):c.1209+80G>A	rs948980243	0.00008
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe)	rs143456784	0.00008
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser)	rs200936836	0.00008
NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr)	rs192816572	0.00008
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met)	rs147718169	0.00008
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys)	rs144885874	0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)	rs201540674	0.00008
NM_001378454.1(ALMS1):c.451-5T>G	rs774098604	0.00008
NM_002691.4(POLD1):c.2718-4G>A	rs755348897	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_004360.5(CDH1):c.164T>G (p.Val55Gly)	rs587778174	0.00008
NM_006231.4(POLE):c.3378+7G>T	rs755370377	0.00008
NM_007194.4(CHEK2):c.*7T>C	rs121908710	0.00008
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe)	rs587780189	0.00008
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp)	rs180177314	0.00008
NM_020975.6(RET):c.1597G>A (p.Gly533Ser)	rs75873440	0.00008
NM_020975.6(RET):c.2081G>A (p.Arg694Gln)	rs141185224	0.00008
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter)	rs752924362	0.00008
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)	rs878855107	0.00008
NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala)	rs376619846	0.00008
NM_054012.4(ASS1):c.773C>T (p.Ala258Val)	rs753078725	0.00008
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter)	rs144539572	0.00008
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe)	rs762114560	0.00007
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg)	rs121434278	0.00007
NM_000018.4(ACADVL):c.205-8C>G	rs774353448	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_000038.6(APC):c.2461G>A (p.Val821Ile)	rs138498551	0.00007
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr)	rs139618756	0.00007
NM_000038.6(APC):c.4919G>A (p.Arg1640Gln)	rs529480958	0.00007
NM_000038.6(APC):c.7468G>A (p.Asp2490Asn)	rs538230198	0.00007
NM_000038.6(APC):c.7471A>G (p.Met2491Val)	rs375674083	0.00007
NM_000038.6(APC):c.7717A>G (p.Ile2573Val)	rs145444830	0.00007
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)	rs147287751	0.00007
NM_000038.6(APC):c.934-14C>T	rs778707022	0.00007
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys)	rs28940286	0.00007
NM_000051.4(ATM):c.2220A>G (p.Ala740=)	rs56353517	0.00007
NM_000051.4(ATM):c.496+4T>C	rs587781375	0.00007
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)	rs56123940	0.00007
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=)	rs41293473	0.00007
NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg)	rs431825302	0.00007
NM_000059.4(BRCA2):c.3839A>T (p.Asp1280Val)	rs56337919	0.00007
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val)	rs80358916	0.00007
NM_000059.4(BRCA2):c.8953+16C>T	rs81002892	0.00007
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu)	rs201617914	0.00007
NM_000110.4(DPYD):c.220C>T (p.Arg74Ter)	rs189768576	0.00007
NM_000136.3(FANCC):c.843+5G>A	rs369082921	0.00007
NM_000151.4(G6PC1):c.447G>A (p.Arg149=)	rs549712764	0.00007
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys)	rs150938052	0.00007
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr)	rs202127474	0.00007
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg)	rs63750527	0.00007
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala)	rs202038499	0.00007
NM_000249.4(MLH1):c.1558+5G>A	rs199935667	0.00007
NM_000249.4(MLH1):c.1990-6G>A	rs117221851	0.00007
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu)	rs148317871	0.00007
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly)	rs41295282	0.00007
NM_000249.4(MLH1):c.69A>G (p.Glu23=)	rs63750555	0.00007
NM_000251.3(MSH2):c.1560A>G (p.Gly520=)	rs63750820	0.00007
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr)	rs63750466	0.00007
NM_000282.4(PCCA):c.1284+1G>A	rs752761437	0.00007
NM_000383.4(AIRE):c.652+1G>T	rs199612115	0.00007
NM_000441.2(SLC26A4):c.929C>T (p.Ala310Val)	rs540008835	0.00007
NM_000455.5(STK11):c.1127A>C (p.Glu376Ala)	rs373888280	0.00007
NM_000455.5(STK11):c.357C>T (p.Asn119=)	rs372511774	0.00007
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser)	rs587781976	0.00007
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)	rs142920240	0.00007
NM_000492.4(CFTR):c.202A>G (p.Lys68Glu)	rs397508332	0.00007
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)	rs151048781	0.00007
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)	rs199739859	0.00007
NM_000535.7(PMS2):c.384G>A (p.Ser128=)	rs371342884	0.00007
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His)	rs559088058	0.00007
NM_000546.6(TP53):c.248C>T (p.Ala83Val)	rs201717599	0.00007
NM_000551.4(VHL):c.135G>A (p.Pro45=)	rs773519476	0.00007
NM_000551.4(VHL):c.25G>A (p.Asp9Asn)	rs587780730	0.00007
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)	rs121908958	0.00007
NM_001164508.2(NEB):c.24114+1G>A	rs755239192	0.00007
NM_001384474.1(LOXHD1):c.6071C>T (p.Thr2024Met)	rs369043488	0.00007
NM_001875.5(CPS1):c.167T>G (p.Met56Arg)	rs778958318	0.00007
NM_002225.5(IVD):c.550+1G>A	rs377147994	0.00007
NM_004004.6(GJB2):c.24G>A (p.Thr8=)	rs533231493	0.00007
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val)	rs200951235	0.00007
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn)	rs199886166	0.00007
NM_004646.4(NPHS1):c.1049C>T (p.Ser350Phe)	rs570069789	0.00007
NM_005476.7(GNE):c.737G>A (p.Arg246Gln)	rs121908629	0.00007
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)	rs104894178	0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His)	rs121908706	0.00007
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu)	rs201084748	0.00007
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys)	rs17883172	0.00007
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile)	rs28897690	0.00007
NM_007294.4(BRCA1):c.5278-14C>G	rs80358105	0.00007
NM_007294.4(BRCA1):c.593+3G>A	rs80358013	0.00007
NM_007294.4(BRCA1):c.692C>T (p.Thr231Met)	rs80357001	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_019098.5(CNGB3):c.1006G>T (p.Glu336Ter)	rs373862340	0.00007
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys)	rs375699023	0.00007
NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala)	rs730881887	0.00007
NM_024675.4(PALB2):c.2200A>T (p.Thr734Ser)	rs45543843	0.00007
NM_024675.4(PALB2):c.768C>T (p.Ser256=)	rs45487491	0.00007
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)	rs121908646	0.00007
NM_054012.4(ASS1):c.805G>A (p.Val269Met)	rs370595480	0.00007
NM_058216.3(RAD51C):c.14C>T (p.Thr5Met)	rs201523760	0.00007
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu)	rs573992101	0.00007
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro)	rs137852850	0.00007
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)	rs111033264	0.00007
NR_003051.3(RMRP):n.-22_-13dup10	rs1554651507	0.00007
NM_000016.6(ACADM):c.1247T>C (p.Ile416Thr)	rs760892123	0.00006
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter)	rs767774362	0.00006
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys)	rs539219309	0.00006
NM_000018.4(ACADVL):c.1679-6G>A	rs113994171	0.00006
NM_000018.4(ACADVL):c.62+18G>A	rs780776419	0.00006
NM_000022.4(ADA):c.446G>A (p.Arg149Gln)	rs121908737	0.00006
NM_000038.6(APC):c.3632T>G (p.Met1211Arg)	rs575268622	0.00006
NM_000038.6(APC):c.7574G>A (p.Arg2525His)	rs762034315	0.00006
NM_000038.6(APC):c.7888G>A (p.Val2630Ile)	rs199688874	0.00006
NM_000038.6(APC):c.789T>A (p.Gly263=)	rs767053295	0.00006
NM_000038.6(APC):c.7929A>G (p.Leu2643=)	rs138796072	0.00006
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser)	rs587778046	0.00006
NM_000049.4(ASPA):c.746A>T (p.Asp249Val)	rs104894552	0.00006
NM_000051.4(ATM):c.2804C>T (p.Thr935Met)	rs3218708	0.00006
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)	rs28904921	0.00006
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu)	rs139379666	0.00006
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met)	rs200290721	0.00006
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met)	rs776280797	0.00006
NM_000055.4(BCHE):c.1627C>T (p.Arg543Cys)	rs199660374	0.00006
NM_000059.4(BRCA2):c.1362A>G (p.Lys454=)	rs55919657	0.00006
NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala)	rs55968715	0.00006
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser)	rs28897718	0.00006
NM_000059.4(BRCA2):c.4915G>A (p.Val1639Ile)	rs80358716	0.00006
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile)	rs79456940	0.00006
NM_000059.4(BRCA2):c.7505G>A (p.Arg2502His)	rs56070345	0.00006
NM_000059.4(BRCA2):c.8421G>A (p.Ser2807=)	rs371278843	0.00006
NM_000059.4(BRCA2):c.9175A>G (p.Lys3059Glu)	rs80359174	0.00006
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser)	rs767106920	0.00006
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly)	rs201736037	0.00006
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)	rs121434548	0.00006
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr)	rs199907548	0.00006
NM_000082.4(ERCC8):c.613G>C (p.Ala205Pro)	rs121434326	0.00006
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)	rs121918528	0.00006
NM_000110.4(DPYD):c.2579del (p.Gln860fs)	rs746991079	0.00006
NM_000112.4(SLC26A2):c.1994A>C (p.His665Pro)	rs141798540	0.00006
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu)	rs201494304	0.00006
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser)	rs80338900	0.00006
NM_000158.4(GBE1):c.785G>A (p.Arg262His)	rs369574719	0.00006
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg)	rs372983141	0.00006
NM_000179.3(MSH6):c.1050C>T (p.Ala350=)	rs730881802	0.00006
NM_000179.3(MSH6):c.178T>C (p.Leu60=)	rs35819209	0.00006
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys)	rs376243329	0.00006
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile)	rs376799914	0.00006
NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp)	rs375459388	0.00006
NM_000179.3(MSH6):c.3824G>A (p.Cys1275Tyr)	rs150990541	0.00006
NM_000179.3(MSH6):c.643G>A (p.Val215Ile)	rs145959653	0.00006
NM_000179.3(MSH6):c.831A>C (p.Glu277Asp)	rs374486449	0.00006
NM_000187.4(HGD):c.808G>A (p.Gly270Arg)	rs120074174	0.00006
NM_000249.4(MLH1):c.1104G>A (p.Ser368=)	rs769364808	0.00006
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly)	rs63751612	0.00006
NM_000249.4(MLH1):c.954C>T (p.His318=)	rs146777069	0.00006
NM_000251.3(MSH2):c.2503A>C (p.Asn835His)	rs41295296	0.00006
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg)	rs41295182	0.00006
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)	rs80358254	0.00006
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)	rs398123292	0.00006
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp)	rs141371306	0.00006
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr)	rs368582085	0.00006
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu)	rs150719105	0.00006
NM_000310.4(PPT1):c.541G>A (p.Val181Met)	rs148412181	0.00006
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter)	rs72547561	0.00006
NM_000383.4(AIRE):c.798+1G>A	rs138489664	0.00006
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg)	rs371582179	0.00006
NM_000426.4(LAMA2):c.1300C>T (p.Arg434Ter)	rs1374568851	0.00006
NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer)	rs794727594	0.00006
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg)	rs111033316	0.00006
NM_000455.5(STK11):c.125G>T (p.Arg42Leu)	rs148830698	0.00006
NM_000455.5(STK11):c.842C>T (p.Pro281Leu)	rs121913322	0.00006
NM_000455.5(STK11):c.921-10G>A	rs183406870	0.00006
NM_000455.5(STK11):c.992G>A (p.Arg331Gln)	rs371264852	0.00006
NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln)	rs753479021	0.00006
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln)	rs200359745	0.00006
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)	rs74315475	0.00006
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val)	rs1801178	0.00006
NM_000492.4(CFTR):c.1679+18G>A	rs369294289	0.00006
NM_000497.4(CYP11B1):c.799+5G>C	rs193922542	0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)	rs80338681	0.00006
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)	rs121964959	0.00006
NM_000535.7(PMS2):c.353+6A>G	rs376449640	0.00006
NM_000535.7(PMS2):c.477G>A (p.Val159=)	rs147701251	0.00006
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln)	rs116314131	0.00006
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)	rs267606640	0.00006
NM_000642.3(AGL):c.4189G>A (p.Ala1397Thr)	rs375755924	0.00006
NM_000642.3(AGL):c.4260-12A>G	rs369973784	0.00006
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln)	rs113994145	0.00006
NM_001048174.2(MUTYH):c.729C>T (p.Asp243=)	rs730881838	0.00006
NM_001127511.3(APC):c.125G>A (p.Gly42Asp)	rs1057517570	0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)	rs137853190	0.00006
NM_001283009.2(RTEL1):c.3110-2A>T	rs377461417	0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala)	rs200334114	0.00006
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=)	rs199603690	0.00006
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=)	rs533251927	0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)	rs200287925	0.00006
NM_002617.4(PEX10):c.814_815del (p.Leu272fs)	rs61752093	0.00006
NM_002691.4(POLD1):c.17G>A (p.Arg6Gln)	rs778275831	0.00006
NM_002691.4(POLD1):c.2718-5C>T	rs368965066	0.00006
NM_002691.4(POLD1):c.358G>C (p.Gly120Arg)	rs746234949	0.00006
NM_002878.4(RAD51D):c.263+7G>A	rs56218020	0.00006
NM_002878.4(RAD51D):c.629C>T (p.Ala210Val)	rs376855484	0.00006
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu)	rs144547521	0.00006
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)	rs370644567	0.00006
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly)	rs376097289	0.00006
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn)	rs35606263	0.00006
NM_004360.5(CDH1):c.49-3C>T	rs587782366	0.00006
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe)	rs386833895	0.00006
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg)	rs144081869	0.00006
NM_006231.4(POLE):c.4150-12T>C	rs551697046	0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)	rs587780180	0.00006
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys)	rs137853010	0.00006
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)	rs121908701	0.00006
NM_007194.4(CHEK2):c.847-17T>C	rs199780411	0.00006
NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile)	rs587782770	0.00006
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=)	rs533802049	0.00006
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe)	rs41286294	0.00006
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=)	rs372002119	0.00006
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr)	rs80357102	0.00006
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His)	rs55746541	0.00006
NM_007294.4(BRCA1):c.2428A>T (p.Asn810Tyr)	rs28897682	0.00006
NM_007294.4(BRCA1):c.301+7G>A	rs80358113	0.00006
NM_007294.4(BRCA1):c.3608G>A (p.Arg1203Gln)	rs55930959	0.00006
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn)	rs28897691	0.00006
NM_007294.4(BRCA1):c.795T>C (p.Ser265=)	rs201441987	0.00006
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly)	rs55874646	0.00006
NM_012434.5(SLC17A5):c.533del (p.Thr178fs)	rs727504156	0.00006
NM_013339.4(ALG6):c.338G>A (p.Arg113His)	rs768372697	0.00006
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser)	rs121908345	0.00006
NM_015166.4(MLC1):c.715-5C>A	rs751850836	0.00006
NM_015346.4(ZFYVE26):c.3139+1G>A	rs137907310	0.00006
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)	rs201183360	0.00006
NM_020975.6(RET):c.1894G>A (p.Glu632Lys)	rs377767407	0.00006
NM_020975.6(RET):c.2116G>A (p.Val706Met)	rs137855422	0.00006
NM_024675.4(PALB2):c.109C>A (p.Arg37Ser)	rs200048921	0.00006
NM_024675.4(PALB2):c.1273G>A (p.Val425Met)	rs576081828	0.00006
NM_024675.4(PALB2):c.765T>C (p.Asp255=)	rs45465299	0.00006
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	rs104886142	0.00006
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu)	rs140881518	0.00006
NM_058216.3(RAD51C):c.134A>G (p.Glu45Gly)	rs587781383	0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter)	rs146960401	0.00006
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His)	rs371518124	0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)	rs369522997	0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)	rs527236139	0.00006
NM_206933.4(USH2A):c.8682-9A>G	rs372347027	0.00006
NM_000017.4(ACADS):c.1095G>T (p.Gln365His)	rs368469075	0.00005
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)	rs113994168	0.00005
NM_000022.4(ADA):c.872C>T (p.Ser291Leu)	rs121908721	0.00005
NM_000023.4(SGCA):c.614C>A (p.Pro205His)	rs757481230	0.00005
NM_000030.3(AGXT):c.698G>A (p.Arg233His)	rs121908527	0.00005
NM_000038.6(APC):c.3552C>T (p.Ala1184=)	rs759407858	0.00005
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys)	rs201185479	0.00005
NM_000038.6(APC):c.385G>C (p.Glu129Gln)	rs376628500	0.00005
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser)	rs143796828	0.00005
NM_000038.6(APC):c.4399C>T (p.Pro1467Ser)	rs749142480	0.00005
NM_000038.6(APC):c.7878T>G (p.Thr2626=)	rs757020188	0.00005
NM_000038.6(APC):c.7986G>A (p.Glu2662=)	rs571645304	0.00005
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)	rs377349459	0.00005
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)	rs587782652	0.00005
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser)	rs137853285	0.00005
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln)	rs121907996	0.00005
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)	rs121907992	0.00005
NM_000055.4(BCHE):c.1177G>C (p.Gly393Arg)	rs115129687	0.00005
NM_000059.4(BRCA2):c.6024G>C (p.Lys2008Asn)	rs56324666	0.00005
NM_000059.4(BRCA2):c.6886A>C (p.Ile2296Leu)	rs576279166	0.00005
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=)	rs146430937	0.00005
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn)	rs80359051	0.00005
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr)	rs80359052	0.00005
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His)	rs80359105	0.00005
NM_000059.4(BRCA2):c.8807T>C (p.Leu2936Ser)	rs398122714	0.00005
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys)	rs80359195	0.00005
NM_000059.4(BRCA2):c.9592T>C (p.Cys3198Arg)	rs80359229	0.00005
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)	rs200646556	0.00005
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His)	rs190793093	0.00005
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu)	rs886042478	0.00005
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser)	rs369784333	0.00005
NM_000071.3(CBS):c.341C>T (p.Ala114Val)	rs121964964	0.00005
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter)	rs371334239	0.00005
NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu)	rs72549304	0.00005
NM_000110.4(DPYD):c.1651G>A (p.Ala551Thr)	rs777425216	0.00005
NM_000110.4(DPYD):c.2275C>T (p.Arg759Ter)	rs759372918	0.00005
NM_000135.4(FANCA):c.2T>C (p.Met1Thr)	rs769479800	0.00005
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly)	rs149277003	0.00005
NM_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.655G>A (p.Gly219Arg)	rs370950728	0.00005
NM_000153.4(GALC):c.195+15G>A	rs748140458	0.00005
NM_000155.4(GALT):c.602G>A (p.Arg201His)	rs111033735	0.00005
NM_000159.4(GCDH):c.428T>C (p.Val143Ala)	rs141456457	0.00005
NM_000179.3(MSH6):c.1746T>G (p.Phe582Leu)	rs201518545	0.00005
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser)	rs730881793	0.00005
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly)	rs63751450	0.00005
NM_000179.3(MSH6):c.3399T>C (p.Thr1133=)	rs61748084	0.00005
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=)	rs63749834	0.00005
NM_000179.3(MSH6):c.4000C>T (p.Arg1334Trp)	rs773763465	0.00005
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala)	rs564434147	0.00005
NM_000182.5(HADHA):c.180+3A>G	rs781222705	0.00005
NM_000187.4(HGD):c.158G>A (p.Arg53Gln)	rs200808744	0.00005
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn)	rs753472891	0.00005
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter)	rs201551805	0.00005
NM_000249.4(MLH1):c.1128T>C (p.Asp376=)	rs267607824	0.00005
NM_000249.4(MLH1):c.1154G>A (p.Arg385His)	rs63750430	0.00005
NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys)	rs35045067	0.00005
NM_000249.4(MLH1):c.438A>G (p.Gln146=)	rs377279035	0.00005
NM_000249.4(MLH1):c.80G>A (p.Arg27Gln)	rs138705565	0.00005
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)	rs63750796	0.00005
NM_000251.3(MSH2):c.1774A>G (p.Met592Val)	rs371614039	0.00005
NM_000251.3(MSH2):c.2211-6C>A	rs267608003	0.00005
NM_000251.3(MSH2):c.2400A>G (p.Leu800=)	rs201298777	0.00005
NM_000251.3(MSH2):c.885C>G (p.Asp295Glu)	rs201334592	0.00005
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp)	rs554073390	0.00005
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)	rs104894598	0.00005
NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser)	rs773767253	0.00005
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)	rs61753245	0.00005
NM_000295.5(SERPINA1):c.646+2T>C	rs112661131	0.00005
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu)	rs386833646	0.00005
NM_000314.8(PTEN):c.720C>T (p.Tyr240=)	rs190070312	0.00005
NM_000349.3(STAR):c.563G>A (p.Arg188His)	rs61736315	0.00005
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr)	rs119455954	0.00005
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)	rs376710410	0.00005
NM_000404.4(GLB1):c.602G>A (p.Arg201His)	rs189115557	0.00005
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile)	rs397516421	0.00005
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	rs111033256	0.00005
NM_000455.5(STK11):c.1254C>G (p.Cys418Trp)	rs587780715	0.00005
NM_000455.5(STK11):c.237C>T (p.Ile79=)	rs751859508	0.00005
NM_000455.5(STK11):c.366G>A (p.Lys122=)	rs376969448	0.00005
NM_000455.5(STK11):c.374+11C>T	rs368923696	0.00005
NM_000455.5(STK11):c.375-7G>A	rs587781176	0.00005
NM_000455.5(STK11):c.465-5C>T	rs567202367	0.00005
NM_000455.5(STK11):c.666C>T (p.Pro222=)	rs542189325	0.00005
NM_000455.5(STK11):c.678C>T (p.Asn226=)	rs748832988	0.00005
NM_000455.5(STK11):c.970C>G (p.Pro324Ala)	rs549474196	0.00005
NM_000465.4(BARD1):c.841C>T (p.Pro281Ser)	rs200059956	0.00005
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)	rs61750418	0.00005
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)	rs1800114	0.00005
NM_000492.4(CFTR):c.3874-4522A>G	rs895394181	0.00005
NM_000492.4(CFTR):c.3874-4A>G	rs201381687	0.00005
NM_000528.4(MAN2B1):c.2046+2T>A	rs748712495	0.00005
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg)	rs754733253	0.00005
NM_000532.5(PCCB):c.1127G>A (p.Arg376His)	rs142982097	0.00005
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys)	rs121964961	0.00005
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)	rs374722096	0.00005
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln)	rs587781934	0.00005
NM_000535.7(PMS2):c.738C>G (p.Pro246=)	rs202094399	0.00005
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)	rs182812968	0.00005
NM_000546.6(TP53):c.672+15T>C	rs140756213	0.00005
NM_000546.6(TP53):c.782+12C>T	rs17881780	0.00005
NM_000551.4(VHL):c.552C>T (p.Leu184=)	rs779157605	0.00005
NM_001048174.2(MUTYH):c.630C>T (p.Asn210=)	rs767327888	0.00005
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter)	rs201454788	0.00005
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly)	rs778030177	0.00005
NM_001164277.2(SLC37A4):c.1125-7_1125-6del	rs782342989	0.00005
NM_001164507.2(NEB):c.21340C>T (p.Arg7114Trp)	rs186686151	0.00005
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)	rs104886033	0.00005
NM_001370259.2(MEN1):c.1098A>T (p.Glu366Asp)	rs149383809	0.00005
NM_001370658.1(BTD):c.383G>A (p.Arg128His)	rs367902696	0.00005
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)	rs369102875	0.00005
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys)	rs369061090	0.00005
NM_001876.4(CPT1A):c.1163+1G>A	rs148059333	0.00005
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu)	rs80356779	0.00005
NM_002485.5(NBN):c.1398-10T>A	rs539960851	0.00005
NM_002691.4(POLD1):c.2717+14C>T	rs367945387	0.00005
NM_002878.4(RAD51D):c.145-14G>C	rs200470533	0.00005
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)	rs587781813	0.00005
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)	rs748089700	0.00005
NM_004360.5(CDH1):c.1019C>T (p.Thr340Met)	rs61747631	0.00005
NM_004360.5(CDH1):c.1224G>A (p.Ala408=)	rs200161607	0.00005
NM_004360.5(CDH1):c.1865A>G (p.Asn622Ser)	rs147925149	0.00005
NM_004360.5(CDH1):c.2336G>A (p.Arg779Gln)	rs587781311	0.00005
NM_004360.5(CDH1):c.2343A>T (p.Glu781Asp)	rs587780119	0.00005
NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys)	rs386833915	0.00005
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser)	rs138656762	0.00005
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)	rs113994207	0.00005
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser)	rs377119288	0.00005
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg)	rs367970442	0.00005
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys)	rs121917839	0.00005
NM_007194.4(CHEK2):c.15G>A (p.Ser5=)	rs145183886	0.00005
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His)	rs56272539	0.00005
NM_007294.4(BRCA1):c.1974G>C (p.Met658Ile)	rs55678461	0.00005
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala)	rs80356860	0.00005
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp)	rs376252276	0.00005
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe)	rs139207764	0.00005
NM_020975.6(RET):c.1942G>A (p.Val648Ile)	rs77711105	0.00005
NM_020975.6(RET):c.2393-9C>T	rs567543719	0.00005
NM_024675.4(PALB2):c.2773G>C (p.Val925Leu)	rs180177125	0.00005
NM_024675.4(PALB2):c.3035C>T (p.Thr1012Ile)	rs761032954	0.00005
NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp)	rs147045425	0.00005
NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu)	rs730881894	0.00005
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)	rs62625284	0.00005
NM_032043.3(BRIP1):c.1140+11G>A	rs369153270	0.00005
NM_052845.4(MMAB):c.562G>A (p.Val188Met)	rs768176676	0.00005
NM_058216.3(RAD51C):c.336G>A (p.Gly112=)	rs746122031	0.00005
NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg)	rs587780255	0.00005
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)	rs769864196	0.00005
NM_206933.4(USH2A):c.12295-3T>A	rs111033518	0.00005
NR_003051.3(RMRP):n.-19_-13dupTCTGTGA	rs1554651506	0.00005
NR_003051.4(RMRP):n.37C>A	rs549085067	0.00005
NM_000016.6(ACADM):c.388-5G>A	rs759254037	0.00004
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp)	rs28940875	0.00004
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys)	rs537072819	0.00004
NM_000017.4(ACADS):c.815G>A (p.Arg272His)	rs374726386	0.00004
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)	rs745832866	0.00004
NM_000018.4(ACADVL):c.342+15G>A	rs777751102	0.00004
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)	rs748936034	0.00004
NM_000038.6(APC):c.2838A>G (p.Thr946=)	rs142835322	0.00004
NM_000038.6(APC):c.317G>A (p.Arg106His)	rs201764637	0.00004
NM_000038.6(APC):c.4055T>C (p.Val1352Ala)	rs528724202	0.00004
NM_000038.6(APC):c.4395T>A (p.Ser1465Arg)	rs779898882	0.00004
NM_000038.6(APC):c.449A>G (p.Lys150Arg)	rs371085910	0.00004
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu)	rs368080169	0.00004
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe)	rs372418435	0.00004
NM_000038.6(APC):c.6639G>A (p.Met2213Ile)	rs35540155	0.00004
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala)	rs138137162	0.00004
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn)	rs369721828	0.00004
NM_000038.6(APC):c.8325G>A (p.Gly2775=)	rs770719841	0.00004
NM_000038.6(APC):c.995G>A (p.Arg332Gln)	rs377665107	0.00004
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro)	rs755359126	0.00004
NM_000048.4(ASL):c.578G>A (p.Arg193Gln)	rs373697663	0.00004
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)	rs587781347	0.00004
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala)	rs572564322	0.00004
NM_000051.4(ATM):c.4777-13T>A	rs371535082	0.00004
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln)	rs730881325	0.00004
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)	rs755554442	0.00004
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys)	rs55880859	0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)	rs587779884	0.00004
NM_000059.4(BRCA2):c.10222A>T (p.Lys3408Ter)	rs80358402	0.00004
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala)	rs56016241	0.00004
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp)	rs398122731	0.00004
NM_000059.4(BRCA2):c.2848G>A (p.Val950Ile)	rs775903570	0.00004
NM_000059.4(BRCA2):c.4094G>A (p.Cys1365Tyr)	rs80358657	0.00004
NM_000059.4(BRCA2):c.4531G>A (p.Glu1511Lys)	rs376338226	0.00004
NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val)	rs56386506	0.00004
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr)	rs80358803	0.00004
NM_000059.4(BRCA2):c.5869A>G (p.Ile1957Val)	rs80358817	0.00004
NM_000059.4(BRCA2):c.7040C>A (p.Pro2347Gln)	rs80358929	0.00004
NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val)	rs397507382	0.00004
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser)	rs80359055	0.00004
NM_000059.4(BRCA2):c.8702G>A (p.Gly2901Asp)	rs80359129	0.00004
NM_000059.4(BRCA2):c.8723T>G (p.Val2908Gly)	rs28897753	0.00004
NM_000059.4(BRCA2):c.887A>G (p.Tyr296Cys)	rs45457795	0.00004
NM_000059.4(BRCA2):c.9677A>G (p.Tyr3226Cys)	rs80359237	0.00004
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu)	rs199806879	0.00004
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp)	rs528417986	0.00004
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)	rs569681869	0.00004
NM_000098.3(CPT2):c.98del (p.Gln33fs)	rs917744011	0.00004
NM_000128.4(F11):c.422C>T (p.Thr141Met)	rs200593979	0.00004
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys)	rs200291237	0.00004
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys)	rs587778312	0.00004
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser)	rs370085403	0.00004
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)	rs372254398	0.00004
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys)	rs104894567	0.00004
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)	rs140826989	0.00004
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer)	rs781088002	0.00004
NM_000152.5(GAA):c.784G>A (p.Glu262Lys)	rs201896815	0.00004
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met)	rs371517491	0.00004
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser)	rs754967473	0.00004
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys)	rs781477694	0.00004
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg)	rs386833553	0.00004
NM_000179.3(MSH6):c.107C>T (p.Ala36Val)	rs61756469	0.00004
NM_000179.3(MSH6):c.1364A>C (p.Asn455Thr)	rs200938360	0.00004
NM_000179.3(MSH6):c.1776A>T (p.Val592=)	rs56132616	0.00004
NM_000179.3(MSH6):c.242C>T (p.Ala81Val)	rs587779924	0.00004
NM_000179.3(MSH6):c.2597A>C (p.Lys866Thr)	rs190075874	0.00004
NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser)	rs186240214	0.00004
NM_000179.3(MSH6):c.3729A>G (p.Thr1243=)	rs773807182	0.00004
NM_000179.3(MSH6):c.3801+5G>A	rs201080919	0.00004
NM_000179.3(MSH6):c.3852G>A (p.Thr1284=)	rs2229018	0.00004
NM_000179.3(MSH6):c.4001+10dup	rs730882138	0.00004
NM_000179.3(MSH6):c.749T>C (p.Val250Ala)	rs587781275	0.00004
NM_000179.3(MSH6):c.972A>C (p.Lys324Asn)	rs876658610	0.00004
NM_000182.5(HADHA):c.1793_1794del (p.His598fs)	rs769580842	0.00004
NM_000182.5(HADHA):c.919-2A>G	rs200017313	0.00004
NM_000187.4(HGD):c.899T>G (p.Val300Gly)	rs120074170	0.00004
NM_000191.3(HMGCL):c.698A>G (p.His233Arg)	rs727503963	0.00004
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys)	rs766938111	0.00004
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp)	rs777267343	0.00004
NM_000231.3(SGCG):c.195+1G>C	rs200502077	0.00004
NM_000249.4(MLH1):c.1148T>C (p.Met383Thr)	rs141344760	0.00004
NM_000249.4(MLH1):c.1269G>A (p.Arg423=)	rs373076967	0.00004
NM_000249.4(MLH1):c.1284T>C (p.Asp428=)	rs772555970	0.00004
NM_000249.4(MLH1):c.1628A>G (p.His543Arg)	rs730881742	0.00004
NM_000249.4(MLH1):c.347C>A (p.Thr116Lys)	rs63750465	0.00004
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys)	rs367654552	0.00004
NM_000249.4(MLH1):c.794G>A (p.Arg265His)	rs63751448	0.00004
NM_000249.4(MLH1):c.808A>G (p.Thr270Ala)	rs371302926	0.00004
NM_000251.3(MSH2):c.1021C>G (p.Leu341Val)	rs748115066	0.00004
NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys)	rs63750029	0.00004
NM_000251.3(MSH2):c.1813G>T (p.Val605Phe)	rs730881777	0.00004
NM_000251.3(MSH2):c.1963G>A (p.Val655Ile)	rs549467183	0.00004
NM_000251.3(MSH2):c.607G>A (p.Gly203Arg)	rs587779973	0.00004
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp)	rs992677795	0.00004
NM_000277.3(PAH):c.842+1G>A	rs5030852	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.29T>A (p.Leu10Ter)	rs137852699	0.00004
NM_000352.6(ABCC8):c.2041-21G>A	rs746714109	0.00004
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp)	rs200670692	0.00004
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys)	rs397514524	0.00004
NM_000359.3(TGM1):c.377G>A (p.Arg126His)	rs200491579	0.00004
NM_000359.3(TGM1):c.425G>A (p.Arg142His)	rs121918718	0.00004
NM_000360.4(TH):c.91-818G>A	rs753403788	0.00004
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)	rs121917851	0.00004
NM_000391.4(TPP1):c.225A>G (p.Gln75=)	rs368709098	0.00004
NM_000404.4(GLB1):c.176G>A (p.Arg59His)	rs72555392	0.00004
NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu)	rs398123388	0.00004
NM_000441.2(SLC26A4):c.279del (p.Ser93fs)	rs786204421	0.00004
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu)	rs397516431	0.00004
NM_000455.5(STK11):c.1041G>A (p.Ala347=)	rs537906142	0.00004
NM_000455.5(STK11):c.432G>A (p.Pro144=)	rs376788924	0.00004
NM_000455.5(STK11):c.464+10C>T	rs587782445	0.00004
NM_000455.5(STK11):c.631C>T (p.Arg211Trp)	rs185087320	0.00004
NM_000455.5(STK11):c.723T>C (p.Ala241=)	rs533550278	0.00004
NM_000455.5(STK11):c.795G>A (p.Glu265=)	rs730881963	0.00004
NM_000465.4(BARD1):c.353A>G (p.Asn118Ser)	rs142864491	0.00004
NM_000465.4(BARD1):c.773T>C (p.Ile258Thr)	rs146223579	0.00004
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln)	rs61750425	0.00004
NM_000481.4(AMT):c.280C>T (p.Arg94Trp)	rs1126422	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_000492.4(CFTR):c.2834C>T (p.Ser945Leu)	rs397508442	0.00004
NM_000492.4(CFTR):c.794T>G (p.Met265Arg)	rs148519623	0.00004
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly)	rs397508818	0.00004
NM_000497.4(CYP11B1):c.412C>T (p.Arg138Cys)	rs764251434	0.00004
NM_000518.5(HBB):c.-137C>A	rs33941377	0.00004
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser)	rs575121167	0.00004
NM_000520.6(HEXA):c.986+3A>G	rs200926928	0.00004
NM_000521.4(HEXB):c.1082+5G>A	rs5030731	0.00004
NM_000535.7(PMS2):c.1A>G (p.Met1Val)	rs587779333	0.00004
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)	rs576055272	0.00004
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)	rs587779342	0.00004
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)	rs727504166	0.00004
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu)	rs1057517195	0.00004
NM_000546.6(TP53):c.1149C>T (p.Leu383=)	rs373710656	0.00004
NM_000546.6(TP53):c.255T>C (p.Pro85=)	rs775515332	0.00004
NM_000546.6(TP53):c.28G>A (p.Val10Ile)	rs535274413	0.00004
NM_000546.6(TP53):c.554G>A (p.Ser185Asn)	rs150607408	0.00004
NM_000546.6(TP53):c.787A>G (p.Asn263Asp)	rs72661119	0.00004
NM_000546.6(TP53):c.998G>A (p.Arg333His)	rs573154688	0.00004
NM_000551.4(VHL):c.114C>T (p.Ser38=)	rs417164	0.00004
NM_000551.4(VHL):c.119C>T (p.Pro40Leu)	rs200343185	0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)	rs587778818	0.00004
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr)	rs556745324	0.00004
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)	rs765123255	0.00004
NM_001048174.2(MUTYH):c.752A>C (p.Asn251Thr)	rs587778534	0.00004
NM_001079866.2(BCS1L):c.269G>A (p.Arg90His)	rs747956412	0.00004
NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter)	rs776838028	0.00004
NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu)	rs140814100	0.00004
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)	rs398123787	0.00004
NM_001164277.2(SLC37A4):c.986-11G>A	rs1487063543	0.00004
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp)	rs533233215	0.00004
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter)	rs200731870	0.00004
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs)	rs767414973	0.00004
NM_001283009.2(RTEL1):c.396-26C>T	rs80224512	0.00004
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs)	rs766163167	0.00004
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)	rs146448211	0.00004
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)	rs397514345	0.00004
NM_001370658.1(BTD):c.873del (p.Ser291fs)	rs397514395	0.00004
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter)	rs751804613	0.00004
NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter)	rs145536062	0.00004
NM_001918.5(DBT):c.1018-550A>G	rs796052135	0.00004
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)	rs143348838	0.00004
NM_002225.5(IVD):c.287-1G>A	rs1398838997	0.00004
NM_002691.4(POLD1):c.1383+8C>T	rs374719944	0.00004
NM_002691.4(POLD1):c.2007-14G>A	rs374710307	0.00004
NM_002691.4(POLD1):c.2429C>T (p.Ala810Val)	rs765981178	0.00004
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His)	rs185551386	0.00004
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys)	rs772731615	0.00004
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter)	rs376078668	0.00004
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)	rs767178508	0.00004
NM_004168.4(SDHA):c.513T>C (p.Arg171=)	rs765157205	0.00004
NM_004329.3(BMPR1A):c.1216C>T (p.Arg406Cys)	rs587781332	0.00004
NM_004329.3(BMPR1A):c.1474-9A>G	rs372031054	0.00004
NM_004360.4(CDH1):c.-288del	rs5030658	0.00004
NM_004360.5(CDH1):c.1161C>T (p.Asn387=)	rs111266450	0.00004
NM_004360.5(CDH1):c.2020A>T (p.Asn674Tyr)	rs201637081	0.00004
NM_004360.5(CDH1):c.2165-15C>A	rs552874184	0.00004
NM_004360.5(CDH1):c.2246G>A (p.Arg749Gln)	rs530717933	0.00004
NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu)	rs587781312	0.00004
NM_004360.5(CDH1):c.377C>T (p.Pro126Leu)	rs746703615	0.00004
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)	rs386833909	0.00004
NM_005476.7(GNE):c.598A>T (p.Ile200Phe)	rs369328625	0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala)	rs779694939	0.00004
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter)	rs767739769	0.00004
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter)	rs386833980	0.00004
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)	rs370968992	0.00004
NM_007194.4(CHEK2):c.847-10C>G	rs745745105	0.00004
NM_007294.4(BRCA1):c.-19-3A>G	rs273898669	0.00004
NM_007294.4(BRCA1):c.1419C>T (p.Asn473=)	rs777228325	0.00004
NM_007294.4(BRCA1):c.1616C>T (p.Thr539Met)	rs80357374	0.00004
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser)	rs273898682	0.00004
NM_007294.4(BRCA1):c.2351C>T (p.Ser784Leu)	rs55914168	0.00004
NM_007294.4(BRCA1):c.2473G>T (p.Asp825Tyr)	rs80357328	0.00004
NM_007294.4(BRCA1):c.2669G>T (p.Gly890Val)	rs80356874	0.00004
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr)	rs80357013	0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys)	rs80356991	0.00004
NM_007294.4(BRCA1):c.4402A>C (p.Asn1468His)	rs80357022	0.00004
NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys)	rs41293457	0.00004
NM_007294.4(BRCA1):c.4653T>C (p.Ser1551=)	rs587780863	0.00004
NM_007294.4(BRCA1):c.661G>T (p.Ala221Ser)	rs80357088	0.00004
NM_013339.4(ALG6):c.156G>A (p.Pro52=)	rs751004049	0.00004
NM_013339.4(ALG6):c.1A>G (p.Met1Val)	rs562934427	0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)	rs775059063	0.00004
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)	rs28940869	0.00004
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)	rs267606960	0.00004
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr)	rs121908372	0.00004
NM_020975.6(RET):c.2298G>A (p.Pro766=)	rs140658743	0.00004
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn)	rs377767417	0.00004
NM_020975.6(RET):c.2477A>C (p.Tyr826Ser)	rs34617196	0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)	rs104894691	0.00004
NM_024649.5(BBS1):c.432+13C>T	rs759287238	0.00004
NM_024675.4(PALB2):c.100C>T (p.Arg34Cys)	rs373483056	0.00004
NM_024675.4(PALB2):c.1054G>C (p.Glu352Gln)	rs201035780	0.00004
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val)	rs537258442	0.00004
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser)	rs377085677	0.00004
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu)	rs62625272	0.00004
NM_024675.4(PALB2):c.2067G>A (p.Ser689=)	rs371149159	0.00004
NM_024675.4(PALB2):c.2082A>G (p.Thr694=)	rs781440401	0.00004
NM_024675.4(PALB2):c.2608G>A (p.Val870Ile)	rs376641234	0.00004
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)	rs45476495	0.00004
NM_024675.4(PALB2):c.900A>G (p.Thr300=)	rs771660444	0.00004
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)	rs768933093	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.566+11C>T	rs200527708	0.00004
NM_054012.4(ASS1):c.787G>A (p.Val263Met)	rs192838388	0.00004
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys)	rs765338121	0.00004
NM_054012.4(ASS1):c.892del (p.Glu298fs)	rs770362721	0.00004
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)	rs200293302	0.00004
NM_058216.3(RAD51C):c.635G>A (p.Arg212His)	rs200857129	0.00004
NM_058216.3(RAD51C):c.774del (p.Thr259fs)	rs754367349	0.00004
NM_138694.4(PKHD1):c.11665+1G>A	rs759851475	0.00004
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly)	rs1210846081	0.00004
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=)	rs776060304	0.00004
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter)	rs120074151	0.00004
NM_152618.3(BBS12):c.1A>C (p.Met1Leu)	rs750366365	0.00004
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)	rs121908143	0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)	rs368675850	0.00004
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg)	rs760977747	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
NM_206933.4(USH2A):c.9258G>T (p.Gln3086His)	rs1380261595	0.00004
NR_003051.3(RMRP):n.64C>T	rs786204684	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.443G>A (p.Arg148Lys)	rs778906552	0.00003
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys)	rs754359356	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.1376G>A (p.Arg459Gln)	rs751995154	0.00003
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp)	rs1085307648	0.00003
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)	rs118204014	0.00003
NM_000022.4(ADA):c.715G>A (p.Gly239Ser)	rs777820729	0.00003
NM_000023.4(SGCA):c.293G>A (p.Arg98His)	rs137852621	0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)	rs768814872	0.00003
NM_000027.4(AGA):c.319C>T (p.Arg107Ter)	rs765070743	0.00003
NM_000027.4(AGA):c.677G>A (p.Gly226Asp)	rs386833431	0.00003
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys)	rs180177227	0.00003
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg)	rs180177239	0.00003
NM_000030.3(AGXT):c.847-3C>G	rs180177286	0.00003
NM_000038.6(APC):c.1495C>G (p.Arg499Gly)	rs137854580	0.00003
NM_000038.6(APC):c.1685C>T (p.Thr562Met)	rs587783034	0.00003
NM_000038.6(APC):c.1686G>A (p.Thr562=)	rs770256026	0.00003
NM_000038.6(APC):c.2090C>T (p.Ala697Val)	rs761733547	0.00003
NM_000038.6(APC):c.2297C>T (p.Ala766Val)	rs200339830	0.00003
NM_000038.6(APC):c.2627G>A (p.Arg876Gln)	rs373428732	0.00003
NM_000038.6(APC):c.4334C>T (p.Thr1445Ile)	rs760686348	0.00003
NM_000038.6(APC):c.4416A>T (p.Val1472=)	rs773352404	0.00003
NM_000038.6(APC):c.477C>T (p.Tyr159=)	rs863224281	0.00003
NM_000038.6(APC):c.5635G>T (p.Ala1879Ser)	rs587779799	0.00003
NM_000038.6(APC):c.647G>A (p.Arg216Gln)	rs76685252	0.00003
NM_000038.6(APC):c.6945A>G (p.Gln2315=)	rs786201348	0.00003
NM_000038.6(APC):c.70C>T (p.Arg24Ter)	rs145945630	0.00003
NM_000038.6(APC):c.7174C>A (p.Pro2392Thr)	rs730881257	0.00003
NM_000038.6(APC):c.7415C>T (p.Ala2472Val)	rs200399245	0.00003
NM_000038.6(APC):c.757G>A (p.Gly253Ser)	rs772806807	0.00003
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr)	rs369264968	0.00003
NM_000038.6(APC):c.848G>A (p.Arg283Gln)	rs149154604	0.00003
NM_000045.4(ARG1):c.871C>T (p.Arg291Ter)	rs104893940	0.00003
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln)	rs767271619	0.00003
NM_000048.4(ASL):c.284G>A (p.Arg95His)	rs150244667	0.00003
NM_000048.4(ASL):c.577C>T (p.Arg193Trp)	rs1428029508	0.00003
NM_000049.4(ASPA):c.79G>A (p.Gly27Arg)	rs766328537	0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=)	rs1137887	0.00003
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)	rs56399311	0.00003
NM_000051.4(ATM):c.6452+5T>A	rs533830556	0.00003
NM_000051.4(ATM):c.6888A>T (p.Ala2296=)	rs200735689	0.00003
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)	rs750019452	0.00003
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr)	rs201497300	0.00003
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val)	rs371840514	0.00003
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp)	rs746485916	0.00003
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His)	rs778749563	0.00003
NM_000053.4(ATP7B):c.3556G>C (p.Gly1186Arg)	rs786204547	0.00003
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu)	rs758355520	0.00003
NM_000059.4(BRCA2):c.1631C>T (p.Thr544Ile)	rs80358448	0.00003
NM_000059.4(BRCA2):c.1838T>G (p.Leu613Arg)	rs587780646	0.00003
NM_000059.4(BRCA2):c.2561A>G (p.Asn854Ser)	rs80358520	0.00003
NM_000059.4(BRCA2):c.3032C>G (p.Thr1011Arg)	rs80358548	0.00003
NM_000059.4(BRCA2):c.3254A>G (p.His1085Arg)	rs80358570	0.00003
NM_000059.4(BRCA2):c.3479G>A (p.Arg1160Lys)	rs183920365	0.00003
NM_000059.4(BRCA2):c.3575T>G (p.Phe1192Cys)	rs80358606	0.00003
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp)	rs28897721	0.00003
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp)	rs28897722	0.00003
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala)	rs28897723	0.00003
NM_000059.4(BRCA2):c.53G>A (p.Arg18His)	rs80358762	0.00003
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys)	rs80358784	0.00003
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met)	rs80358866	0.00003
NM_000059.4(BRCA2):c.632-16A>C	rs81002905	0.00003
NM_000059.4(BRCA2):c.6633T>C (p.Val2211=)	rs80359795	0.00003
NM_000059.4(BRCA2):c.6739A>G (p.Ser2247Gly)	rs80358896	0.00003
NM_000059.4(BRCA2):c.7436-14T>G	rs81002814	0.00003
NM_000059.4(BRCA2):c.8036A>G (p.Asp2679Gly)	rs80359041	0.00003
NM_000059.4(BRCA2):c.8134G>A (p.Asp2712Asn)	rs80359056	0.00003
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys)	rs45469092	0.00003
NM_000059.4(BRCA2):c.9190G>A (p.Asp3064Asn)	rs80359177	0.00003
NM_000059.4(BRCA2):c.9235del (p.Val3079fs)	rs397507422	0.00003
NM_000059.4(BRCA2):c.9237T>C (p.Val3079=)	rs80359805	0.00003
NM_000059.4(BRCA2):c.9271G>A (p.Val3091Ile)	rs80359194	0.00003
NM_000059.4(BRCA2):c.9458G>C (p.Gly3153Ala)	rs80359220	0.00003
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu)	rs749863676	0.00003
NM_000070.3(CAPN3):c.1156C>T (p.Arg386Cys)	rs919442493	0.00003
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp)	rs557164942	0.00003
NM_000070.3(CAPN3):c.1993-1G>A	rs369552114	0.00003
NM_000070.3(CAPN3):c.802-9G>A	rs761211705	0.00003
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)	rs771298943	0.00003
NM_000071.3(CBS):c.1058C>T (p.Thr353Met)	rs121964972	0.00003
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)	rs756467921	0.00003
NM_000071.3(CBS):c.374G>A (p.Arg125Gln)	rs781444670	0.00003
NM_000071.3(CBS):c.737-1G>C	rs757428597	0.00003
NM_000071.3(CBS):c.785C>T (p.Thr262Met)	rs149119723	0.00003
NM_000075.4(CDK4):c.549C>T (p.Pro183=)	rs778696237	0.00003
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp)	rs533297350	0.00003
NM_000110.4(DPYD):c.1681C>T (p.Arg561Ter)	rs1057516968	0.00003
NM_000110.4(DPYD):c.187A>G (p.Lys63Glu)	rs367619008	0.00003
NM_000110.4(DPYD):c.208C>T (p.Arg70Ter)	rs141597515	0.00003
NM_000110.4(DPYD):c.2657G>A (p.Arg886His)	rs1801267	0.00003
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter)	rs771781694	0.00003
NM_000128.4(F11):c.1107C>A (p.Tyr369Ter)	rs773905328	0.00003
NM_000128.4(F11):c.1778C>T (p.Thr593Met)	rs145906668	0.00003
NM_000128.4(F11):c.325G>A (p.Ala109Thr)	rs768474112	0.00003
NM_000135.4(FANCA):c.190-2A>T	rs183350210	0.00003
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys)	rs777825824	0.00003
NM_000135.4(FANCA):c.4015del (p.Leu1339fs)	rs762902309	0.00003
NM_000135.4(FANCA):c.457C>G (p.Gln153Glu)	rs774448881	0.00003
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)	rs371897078	0.00003
NM_000137.4(FAH):c.1A>G (p.Met1Val)	rs1057517972	0.00003
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)	rs770610356	0.00003
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)	rs776948121	0.00003
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)	rs121907938	0.00003
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)	rs780321415	0.00003
NM_000152.5(GAA):c.2799+4A>G	rs778032599	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.388G>A (p.Glu130Lys)	rs374635469	0.00003
NM_000153.4(GALC):c.850G>A (p.Gly284Ser)	rs377274761	0.00003
NM_000153.4(GALC):c.857G>A (p.Gly286Asp)	rs199847983	0.00003
NM_000154.2(GALK1):c.94G>A (p.Val32Met)	rs104894576	0.00003
NM_000155.4(GALT):c.1006A>T (p.Met336Leu)	rs111033810	0.00003
NM_000155.4(GALT):c.200G>A (p.Arg67His)	rs758430398	0.00003
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)	rs567564095	0.00003
NM_000159.4(GCDH):c.1148G>A (p.Arg383His)	rs764608975	0.00003
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu)	rs1057516344	0.00003
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp)	rs766518430	0.00003
NM_000170.3(GLDC):c.2665+1G>C	rs149070244	0.00003
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu)	rs1207147043	0.00003
NM_000179.3(MSH6):c.-8C>T	rs565211544	0.00003
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg)	rs63749973	0.00003
NM_000179.3(MSH6):c.2319C>T (p.Leu773=)	rs63749895	0.00003
NM_000179.3(MSH6):c.240A>G (p.Val80=)	rs864622281	0.00003
NM_000179.3(MSH6):c.2904C>G (p.Val968=)	rs150683226	0.00003
NM_000179.3(MSH6):c.3071G>A (p.Arg1024Gln)	rs372705506	0.00003
NM_000179.3(MSH6):c.3284G>A (p.Arg1095His)	rs63750253	0.00003
NM_000179.3(MSH6):c.3426G>A (p.Thr1142=)	rs747771350	0.00003
NM_000179.3(MSH6):c.364G>A (p.Glu122Lys)	rs143036974	0.00003
NM_000179.3(MSH6):c.3787C>T (p.Arg1263Cys)	rs367912290	0.00003
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met)	rs63750836	0.00003
NM_000179.3(MSH6):c.393A>C (p.Val131=)	rs752488540	0.00003
NM_000179.3(MSH6):c.4002-14T>C	rs587781041	0.00003
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser)	rs752317877	0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)	rs104894639	0.00003
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter)	rs374621913	0.00003
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser)	rs143947056	0.00003
NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs)	rs769967565	0.00003
NM_000249.4(MLH1):c.116+5G>A	rs267607710	0.00003
NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn)	rs771044689	0.00003
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln)	rs63751630	0.00003
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu)	rs56185292	0.00003
NM_000249.4(MLH1):c.1743G>A (p.Pro581=)	rs567838745	0.00003
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly)	rs63750809	0.00003
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg)	rs140195825	0.00003
NM_000249.4(MLH1):c.376T>A (p.Tyr126Asn)	rs200076893	0.00003
NM_000249.4(MLH1):c.539T>G (p.Val180Gly)	rs63750102	0.00003
NM_000249.4(MLH1):c.579A>G (p.Ser193=)	rs587781038	0.00003
NM_000249.4(MLH1):c.791-14T>C	rs751254837	0.00003
NM_000251.3(MSH2):c.1144C>T (p.Arg382Cys)	rs752373431	0.00003
NM_000251.3(MSH2):c.1204C>A (p.Gln402Lys)	rs63751412	0.00003
NM_000251.3(MSH2):c.1465G>A (p.Glu489Lys)	rs876658187	0.00003
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln)	rs56170584	0.00003
NM_000251.3(MSH2):c.1601G>A (p.Arg534His)	rs587778523	0.00003
NM_000251.3(MSH2):c.1760-16T>G	rs768370188	0.00003
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg)	rs587779965	0.00003
NM_000251.3(MSH2):c.211+8C>T	rs267607916	0.00003
NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr)	rs373226409	0.00003
NM_000251.3(MSH2):c.2205C>T (p.Ile735=)	rs533553381	0.00003
NM_000251.3(MSH2):c.2211-5T>G	rs368596736	0.00003
NM_000251.3(MSH2):c.2458+8C>G	rs189025757	0.00003
NM_000251.3(MSH2):c.2558A>C (p.Glu853Ala)	rs63750797	0.00003
NM_000251.3(MSH2):c.260C>G (p.Ser87Cys)	rs587781447	0.00003
NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys)	rs587779969	0.00003
NM_000251.3(MSH2):c.336C>A (p.Ser112=)	rs34312619	0.00003
NM_000251.3(MSH2):c.399C>T (p.Asp133=)	rs61756462	0.00003
NM_000251.3(MSH2):c.80C>T (p.Pro27Leu)	rs750746034	0.00003
NM_000251.3(MSH2):c.835C>G (p.Leu279Val)	rs375351205	0.00003
NM_000251.3(MSH2):c.968C>G (p.Ser323Cys)	rs63750732	0.00003
NM_000251.3(MSH2):c.991A>G (p.Asn331Asp)	rs267607938	0.00003
NM_000255.4(MMUT):c.1084-10A>G	rs777031588	0.00003
NM_000255.4(MMUT):c.1614C>T (p.Thr538=)	rs766999822	0.00003
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)	rs121918254	0.00003
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu)	rs143023066	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.2474A>G (p.Tyr825Cys)	rs550562774	0.00003
NM_000271.5(NPC1):c.423_424dup (p.Lys142fs)	rs773941375	0.00003
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter)	rs62516095	0.00003
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe)	rs376480977	0.00003
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)	rs62516141	0.00003
NM_000277.3(PAH):c.1256A>G (p.Gln419Arg)	rs752255985	0.00003
NM_000277.3(PAH):c.157C>T (p.Arg53Cys)	rs199475619	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.844G>A (p.Asp282Asn)	rs199475582	0.00003
NM_000277.3(PAH):c.916A>G (p.Ile306Val)	rs62642934	0.00003
NM_000277.3(PAH):c.965C>G (p.Ala322Gly)	rs62514958	0.00003
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly)	rs1169861687	0.00003
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)	rs774738181	0.00003
NM_000286.3(PEX12):c.604C>T (p.Arg202Ter)	rs61752105	0.00003
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu)	rs61753219	0.00003
NM_000303.3(PMM2):c.200T>G (p.Val67Gly)	rs751986971	0.00003
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys)	rs746610168	0.00003
NM_000314.8(PTEN):c.-765G>A	rs587776674	0.00003
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)	rs375709098	0.00003
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys)	rs762894736	0.00003
NM_000317.3(PTS):c.370G>T (p.Val124Leu)	rs150726932	0.00003
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter)	rs570388861	0.00003
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly)	rs121918724	0.00003
NM_000359.3(TGM1):c.1631A>G (p.Tyr544Cys)	rs1044429462	0.00003
NM_000359.3(TGM1):c.871G>A (p.Gly291Ser)	rs1437822062	0.00003
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln)	rs121918717	0.00003
NM_000360.4(TH):c.1400A>G (p.Asp467Gly)	rs771351747	0.00003
NM_000360.4(TH):c.90+13G>A	rs77140743	0.00003
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)	rs35916840	0.00003
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met)	rs72547562	0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)	rs5030869	0.00003
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln)	rs572237881	0.00003
NM_000404.4(GLB1):c.335A>C (p.His112Pro)	rs753965226	0.00003
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His)	rs748057401	0.00003
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter)	rs747349942	0.00003
NM_000426.4(LAMA2):c.939_940del (p.Cys314fs)	rs1209130981	0.00003
NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser)	rs747636919	0.00003
NM_000441.2(SLC26A4):c.2089+1G>A	rs727503430	0.00003
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly)	rs757820624	0.00003
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)	rs542620119	0.00003
NM_000455.5(STK11):c.1035C>T (p.His345=)	rs751619208	0.00003
NM_000455.5(STK11):c.1039G>A (p.Ala347Thr)	rs369744528	0.00003
NM_000455.5(STK11):c.1088C>T (p.Thr363Ile)	rs587778695	0.00003
NM_000455.5(STK11):c.1100C>T (p.Thr367Met)	rs587782835	0.00003
NM_000455.5(STK11):c.1109-5C>T	rs587782020	0.00003
NM_000455.5(STK11):c.1130C>T (p.Ala377Val)	rs199973552	0.00003
NM_000455.5(STK11):c.1226G>A (p.Arg409Gln)	rs587782364	0.00003
NM_000455.5(STK11):c.1258G>T (p.Ala420Ser)	rs762482152	0.00003
NM_000455.5(STK11):c.439C>T (p.Arg147Cys)	rs748464757	0.00003
NM_000455.5(STK11):c.566C>T (p.Thr189Ile)	rs587781515	0.00003
NM_000455.5(STK11):c.613G>A (p.Ala205Thr)	rs730881981	0.00003
NM_000455.5(STK11):c.615G>A (p.Ala205=)	rs532889728	0.00003
NM_000455.5(STK11):c.621C>T (p.Asp207=)	rs569380138	0.00003
NM_000455.5(STK11):c.828C>T (p.Gly276=)	rs200824447	0.00003
NM_000455.5(STK11):c.876C>T (p.Tyr292=)	rs148928808	0.00003
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile)	rs201032007	0.00003
NM_000465.4(BARD1):c.1613G>A (p.Ser538Asn)	rs370771157	0.00003
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn)	rs369561166	0.00003
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)	rs74315456	0.00003
NM_000487.6(ARSA):c.542dup (p.Leu183fs)	rs776748338	0.00003
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys)	rs74315470	0.00003
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)	rs73215912	0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)	rs193922501	0.00003
NM_000492.4(CFTR):c.1585-19T>C	rs778457306	0.00003
NM_000492.4(CFTR):c.1658G>A (p.Arg553Gln)	rs121909044	0.00003
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)	rs368505753	0.00003
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter)	rs149790377	0.00003
NM_000492.4(CFTR):c.2758G>A (p.Val920Met)	rs373885282	0.00003
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys)	rs397508463	0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)	rs202179988	0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)	rs139729994	0.00003
NM_000492.4(CFTR):c.3964-28G>A	rs397508651	0.00003
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val)	rs397508670	0.00003
NM_000492.4(CFTR):c.53+4A>T	rs372610364	0.00003
NM_000518.5(HBB):c.-140C>T	rs34999973	0.00003
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)	rs764552042	0.00003
NM_000528.4(MAN2B1):c.1A>G (p.Met1Val)	rs967834240	0.00003
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln)	rs778742647	0.00003
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg)	rs746102997	0.00003
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg)	rs36001797	0.00003
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His)	rs771336819	0.00003
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn)	rs749780769	0.00003
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser)	rs587779408	0.00003
NM_000543.5(SMPD1):c.940G>A (p.Val314Met)	rs1228068212	0.00003
NM_000546.6(TP53):c.180A>C (p.Pro60=)	rs749289195	0.00003
NM_000546.6(TP53):c.214C>G (p.Pro72Ala)	rs587782769	0.00003
NM_000546.6(TP53):c.329G>A (p.Arg110His)	rs11540654	0.00003
NM_000546.6(TP53):c.509C>T (p.Thr170Met)	rs779000871	0.00003
NM_000551.4(VHL):c.375C>T (p.His125=)	rs863224372	0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)	rs387906244	0.00003
NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter)	rs376456598	0.00003
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His)	rs200137189	0.00003
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter)	rs533885672	0.00003
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln)	rs376230356	0.00003
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)	rs587782228	0.00003
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)	rs747993448	0.00003
NM_001127511.3(APC):c.130G>A (p.Ala44Thr)	rs367773779	0.00003
NM_001127511.3(APC):c.71C>T (p.Ser24Phe)	rs770241997	0.00003
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)	rs28931569	0.00003
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp)	rs760443264	0.00003
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)	rs121908955	0.00003
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu)	rs141497053	0.00003
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs)	rs763028732	0.00003
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs)	rs1326370032	0.00003
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter)	rs749452641	0.00003
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter)	rs754272530	0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp)	rs398123018	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_001360.3(DHCR7):c.111G>A (p.Trp37Ter)	rs750345068	0.00003
NM_001360.3(DHCR7):c.1336C>T (p.Arg446Trp)	rs145043679	0.00003
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile)	rs121909767	0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)	rs143312232	0.00003
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter)	rs606231229	0.00003
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=)	rs587780841	0.00003
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser)	rs374141881	0.00003
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu)	rs397514427	0.00003
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)	rs397514367	0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met)	rs397514375	0.00003
NM_001370658.1(BTD):c.572G>A (p.Arg191His)	rs112195009	0.00003
NM_001378454.1(ALMS1):c.10461C>T (p.Pro3487=)	rs202036843	0.00003
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=)	rs750362630	0.00003
NM_001378454.1(ALMS1):c.7541-6C>T	rs1408073039	0.00003
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter)	rs886044666	0.00003
NM_001875.5(CPS1):c.1145C>T (p.Pro382Leu)	rs201407486	0.00003
NM_001875.5(CPS1):c.3265C>T (p.Arg1089Cys)	rs1392559810	0.00003
NM_002225.5(IVD):c.851G>A (p.Arg284Gln)	rs373534546	0.00003
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro)	rs199657566	0.00003
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln)	rs724160001	0.00003
NM_002691.4(POLD1):c.3121-9C>T	rs149742605	0.00003
NM_002878.4(RAD51D):c.198G>T (p.Val66=)	rs200810304	0.00003
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter)	rs387906843	0.00003
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)	rs370228071	0.00003
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)	rs267607032	0.00003
NM_003060.4(SLC22A5):c.1053-2A>C	rs777004046	0.00003
NM_003060.4(SLC22A5):c.1202dup (p.Tyr401Ter)	rs121908887	0.00003
NM_003060.4(SLC22A5):c.1587-11T>G	rs772775759	0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)	rs151231558	0.00003
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln)	rs121908889	0.00003
NM_003640.5(ELP1):c.4C>T (p.Arg2Ter)	rs926177767	0.00003
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu)	rs72561723	0.00003
NM_004004.6(GJB2):c.298C>T (p.His100Tyr)	rs143343083	0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)	rs111033217	0.00003
NM_004004.6(GJB2):c.476A>T (p.Asp159Val)	rs28931592	0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)	rs773528125	0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)	rs80338950	0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)	rs397516878	0.00003
NM_004006.3(DMD):c.1812+1G>A	rs373286166	0.00003
NM_004329.3(BMPR1A):c.198C>T (p.His66=)	rs150493865	0.00003
NM_004329.3(BMPR1A):c.510C>T (p.Phe170=)	rs747266339	0.00003
NM_004329.3(BMPR1A):c.68-12A>G	rs201120747	0.00003
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys)	rs587782578	0.00003
NM_004360.5(CDH1):c.1173C>T (p.Val391=)	rs148080550	0.00003
NM_004360.5(CDH1):c.1360G>A (p.Val454Ile)	rs587780112	0.00003
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile)	rs36087757	0.00003
NM_004360.5(CDH1):c.2204C>T (p.Ala735Val)	rs587782464	0.00003
NM_004360.5(CDH1):c.499G>A (p.Glu167Lys)	rs769076258	0.00003
NM_004360.5(CDH1):c.671G>A (p.Arg224His)	rs201511530	0.00003
NM_004360.5(CDH1):c.832+17G>C	rs373179391	0.00003
NM_004628.5(XPC):c.2074A>T (p.Lys692Ter)	rs374117852	0.00003
NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter)	rs386833887	0.00003
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)	rs372316981	0.00003
NM_005476.7(GNE):c.1485G>A (p.Trp495Ter)	rs1212623980	0.00003
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter)	rs757523840	0.00003
NM_005476.7(GNE):c.673G>A (p.Asp225Asn)	rs121908630	0.00003
NM_005476.7(GNE):c.80C>T (p.Pro27Leu)	rs1236647498	0.00003
NM_005476.7(GNE):c.916C>T (p.Arg306Ter)	rs1057516374	0.00003
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser)	rs752622662	0.00003
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)	rs780656375	0.00003
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln)	rs150911354	0.00003
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)	rs1057517001	0.00003
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys)	rs200038732	0.00003
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter)	rs121912628	0.00003
NM_006231.4(POLE):c.3890C>T (p.Ser1297Leu)	rs746585658	0.00003
NM_006493.4(CLN5):c.522dup (p.Trp175fs)	rs386833979	0.00003
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs)	rs730881700	0.00003
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys)	rs149501505	0.00003
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)	rs587782471	0.00003
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg)	rs141776984	0.00003
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)	rs587781379	0.00003
NM_007294.4(BRCA1):c.1001C>T (p.Pro334Leu)	rs41286290	0.00003
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)	rs28897672	0.00003
NM_007294.4(BRCA1):c.212+21G>A	rs80358147	0.00003
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg)	rs80357108	0.00003
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile)	rs80357127	0.00003
NM_007294.4(BRCA1):c.3362A>G (p.Asn1121Ser)	rs80356919	0.00003
NM_007294.4(BRCA1):c.4185+10G>C	rs80358104	0.00003
NM_007294.4(BRCA1):c.4357+17A>G	rs80358180	0.00003
NM_007294.4(BRCA1):c.457A>C (p.Ser153Arg)	rs28897674	0.00003
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=)	rs191373374	0.00003
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln)	rs80357442	0.00003
NM_007294.4(BRCA1):c.5310G>A (p.Gly1770=)	rs273901761	0.00003
NM_007294.4(BRCA1):c.671-8A>G	rs80358144	0.00003
NM_007294.4(BRCA1):c.81-6T>C	rs80358179	0.00003
NM_007294.4(BRCA1):c.811G>A (p.Val271Met)	rs80357244	0.00003
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter)	rs755933716	0.00003
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)	rs202199411	0.00003
NM_014625.4(NPHS2):c.643C>T (p.Gln215Ter)	rs778055996	0.00003
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser)	rs748812981	0.00003
NM_015166.4(MLC1):c.449_455del (p.Leu150fs)	rs1057517090	0.00003
NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter)	rs118204049	0.00003
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)	rs761221416	0.00003
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)	rs386834019	0.00003
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)	rs193919336	0.00003
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)	rs137853105	0.00003
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp)	rs886285802	0.00003
NM_017882.3(CLN6):c.755G>A (p.Arg252His)	rs374681194	0.00003
NM_018941.4(CLN8):c.470A>G (p.His157Arg)	rs149308952	0.00003
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter)	rs267606739	0.00003
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter)	rs121908373	0.00003
NM_020533.3(MCOLN1):c.920del (p.Leu307fs)	rs755042147	0.00003
NM_020975.6(RET):c.1878G>A (p.Gln626=)	rs147692872	0.00003
NM_020975.6(RET):c.2392+19T>C	rs778745375	0.00003
NM_020975.6(RET):c.539G>A (p.Arg180Gln)	rs370736139	0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)	rs376894444	0.00003
NM_024649.5(BBS1):c.724-1G>C	rs748523268	0.00003
NM_024675.4(PALB2):c.110G>A (p.Arg37His)	rs202194596	0.00003
NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser)	rs367578415	0.00003
NM_024675.4(PALB2):c.1272C>T (p.Ala424=)	rs754720030	0.00003
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn)	rs587781954	0.00003
NM_024675.4(PALB2):c.1839G>A (p.Gln613=)	rs199682414	0.00003
NM_024675.4(PALB2):c.2106A>G (p.Ile702Met)	rs730881886	0.00003
NM_024675.4(PALB2):c.2208C>A (p.Ala736=)	rs369113809	0.00003
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr)	rs587780214	0.00003
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr)	rs138273800	0.00003
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)	rs142132127	0.00003
NM_024675.4(PALB2):c.94C>G (p.Leu32Val)	rs151316635	0.00003
NM_024675.4(PALB2):c.950C>T (p.Thr317Ile)	rs45548638	0.00003
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)	rs147030232	0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)	rs121908179	0.00003
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)	rs121908175	0.00003
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp)	rs121908178	0.00003
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter)	rs756859126	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_058216.3(RAD51C):c.1102C>T (p.Arg368Trp)	rs587780253	0.00003
NM_138413.4(HOGA1):c.943_954dup (p.Glu315_Arg318dup)	rs777828182	0.00003
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs)	rs765209037	0.00003
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr)	rs137852948	0.00003
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu)	rs758352210	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.7916C>A (p.Ser2639Ter)	rs181208607	0.00003
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)	rs137852924	0.00003
NM_147127.5(EVC2):c.3659+2T>C	rs200300612	0.00003
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His)	rs766835582	0.00003
NM_152564.5(VPS13B):c.2935-4C>T	rs207469601	0.00003
NM_152564.5(VPS13B):c.5077-13G>A	rs376055963	0.00003
NM_152618.3(BBS12):c.1574G>A (p.Arg525His)	rs776730549	0.00003
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu)	rs1450190654	0.00003
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)	rs397517963	0.00003
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)	rs750396156	0.00003
NM_206933.4(USH2A):c.6043C>T (p.Leu2015Phe)	rs370597096	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_000016.6(ACADM):c.134A>G (p.Gln45Arg)	rs757434857	0.00002
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys)	rs398123072	0.00002
NM_000016.6(ACADM):c.617G>A (p.Arg206His)	rs200724875	0.00002
NM_000016.6(ACADM):c.757G>A (p.Glu253Lys)	rs768884003	0.00002
NM_000016.6(ACADM):c.946-6T>G	rs765793260	0.00002
NM_000016.6(ACADM):c.984del (p.Met328fs)	rs747610156	0.00002
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu)	rs147442301	0.00002
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=)	rs779458466	0.00002
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)	rs2309689	0.00002
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter)	rs786204536	0.00002
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs)	rs766192888	0.00002
NM_000022.4(ADA):c.454C>A (p.Leu152Met)	rs121908728	0.00002
NM_000022.4(ADA):c.529G>A (p.Val177Met)	rs121908719	0.00002
NM_000022.4(ADA):c.704G>A (p.Arg235Gln)	rs79281338	0.00002
NM_000027.4(AGA):c.503G>A (p.Trp168Ter)	rs386833430	0.00002
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys)	rs180177157	0.00002
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu)	rs121908522	0.00002
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg)	rs180177207	0.00002
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe)	rs180177238	0.00002
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu)	rs180177253	0.00002
NM_000030.3(AGXT):c.942+14T>G	rs886055843	0.00002
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His)	rs369586696	0.00002
NM_000038.6(APC):c.1984C>A (p.Leu662Ile)	rs756859993	0.00002
NM_000038.6(APC):c.2444A>C (p.Asn815Thr)	rs762990578	0.00002
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg)	rs149353082	0.00002
NM_000038.6(APC):c.4311A>G (p.Lys1437=)	rs371784771	0.00002
NM_000038.6(APC):c.5147A>G (p.Asn1716Ser)	rs141298709	0.00002
NM_000038.6(APC):c.5271T>C (p.Ser1757=)	rs752875511	0.00002
NM_000038.6(APC):c.5752A>G (p.Ile1918Val)	rs776966222	0.00002
NM_000038.6(APC):c.7821C>T (p.Ser2607=)	rs532235331	0.00002
NM_000038.6(APC):c.835-3T>C	rs372090940	0.00002
NM_000038.6(APC):c.8429A>G (p.Asn2810Ser)	rs758044862	0.00002
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln)	rs377280518	0.00002
NM_000048.4(ASL):c.1154G>A (p.Arg385His)	rs746120802	0.00002
NM_000048.4(ASL):c.338G>A (p.Arg113Gln)	rs752783461	0.00002
NM_000048.4(ASL):c.377G>A (p.Arg126Gln)	rs777235530	0.00002
NM_000048.4(ASL):c.507G>C (p.Trp169Cys)	rs759952363	0.00002
NM_000048.4(ASL):c.638G>A (p.Arg213Gln)	rs1449589636	0.00002
NM_000048.4(ASL):c.918+5G>A	rs781331391	0.00002
NM_000049.4(ASPA):c.820G>A (p.Gly274Arg)	rs761064915	0.00002
NM_000049.4(ASPA):c.838C>T (p.Pro280Ser)	rs750505963	0.00002
NM_000051.4(ATM):c.4437-7A>G	rs370354306	0.00002
NM_000051.4(ATM):c.6396A>G (p.Leu2132=)	rs370537345	0.00002
NM_000051.4(ATM):c.8268+6T>A	rs747153940	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_000053.4(ATP7B):c.2575+5G>C	rs551030054	0.00002
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met)	rs786204718	0.00002
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp)	rs779323689	0.00002
NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala)	rs777791532	0.00002
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys)	rs756029120	0.00002
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro)	rs568009639	0.00002
NM_000055.4(BCHE):c.1584T>A (p.Tyr528Ter)	rs760485585	0.00002
NM_000057.4(BLM):c.3028del (p.Asp1010fs)	rs780379121	0.00002
NM_000059.4(BRCA2):c.10240A>G (p.Thr3414Ala)	rs80358405	0.00002
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg)	rs28897709	0.00002
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser)	rs80358439	0.00002
NM_000059.4(BRCA2):c.172G>A (p.Glu58Lys)	rs397507603	0.00002
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser)	rs80358463	0.00002
NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg)	rs80358466	0.00002
NM_000059.4(BRCA2):c.1814T>C (p.Ile605Thr)	rs80358468	0.00002
NM_000059.4(BRCA2):c.1820A>C (p.Lys607Thr)	rs55962656	0.00002
NM_000059.4(BRCA2):c.2459A>G (p.Asp820Gly)	rs80358511	0.00002
NM_000059.4(BRCA2):c.257T>C (p.Leu86Pro)	rs572782576	0.00002
NM_000059.4(BRCA2):c.3299A>T (p.Asn1100Ile)	rs80358575	0.00002
NM_000059.4(BRCA2):c.3304A>T (p.Asn1102Tyr)	rs28897719	0.00002
NM_000059.4(BRCA2):c.5427C>T (p.Cys1809=)	rs80359791	0.00002
NM_000059.4(BRCA2):c.5428G>A (p.Val1810Ile)	rs80358766	0.00002
NM_000059.4(BRCA2):c.5474C>T (p.Ala1825Val)	rs397507352	0.00002
NM_000059.4(BRCA2):c.5737T>C (p.Cys1913Arg)	rs80358799	0.00002
NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr)	rs80358822	0.00002
NM_000059.4(BRCA2):c.5921C>T (p.Thr1974Ile)	rs55730620	0.00002
NM_000059.4(BRCA2):c.6331A>G (p.Lys2111Glu)	rs773211804	0.00002
NM_000059.4(BRCA2):c.6550C>G (p.Gln2184Glu)	rs80358887	0.00002
NM_000059.4(BRCA2):c.7096C>G (p.Leu2366Val)	rs80358941	0.00002
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe)	rs80358980	0.00002
NM_000059.4(BRCA2):c.7559G>A (p.Arg2520Gln)	rs80358982	0.00002
NM_000059.4(BRCA2):c.7684T>C (p.Phe2562Leu)	rs80358995	0.00002
NM_000059.4(BRCA2):c.794-11T>C	rs81002822	0.00002
NM_000059.4(BRCA2):c.8027T>C (p.Met2676Thr)	rs80359038	0.00002
NM_000059.4(BRCA2):c.8111C>T (p.Ser2704Phe)	rs80359054	0.00002
NM_000059.4(BRCA2):c.8360G>A (p.Arg2787His)	rs80359078	0.00002
NM_000059.4(BRCA2):c.8573A>G (p.Gln2858Arg)	rs80359114	0.00002
NM_000059.4(BRCA2):c.9234C>T (p.Val3078=)	rs587782428	0.00002
NM_000059.4(BRCA2):c.9501+4A>G	rs81002848	0.00002
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu)	rs80359241	0.00002
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys)	rs371784007	0.00002
NM_000070.3(CAPN3):c.1302C>T (p.Asn434=)	rs751429914	0.00002
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)	rs121434544	0.00002
NM_000070.3(CAPN3):c.1801-1G>A	rs886043752	0.00002
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)	rs587780290	0.00002
NM_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_000071.3(CBS):c.959T>C (p.Val320Ala)	rs781567152	0.00002
NM_000077.5(CDKN2A):c.150+20C>T	rs550846229	0.00002
NM_000082.4(ERCC8):c.600dup (p.Ile201fs)	rs1468231556	0.00002
NM_000091.5(COL4A3):c.2535del (p.Leu846fs)	rs993103826	0.00002
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter)	rs1346138010	0.00002
NM_000108.5(DLD):c.1440A>G (p.Ile480Met)	rs772512477	0.00002
NM_000128.4(F11):c.682C>T (p.Arg228Ter)	rs752907087	0.00002
NM_000128.4(F11):c.977G>A (p.Arg326His)	rs1554082932	0.00002
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys)	rs750257902	0.00002
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys)	rs148473140	0.00002
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met)	rs142833057	0.00002
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu)	rs182657062	0.00002
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile)	rs587778323	0.00002
NM_000136.3(FANCC):c.1302dup (p.Gly435fs)	rs730881709	0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)	rs104886458	0.00002
NM_000136.3(FANCC):c.457-7T>C	rs749994612	0.00002
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter)	rs781542763	0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter)	rs377294947	0.00002
NM_000136.3(FANCC):c.843+1G>A	rs587779909	0.00002
NM_000137.4(FAH):c.398A>T (p.His133Leu)	rs775152764	0.00002
NM_000137.4(FAH):c.696C>T (p.Asn232=)	rs533540262	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.1222A>G (p.Met408Val)	rs560575383	0.00002
NM_000152.5(GAA):c.1316T>A (p.Met439Lys)	rs747610090	0.00002
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)	rs772883420	0.00002
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)	rs765362308	0.00002
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys)	rs991082382	0.00002
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)	rs753269119	0.00002
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)	rs757111744	0.00002
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)	rs778418246	0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)	rs750030887	0.00002
NM_000153.4(GALC):c.628A>T (p.Arg210Ter)	rs202131052	0.00002
NM_000154.2(GALK1):c.863C>T (p.Thr288Met)	rs759284637	0.00002
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro)	rs137852886	0.00002
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val)	rs933624223	0.00002
NM_000159.4(GCDH):c.536T>G (p.Leu179Arg)	rs774526353	0.00002
NM_000159.4(GCDH):c.641C>T (p.Thr214Met)	rs1131692030	0.00002
NM_000159.4(GCDH):c.892G>A (p.Ala298Thr)	rs761765983	0.00002
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp)	rs779315456	0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His)	rs372966991	0.00002
NM_000170.3(GLDC):c.1652G>T (p.Ser551Ile)	rs751822565	0.00002
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)	rs786201042	0.00002
NM_000179.3(MSH6):c.2241G>A (p.Leu747=)	rs377722465	0.00002
NM_000179.3(MSH6):c.2419G>A (p.Glu807Lys)	rs587779923	0.00002
NM_000179.3(MSH6):c.2508C>T (p.Asn836=)	rs758170249	0.00002
NM_000179.3(MSH6):c.2511C>G (p.His837Gln)	rs587779925	0.00002
NM_000179.3(MSH6):c.2624T>C (p.Met875Thr)	rs774774596	0.00002
NM_000179.3(MSH6):c.3205G>C (p.Gly1069Arg)	rs764113705	0.00002
NM_000179.3(MSH6):c.321T>C (p.Pro107=)	rs730881823	0.00002
NM_000179.3(MSH6):c.4062G>T (p.Leu1354=)	rs863224335	0.00002
NM_000182.5(HADHA):c.2114T>A (p.Val705Asp)	rs1240187200	0.00002
NM_000187.4(HGD):c.1120G>C (p.Asp374His)	rs981454067	0.00002
NM_000187.4(HGD):c.1336T>C (p.Ter446Arg)	rs143370662	0.00002
NM_000187.4(HGD):c.342+1G>T	rs397515518	0.00002
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu)	rs121964996	0.00002
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe)	rs780239925	0.00002
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys)	rs764057581	0.00002
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg)	rs761607612	0.00002
NM_000231.3(SGCG):c.386-1G>A	rs913248720	0.00002
NM_000232.5(SGCB):c.551A>G (p.Tyr184Cys)	rs1365923535	0.00002
NM_000249.4(MLH1):c.1564C>T (p.Arg522Trp)	rs63751703	0.00002
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu)	rs374135434	0.00002
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys)	rs63750328	0.00002
NM_000251.3(MSH2):c.1854A>G (p.Pro618=)	rs786203744	0.00002
NM_000251.3(MSH2):c.2061C>G (p.Leu687=)	rs63750032	0.00002
NM_000251.3(MSH2):c.220A>C (p.Asn74His)	rs150548839	0.00002
NM_000251.3(MSH2):c.2717T>C (p.Ile906Thr)	rs587780687	0.00002
NM_000251.3(MSH2):c.2786G>A (p.Arg929Gln)	rs587779967	0.00002
NM_000251.3(MSH2):c.42G>A (p.Ala14=)	rs374396150	0.00002
NM_000251.3(MSH2):c.438T>C (p.Gly146=)	rs587779161	0.00002
NM_000251.3(MSH2):c.762T>C (p.Asn254=)	rs587779180	0.00002
NM_000251.3(MSH2):c.792+5A>G	rs267607935	0.00002
NM_000255.4(MMUT):c.1880A>G (p.His627Arg)	rs372486357	0.00002
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter)	rs121918248	0.00002
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro)	rs965316043	0.00002
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter)	rs376764423	0.00002
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser)	rs747656448	0.00002
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu)	rs751203469	0.00002
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys)	rs763299645	0.00002
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)	rs753520553	0.00002
NM_000271.5(NPC1):c.1301C>T (p.Pro434Leu)	rs774333145	0.00002
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys)	rs781065429	0.00002
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys)	rs202140203	0.00002
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu)	rs753419933	0.00002
NM_000277.3(PAH):c.1065+39G>T	rs62510582	0.00002
NM_000277.3(PAH):c.1066-3C>T	rs62507344	0.00002
NM_000277.3(PAH):c.1218A>G (p.Ile406Met)	rs773526027	0.00002
NM_000277.3(PAH):c.581T>C (p.Leu194Pro)	rs5030844	0.00002
NM_000277.3(PAH):c.638T>C (p.Leu213Pro)	rs62516109	0.00002
NM_000277.3(PAH):c.806del (p.Ile269fs)	rs62508687	0.00002
NM_000277.3(PAH):c.842+5G>A	rs62516146	0.00002
NM_000277.3(PAH):c.913-7A>G	rs62517165	0.00002
NM_000282.4(PCCA):c.2T>C (p.Met1Thr)	rs372093520	0.00002
NM_000282.4(PCCA):c.775_779del (p.Leu259fs)	rs794726976	0.00002
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter)	rs1555448899	0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)	rs104894526	0.00002
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser)	rs532870929	0.00002
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr)	rs386833640	0.00002
NM_000314.8(PTEN):c.261A>G (p.Gln87=)	rs149772796	0.00002
NM_000317.3(PTS):c.400G>A (p.Glu134Lys)	rs779681799	0.00002
NM_000317.3(PTS):c.84-3C>G	rs1230781262	0.00002
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys)	rs372307320	0.00002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)	rs72559722	0.00002
NM_000352.6(ABCC8):c.4308-2A>G	rs886041391	0.00002
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg)	rs121918725	0.00002
NM_000359.3(TGM1):c.967C>T (p.Arg323Trp)	rs771820315	0.00002
NM_000360.4(TH):c.292C>T (p.Arg98Ter)	rs1057519220	0.00002
NM_000360.4(TH):c.364C>T (p.Arg122Ter)	rs771610752	0.00002
NM_000360.4(TH):c.787G>C (p.Gly263Arg)	rs755536257	0.00002
NM_000380.4(XPA):c.555G>C (p.Gln185His)	rs746617574	0.00002
NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu)	rs72547573	0.00002
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn)	rs72547568	0.00002
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu)	rs179363889	0.00002
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp)	rs140630532	0.00002
NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn)	rs780724173	0.00002
NM_000404.4(GLB1):c.146G>A (p.Arg49His)	rs780523881	0.00002
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala)	rs72555368	0.00002
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys)	rs756878418	0.00002
NM_000404.4(GLB1):c.841C>T (p.His281Tyr)	rs745386663	0.00002
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp)	rs773305477	0.00002
NM_000426.4(LAMA2):c.283+1G>A	rs200288072	0.00002
NM_000426.4(LAMA2):c.5562+5G>C	rs771046502	0.00002
NM_000426.4(LAMA2):c.7658del (p.Ser2553fs)	rs1293303410	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.200C>G (p.Thr67Ser)	rs111033240	0.00002
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe)	rs760040670	0.00002
NM_000441.2(SLC26A4):c.55del (p.Ser19fs)	rs1057516634	0.00002
NM_000455.5(STK11):c.1109-14C>T	rs780434041	0.00002
NM_000455.5(STK11):c.1168G>A (p.Val390Met)	rs374078532	0.00002
NM_000455.5(STK11):c.1193C>T (p.Ala398Val)	rs768058962	0.00002
NM_000455.5(STK11):c.310A>G (p.Arg104Gly)	rs587782783	0.00002
NM_000455.5(STK11):c.921-8G>A	rs863224362	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_000481.4(AMT):c.574C>T (p.Gln192Ter)	rs121964986	0.00002
NM_000487.6(ARSA):c.1264del (p.Ser421_Leu422insTer)	rs755635209	0.00002
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu)	rs6151411	0.00002
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter)	rs761860059	0.00002
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln)	rs199476382	0.00002
NM_000487.6(ARSA):c.960G>A (p.Trp320Ter)	rs1375757476	0.00002
NM_000487.6(ARSA):c.979G>A (p.Gly327Ser)	rs148092995	0.00002
NM_000487.6(ARSA):c.991G>A (p.Glu331Lys)	rs398123419	0.00002
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro)	rs139573311	0.00002
NM_000492.4(CFTR):c.165-3C>T	rs200337193	0.00002
NM_000492.4(CFTR):c.2908+19G>C	rs370683572	0.00002
NM_000492.4(CFTR):c.328G>C (p.Asp110His)	rs113993958	0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)	rs397508537	0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)	rs374705585	0.00002
NM_000492.4(CFTR):c.490-1G>A	rs397508734	0.00002
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His)	rs28934586	0.00002
NM_000518.5(HBB):c.82G>T (p.Ala28Ser)	rs35424040	0.00002
NM_000520.6(HEXA):c.1146+18A>G	rs1555472543	0.00002
NM_000520.6(HEXA):c.1511G>A (p.Arg504His)	rs121907955	0.00002
NM_000521.4(HEXB):c.1417+5G>A	rs763517499	0.00002
NM_000528.4(MAN2B1):c.1929-1G>T	rs763100457	0.00002
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter)	rs121434331	0.00002
NM_000532.5(PCCB):c.1452A>G (p.Ala484=)	rs781556055	0.00002
NM_000532.5(PCCB):c.45C>T (p.Ser15=)	rs754664563	0.00002
NM_000535.7(PMS2):c.789G>A (p.Leu263=)	rs755394319	0.00002
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu)	rs753508874	0.00002
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys)	rs769904764	0.00002
NM_000546.6(TP53):c.234A>G (p.Ala78=)	rs375099397	0.00002
NM_000546.6(TP53):c.249G>A (p.Ala83=)	rs55754907	0.00002
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)	rs563378859	0.00002
NM_000546.6(TP53):c.665C>T (p.Pro222Leu)	rs146340390	0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	rs11540652	0.00002
NM_000551.4(VHL):c.376G>A (p.Asp126Asn)	rs104893831	0.00002
NM_000551.4(VHL):c.628C>T (p.Arg210Trp)	rs774380450	0.00002
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp)	rs942815730	0.00002
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val)	rs375785084	0.00002
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys)	rs145901144	0.00002
NM_001042432.2(CLN3):c.1001G>A (p.Arg334His)	rs386833695	0.00002
NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter)	rs386833697	0.00002
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)	rs762307622	0.00002
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)	rs119464998	0.00002
NM_001079866.2(BCS1L):c.-50+405A>G	rs898301590	0.00002
NM_001127701.1(SERPINA1):c.682G>A (p.Glu228Lys)	rs199422208	0.00002
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)	rs202218890	0.00002
NM_001130987.2(DYSF):c.3403-2A>G	rs370874727	0.00002
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro)	rs757917335	0.00002
NM_001164277.2(SLC37A4):c.382-10T>C	rs914753772	0.00002
NM_001164277.2(SLC37A4):c.382-4A>C	rs923058912	0.00002
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)	rs781784543	0.00002
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter)	rs776569219	0.00002
NM_001164508.2(NEB):c.2659G>T (p.Glu887Ter)	rs1553558398	0.00002
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter)	rs1057517977	0.00002
NM_001283009.2(RTEL1):c.3730T>C (p.Cys1244Arg)	rs587777037	0.00002
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp)	rs769499327	0.00002
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys)	rs781603756	0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)	rs119103228	0.00002
NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln)	rs751604696	0.00002
NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter)	rs104886039	0.00002
NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp)	rs775773057	0.00002
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter)	rs372118787	0.00002
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter)	rs745918507	0.00002
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu)	rs558477960	0.00002
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)	rs104893692	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.10385-9C>T	rs568809052	0.00002
NM_001378454.1(ALMS1):c.12363-12G>A	rs749504196	0.00002
NM_001378454.1(ALMS1):c.1238-20A>G	rs771811655	0.00002
NM_001378454.1(ALMS1):c.12442C>T (p.Arg4148Ter)	rs192496253	0.00002
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter)	rs150825781	0.00002
NM_001378454.1(ALMS1):c.5532C>T (p.Asn1844=)	rs369656698	0.00002
NM_001378454.1(ALMS1):c.717G>A (p.Ala239=)	rs373972884	0.00002
NM_001378454.1(ALMS1):c.765-12A>G	rs200209691	0.00002
NM_001384140.1(PCDH15):c.2751+2T>C	rs754543131	0.00002
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)	rs202033121	0.00002
NM_001876.4(CPT1A):c.1386del (p.Phe462fs)	rs753776604	0.00002
NM_001918.5(DBT):c.401C>T (p.Pro134Leu)	rs1131691488	0.00002
NM_002225.5(IVD):c.-8T>C	rs566691073	0.00002
NM_002225.5(IVD):c.-9A>T	rs373594717	0.00002
NM_002225.5(IVD):c.596G>T (p.Gly199Val)	rs121434285	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_002617.4(PEX10):c.1A>G (p.Met1Val)	rs886041314	0.00002
NM_002691.4(POLD1):c.469G>A (p.Gly157Arg)	rs774568050	0.00002
NM_002878.4(RAD51D):c.363del (p.Ala122fs)	rs730881935	0.00002
NM_002878.4(RAD51D):c.451C>T (p.Gln151Ter)	rs587781756	0.00002
NM_002878.4(RAD51D):c.576+1G>A	rs781161543	0.00002
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp)	rs267607054	0.00002
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter)	rs767527819	0.00002
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)	rs771748289	0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	rs104894396	0.00002
NM_004360.5(CDH1):c.1004G>A (p.Arg335Gln)	rs373364873	0.00002
NM_004360.5(CDH1):c.1488C>T (p.Ser496=)	rs751346548	0.00002
NM_004360.5(CDH1):c.1684A>G (p.Thr562Ala)	rs587782061	0.00002
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val)	rs121964871	0.00002
NM_004360.5(CDH1):c.2254G>A (p.Val752Ile)	rs587781351	0.00002
NM_004360.5(CDH1):c.2261A>G (p.Tyr754Cys)	rs767613429	0.00002
NM_004360.5(CDH1):c.2399G>A (p.Arg800His)	rs370345996	0.00002
NM_004360.5(CDH1):c.269G>A (p.Arg90Gln)	rs587782647	0.00002
NM_004360.5(CDH1):c.344C>T (p.Thr115Met)	rs370973869	0.00002
NM_004360.5(CDH1):c.510A>G (p.Pro170=)	rs774962542	0.00002
NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp)	rs386833874	0.00002
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)	rs386833880	0.00002
NM_004646.4(NPHS1):c.1714A>G (p.Ser572Gly)	rs755254230	0.00002
NM_004646.4(NPHS1):c.2464G>A (p.Val822Met)	rs267606918	0.00002
NM_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter)	rs150855173	0.00002
NM_004646.4(NPHS1):c.928G>A (p.Asp310Asn)	rs763972372	0.00002
NM_005359.6(SMAD4):c.575C>T (p.Thr192Ile)	rs587780792	0.00002
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr)	rs954192338	0.00002
NM_005609.4(PYGM):c.1366G>A (p.Val456Met)	rs398124208	0.00002
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter)	rs1057517145	0.00002
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro)	rs780375860	0.00002
NM_006019.4(TCIRG1):c.117+1G>A	rs377303800	0.00002
NM_006231.4(POLE):c.7C>G (p.Leu3Val)	rs1018143132	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_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)	rs200928781	0.00002
NM_007194.4(CHEK2):c.1462-7C>G	rs730881707	0.00002
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)	rs371657037	0.00002
NM_007194.4(CHEK2):c.793-17T>C	rs778511901	0.00002
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys)	rs587782460	0.00002
NM_007194.4(CHEK2):c.908+6T>C	rs748988275	0.00002
NM_007294.4(BRCA1):c.1250A>G (p.Asn417Ser)	rs80357113	0.00002
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr)	rs80356895	0.00002
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr)	rs80357480	0.00002
NM_007294.4(BRCA1):c.3130A>G (p.Ile1044Val)	rs80357271	0.00002
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp)	rs80356876	0.00002
NM_007294.4(BRCA1):c.4097-11T>C	rs80358072	0.00002
NM_007294.4(BRCA1):c.4245A>G (p.Glu1415=)	rs41293453	0.00002
NM_007294.4(BRCA1):c.42C>T (p.Val14=)	rs80356827	0.00002
NM_007294.4(BRCA1):c.4676-7C>T	rs80358005	0.00002
NM_007294.4(BRCA1):c.4766G>A (p.Arg1589His)	rs80357341	0.00002
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu)	rs80356943	0.00002
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr)	rs80356968	0.00002
NM_007294.4(BRCA1):c.4993G>A (p.Val1665Met)	rs80357169	0.00002
NM_007294.4(BRCA1):c.5074+6C>G	rs80358032	0.00002
NM_007294.4(BRCA1):c.5328C>T (p.Pro1776=)	rs759867616	0.00002
NM_007294.4(BRCA1):c.5429T>C (p.Val1810Ala)	rs80357451	0.00002
NM_007294.4(BRCA1):c.5504G>A (p.Arg1835Gln)	rs273902776	0.00002
NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg)	rs80357323	0.00002
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg)	rs80357322	0.00002
NM_007294.4(BRCA1):c.891G>A (p.Met297Ile)	rs80357103	0.00002
NM_012203.2(GRHPR):c.608_609del (p.Pro203fs)	rs180177316	0.00002
NM_012203.2(GRHPR):c.735-1G>A	rs180177317	0.00002
NM_012203.2(GRHPR):c.866-2A>G	rs200316691	0.00002
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=)	rs386833990	0.00002
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer)	rs386833992	0.00002
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs)	rs774242915	0.00002
NM_013339.4(ALG6):c.257+2dup	rs745426479	0.00002
NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys)	rs527236086	0.00002
NM_014625.4(NPHS2):c.890C>T (p.Ala297Val)	rs199506378	0.00002
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)	rs190057175	0.00002
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter)	rs154774640	0.00002
NM_019098.5(CNGB3):c.1578+1G>A	rs372006750	0.00002
NM_019098.5(CNGB3):c.646C>T (p.Arg216Ter)	rs768345097	0.00002
NM_020975.6(RET):c.2488G>A (p.Gly830Arg)	rs200127630	0.00002
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys)	rs1247934219	0.00002
NM_024312.5(GNPTAB):c.2715+2T>G	rs281865001	0.00002
NM_024649.5(BBS1):c.1110G>A (p.Pro370=)	rs183771956	0.00002
NM_024649.5(BBS1):c.479+2T>G	rs1353098253	0.00002
NM_024675.4(PALB2):c.1311A>G (p.Lys437=)	rs190489275	0.00002
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr)	rs763598472	0.00002
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn)	rs587781818	0.00002
NM_024675.4(PALB2):c.212-2A>G	rs730881879	0.00002
NM_024675.4(PALB2):c.2360C>T (p.Thr787Ile)	rs201042302	0.00002
NM_024675.4(PALB2):c.2417C>T (p.Pro806Leu)	rs45464991	0.00002
NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser)	rs515726094	0.00002
NM_024675.4(PALB2):c.2859T>C (p.Asp953=)	rs515726101	0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)	rs180177132	0.00002
NM_024675.4(PALB2):c.3356T>C (p.Leu1119Pro)	rs515726116	0.00002
NM_024675.4(PALB2):c.807T>C (p.Gly269=)	rs180177093	0.00002
NM_024675.4(PALB2):c.897T>C (p.Ser299=)	rs180177095	0.00002
NM_024675.4(PALB2):c.995T>A (p.Leu332His)	rs377149139	0.00002
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer)	rs1555202584	0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)	rs575957641	0.00002
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)	rs762047808	0.00002
NM_031885.5(BBS2):c.1910+9T>G	rs751604858	0.00002
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter)	rs1481415459	0.00002
NM_052845.4(MMAB):c.548A>T (p.His183Leu)	rs752866643	0.00002
NM_054012.4(ASS1):c.1194-1G>C	rs727503814	0.00002
NM_054012.4(ASS1):c.814C>T (p.Arg272Cys)	rs762387914	0.00002
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)	rs371265106	0.00002
NM_058216.3(RAD51C):c.706-2A>G	rs587780259	0.00002
NM_133259.4(LRPPRC):c.96C>T (p.Gly32=)	rs886056064	0.00002
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys)	rs267606762	0.00002
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)	rs148617572	0.00002
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu)	rs191201723	0.00002
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly)	rs369626030	0.00002
NM_138694.4(PKHD1):c.9059T>C (p.Leu3020Pro)	rs757148837	0.00002
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter)	rs760382778	0.00002
NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys)	rs764206492	0.00002
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter)	rs386834061	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.5259dup (p.Gly1754fs)	rs786204533	0.00002
NM_152564.5(VPS13B):c.5334del (p.Arg1779fs)	rs763909903	0.00002
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys)	rs759088490	0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=)	rs151045328	0.00002
NM_153717.3(EVC):c.2782+1G>T	rs1007534611	0.00002
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro)	rs864309726	0.00002
NM_199292.3(TH):c.-71C>T	rs549435434	0.00002
NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met)	rs397517966	0.00002
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro)	rs752377040	0.00002
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)	rs375668376	0.00002
NM_206933.4(USH2A):c.5857+2T>C	rs397518022	0.00002
NM_206933.4(USH2A):c.7871C>T (p.Pro2624Leu)	rs748455430	0.00002
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln)	rs727504721	0.00002
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)	rs1057519382	0.00002
NM_000016.6(ACADM):c.1073A>T (p.Lys358Met)	rs988752772	0.00001
NM_000016.6(ACADM):c.1114dup (p.Ala372fs)	rs1057516278	0.00001
NM_000016.6(ACADM):c.1150G>T (p.Glu384Ter)	rs748110745	0.00001
NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter)	rs753928772	0.00001
NM_000016.6(ACADM):c.30+2T>C	rs768596219	0.00001
NM_000016.6(ACADM):c.320T>C (p.Leu107Ser)	rs746136472	0.00001
NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr)	rs875989859	0.00001
NM_000016.6(ACADM):c.388-3T>G	rs764942250	0.00001
NM_000016.6(ACADM):c.395C>G (p.Pro132Arg)	rs875989854	0.00001
NM_000016.6(ACADM):c.447G>T (p.Met149Ile)	rs121434277	0.00001
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala)	rs745844469	0.00001
NM_000016.6(ACADM):c.580A>G (p.Asn194Asp)	rs773677327	0.00001
NM_000016.6(ACADM):c.599+1G>A	rs866388216	0.00001
NM_000016.6(ACADM):c.599+2T>C	rs148260275	0.00001
NM_000016.6(ACADM):c.599+5G>A	rs875989861	0.00001
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys)	rs373715782	0.00001
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr)	rs770273135	0.00001
NM_000016.6(ACADM):c.709-13A>G	rs746483754	0.00001
NM_000016.6(ACADM):c.709-1G>A	rs941714381	0.00001
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu)	rs121434281	0.00001
NM_000016.6(ACADM):c.843A>T (p.Arg281Ser)	rs780504551	0.00001
NM_000016.6(ACADM):c.946-2A>C	rs758753966	0.00001
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly)	rs387906950	0.00001
NM_000017.4(ACADS):c.107dup (p.Thr37fs)	rs750941135	0.00001
NM_000017.4(ACADS):c.1112G>T (p.Gly371Val)	rs796051905	0.00001
NM_000017.4(ACADS):c.1148G>A (p.Arg383His)	rs35233375	0.00001
NM_000017.4(ACADS):c.1164_1165del (p.Glu389fs)	rs1057516421	0.00001
NM_000017.4(ACADS):c.323G>A (p.Gly108Asp)	rs387906951	0.00001
NM_000017.4(ACADS):c.326_328del (p.Cys109_Ala110delinsSer)	rs1346829948	0.00001
NM_000017.4(ACADS):c.682G>A (p.Glu228Lys)	rs755247580	0.00001
NM_000017.4(ACADS):c.820G>A (p.Gly274Ser)	rs746368198	0.00001
NM_000017.4(ACADS):c.991G>A (p.Ala331Thr)	rs1267288663	0.00001
NM_000018.4(ACADVL):c.1183-15A>G	rs765390290	0.00001
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met)	rs149116708	0.00001
NM_000018.4(ACADVL):c.1280G>A (p.Trp427Ter)	rs1057516519	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.138+1G>A	rs747351687	0.00001
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp)	rs113994170	0.00001
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln)	rs398123083	0.00001
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro)	rs759775666	0.00001
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln)	rs200771970	0.00001
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu)	rs1085307648	0.00001
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu)	rs750043368	0.00001
NM_000018.4(ACADVL):c.278-8C>T	rs1178133251	0.00001
NM_000018.4(ACADVL):c.497_498del (p.Ile166fs)	rs1057516369	0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)	rs727503791	0.00001
NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter)	rs371407903	0.00001
NM_000018.4(ACADVL):c.63-18A>G	rs1481782237	0.00001
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)	rs398123091	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_000022.4(ADA):c.218+1G>A	rs528390681	0.00001
NM_000022.4(ADA):c.301C>T (p.Arg101Trp)	rs121908717	0.00001
NM_000022.4(ADA):c.350G>A (p.Trp117Ter)	rs749484894	0.00001
NM_000022.4(ADA):c.43C>G (p.His15Asp)	rs121908725	0.00001
NM_000022.4(ADA):c.445C>T (p.Arg149Trp)	rs121908733	0.00001
NM_000022.4(ADA):c.466C>T (p.Arg156Cys)	rs121908735	0.00001
NM_000022.4(ADA):c.467G>A (p.Arg156His)	rs121908722	0.00001
NM_000022.4(ADA):c.58G>A (p.Gly20Arg)	rs121908724	0.00001
NM_000022.4(ADA):c.631C>T (p.Arg211Cys)	rs121908740	0.00001
NM_000022.4(ADA):c.703C>T (p.Arg235Trp)	rs778809577	0.00001
NM_000022.4(ADA):c.845+1G>C	rs766590645	0.00001
NM_000022.4(ADA):c.845G>A (p.Arg282Gln)	rs751635016	0.00001
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)	rs1161291343	0.00001
NM_000023.4(SGCA):c.313-2A>G	rs1057516650	0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)	rs372210292	0.00001
NM_000023.4(SGCA):c.489del (p.Leu164fs)	rs753650776	0.00001
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)	rs903823830	0.00001
NM_000027.4(AGA):c.1A>G (p.Met1Val)	rs1054938291	0.00001
NM_000027.4(AGA):c.473G>A (p.Trp158Ter)	rs745976989	0.00001
NM_000027.4(AGA):c.800dup (p.Pro268fs)	rs386833436	0.00001
NM_000027.4(AGA):c.940+1G>T	rs386833437	0.00001
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln)	rs180177161	0.00001
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs)	rs180177166	0.00001
NM_000030.3(AGXT):c.122G>T (p.Gly41Val)	rs180177168	0.00001
NM_000030.3(AGXT):c.2T>C (p.Met1Thr)	rs138584408	0.00001
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)	rs180177195	0.00001
NM_000030.3(AGXT):c.752G>A (p.Trp251Ter)	rs786204545	0.00001
NM_000030.3(AGXT):c.777-1G>C	rs180177267	0.00001
NM_000030.3(AGXT):c.907C>T (p.Gln303Ter)	rs180177294	0.00001
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)	rs118204428	0.00001
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp)	rs41281039	0.00001
NM_000035.4(ALDOB):c.375T>C (p.Ile125=)	rs886063292	0.00001
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter)	rs370793608	0.00001
NM_000038.6(APC):c.1121G>A (p.Arg374Gln)	rs141582813	0.00001
NM_000038.6(APC):c.1744-14C>A	rs761403505	0.00001
NM_000038.6(APC):c.228C>T (p.Asn76=)	rs766325173	0.00001
NM_000038.6(APC):c.2385C>T (p.Leu795=)	rs80188155	0.00001
NM_000038.6(APC):c.2677G>A (p.Glu893Lys)	rs199740875	0.00001
NM_000038.6(APC):c.3161A>C (p.His1054Pro)	rs777538550	0.00001
NM_000038.6(APC):c.3555A>G (p.Thr1185=)	rs786201125	0.00001
NM_000038.6(APC):c.3653C>T (p.Thr1218Met)	rs377640390	0.00001
NM_000038.6(APC):c.3909A>G (p.Gln1303=)	rs746289994	0.00001
NM_000038.6(APC):c.4005C>T (p.Ser1335=)	rs751729992	0.00001
NM_000038.6(APC):c.4376C>G (p.Thr1459Ser)	rs756048549	0.00001
NM_000038.6(APC):c.4906G>T (p.Asp1636Tyr)	rs730882128	0.00001
NM_000038.6(APC):c.5017G>A (p.Glu1673Lys)	rs587779796	0.00001
NM_000038.6(APC):c.5290C>G (p.Gln1764Glu)	rs529543591	0.00001
NM_000038.6(APC):c.5805G>A (p.Gln1935=)	rs377040690	0.00001
NM_000038.6(APC):c.597G>A (p.Ala199=)	rs587780601	0.00001
NM_000038.6(APC):c.5981A>T (p.Asp1994Val)	rs774815653	0.00001
NM_000038.6(APC):c.6965A>G (p.Gln2322Arg)	rs1057517549	0.00001
NM_000038.6(APC):c.7533C>T (p.Leu2511=)	rs1057522957	0.00001
NM_000038.6(APC):c.8100T>C (p.Asn2700=)	rs761326128	0.00001
NM_000038.6(APC):c.993G>A (p.Ser331=)	rs148343173	0.00001
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg)	rs753829097	0.00001
NM_000045.4(ARG1):c.372dup (p.Ala125fs)	rs776939220	0.00001
NM_000045.4(ARG1):c.425G>A (p.Gly142Glu)	rs767219084	0.00001
NM_000045.4(ARG1):c.703G>A (p.Gly235Arg)	rs104893948	0.00001
NM_000048.4(ASL):c.1026G>C (p.Val342=)	rs768461888	0.00001
NM_000048.4(ASL):c.1079T>C (p.Met360Thr)	rs875989948	0.00001
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs)	rs757109353	0.00001
NM_000048.4(ASL):c.1300G>T (p.Val434Leu)	rs773071023	0.00001
NM_000048.4(ASL):c.133T>A (p.Tyr45Asn)	rs771012029	0.00001
NM_000048.4(ASL):c.260A>G (p.Asp87Gly)	rs752100894	0.00001
NM_000048.4(ASL):c.281G>A (p.Arg94His)	rs777437569	0.00001
NM_000048.4(ASL):c.292G>T (p.Glu98Ter)	rs770375565	0.00001
NM_000048.4(ASL):c.332G>A (p.Arg111Gln)	rs561367199	0.00001
NM_000048.4(ASL):c.446+2T>C	rs1268519003	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.602+1G>A	rs398123127	0.00001
NM_000048.4(ASL):c.772G>A (p.Glu258Lys)	rs909358635	0.00001
NM_000048.4(ASL):c.890G>A (p.Arg297Gln)	rs750431938	0.00001
NM_000048.4(ASL):c.91G>A (p.Asp31Asn)	rs754995756	0.00001
NM_000049.4(ASPA):c.2T>C (p.Met1Thr)	rs1057516879	0.00001
NM_000049.4(ASPA):c.432G>A (p.Lys144=)	rs754087904	0.00001
NM_000049.4(ASPA):c.47T>C (p.Ile16Thr)	rs769653717	0.00001
NM_000049.4(ASPA):c.539G>T (p.Gly180Val)	rs1014551540	0.00001
NM_000049.4(ASPA):c.541C>A (p.Pro181Thr)	rs786204572	0.00001
NM_000049.4(ASPA):c.770C>G (p.Pro257Arg)	rs377217076	0.00001
NM_000049.4(ASPA):c.859G>A (p.Ala287Thr)	rs774323189	0.00001
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)	rs587779815	0.00001
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter)	rs1555070980	0.00001
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)	rs202173660	0.00001
NM_000051.4(ATM):c.1607+1G>T	rs772926890	0.00001
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter)	rs777849257	0.00001
NM_000051.4(ATM):c.2251-10T>G	rs730881346	0.00001
NM_000051.4(ATM):c.2467-2A>C	rs1555082050	0.00001
NM_000051.4(ATM):c.2945G>A (p.Arg982His)	rs749471737	0.00001
NM_000051.4(ATM):c.2T>C (p.Met1Thr)	rs786203606	0.00001
NM_000051.4(ATM):c.3078-1G>A	rs750663117	0.00001
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro)	rs568461905	0.00001
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter)	rs587779833	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.3G>A (p.Met1Ile)	rs781404312	0.00001
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter)	rs1057520640	0.00001
NM_000051.4(ATM):c.4436+10A>G	rs878853509	0.00001
NM_000051.4(ATM):c.4437-1G>C	rs759520465	0.00001
NM_000051.4(ATM):c.4909+3G>A	rs778685122	0.00001
NM_000051.4(ATM):c.4909+4C>T	rs587782125	0.00001
NM_000051.4(ATM):c.4910-4C>T	rs786202493	0.00001
NM_000051.4(ATM):c.5039C>T (p.Pro1680Leu)	rs587782153	0.00001
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter)	rs764389018	0.00001
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile)	rs587779844	0.00001
NM_000051.4(ATM):c.5290del (p.Leu1764fs)	rs587779846	0.00001
NM_000051.4(ATM):c.5320-10T>C	rs864622731	0.00001
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)	rs786204751	0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter)	rs786204433	0.00001
NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter)	rs876658740	0.00001
NM_000051.4(ATM):c.5825C>T (p.Ala1942Val)	rs730881394	0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)	rs139770721	0.00001
NM_000051.4(ATM):c.6347+1G>A	rs1057517120	0.00001
NM_000051.4(ATM):c.6572+4T>C	rs587780636	0.00001
NM_000051.4(ATM):c.6997dup	rs587781299	0.00001
NM_000051.4(ATM):c.72+1G>A	rs786204088	0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter)	rs730881336	0.00001
NM_000051.4(ATM):c.7984G>A (p.Val2662Ile)	rs1315805984	0.00001
NM_000051.4(ATM):c.802C>T (p.Gln268Ter)	rs557012154	0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)	rs371638537	0.00001
NM_000051.4(ATM):c.829G>T (p.Glu277Ter)	rs876660933	0.00001
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter)	rs778269655	0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)	rs587779872	0.00001
NM_000051.4(ATM):c.8584+2T>C	rs730881326	0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu)	rs747727055	0.00001
NM_000051.4(ATM):c.8786+1G>T	rs17174393	0.00001
NM_000051.4(ATM):c.8814_8824del (p.Met2938fs)	rs758814126	0.00001
NM_000051.4(ATM):c.8850+4A>C	rs587782335	0.00001
NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter)	rs587781698	0.00001
NM_000051.4(ATM):c.967A>G (p.Ile323Val)	rs587781511	0.00001
NM_000053.4(ATP7B):c.1285+2T>A	rs759749626	0.00001
NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu)	rs572122562	0.00001
NM_000053.4(ATP7B):c.1708-5T>G	rs770829226	0.00001
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His)	rs72552285	0.00001
NM_000053.4(ATP7B):c.1946+6T>C	rs751287778	0.00001
NM_000053.4(ATP7B):c.2000T>A (p.Leu667Ter)	rs1474837260	0.00001
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp)	rs1394999756	0.00001
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs)	rs768729972	0.00001
NM_000053.4(ATP7B):c.2267C>T (p.Ala756Val)	rs769927137	0.00001
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn)	rs28942075	0.00001
NM_000053.4(ATP7B):c.2335T>G (p.Trp779Gly)	rs751798708	0.00001
NM_000053.4(ATP7B):c.2355+4A>G	rs776572343	0.00001
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe)	rs751710854	0.00001
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile)	rs777629392	0.00001
NM_000053.4(ATP7B):c.254G>T (p.Gly85Val)	rs786204643	0.00001
NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr)	rs1057520235	0.00001
NM_000053.4(ATP7B):c.2575+1G>C	rs766149114	0.00001
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val)	rs121907994	0.00001
NM_000053.4(ATP7B):c.2730+1G>A	rs1057516425	0.00001
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser)	rs28942076	0.00001
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp)	rs774028495	0.00001
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr)	rs1038582488	0.00001
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu)	rs201038679	0.00001
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg)	rs751078884	0.00001
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)	rs775055397	0.00001
NM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro)	rs1412025509	0.00001
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val)	rs587783309	0.00001
NM_000053.4(ATP7B):c.3243+1G>A	rs748819198	0.00001
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter)	rs753250853	0.00001
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser)	rs761632029	0.00001
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr)	rs560952220	0.00001
NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp)	rs775541743	0.00001
NM_000053.4(ATP7B):c.331C>T (p.Gln111Ter)	rs774221179	0.00001
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)	rs786204547	0.00001
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly)	rs374628199	0.00001
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln)	rs767464491	0.00001
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe)	rs769484789	0.00001
NM_000053.4(ATP7B):c.3842G>A (p.Gly1281Asp)	rs755202606	0.00001
NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met)	rs373748155	0.00001
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys)	rs776300396	0.00001
NM_000053.4(ATP7B):c.3992A>C (p.Tyr1331Ser)	rs1131691741	0.00001
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter)	rs193922110	0.00001
NM_000053.4(ATP7B):c.4064G>A (p.Gly1355Asp)	rs1305262063	0.00001
NM_000053.4(ATP7B):c.4150dup (p.Tyr1384fs)	rs1555282316	0.00001
NM_000053.4(ATP7B):c.51+4A>T	rs369488210	0.00001
NM_000053.4(ATP7B):c.52-1G>T	rs1057517351	0.00001
NM_000053.4(ATP7B):c.562C>T (p.Gln188Ter)	rs1412593296	0.00001
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu)	rs756718353	0.00001
NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile)	rs121918557	0.00001
NM_000055.4(BCHE):c.1240C>T (p.Arg414Cys)	rs745364489	0.00001
NM_000055.4(BCHE):c.884A>G (p.Lys295Arg)	rs115624085	0.00001
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter)	rs1057516964	0.00001
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter)	rs754203833	0.00001
NM_000057.4(BLM):c.1968dup (p.Lys657fs)	rs772785079	0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)	rs786204471	0.00001
NM_000057.4(BLM):c.2488dup (p.Thr830fs)	rs367543019	0.00001
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg)	rs746218707	0.00001
NM_000057.4(BLM):c.3210+4A>G	rs776621429	0.00001
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs)	rs1555423753	0.00001
NM_000057.4(BLM):c.3305_3306del (p.His1102fs)	rs1057516253	0.00001
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs)	rs367543033	0.00001
NM_000057.4(BLM):c.3667dup (p.Thr1223fs)	rs1057517154	0.00001
NM_000057.4(BLM):c.3875-2A>G	rs150421256	0.00001
NM_000059.4(BRCA2):c.-9T>C	rs276174802	0.00001
NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly)	rs80358389	0.00001
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala)	rs80358393	0.00001
NM_000059.4(BRCA2):c.10120A>G (p.Thr3374Ala)	rs80358395	0.00001
NM_000059.4(BRCA2):c.10220A>G (p.Asn3407Ser)	rs80358401	0.00001
NM_000059.4(BRCA2):c.116C>T (p.Ala39Val)	rs398122724	0.00001
NM_000059.4(BRCA2):c.1218C>G (p.Ala406=)	rs276174807	0.00001
NM_000059.4(BRCA2):c.1244A>G (p.His415Arg)	rs80358417	0.00001
NM_000059.4(BRCA2):c.1287A>G (p.Leu429=)	rs80359782	0.00001
NM_000059.4(BRCA2):c.1342C>T (p.Arg448Cys)	rs80358422	0.00001
NM_000059.4(BRCA2):c.1427C>G (p.Ser476Cys)	rs80358431	0.00001
NM_000059.4(BRCA2):c.1441A>G (p.Ile481Val)	rs760559435	0.00001
NM_000059.4(BRCA2):c.1714G>A (p.Val572Ile)	rs587782713	0.00001
NM_000059.4(BRCA2):c.1769T>G (p.Phe590Cys)	rs80358459	0.00001
NM_000059.4(BRCA2):c.1810A>G (p.Lys604Glu)	rs80358467	0.00001
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)	rs80358488	0.00001
NM_000059.4(BRCA2):c.2127G>C (p.Leu709=)	rs554040246	0.00001
NM_000059.4(BRCA2):c.2348T>G (p.Val783Gly)	rs768143929	0.00001
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His)	rs56404215	0.00001
NM_000059.4(BRCA2):c.2443A>G (p.Met815Val)	rs786203814	0.00001
NM_000059.4(BRCA2):c.2488A>G (p.Asn830Asp)	rs574039421	0.00001
NM_000059.4(BRCA2):c.2491G>A (p.Val831Ile)	rs397507287	0.00001
NM_000059.4(BRCA2):c.2698A>G (p.Asn900Asp)	rs55736268	0.00001
NM_000059.4(BRCA2):c.2779A>G (p.Met927Val)	rs786201837	0.00001
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)	rs80359380	0.00001
NM_000059.4(BRCA2):c.3401G>C (p.Ser1134Thr)	rs398122764	0.00001
NM_000059.4(BRCA2):c.3431T>G (p.Val1144Gly)	rs80358587	0.00001
NM_000059.4(BRCA2):c.3453C>G (p.Ile1151Met)	rs80358592	0.00001
NM_000059.4(BRCA2):c.3509C>T (p.Ala1170Val)	rs80358599	0.00001
NM_000059.4(BRCA2):c.3661T>C (p.Ser1221Pro)	rs80358611	0.00001
NM_000059.4(BRCA2):c.3675A>G (p.Thr1225=)	rs276174835	0.00001
NM_000059.4(BRCA2):c.3814A>G (p.Met1272Val)	rs80358624	0.00001
NM_000059.4(BRCA2):c.3871C>T (p.Gln1291Ter)	rs80358631	0.00001
NM_000059.4(BRCA2):c.3967A>T (p.Lys1323Ter)	rs80358648	0.00001
NM_000059.4(BRCA2):c.4046T>C (p.Ile1349Thr)	rs80358654	0.00001
NM_000059.4(BRCA2):c.4054G>T (p.Asp1352Tyr)	rs80358655	0.00001
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys)	rs80358684	0.00001
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs)	rs398122783	0.00001
NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn)	rs80358694	0.00001
NM_000059.4(BRCA2):c.4670C>G (p.Thr1557Ser)	rs80358698	0.00001
NM_000059.4(BRCA2):c.4718G>A (p.Cys1573Tyr)	rs56249050	0.00001
NM_000059.4(BRCA2):c.517-11T>C	rs81002828	0.00001
NM_000059.4(BRCA2):c.517-2A>G	rs81002858	0.00001
NM_000059.4(BRCA2):c.5191C>A (p.His1731Asn)	rs80358745	0.00001
NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile)	rs587782060	0.00001
NM_000059.4(BRCA2):c.5341G>A (p.Asp1781Asn)	rs183478654	0.00001
NM_000059.4(BRCA2):c.5344C>A (p.Gln1782Lys)	rs80358757	0.00001
NM_000059.4(BRCA2):c.5390C>G (p.Ala1797Gly)	rs80358760	0.00001
NM_000059.4(BRCA2):c.5492T>C (p.Ile1831Thr)	rs587782007	0.00001
NM_000059.4(BRCA2):c.5702A>T (p.Glu1901Val)	rs773600818	0.00001
NM_000059.4(BRCA2):c.5723T>C (p.Leu1908Pro)	rs80358797	0.00001
NM_000059.4(BRCA2):c.5753A>G (p.His1918Arg)	rs80358804	0.00001
NM_000059.4(BRCA2):c.5808G>A (p.Met1936Ile)	rs759138390	0.00001
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)	rs80358815	0.00001
NM_000059.4(BRCA2):c.5882G>A (p.Ser1961Asn)	rs80358820	0.00001
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val)	rs56191579	0.00001
NM_000059.4(BRCA2):c.6225A>C (p.Lys2075Asn)	rs80358863	0.00001
NM_000059.4(BRCA2):c.6399_6401del (p.Asn2135del)	rs80359581	0.00001
NM_000059.4(BRCA2):c.6443C>A (p.Ser2148Tyr)	rs80358880	0.00001
NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe)	rs398122560	0.00001
NM_000059.4(BRCA2):c.6665A>G (p.Tyr2222Cys)	rs397507875	0.00001
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys)	rs41293503	0.00001
NM_000059.4(BRCA2):c.673A>G (p.Thr225Ala)	rs80358897	0.00001
NM_000059.4(BRCA2):c.6785T>G (p.Met2262Arg)	rs80358904	0.00001
NM_000059.4(BRCA2):c.682-13A>G	rs81002888	0.00001
NM_000059.4(BRCA2):c.6842-19A>G	rs81002865	0.00001
NM_000059.4(BRCA2):c.6892G>A (p.Glu2298Lys)	rs80358914	0.00001
NM_000059.4(BRCA2):c.6986C>T (p.Pro2329Leu)	rs80358925	0.00001
NM_000059.4(BRCA2):c.7056T>A (p.Pro2352=)	rs276174888	0.00001
NM_000059.4(BRCA2):c.7232A>C (p.Lys2411Thr)	rs80358950	0.00001
NM_000059.4(BRCA2):c.7448G>A (p.Ser2483Asn)	rs80358967	0.00001
NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys)	rs80358968	0.00001
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys)	rs431825354	0.00001
NM_000059.4(BRCA2):c.7637C>T (p.Ser2546Phe)	rs398122586	0.00001
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe)	rs56335340	0.00001
NM_000059.4(BRCA2):c.7878G>A (p.Trp2626Ter)	rs80359013	0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)	rs80359013	0.00001
NM_000059.4(BRCA2):c.7928C>G (p.Ala2643Gly)	rs80359018	0.00001
NM_000059.4(BRCA2):c.7977-15T>G	rs431825361	0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)	rs80359035	0.00001
NM_000059.4(BRCA2):c.8098A>C (p.Ile2700Leu)	rs80359053	0.00001
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)	rs41293511	0.00001
NM_000059.4(BRCA2):c.8356G>A (p.Ala2786Thr)	rs80359077	0.00001
NM_000059.4(BRCA2):c.8366A>G (p.Tyr2789Cys)	rs398122603	0.00001
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg)	rs80359082	0.00001
NM_000059.4(BRCA2):c.856T>C (p.Ser286Pro)	rs80359111	0.00001
NM_000059.4(BRCA2):c.8599A>C (p.Thr2867Pro)	rs80359119	0.00001
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile)	rs80359127	0.00001
NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His)	rs80359128	0.00001
NM_000059.4(BRCA2):c.880G>T (p.Glu294Ter)	rs397508009	0.00001
NM_000059.4(BRCA2):c.8867A>C (p.Glu2956Ala)	rs151174152	0.00001
NM_000059.4(BRCA2):c.8893G>C (p.Asp2965His)	rs80359141	0.00001
NM_000059.4(BRCA2):c.8902A>G (p.Thr2968Ala)	rs587782021	0.00001
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)	rs80359152	0.00001
NM_000059.4(BRCA2):c.9032T>C (p.Leu3011Pro)	rs80359155	0.00001
NM_000059.4(BRCA2):c.9106C>G (p.Gln3036Glu)	rs202155613	0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp)	rs45580035	0.00001
NM_000059.4(BRCA2):c.9364G>A (p.Ala3122Thr)	rs587782313	0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)	rs28897759	0.00001
NM_000059.4(BRCA2):c.9581C>A (p.Pro3194Gln)	rs28897760	0.00001
NM_000059.4(BRCA2):c.9583A>G (p.Thr3195Ala)	rs80359227	0.00001
NM_000059.4(BRCA2):c.9605C>T (p.Pro3202Leu)	rs397507432	0.00001
NM_000059.4(BRCA2):c.971G>C (p.Arg324Thr)	rs397507435	0.00001
NM_000059.4(BRCA2):c.9839C>A (p.Pro3280His)	rs80359246	0.00001
NM_000059.4(BRCA2):c.9905G>A (p.Arg3302Lys)	rs80359249	0.00001
NM_000059.4(BRCA2):c.9934A>G (p.Ile3312Val)	rs80359254	0.00001
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)	rs749099493	0.00001
NM_000070.3(CAPN3):c.1069C>T (p.Arg357Trp)	rs774273767	0.00001
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln)	rs988027905	0.00001
NM_000070.3(CAPN3):c.1194-9A>G	rs374665929	0.00001
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys)	rs777483913	0.00001
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp)	rs777323132	0.00001
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr)	rs774048743	0.00001
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys)	rs776043976	0.00001
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His)	rs863224956	0.00001
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys)	rs1274808359	0.00001
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys)	rs794726871	0.00001
NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp)	rs863224957	0.00001
NM_000070.3(CAPN3):c.146G>A (p.Arg49His)	rs863224958	0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)	rs142004418	0.00001
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln)	rs398123143	0.00001
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys)	rs372438001	0.00001
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys)	rs764370512	0.00001
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val)	rs886042557	0.00001
NM_000070.3(CAPN3):c.2185-2A>G	rs886041335	0.00001
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly)	rs750083132	0.00001
NM_000070.3(CAPN3):c.2290del (p.Asp764fs)	rs886044527	0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)	rs778768583	0.00001
NM_000070.3(CAPN3):c.2440-1G>A	rs886044052	0.00001
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys)	rs1555420468	0.00001
NM_000070.3(CAPN3):c.633G>C (p.Lys211Asn)	rs779701414	0.00001
NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg)	rs1345121557	0.00001
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr)	rs1555420652	0.00001
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu)	rs121434547	0.00001
NM_000071.3(CBS):c.1007G>A (p.Arg336His)	rs760417941	0.00001
NM_000071.3(CBS):c.1111G>A (p.Val371Met)	rs372010465	0.00001
NM_000071.3(CBS):c.1136G>A (p.Arg379Gln)	rs763036586	0.00001
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)	rs121964971	0.00001
NM_000071.3(CBS):c.28del (p.Val10fs)	rs779250698	0.00001
NM_000071.3(CBS):c.371_374dup (p.Met126fs)	rs755625628	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.797G>A (p.Arg266Lys)	rs121964969	0.00001
NM_000071.3(CBS):c.828+1G>A	rs763290176	0.00001
NM_000071.3(CBS):c.982G>A (p.Asp328Asn)	rs758447354	0.00001
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro)	rs104894097	0.00001
NM_000082.4(ERCC8):c.1042-1G>A	rs897535441	0.00001
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val)	rs121434325	0.00001
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter)	rs1060499654	0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val)	rs775373641	0.00001
NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter)	rs769863513	0.00001
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg)	rs752452590	0.00001
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg)	rs201859109	0.00001
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu)	rs121912860	0.00001
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr)	rs74315295	0.00001
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter)	rs201065226	0.00001
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys)	rs28936674	0.00001
NM_000108.5(DLD):c.803_804del (p.Gln268fs)	rs764611160	0.00001
NM_000110.4(DPYD):c.61C>T (p.Arg21Ter)	rs72549310	0.00001
NM_000110.4(DPYD):c.632A>G (p.Tyr211Cys)	rs72549307	0.00001
NM_000110.4(DPYD):c.661G>T (p.Glu221Ter)	rs146170505	0.00001
NM_000110.4(DPYD):c.704G>A (p.Arg235Gln)	rs755416212	0.00001
NM_000124.4(ERCC6):c.1398-2A>G	rs1317145066	0.00001
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu)	rs1026438103	0.00001
NM_000128.4(F11):c.1186C>T (p.Arg396Cys)	rs771896253	0.00001
NM_000128.4(F11):c.1234C>T (p.Gln412Ter)	rs538083600	0.00001
NM_000128.4(F11):c.1247G>A (p.Cys416Tyr)	rs779802284	0.00001
NM_000128.4(F11):c.1253G>T (p.Gly418Val)	rs121965071	0.00001
NM_000128.4(F11):c.1313C>A (p.Ser438Ter)	rs786204724	0.00001
NM_000128.4(F11):c.1432G>A (p.Gly478Arg)	rs542967227	0.00001
NM_000128.4(F11):c.1546G>A (p.Val516Met)	rs200622588	0.00001
NM_000128.4(F11):c.1556G>A (p.Trp519Ter)	rs201007090	0.00001
NM_000128.4(F11):c.166T>C (p.Cys56Arg)	rs121965069	0.00001
NM_000128.4(F11):c.1718G>A (p.Gly573Glu)	rs754109115	0.00001
NM_000128.4(F11):c.1789G>A (p.Glu597Lys)	rs281875251	0.00001
NM_000128.4(F11):c.302A>G (p.Lys101Arg)	rs281875272	0.00001
NM_000128.4(F11):c.599G>A (p.Cys200Tyr)	rs757817254	0.00001
NM_000128.4(F11):c.67C>T (p.Gln23Ter)	rs768409400	0.00001
NM_000128.4(F11):c.723C>G (p.Phe241Leu)	rs281875265	0.00001
NM_000128.4(F11):c.755+2T>C	rs1220869989	0.00001
NM_000135.4(FANCA):c.1226-2A>G	rs773906241	0.00001
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer)	rs757504102	0.00001
NM_000135.4(FANCA):c.1944del (p.Glu648fs)	rs1555549451	0.00001
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter)	rs1448463647	0.00001
NM_000135.4(FANCA):c.2082_2088dup (p.Val697fs)	rs754104046	0.00001
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro)	rs1490352414	0.00001
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro)	rs1173704265	0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter)	rs752160950	0.00001
NM_000135.4(FANCA):c.2602T>G (p.Phe868Val)	rs1555545588	0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)	rs1302083447	0.00001
NM_000135.4(FANCA):c.2853-2A>C	rs947311062	0.00001
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg)	rs191943709	0.00001
NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter)	rs986710868	0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)	rs753700179	0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)	rs745882980	0.00001
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter)	rs940187828	0.00001
NM_000135.4(FANCA):c.597-1G>C	rs147945881	0.00001
NM_000135.4(FANCA):c.709+5G>A	rs759877008	0.00001
NM_000135.4(FANCA):c.793-3C>G	rs749688050	0.00001
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter)	rs372163487	0.00001
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)	rs1291524243	0.00001
NM_000135.4(FANCA):c.894-2A>G	rs976556567	0.00001
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg)	rs1447363475	0.00001
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter)	rs1410356625	0.00001
NM_000136.3(FANCC):c.1533+1G>C	rs753885687	0.00001
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter)	rs1057516291	0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)	rs121917784	0.00001
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter)	rs769039987	0.00001
NM_000137.4(FAH):c.1025C>T (p.Pro342Leu)	rs779040832	0.00001
NM_000137.4(FAH):c.438del (p.Asn146fs)	rs779642226	0.00001
NM_000137.4(FAH):c.520C>T (p.Arg174Ter)	rs781496816	0.00001
NM_000137.4(FAH):c.81+2T>A	rs772895065	0.00001
NM_000137.4(FAH):c.963C>A (p.Tyr321Ter)	rs886044640	0.00001
NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro)	rs1057517008	0.00001
NM_000151.4(G6PC1):c.230+1G>C	rs863224023	0.00001
NM_000151.4(G6PC1):c.231-1G>A	rs1555559279	0.00001
NM_000151.4(G6PC1):c.798del (p.Thr267fs)	rs749323139	0.00001
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys)	rs104894563	0.00001
NM_000152.5(GAA):c.-32-3C>A	rs1055945806	0.00001
NM_000152.5(GAA):c.1115A>T (p.His372Leu)	rs1057516520	0.00001
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs)	rs996798292	0.00001
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)	rs886043148	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.1551+1G>T	rs770780848	0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr)	rs786204720	0.00001
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)	rs121907937	0.00001
NM_000152.5(GAA):c.172C>T (p.Gln58Ter)	rs201185475	0.00001
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr)	rs753505203	0.00001
NM_000152.5(GAA):c.1799G>A (p.Arg600His)	rs377544304	0.00001
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter)	rs786204727	0.00001
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg)	rs549029029	0.00001
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg)	rs914396317	0.00001
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)	rs536906561	0.00001
NM_000152.5(GAA):c.1A>G (p.Met1Val)	rs786204467	0.00001
NM_000152.5(GAA):c.2040+1G>T	rs1057516928	0.00001
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)	rs786204645	0.00001
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln)	rs577042191	0.00001
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly)	rs1479740763	0.00001
NM_000152.5(GAA):c.2647-7G>A	rs192679574	0.00001
NM_000152.5(GAA):c.2706del (p.Lys903fs)	rs1428358278	0.00001
NM_000152.5(GAA):c.365del (p.Met122fs)	rs786204661	0.00001
NM_000152.5(GAA):c.437del (p.Met146fs)	rs1555598869	0.00001
NM_000152.5(GAA):c.670C>T (p.Arg224Trp)	rs757700700	0.00001
NM_000152.5(GAA):c.796C>T (p.Pro266Ser)	rs1555599667	0.00001
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)	rs1057516600	0.00001
NM_000152.5(GAA):c.989G>A (p.Trp330Ter)	rs1555599960	0.00001
NM_000153.4(GALC):c.1174T>C (p.Ser392Pro)	rs1200769534	0.00001
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln)	rs887930208	0.00001
NM_000153.4(GALC):c.129C>G (p.Tyr43Ter)	rs1057516816	0.00001
NM_000153.4(GALC):c.1591C>T (p.Arg531Cys)	rs749893889	0.00001
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn)	rs387906952	0.00001
NM_000153.4(GALC):c.1895T>C (p.Leu632Pro)	rs1418694289	0.00001
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro)	rs1249991480	0.00001
NM_000153.4(GALC):c.195+1G>A	rs1009872980	0.00001
NM_000153.4(GALC):c.205C>T (p.Arg69Ter)	rs771111145	0.00001
NM_000153.4(GALC):c.328+1G>T	rs779701490	0.00001
NM_000153.4(GALC):c.450A>T (p.Pro150=)	rs886050866	0.00001
NM_000153.4(GALC):c.489G>A (p.Trp163Ter)	rs761550284	0.00001
NM_000153.4(GALC):c.749T>C (p.Ile250Thr)	rs886039569	0.00001
NM_000153.4(GALC):c.908C>T (p.Ser303Phe)	rs756352952	0.00001
NM_000153.4(GALC):c.916G>A (p.Ala306Thr)	rs1349064845	0.00001
NM_000153.4(GALC):c.927A>C (p.Leu309Phe)	rs758904079	0.00001
NM_000153.4(GALC):c.9del (p.Glu3fs)	rs1555384380	0.00001
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys)	rs1363497653	0.00001
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr)	rs104894572	0.00001
NM_000154.2(GALK1):c.841G>A (p.Val281Met)	rs753571180	0.00001
NM_000154.2(GALK1):c.919_921del (p.Met307del)	rs1247635972	0.00001
NM_000155.4(GALT):c.307C>T (p.Gln103Ter)	rs1225091358	0.00001
NM_000155.4(GALT):c.379A>G (p.Lys127Glu)	rs111033682	0.00001
NM_000155.4(GALT):c.443G>A (p.Arg148Gln)	rs111033694	0.00001
NM_000155.4(GALT):c.590A>G (p.Asp197Gly)	rs1554709359	0.00001
NM_000155.4(GALT):c.607G>A (p.Glu203Lys)	rs111033736	0.00001
NM_000155.4(GALT):c.610C>T (p.Arg204Ter)	rs111033737	0.00001
NM_000155.4(GALT):c.691C>T (p.Arg231Cys)	rs111033749	0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)	rs368166217	0.00001
NM_000155.4(GALT):c.814C>T (p.Arg272Cys)	rs111033766	0.00001
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys)	rs367543262	0.00001
NM_000155.4(GALT):c.883C>A (p.Pro295Thr)	rs111033783	0.00001
NM_000155.4(GALT):c.938G>A (p.Trp313Ter)	rs1410159094	0.00001
NM_000155.4(GALT):c.947G>A (p.Trp316Ter)	rs111033790	0.00001
NM_000155.4(GALT):c.958G>A (p.Ala320Thr)	rs111033795	0.00001
NM_000155.4(GALT):c.961C>T (p.His321Tyr)	rs367543266	0.00001
NM_000155.4(GALT):c.974C>T (p.Pro325Leu)	rs111033794	0.00001
NM_000155.4(GALT):c.998G>A (p.Arg333Gln)	rs111033808	0.00001
NM_000159.4(GCDH):c.1015A>G (p.Met339Val)	rs752234195	0.00001
NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser)	rs768925619	0.00001
NM_000159.4(GCDH):c.1169G>C (p.Gly390Ala)	rs778153326	0.00001
NM_000159.4(GCDH):c.198del (p.Ile67fs)	rs1057517088	0.00001
NM_000159.4(GCDH):c.226C>T (p.Gln76Ter)	rs898043081	0.00001
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu)	rs886043840	0.00001
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln)	rs755586631	0.00001
NM_000159.4(GCDH):c.395G>A (p.Arg132Gln)	rs200639270	0.00001
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu)	rs139851890	0.00001
NM_000159.4(GCDH):c.479A>G (p.Gln160Arg)	rs1176799813	0.00001
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)	rs777201305	0.00001
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg)	rs749452002	0.00001
NM_000159.4(GCDH):c.636-1G>A	rs398123195	0.00001
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu)	rs758503371	0.00001
NM_000159.4(GCDH):c.848del (p.Leu283fs)	rs761491320	0.00001
NM_000159.4(GCDH):c.852+5G>A	rs886054243	0.00001
NM_000159.4(GCDH):c.873C>A (p.Asn291Lys)	rs1328059662	0.00001
NM_000159.4(GCDH):c.910G>A (p.Ala304Thr)	rs373203481	0.00001
NM_000159.4(GCDH):c.997C>T (p.Gln333Ter)	rs794726972	0.00001
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg)	rs1406713104	0.00001
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln)	rs386833524	0.00001
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala)	rs557412758	0.00001
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter)	rs386833531	0.00001
NM_000170.3(GLDC):c.245T>C (p.Leu82Ser)	rs386833559	0.00001
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter)	rs1430968530	0.00001
NM_000170.3(GLDC):c.2963G>A (p.Arg988Gln)	rs749512886	0.00001
NM_000170.3(GLDC):c.799C>G (p.Pro267Ala)	rs1554648117	0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)	rs386833587	0.00001
NM_000179.3(MSH6):c.1061G>T (p.Gly354Val)	rs730881788	0.00001
NM_000179.3(MSH6):c.1106C>T (p.Thr369Ile)	rs375974046	0.00001
NM_000179.3(MSH6):c.1170T>C (p.Asp390=)	rs55882234	0.00001
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys)	rs63750065	0.00001
NM_000179.3(MSH6):c.1209C>G (p.Leu403=)	rs748603803	0.00001
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro)	rs63750741	0.00001
NM_000179.3(MSH6):c.1347G>A (p.Leu449=)	rs786201760	0.00001
NM_000179.3(MSH6):c.1599G>C (p.Glu533Asp)	rs373726731	0.00001
NM_000179.3(MSH6):c.161G>C (p.Gly54Ala)	rs63751098	0.00001
NM_000179.3(MSH6):c.1677C>T (p.Cys559=)	rs63749893	0.00001
NM_000179.3(MSH6):c.1740G>A (p.Ser580=)	rs762089407	0.00001
NM_000179.3(MSH6):c.1858G>A (p.Gly620Ser)	rs876661043	0.00001
NM_000179.3(MSH6):c.1894A>G (p.Lys632Glu)	rs755847154	0.00001
NM_000179.3(MSH6):c.1999G>C (p.Asp667His)	rs151086192	0.00001
NM_000179.3(MSH6):c.2027A>G (p.Lys676Arg)	rs143643688	0.00001
NM_000179.3(MSH6):c.2035T>C (p.Leu679=)	rs757741943	0.00001
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)	rs587779227	0.00001
NM_000179.3(MSH6):c.2154C>T (p.Ser718=)	rs771662801	0.00001
NM_000179.3(MSH6):c.2300C>G (p.Thr767Ser)	rs587781462	0.00001
NM_000179.3(MSH6):c.2400T>C (p.Val800=)	rs267608071	0.00001
NM_000179.3(MSH6):c.249T>G (p.Ala83=)	rs876658308	0.00001
NM_000179.3(MSH6):c.2827G>T (p.Asp943Tyr)	rs143520357	0.00001
NM_000179.3(MSH6):c.2982C>T (p.Tyr994=)	rs367758473	0.00001
NM_000179.3(MSH6):c.3084A>T (p.Ser1028=)	rs786201843	0.00001
NM_000179.3(MSH6):c.3198T>C (p.Tyr1066=)	rs199643502	0.00001
NM_000179.3(MSH6):c.3233T>C (p.Val1078Ala)	rs376452612	0.00001
NM_000179.3(MSH6):c.3255C>G (p.Thr1085=)	rs371568610	0.00001
NM_000179.3(MSH6):c.3261C>T (p.Pro1087=)	rs370226185	0.00001
NM_000179.3(MSH6):c.3334G>A (p.Asp1112Asn)	rs773955368	0.00001
NM_000179.3(MSH6):c.333C>T (p.Tyr111=)	rs786202772	0.00001
NM_000179.3(MSH6):c.363C>T (p.Arg121=)	rs587779276	0.00001
NM_000179.3(MSH6):c.3936T>C (p.Val1312=)	rs61753796	0.00001
NM_000179.3(MSH6):c.3949C>G (p.His1317Asp)	rs759092293	0.00001
NM_000179.3(MSH6):c.4002-4T>C	rs370428032	0.00001
NM_000179.3(MSH6):c.458-17A>G	rs554847828	0.00001
NM_000179.3(MSH6):c.533G>A (p.Arg178His)	rs786204186	0.00001
NM_000179.3(MSH6):c.87C>G (p.Arg29=)	rs778354962	0.00001
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter)	rs1243779049	0.00001
NM_000182.5(HADHA):c.180+1G>A	rs786205088	0.00001
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg)	rs200438844	0.00001
NM_000182.5(HADHA):c.315-1G>A	rs1458898996	0.00001
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter)	rs137852775	0.00001
NM_000187.4(HGD):c.11T>A (p.Leu4Ter)	rs786204422	0.00001
NM_000187.4(HGD):c.15+1G>A	rs552207335	0.00001
NM_000187.4(HGD):c.347T>C (p.Leu116Pro)	rs569846003	0.00001
NM_000187.4(HGD):c.365C>T (p.Ala122Val)	rs544956641	0.00001
NM_000187.4(HGD):c.473C>T (p.Pro158Leu)	rs375396766	0.00001
NM_000187.4(HGD):c.674G>A (p.Arg225His)	rs562853291	0.00001
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)	rs770225915	0.00001
NM_000191.3(HMGCL):c.497+4A>G	rs568718845	0.00001
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr)	rs760106433	0.00001
NM_000191.3(HMGCL):c.796T>C (p.Cys266Arg)	rs757884073	0.00001
NM_000191.3(HMGCL):c.863T>A (p.Leu288Ter)	rs1425615804	0.00001
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)	rs104894640	0.00001
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser)	rs1555620214	0.00001
NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter)	rs1323958195	0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)	rs104894641	0.00001
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr)	rs1057521146	0.00001
NM_000199.5(SGSH):c.1429del (p.Asp477fs)	rs781572815	0.00001
NM_000199.5(SGSH):c.1A>G (p.Met1Val)	rs1250300189	0.00001
NM_000199.5(SGSH):c.221G>A (p.Arg74His)	rs778336949	0.00001
NM_000199.5(SGSH):c.2T>C (p.Met1Thr)	rs1488660868	0.00001
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln)	rs104894638	0.00001
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg)	rs753666460	0.00001
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter)	rs886041370	0.00001
NM_000199.5(SGSH):c.726C>T (p.Thr242=)	rs1347877363	0.00001
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn)	rs1046551417	0.00001
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu)	rs745884647	0.00001
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg)	rs398123246	0.00001
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg)	rs762903007	0.00001
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)	rs121965027	0.00001
NM_000203.5(IDUA):c.245A>C (p.His82Pro)	rs794727239	0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)	rs794726878	0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)	rs547818652	0.00001
NM_000232.5(SGCB):c.265G>A (p.Val89Met)	rs762652676	0.00001
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)	rs555514820	0.00001
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe)	rs762412447	0.00001
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg)	rs28936383	0.00001
NM_000232.5(SGCB):c.499G>A (p.Gly167Ser)	rs779516489	0.00001
NM_000232.5(SGCB):c.621+1G>T	rs1264362642	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_000243.3(MEFV):c.1894G>A (p.Gly632Ser)	rs104895128	0.00001
NM_000249.4(MLH1):c.*3A>G	rs587778880	0.00001
NM_000249.4(MLH1):c.1007G>A (p.Gly336Asp)	rs587781750	0.00001
NM_000249.4(MLH1):c.1039-5T>C	rs587782626	0.00001
NM_000249.4(MLH1):c.1122T>G (p.Ser374Arg)	rs759868546	0.00001
NM_000249.4(MLH1):c.1202G>A (p.Ser401Asn)	rs587779951	0.00001
NM_000249.4(MLH1):c.1410-8C>T	rs1057521668	0.00001
NM_000249.4(MLH1):c.1637A>G (p.Lys546Arg)	rs587779954	0.00001
NM_000249.4(MLH1):c.1731+8T>C	rs370108219	0.00001
NM_000249.4(MLH1):c.1775G>C (p.Ser592Thr)	rs587782621	0.00001
NM_000249.4(MLH1):c.1896+7C>T	rs863224339	0.00001
NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys)	rs587778986	0.00001
NM_000249.4(MLH1):c.2172G>A (p.Leu724=)	rs780045031	0.00001
NM_000249.4(MLH1):c.595G>C (p.Glu199Gln)	rs63749887	0.00001
NM_000249.4(MLH1):c.636C>T (p.Thr212=)	rs138735345	0.00001
NM_000249.4(MLH1):c.682C>A (p.Leu228Met)	rs751628735	0.00001
NM_000249.4(MLH1):c.887T>C (p.Leu296Ser)	rs63750547	0.00001
NM_000251.3(MSH2):c.-9G>C	rs547444746	0.00001
NM_000251.3(MSH2):c.1077-15G>T	rs753277524	0.00001
NM_000251.3(MSH2):c.115C>A (p.Arg39=)	rs786202334	0.00001
NM_000251.3(MSH2):c.1171G>A (p.Ala391Thr)	rs878853798	0.00001
NM_000251.3(MSH2):c.123C>G (p.Asp41Glu)	rs761960690	0.00001
NM_000251.3(MSH2):c.1311G>T (p.Val437=)	rs730881781	0.00001
NM_000251.3(MSH2):c.1462T>G (p.Leu488Val)	rs587781314	0.00001
NM_000251.3(MSH2):c.1640A>G (p.Asn547Ser)	rs267607967	0.00001
NM_000251.3(MSH2):c.1760-10T>A	rs767536391	0.00001
NM_000251.3(MSH2):c.1796T>C (p.Leu599Ser)	rs747504492	0.00001
NM_000251.3(MSH2):c.1804C>G (p.Leu602Val)	rs748797209	0.00001
NM_000251.3(MSH2):c.1862G>A (p.Arg621Gln)	rs759263820	0.00001
NM_000251.3(MSH2):c.2006-26dup	rs781614743	0.00001
NM_000251.3(MSH2):c.2006-4G>A	rs369853630	0.00001
NM_000251.3(MSH2):c.2048G>T (p.Gly683Val)	rs755920849	0.00001
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile)	rs63750790	0.00001
NM_000251.3(MSH2):c.2437A>G (p.Met813Val)	rs63749841	0.00001
NM_000251.3(MSH2):c.274C>G (p.Leu92Val)	rs587779154	0.00001
NM_000251.3(MSH2):c.383T>G (p.Leu128Arg)	rs730881768	0.00001
NM_000251.3(MSH2):c.459C>T (p.Ser153=)	rs63751065	0.00001
NM_000251.3(MSH2):c.507A>G (p.Ile169Met)	rs748762580	0.00001
NM_000251.3(MSH2):c.566C>G (p.Ala189Gly)	rs141021599	0.00001
NM_000251.3(MSH2):c.5C>T (p.Ala2Val)	rs587778521	0.00001
NM_000251.3(MSH2):c.610G>A (p.Gly204Arg)	rs63750574	0.00001
NM_000251.3(MSH2):c.646-3T>C	rs267607930	0.00001
NM_000251.3(MSH2):c.728G>A (p.Arg243Gln)	rs63751455	0.00001
NM_000251.3(MSH2):c.972G>A (p.Gln324=)	rs63750505	0.00001
NM_000255.4(MMUT):c.1084-2A>G	rs879253839	0.00001
NM_000255.4(MMUT):c.1208G>A (p.Arg403Gln)	rs774457503	0.00001
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys)	rs765284825	0.00001
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe)	rs753461919	0.00001
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg)	rs121918249	0.00001
NM_000255.4(MMUT):c.556A>G (p.Met186Val)	rs148331800	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.3262C>T (p.Gln1088Ter)	rs376535635	0.00001
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met)	rs111033174	0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro)	rs368657015	0.00001
NM_000263.4(NAGLU):c.1004A>G (p.Tyr335Cys)	rs768918822	0.00001
NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter)	rs376090795	0.00001
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg)	rs768814260	0.00001
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp)	rs104894596	0.00001
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln)	rs200909691	0.00001
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs)	rs778021009	0.00001
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro)	rs1215582852	0.00001
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His)	rs104894593	0.00001
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu)	rs527236037	0.00001
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His)	rs1555621454	0.00001
NM_000263.4(NAGLU):c.384-1G>A	rs764134891	0.00001
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter)	rs886043792	0.00001
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg)	rs1358994052	0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)	rs1052471595	0.00001
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu)	rs1555637232	0.00001
NM_000271.5(NPC1):c.1156A>G (p.Ser386Gly)	rs1192824648	0.00001
NM_000271.5(NPC1):c.1327-2dup	rs1555636712	0.00001
NM_000271.5(NPC1):c.1526A>C (p.Tyr509Ser)	rs1190383931	0.00001
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu)	rs369368181	0.00001
NM_000271.5(NPC1):c.1947+5G>C	rs770321568	0.00001
NM_000271.5(NPC1):c.1990G>A (p.Val664Met)	rs376213990	0.00001
NM_000271.5(NPC1):c.2196dup (p.Pro733fs)	rs398123284	0.00001
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser)	rs768999208	0.00001
NM_000271.5(NPC1):c.2780C>T (p.Ala927Val)	rs753768576	0.00001
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln)	rs786204714	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.2893C>T (p.Gln965Ter)	rs786204586	0.00001
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys)	rs28942108	0.00001
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs)	rs756815030	0.00001
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys)	rs781261962	0.00001
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met)	rs28942104	0.00001
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter)	rs786204455	0.00001
NM_000271.5(NPC1):c.3246-2A>G	rs886042268	0.00001
NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu)	rs746715353	0.00001
NM_000271.5(NPC1):c.3309dup (p.Val1104fs)	rs1057517194	0.00001
NM_000271.5(NPC1):c.3312G>A (p.Val1104=)	rs746476066	0.00001
NM_000271.5(NPC1):c.3566A>G (p.Glu1189Gly)	rs369098773	0.00001
NM_000271.5(NPC1):c.3591+1G>A	rs786200877	0.00001
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys)	rs758902805	0.00001
NM_000271.5(NPC1):c.3745A>G (p.Ser1249Gly)	rs1415921261	0.00001
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr)	rs80358252	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.1199+17G>A	rs62508613	0.00001
NM_000277.3(PAH):c.1199G>A (p.Arg400Lys)	rs199475658	0.00001
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys)	rs764974157	0.00001
NM_000277.3(PAH):c.1330C>T (p.Leu444Phe)	rs1402168594	0.00001
NM_000277.3(PAH):c.161T>C (p.Leu54Ser)	rs199475677	0.00001
NM_000277.3(PAH):c.168+1G>A	rs62514898	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.281T>G (p.Ile94Ser)	rs62508677	0.00001
NM_000277.3(PAH):c.293T>C (p.Leu98Ser)	rs62517167	0.00001
NM_000277.3(PAH):c.307G>T (p.Gly103Cys)	rs752792040	0.00001
NM_000277.3(PAH):c.320A>G (p.His107Arg)	rs542645236	0.00001
NM_000277.3(PAH):c.386A>G (p.Asp129Gly)	rs199475623	0.00001
NM_000277.3(PAH):c.441+4A>G	rs62508586	0.00001
NM_000277.3(PAH):c.442-5C>G	rs62514909	0.00001
NM_000277.3(PAH):c.463C>T (p.Arg155Cys)	rs539743701	0.00001
NM_000277.3(PAH):c.511G>A (p.Gly171Arg)	rs199475613	0.00001
NM_000277.3(PAH):c.520A>G (p.Ile174Val)	rs199475632	0.00001
NM_000277.3(PAH):c.558_559del (p.Trp187fs)	rs62517207	0.00001
NM_000277.3(PAH):c.559T>C (p.Trp187Arg)	rs62507272	0.00001
NM_000277.3(PAH):c.561G>A (p.Trp187Ter)	rs62507336	0.00001
NM_000277.3(PAH):c.601C>T (p.His201Tyr)	rs62517205	0.00001
NM_000277.3(PAH):c.635T>C (p.Leu212Pro)	rs62517198	0.00001
NM_000277.3(PAH):c.712A>C (p.Thr238Pro)	rs199475577	0.00001
NM_000277.3(PAH):c.718T>G (p.Phe240Val)	rs62507337	0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)	rs62508588	0.00001
NM_000277.3(PAH):c.737C>T (p.Ala246Val)	rs199475610	0.00001
NM_000277.3(PAH):c.775G>A (p.Ala259Thr)	rs62642932	0.00001
NM_000277.3(PAH):c.776C>T (p.Ala259Val)	rs118203921	0.00001
NM_000277.3(PAH):c.828G>A (p.Met276Ile)	rs62514954	0.00001
NM_000277.3(PAH):c.830A>G (p.Tyr277Cys)	rs62516155	0.00001
NM_000277.3(PAH):c.842+3G>C	rs62507324	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.941C>A (p.Pro314His)	rs62642940	0.00001
NM_000277.3(PAH):c.968_970del (p.Thr323del)	rs199475618	0.00001
NM_000277.3(PAH):c.969+6T>A	rs62517196	0.00001
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys)	rs62508578	0.00001
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu)	rs1443858896	0.00001
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter)	rs768703749	0.00001
NM_000282.4(PCCA):c.1540+1G>C	rs199604072	0.00001
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del)	rs937519016	0.00001
NM_000282.4(PCCA):c.1746G>A (p.Ser582=)	rs192171304	0.00001
NM_000282.4(PCCA):c.1747-1G>C	rs879253803	0.00001
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter)	rs776496862	0.00001
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter)	rs1194679272	0.00001
NM_000282.4(PCCA):c.1997T>A (p.Met666Lys)	rs999241357	0.00001
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg)	rs771438170	0.00001
NM_000282.4(PCCA):c.2041-2A>G	rs776281864	0.00001
NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter)	rs1241896966	0.00001
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro)	rs794727479	0.00001
NM_000282.4(PCCA):c.2dup (p.Met1fs)	rs1179536678	0.00001
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg)	rs1444049793	0.00001
NM_000287.4(PEX6):c.1841del (p.Leu614fs)	rs863225083	0.00001
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp)	rs267608239	0.00001
NM_000287.4(PEX6):c.2362G>A (p.Val788Met)	rs267608240	0.00001
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp)	rs267608246	0.00001
NM_000287.4(PEX6):c.35T>C (p.Phe12Ser)	rs61752139	0.00001
NM_000287.4(PEX6):c.659G>T (p.Gly220Val)	rs267608203	0.00001
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter)	rs121909154	0.00001
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)	rs187131358	0.00001
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter)	rs199422211	0.00001
NM_000295.5(SERPINA1):c.115C>A (p.His39Asn)	rs138070585	0.00001
NM_000295.5(SERPINA1):c.646+1G>T	rs751235320	0.00001
NM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg)	rs764220898	0.00001
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg)	rs755402538	0.00001
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg)	rs767831048	0.00001
NM_000303.3(PMM2):c.560G>A (p.Trp187Ter)	rs1057516886	0.00001
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly)	rs80338704	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_000310.4(PPT1):c.272A>C (p.Gln91Pro)	rs386833639	0.00001
NM_000310.4(PPT1):c.3G>A (p.Met1Ile)	rs386833645	0.00001
NM_000310.4(PPT1):c.424C>T (p.Gln142Ter)	rs796052925	0.00001
NM_000310.4(PPT1):c.490C>T (p.Arg164Ter)	rs386833649	0.00001
NM_000310.4(PPT1):c.550G>A (p.Glu184Lys)	rs386833655	0.00001
NM_000310.4(PPT1):c.628-1G>T	rs386833659	0.00001
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu)	rs746043871	0.00001
NM_000310.4(PPT1):c.776dup (p.Glu260fs)	rs1349528345	0.00001
NM_000314.8(PTEN):c.210-9T>C	rs751744545	0.00001
NM_000314.8(PTEN):c.738G>A (p.Pro246=)	rs774364894	0.00001
NM_000317.3(PTS):c.146A>G (p.His49Arg)	rs750229518	0.00001
NM_000317.3(PTS):c.155A>G (p.Asn52Ser)	rs104894275	0.00001
NM_000317.3(PTS):c.186+1G>T	rs1256819927	0.00001
NM_000317.3(PTS):c.187A>G (p.Ile63Val)	rs778053171	0.00001
NM_000317.3(PTS):c.216T>A (p.Asn72Lys)	rs200279736	0.00001
NM_000317.3(PTS):c.260C>T (p.Pro87Leu)	rs765406631	0.00001
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter)	rs145882709	0.00001
NM_000317.3(PTS):c.347A>G (p.Asp116Gly)	rs104894279	0.00001
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter)	rs61752124	0.00001
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe)	rs1169420841	0.00001
NM_000330.4(RS1):c.590G>A (p.Arg197His)	rs281865355	0.00001
NM_000349.3(STAR):c.135del (p.Ser46fs)	rs193922393	0.00001
NM_000349.3(STAR):c.229C>T (p.Gln77Ter)	rs781281145	0.00001
NM_000349.3(STAR):c.545G>A (p.Arg182His)	rs104894086	0.00001
NM_000349.3(STAR):c.559G>A (p.Val187Met)	rs104894089	0.00001
NM_000352.6(ABCC8):c.1672-20A>G	rs931436550	0.00001
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)	rs72559734	0.00001
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln)	rs547150342	0.00001
NM_000352.6(ABCC8):c.2556+1G>A	rs749271190	0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)	rs541269678	0.00001
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg)	rs761749884	0.00001
NM_000352.6(ABCC8):c.3400-1G>A	rs576684889	0.00001
NM_000352.6(ABCC8):c.4119+1G>A	rs797045211	0.00001
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)	rs193922402	0.00001
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn)	rs72559716	0.00001
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)	rs72559715	0.00001
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp)	rs28936371	0.00001
NM_000352.6(ABCC8):c.4478G>A (p.Arg1493Gln)	rs746480424	0.00001
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer)	rs770664202	0.00001
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)	rs863225280	0.00001
NM_000353.3(TAT):c.1250G>A (p.Arg417Gln)	rs757879229	0.00001
NM_000353.3(TAT):c.1297C>T (p.Arg433Trp)	rs761817519	0.00001
NM_000353.3(TAT):c.1298G>A (p.Arg433Gln)	rs775488556	0.00001
NM_000353.3(TAT):c.355C>T (p.Arg119Trp)	rs758306831	0.00001
NM_000359.3(TGM1):c.1075G>A (p.Val359Met)	rs202037016	0.00001
NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter)	rs397514522	0.00001
NM_000359.3(TGM1):c.184G>T (p.Gly62Ter)	rs886041950	0.00001
NM_000359.3(TGM1):c.2059C>T (p.Arg687Cys)	rs147516124	0.00001
NM_000359.3(TGM1):c.2290C>T (p.Arg764Cys)	rs201853046	0.00001
NM_000359.3(TGM1):c.379C>T (p.Arg127Ter)	rs886041250	0.00001
NM_000359.3(TGM1):c.401A>G (p.Tyr134Cys)	rs147916609	0.00001
NM_000359.3(TGM1):c.424C>T (p.Arg142Cys)	rs121918716	0.00001
NM_000359.3(TGM1):c.428G>A (p.Arg143His)	rs121918719	0.00001
NM_000359.3(TGM1):c.430G>A (p.Gly144Arg)	rs778635368	0.00001
NM_000359.3(TGM1):c.579G>A (p.Trp193Ter)	rs199678720	0.00001
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser)	rs121918732	0.00001
NM_000359.3(TGM1):c.790C>T (p.Arg264Trp)	rs201868387	0.00001
NM_000359.3(TGM1):c.802del (p.Val268fs)	rs1322979131	0.00001
NM_000359.3(TGM1):c.872G>A (p.Gly291Asp)	rs780990272	0.00001
NM_000359.3(TGM1):c.943C>T (p.Arg315Cys)	rs397514525	0.00001
NM_000360.4(TH):c.1282C>T (p.Gln428Ter)	rs786204540	0.00001
NM_000360.4(TH):c.203del (p.Leu68fs)	rs1554923852	0.00001
NM_000360.4(TH):c.2T>C (p.Met1Thr)	rs201932766	0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro)	rs121917763	0.00001
NM_000360.4(TH):c.848C>T (p.Thr283Met)	rs121917764	0.00001
NM_000360.4(TH):c.850G>A (p.Gly284Ser)	rs1288483479	0.00001
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp)	rs397515522	0.00001
NM_000370.3(TTPA):c.2T>C (p.Met1Thr)	rs786204758	0.00001
NM_000380.4(XPA):c.323G>A (p.Cys108Tyr)	rs104894131	0.00001
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser)	rs72547575	0.00001
NM_000382.3(ALDH3A2):c.1443+1G>A	rs199548781	0.00001
NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys)	rs72547566	0.00001
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs)	rs386833672	0.00001
NM_000383.4(AIRE):c.1566+2T>A	rs1057516985	0.00001
NM_000383.4(AIRE):c.173C>A (p.Ala58Asp)	rs747941115	0.00001
NM_000383.4(AIRE):c.1A>G (p.Met1Val)	rs121434258	0.00001
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys)	rs1231469574	0.00001
NM_000383.4(AIRE):c.463+2T>C	rs786204478	0.00001
NM_000383.4(AIRE):c.62C>T (p.Ala21Val)	rs179363886	0.00001
NM_000391.4(TPP1):c.1076-2A>G	rs1424116749	0.00001
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu)	rs121908202	0.00001
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter)	rs1184563885	0.00001
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg)	rs121908195	0.00001
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg)	rs796053439	0.00001
NM_000396.4(CTSK):c.136C>T (p.Arg46Trp)	rs371277428	0.00001
NM_000396.4(CTSK):c.926T>C (p.Leu309Pro)	rs29001685	0.00001
NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn)	rs749980306	0.00001
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val)	rs757926581	0.00001
NM_000404.4(GLB1):c.1438A>G (p.Met480Val)	rs1280400930	0.00001
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys)	rs72555365	0.00001
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys)	rs968221254	0.00001
NM_000404.4(GLB1):c.1454A>G (p.Tyr485Cys)	rs1553606400	0.00001
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys)	rs72555358	0.00001
NM_000404.4(GLB1):c.1471G>A (p.Asp491Asn)	rs780232995	0.00001
NM_000404.4(GLB1):c.1479+1G>A	rs1022476871	0.00001
NM_000404.4(GLB1):c.1481G>T (p.Gly494Val)	rs202007119	0.00001
NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu)	rs776327443	0.00001
NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter)	rs778375259	0.00001
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys)	rs72555371	0.00001
NM_000404.4(GLB1):c.245+1G>A	rs778423653	0.00001
NM_000404.4(GLB1):c.245C>T (p.Thr82Met)	rs72555393	0.00001
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly)	rs398123355	0.00001
NM_000404.4(GLB1):c.572G>A (p.Ser191Asn)	rs1553611055	0.00001
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp)	rs376663785	0.00001
NM_000404.4(GLB1):c.902C>T (p.Ala301Val)	rs750531880	0.00001
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys)	rs766199971	0.00001
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr)	rs587777443	0.00001
NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter)	rs751646311	0.00001
NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter)	rs771510541	0.00001
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys)	rs969485098	0.00001
NM_000426.4(LAMA2):c.2176T>C (p.Cys726Arg)	rs920771326	0.00001
NM_000426.4(LAMA2):c.2749+2dup	rs759144210	0.00001
NM_000426.4(LAMA2):c.3556-13T>A	rs775278003	0.00001
NM_000426.4(LAMA2):c.396+1G>T	rs770617208	0.00001
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter)	rs200923373	0.00001
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter)	rs398123378	0.00001
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter)	rs398123383	0.00001
NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter)	rs762806915	0.00001
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)	rs786204474	0.00001
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys)	rs147952620	0.00001
NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg)	rs142498437	0.00001
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter)	rs397516416	0.00001
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser)	rs786204739	0.00001
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val)	rs397516424	0.00001
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)	rs200455203	0.00001
NM_000441.2(SLC26A4):c.2005G>A (p.Asp669Asn)	rs777641484	0.00001
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter)	rs752807925	0.00001
NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro)	rs1045933779	0.00001
NM_000441.2(SLC26A4):c.2319+1G>A	rs542079779	0.00001
NM_000441.2(SLC26A4):c.259G>T (p.Asp87Tyr)	rs1554352718	0.00001
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile)	rs786204426	0.00001
NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr)	rs1205712508	0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)	rs111033348	0.00001
NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter)	rs397516430	0.00001
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)	rs111033242	0.00001
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg)	rs539699299	0.00001
NM_000441.2(SLC26A4):c.916dup (p.Val306fs)	rs768245266	0.00001
NM_000455.5(STK11):c.1012G>A (p.Val338Met)	rs587782302	0.00001
NM_000455.5(STK11):c.1137C>T (p.His379=)	rs786201505	0.00001
NM_000455.5(STK11):c.1150C>T (p.Arg384Trp)	rs752015385	0.00001
NM_000455.5(STK11):c.1151G>A (p.Arg384Gln)	rs371102112	0.00001
NM_000455.5(STK11):c.1174A>G (p.Met392Val)	rs565993396	0.00001
NM_000455.5(STK11):c.1190C>T (p.Ala397Val)	rs558040549	0.00001
NM_000455.5(STK11):c.1208A>G (p.Lys403Arg)	rs587781633	0.00001
NM_000455.5(STK11):c.1217C>T (p.Ala406Val)	rs748202003	0.00001
NM_000455.5(STK11):c.1249G>T (p.Ala417Ser)	rs587782876	0.00001
NM_000455.5(STK11):c.1276C>T (p.Arg426Trp)	rs587782687	0.00001
NM_000455.5(STK11):c.318G>A (p.Arg106=)	rs777784520	0.00001
NM_000455.5(STK11):c.434A>G (p.Glu145Gly)	rs369764220	0.00001
NM_000455.5(STK11):c.449T>C (p.Val150Ala)	rs587781802	0.00001
NM_000455.5(STK11):c.464+3G>A	rs1060499956	0.00001
NM_000455.5(STK11):c.559G>A (p.Gly187Ser)	rs587782032	0.00001
NM_000455.5(STK11):c.594C>T (p.Ala198=)	rs772940660	0.00001
NM_000455.5(STK11):c.614C>T (p.Ala205Val)	rs587782468	0.00001
NM_000455.5(STK11):c.617C>T (p.Ala206Val)	rs764244639	0.00001
NM_000455.5(STK11):c.632G>A (p.Arg211Gln)	rs730881982	0.00001
NM_000455.5(STK11):c.902G>A (p.Arg301Gln)	rs370222210	0.00001
NM_000455.5(STK11):c.94A>G (p.Thr32Ala)	rs755210880	0.00001
NM_000455.5(STK11):c.957A>G (p.Pro319=)	rs755126393	0.00001
NM_000455.5(STK11):c.976C>A (p.Pro326Thr)	rs771632414	0.00001
NM_000465.4(BARD1):c.1360C>G (p.Pro454Ala)	rs730881408	0.00001
NM_000465.4(BARD1):c.1448A>G (p.His483Arg)	rs587781874	0.00001
NM_000465.4(BARD1):c.2129A>T (p.Asp710Val)	rs150121935	0.00001
NM_000465.4(BARD1):c.54C>G (p.Asn18Lys)	rs587780032	0.00001
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg)	rs61750407	0.00001
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter)	rs61750409	0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)	rs121434455	0.00001
NM_000466.3(PEX1):c.1A>T (p.Met1Leu)	rs1057517501	0.00001
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter)	rs398123409	0.00001
NM_000466.3(PEX1):c.2859dup (p.Thr954fs)	rs1057517472	0.00001
NM_000466.3(PEX1):c.2926+2T>C	rs267608180	0.00001
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His)	rs1484321655	0.00001
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter)	rs762679408	0.00001
NM_000478.6(ALPL):c.535G>A (p.Ala179Thr)	rs121918000	0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu)	rs199590449	0.00001
NM_000478.6(ALPL):c.668G>A (p.Arg223Gln)	rs199665722	0.00001
NM_000481.4(AMT):c.212A>C (p.His71Pro)	rs1053797603	0.00001
NM_000481.4(AMT):c.664C>T (p.Arg222Cys)	rs781466698	0.00001
NM_000481.4(AMT):c.793C>T (p.Arg265Cys)	rs779483959	0.00001
NM_000487.6(ARSA):c.1108-3C>G	rs1001100248	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.1471T>G (p.Cys491Gly)	rs199476388	0.00001
NM_000487.6(ARSA):c.474C>A (p.Cys158Ter)	rs768028181	0.00001
NM_000487.6(ARSA):c.608A>G (p.Tyr203Cys)	rs199476345	0.00001
NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys)	rs527640350	0.00001
NM_000487.6(ARSA):c.737G>A (p.Arg246His)	rs199476366	0.00001
NM_000487.6(ARSA):c.746T>C (p.Phe249Ser)	rs199476384	0.00001
NM_000487.6(ARSA):c.769G>C (p.Asp257His)	rs80338819	0.00001
NM_000487.6(ARSA):c.827C>T (p.Thr276Met)	rs74315472	0.00001
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr)	rs199476386	0.00001
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys)	rs74315473	0.00001
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser)	rs199476349	0.00001
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser)	rs74315459	0.00001
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr)	rs397508191	0.00001
NM_000492.4(CFTR):c.1585-9412A>G	rs397508229	0.00001
NM_000492.4(CFTR):c.1630G>A (p.Gly544Ser)	rs762224063	0.00001
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys)	rs397508256	0.00001
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp)	rs397508276	0.00001
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile)	rs397508293	0.00001
NM_000492.4(CFTR):c.1826A>G (p.His609Arg)	rs397508310	0.00001
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter)	rs374946172	0.00001
NM_000492.4(CFTR):c.2490+2T>C	rs1057516216	0.00001
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs)	rs1057517068	0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp)	rs386134230	0.00001
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter)	rs397508461	0.00001
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala)	rs397508462	0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)	rs397508464	0.00001
NM_000492.4(CFTR):c.2T>C (p.Met1Thr)	rs397508476	0.00001
NM_000492.4(CFTR):c.3139+8A>G	rs193922517	0.00001
NM_000492.4(CFTR):c.3139_3139+1del	rs397508505	0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)	rs186045772	0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)	rs397508600	0.00001
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu)	rs397508607	0.00001
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His)	rs121909015	0.00001
NM_000492.4(CFTR):c.3874-14C>G	rs184271150	0.00001
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr)	rs200955612	0.00001
NM_000492.4(CFTR):c.4242+1G>T	rs372227120	0.00001
NM_000492.4(CFTR):c.4243-2A>G	rs397508705	0.00001
NM_000492.4(CFTR):c.4252del (p.Glu1418fs)	rs1554397750	0.00001
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter)	rs397508759	0.00001
NM_000492.4(CFTR):c.579+34A>G	rs148209839	0.00001
NM_000492.4(CFTR):c.595C>T (p.His199Tyr)	rs121908802	0.00001
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser)	rs121908803	0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)	rs397508783	0.00001
NM_000492.4(CFTR):c.744-6T>G	rs878854022	0.00001
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter)	rs193922532	0.00001
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr)	rs397508804	0.00001
NM_000492.4(CFTR):c.869+25A>G	rs1554380840	0.00001
NM_000492.4(CFTR):c.869+5G>A	rs533959068	0.00001
NM_000492.4(CFTR):c.870-2A>G	rs1290078234	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_000497.4(CYP11B1):c.1145T>G (p.Leu382Arg)	rs1412048304	0.00001
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter)	rs267606755	0.00001
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp)	rs779103938	0.00001
NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile)	rs1489638195	0.00001
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln)	rs267601810	0.00001
NM_000497.4(CYP11B1):c.427C>T (p.Arg143Trp)	rs140336749	0.00001
NM_000497.4(CYP11B1):c.595+1G>A	rs1264073726	0.00001
NM_000497.4(CYP11B1):c.896T>C (p.Leu299Pro)	rs387907573	0.00001
NM_000497.4(CYP11B1):c.917C>T (p.Ala306Val)	rs387907572	0.00001
NM_000518.5(HBB):c.*111A>G	rs63751128	0.00001
NM_000518.5(HBB):c.114G>A (p.Trp38Ter)	rs33974936	0.00001
NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn)	rs759157781	0.00001
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter)	rs121907963	0.00001
NM_000520.6(HEXA):c.1351C>G (p.Leu451Val)	rs28940871	0.00001
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn)	rs750727201	0.00001
NM_000520.6(HEXA):c.139C>T (p.Gln47Ter)	rs745996955	0.00001
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys)	rs121907952	0.00001
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys)	rs121907966	0.00001
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)	rs28942071	0.00001
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter)	rs759092928	0.00001
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter)	rs769035623	0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr)	rs786204721	0.00001
NM_000520.6(HEXA):c.346+1G>C	rs797044432	0.00001
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln)	rs121907957	0.00001
NM_000520.6(HEXA):c.535C>T (p.His179Tyr)	rs781493030	0.00001
NM_000520.6(HEXA):c.607T>G (p.Trp203Gly)	rs1002712424	0.00001
NM_000520.6(HEXA):c.72G>A (p.Trp24Ter)	rs1555475519	0.00001
NM_000520.6(HEXA):c.82C>T (p.Gln28Ter)	rs751393950	0.00001
NM_000521.4(HEXB):c.1242G>A (p.Lys414=)	rs1309123671	0.00001
NM_000521.4(HEXB):c.1243-2A>G	rs398123446	0.00001
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser)	rs762892362	0.00001
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter)	rs1554034452	0.00001
NM_000521.4(HEXB):c.1509-26G>A	rs201580118	0.00001
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)	rs121907983	0.00001
NM_000521.4(HEXB):c.1615C>T (p.Arg539Cys)	rs749646826	0.00001
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro)	rs938611392	0.00001
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter)	rs753823903	0.00001
NM_000521.4(HEXB):c.512-3C>A	rs1376742145	0.00001
NM_000521.4(HEXB):c.558+5G>A	rs892920643	0.00001
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp)	rs373979283	0.00001
NM_000521.4(HEXB):c.965del (p.Ile322fs)	rs768438206	0.00001
NM_000528.4(MAN2B1):c.1309+1G>T	rs1057516745	0.00001
NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs)	rs748872992	0.00001
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter)	rs1057516927	0.00001
NM_000528.4(MAN2B1):c.1_2del (p.Met1fs)	rs1290585382	0.00001
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp)	rs864621994	0.00001
NM_000528.4(MAN2B1):c.2436+2T>C	rs398123457	0.00001
NM_000528.4(MAN2B1):c.422del (p.Asp141fs)	rs778399351	0.00001
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn)	rs772108001	0.00001
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp)	rs763257568	0.00001
NM_000532.5(PCCB):c.1199-8A>G	rs886058019	0.00001
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val)	rs751538672	0.00001
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys)	rs769521436	0.00001
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter)	rs753981900	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.563G>C (p.Gly188Ala)	rs796052024	0.00001
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)	rs572246667	0.00001
NM_000535.7(PMS2):c.2174+1G>A	rs267608172	0.00001
NM_000535.7(PMS2):c.251-2A>T	rs587779340	0.00001
NM_000535.7(PMS2):c.2T>C (p.Met1Thr)	rs587780059	0.00001
NM_000535.7(PMS2):c.538-2A>G	rs758304323	0.00001
NM_000535.7(PMS2):c.598G>A (p.Val200Ile)	rs587778620	0.00001
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter)	rs1458321358	0.00001
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly)	rs587782852	0.00001
NM_000543.5(SMPD1):c.1341-1G>A	rs1057516854	0.00001
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe)	rs200652683	0.00001
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg)	rs1554935669	0.00001
NM_000543.5(SMPD1):c.1801G>A (p.Ala601Thr)	rs750433951	0.00001
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His)	rs370129081	0.00001
NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter)	rs868423827	0.00001
NM_000543.5(SMPD1):c.56del (p.Gln19fs)	rs1554933746	0.00001
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro)	rs764317969	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.757G>C (p.Asp253His)	rs398123479	0.00001
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp)	rs779927660	0.00001
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)	rs730882028	0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His)	rs121912664	0.00001
NM_000546.6(TP53):c.1023C>T (p.Phe341=)	rs864622369	0.00001
NM_000546.6(TP53):c.1060C>A (p.Gln354Lys)	rs755394212	0.00001
NM_000546.6(TP53):c.1136G>A (p.Arg379His)	rs863224682	0.00001
NM_000546.6(TP53):c.1151T>C (p.Met384Thr)	rs1060501196	0.00001
NM_000546.6(TP53):c.149T>C (p.Ile50Thr)	rs370502517	0.00001
NM_000546.6(TP53):c.188C>T (p.Ala63Val)	rs372201428	0.00001
NM_000546.6(TP53):c.222C>T (p.Ala74=)	rs786201577	0.00001
NM_000546.6(TP53):c.250G>A (p.Ala84Thr)	rs587781307	0.00001
NM_000546.6(TP53):c.30C>T (p.Val10=)	rs568171603	0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met)	rs786201057	0.00001
NM_000546.6(TP53):c.408A>G (p.Gln136=)	rs758781593	0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His)	rs587782144	0.00001
NM_000546.6(TP53):c.535C>T (p.His179Tyr)	rs587780070	0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His)	rs397514495	0.00001
NM_000546.6(TP53):c.566C>T (p.Ala189Val)	rs121912665	0.00001
NM_000546.6(TP53):c.572C>G (p.Pro191Arg)	rs587778718	0.00001
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp)	rs1057520008	0.00001
NM_000546.6(TP53):c.642T>G (p.His214Gln)	rs587781386	0.00001
NM_000546.6(TP53):c.74+9A>C	rs1057517593	0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	rs28934574	0.00001
NM_000546.6(TP53):c.877G>T (p.Gly293Trp)	rs587780076	0.00001
NM_000546.6(TP53):c.885T>C (p.Pro295=)	rs200073907	0.00001
NM_000551.4(VHL):c.172C>T (p.Arg58Trp)	rs757781272	0.00001
NM_000551.4(VHL):c.1A>T (p.Met1Leu)	rs1060503557	0.00001
NM_000551.4(VHL):c.258C>G (p.Pro86=)	rs781063331	0.00001
NM_000551.4(VHL):c.544A>G (p.Arg182Gly)	rs778205243	0.00001
NM_000642.3(AGL):c.100C>T (p.Arg34Ter)	rs781580050	0.00001
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp)	rs1131691438	0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)	rs763554006	0.00001
NM_000642.3(AGL):c.22C>T (p.Arg8Ter)	rs1057516870	0.00001
NM_000642.3(AGL):c.22del (p.Arg8fs)	rs1215043175	0.00001
NM_000642.3(AGL):c.2309-1G>A	rs786204481	0.00001
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg)	rs772347559	0.00001
NM_000642.3(AGL):c.289C>T (p.Gln97Ter)	rs1553183220	0.00001
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)	rs531425980	0.00001
NM_000642.3(AGL):c.3350dup (p.Tyr1117Ter)	rs1432024176	0.00001
NM_000642.3(AGL):c.3554del (p.Thr1185fs)	rs764318570	0.00001
NM_000642.3(AGL):c.664+3A>G	rs370792293	0.00001
NM_000642.3(AGL):c.94C>T (p.Gln32Ter)	rs786204489	0.00001
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys)	rs182923857	0.00001
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His)	rs398123486	0.00001
NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter)	rs765543886	0.00001
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)	rs398123490	0.00001
NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter)	rs374625613	0.00001
NM_000709.4(BCKDHA):c.475C>T (p.Arg159Trp)	rs769688327	0.00001
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met)	rs398123503	0.00001
NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr)	rs199599175	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.1214G>A (p.Arg405Gln)	rs121908099	0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)	rs121908098	0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)	rs560108684	0.00001
NM_000784.4(CYP27A1):c.1A>G (p.Met1Val)	rs1446633660	0.00001
NM_000784.4(CYP27A1):c.256-1G>T	rs886556800	0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)	rs72551312	0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)	rs587778796	0.00001
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter)	rs72551316	0.00001
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg)	rs72551317	0.00001
NM_001008216.2(GALE):c.280G>A (p.Val94Met)	rs121908047	0.00001
NM_001039958.2(MESP2):c.921C>G (p.Tyr307Ter)	rs766664800	0.00001
NM_001040716.2(PC):c.467G>A (p.Arg156Gln)	rs119103241	0.00001
NM_001040716.2(PC):c.806G>A (p.Arg269Gln)	rs1349343839	0.00001
NM_001042432.2(CLN3):c.1198-1G>T	rs386833702	0.00001
NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu)	rs796052338	0.00001
NM_001042432.2(CLN3):c.837+5G>A	rs756848924	0.00001
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs)	rs587780086	0.00001
NM_001048174.2(MUTYH):c.164C>G (p.Ser55Ter)	rs370124822	0.00001
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter)	rs748170941	0.00001
NM_001048174.2(MUTYH):c.268G>T (p.Glu90Ter)	rs1553129892	0.00001
NM_001048174.2(MUTYH):c.305-7C>A	rs863224698	0.00001
NM_001048174.2(MUTYH):c.43C>T (p.Gln15Ter)	rs768386527	0.00001
NM_001048174.2(MUTYH):c.493-5A>G	rs758377868	0.00001
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)	rs34126013	0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu)	rs374950566	0.00001
NM_001048174.2(MUTYH):c.887C>T (p.Ser296Leu)	rs558173961	0.00001
NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter)	rs779331797	0.00001
NM_001127511.3(APC):c.122C>T (p.Pro41Leu)	rs1057517584	0.00001
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter)	rs794727279	0.00001
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro)	rs768546511	0.00001
NM_001130987.2(DYSF):c.1276+5G>A	rs766433603	0.00001
NM_001130987.2(DYSF):c.1693-6T>A	rs886039573	0.00001
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp)	rs377735262	0.00001
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)	rs201049092	0.00001
NM_001130987.2(DYSF):c.2217-2A>G	rs747289205	0.00001
NM_001130987.2(DYSF):c.2409+1G>A	rs151317754	0.00001
NM_001130987.2(DYSF):c.2864+1G>A	rs199954546	0.00001
NM_001130987.2(DYSF):c.2864+5G>A	rs886044131	0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)	rs150877497	0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs)	rs398123782	0.00001
NM_001130987.2(DYSF):c.4282C>T (p.Gln1428Ter)	rs769721856	0.00001
NM_001130987.2(DYSF):c.460+1G>A	rs1278864604	0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)	rs746243052	0.00001
NM_001130987.2(DYSF):c.5557C>T (p.Arg1853Cys)	rs1280185461	0.00001
NM_001130987.2(DYSF):c.5785-7G>A	rs753861836	0.00001
NM_001130987.2(DYSF):c.5885-1G>C	rs771257070	0.00001
NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr)	rs746663568	0.00001
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)	rs398123802	0.00001
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg)	rs121908963	0.00001
NM_001164277.2(SLC37A4):c.1125-14T>C	rs1555190405	0.00001
NM_001164277.2(SLC37A4):c.1125-6T>C	rs782323567	0.00001
NM_001164277.2(SLC37A4):c.149-7C>T	rs1316874319	0.00001
NM_001164277.2(SLC37A4):c.1A>G (p.Met1Val)	rs786204740	0.00001
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter)	rs121908976	0.00001
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu)	rs193302888	0.00001
NM_001164277.2(SLC37A4):c.625G>C (p.Gly209Arg)	rs1272300904	0.00001
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter)	rs551439289	0.00001
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys)	rs193302889	0.00001
NM_001164277.2(SLC37A4):c.833T>A (p.Ile278Asn)	rs193302900	0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)	rs121908978	0.00001
NM_001164277.2(SLC37A4):c.871+5G>A	rs1250046397	0.00001
NM_001164277.2(SLC37A4):c.872-11T>C	rs1265857875	0.00001
NM_001164277.2(SLC37A4):c.872-15_872-9dup	rs782321213	0.00001
NM_001164277.2(SLC37A4):c.872-6C>G	rs781985446	0.00001
NM_001164277.2(SLC37A4):c.986-8C>T	rs782425309	0.00001
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter)	rs928945364	0.00001
NM_001164508.2(NEB):c.1152+1G>A	rs398124167	0.00001
NM_001164508.2(NEB):c.11954A>G (p.Tyr3985Cys)	rs745504838	0.00001
NM_001164508.2(NEB):c.1470+1G>A	rs1220787593	0.00001
NM_001164508.2(NEB):c.1674+1G>T	rs750585238	0.00001
NM_001164508.2(NEB):c.18865C>T (p.Arg6289Ter)	rs539819851	0.00001
NM_001164508.2(NEB):c.18891+1G>A	rs1443738549	0.00001
NM_001164508.2(NEB):c.19101+5G>A	rs374929094	0.00001
NM_001164508.2(NEB):c.19405C>T (p.Arg6469Ter)	rs1553740233	0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)	rs201553266	0.00001
NM_001164508.2(NEB):c.2211+5G>T	rs797045736	0.00001
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter)	rs760935667	0.00001
NM_001164508.2(NEB):c.24207G>A (p.Ser8069=)	rs763193315	0.00001
NM_001164508.2(NEB):c.24208_24212dup (p.Tyr8072fs)	rs1553552413	0.00001
NM_001164508.2(NEB):c.24212T>A (p.Leu8071Ter)	rs756726488	0.00001
NM_001164508.2(NEB):c.24220G>T (p.Glu8074Ter)	rs1218073575	0.00001
NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs)	rs1257495033	0.00001
NM_001164508.2(NEB):c.24509G>A (p.Gly8170Glu)	rs398124169	0.00001
NM_001164508.2(NEB):c.2784del (p.Asp929fs)	rs786204430	0.00001
NM_001164508.2(NEB):c.2920C>T (p.Arg974Ter)	rs1553548666	0.00001
NM_001164508.2(NEB):c.294+2T>C	rs773952935	0.00001
NM_001164508.2(NEB):c.2943+1G>A	rs113091511	0.00001
NM_001164508.2(NEB):c.37-1G>A	rs1428597732	0.00001
NM_001164508.2(NEB):c.3879+1G>A	rs746999970	0.00001
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter)	rs1057517360	0.00001
NM_001164508.2(NEB):c.4664G>A (p.Arg1555Lys)	rs183333679	0.00001
NM_001164508.2(NEB):c.5763+5G>A	rs776167256	0.00001
NM_001164508.2(NEB):c.6076-1G>T	rs1553469502	0.00001
NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter)	rs756363951	0.00001
NM_001164508.2(NEB):c.7228-1G>A	rs1057516996	0.00001
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs)	rs398124172	0.00001
NM_001164508.2(NEB):c.9414+1G>T	rs1255445731	0.00001
NM_001283009.2(RTEL1):c.458_459del (p.Gln153fs)	rs773025155	0.00001
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)	rs28934602	0.00001
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)	rs119103227	0.00001
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser)	rs1261821166	0.00001
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)	rs119103229	0.00001
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)	rs119103231	0.00001
NM_001352514.2(HLCS):c.2519G>C (p.Gly840Ala)	rs764148793	0.00001
NM_001360.3(DHCR7):c.1022T>C (p.Leu341Pro)	rs1317526744	0.00001
NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg)	rs373306653	0.00001
NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr)	rs779709646	0.00001
NM_001360.3(DHCR7):c.1146C>A (p.Tyr382Ter)	rs1555145605	0.00001
NM_001360.3(DHCR7):c.1222T>C (p.Tyr408His)	rs1046560765	0.00001
NM_001360.3(DHCR7):c.1277A>C (p.His426Pro)	rs1354718634	0.00001
NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys)	rs535561852	0.00001
NM_001360.3(DHCR7):c.1396G>A (p.Val466Met)	rs760428437	0.00001
NM_001360.3(DHCR7):c.326T>C (p.Leu109Pro)	rs121912195	0.00001
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro)	rs753960624	0.00001
NM_001360.3(DHCR7):c.521T>C (p.Phe174Ser)	rs769218623	0.00001
NM_001360.3(DHCR7):c.523G>A (p.Asp175Asn)	rs368269558	0.00001
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp)	rs779896782	0.00001
NM_001360.3(DHCR7):c.670G>A (p.Glu224Lys)	rs373121544	0.00001
NM_001360.3(DHCR7):c.728C>G (p.Pro243Arg)	rs777248132	0.00001
NM_001360.3(DHCR7):c.82C>T (p.Gln28Ter)	rs756564881	0.00001
NM_001360.3(DHCR7):c.831+2T>A	rs1057516920	0.00001
NM_001360.3(DHCR7):c.841G>A (p.Val281Met)	rs398123607	0.00001
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile)	rs121909765	0.00001
NM_001360.3(DHCR7):c.870G>A (p.Trp290Ter)	rs774187452	0.00001
NM_001365088.1(SLC12A6):c.2043-2A>G	rs1372841592	0.00001
NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter)	rs1057516262	0.00001
NM_001370658.1(BTD):c.1399del (p.Trp467fs)	rs397514423	0.00001
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)	rs104893687	0.00001
NM_001370658.1(BTD):c.176G>A (p.Arg59His)	rs397514343	0.00001
NM_001370658.1(BTD):c.250-15del	rs587783008	0.00001
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)	rs375712490	0.00001
NM_001370658.1(BTD):c.360G>A (p.Trp120Ter)	rs1306944669	0.00001
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)	rs397514363	0.00001
NM_001370658.1(BTD):c.425C>T (p.Ala142Val)	rs397514364	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.674G>A (p.Cys225Tyr)	rs397507175	0.00001
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)	rs397514382	0.00001
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)	rs397514383	0.00001
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)	rs397514384	0.00001
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp)	rs377651057	0.00001
NM_001370658.1(BTD):c.941_942del (p.Ile314fs)	rs749162799	0.00001
NM_001378454.1(ALMS1):c.10079-10G>A	rs778996015	0.00001
NM_001378454.1(ALMS1):c.10214-5C>T	rs751591632	0.00001
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly)	rs746702722	0.00001
NM_001378454.1(ALMS1):c.10467C>T (p.His3489=)	rs371631738	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.11667del (p.Gly3890fs)	rs1553421496	0.00001
NM_001378454.1(ALMS1):c.11668+17A>G	rs201109126	0.00001
NM_001378454.1(ALMS1):c.11669-12C>T	rs774970704	0.00001
NM_001378454.1(ALMS1):c.11669-1G>A	rs750737346	0.00001
NM_001378454.1(ALMS1):c.11873-11G>A	rs571456553	0.00001
NM_001378454.1(ALMS1):c.12299-6G>A	rs771317399	0.00001
NM_001378454.1(ALMS1):c.12463-14C>G	rs766656843	0.00001
NM_001378454.1(ALMS1):c.1339-12G>T	rs1260375872	0.00001
NM_001378454.1(ALMS1):c.161T>A (p.Leu54Ter)	rs755760721	0.00001
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs)	rs777476179	0.00001
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter)	rs750326619	0.00001
NM_001378454.1(ALMS1):c.325-6T>C	rs760582213	0.00001
NM_001378454.1(ALMS1):c.3687_3688del (p.Gly1230fs)	rs1296683633	0.00001
NM_001378454.1(ALMS1):c.4347dup (p.Glu1450Ter)	rs778728424	0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter)	rs772136379	0.00001
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter)	rs989080548	0.00001
NM_001378454.1(ALMS1):c.753_754insA (p.Ala252fs)	rs748892226	0.00001
NM_001378454.1(ALMS1):c.9753A>G (p.Gln3251=)	rs1553412793	0.00001
NM_001378454.1(ALMS1):c.9782-13T>G	rs530508947	0.00001
NM_001378454.1(ALMS1):c.9897dup (p.Ser3300fs)	rs754702823	0.00001
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter)	rs370261904	0.00001
NM_001384140.1(PCDH15):c.158-2A>T	rs1304228309	0.00001
NM_001384140.1(PCDH15):c.2419dup (p.Ile807fs)	rs781148814	0.00001
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter)	rs1057516342	0.00001
NM_001384140.1(PCDH15):c.3717+2dup	rs1248401224	0.00001
NM_001384140.1(PCDH15):c.3983+1G>T	rs758921360	0.00001
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter)	rs137853003	0.00001
NM_001384140.1(PCDH15):c.4211+2T>G	rs753832779	0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)	rs137853001	0.00001
NM_001673.5(ASNS):c.1648C>T (p.Arg550Cys)	rs398122974	0.00001
NM_001692.4(ATP6V1B1):c.1248+1G>C	rs1553420702	0.00001
NM_001875.5(CPS1):c.1837-8A>G	rs1290474919	0.00001
NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp)	rs772782772	0.00001
NM_001875.5(CPS1):c.2732G>A (p.Gly911Glu)	rs1388955593	0.00001
NM_001875.5(CPS1):c.2738C>T (p.Ser913Leu)	rs754706559	0.00001
NM_001875.5(CPS1):c.2740G>C (p.Asp914His)	rs765484849	0.00001
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs)	rs1318756445	0.00001
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val)	rs121912595	0.00001
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln)	rs778117194	0.00001
NM_001875.5(CPS1):c.712C>T (p.Arg238Ter)	rs761225695	0.00001
NM_001875.5(CPS1):c.902G>A (p.Gly301Glu)	rs973321068	0.00001
NM_001876.4(CPT1A):c.1393G>A (p.Gly465Arg)	rs80356784	0.00001
NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu)	rs80356780	0.00001
NM_001876.4(CPT1A):c.727C>T (p.Arg243Ter)	rs779893091	0.00001
NM_001918.5(DBT):c.1017G>A (p.Lys339=)	rs1490661508	0.00001
NM_001918.5(DBT):c.1195T>G (p.Ser399Ala)	rs1553229654	0.00001
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr)	rs1449113689	0.00001
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter)	rs398123660	0.00001
NM_001918.5(DBT):c.1400G>A (p.Trp467Ter)	rs767760099	0.00001
NM_001953.5(TYMP):c.1300+1G>A	rs1064792878	0.00001
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)	rs1477527791	0.00001
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys)	rs773560012	0.00001
NM_002225.5(IVD):c.149G>A (p.Arg50His)	rs2229311	0.00001
NM_002225.5(IVD):c.232C>T (p.Arg78Ter)	rs765815516	0.00001
NM_002225.5(IVD):c.381del (p.Ala128fs)	rs769048174	0.00001
NM_002225.5(IVD):c.397_398del (p.Cys133fs)	rs398123682	0.00001
NM_002225.5(IVD):c.456+2T>C	rs398123683	0.00001
NM_002225.5(IVD):c.457-2A>G	rs771914739	0.00001
NM_002225.5(IVD):c.498del (p.Glu166fs)	rs398123684	0.00001
NM_002225.5(IVD):c.890C>T (p.Ala297Val)	rs796051983	0.00001
NM_002435.3(MPI):c.13C>T (p.Arg5Ter)	rs1452559752	0.00001
NM_002435.3(MPI):c.488-1G>C	rs759579169	0.00001
NM_002435.3(MPI):c.652A>T (p.Lys218Ter)	rs1057516424	0.00001
NM_002485.5(NBN):c.11del (p.Leu4fs)	rs1064793210	0.00001
NM_002485.5(NBN):c.1465C>G (p.Leu489Val)	rs143948240	0.00001
NM_002485.5(NBN):c.171+4T>C	rs587782290	0.00001
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter)	rs786201745	0.00001
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)	rs730881857	0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)	rs730881864	0.00001
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)	rs1057516320	0.00001
NM_002485.5(NBN):c.38-7A>G	rs863224392	0.00001
NM_002529.4(NTRK1):c.2281C>T (p.Arg761Trp)	rs759637817	0.00001
NM_002691.4(POLD1):c.1776-19G>A	rs772329761	0.00001
NM_002691.4(POLD1):c.2154+4G>A	rs373416476	0.00001
NM_002691.4(POLD1):c.2565-13C>T	rs559638270	0.00001
NM_002691.4(POLD1):c.583C>T (p.Arg195Ter)	rs377690809	0.00001
NM_002878.4(RAD51D):c.649G>T (p.Gly217Ter)	rs775365939	0.00001
NM_002878.4(RAD51D):c.655C>T (p.Gln219Ter)	rs771007945	0.00001
NM_002878.4(RAD51D):c.739-3C>T	rs1235042092	0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)	rs772551056	0.00001
NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val)	rs746187344	0.00001
NM_003060.4(SLC22A5):c.1250dup (p.Met417fs)	rs781330134	0.00001
NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys)	rs386134218	0.00001
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys)	rs72552734	0.00001
NM_003060.4(SLC22A5):c.148del (p.Cys50fs)	rs386134227	0.00001
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)	rs727504159	0.00001
NM_003060.4(SLC22A5):c.394-16T>A	rs775097754	0.00001
NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter)	rs72552727	0.00001
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu)	rs1178584184	0.00001
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp)	rs267607052	0.00001
NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro)	rs386134197	0.00001
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro)	rs72552723	0.00001
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys)	rs121908888	0.00001
NM_003060.4(SLC22A5):c.71del (p.Leu24fs)	rs775502377	0.00001
NM_003060.4(SLC22A5):c.806del (p.Leu269fs)	rs386134204	0.00001
NM_003060.4(SLC22A5):c.825-1G>C	rs1057516805	0.00001
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter)	rs386134212	0.00001
NM_003640.5(ELP1):c.2370A>G (p.Glu790=)	rs772114554	0.00001
NM_003640.5(ELP1):c.2598C>T (p.Pro866=)	rs773218149	0.00001
NM_003640.5(ELP1):c.3931+14C>G	rs555520875	0.00001
NM_004004.6(GJB2):c.-22-1G>A	rs551625098	0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)	rs104894413	0.00001
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg)	rs1326514987	0.00001
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter)	rs111033451	0.00001
NM_004004.6(GJB2):c.246C>G (p.Ile82Met)	rs781534323	0.00001
NM_004004.6(GJB2):c.31_68del (p.Gly11fs)	rs397516873	0.00001
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg)	rs80338946	0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)	rs111033295	0.00001
NM_004004.6(GJB2):c.408C>A (p.Tyr136Ter)	rs786204690	0.00001
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)	rs104894401	0.00001
NM_004004.6(GJB2):c.514T>A (p.Trp172Arg)	rs770330002	0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val)	rs532203068	0.00001
NM_004004.6(GJB2):c.598G>T (p.Gly200Ter)	rs786204597	0.00001
NM_004004.6(GJB2):c.60T>G (p.Ile20Met)	rs749693224	0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)	rs200397144	0.00001
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln)	rs752360961	0.00001
NM_004329.3(BMPR1A):c.676-3A>C	rs587782760	0.00001
NM_004329.3(BMPR1A):c.713G>A (p.Arg238Gln)	rs191742018	0.00001
NM_004360.5(CDH1):c.1009-14C>T	rs368293695	0.00001
NM_004360.5(CDH1):c.1136C>T (p.Thr379Met)	rs587782856	0.00001
NM_004360.5(CDH1):c.1162G>A (p.Glu388Lys)	rs372838203	0.00001
NM_004360.5(CDH1):c.1266A>G (p.Gln422=)	rs776805501	0.00001
NM_004360.5(CDH1):c.1416C>T (p.Thr472=)	rs139937234	0.00001
NM_004360.5(CDH1):c.1500C>T (p.Gly500=)	rs781317341	0.00001
NM_004360.5(CDH1):c.1565C>T (p.Thr522Ile)	rs863224725	0.00001
NM_004360.5(CDH1):c.2026G>A (p.Asp676Asn)	rs115408226	0.00001
NM_004360.5(CDH1):c.2194C>T (p.Arg732Trp)	rs864622198	0.00001
NM_004360.5(CDH1):c.2318A>G (p.His773Arg)	rs587782823	0.00001
NM_004360.5(CDH1):c.286A>G (p.Ile96Val)	rs749306433	0.00001
NM_004360.5(CDH1):c.370C>T (p.Arg124Cys)	rs748086082	0.00001
NM_004360.5(CDH1):c.582C>T (p.Gly194=)	rs786202924	0.00001
NM_004360.5(CDH1):c.867G>A (p.Ala289=)	rs754143182	0.00001
NM_004628.5(XPC):c.1A>G (p.Met1Val)	rs763678756	0.00001
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro)	rs386833863	0.00001
NM_004646.4(NPHS1):c.1170+7C>T	rs906888001	0.00001
NM_004646.4(NPHS1):c.2071+2T>C	rs386833901	0.00001
NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp)	rs386833912	0.00001
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter)	rs386833920	0.00001
NM_004646.4(NPHS1):c.2815+3A>G	rs1223946044	0.00001
NM_004646.4(NPHS1):c.532C>T (p.Gln178Ter)	rs386833951	0.00001
NM_004646.4(NPHS1):c.534del (p.Thr179fs)	rs386833952	0.00001
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)	rs267606754	0.00001
NM_005359.6(SMAD4):c.1046C>T (p.Thr349Ile)	rs564408927	0.00001
NM_005359.6(SMAD4):c.449G>A (p.Ser150Asn)	rs750355699	0.00001
NM_005359.6(SMAD4):c.535A>G (p.Ile179Val)	rs542392980	0.00001
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu)	rs587780793	0.00001
NM_005359.6(SMAD4):c.743A>T (p.Gln248Leu)	rs751985298	0.00001
NM_005476.7(GNE):c.1523T>C (p.Leu508Ser)	rs1057516798	0.00001
NM_005476.7(GNE):c.1525C>T (p.His509Tyr)	rs754892377	0.00001
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg)	rs762009737	0.00001
NM_005476.7(GNE):c.175C>T (p.Arg59Ter)	rs745517517	0.00001
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe)	rs372732220	0.00001
NM_005476.7(GNE):c.301C>T (p.Arg101Cys)	rs148523065	0.00001
NM_005476.7(GNE):c.4G>T (p.Glu2Ter)	rs886044514	0.00001
NM_005476.7(GNE):c.529C>T (p.Arg177Cys)	rs539332585	0.00001
NM_005476.7(GNE):c.612G>A (p.Trp204Ter)	rs786204476	0.00001
NM_005476.7(GNE):c.722T>G (p.Ile241Ser)	rs759945787	0.00001
NM_005476.7(GNE):c.736C>T (p.Arg246Trp)	rs773729410	0.00001
NM_005591.4(MRE11):c.659+1G>A	rs759130031	0.00001
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu)	rs773204705	0.00001
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu)	rs756251887	0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)	rs119103255	0.00001
NM_005609.4(PYGM):c.1768+2T>G	rs747513238	0.00001
NM_005609.4(PYGM):c.1827G>A (p.Lys609=)	rs119103259	0.00001
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro)	rs776680924	0.00001
NM_005609.4(PYGM):c.475G>A (p.Gly159Arg)	rs760654579	0.00001
NM_005609.4(PYGM):c.78_79del (p.Glu27fs)	rs755117847	0.00001
NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter)	rs1247689593	0.00001
NM_006019.4(TCIRG1):c.-5+1G>T	rs917505107	0.00001
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter)	rs777785526	0.00001
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser)	rs200851583	0.00001
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter)	rs1338631330	0.00001
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter)	rs749361897	0.00001
NM_006231.4(POLE):c.1360-20C>G	rs781212006	0.00001
NM_006231.4(POLE):c.1420G>A (p.Val474Ile)	rs980578884	0.00001
NM_006231.4(POLE):c.2612G>C (p.Ser871Thr)	rs770470552	0.00001
NM_006231.4(POLE):c.5379-5T>C	rs761910924	0.00001
NM_006231.4(POLE):c.941C>G (p.Ser314Ter)	rs869312803	0.00001
NM_006261.5(PROP1):c.334C>T (p.Arg112Ter)	rs766673446	0.00001
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys)	rs786205211	0.00001
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter)	rs386833971	0.00001
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys)	rs148862100	0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys)	rs201206424	0.00001
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His)	rs730881688	0.00001
NM_007194.4(CHEK2):c.1096-4T>C	rs587782840	0.00001
NM_007194.4(CHEK2):c.1260-8A>G	rs863224747	0.00001
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=)	rs758102180	0.00001
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val)	rs17882942	0.00001
NM_007194.4(CHEK2):c.1590C>T (p.Ala530=)	rs786201796	0.00001
NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter)	rs1555932341	0.00001
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr)	rs786203192	0.00001
NM_007194.4(CHEK2):c.444+3A>G	rs587781279	0.00001
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe)	rs745646057	0.00001
NM_007194.4(CHEK2):c.573G>C (p.Leu191=)	rs786201267	0.00001
NM_007194.4(CHEK2):c.592+3A>T	rs587782849	0.00001
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter)	rs761494650	0.00001
NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn)	rs56056711	0.00001
NM_007294.4(BRCA1):c.133A>C (p.Lys45Gln)	rs769650474	0.00001
NM_007294.4(BRCA1):c.134A>C (p.Lys45Thr)	rs80356863	0.00001
NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln)	rs199540030	0.00001
NM_007294.4(BRCA1):c.1401G>A (p.Lys467=)	rs786201323	0.00001
NM_007294.4(BRCA1):c.1508A>G (p.Lys503Arg)	rs62625304	0.00001
NM_007294.4(BRCA1):c.1609A>G (p.Asn537Asp)	rs398122639	0.00001
NM_007294.4(BRCA1):c.1797T>C (p.Asn599=)	rs756211343	0.00001
NM_007294.4(BRCA1):c.1897C>T (p.Pro633Ser)	rs80356902	0.00001
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly)	rs80357064	0.00001
NM_007294.4(BRCA1):c.230C>T (p.Thr77Met)	rs80357209	0.00001
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val)	rs80356948	0.00001
NM_007294.4(BRCA1):c.2393C>T (p.Pro798Leu)	rs876660005	0.00001
NM_007294.4(BRCA1):c.2613G>A (p.Pro871=)	rs587782608	0.00001
NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs)	rs80357717	0.00001
NM_007294.4(BRCA1):c.2758G>A (p.Val920Ile)	rs80357361	0.00001
NM_007294.4(BRCA1):c.2910A>C (p.Lys970Asn)	rs431825394	0.00001
NM_007294.4(BRCA1):c.2931A>G (p.Pro977=)	rs273899691	0.00001
NM_007294.4(BRCA1):c.301+10G>A	rs80358001	0.00001
NM_007294.4(BRCA1):c.3055A>G (p.Ile1019Val)	rs80357311	0.00001
NM_007294.4(BRCA1):c.3797G>C (p.Ser1266Thr)	rs80357160	0.00001
NM_007294.4(BRCA1):c.3845A>T (p.Glu1282Val)	rs80357217	0.00001
NM_007294.4(BRCA1):c.3848A>G (p.His1283Arg)	rs80357047	0.00001
NM_007294.4(BRCA1):c.3944C>G (p.Pro1315Arg)	rs80357500	0.00001
NM_007294.4(BRCA1):c.397C>T (p.Arg133Cys)	rs80357457	0.00001
NM_007294.4(BRCA1):c.4073A>G (p.Glu1358Gly)	rs397507225	0.00001
NM_007294.4(BRCA1):c.4081A>C (p.Met1361Leu)	rs80357218	0.00001
NM_007294.4(BRCA1):c.4096+1G>A	rs80358178	0.00001
NM_007294.4(BRCA1):c.4097-10G>A	rs80358057	0.00001
NM_007294.4(BRCA1):c.4127C>G (p.Thr1376Arg)	rs80356986	0.00001
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn)	rs78951648	0.00001
NM_007294.4(BRCA1):c.4185+9C>T	rs80358034	0.00001
NM_007294.4(BRCA1):c.4186-19C>T	rs80358016	0.00001
NM_007294.4(BRCA1):c.4204C>T (p.His1402Tyr)	rs80357365	0.00001
NM_007294.4(BRCA1):c.4213A>G (p.Ile1405Val)	rs80357353	0.00001
NM_007294.4(BRCA1):c.4342A>G (p.Ser1448Gly)	rs80357486	0.00001
NM_007294.4(BRCA1):c.4347A>G (p.Thr1449=)	rs80356840	0.00001
NM_007294.4(BRCA1):c.442-1G>T	rs1351019392	0.00001
NM_007294.4(BRCA1):c.4485-8C>T	rs397507234	0.00001
NM_007294.4(BRCA1):c.4903G>A (p.Glu1635Lys)	rs200432771	0.00001
NM_007294.4(BRCA1):c.4985T>C (p.Phe1662Ser)	rs28897695	0.00001
NM_007294.4(BRCA1):c.4986+6T>C	rs80358086	0.00001
NM_007294.4(BRCA1):c.4988T>A (p.Met1663Lys)	rs80357205	0.00001
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=)	rs786203868	0.00001
NM_007294.4(BRCA1):c.5066T>C (p.Met1689Thr)	rs80357061	0.00001
NM_007294.4(BRCA1):c.5075-9A>T	rs80358059	0.00001
NM_007294.4(BRCA1):c.508C>T (p.Arg170Trp)	rs80357325	0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)	rs41293459	0.00001
NM_007294.4(BRCA1):c.5152+10A>G	rs80358114	0.00001
NM_007294.4(BRCA1):c.5153-13A>G	rs45471406	0.00001
NM_007294.4(BRCA1):c.5153-26A>G	rs80358109	0.00001
NM_007294.4(BRCA1):c.5186T>A (p.Leu1729Gln)	rs730881496	0.00001
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)	rs45553935	0.00001
NM_007294.4(BRCA1):c.5317A>T (p.Thr1773Ser)	rs80357324	0.00001
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg)	rs41293463	0.00001
NM_007294.4(BRCA1):c.5327C>T (p.Pro1776Leu)	rs398122695	0.00001
NM_007294.4(BRCA1):c.5332+3A>G	rs766614917	0.00001
NM_007294.4(BRCA1):c.5333A>G (p.Asp1778Gly)	rs80357041	0.00001
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr)	rs80356929	0.00001
NM_007294.4(BRCA1):c.5407-25T>A	rs758780152	0.00001
NM_007294.4(BRCA1):c.5467+1G>A	rs80358145	0.00001
NM_007294.4(BRCA1):c.548-18T>G	rs397507251	0.00001
NM_007294.4(BRCA1):c.548-3T>C	rs397507252	0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)	rs41293465	0.00001
NM_007294.4(BRCA1):c.556T>G (p.Ser186Ala)	rs397509298	0.00001
NM_007294.4(BRCA1):c.5573T>C (p.Ile1858Thr)	rs755427809	0.00001
NM_007294.4(BRCA1):c.593+9A>G	rs80358133	0.00001
NM_007294.4(BRCA1):c.80+7C>T	rs80358098	0.00001
NM_007294.4(BRCA1):c.995G>A (p.Arg332Gln)	rs80357464	0.00001
NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter)	rs180177304	0.00001
NM_012203.2(GRHPR):c.1A>G (p.Met1Val)	rs1554746094	0.00001
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys)	rs180177307	0.00001
NM_012203.2(GRHPR):c.454dup (p.Thr152fs)	rs771019056	0.00001
NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter)	rs1331106064	0.00001
NM_012434.5(SLC17A5):c.1007_1008del (p.Leu336fs)	rs386833987	0.00001
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter)	rs1057516910	0.00001
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)	rs769235753	0.00001
NM_012434.5(SLC17A5):c.1259+1G>A	rs146095590	0.00001
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)	rs1234745577	0.00001
NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs)	rs1472109408	0.00001
NM_012434.5(SLC17A5):c.819+1G>A	rs1057517028	0.00001
NM_013339.4(ALG6):c.250G>A (p.Ala84Thr)	rs762643273	0.00001
NM_013339.4(ALG6):c.495A>G (p.Gln165=)	rs886046471	0.00001
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)	rs1057517250	0.00001
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)	rs780247476	0.00001
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln)	rs281865119	0.00001
NM_014363.6(SACS):c.3066del (p.Asn1025fs)	rs1057516767	0.00001
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter)	rs867249938	0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)	rs1160357920	0.00001
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter)	rs761089024	0.00001
NM_014363.6(SACS):c.623G>T (p.Ser208Ile)	rs911764681	0.00001
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter)	rs145766983	0.00001
NM_014363.6(SACS):c.8108G>A (p.Arg2703His)	rs750181262	0.00001
NM_014363.6(SACS):c.814C>T (p.Arg272Cys)	rs374128662	0.00001
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter)	rs886041949	0.00001
NM_014625.4(NPHS2):c.503G>A (p.Arg168His)	rs530318579	0.00001
NM_014625.4(NPHS2):c.535-1G>T	rs1291398331	0.00001
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp)	rs74315348	0.00001
NM_014625.4(NPHS2):c.873+2T>A	rs967339926	0.00001
NM_014844.5(TECPR2):c.3416del (p.Leu1139fs)	rs751970061	0.00001
NM_015166.4(MLC1):c.136del (p.Cys46fs)	rs1057516766	0.00001
NM_015166.4(MLC1):c.525+1G>A	rs769135961	0.00001
NM_015166.4(MLC1):c.714+1G>A	rs761620701	0.00001
NM_015166.4(MLC1):c.839C>T (p.Ser280Leu)	rs121908341	0.00001
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro)	rs752205161	0.00001
NM_015506.3(MMACHC):c.384del (p.Tyr129fs)	rs1347498294	0.00001
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg)	rs955468279	0.00001
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)	rs538023671	0.00001
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser)	rs760705290	0.00001
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter)	rs386834018	0.00001
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)	rs386834034	0.00001
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)	rs386834039	0.00001
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)	rs773684291	0.00001
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys)	rs1451777867	0.00001
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln)	rs154774634	0.00001
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu)	rs758921701	0.00001
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter)	rs559590419	0.00001
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter)	rs765998879	0.00001
NM_017890.5(VPS13B):c.4246C>T (p.Arg1416Ter)	rs145741622	0.00001
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)	rs104894060	0.00001
NM_018941.4(CLN8):c.611G>A (p.Arg204His)	rs386834134	0.00001
NM_018941.4(CLN8):c.709G>A (p.Gly237Arg)	rs746645358	0.00001
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter)	rs764742792	0.00001
NM_019098.5(CNGB3):c.1119G>A (p.Trp373Ter)	rs786204762	0.00001
NM_019098.5(CNGB3):c.644-1G>C	rs201794629	0.00001
NM_020533.3(MCOLN1):c.681-19A>C	rs768736321	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_020975.6(RET):c.1915G>A (p.Ala639Thr)	rs777122776	0.00001
NM_020975.6(RET):c.1921G>A (p.Ala641Thr)	rs377767411	0.00001
NM_020975.6(RET):c.2070C>T (p.Ser690=)	rs201550433	0.00001
NM_020975.6(RET):c.2715C>T (p.Tyr905=)	rs755023496	0.00001
NM_020975.6(RET):c.832A>G (p.Thr278Ala)	rs541929171	0.00001
NM_024301.5(FKRP):c.544T>C (p.Tyr182His)	rs753390261	0.00001
NM_024301.5(FKRP):c.582G>A (p.Leu194=)	rs771223960	0.00001
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn)	rs104894692	0.00001
NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter)	rs281864969	0.00001
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln)	rs34159654	0.00001
NM_024312.5(GNPTAB):c.3571C>T (p.Arg1191Cys)	rs1481471124	0.00001
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter)	rs1014835928	0.00001
NM_024649.5(BBS1):c.1643dup (p.Glu549fs)	rs773632109	0.00001
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)	rs786204444	0.00001
NM_024649.5(BBS1):c.48-2A>C	rs764245266	0.00001
NM_024649.5(BBS1):c.951+1G>A	rs746875134	0.00001
NM_024675.4(PALB2):c.108+1G>A	rs1060499814	0.00001
NM_024675.4(PALB2):c.10C>T (p.Pro4Ser)	rs587782483	0.00001
NM_024675.4(PALB2):c.1123C>A (p.Leu375Ile)	rs373298267	0.00001
NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile)	rs515726063	0.00001
NM_024675.4(PALB2):c.1662A>G (p.Glu554=)	rs786202692	0.00001
NM_024675.4(PALB2):c.1685-14T>A	rs780772404	0.00001
NM_024675.4(PALB2):c.1685-7T>G	rs1555460705	0.00001
NM_024675.4(PALB2):c.195G>A (p.Pro65=)	rs751176316	0.00001
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)	rs180177083	0.00001
NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys)	rs62625277	0.00001
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln)	rs587778586	0.00001
NM_024675.4(PALB2):c.2329G>A (p.Asp777Asn)	rs148026749	0.00001
NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter)	rs764509489	0.00001
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)	rs180177112	0.00001
NM_024675.4(PALB2):c.2478C>T (p.Asn826=)	rs786201885	0.00001
NM_024675.4(PALB2):c.2508C>G (p.Val836=)	rs786203603	0.00001
NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg)	rs587782387	0.00001
NM_024675.4(PALB2):c.3061G>A (p.Gly1021Arg)	rs143808171	0.00001
NM_024675.4(PALB2):c.3282G>A (p.Val1094=)	rs747861082	0.00001
NM_024675.4(PALB2):c.3366C>T (p.Asp1122=)	rs373783514	0.00001
NM_024675.4(PALB2):c.3483T>C (p.Phe1161=)	rs372686500	0.00001
NM_024675.4(PALB2):c.353T>C (p.Ile118Thr)	rs370404126	0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)	rs118203998	0.00001
NM_024675.4(PALB2):c.438A>C (p.Arg146Ser)	rs587781498	0.00001
NM_024675.4(PALB2):c.495C>T (p.Gly165=)	rs200937538	0.00001
NM_024675.4(PALB2):c.660T>C (p.Ser220=)	rs571762192	0.00001
NM_024675.4(PALB2):c.758dup (p.Ser254fs)	rs515726126	0.00001
NM_024675.4(PALB2):c.84C>T (p.Tyr28=)	rs761533286	0.00001
NM_024675.4(PALB2):c.856C>T (p.Pro286Ser)	rs45585833	0.00001
NM_024675.4(PALB2):c.928A>G (p.Ser310Gly)	rs45561331	0.00001
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter)	rs786203821	0.00001
NM_024675.4(PALB2):c.993A>G (p.Glu331=)	rs760362870	0.00001
NM_024685.4(BBS10):c.1184dup (p.His395fs)	rs786204573	0.00001
NM_024685.4(BBS10):c.118A>T (p.Lys40Ter)	rs202228478	0.00001
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser)	rs786204575	0.00001
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu)	rs1555202697	0.00001
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter)	rs758732081	0.00001
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)	rs778090540	0.00001
NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter)	rs201063733	0.00001
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)	rs201196733	0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)	rs567573386	0.00001
NM_031885.5(BBS2):c.224T>G (p.Val75Gly)	rs121908174	0.00001
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys)	rs750506474	0.00001
NM_031885.5(BBS2):c.327G>A (p.Ser109=)	rs770497817	0.00001
NM_031885.5(BBS2):c.471G>A (p.Thr157=)	rs749983428	0.00001
NM_031885.5(BBS2):c.534+7G>C	rs886052149	0.00001
NM_031885.5(BBS2):c.563del (p.Ile188fs)	rs1367927635	0.00001
NM_031885.5(BBS2):c.717+1G>A	rs1047075022	0.00001
NM_032043.3(BRIP1):c.1A>G (p.Met1Val)	rs764585550	0.00001
NM_032043.3(BRIP1):c.612C>G (p.Ser204=)	rs587780832	0.00001
NM_032520.5(GNPTG):c.29T>A (p.Leu10Ter)	rs1555450681	0.00001
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe)	rs749936057	0.00001
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys)	rs398124434	0.00001
NM_052845.4(MMAB):c.569G>A (p.Arg190His)	rs756414548	0.00001
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys)	rs749758687	0.00001
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter)	rs786204537	0.00001
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys)	rs121908644	0.00001
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser)	rs770944877	0.00001
NM_054012.4(ASS1):c.379C>T (p.Arg127Trp)	rs771794639	0.00001
NM_054012.4(ASS1):c.496-2A>G	rs398123130	0.00001
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu)	rs121908643	0.00001
NM_054012.4(ASS1):c.773+49C>T	rs763389916	0.00001
NM_054012.4(ASS1):c.794G>A (p.Arg265His)	rs398123131	0.00001
NM_054012.4(ASS1):c.808G>C (p.Glu270Gln)	rs775163147	0.00001
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter)	rs121908645	0.00001
NM_054012.4(ASS1):c.838+1G>T	rs750214431	0.00001
NM_054012.4(ASS1):c.928A>C (p.Lys310Gln)	rs121908648	0.00001
NM_054012.4(ASS1):c.970+5G>A	rs372128852	0.00001
NM_058216.3(RAD51C):c.141C>T (p.Ser47=)	rs568912602	0.00001
NM_058216.3(RAD51C):c.234A>G (p.Thr78=)	rs730881929	0.00001
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe)	rs267606999	0.00001
NM_058216.3(RAD51C):c.571+4A>G	rs587780257	0.00001
NM_058216.3(RAD51C):c.905-2_905-1del	rs587781995	0.00001
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter)	rs8766588714	0.00001
NM_133259.4(LRPPRC):c.1582+7A>G	rs863225446	0.00001
NM_133259.4(LRPPRC):c.2385C>T (p.Gly795=)	rs886056056	0.00001
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer)	rs1419840309	0.00001
NM_138413.4(HOGA1):c.221T>G (p.Val74Gly)	rs796052084	0.00001
NM_138413.4(HOGA1):c.529G>T (p.Asp177Tyr)	rs777601935	0.00001
NM_138413.4(HOGA1):c.634A>G (p.Thr212Ala)	rs779492256	0.00001
NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr)	rs1229349983	0.00001
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter)	rs199839578	0.00001
NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter)	rs746471701	0.00001
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter)	rs761704401	0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)	rs144193508	0.00001
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter)	rs786204749	0.00001
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter)	rs754392766	0.00001
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)	rs745770404	0.00001
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter)	rs1344820986	0.00001
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile)	rs747895516	0.00001
NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs)	rs797044713	0.00001
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp)	rs748540413	0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met)	rs137852946	0.00001
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter)	rs774759689	0.00001
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys)	rs777999875	0.00001
NM_138694.4(PKHD1):c.7350+653A>G	rs1240212722	0.00001
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg)	rs886061616	0.00001
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys)	rs794727759	0.00001
NM_138694.4(PKHD1):c.881-1G>A	rs1554220431	0.00001
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter)	rs398124500	0.00001
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)	rs786204688	0.00001
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter)	rs1057516577	0.00001
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter)	rs398124503	0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter)	rs751356206	0.00001
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr)	rs761707323	0.00001
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter)	rs763363403	0.00001
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)	rs121908285	0.00001
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys)	rs753355844	0.00001
NM_152419.3(HGSNAT):c.1464+1G>A	rs398124545	0.00001
NM_152419.3(HGSNAT):c.852-2A>C	rs755710040	0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)	rs386834055	0.00001
NM_152564.5(VPS13B):c.11501del (p.Met3834fs)	rs1394681818	0.00001
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs)	rs747217399	0.00001
NM_152564.5(VPS13B):c.11746-1G>A	rs372327659	0.00001
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter)	rs933746831	0.00001
NM_152564.5(VPS13B):c.2651-10T>G	rs398124330	0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter)	rs386834080	0.00001
NM_152564.5(VPS13B):c.4224+556A>G	rs1554824890	0.00001
NM_152564.5(VPS13B):c.4259del (p.Gln1420fs)	rs386834084	0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter)	rs386834086	0.00001
NM_152564.5(VPS13B):c.5515C>T (p.Gln1839Ter)	rs1057516633	0.00001
NM_152564.5(VPS13B):c.5678_5679del (p.Leu1893fs)	rs886041586	0.00001
NM_152564.5(VPS13B):c.5752C>T (p.Arg1918Ter)	rs386834099	0.00001
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter)	rs180177365	0.00001
NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs)	rs748404277	0.00001
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs)	rs1554560735	0.00001
NM_152564.5(VPS13B):c.8361+12C>T	rs886062546	0.00001
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter)	rs386834113	0.00001
NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter)	rs727504219	0.00001
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter)	rs1269565757	0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)	rs752202089	0.00001
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter)	rs762551629	0.00001
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter)	rs377145777	0.00001
NM_153676.4(USH1C):c.672C>A (p.Cys224Ter)	rs1223763703	0.00001
NM_153717.3(EVC):c.1777-1G>A	rs1262933856	0.00001
NM_153717.3(EVC):c.1777-2A>G	rs909612975	0.00001
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro)	rs1373632260	0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn)	rs1017946059	0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro)	rs121908426	0.00001
NM_172250.3(MMAA):c.733+1G>A	rs779939886	0.00001
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp)	rs761964238	0.00001
NM_183050.4(BCKDHB):c.1067C>T (p.Pro356Leu)	rs1304667430	0.00001
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter)	rs751599203	0.00001
NM_183050.4(BCKDHB):c.181G>T (p.Glu61Ter)	rs774916970	0.00001
NM_183050.4(BCKDHB):c.1A>T (p.Met1Leu)	rs1005542482	0.00001
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val)	rs776631396	0.00001
NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala)	rs398124593	0.00001
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter)	rs398124594	0.00001
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter)	rs398124603	0.00001
NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter)	rs772038362	0.00001
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter)	rs1187839124	0.00001
NM_201548.5(CERKL):c.613+4_613+5del	rs766131721	0.00001
NM_206933.4(USH2A):c.1040A>G (p.Asp347Gly)	rs762384558	0.00001
NM_206933.4(USH2A):c.10859T>C (p.Ile3620Thr)	rs779716464	0.00001
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)	rs111033385	0.00001
NM_206933.4(USH2A):c.1397G>T (p.Gly466Val)	rs1553250627	0.00001
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe)	rs527236126	0.00001
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile)	rs770553471	0.00001
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)	rs483353054	0.00001
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter)	rs745350407	0.00001
NM_206933.4(USH2A):c.538T>C (p.Ser180Pro)	rs1171672823	0.00001
NM_206933.4(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys)	rs752992414	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.8981G>A (p.Trp2994Ter)	rs397518041	0.00001
NR_003051.3(RMRP):n.-2_6dupGTGGTTCG	rs1169511671	0.00001
NR_003051.4(RMRP):n.-20_-1dup	rs1554651403	0.00001
NR_003051.4(RMRP):n.256C>G	rs1170858087	0.00001
NC_000009.12:g.35657872C>T	rs753874439
NC_000009.12:g.35658032_35658041dup	rs1554651524
NC_000009.12:g.35658036_35658042dup	rs1554651543
NC_000013.11:g.20193020G>A	rs886037626
NC_000015.9:g.68504037_68504039delGAT	rs121908080
NM_000016.6(ACADM):c.107_113dup (p.Ser38delinsArgIleTer)	rs875989875
NM_000016.6(ACADM):c.1184A>G (p.Lys395Arg)	rs776312173
NM_000016.6(ACADM):c.1207A>G (p.Thr403Ala)	rs1462472677
NM_000016.6(ACADM):c.1A>G (p.Met1Val)	rs1057516778
NM_000016.6(ACADM):c.216+1G>T	rs1057516801
NM_000016.6(ACADM):c.224del (p.Val75fs)	rs1057516480
NM_000016.6(ACADM):c.356T>A (p.Val119Asp)	rs1553123077
NM_000016.6(ACADM):c.387+1del	rs786204424
NM_000016.6(ACADM):c.388-19T>A	rs1553123252
NM_000016.6(ACADM):c.3G>C (p.Met1Ile)	rs1553121887
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del)	rs875989857
NM_000016.6(ACADM):c.437del (p.Leu146fs)	rs749529577
NM_000016.6(ACADM):c.449_452del (p.Thr150fs)	rs786204642
NM_000016.6(ACADM):c.461T>G (p.Leu154Trp)	rs1553123263
NM_000016.6(ACADM):c.473A>G (p.Tyr158Cys)	rs1553123858
NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del)	rs1553123869
NM_000016.6(ACADM):c.542A>G (p.Asp181Gly)	rs1553123872
NM_000016.6(ACADM):c.617G>T (p.Arg206Leu)	rs200724875
NM_000016.6(ACADM):c.624T>C (p.Asp208=)	rs886046523
NM_000016.6(ACADM):c.709-2A>C	rs1553125211
NM_000016.6(ACADM):c.817_829del (p.Ala273fs)	rs875989872
NM_000016.6(ACADM):c.850-2A>G	rs761317029
NM_000016.6(ACADM):c.926dup (p.Gly310fs)	rs875989864
NM_000016.6(ACADM):c.957_958del (p.Ser320fs)	rs1057517103
NM_000016.6(ACADM):c.959C>A (p.Ser320Ter)	rs1057516485
NM_000016.6(ACADM):c.977T>C (p.Met326Thr)	rs786204631
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter)	rs1225471006
NM_000017.4(ACADS):c.1054G>A (p.Ala352Thr)	rs202078273
NM_000017.4(ACADS):c.1084C>T (p.Gln362Ter)	rs541587321
NM_000017.4(ACADS):c.1153G>T (p.Ala385Ser)	rs202124189
NM_000017.4(ACADS):c.125_135del (p.Leu42fs)	rs1057516733
NM_000017.4(ACADS):c.1A>G (p.Met1Val)	rs1291226969
NM_000017.4(ACADS):c.328G>A (p.Ala110Thr)	rs780571371
NM_000017.4(ACADS):c.409C>T (p.Gln137Ter)	rs752677472
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro)	rs777002501
NM_000017.4(ACADS):c.682_683del (p.Glu228fs)	rs786204691
NM_000017.4(ACADS):c.910dup (p.Leu304fs)	rs1057516606
NM_000017.4(ACADS):c.974G>A (p.Arg325Gln)	rs932525260
NM_000017.4(ACADS):c.988_990delinsTGT (p.Arg330Cys)	rs796051906
NM_000017.4(ACADS):c.989_990delinsAT (p.Arg330His)	rs1555244280
NM_000018.4(ACADVL):c.1043_1065dup (p.Ile356delinsTrpGlnValProTer)	rs1555528508
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs)	rs1555527532
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del)	rs754325237
NM_000018.4(ACADVL):c.1077+1G>A	rs140989450
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC	rs1057516686
NM_000018.4(ACADVL):c.1113del (p.Ile373fs)	rs1057517416
NM_000018.4(ACADVL):c.1141_1143del (p.Glu381del)	rs1057517281
NM_000018.4(ACADVL):c.1269+1G>A	rs773401248
NM_000018.4(ACADVL):c.1283del (p.Lys428fs)	rs1555528745
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg)	rs886043236
NM_000018.4(ACADVL):c.138+2T>C	rs1057516817
NM_000018.4(ACADVL):c.138+2dup	rs1555527548
NM_000018.4(ACADVL):c.1434+14T>A	rs202217537
NM_000018.4(ACADVL):c.1532+2T>C	rs111851815
NM_000018.4(ACADVL):c.1679-5del	rs1555528999
NM_000018.4(ACADVL):c.1770_1773del (p.Ser590fs)	rs1555529048
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer)	rs796051917
NM_000018.4(ACADVL):c.1908dup (p.Ile637fs)	rs1555529204
NM_000018.4(ACADVL):c.1923G>C (p.Leu641Phe)	rs1452402269
NM_000018.4(ACADVL):c.192del (p.Lys64fs)	rs771055189
NM_000018.4(ACADVL):c.266del (p.Pro89fs)	rs771808680
NM_000018.4(ACADVL):c.277+2T>G	rs1555527745
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs)	rs786204713
NM_000018.4(ACADVL):c.299_305del (p.Gln100fs)	rs1555527806
NM_000018.4(ACADVL):c.308_309del (p.Lys103fs)	rs1057516979
NM_000018.4(ACADVL):c.343del	rs387906249
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)	rs387906251
NM_000018.4(ACADVL):c.428_467del (p.Gly143fs)	rs758144859
NM_000018.4(ACADVL):c.433C>T (p.Gln145Ter)	rs786204738
NM_000018.4(ACADVL):c.535G>T (p.Gly179Trp)	rs796051909
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro)	rs768975918
NM_000018.4(ACADVL):c.640T>G (p.Phe214Val)	rs1192969297
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer)	rs1057516714
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs)	rs1555528304
NM_000018.4(ACADVL):c.739A>G (p.Lys247Glu)	rs387906253
NM_000018.4(ACADVL):c.799_802del (p.Val267fs)	rs761204548
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del)	rs387906252
NM_000018.4(ACADVL):c.898A>G (p.Met300Val)	rs1026112888
NM_000018.4(ACADVL):c.932del (p.Phe311fs)	rs764488310
NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter)	rs149467828
NM_000018.4(ACADVL):c.996del (p.Ala333fs)	rs1057516843
NM_000018.4(ACADVL):c.996dup (p.Ala333fs)	rs1057516843
NM_000022.4(ADA):c.219-2A>G	rs387906267
NM_000022.4(ADA):c.383_404dup (p.Leu137fs)	rs1555844616
NM_000022.4(ADA):c.396dup (p.Val133fs)	rs1555844617
NM_000022.4(ADA):c.467G>T (p.Arg156Leu)	rs121908722
NM_000022.4(ADA):c.478+6T>A	rs1555844600
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer)	rs886041796
NM_000022.4(ADA):c.556G>A (p.Glu186Lys)	rs1555844416
NM_000022.4(ADA):c.603C>G (p.Tyr201Ter)	rs1555844395
NM_000022.4(ADA):c.716G>A (p.Gly239Asp)	rs1312320956
NM_000022.4(ADA):c.736C>T (p.Gln246Ter)	rs1555844120
NM_000022.4(ADA):c.785_786insGTCTG (p.Cys262fs)	rs757796081
NM_000022.4(ADA):c.956_960del (p.Glu319fs)	rs771266745
NM_000023.3(SGCA):c.586delG	rs1220674950
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter)	rs763372958
NM_000023.4(SGCA):c.279_284del (p.Thr94_Pro95del)	rs1555568383
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)	rs780264754
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter)	rs886043221
NM_000023.4(SGCA):c.464del (p.Ser155fs)	rs1555568775
NM_000023.4(SGCA):c.488dup (p.Leu164fs)	rs763986788
NM_000023.4(SGCA):c.559del (p.Leu187fs)	rs1057516888
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu)	rs757481230
NM_000023.4(SGCA):c.644C>T (p.Ser215Phe)	rs750844090
NM_000023.4(SGCA):c.754_755del (p.Lys252fs)	rs1057517377
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs)	rs1555569329
NM_000027.4(AGA):c.179G>A (p.Gly60Asp)	rs121964907
NM_000027.4(AGA):c.192del (p.Cys64fs)	rs1553994830
NM_000027.4(AGA):c.200_201del (p.Glu67fs)	rs386833420
NM_000027.4(AGA):c.302C>T (p.Ala101Val)	rs121964908
NM_000027.4(AGA):c.333del (p.Ile112fs)	rs1057517223
NM_000027.4(AGA):c.34G>T (p.Val12Leu)	rs74626221
NM_000027.4(AGA):c.365C>A (p.Thr122Lys)	rs771563230
NM_000027.4(AGA):c.373_376del (p.Thr125fs)	rs386833425
NM_000027.4(AGA):c.3G>C (p.Met1Ile)	rs937973897
NM_000027.4(AGA):c.537C>A (p.Cys179Ter)	rs748171793
NM_000027.4(AGA):c.698+1G>T	rs1057517175
NM_000027.4(AGA):c.86del (p.Leu29fs)	rs764598121
NM_000027.4(AGA):c.940+1G>A	rs386833437
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)	rs180177156
NM_000030.3(AGXT):c.126dup (p.Leu43fs)	rs180177171
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter)	rs180177172
NM_000030.3(AGXT):c.221_227dup (p.Val77fs)	rs180177183
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg)	rs180177197
NM_000030.3(AGXT):c.33del (p.Lys12fs)	rs180177201
NM_000030.3(AGXT):c.423+1G>A	rs1553648493
NM_000030.3(AGXT):c.423G>C (p.Glu141Asp)	rs180177217
NM_000030.3(AGXT):c.466G>C (p.Gly156Arg)	rs121908530
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu)	rs180177225
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr)	rs180177235
NM_000030.3(AGXT):c.577del (p.Leu193fs)	rs180177241
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter)	rs180177259
NM_000030.3(AGXT):c.781C>G (p.His261Asp)	rs778567956
NM_000030.3(AGXT):c.847-1G>C	rs180177285
NM_000030.3(AGXT):c.891T>G (p.Tyr297Ter)	rs180177292
NM_000030.3(AGXT):c.943-1G>T	rs180177298
NM_000030.3(AGXT):c.976del (p.Val326fs)	rs180177301
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter)	rs796052064
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)	rs886044777
NM_000035.4(ALDOB):c.113-1_115del	rs786204598
NM_000035.4(ALDOB):c.221T>C (p.Ile74Thr)	rs781023784
NM_000035.4(ALDOB):c.324+1G>A	rs764826805
NM_000035.4(ALDOB):c.324+2T>A	rs1057516379
NM_000035.4(ALDOB):c.324G>A (p.Lys108=)	rs750026492
NM_000035.4(ALDOB):c.325-1G>A	rs1402966846
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)	rs387906225
NM_000035.4(ALDOB):c.379+1G>A	rs138121153
NM_000035.4(ALDOB):c.380-1G>A	rs1554702666
NM_000035.4(ALDOB):c.380-2A>G	rs1300461861
NM_000035.4(ALDOB):c.420del (p.Asp141fs)	rs1057517421
NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter)	rs1057516902
NM_000035.4(ALDOB):c.522C>G (p.Tyr174Ter)	rs752902486
NM_000035.4(ALDOB):c.625-2A>G	rs786204503
NM_000035.4(ALDOB):c.664G>T (p.Val222Phe)	rs1554702442
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro)	rs1554702433
NM_000035.4(ALDOB):c.888G>A (p.Trp296Ter)	rs1057517133
NM_000035.4(ALDOB):c.964G>T (p.Glu322Ter)	rs1172384674
NM_000038.6(APC):c.1312+3A>G	rs863225311
NM_000038.6(APC):c.1409-17T>G	rs764042245
NM_000038.6(APC):c.1530dup (p.Gly511fs)	rs1554081749
NM_000038.6(APC):c.1548+2T>C	rs1057517561
NM_000038.6(APC):c.1705del (p.Ser568_Val569insTer)	rs1554082135
NM_000038.6(APC):c.1958+27del	rs1402242990
NM_000038.6(APC):c.2196T>C (p.Asn732=)	rs781693283
NM_000038.6(APC):c.2804dup (p.Tyr935Ter)	rs863225332
NM_000038.6(APC):c.3612A>G (p.Gln1204=)	rs864622196
NM_000038.6(APC):c.3785dup (p.Tyr1262Ter)	rs863225345
NM_000038.6(APC):c.388del (p.Ser130fs)	rs1554069828
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)	rs121913224
NM_000038.6(APC):c.4088A>T (p.Lys1363Ile)	rs373607243
NM_000038.6(APC):c.420G>C (p.Glu140Asp)	rs202161017
NM_000038.6(APC):c.422+2T>C	rs879254169
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly)	rs72541813
NM_000038.6(APC):c.476dup (p.Tyr159Ter)	rs878853451
NM_000038.6(APC):c.5250C>T (p.Val1750=)	rs2229997
NM_000038.6(APC):c.531+1G>C	rs876659973
NM_000038.6(APC):c.5501_5506del (p.Val1834_Arg1835del)	rs587778029
NM_000038.6(APC):c.5659_5663del (p.Asn1887fs)	rs1554086854
NM_000038.6(APC):c.5669C>G (p.Ser1890Ter)	rs1554086862
NM_000038.6(APC):c.5952_5955del (p.Glu1985fs)	rs1057517544
NM_000038.6(APC):c.6371T>A (p.Leu2124Ter)	rs1057517568
NM_000038.6(APC):c.6474C>A (p.Pro2158=)	rs772027192
NM_000038.6(APC):c.6907G>A (p.Gly2303Arg)	rs544549596
NM_000038.6(APC):c.715G>C (p.Ala239Pro)	rs777760565
NM_000038.6(APC):c.730-3C>T	rs786203125
NM_000038.6(APC):c.7543A>G (p.Ile2515Val)	rs554356011
NM_000045.4(ARG1):c.129del (p.Glu44fs)	rs1169538148
NM_000045.4(ARG1):c.272dup (p.Arg92fs)	rs796051923
NM_000045.4(ARG1):c.2T>C (p.Met1Thr)	rs1554249332
NM_000045.4(ARG1):c.466-2A>G	rs1554251045
NM_000045.4(ARG1):c.80G>A (p.Gly27Asp)	rs1326930389
NM_000045.4(ARG1):c.860AAG[1] (p.Glu288del)	rs1399124034
NM_000045.4(ARG1):c.913G>A (p.Gly305Arg)	rs866970619
NM_000048.4(ASL):c.1102A>G (p.Met368Val)	rs1554328202
NM_000048.4(ASL):c.111_133del (p.Asp38fs)	rs1554326267
NM_000048.4(ASL):c.1207del (p.Val403fs)	rs1554328363
NM_000048.4(ASL):c.1297A>C (p.Ser433Arg)	rs1554328459
NM_000048.4(ASL):c.13-1G>C	rs1554326239
NM_000048.4(ASL):c.1311T>G (p.Tyr437Ter)	rs932494060
NM_000048.4(ASL):c.283_285delinsGGCG (p.Arg95fs)	rs1554326365
NM_000048.4(ASL):c.503G>A (p.Arg168His)	rs727503811
NM_000048.4(ASL):c.631_647del (p.Val211fs)	rs1554327181
NM_000048.4(ASL):c.718+5G>A	rs869312990
NM_000048.4(ASL):c.735G>A (p.Trp245Ter)	rs1554327573
NM_000048.4(ASL):c.916C>T (p.Arg306Trp)	rs868834862
NM_000048.4(ASL):c.973_976del (p.Leu325fs)	rs763407938
NM_000049.4(ASPA):c.170C>T (p.Ala57Val)	rs1555538148
NM_000049.4(ASPA):c.237-1G>A	rs1057517291
NM_000049.4(ASPA):c.244_245del (p.Met82fs)	rs786204620
NM_000049.4(ASPA):c.244dup (p.Met82fs)	rs756198538
NM_000049.4(ASPA):c.245del (p.Met82fs)	rs1057516962
NM_000049.4(ASPA):c.32del (p.Ile11fs)	rs767666474
NM_000049.4(ASPA):c.340G>T (p.Asp114Tyr)	rs1446467099
NM_000049.4(ASPA):c.382del (p.Glu129fs)	rs1555538825
NM_000049.4(ASPA):c.427A>T (p.Ile143Phe)	rs199565861
NM_000049.4(ASPA):c.428T>C (p.Ile143Thr)	rs777936704
NM_000049.4(ASPA):c.542C>T (p.Pro181Leu)	rs1335267315
NM_000049.4(ASPA):c.548C>A (p.Pro183His)	rs1555539857
NM_000049.4(ASPA):c.640G>T (p.Glu214Ter)	rs1057516416
NM_000049.4(ASPA):c.827_828del (p.Cys276fs)	rs1057517085
NM_000049.4(ASPA):c.831del (p.Val278fs)	rs1555541304
NM_000049.4(ASPA):c.867C>A (p.Tyr289Ter)	rs375736464
NM_000049.4(ASPA):c.876_879del (p.Glu293fs)	rs766720790
NM_000049.4(ASPA):c.89T>C (p.Leu30Pro)	rs1555538144
NM_000051.3(ATM):c.2839-579_2839-576del	rs587776552
NM_000051.3(ATM):c.6007dup	rs1555113505
NM_000051.4(ATM):c.1020C>A (p.Ala340=)	rs546927781
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)	rs587780612
NM_000051.4(ATM):c.1065+1G>T	rs201089102
NM_000051.4(ATM):c.1093G>T (p.Glu365Ter)	rs1555069577
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter)	rs1185204988
NM_000051.4(ATM):c.1215del (p.Asn405fs)	rs1555069815
NM_000051.4(ATM):c.1236-1G>A	rs1408719214
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer)	rs587781598
NM_000051.4(ATM):c.1305del (p.Leu435fs)	rs1555070719
NM_000051.4(ATM):c.1524del (p.Gly509fs)	rs786204737
NM_000051.4(ATM):c.1655del (p.Pro552fs)	rs1057516876
NM_000051.4(ATM):c.1741_1742del (p.Leu581fs)	rs1057516721
NM_000051.4(ATM):c.1753_1756del (p.Leu585fs)	rs1555072008
NM_000051.4(ATM):c.1754dup (p.Leu585fs)	rs1555072012
NM_000051.4(ATM):c.192del (p.Leu64fs)	rs878853490
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter)	rs768362387
NM_000051.4(ATM):c.1A>C (p.Met1Leu)	rs730881359
NM_000051.4(ATM):c.1A>G (p.Met1Val)	rs730881359
NM_000051.4(ATM):c.2125del (p.Ile709fs)	rs1057517248
NM_000051.4(ATM):c.2135C>G (p.Ser712Ter)	rs1057516620
NM_000051.4(ATM):c.2165dup (p.Leu722fs)	rs1057516393
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)	rs587781658
NM_000051.4(ATM):c.2295del (p.Asn765fs)	rs876658583
NM_000051.4(ATM):c.2377_2378dup (p.Ser794fs)	rs1057516980
NM_000051.4(ATM):c.2606_2607del (p.Ala869fs)	rs1057516944
NM_000051.4(ATM):c.2638+2T>C	rs587779826
NM_000051.4(ATM):c.2789T>G (p.Leu930Ter)	rs786203309
NM_000051.4(ATM):c.2805G>C (p.Thr935=)	rs55934812
NM_000051.4(ATM):c.2877C>G (p.Tyr959Ter)	rs1057517253
NM_000051.4(ATM):c.2880del (p.Leu961fs)	rs730881300
NM_000051.4(ATM):c.2921+1G>A	rs587781558
NM_000051.4(ATM):c.2921+1G>C	rs587781558
NM_000051.4(ATM):c.2922-1G>T	rs1555084931
NM_000051.4(ATM):c.2999dup (p.Asn1000fs)	rs1057516250
NM_000051.4(ATM):c.3024dup (p.Glu1009Ter)	rs1555085172
NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter)	rs780240314
NM_000051.4(ATM):c.3154-1G>A	rs1555085973
NM_000051.4(ATM):c.3231dup (p.Leu1078fs)	rs1057517097
NM_000051.4(ATM):c.3292del (p.Gln1098fs)	rs1555090075
NM_000051.4(ATM):c.331+1G>A	rs1555055356
NM_000051.4(ATM):c.331+5G>A	rs752135143
NM_000051.4(ATM):c.3315dup (p.Arg1106fs)	rs1057516301
NM_000051.4(ATM):c.3320_3323del (p.Arg1106_Leu1107insTer)	rs1555090139
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs)	rs1057516446
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs)	rs587781971
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter)	rs1057516981
NM_000051.4(ATM):c.3603del (p.Phe1201fs)	rs1057517129
NM_000051.4(ATM):c.3747-10C>G	rs775274473
NM_000051.4(ATM):c.3747-2A>G	rs1057517213
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter)	rs886039637
NM_000051.4(ATM):c.378del (p.Asp126fs)	rs587781449
NM_000051.4(ATM):c.3880dup (p.Ile1294fs)	rs1057516541
NM_000051.4(ATM):c.3886C>T (p.Pro1296Ser)	rs864622654
NM_000051.4(ATM):c.3935dup (p.Glu1313fs)	rs876659672
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs)	rs1555093684
NM_000051.4(ATM):c.3993+1G>T	rs200196781
NM_000051.4(ATM):c.3994-1G>T	rs1057516238
NM_000051.4(ATM):c.4007del (p.Phe1336fs)	rs1555095841
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs)	rs1057517140
NM_000051.4(ATM):c.4095_4096del (p.Leu1365_Cys1366insTer)	rs1555096057
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer)	rs876658248
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter)	rs141087784
NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter)	rs1060501551
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs)	rs1555097650
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter)	rs373226793
NM_000051.4(ATM):c.4436+1G>T	rs1555097894
NM_000051.4(ATM):c.4451del (p.Met1484fs)	rs1555099760
NM_000051.4(ATM):c.4588G>T (p.Glu1530Ter)	rs864622479
NM_000051.4(ATM):c.4664del (p.Leu1555fs)	rs876659039
NM_000051.4(ATM):c.4695del (p.Pro1566fs)	rs1057517452
NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter)	rs746499337
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter)	rs869312755
NM_000051.4(ATM):c.4776+1G>T	rs771117943
NM_000051.4(ATM):c.4776+2T>A	rs587781927
NM_000051.4(ATM):c.478_482del (p.Ser160fs)	rs587780624
NM_000051.4(ATM):c.495_496+16del	rs1555059522
NM_000051.4(ATM):c.496+5G>A	rs796051858
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter)	rs786201693
NM_000051.4(ATM):c.5177+5G>A	rs759373136
NM_000051.4(ATM):c.5178-1G>A	rs1555105579
NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter)	rs1555105786
NM_000051.4(ATM):c.5319+1G>T	rs876660175
NM_000051.4(ATM):c.5320-5_5320-2del	rs730881310
NM_000051.4(ATM):c.5351del (p.Asn1784fs)	rs1057517101
NM_000051.4(ATM):c.5354C>A (p.Pro1785His)	rs1555106368
NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter)	rs879254171
NM_000051.4(ATM):c.5460dup (p.Cys1821fs)	rs1057516760
NM_000051.4(ATM):c.5497-2A>C	rs786203796
NM_000051.4(ATM):c.5549del (p.Leu1850fs)	rs876658287
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter)	rs754562056
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter)	rs879254076
NM_000051.4(ATM):c.5712dup (p.Ser1905fs)	rs587781730
NM_000051.4(ATM):c.5762+1G>T	rs869312756
NM_000051.4(ATM):c.5763-2A>T	rs876659489
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs)	rs587779851
NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter)	rs201963507
NM_000051.4(ATM):c.5910del (p.Glu1971fs)	rs587782198
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter)	rs375783941
NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp)	rs786203767
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)	rs397514577
NM_000051.4(ATM):c.6325dup (p.Trp2109fs)	rs1555114812
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)	rs587782554
NM_000051.4(ATM):c.640del (p.Ser214fs)	rs786204543
NM_000051.4(ATM):c.6482_6483dup (p.Ser2162fs)	rs1057516905
NM_000051.4(ATM):c.6586A>T (p.Arg2196Ter)	rs1555119011
NM_000051.4(ATM):c.6596_6597del (p.Leu2198_Ser2199insTer)	rs747057367
NM_000051.4(ATM):c.664C>T (p.Gln222Ter)	rs1555066917
NM_000051.4(ATM):c.6850del (p.Val2284fs)	rs876659569
NM_000051.4(ATM):c.6976-2A>C	rs587782403
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs)	rs786203421
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)	rs587781672
NM_000051.4(ATM):c.7141_7151del (p.Asn2381fs)	rs1555122030
NM_000051.4(ATM):c.7166C>G (p.Ser2389Ter)	rs1018140779
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)	rs121434220
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp)	rs876659365
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer)	rs876659003
NM_000051.4(ATM):c.7629_7629+4del	rs876660041
NM_000051.4(ATM):c.7630-2A>G	rs587779866
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.7788G>C (p.Glu2596Asp)	rs587780639
NM_000051.4(ATM):c.7789-3T>G	rs864622185
NM_000051.4(ATM):c.7789G>T (p.Asp2597Tyr)	rs1555125212
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs)	rs730881293
NM_000051.4(ATM):c.785T>A (p.Leu262Ter)	rs864622163
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)	rs267606668
NM_000051.4(ATM):c.7880del (p.Tyr2627fs)	rs1057516599
NM_000051.4(ATM):c.7927+5del	rs786204437
NM_000051.4(ATM):c.7951C>T (p.Gln2651Ter)	rs587781994
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp)	rs863224463
NM_000051.4(ATM):c.7998dup (p.Met2667fs)	rs587779869
NM_000051.4(ATM):c.8011-6T>G	rs762092284
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter)	rs758588019
NM_000051.4(ATM):c.8106dup (p.Asp2703fs)	rs1555127231
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)	rs587782719
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter)	rs587781967
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter)	rs1060504292
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)	rs786202800
NM_000051.4(ATM):c.8418+1G>A	rs766533795
NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter)	rs1555138291
NM_000051.4(ATM):c.8584+6C>G	rs863224300
NM_000051.4(ATM):c.8585-2A>G	rs1060501700
NM_000051.4(ATM):c.8586del (p.Gly2863fs)	rs1555139467
NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter)	rs1555142845
NM_000051.4(ATM):c.877A>T (p.Lys293Ter)	rs1057516442
NM_000051.4(ATM):c.8802del (p.Met2935fs)	rs876660567
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.8988-1G>A	rs730881386
NM_000051.4(ATM):c.901+6A>C	rs1555067357
NM_000051.4(ATM):c.9064dup (p.Glu3022fs)	rs1057516282
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)	rs587780645
NM_000051.4(ATM):c.9109C>T (p.Gln3037Ter)	rs1555152009
NM_000053.4(ATP7B):c.1063C>T (p.Gln355Ter)	rs778490238
NM_000053.4(ATP7B):c.1340_1343del (p.Gln447fs)	rs1057517444
NM_000053.4(ATP7B):c.1372G>T (p.Glu458Ter)	rs1057516305
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter)	rs778675259
NM_000053.4(ATP7B):c.1512dup (p.Asn505Ter)	rs1057516418
NM_000053.4(ATP7B):c.1639C>T (p.Gln547Ter)	rs996419100
NM_000053.4(ATP7B):c.1708-2A>G	rs1057517024
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer)	rs1057516893
NM_000053.4(ATP7B):c.1739del (p.His580fs)	rs1555293357
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs)	rs753962912
NM_000053.4(ATP7B):c.174dup (p.Thr59fs)	rs1057516561
NM_000053.4(ATP7B):c.1782del (p.Thr593_Tyr594insTer)	rs780327716
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs)	rs749363958
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val)	rs587783301
NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer)	rs779904655
NM_000053.4(ATP7B):c.2011_2012dup (p.Met671fs)	rs1555291870
NM_000053.4(ATP7B):c.2038C>T (p.Gln680Ter)	rs1555291848
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg)	rs121908001
NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys)	rs1212479289
NM_000053.4(ATP7B):c.2097_2100del (p.Phe699fs)	rs1555291784
NM_000053.4(ATP7B):c.2121+3A>G	rs1248002612
NM_000053.4(ATP7B):c.2122-1G>A	rs1319653818
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala)	rs1555291285
NM_000053.4(ATP7B):c.2157C>A (p.Tyr719Ter)	rs1057516380
NM_000053.4(ATP7B):c.2217dup (p.Ala740fs)	rs1555291207
NM_000053.4(ATP7B):c.2233_2234del (p.Leu745fs)	rs1555291195
NM_000053.4(ATP7B):c.2279C>T (p.Pro760Leu)	rs766907687
NM_000053.4(ATP7B):c.2303C>T (p.Pro768Leu)	rs1057516844
NM_000053.4(ATP7B):c.2304dup (p.Met769fs)	rs137853287
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly)	rs137853284
NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter)	rs770020484
NM_000053.4(ATP7B):c.2438_2440delinsAT (p.Leu813fs)	rs1555290810
NM_000053.4(ATP7B):c.2513del (p.Lys838fs)	rs777362050
NM_000053.4(ATP7B):c.2532del (p.Val845fs)	rs755709270
NM_000053.4(ATP7B):c.2575+1G>A	rs766149114
NM_000053.4(ATP7B):c.2620G>C (p.Ala874Pro)	rs376355660
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn)	rs540935874
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)	rs121907993
NM_000053.4(ATP7B):c.2810del (p.Val937fs)	rs1057516643
NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys)	rs1057517310
NM_000053.4(ATP7B):c.2826_2832del (p.Gly943fs)	rs1555288385
NM_000053.4(ATP7B):c.2827G>T (p.Gly943Cys)	rs28942076
NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg)	rs199623434
NM_000053.4(ATP7B):c.3061-12T>A	rs1045194246
NM_000053.4(ATP7B):c.3086C>T (p.Thr1029Ile)	rs1555286628
NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val)	rs753594031
NM_000053.4(ATP7B):c.3147del (p.Thr1050fs)	rs762031690
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter)	rs753236073
NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu)	rs778543794
NM_000053.4(ATP7B):c.3157dup (p.Leu1053fs)	rs1555286522
NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys)	rs376910645
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly)	rs1555286478
NM_000053.4(ATP7B):c.3244-2A>G	rs786204584
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe)	rs1286080173
NM_000053.4(ATP7B):c.3266G>A (p.Gly1089Glu)	rs1555285911
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr)	rs778825095
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg)	rs786204483
NM_000053.4(ATP7B):c.3350_3353del (p.Glu1117fs)	rs1555285830
NM_000053.4(ATP7B):c.3436G>A (p.Val1146Met)	rs1213481140
NM_000053.4(ATP7B):c.3449del (p.Asn1150fs)	rs1555285380
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His)	rs377297166
NM_000053.4(ATP7B):c.3506T>C (p.Met1169Thr)	rs1555285311
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter)	rs1057516479
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly)	rs587783315
NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter)	rs748924063
NM_000053.4(ATP7B):c.3556+1G>T	rs184388696
NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter)	rs786204658
NM_000053.4(ATP7B):c.3638G>T (p.Gly1213Val)	rs1555284582
NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del)	rs781266802
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met)	rs193922107
NM_000053.4(ATP7B):c.3662G>A (p.Gly1221Glu)	rs1486594906
NM_000053.4(ATP7B):c.3664del (p.Asp1222fs)	rs886042519
NM_000053.4(ATP7B):c.3700-1G>A	rs1555284021
NM_000053.4(ATP7B):c.3722C>T (p.Ala1241Val)	rs1555283994
NM_000053.4(ATP7B):c.3767A>G (p.Gln1256Arg)	rs1555283946
NM_000053.4(ATP7B):c.3800A>C (p.Asp1267Ala)	rs1555283916
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln)	rs758355520
NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly)	rs778914828
NM_000053.4(ATP7B):c.3852_3875del (p.Gly1285_Ile1292del)	rs1555283826
NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg)	rs373748155
NM_000053.4(ATP7B):c.388_389dup (p.Ala131fs)	rs1057517384
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe)	rs749472361
NM_000053.4(ATP7B):c.4063G>A (p.Gly1355Ser)	rs1555282751
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe)	rs776848753
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs)	rs771603301
NM_000053.4(ATP7B):c.4106C>T (p.Ser1369Leu)	rs1555282678
NM_000053.4(ATP7B):c.4118T>C (p.Leu1373Pro)	rs780811477
NM_000053.4(ATP7B):c.4125-2A>G	rs1555282347
NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs)	rs1555282191
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs)	rs558037268
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)	rs786204570
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)	rs572147914
NM_000053.4(ATP7B):c.841C>T (p.Gln281Ter)	rs1555296356
NM_000055.4(BCHE):c.1027dup (p.Thr343fs)	rs754214624
NM_000055.4(BCHE):c.382C>T (p.Pro128Ser)	rs3732880
NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer)	rs1057517359
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer)	rs1057517030
NM_000057.4(BLM):c.1221-2A>C	rs1555419779
NM_000057.4(BLM):c.1316del (p.Met439fs)	rs1555419829
NM_000057.4(BLM):c.1399dup (p.Asp467fs)	rs1555419862
NM_000057.4(BLM):c.1429_1432del (p.Thr477fs)	rs1555419873
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs)	rs746244182
NM_000057.4(BLM):c.1549dup (p.Ser517fs)	rs1555419902
NM_000057.4(BLM):c.1720_1735del (p.Ala575fs)	rs1057516361
NM_000057.4(BLM):c.1752del (p.Gln585fs)	rs1555419961
NM_000057.4(BLM):c.1764_1777del (p.Lys588fs)	rs1057516956
NM_000057.4(BLM):c.2193+1_2193+9del	rs1060500652
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs)	rs1555420602
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs)	rs1555420842
NM_000057.4(BLM):c.2407-7del	rs769184675
NM_000057.4(BLM):c.2407-9del	rs747699258
NM_000057.4(BLM):c.2407dup (p.Trp803fs)	rs367543012
NM_000057.4(BLM):c.298_299del (p.Gln100fs)	rs745807085
NM_000057.4(BLM):c.2T>C (p.Met1Thr)	rs1057516593
NM_000057.4(BLM):c.3016_3017del (p.Met1006fs)	rs1555423119
NM_000057.4(BLM):c.3022del (p.Glu1008fs)	rs1057516719
NM_000057.4(BLM):c.3499del (p.Ala1167fs)	rs1555424305
NM_000057.4(BLM):c.3508del (p.Tyr1170fs)	rs1555424311
NM_000057.4(BLM):c.3566_3567del (p.Phe1189fs)	rs1555424372
NM_000057.4(BLM):c.3589del (p.Ser1197fs)	rs1555424376
NM_000057.4(BLM):c.3638del (p.Glu1213fs)	rs1057516547
NM_000057.4(BLM):c.3692_3693del (p.Lys1231fs)	rs1234064430
NM_000057.4(BLM):c.3753del (p.Glu1251fs)	rs1275708646
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter)	rs367543031
NM_000057.4(BLM):c.3890del (p.Pro1297fs)	rs1555425062
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs)	rs1057516261
NM_000057.4(BLM):c.4251A>C (p.Ser1417=)	rs886051553
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer)	rs1555418352
NM_000057.4(BLM):c.543del (p.Ser181fs)	rs1555418380
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer)	rs367543026
NM_000057.4(BLM):c.608_609del (p.Thr203fs)	rs1170049553
NM_000057.4(BLM):c.772_773del (p.Leu258fs)	rs367543013
NM_000057.4(BLM):c.991_995del (p.Lys331fs)	rs786204524
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)	rs80359351
NM_000059.4(BRCA2):c.1054dup (p.Tyr352fs)	rs80359261
NM_000059.4(BRCA2):c.1062dup (p.Val355fs)	rs1555281716
NM_000059.4(BRCA2):c.1127T>G (p.Phe376Cys)	rs80358410
NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter)	rs760815829
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs)	rs80359276
NM_000059.4(BRCA2):c.1456C>T (p.Gln486Ter)	rs80358434
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)	rs80358435
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu)	rs56390402
NM_000059.4(BRCA2):c.1689G>A (p.Trp563Ter)	rs80358456
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)	rs80359302
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer)	rs276174813
NM_000059.4(BRCA2):c.1909+1G>A	rs587781629
NM_000059.4(BRCA2):c.1909+22del	rs276174816
NM_000059.4(BRCA2):c.2380dup (p.Met794fs)	rs730881602
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile)	rs80358507
NM_000059.4(BRCA2):c.2522G>A (p.Arg841Lys)	rs587781915
NM_000059.4(BRCA2):c.2526A>G (p.Val842=)	rs770778164
NM_000059.4(BRCA2):c.2743_2747del (p.Thr915fs)	rs786204752
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His)	rs28897716
NM_000059.4(BRCA2):c.2881C>T (p.Gln961Ter)	rs80358538
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile)	rs276174831
NM_000059.4(BRCA2):c.3009_3010del (p.His1003fs)	rs397507300
NM_000059.4(BRCA2):c.3167_3170del (p.Gln1056fs)	rs80359372
NM_000059.4(BRCA2):c.3336del (p.Glu1113fs)	rs398122763
NM_000059.4(BRCA2):c.3477C>A (p.Cys1159Ter)	rs431825307
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)	rs80359388
NM_000059.4(BRCA2):c.3569G>A (p.Arg1190Gln)	rs80358605
NM_000059.4(BRCA2):c.3774_3775del (p.Ile1258fs)	rs886038094
NM_000059.4(BRCA2):c.3779dup (p.Leu1260fs)	rs397507686
NM_000059.4(BRCA2):c.3859_3860del (p.Lys1286_Asn1287insTer)	rs80359406
NM_000059.4(BRCA2):c.3966_3968del (p.Asn1322del)	rs397507319
NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs)	rs80359421
NM_000059.4(BRCA2):c.4058_4062del (p.Glu1353fs)	rs397507322
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu)	rs56248502
NM_000059.4(BRCA2):c.4090A>G (p.Ile1364Val)	rs56248502
NM_000059.4(BRCA2):c.4127_4130del (p.Gly1376fs)	rs397507323
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del)	rs80359432
NM_000059.4(BRCA2):c.4258del (p.Asp1420fs)	rs80359436
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)	rs80359439
NM_000059.4(BRCA2):c.4405_4409del (p.Asp1469fs)	rs397507331
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs)	rs80359454
NM_000059.4(BRCA2):c.4554del (p.Glu1518fs)	rs80359458
NM_000059.4(BRCA2):c.4570_4573del (p.Phe1524fs)	rs1057517565
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter)	rs80358692
NM_000059.4(BRCA2):c.4731del (p.Glu1577fs)	rs397507740
NM_000059.4(BRCA2):c.5035del (p.Thr1679fs)	rs80359477
NM_000059.4(BRCA2):c.5095G>A (p.Asp1699Asn)	rs80358731
NM_000059.4(BRCA2):c.5110_5113del (p.Glu1703_Arg1704insTer)	rs879254123
NM_000059.4(BRCA2):c.5159C>A (p.Ser1720Ter)	rs80358740
NM_000059.4(BRCA2):c.517-12C>A	rs398122795
NM_000059.4(BRCA2):c.5210A>T (p.Asp1737Val)	rs587778120
NM_000059.4(BRCA2):c.5270_5286del (p.Tyr1757fs)	rs80359502
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)	rs80359507
NM_000059.4(BRCA2):c.5378A>G (p.Asn1793Ser)	rs80358759
NM_000059.4(BRCA2):c.551T>C (p.Leu184Pro)	rs80358775
NM_000059.4(BRCA2):c.5542del (p.Ser1848fs)	rs80359519
NM_000059.4(BRCA2):c.5554G>A (p.Val1852Ile)	rs80358777
NM_000059.4(BRCA2):c.5590_5591del (p.Asp1864fs)	rs886040598
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)	rs80359525
NM_000059.4(BRCA2):c.5631del (p.Asn1877fs)	rs397507357
NM_000059.4(BRCA2):c.5653del (p.Cys1885fs)	rs886040602
NM_000059.4(BRCA2):c.5715dup (p.Asn1906Ter)	rs587782901
NM_000059.4(BRCA2):c.572A>T (p.Asp191Val)	rs397507798
NM_000059.4(BRCA2):c.5737T>G (p.Cys1913Gly)	rs80358799
NM_000059.4(BRCA2):c.575T>C (p.Met192Thr)	rs80358805
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs)	rs80359543
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter)	rs80358840
NM_000059.4(BRCA2):c.6125A>C (p.Gln2042Pro)	rs80358852
NM_000059.4(BRCA2):c.631+1G>A	rs81002897
NM_000059.4(BRCA2):c.631+2T>A	rs81002899
NM_000059.4(BRCA2):c.6465C>T (p.Leu2155=)	rs746099644
NM_000059.4(BRCA2):c.68-7dup	rs276174878
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs)	rs587781803
NM_000059.4(BRCA2):c.6879del (p.Phe2293fs)	rs886040932
NM_000059.4(BRCA2):c.6944_6947del (p.Ile2315fs)	rs80359629
NM_000059.4(BRCA2):c.7008-2A>T	rs81002823
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter)	rs80358928
NM_000059.4(BRCA2):c.7188G>A (p.Leu2396=)	rs587780871
NM_000059.4(BRCA2):c.71_96del (p.Asp23_Leu24insTer)	rs80359637
NM_000059.4(BRCA2):c.7224A>G (p.Pro2408=)	rs276174891
NM_000059.4(BRCA2):c.7230del (p.Phe2410fs)	rs1555286052
NM_000059.4(BRCA2):c.7241C>G (p.Ser2414Ter)	rs80358951
NM_000059.4(BRCA2):c.7252A>G (p.Arg2418Gly)	rs80358953
NM_000059.4(BRCA2):c.7366C>T (p.Gln2456Ter)	rs397507912
NM_000059.4(BRCA2):c.7415A>C (p.Lys2472Thr)	rs80358963
NM_000059.4(BRCA2):c.7436-19A>G	rs398122583
NM_000059.4(BRCA2):c.7525dup (p.Ser2509fs)	rs80359656
NM_000059.4(BRCA2):c.7832A>G (p.Asp2611Gly)	rs80359010
NM_000059.4(BRCA2):c.7847del (p.Ser2616fs)	rs80359685
NM_000059.4(BRCA2):c.7946del (p.Pro2649fs)	rs863224828
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg)	rs80359024
NM_000059.4(BRCA2):c.7976+5G>A	rs786201180
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)	rs80359027
NM_000059.4(BRCA2):c.7979_7991del (p.Tyr2660fs)	rs730881614
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter)	rs80359046
NM_000059.4(BRCA2):c.8143A>T (p.Lys2715Ter)	rs863224469
NM_000059.4(BRCA2):c.8145del (p.Val2716fs)	rs1135401923
NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala)	rs41293513
NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly)	rs41293513
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp)	rs80359071
NM_000059.4(BRCA2):c.8332-2A>G	rs587782774
NM_000059.4(BRCA2):c.8478C>A (p.Tyr2826Ter)	rs776353983
NM_000059.4(BRCA2):c.8488-1G>A	rs397507404
NM_000059.4(BRCA2):c.8754+4A>G	rs81002893
NM_000059.4(BRCA2):c.8755-1G>A	rs81002812
NM_000059.4(BRCA2):c.8808G>C (p.Leu2936Phe)	rs80359138
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)	rs28897754
NM_000059.4(BRCA2):c.8954-3C>G	rs81002844
NM_000059.4(BRCA2):c.8954-5_8954-2del	rs587782878
NM_000059.4(BRCA2):c.9117+9C>T	rs81002869
NM_000059.4(BRCA2):c.9148C>T (p.Gln3050Ter)	rs80359170
NM_000059.4(BRCA2):c.9227G>A (p.Gly3076Glu)	rs80359187
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)	rs80359752
NM_000059.4(BRCA2):c.9256+1G>A	rs81002883
NM_000059.4(BRCA2):c.9344A>G (p.Lys3115Arg)	rs276174923
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)	rs55939572
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser)	rs55939572
NM_000059.4(BRCA2):c.9648+1G>A	rs730881573
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)	rs80359775
NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter)	rs80359251
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del)	rs863224965
NM_000070.3(CAPN3):c.1030-1G>A	rs1555421263
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)	rs775453643
NM_000070.3(CAPN3):c.1298_1299del (p.Val433fs)	rs1293496023
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)	rs773827877
NM_000070.3(CAPN3):c.1342C>G (p.Arg448Gly)	rs776043976
NM_000070.3(CAPN3):c.1355-6G>T	rs28364485
NM_000070.3(CAPN3):c.1477C>G (p.Arg493Gly)	rs557164942
NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys)	rs767739787
NM_000070.3(CAPN3):c.1743_1744del (p.Glu582fs)	rs886042573
NM_000070.3(CAPN3):c.2035_2036insAAACA (p.Thr679fs)	rs1555423021
NM_000070.3(CAPN3):c.2050+1del	rs1555423027
NM_000070.3(CAPN3):c.2088C>T (p.Ser696=)	rs867628179
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp)	rs770894443
NM_000070.3(CAPN3):c.2207_2208del (p.Thr736fs)	rs587780289
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs)	rs775130589
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp)	rs868791726
NM_000070.3(CAPN3):c.2337dup (p.Asp780Ter)	rs1447774727
NM_000070.3(CAPN3):c.2380+1G>T	rs1555423222
NM_000070.3(CAPN3):c.2381-2A>G	rs863224962
NM_000070.3(CAPN3):c.2440-6_2440-3del	rs1555423426
NM_000070.3(CAPN3):c.2440-8_2440-7insA	rs1555423427
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs)	rs797045427
NM_000070.3(CAPN3):c.380-8_395del	rs1555420302
NM_000070.3(CAPN3):c.402del (p.Ile135fs)	rs746935735
NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter)	rs1555420462
NM_000070.3(CAPN3):c.580del (p.Ser194fs)	rs398123149
NM_000070.3(CAPN3):c.590G>A (p.Arg197His)	rs768426565
NM_000070.3(CAPN3):c.59del (p.Pro20fs)	rs1555417271
NM_000070.3(CAPN3):c.632+4A>G	rs1555420507
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu)	rs1555420634
NM_000070.3(CAPN3):c.717del (p.Phe239fs)	rs776059672
NM_000070.3(CAPN3):c.741_751del (p.Met248fs)	rs1555420647
NM_000070.3(CAPN3):c.945+5G>A	rs773547765
NM_000070.3(CAPN3):c.946-1_948del	rs766156798
NM_000070.3(CAPN3):c.985G>C (p.Gly329Arg)	rs1085307995
NM_000071.3(CBS):c.1218del (p.Lys406fs)	rs794727083
NM_000071.3(CBS):c.1221del (p.Trp408fs)	rs1361324844
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu)	rs28934892
NM_000071.3(CBS):c.1321A>T (p.Lys441Ter)	rs1057516645
NM_000071.3(CBS):c.1358+1G>A	rs786204679
NM_000071.3(CBS):c.1359-1G>C	rs865990681
NM_000071.3(CBS):c.1498_1499del (p.Ser500fs)	rs1555871188
NM_000071.3(CBS):c.153_165del (p.Arg51fs)	rs1555876784
NM_000071.3(CBS):c.1552+1G>A	rs1434118781
NM_000071.3(CBS):c.1566del (p.Lys523fs)	rs786204466
NM_000071.3(CBS):c.1576C>T (p.Gln526Ter)	rs1555869958
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser)	rs121964968
NM_000071.3(CBS):c.162G>A (p.Trp54Ter)	rs199948079
NM_000071.3(CBS):c.209+1G>C	rs751464024
NM_000071.3(CBS):c.233C>G (p.Pro78Arg)	rs786204608
NM_000071.3(CBS):c.302T>C (p.Leu101Pro)	rs786204757
NM_000071.3(CBS):c.306G>C (p.Lys102Asn)	rs786204609
NM_000071.3(CBS):c.346G>A (p.Gly116Arg)	rs760214620
NM_000071.3(CBS):c.402del (p.Thr135fs)	rs1057517083
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del)	rs794727835
NM_000071.3(CBS):c.667-14_667-7del	rs764160782
NM_000071.3(CBS):c.676G>A (p.Ala226Thr)	rs763835246
NM_000071.3(CBS):c.683A>G (p.Asn228Ser)	rs1555874803
NM_000071.3(CBS):c.738del	rs766453711
NM_000071.3(CBS):c.752T>C (p.Leu251Pro)	rs1176770868
NM_000071.3(CBS):c.816T>A (p.Cys272Ter)	rs528689432
NM_000071.3(CBS):c.862G>A (p.Ala288Thr)	rs141502207
NM_000071.3(CBS):c.954+1G>A	rs1057517373
NM_000071.3(CBS):c.969G>A (p.Trp323Ter)	rs863223432
NM_000075.4(CDK4):c.70C>T (p.Arg24Cys)	rs11547328
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln)	rs6413463
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr)	rs45476696
NM_000082.4(ERCC8):c.295_297delinsTG (p.Arg99fs)	rs1131691783
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs)	rs1440033157
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu)	rs1553762113
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter)	rs759873621
NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter)	rs121912825
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs)	rs1469479748
NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del)	rs773081522
NM_000092.5(COL4A4):c.2084G>A (p.Gly695Asp)	rs1553644402
NM_000092.5(COL4A4):c.2967_2968del (p.Arg989_Gly990insTer)	rs748473278
NM_000092.5(COL4A4):c.3967C>T (p.Gln1323Ter)	rs1489351299
NM_000092.5(COL4A4):c.594+1G>A	rs1553690565
NM_000098.3(CPT2):c.110_111dup (p.Ser38fs)	rs754363068
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser)	rs28936673
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter)	rs747810875
NM_000108.5(DLD):c.105del (p.Thr34_Tyr35insTer)	rs1554396895
NM_000108.5(DLD):c.112C>T (p.Gln38Ter)	rs1057516698
NM_000108.5(DLD):c.118+1G>T	rs1554396908
NM_000108.5(DLD):c.1446_1447del (p.Arg482fs)	rs1554400713
NM_000108.5(DLD):c.1463del (p.Pro488fs)	rs1554400720
NM_000108.5(DLD):c.439-6G>C	rs369208046
NM_000108.5(DLD):c.633dup (p.Val212fs)	rs1040811473
NM_000110.4(DPYD):c.1109_1110del (p.Ile370fs)	rs749571474
NM_000112.4(SLC26A2):c.1806_1809del (p.Thr603fs)	rs1057517530
NM_000112.4(SLC26A2):c.391del (p.Leu131fs)	rs786200881
NM_000112.4(SLC26A2):c.485_486del (p.Val162fs)	rs763198695
NM_000128.4(F11):c.1075del (p.Ile359fs)	rs786204429
NM_000128.4(F11):c.16C>T (p.Gln6Ter)	rs1554081288
NM_000128.4(F11):c.218+4A>G	rs767240420
NM_000128.4(F11):c.449C>T (p.Thr150Met)	rs1340928778
NM_000128.4(F11):c.644_649del (p.Ile215_Asp216del)	rs1459304265
NM_000128.4(F11):c.908del (p.Gly303fs)	rs786204722
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs)	rs769580546
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter)	rs1484087361
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter)	rs774026652
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu)	rs1060501879
NM_000135.4(FANCA):c.1475A>G (p.His492Arg)	rs925457555
NM_000135.4(FANCA):c.163C>T (p.Gln55Ter)	rs1555580427
NM_000135.4(FANCA):c.1776+7A>G	rs1555552070
NM_000135.4(FANCA):c.1796_1800dup (p.Val601fs)	rs1555552006
NM_000135.4(FANCA):c.189+1G>A	rs891323617
NM_000135.4(FANCA):c.190-1G>T	rs765277254
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.2051T>C (p.Leu684Pro)	rs762526878
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter)	rs1555548512
NM_000135.4(FANCA):c.2151+2T>C	rs937874201
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs)	rs1555547935
NM_000135.4(FANCA):c.2222+1G>C	rs775388912
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter)	rs1555547474
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del)	rs1310756192
NM_000135.4(FANCA):c.2524del (p.Ser842fs)	rs1205909298
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter)	rs1247378731
NM_000135.4(FANCA):c.2667del (p.Ser890fs)	rs1555545517
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs)	rs1555545421
NM_000135.4(FANCA):c.2778+2T>C	rs1458001028
NM_000135.4(FANCA):c.283+1G>T	rs1232171121
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)	rs755546887
NM_000135.4(FANCA):c.2853-15_2856del	rs1285346388
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu)	rs149112292
NM_000135.4(FANCA):c.2910del (p.Gly972fs)	rs1278836130
NM_000135.4(FANCA):c.2T>A (p.Met1Lys)	rs769479800
NM_000135.4(FANCA):c.3066+1G>T	rs587783028
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)	rs753063086
NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu)	rs1429943036
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln)	rs1555538571
NM_000135.4(FANCA):c.3402dup (p.Phe1135fs)	rs1555537347
NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter)	rs1381684916
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del)	rs1380850249
NM_000135.4(FANCA):c.3696del (p.Phe1232fs)	rs1555535527
NM_000135.4(FANCA):c.3761_3762dup (p.Glu1255fs)	rs868273545
NM_000135.4(FANCA):c.3828+1G>A	rs1432988639
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter)	rs986710868
NM_000135.4(FANCA):c.3934+2T>C	rs771775516
NM_000135.4(FANCA):c.3935-1G>T	rs1555533693
NM_000135.4(FANCA):c.401dup (p.Val135fs)	rs1555575253
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs)	rs747892390
NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr)	rs1555533313
NM_000135.4(FANCA):c.4260+1dup	rs1555532944
NM_000135.4(FANCA):c.4261-2A>C	rs915983602
NM_000135.4(FANCA):c.549G>A (p.Trp183Ter)	rs758528624
NM_000135.4(FANCA):c.709+2T>C	rs1555571116
NM_000135.4(FANCA):c.710-1G>C	rs1388128874
NM_000135.4(FANCA):c.79+1G>C	rs1483028018
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs)	rs1348367722
NM_000135.4(FANCA):c.916_917del (p.Thr306fs)	rs764122657
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.1069C>T (p.Gln357Ter)	rs759900071
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter)	rs1057516298
NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs)	rs730881710
NM_000136.3(FANCC):c.165+1G>T	rs794726668
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)	rs370974124
NM_000136.3(FANCC):c.455dup (p.Asn152fs)	rs774170058
NM_000136.3(FANCC):c.487_490del (p.Glu163fs)	rs730881708
NM_000136.3(FANCC):c.489_490del (p.Asn164fs)	rs730881708
NM_000136.3(FANCC):c.996+1G>A	rs370510954
NM_000137.4(FAH):c.1027G>A (p.Gly343Arg)	rs970505762
NM_000137.4(FAH):c.1063-2A>G	rs1555442385
NM_000137.4(FAH):c.107T>C (p.Ile36Thr)	rs774648934
NM_000137.4(FAH):c.1156G>C (p.Asp386His)	rs1555442402
NM_000137.4(FAH):c.14del (p.Pro5fs)	rs1057517341
NM_000137.4(FAH):c.315-2A>G	rs1555440603
NM_000137.4(FAH):c.401C>A (p.Ala134Asp)	rs121965074
NM_000137.4(FAH):c.455G>A (p.Trp152Ter)	rs1057516679
NM_000137.4(FAH):c.456G>A (p.Trp152Ter)	rs370686447
NM_000137.4(FAH):c.607-1G>A	rs771712041
NM_000137.4(FAH):c.607-6T>G	rs80338896
NM_000137.4(FAH):c.615del (p.Phe205fs)	rs1057517084
NM_000137.4(FAH):c.700T>G (p.Trp234Gly)	rs1555441595
NM_000137.4(FAH):c.707-7_707-5del	rs779284513
NM_000137.4(FAH):c.744del (p.Pro249fs)	rs750741137
NM_000137.4(FAH):c.780_781del (p.Pro261fs)	rs1057517436
NM_000137.4(FAH):c.82-1G>A	rs1247460110
NM_000137.4(FAH):c.974C>T (p.Thr325Met)	rs770713168
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe)	rs367727229
NM_000151.4(G6PC1):c.136del (p.Leu46fs)	rs1057517227
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs)	rs1057516674
NM_000151.4(G6PC1):c.258G>A (p.Trp86Ter)	rs142917638
NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu)	rs1189630738
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala)	rs104894571
NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter)	rs1555559991
NM_000151.4(G6PC1):c.560C>G (p.Ser187Ter)	rs1485038937
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser)	rs80356482
NM_000151.4(G6PC1):c.646C>T (p.Leu216=)	rs749665480
NM_000151.4(G6PC1):c.674T>C (p.Leu225Pro)	rs1555560128
NM_000151.4(G6PC1):c.792C>A (p.Asn264Lys)	rs1555560149
NM_000151.4(G6PC1):c.79C>T (p.Gln27Ter)	rs1057516367
NM_000151.4(G6PC1):c.858del (p.Lys287fs)	rs1057516858
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter)	rs780226142
NM_000151.4(G6PC1):c.980_982del (p.Phe327del)	rs80356486
NM_000152.5(GAA):c.1051del (p.Val351fs)	rs786204507
NM_000152.5(GAA):c.1076-1G>A	rs1555600050
NM_000152.5(GAA):c.1076-2A>G	rs1057516290
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)	rs1555600061
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)	rs142752477
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs)	rs786204646
NM_000152.5(GAA):c.1143del (p.Ala382fs)	rs757458607
NM_000152.5(GAA):c.1156C>T (p.Gln386Ter)	rs786204517
NM_000152.5(GAA):c.1165del (p.Glu389fs)	rs1555600111
NM_000152.5(GAA):c.1192dup (p.Leu398fs)	rs1057516546
NM_000152.5(GAA):c.1193del (p.Leu398fs)	rs1057517286
NM_000152.5(GAA):c.1195-1G>A	rs1555600166
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn)	rs1555600179
NM_000152.5(GAA):c.1280T>C (p.Met427Thr)	rs1555600212
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn)	rs535644999
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg)	rs778068209
NM_000152.5(GAA):c.1437+1G>A	rs1555600575
NM_000152.5(GAA):c.1438-1G>C	rs147804176
NM_000152.5(GAA):c.1438-2A>G	rs1555600730
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn)	rs398123169
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter)	rs766680292
NM_000152.5(GAA):c.1552-2A>G	rs1555600846
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala)	rs892129065
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)	rs747150965
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter)	rs1057516426
NM_000152.5(GAA):c.169C>T (p.Gln57Ter)	rs1057516251
NM_000152.5(GAA):c.1784C>T (p.Pro595Leu)	rs763772240
NM_000152.5(GAA):c.1824_1828dup (p.Ala610fs)	rs1057516826
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)	rs1057517105
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.1933G>T (p.Asp645Tyr)	rs368438393
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)	rs759518659
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del)	rs786204621
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs)	rs1555601780
NM_000152.5(GAA):c.2140del (p.His714fs)	rs786204549
NM_000152.5(GAA):c.2185del (p.Leu729fs)	rs1057516581
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter)	rs1057516327
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter)	rs1057516328
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter)	rs1057516277
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)	rs1479740763
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.2242G>T (p.Glu748Ter)	rs1057516363
NM_000152.5(GAA):c.2242del (p.Glu748fs)	rs777275355
NM_000152.5(GAA):c.2242dup (p.Glu748fs)	rs777275355
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs)	rs1057516924
NM_000152.5(GAA):c.2300del (p.Phe767fs)	rs1555602692
NM_000152.5(GAA):c.2314T>C (p.Trp772Arg)	rs1555602703
NM_000152.5(GAA):c.2367dup (p.Pro790fs)	rs1555602860
NM_000152.5(GAA):c.241C>T (p.Gln81Ter)	rs1555598687
NM_000152.5(GAA):c.2482-5T>C	rs1290870969
NM_000152.5(GAA):c.2495_2496del (p.Thr832fs)	rs1057516704
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs)	rs886043343
NM_000152.5(GAA):c.258del (p.Asn87fs)	rs761317813
NM_000152.5(GAA):c.2646+2T>A	rs786204561
NM_000152.5(GAA):c.2647-20T>G	rs1555603208
NM_000152.5(GAA):c.2647-23del	rs749000061
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter)	rs1057516341
NM_000152.5(GAA):c.2799+2C>A	rs1555603318
NM_000152.5(GAA):c.2815_2816del (p.Val939fs)	rs763359208
NM_000152.5(GAA):c.281_282del (p.Pro94fs)	rs1057516503
NM_000152.5(GAA):c.343C>T (p.Gln115Ter)	rs786204614
NM_000152.5(GAA):c.352C>T (p.Gln118Ter)	rs1555598800
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del)	rs1555598888
NM_000152.5(GAA):c.471del (p.Thr158fs)	rs1057517320
NM_000152.5(GAA):c.525_526del (p.Asn177fs)	rs767882689
NM_000152.5(GAA):c.546+5G>T	rs756024023
NM_000152.5(GAA):c.546G>T (p.Thr182=)	rs143523371
NM_000152.5(GAA):c.569G>A (p.Arg190His)	rs528367092
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter)	rs376229714
NM_000152.5(GAA):c.692+2T>C	rs1555599171
NM_000152.5(GAA):c.710C>T (p.Ala237Val)	rs121907944
NM_000152.5(GAA):c.711_712dup (p.Pro238fs)	rs1555599586
NM_000152.5(GAA):c.716del (p.Leu239fs)	rs1555599594
NM_000152.5(GAA):c.736del (p.Leu246fs)	rs886043920
NM_000152.5(GAA):c.755dup (p.Pro253fs)	rs1555599619
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs)	rs786204532
NM_000152.5(GAA):c.768dup (p.Ile257fs)	rs1555599644
NM_000152.5(GAA):c.953T>A (p.Met318Lys)	rs121907936
NM_000153.4(GALC):c.1012del (p.Glu338fs)	rs1057516469
NM_000153.4(GALC):c.1021del (p.Val341fs)	rs1057517382
NM_000153.4(GALC):c.1273del (p.Val425fs)	rs1057516394
NM_000153.4(GALC):c.129C>A (p.Tyr43Ter)	rs1057516816
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn)	rs202135871
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys)	rs794727116
NM_000153.4(GALC):c.155del (p.Gly52fs)	rs1064793131
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg)	rs748573754
NM_000153.4(GALC):c.1712dup (p.Pro571_Asp572insTer)	rs1555378701
NM_000153.4(GALC):c.1835-1G>A	rs1555378562
NM_000153.4(GALC):c.1851del (p.Ile616_Tyr617insTer)	rs1057516433
NM_000153.4(GALC):c.1884dup (p.Trp629fs)	rs1336726861
NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter)	rs1057516453
NM_000153.4(GALC):c.1896_1900del (p.Thr633fs)	rs749708827
NM_000153.4(GALC):c.1901del (p.Thr633_Leu634insTer)	rs1555378534
NM_000153.4(GALC):c.1911+1_1911+5del	rs777955784
NM_000153.4(GALC):c.203C>T (p.Ser68Phe)	rs1555383892
NM_000153.4(GALC):c.387C>G (p.Tyr129Ter)	rs1240965365
NM_000153.4(GALC):c.411_413del (p.Lys139del)	rs1555383687
NM_000153.4(GALC):c.433dup (p.Thr145fs)	rs1555383679
NM_000153.4(GALC):c.467_468dup (p.Leu157fs)	rs1057517185
NM_000153.4(GALC):c.521del (p.Tyr174fs)	rs1555383517
NM_000153.4(GALC):c.533G>A (p.Trp178Ter)	rs968905231
NM_000153.4(GALC):c.583-1G>C	rs1555383310
NM_000153.4(GALC):c.599C>A (p.Ser200Ter)	rs786204618
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.7dup (p.Glu3fs)	rs1555384381
NM_000153.4(GALC):c.908+1G>T	rs750524447
NM_000153.4(GALC):c.946C>T (p.Gln316Ter)	rs776368825
NM_000153.4(GALC):c.952C>G (p.Pro318Ala)	rs1057516642
NM_000153.4(GALC):c.955del (p.Tyr319fs)	rs786204454
NM_000153.4(GALC):c.972del (p.Leu324_Met325insTer)	rs1057516808
NM_000154.2(GALK1):c.1012dup (p.Val338fs)	rs1555747776
NM_000154.2(GALK1):c.102_103dup (p.Pro35fs)	rs771067891
NM_000154.2(GALK1):c.130C>T (p.His44Tyr)	rs1555748926
NM_000154.2(GALK1):c.410del (p.Gly137fs)	rs767329054
NM_000154.2(GALK1):c.410dup (p.Gly138fs)	rs767329054
NM_000154.2(GALK1):c.853_874del (p.Ile285fs)	rs770087254
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn)	rs111033836
NM_000155.4(GALT):c.1048del (p.Thr350fs)	rs775762045
NM_000155.4(GALT):c.1052del (p.Pro351fs)	rs111033813
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter)	rs111033818
NM_000155.4(GALT):c.1140A>C (p.Ter380Cys)	rs111033827
NM_000155.4(GALT):c.152G>A (p.Arg51Gln)	rs111033648
NM_000155.4(GALT):c.18del (p.Asp7fs)	rs111033638
NM_000155.4(GALT):c.238C>T (p.Arg80Ter)	rs111033664
NM_000155.4(GALT):c.394C>T (p.His132Tyr)	rs111033688
NM_000155.4(GALT):c.404C>G (p.Ser135Trp)	rs111033690
NM_000155.4(GALT):c.41delinsTT (p.Ala14fs)	rs111033634
NM_000155.4(GALT):c.450T>A (p.Val150=)	rs886063884
NM_000155.4(GALT):c.452T>C (p.Val151Ala)	rs111033701
NM_000155.4(GALT):c.502G>A (p.Val168Met)	rs367543258
NM_000155.4(GALT):c.502G>T (p.Val168Leu)	rs367543258
NM_000155.4(GALT):c.508-29del	rs111033711
NM_000155.4(GALT):c.547C>A (p.Pro183Thr)	rs111033721
NM_000155.4(GALT):c.552C>A (p.His184Gln)	rs111033717
NM_000155.4(GALT):c.554C>T (p.Pro185Leu)	rs111033722
NM_000155.4(GALT):c.564+1G>A	rs111033723
NM_000155.4(GALT):c.619C>T (p.Gln207Ter)	rs111033743
NM_000155.4(GALT):c.627T>A (p.Tyr209Ter)	rs1057516720
NM_000155.4(GALT):c.634C>T (p.Gln212Ter)	rs111033746
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer)	rs111033742
NM_000155.4(GALT):c.761dup (p.Leu255fs)	rs747036550
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)	rs886042070
NM_000155.4(GALT):c.815G>A (p.Arg272His)	rs111033831
NM_000155.4(GALT):c.820+13A>G	rs111033768
NM_000155.4(GALT):c.912dup (p.Thr305fs)	rs746285782
NM_000155.4(GALT):c.957C>A (p.His319Gln)	rs111033792
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)	rs111033800
NM_000159.4(GCDH):c.1115G>A (p.Arg372Lys)	rs1555751240
NM_000159.4(GCDH):c.1169G>T (p.Gly390Val)	rs778153326
NM_000159.4(GCDH):c.1173del (p.Asn392fs)	rs754002357
NM_000159.4(GCDH):c.1173dup (p.Asn392fs)	rs754002357
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln)	rs786204626
NM_000159.4(GCDH):c.1220T>C (p.Leu407Pro)	rs1555751379
NM_000159.4(GCDH):c.1239C>A (p.Tyr413Ter)	rs776082304
NM_000159.4(GCDH):c.1244-2A>G	rs199999619
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met)	rs745360675
NM_000159.4(GCDH):c.172G>T (p.Glu58Ter)	rs1006150317
NM_000159.4(GCDH):c.192G>T (p.Glu64Asp)	rs1555749239
NM_000159.4(GCDH):c.219del (p.Tyr74fs)	rs1057516521
NM_000159.4(GCDH):c.271+1G>A	rs786204639
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)	rs566417795
NM_000159.4(GCDH):c.301G>A (p.Gly101Arg)	rs1273164833
NM_000159.4(GCDH):c.329_332del (p.Ile110fs)	rs1555749434
NM_000159.4(GCDH):c.334G>T (p.Gly112Ter)	rs758137643
NM_000159.4(GCDH):c.337T>C (p.Tyr113His)	rs1555749853
NM_000159.4(GCDH):c.397G>T (p.Val133Leu)	rs746388510
NM_000159.4(GCDH):c.416C>G (p.Ser139Trp)	rs139851890
NM_000159.4(GCDH):c.437C>A (p.Ser146Tyr)	rs1555749927
NM_000159.4(GCDH):c.514G>T (p.Glu172Ter)	rs1057516715
NM_000159.4(GCDH):c.533G>A (p.Gly178Glu)	rs786204627
NM_000159.4(GCDH):c.640A>G (p.Thr214Ala)	rs1468636851
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter)	rs786205862
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp)	rs964724051
NM_000159.4(GCDH):c.79del (p.Ala27fs)	rs1057516939
NM_000159.4(GCDH):c.853-2A>G	rs1057517410
NM_000159.4(GCDH):c.873del (p.Asn291fs)	rs1057517407
NM_000170.3(GLDC):c.1054del (p.Thr352fs)	rs386833518
NM_000170.3(GLDC):c.1484_1489del	rs778109389
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)	rs121964976
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del)	rs769625871
NM_000170.3(GLDC):c.2203-2A>G	rs386833545
NM_000170.3(GLDC):c.2527C>T (p.Arg843Ter)	rs1554643360
NM_000170.3(GLDC):c.2578G>C (p.Gly860Arg)	rs753759723
NM_000170.3(GLDC):c.2962C>T (p.Arg988Trp)	rs1288008254
NM_000179.3(MSH6):c.125_132dup (p.Gly45fs)	rs1553408245
NM_000179.3(MSH6):c.1560T>C (p.Gly520=)	rs762396230
NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter)	rs864622153
NM_000179.3(MSH6):c.1786T>A (p.Phe596Ile)	rs587779918
NM_000179.3(MSH6):c.1847C>G (p.Ser616Cys)	rs772363120
NM_000179.3(MSH6):c.215_258del (p.Leu72fs)	rs1553408380
NM_000179.3(MSH6):c.2187C>T (p.Ala729=)	rs375610656
NM_000179.3(MSH6):c.2194C>A (p.Arg732=)	rs63751127
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile)	rs587781462
NM_000179.3(MSH6):c.255C>A (p.Pro85=)	rs587779242
NM_000179.3(MSH6):c.2832_2833del (p.Ile944fs)	rs730881827
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del)	rs267608073
NM_000179.3(MSH6):c.309C>A (p.Tyr103Ter)	rs1553410230
NM_000179.3(MSH6):c.3111C>A (p.Phe1037Leu)	rs587781673
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile)	rs576269342
NM_000179.3(MSH6):c.3173-10_3173-6del	rs781520783
NM_000179.3(MSH6):c.3173-18T>C	rs189672273
NM_000179.3(MSH6):c.3215_3222del (p.Gly1072fs)	rs1057517552
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=)	rs3136351
NM_000179.3(MSH6):c.3246G>C (p.Pro1082=)	rs3136351
NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala)	rs63750998
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)	rs267608078
NM_000179.3(MSH6):c.3371dup (p.Asn1124fs)	rs1553331659
NM_000179.3(MSH6):c.3439-2A>G	rs267608098
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe)	rs376799914
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His)	rs63750119
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs)	rs876661222
NM_000179.3(MSH6):c.3757_3767del (p.Val1253fs)	rs1553333093
NM_000179.3(MSH6):c.3758T>C (p.Val1253Ala)	rs202066386
NM_000179.3(MSH6):c.3792A>C (p.Leu1264=)	rs786202051
NM_000179.3(MSH6):c.3802-8T>G	rs864622195
NM_000179.3(MSH6):c.3836G>A (p.Ser1279Asn)	rs864622400
NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs)	rs63751319
NM_000179.3(MSH6):c.3852G>T (p.Thr1284=)	rs2229018
NM_000179.3(MSH6):c.4001+4_4001+8dup	rs587782853
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)	rs267608122
NM_000179.3(MSH6):c.4002-11_4002-10delinsA	rs1553333946
NM_000179.3(MSH6):c.4083GACT[3] (p.Ter1361=)	rs765313977
NM_000179.3(MSH6):c.457+32TG[12]	rs397839804
NM_000179.3(MSH6):c.741dup (p.Arg248fs)	rs267608041
NM_000179.3(MSH6):c.905G>C (p.Arg302Thr)	rs587781510
NM_000179.3(MSH6):c.908dup (p.Met303fs)	rs1057517551
NM_000182.5(HADHA):c.1086-3_1092del	rs1057516460
NM_000182.5(HADHA):c.1493A>G (p.His498Arg)	rs752005568
NM_000182.5(HADHA):c.1712T>C (p.Leu571Pro)	rs1553312058
NM_000182.5(HADHA):c.1811del (p.Gly604fs)	rs747985669
NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer)	rs779113356
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs)	rs749848370
NM_000182.5(HADHA):c.2146+1G>A	rs794727219
NM_000182.5(HADHA):c.2220T>A (p.Tyr740Ter)	rs142120825
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.800-1G>T	rs1553314024
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn)	rs137852774
NM_000187.4(HGD):c.1081G>A (p.Gly361Arg)	rs765219004
NM_000187.4(HGD):c.1188+1G>T	rs760206323
NM_000187.4(HGD):c.1201G>C (p.Glu401Gln)	rs767159114
NM_000187.4(HGD):c.179G>A (p.Trp60Ter)	rs1057516467
NM_000187.4(HGD):c.31_32delinsATT (p.Gly11fs)	rs1057516362
NM_000187.4(HGD):c.342+1G>A	rs397515518
NM_000187.4(HGD):c.346del (p.Leu116fs)	rs1057516911
NM_000187.4(HGD):c.376_377del (p.Lys126fs)	rs1057516976
NM_000187.4(HGD):c.3G>C (p.Met1Ile)	rs1057516355
NM_000187.4(HGD):c.455G>C (p.Gly152Ala)	rs1553717936
NM_000187.4(HGD):c.559C>G (p.Arg187Gly)	rs756255206
NM_000187.4(HGD):c.649+2T>C	rs1057516307
NM_000187.4(HGD):c.652del	rs786204662
NM_000187.4(HGD):c.970dup (p.Val324fs)	rs34214309
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs)	rs752137615
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter)	rs890995574
NM_000191.3(HMGCL):c.286del (p.Gln96fs)	rs1184002840
NM_000191.3(HMGCL):c.528T>A (p.Tyr176Ter)	rs112508527
NM_000191.3(HMGCL):c.825C>G (p.Asn275Lys)	rs1287973337
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)	rs786205431
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg)	rs398123244
NM_000199.5(SGSH):c.1241_1244dup (p.Thr416fs)	rs1412408576
NM_000199.5(SGSH):c.1308G>A (p.Trp436Ter)	rs1555620141
NM_000199.5(SGSH):c.1380del (p.Leu461fs)	rs1555620092
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg)	rs1131691434
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg)	rs774010006
NM_000199.5(SGSH):c.356-1G>A	rs1555621984
NM_000199.5(SGSH):c.437T>C (p.Leu146Pro)	rs749358773
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro)	rs104894643
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu)	rs34520362
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala)	rs758756630
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp)	rs199422231
NM_000203.5(IDUA):c.590G>A (p.Gly197Asp)	rs770087890
NM_000228.3(LAMB3):c.2842del (p.Val948fs)	rs772421306
NM_000228.3(LAMB3):c.3119G>A (p.Trp1040Ter)	rs1057516759
NM_000231.3(SGCG):c.195+4_195+7del	rs797045106
NM_000231.3(SGCG):c.579-2A>G	rs754415994
NM_000231.3(SGCG):c.702+1G>A	rs1555248000
NM_000231.3(SGCG):c.727_728del (p.Cys243fs)	rs758078849
NM_000231.3(SGCG):c.768del (p.Ser257fs)	rs1199421806
NM_000231.3(SGCG):c.800_801del (p.Cys267fs)	rs780348174
NM_000232.5(SGCB):c.243+3_243+6del	rs1553940660
NM_000232.5(SGCB):c.299T>A (p.Met100Lys)	rs104893871
NM_000232.5(SGCB):c.29_33del (p.Glu10fs)	rs1057517064
NM_000232.5(SGCB):c.551_552del (p.Asp183_Tyr184insTer)	rs1057517051
NM_000232.5(SGCB):c.552T>G (p.Tyr184Ter)	rs104893868
NM_000232.5(SGCB):c.595_598del (p.Asn199fs)	rs762114570
NM_000232.5(SGCB):c.650del (p.Asn217fs)	rs1553940079
NM_000232.5(SGCB):c.656_657del (p.Lys219fs)	rs775458201
NM_000232.5(SGCB):c.699_702del (p.Phe233fs)	rs1057516515
NM_000235.4(LIPA):c.594dup (p.Ala199fs)	rs780495201
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)	rs28940580
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)	rs104895093
NM_000249.4(MLH1):c.-107C>G	rs587778886
NM_000249.4(MLH1):c.1136A>G (p.Tyr379Cys)	rs143009528
NM_000249.4(MLH1):c.1210C>T (p.Leu404=)	rs1057517538
NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter)	rs1057517541
NM_000249.4(MLH1):c.1266C>T (p.Gly422=)	rs63750791
NM_000249.4(MLH1):c.1268G>A (p.Arg423Lys)	rs370687064
NM_000249.4(MLH1):c.1297G>T (p.Glu433Ter)	rs63750443
NM_000249.4(MLH1):c.1378G>T (p.Glu460Ter)	rs756843954
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly)	rs147939838
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)	rs63749795
NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg)	rs63750226
NM_000249.4(MLH1):c.1559-11T>C	rs730881750
NM_000249.4(MLH1):c.1572G>T (p.Met524Ile)	rs587779953
NM_000249.4(MLH1):c.1731+1G>T	rs267607853
NM_000249.4(MLH1):c.1853A>G (p.Lys618Arg)	rs63750449
NM_000249.4(MLH1):c.1897-2A>G	rs267607871
NM_000249.4(MLH1):c.18G>A (p.Gly6=)	rs786202312
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)	rs63750206
NM_000249.4(MLH1):c.2040C>T (p.Cys680=)	rs63749867
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)	rs63750217
NM_000249.4(MLH1):c.2088C>G (p.Thr696=)	rs1060504015
NM_000249.4(MLH1):c.283del (p.Ser95fs)	rs1064795441
NM_000249.4(MLH1):c.290A>G (p.Tyr97Cys)	rs773647920
NM_000249.4(MLH1):c.325del (p.His109fs)	rs1553641273
NM_000249.4(MLH1):c.589-6T>G	rs781244266
NM_000249.4(MLH1):c.677+1G>A	rs267607778
NM_000249.4(MLH1):c.705T>C (p.Asp235=)	rs876658869
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)	rs63751194
NM_000249.4(MLH1):c.84del (p.Ala29fs)	rs587779045
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys)	rs63749994
NM_000249.4(MLH1):c.927C>T (p.Pro309=)	rs63749896
NM_000251.3(MSH2):c.1046C>G (p.Pro349Arg)	rs587779067
NM_000251.3(MSH2):c.108T>C (p.Leu36=)	rs876659034
NM_000251.3(MSH2):c.1276+2T>C	rs267607953
NM_000251.3(MSH2):c.160G>T (p.Ala54Ser)	rs749212640
NM_000251.3(MSH2):c.1661+17T>G	rs377461923
NM_000251.3(MSH2):c.1706A>G (p.Glu569Gly)	rs786201077
NM_000251.3(MSH2):c.182A>C (p.Gln61Pro)	rs587779113
NM_000251.3(MSH2):c.2005+8dup	rs267607992
NM_000251.3(MSH2):c.2139G>T (p.Gly713=)	rs63750003
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del)	rs587781278
NM_000251.3(MSH2):c.2726A>T (p.Lys909Ile)	rs34319539
NM_000251.3(MSH2):c.354T>G (p.Tyr118Ter)	rs1553350250
NM_000251.3(MSH2):c.403C>T (p.Leu135Phe)	rs193096019
NM_000251.3(MSH2):c.606C>T (p.Pro202=)	rs63750600
NM_000251.3(MSH2):c.6G>T (p.Ala2=)	rs368270856
NM_000251.3(MSH2):c.806C>A (p.Ser269Ter)	rs63750058
NM_000251.3(MSH2):c.89C>T (p.Pro30Leu)	rs757892928
NM_000251.3(MSH2):c.943-2A>G	rs587779198
NM_000251.3(MSH2):c.965G>T (p.Gly322Val)	rs4987188
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)	rs63750828
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del)	rs765373403
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs)	rs1554159950
NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter)	rs879253844
NM_000255.4(MMUT):c.1677-1G>C	rs754369323
NM_000255.4(MMUT):c.1777G>T (p.Glu593Ter)	rs148285323
NM_000255.4(MMUT):c.1956+2T>C	rs750619189
NM_000255.4(MMUT):c.312del (p.Trp105fs)	rs1064793768
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys)	rs121918258
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter)	rs1554160638
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr)	rs780387525
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=)	rs111033233
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs)	rs111033347
NM_000260.4(MYO7A):c.397dup (p.His133fs)	rs111033187
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro)	rs1385324903
NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys)	rs114625063
NM_000263.4(NAGLU):c.144C>G (p.Phe48Leu)	rs104894599
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu)	rs104894598
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter)	rs555145190
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys)	rs1364203992
NM_000263.4(NAGLU):c.2158C>T (p.Arg720Ter)	rs1555622589
NM_000263.4(NAGLU):c.2183AGA[1] (p.Lys729del)	rs1216052074
NM_000263.4(NAGLU):c.219_237del (p.Arg74fs)	rs1431589133
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg)	rs770684838
NM_000263.4(NAGLU):c.680A>C (p.His227Pro)	rs747155746
NM_000263.4(NAGLU):c.867del (p.Ile290fs)	rs1555622019
NM_000271.5(NPC1):c.1033_1034del (p.Phe345fs)	rs1057516950
NM_000271.5(NPC1):c.1133_1161del (p.Val378fs)	rs1555637164
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp)	rs1298238512
NM_000271.5(NPC1):c.1339C>T (p.Gln447Ter)	rs1057517077
NM_000271.5(NPC1):c.144_145insT (p.Lys49Ter)	rs1555642296
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln)	rs483352886
NM_000271.5(NPC1):c.1554-1009G>A	rs1055204017
NM_000271.5(NPC1):c.1711del (p.Tyr571fs)	rs1057517455
NM_000271.5(NPC1):c.1800del (p.Ile601fs)	rs483352879
NM_000271.5(NPC1):c.1836A>C (p.Glu612Asp)	rs1555634739
NM_000271.5(NPC1):c.1920del (p.His641fs)	rs886042270
NM_000271.5(NPC1):c.2072C>T (p.Pro691Leu)	rs1555634422
NM_000271.5(NPC1):c.2230_2231del (p.Val744fs)	rs483352882
NM_000271.5(NPC1):c.2365C>T (p.Arg789Cys)	rs1555633697
NM_000271.5(NPC1):c.2451_2454del (p.Leu817fs)	rs1555633637
NM_000271.5(NPC1):c.2597T>C (p.Met866Thr)	rs1181604094
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter)	rs780592540
NM_000271.5(NPC1):c.2683dup (p.Glu895fs)	rs1555633326
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter)	rs786204512
NM_000271.5(NPC1):c.2775del (p.Asn925fs)	rs1057516603
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn)	rs1261939149
NM_000271.5(NPC1):c.2965_2966del (p.Arg989fs)	rs1555632977
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.2978dup (p.Asp994fs)	rs775915490
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val)	rs28942107
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro)	rs893564568
NM_000271.5(NPC1):c.3265G>A (p.Glu1089Lys)	rs374526072
NM_000271.5(NPC1):c.3325del (p.Ile1109fs)	rs1057517149
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr)	rs778878523
NM_000271.5(NPC1):c.3450C>A (p.Asn1150Lys)	rs34715591
NM_000271.5(NPC1):c.3467A>T (p.Asn1156Ile)	rs28942105
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys)	rs1555632003
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr)	rs1555631998
NM_000271.5(NPC1):c.3591+2T>C	rs1555631888
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs)	rs1064794009
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs)	rs774943545
NM_000271.5(NPC1):c.3754+3A>C	rs1208252513
NM_000271.5(NPC1):c.395del (p.Pro132fs)	rs1057516462
NM_000271.5(NPC1):c.3G>A (p.Met1Ile)	rs1555645630
NM_000271.5(NPC1):c.433C>T (p.Gln145Ter)	rs1057516749
NM_000271.5(NPC1):c.451_452del (p.Ser151fs)	rs749012588
NM_000271.5(NPC1):c.57+4A>G	rs1057519229
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del)	rs758687942
NM_000271.5(NPC1):c.810CAT[1] (p.Ile271del)	rs1243863645
NM_000271.5(NPC1):c.839del (p.Leu280fs)	rs1057518711
NM_000271.5(NPC1):c.852dup (p.Gly285fs)	rs762124334
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs)	rs886044580
NM_000274.4(OAT):c.159del (p.His53fs)	rs386833599
NM_000277.3(PAH):c.1065+1G>A	rs62516147
NM_000277.3(PAH):c.1069T>C (p.Cys357Arg)	rs62508595
NM_000277.3(PAH):c.1089G>T (p.Lys363Asn)	rs63329263
NM_000277.3(PAH):c.1089del (p.Lys363fs)	rs5030654
NM_000277.3(PAH):c.1097C>A (p.Pro366His)	rs62516098
NM_000277.3(PAH):c.1114A>T (p.Thr372Ser)	rs62517163
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del)	rs199475565
NM_000277.3(PAH):c.1144T>C (p.Phe382Leu)	rs1555203681
NM_000277.3(PAH):c.1147C>T (p.Gln383Ter)	rs1037293795
NM_000277.3(PAH):c.1166del (p.Ala389fs)	rs62506949
NM_000277.3(PAH):c.1171_1172del (p.Ser391fs)	rs1429055740
NM_000277.3(PAH):c.1198A>C (p.Arg400=)	rs199475593
NM_000277.3(PAH):c.1199+1G>A	rs62509015
NM_000277.3(PAH):c.1199+1G>C	rs62509015
NM_000277.3(PAH):c.1200-8G>A	rs62507261
NM_000277.3(PAH):c.1209del (p.Ala404fs)	rs1555203401
NM_000277.3(PAH):c.1219C>T (p.Pro407Ser)	rs62644465
NM_000277.3(PAH):c.1229T>C (p.Phe410Ser)	rs62644475
NM_000277.3(PAH):c.1247C>A (p.Pro416Gln)	rs1445893088
NM_000277.3(PAH):c.124_126del (p.Lys42del)	rs1555209578
NM_000277.3(PAH):c.125AAG[2] (p.Glu44del)	rs199475628
NM_000277.3(PAH):c.127G>T (p.Glu43Ter)	rs1555209575
NM_000277.3(PAH):c.1282C>T (p.Gln428Ter)	rs567261857
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp)	rs199475659
NM_000277.3(PAH):c.1314_1315+4del	rs1334974448
NM_000277.3(PAH):c.1315+4A>G	rs62508649
NM_000277.3(PAH):c.1315+6T>A	rs62508650
NM_000277.3(PAH):c.168+5G>A	rs62507288
NM_000277.3(PAH):c.168_168+1delinsAA	rs786204457
NM_000277.3(PAH):c.227A>G (p.Glu76Gly)	rs62507347
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del)	rs62508727
NM_000277.3(PAH):c.301G>A (p.Asp101Asn)	rs1555207979
NM_000277.3(PAH):c.307G>A (p.Gly103Ser)	rs752792040
NM_000277.3(PAH):c.329del (p.Ser110fs)	rs1057516389
NM_000277.3(PAH):c.353-7_353-5dup	rs1452763334
NM_000277.3(PAH):c.357del (p.Trp120fs)	rs794727619
NM_000277.3(PAH):c.400C>T (p.Gln134Ter)	rs199475680
NM_000277.3(PAH):c.439C>T (p.Pro147Ser)	rs199475624
NM_000277.3(PAH):c.440C>T (p.Pro147Leu)	rs199475694
NM_000277.3(PAH):c.441+1G>C	rs62517166
NM_000277.3(PAH):c.441+3G>C	rs62508642
NM_000277.3(PAH):c.442-2A>C	rs281865448
NM_000277.3(PAH):c.443G>T (p.Gly148Val)	rs1555205655
NM_000277.3(PAH):c.464G>C (p.Arg155Pro)	rs199475663
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer)	rs62642906
NM_000277.3(PAH):c.482T>C (p.Phe161Ser)	rs79635844
NM_000277.3(PAH):c.493G>C (p.Ala165Pro)	rs199475626
NM_000277.3(PAH):c.500A>T (p.Asn167Ile)	rs77554925
NM_000277.3(PAH):c.505C>G (p.Arg169Gly)	rs281865440
NM_000277.3(PAH):c.510-2A>G	rs1555204750
NM_000277.3(PAH):c.523C>T (p.Pro175Ser)	rs199475604
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.556del (p.Thr186fs)	rs62507328
NM_000277.3(PAH):c.561G>C (p.Trp187Cys)	rs62507336
NM_000277.3(PAH):c.563G>A (p.Gly188Asp)	rs199475689
NM_000277.3(PAH):c.580_581del (p.Leu194fs)	rs62508587
NM_000277.3(PAH):c.58C>T (p.Gln20Ter)	rs199475585
NM_000277.3(PAH):c.592_613del (p.Tyr198fs)	rs199475697
NM_000277.3(PAH):c.610dup (p.Tyr204fs)	rs1555204711
NM_000277.3(PAH):c.617A>G (p.Tyr206Cys)	rs62508728
NM_000277.3(PAH):c.620A>G (p.Asn207Ser)	rs62508721
NM_000277.3(PAH):c.632C>T (p.Pro211Leu)	rs281865443
NM_000277.3(PAH):c.649T>C (p.Cys217Arg)	rs62508718
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer)	rs62514936
NM_000277.3(PAH):c.668A>T (p.Asn223Ile)	rs201245932
NM_000277.3(PAH):c.722del (p.Arg241fs)	rs199475657
NM_000277.3(PAH):c.724C>T (p.Leu242Phe)	rs199475578
NM_000277.3(PAH):c.733G>C (p.Val245Leu)	rs62508694
NM_000277.3(PAH):c.739G>C (p.Gly247Arg)	rs62508731
NM_000277.3(PAH):c.740G>T (p.Gly247Val)	rs199475579
NM_000277.3(PAH):c.745del (p.Leu249fs)	rs1057516914
NM_000277.3(PAH):c.754C>G (p.Arg252Gly)	rs5030847
NM_000277.3(PAH):c.764T>C (p.Leu255Ser)	rs62642930
NM_000277.3(PAH):c.770G>T (p.Gly257Val)	rs62642908
NM_000277.3(PAH):c.782G>C (p.Arg261Pro)	rs5030849
NM_000277.3(PAH):c.800A>G (p.Gln267Arg)	rs778154939
NM_000277.3(PAH):c.823C>T (p.Pro275Ser)	rs62508691
NM_000277.3(PAH):c.824C>G (p.Pro275Arg)	rs62508715
NM_000277.3(PAH):c.824C>T (p.Pro275Leu)	rs62508715
NM_000277.3(PAH):c.826A>G (p.Met276Val)	rs62516149
NM_000277.3(PAH):c.833C>A (p.Thr278Asn)	rs62507262
NM_000277.3(PAH):c.870T>G (p.His290Gln)	rs751203209
NM_000277.3(PAH):c.899C>T (p.Ala300Val)	rs199475609
NM_000277.3(PAH):c.910C>T (p.Gln304Ter)	rs1555204295
NM_000277.3(PAH):c.912G>A (p.Gln304=)	rs199475583
NM_000277.3(PAH):c.913-2A>C	rs1555203951
NM_000277.3(PAH):c.926C>A (p.Ala309Asp)	rs62642935
NM_000277.3(PAH):c.940C>A (p.Pro314Thr)	rs199475650
NM_000277.3(PAH):c.960G>C (p.Lys320Asn)	rs199475615
NM_000277.3(PAH):c.992T>C (p.Phe331Ser)	rs199475614
NM_000282.4(PCCA):c.1209+3A>G	rs1467680142
NM_000282.4(PCCA):c.1643+1_1643+2dup	rs1555425626
NM_000282.4(PCCA):c.183+2T>C	rs1555342593
NM_000282.4(PCCA):c.183+4_183+7del	rs1555342581
NM_000282.4(PCCA):c.2027del (p.Lys676fs)	rs1555327702
NM_000282.4(PCCA):c.2040G>A (p.Ala680=)	rs369982920
NM_000282.4(PCCA):c.2103del (p.Thr704fs)	rs1555331314
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs)	rs749875940
NM_000282.4(PCCA):c.432A>G (p.Gly144=)	rs768756825
NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer)	rs1555361758
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp)	rs1555396108
NM_000282.4(PCCA):c.69_78del (p.Gln23fs)	rs781030239
NM_000282.4(PCCA):c.722del (p.Gly241fs)	rs745571507
NM_000282.4(PCCA):c.843del (p.Asn281fs)	rs1555400381
NM_000282.4(PCCA):c.915-1G>C	rs367615795
NM_000286.3(PEX12):c.268_271del (p.Lys90fs)	rs61752100
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter)	rs61752106
NM_000286.3(PEX12):c.684_687del (p.Ser229fs)	rs62642859
NM_000287.4(PEX6):c.1238G>T (p.Gly413Val)	rs1554127531
NM_000287.4(PEX6):c.1440TGC[2] (p.Ala483del)	rs1554127389
NM_000287.4(PEX6):c.311del (p.Gly104fs)	rs61753209
NM_000287.4(PEX6):c.654C>G (p.Phe218Leu)	rs886037779
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs)	rs62636519
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter)	rs121909153
NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs)	rs764325655
NM_000295.5(SERPINA1):c.514G>A (p.Gly172Arg)	rs112030253
NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter)	rs864622051
NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter)	rs199422210
NM_000303.3(PMM2):c.131T>C (p.Val44Ala)	rs104894534
NM_000303.3(PMM2):c.190del (p.Tyr64fs)	rs1339004837
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.256-2A>G	rs1057516372
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr)	rs104894532
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe)	rs387906824
NM_000303.3(PMM2):c.324del (p.Ile110fs)	rs1555449314
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr)	rs765433263
NM_000303.3(PMM2):c.385G>A (p.Val129Met)	rs104894525
NM_000303.3(PMM2):c.414del (p.Glu139fs)	rs755008774
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys)	rs80338703
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala)	rs958073558
NM_000303.3(PMM2):c.451_454del	rs1274794195
NM_000303.3(PMM2):c.511dup (p.Thr171fs)	rs1057516323
NM_000303.3(PMM2):c.550C>A (p.Pro184Thr)	rs1555449795
NM_000303.3(PMM2):c.617del (p.Phe206fs)	rs1555449810
NM_000303.3(PMM2):c.618C>A (p.Phe206Leu)	rs1460691341
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp)	rs758340382
NM_000303.3(PMM2):c.639+1G>A	rs1057517183
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser)	rs1555453238
NM_000303.3(PMM2):c.66+1del	rs1555495965
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter)	rs763091085
NM_000303.3(PMM2):c.710C>T (p.Thr237Met)	rs80338708
NM_000310.4(PPT1):c.169dup (p.Met57fs)	rs386833634
NM_000310.4(PPT1):c.184del (p.Ile62fs)	rs1057517192
NM_000310.4(PPT1):c.294_297dup (p.Ala100fs)	rs1057517049
NM_000310.4(PPT1):c.29_41dup (p.Leu15fs)	rs762226836
NM_000310.4(PPT1):c.338del (p.Gly113fs)	rs1553167474
NM_000310.4(PPT1):c.398del (p.Met133fs)	rs386833644
NM_000310.4(PPT1):c.433+1G>A	rs1553167415
NM_000310.4(PPT1):c.455del (p.Cys152fs)	rs886041568
NM_000310.4(PPT1):c.529C>T (p.Gln177Ter)	rs386833650
NM_000310.4(PPT1):c.541G>T (p.Val181Leu)	rs148412181
NM_000310.4(PPT1):c.653dup (p.Asn218fs)	rs1057516889
NM_000310.4(PPT1):c.721del (p.Ser241fs)	rs1553166499
NM_000310.4(PPT1):c.798+1G>T	rs878853929
NM_000310.4(PPT1):c.798+2T>C	rs1553166337
NM_000314.8(PTEN):c.*10del	rs756681683
NM_000314.8(PTEN):c.*10dup	rs756681683
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)	rs121909231
NM_000314.8(PTEN):c.165-24TTTG[2]	rs786204877
NM_000314.8(PTEN):c.210-7_210-3del	rs587780544
NM_000314.8(PTEN):c.300dup (p.Ile101fs)	rs1554898083
NM_000314.8(PTEN):c.304_308dup (p.Phe104fs)	rs1554898085
NM_000314.8(PTEN):c.493-12dup	rs756623620
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)	rs587782350
NM_000317.3(PTS):c.108C>G (p.Asn36Lys)	rs1449216377
NM_000317.3(PTS):c.164-7T>A	rs1555198232
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.26G>A (p.Arg9His)	rs1213277062
NM_000317.3(PTS):c.296A>G (p.Tyr99Cys)	rs1555198458
NM_000317.3(PTS):c.315-2A>G	rs1555198483
NM_000317.3(PTS):c.340A>G (p.Ile114Val)	rs1555198495
NM_000317.3(PTS):c.393del (p.Val132fs)	rs780332520
NM_000317.3(PTS):c.400G>T (p.Glu134Ter)	rs779681799
NM_000317.3(PTS):c.73C>G (p.Arg25Gly)	rs1167104933
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)	rs764771123
NM_000329.3(RPE65):c.1302G>A (p.Ala434=)	rs62636301
NM_000329.3(RPE65):c.1302G>C (p.Ala434=)	rs62636301
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser)	rs1553153135
NM_000330.4(RS1):c.266A>G (p.Tyr89Cys)	rs61752060
NM_000330.4(RS1):c.422G>A (p.Arg141His)	rs61752159
NM_000330.4(RS1):c.498C>A (p.Tyr166Ter)	rs1057516744
NM_000330.4(RS1):c.574C>T (p.Pro192Ser)	rs61753174
NM_000330.4(RS1):c.608C>T (p.Pro203Leu)	rs104894930
NM_000330.4(RS1):c.673T>C (p.Ter225Arg)	rs1057517433
NM_000349.3(STAR):c.466-11T>A	rs1053284504
NM_000349.3(STAR):c.505G>A (p.Glu169Lys)	rs747169620
NM_000349.3(STAR):c.544C>T (p.Arg182Cys)	rs369232492
NM_000349.3(STAR):c.574C>T (p.Arg192Cys)	rs752311616
NM_000349.3(STAR):c.695del (p.Gly232fs)	rs757367795
NM_000349.3(STAR):c.714del (p.Lys238fs)	rs1417088430
NM_000349.3(STAR):c.811del (p.Leu271fs)	rs1350908961
NM_000352.6(ABCC8):c.1879del (p.His627fs)	rs764613146
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs)	rs1554913069
NM_000352.6(ABCC8):c.3124_3126delinsCAGCCAGGAACTG (p.Thr1042fs)	rs786204542
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs)	rs886041392
NM_000352.6(ABCC8):c.3557+1G>A	rs1554910610
NM_000352.6(ABCC8):c.4021C>T (p.Gln1341Ter)	rs1057516718
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)	rs28938469
NM_000352.6(ABCC8):c.4322del (p.Pro1441fs)	rs758844607
NM_000352.6(ABCC8):c.4412-13G>A	rs1008906426
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser)	rs797045213
NM_000352.6(ABCC8):c.579+2T>A	rs1449198328
NM_000353.3(TAT):c.1047del (p.Asn349fs)	rs1555537673
NM_000353.3(TAT):c.169C>T (p.Arg57Ter)	rs118203914
NM_000353.3(TAT):c.177dup (p.Val60fs)	rs1555538156
NM_000353.3(TAT):c.226dup (p.Leu76fs)	rs746077579
NM_000359.3(TGM1):c.1159+1G>T	rs1220151696
NM_000359.3(TGM1):c.1160-2_1160-1del	rs1555306117
NM_000359.3(TGM1):c.1166G>A (p.Arg389His)	rs121918723
NM_000359.3(TGM1):c.1187G>A (p.Arg396His)	rs121918721
NM_000359.3(TGM1):c.1187G>T (p.Arg396Leu)	rs121918721
NM_000359.3(TGM1):c.1984C>T (p.Gln662Ter)	rs1555305725
NM_000359.3(TGM1):c.2226-2A>G	rs752349623
NM_000359.3(TGM1):c.431G>A (p.Gly144Glu)	rs1465243895
NM_000359.3(TGM1):c.635C>T (p.Ser212Phe)	rs1555306304
NM_000359.3(TGM1):c.679C>T (p.Gln227Ter)	rs972054392
NM_000359.3(TGM1):c.919C>T (p.Arg307Trp)	rs121918731
NM_000360.4(TH):c.1052T>C (p.Ile351Thr)	rs1554922725
NM_000360.4(TH):c.1176_1180del (p.Ser394fs)	rs1554922593
NM_000360.4(TH):c.12dup (p.Asp5fs)	rs1057516716
NM_000360.4(TH):c.1335-1G>A	rs1554922200
NM_000360.4(TH):c.628G>A (p.Ala210Thr)	rs1260455415
NM_000360.4(TH):c.90+10C>T	rs1554924321
NM_000360.4(TH):c.90+13G>T	rs77140743
NM_000360.4(TH):c.90+7dup	rs780485650
NM_000360.4(TH):c.917G>A (p.Arg306His)	rs28934580
NM_000370.3(TTPA):c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer)	rs1554524061
NM_000370.3(TTPA):c.487del (p.Trp163fs)	rs397515378
NM_000380.4(XPA):c.10del (p.Ala4fs)	rs779161471
NM_000380.4(XPA):c.323G>T (p.Cys108Phe)	rs104894131
NM_000380.4(XPA):c.378T>G (p.Cys126Trp)	rs1451780491
NM_000380.4(XPA):c.389+1G>A	rs1554701931
NM_000380.4(XPA):c.428_429del (p.Glu143fs)	rs1554701540
NM_000380.4(XPA):c.451A>T (p.Lys151Ter)	rs1554701532
NM_000380.4(XPA):c.472dup (p.Arg158fs)	rs1554701520
NM_000380.4(XPA):c.631C>T (p.Arg211Ter)	rs149226993
NM_000380.4(XPA):c.772_785del (p.Arg258fs)	rs778543124
NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs)	rs767751416
NM_000382.3(ALDH3A2):c.471+1del	rs786204741
NM_000382.3(ALDH3A2):c.472-2A>G	rs2544371353
NM_000382.3(ALDH3A2):c.798+1_798+6del	rs1057517352
NM_000382.3(ALDH3A2):c.798+5G>A	rs786204677
NM_000382.3(ALDH3A2):c.901_903delinsCC (p.Ala301fs)	rs786204759
NM_000382.3(ALDH3A2):c.979del (p.Lys326_Val327insTer)	rs779956047
NM_000383.4(AIRE):c.1066dup (p.Arg356fs)	rs1555872879
NM_000383.4(AIRE):c.1084del (p.Val362fs)	rs1057517254
NM_000383.4(AIRE):c.1095+23_1095+64del	rs1037154559
NM_000383.4(AIRE):c.1249dup (p.Leu417fs)	rs786204567
NM_000383.4(AIRE):c.1265del (p.Pro422fs)	rs764878471
NM_000383.4(AIRE):c.1480_1483del (p.Arg494fs)	rs1057517072
NM_000383.4(AIRE):c.157G>T (p.Glu53Ter)	rs1057516272
NM_000383.4(AIRE):c.260del (p.Leu87fs)	rs1057517428
NM_000383.4(AIRE):c.328del (p.Arg110fs)	rs1162316051
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys)	rs179363875
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter)	rs1057517241
NM_000390.4(CHM):c.116+1G>A	rs786204761
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp)	rs1554901784
NM_000391.4(TPP1):c.1076-2A>T	rs1424116749
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.311T>A (p.Leu104Ter)	rs202189057
NM_000391.4(TPP1):c.357dup (p.Leu120fs)	rs1554902085
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln)	rs121908204
NM_000391.4(TPP1):c.731T>C (p.Met244Thr)	rs1554901895
NM_000391.4(TPP1):c.833A>C (p.Gln278Pro)	rs796053439
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser)	rs119455958
NM_000391.4(TPP1):c.972_979del (p.Ser324fs)	rs778232650
NM_000396.4(CTSK):c.3G>A (p.Met1Ile)	rs778368118
NM_000396.4(CTSK):c.426del (p.Phe142fs)	rs1057516514
NM_000396.4(CTSK):c.568C>T (p.Gln190Ter)	rs202040269
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter)	rs74315303
NM_000396.4(CTSK):c.830C>T (p.Ala277Val)	rs74315304
NM_000396.4(CTSK):c.934C>T (p.Arg312Ter)	rs375958814
NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn)	rs749980306
NM_000404.4(GLB1):c.1144-2A>G	rs1553607014
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs)	rs398123348
NM_000404.4(GLB1):c.1233+1G>A	rs1553606984
NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile)	rs202237232
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs)	rs398123349
NM_000404.4(GLB1):c.1510_1511insGA (p.Asn504fs)	rs1553606128
NM_000404.4(GLB1):c.152T>A (p.Ile51Asn)	rs72555390
NM_000404.4(GLB1):c.1634dup (p.Asn545fs)	rs754131566
NM_000404.4(GLB1):c.1714C>T (p.Gln572Ter)	rs1803200
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter)	rs398123350
NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser)	rs794727165
NM_000404.4(GLB1):c.1991del (p.Pro664fs)	rs1553604677
NM_000404.4(GLB1):c.245+1G>C	rs778423653
NM_000404.4(GLB1):c.248A>G (p.Tyr83Cys)	rs1553612220
NM_000404.4(GLB1):c.397-1G>A	rs398123353
NM_000404.4(GLB1):c.401G>T (p.Gly134Val)	rs773562141
NM_000404.4(GLB1):c.433_437del (p.Ile145fs)	rs1553612145
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser)	rs192732174
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys)	rs192732174
NM_000404.4(GLB1):c.446C>T (p.Ser149Phe)	rs778700089
NM_000404.4(GLB1):c.65_75+1del	rs1382394474
NM_000404.4(GLB1):c.694dup (p.Ala232fs)	rs1553611025
NM_000404.4(GLB1):c.733+1G>A	rs1041204916
NM_000404.4(GLB1):c.769_792+13del	rs1282958432
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys)	rs977975596
NM_000414.4(HSD17B4):c.1210-1G>A	rs1554065671
NM_000414.4(HSD17B4):c.1369A>G (p.Asn457Asp)	rs137853097
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His)	rs1554068136
NM_000414.4(HSD17B4):c.1595A>G (p.His532Arg)	rs1554068272
NM_000414.4(HSD17B4):c.1907del (p.Lys636fs)	rs1057516312
NM_000414.4(HSD17B4):c.523G>A (p.Ala175Thr)	rs1554062814
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer)	rs758055753
NM_000426.4(LAMA2):c.1306+2T>G	rs1326401124
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)	rs202247790
NM_000426.4(LAMA2):c.2556del (p.Phe852fs)	rs750731624
NM_000426.4(LAMA2):c.283C>T (p.Gln95Ter)	rs1018100729
NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter)	rs398123371
NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter)	rs121913569
NM_000426.4(LAMA2):c.4198C>T (p.Arg1400Ter)	rs775112258
NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe)	rs143680577
NM_000426.4(LAMA2):c.4524-2A>T	rs1554278541
NM_000426.4(LAMA2):c.4692_4695dup (p.Arg1566fs)	rs774051471
NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter)	rs553221833
NM_000426.4(LAMA2):c.5259del (p.Lys1753_Val1754insTer)	rs1211739649
NM_000426.4(LAMA2):c.5325dup (p.Leu1776fs)	rs768458445
NM_000426.4(LAMA2):c.6510TGT[1] (p.Val2172del)	rs1363017615
NM_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter)	rs727502851
NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter)	rs121913571
NM_000441.2(SLC26A4):c.1001+1G>T	rs80338849
NM_000441.2(SLC26A4):c.1001+4A>G	rs1262298247
NM_000441.2(SLC26A4):c.1001+5G>T	rs780131226
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)	rs146281367
NM_000441.2(SLC26A4):c.1173C>A (p.Ser391Arg)	rs1057517042
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)	rs397516413
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg)	rs201660407
NM_000441.2(SLC26A4):c.1263+1G>T	rs1057517000
NM_000441.2(SLC26A4):c.1264-1G>C	rs111033311
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del)	rs111033306
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg)	rs768471577
NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys)	rs1554359670
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer)	rs786204601
NM_000441.2(SLC26A4):c.1529T>A (p.Val510Asp)	rs1554359973
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs)	rs786204450
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro)	rs1554360358
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.2145G>T (p.Lys715Asn)	rs397516427
NM_000441.2(SLC26A4):c.227C>T (p.Pro76Leu)	rs1345175795
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter)	rs786204581
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu)	rs370588279
NM_000441.2(SLC26A4):c.304+2T>C	rs746238617
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs)	rs786204730
NM_000441.2(SLC26A4):c.395C>T (p.Thr132Ile)	rs1554354370
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr)	rs121908365
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu)	rs111033199
NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala)	rs756272252
NM_000441.2(SLC26A4):c.737del (p.Asn246fs)	rs918684449
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter)	rs111033205
NM_000441.2(SLC26A4):c.87G>T (p.Glu29Asp)	rs1554352240
NM_000441.2(SLC26A4):c.890del (p.Pro297fs)	rs786204600
NM_000441.2(SLC26A4):c.918+1G>T	rs111033245
NM_000455.5(STK11):c.1062C>T (p.Phe354=)	rs59912467
NM_000455.5(STK11):c.1180G>A (p.Gly394Ser)	rs768780695
NM_000455.5(STK11):c.120C>T (p.Arg40=)	rs878853984
NM_000455.5(STK11):c.1225C>G (p.Arg409Gly)	rs368466538
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)	rs368466538
NM_000455.5(STK11):c.1262GCA[1] (p.Ser422del)	rs587782439
NM_000455.5(STK11):c.1276C>G (p.Arg426Gly)	rs587782687
NM_000455.5(STK11):c.200T>C (p.Leu67Pro)	rs137853077
NM_000455.5(STK11):c.374+2T>C	rs1555737480
NM_000455.5(STK11):c.375-5C>T	rs1057517626
NM_000455.5(STK11):c.464+20del	rs730881960
NM_000455.5(STK11):c.465-4G>A	rs587780009
NM_000455.5(STK11):c.537G>A (p.Pro179=)	rs528535500
NM_000455.5(STK11):c.597+21dup	rs534445875
NM_000455.5(STK11):c.598-11C>T	rs587782431
NM_000455.5(STK11):c.721G>A (p.Ala241Thr)	rs587780721
NM_000455.5(STK11):c.734+19dup	rs730881962
NM_000455.5(STK11):c.735-6_735-2del	rs759090799
NM_000455.5(STK11):c.920+7G>A	rs2075607
NM_000455.5(STK11):c.920+7_920+8delinsCA	rs1057517545
NM_000455.5(STK11):c.96C>G (p.Thr32=)	rs79175212
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del)	rs28997575
NM_000465.4(BARD1):c.176_177del (p.Glu59fs)	rs1057517589
NM_000465.4(BARD1):c.1811-16dup	rs760333316
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs)	rs587780024
NM_000465.4(BARD1):c.1939C>T (p.Gln647Ter)	rs1350570988
NM_000465.4(BARD1):c.2001+3A>G	rs1553612461
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly)	rs76744638
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs)	rs750413473
NM_000465.4(BARD1):c.365-8del	rs776103948
NM_000466.3(PEX1):c.1076del (p.Lys359fs)	rs1057517465
NM_000466.3(PEX1):c.1108del (p.Ile370fs)	rs61750406
NM_000466.3(PEX1):c.129+10C>T	rs886062508
NM_000466.3(PEX1):c.1501_1502del (p.Leu501fs)	rs786204743
NM_000466.3(PEX1):c.1522dup (p.Glu508fs)	rs1057517463
NM_000466.3(PEX1):c.1528G>T (p.Glu510Ter)	rs754983126
NM_000466.3(PEX1):c.1670+1G>A	rs1057517490
NM_000466.3(PEX1):c.1670+1G>T	rs1057517490
NM_000466.3(PEX1):c.1716_1717del (p.His572fs)	rs786204606
NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs)	rs1554372561
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.1908del (p.Arg636fs)	rs1057517478
NM_000466.3(PEX1):c.1927dup (p.Thr643fs)	rs1554372180
NM_000466.3(PEX1):c.1A>C (p.Met1Leu)	rs1057517501
NM_000466.3(PEX1):c.2034_2035del (p.His678fs)	rs61750412
NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter)	rs1057517468
NM_000466.3(PEX1):c.2162_2166del (p.Leu721fs)	rs1057517499
NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs)	rs61750414
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del)	rs886043984
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter)	rs1057517485
NM_000466.3(PEX1):c.2760del (p.Ala921fs)	rs1256376226
NM_000466.3(PEX1):c.2798dup (p.Pro934fs)	rs1057517484
NM_000466.3(PEX1):c.2852dup (p.His951fs)	rs767877383
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter)	rs1057517481
NM_000466.3(PEX1):c.2916del (p.Gly973fs)	rs61750426
NM_000466.3(PEX1):c.2922del (p.Leu974fs)	rs762324548
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)	rs61750428
NM_000466.3(PEX1):c.2T>G (p.Met1Arg)	rs766020928
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro)	rs954814470
NM_000466.3(PEX1):c.3455_3456del (p.Ser1152fs)	rs759183382
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter)	rs1057517467
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs)	rs769836601
NM_000466.3(PEX1):c.3G>A (p.Met1Ile)	rs786204704
NM_000466.3(PEX1):c.473-1G>A	rs1554375661
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter)	rs1554375599
NM_000466.3(PEX1):c.643_647del (p.Thr215fs)	rs786204544
NM_000466.3(PEX1):c.911_912del (p.Ser304fs)	rs786204638
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)	rs121918009
NM_000478.6(ALPL):c.211C>T (p.Arg71Cys)	rs121918001
NM_000481.4(AMT):c.1153C>T (p.Gln385Ter)	rs1553638206
NM_000481.4(AMT):c.515T>C (p.Leu172Pro)	rs1366977126
NM_000487.6(ARSA):c.109_116del (p.Asp37fs)	rs753415648
NM_000487.6(ARSA):c.1107+1del	rs1057517036
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp)	rs74315476
NM_000487.6(ARSA):c.1195C>T (p.His399Tyr)	rs199476376
NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del)	rs765905826
NM_000487.6(ARSA):c.1337del (p.Gly446fs)	rs750030142
NM_000487.6(ARSA):c.1344dup (p.Gly449fs)	rs761555167
NM_000487.6(ARSA):c.1492dup (p.Arg498fs)	rs774153480
NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer)	rs398123414
NM_000487.6(ARSA):c.211_212del (p.Cys71fs)	rs1057516288
NM_000487.6(ARSA):c.224+1G>A	rs1555901108
NM_000487.6(ARSA):c.240dup (p.Gly81fs)	rs786204599
NM_000487.6(ARSA):c.257G>T (p.Arg86Leu)	rs74315458
NM_000487.6(ARSA):c.295dup (p.Arg99fs)	rs1555901056
NM_000487.6(ARSA):c.304del (p.Leu102fs)	rs786204673
NM_000487.6(ARSA):c.398_409del (p.Glu133_Leu137delinsVal)	rs1555901024
NM_000487.6(ARSA):c.413C>T (p.Pro138Leu)	rs74315462
NM_000487.6(ARSA):c.418C>G (p.His140Asp)	rs199476358
NM_000487.6(ARSA):c.418del (p.His140fs)	rs745884435
NM_000487.6(ARSA):c.418dup (p.His140fs)	rs745884435
NM_000487.6(ARSA):c.421C>T (p.Gln141Ter)	rs1057516730
NM_000487.6(ARSA):c.466-2A>G	rs1057517044
NM_000487.6(ARSA):c.526C>T (p.Gln176Ter)	rs762284875
NM_000487.6(ARSA):c.545del (p.Pro182fs)	rs1057516907
NM_000487.6(ARSA):c.622del (p.His208fs)	rs1555900900
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg)	rs74315471
NM_000487.6(ARSA):c.758dup (p.Met254fs)	rs74315270
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys)	rs74315483
NM_000487.6(ARSA):c.877C>T (p.Arg293Ter)	rs1555900678
NM_000487.6(ARSA):c.917C>T (p.Thr306Met)	rs199476359
NM_000487.6(ARSA):c.922T>C (p.Tyr308His)	rs199476379
NM_000487.6(ARSA):c.929del (p.Gly310fs)	rs1057516638
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter)	rs551472773
NM_000487.6(ARSA):c.946G>A (p.Ala316Thr)	rs199476368
NM_000487.6(ARSA):c.979+1G>A	rs754722529
NM_000487.6(ARSA):c.979_979+3del	rs1057516887
NM_000487.6(ARSA):c.980-2A>C	rs769152137
NM_000487.6(ARSA):c.986C>T (p.Thr329Ile)	rs398123418
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter)	rs398123419
NM_000492.3(CFTR):c.-893_-891delTAT	rs780557040
NM_000492.4(CFTR):c.-34C>T	rs756314710
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu)	rs397508137
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys)	rs397508139
NM_000492.4(CFTR):c.1117-2A>G	rs1554381596
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter)	rs397508165
NM_000492.4(CFTR):c.114C>G (p.Tyr38Ter)	rs193922498
NM_000492.4(CFTR):c.1209+1G>T	rs397508176
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter)	rs367934560
NM_000492.4(CFTR):c.1352G>T (p.Gly451Val)	rs1554382653
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	rs193922500
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro)	rs1554382664
NM_000492.4(CFTR):c.1373del (p.Gly458fs)	rs397508196
NM_000492.4(CFTR):c.137C>A (p.Ala46Asp)	rs151020603
NM_000492.4(CFTR):c.1409_1418del (p.Val470fs)	rs397508204
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)	rs79282516
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe)	rs121909017
NM_000492.4(CFTR):c.1501A>G (p.Thr501Ala)	rs397508221
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)	rs397508224
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.164+1G>C	rs397508243
NM_000492.4(CFTR):c.164+1G>T	rs397508243
NM_000492.4(CFTR):c.164+2dup	rs1554375870
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)	rs121909013
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys)	rs80055610
NM_000492.4(CFTR):c.1680-1G>C	rs121908794
NM_000492.4(CFTR):c.1680-877G>T	rs397508261
NM_000492.4(CFTR):c.1680-883A>G	rs1554388867
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser)	rs397508267
NM_000492.4(CFTR):c.1703T>A (p.Leu568Ter)	rs397508273
NM_000492.4(CFTR):c.171G>A (p.Trp57Ter)	rs121909025
NM_000492.4(CFTR):c.1730A>T (p.Tyr577Phe)	rs397508286
NM_000492.4(CFTR):c.1766+2T>A	rs1554389062
NM_000492.4(CFTR):c.1766+2T>C	rs1554389062
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile)	rs397508308
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala)	rs1554389290
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter)	rs397508327
NM_000492.4(CFTR):c.1A>G (p.Met1Val)	rs397508328
NM_000492.4(CFTR):c.2036G>A (p.Trp679Ter)	rs397508333
NM_000492.4(CFTR):c.2044del (p.Thr682fs)	rs1554389346
NM_000492.4(CFTR):c.2077T>C (p.Phe693Leu)	rs397508338
NM_000492.4(CFTR):c.2475_2478dup (p.Glu827fs)	rs1554389486
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter)	rs121909012
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter)	rs397508412
NM_000492.4(CFTR):c.2644_2645dup (p.Trp882fs)	rs1554390864
NM_000492.4(CFTR):c.2657+17C>T	rs368543375
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn)	rs201864483
NM_000492.4(CFTR):c.274-1G>C	rs121908792
NM_000492.4(CFTR):c.274-2A>G	rs397508426
NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro)	rs397508435
NM_000492.4(CFTR):c.2822del (p.Leu941fs)	rs762844777
NM_000492.4(CFTR):c.2875del (p.Ala959fs)	rs397508447
NM_000492.4(CFTR):c.2907A>C (p.Ala969=)	rs377502207
NM_000492.4(CFTR):c.2908G>A (p.Gly970Ser)	rs397508453
NM_000492.4(CFTR):c.2909-15T>G	rs397508455
NM_000492.4(CFTR):c.2909-4A>G	rs397508457
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter)	rs193922514
NM_000492.4(CFTR):c.2989-1G>A	rs397508470
NM_000492.4(CFTR):c.2993del (p.Leu998fs)	rs1057516415
NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer)	rs397508472
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg)	rs397508479
NM_000492.4(CFTR):c.3022del (p.Val1008fs)	rs397508482
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu)	rs193922516
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser)	rs397508488
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg)	rs397508490
NM_000492.4(CFTR):c.3061C>A (p.Pro1021Thr)	rs397508491
NM_000492.4(CFTR):c.3061C>T (p.Pro1021Ser)	rs397508491
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter)	rs397508496
NM_000492.4(CFTR):c.3199G>C (p.Ala1067Pro)	rs121909020
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe)	rs397508520
NM_000492.4(CFTR):c.3254A>G (p.His1085Arg)	rs79635528
NM_000492.4(CFTR):c.3257C>T (p.Thr1086Ile)	rs77958296
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn)	rs397508522
NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp)	rs397508523
NM_000492.4(CFTR):c.327T>A (p.Tyr109Ter)	rs397508528
NM_000492.4(CFTR):c.328G>A (p.Asp110Asn)	rs113993958
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)	rs397508535
NM_000492.4(CFTR):c.331C>G (p.Pro111Ala)	rs397508541
NM_000492.4(CFTR):c.3324del (p.Ile1109fs)	rs1554392282
NM_000492.4(CFTR):c.3368-2A>G	rs755416052
NM_000492.4(CFTR):c.3368-2A>T	rs755416052
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)	rs1800120
NM_000492.4(CFTR):c.3495del (p.Lys1165fs)	rs1057516970
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)	rs77834169
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)	rs78655421
NM_000492.4(CFTR):c.3536_3539del (p.Thr1179fs)	rs121908782
NM_000492.4(CFTR):c.3617C>G (p.Ser1206Ter)	rs397508588
NM_000492.4(CFTR):c.3717+40A>G	rs397508595
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro)	rs121909041
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter)	rs397508615
NM_000492.4(CFTR):c.3872A>G (p.Gln1291Arg)	rs397508621
NM_000492.4(CFTR):c.3873+1G>T	rs143570767
NM_000492.4(CFTR):c.3873+2T>C	rs146795445
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)	rs397508635
NM_000492.4(CFTR):c.3929G>A (p.Trp1310Ter)	rs397508645
NM_000492.4(CFTR):c.3944_3951del (p.Ile1315fs)	rs754392413
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs)	rs1057516457
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)	rs397508658
NM_000492.4(CFTR):c.4035_4038dup (p.Ser1347fs)	rs1554397497
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp)	rs193922525
NM_000492.4(CFTR):c.4077_4080delinsAA (p.Val1360fs)	rs397508668
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn)	rs200955612
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter)	rs397508675
NM_000492.4(CFTR):c.4242+1G>A	rs372227120
NM_000492.4(CFTR):c.4252G>T (p.Glu1418Ter)	rs397508707
NM_000492.4(CFTR):c.4272C>A (p.Tyr1424Ter)	rs1800135
NM_000492.4(CFTR):c.4272C>G (p.Tyr1424Ter)	rs1800135
NM_000492.4(CFTR):c.4297G>T (p.Glu1433Ter)	rs750559671
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs)	rs397508709
NM_000492.4(CFTR):c.4329del (p.Ser1444fs)	rs1554397769
NM_000492.4(CFTR):c.489+2T>C	rs397508732
NM_000492.4(CFTR):c.523A>G (p.Ile175Val)	rs397508744
NM_000492.4(CFTR):c.53+1G>T	rs397508746
NM_000492.4(CFTR):c.533G>A (p.Gly178Glu)	rs397508748
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys)	rs397508753
NM_000492.4(CFTR):c.575A>G (p.Asp192Gly)	rs397508758
NM_000492.4(CFTR):c.739_742dup (p.Arg248fs)	rs1057517342
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly)	rs1554380515
NM_000492.4(CFTR):c.743+1G>C	rs397508791
NM_000492.4(CFTR):c.744-2A>G	rs1057516646
NM_000492.4(CFTR):c.744-33GATT[5]	rs1805171
NM_000492.4(CFTR):c.811del (p.Ser271fs)	rs1554380789
NM_000492.4(CFTR):c.828C>A (p.Cys276Ter)	rs397508799
NM_000492.4(CFTR):c.850dup (p.Met284fs)	rs786204693
NM_000492.4(CFTR):c.865A>T (p.Arg289Ter)	rs1057516619
NM_000492.4(CFTR):c.869+3A>T	rs1554380828
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del)	rs121908768
NM_000492.4(CFTR):c.940G>C (p.Gly314Arg)	rs397508819
NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln)	rs764598023
NM_000497.4(CYP11B1):c.217C>T (p.Gln73Ter)	rs1554653675
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)	rs104894070
NM_000497.4(CYP11B1):c.494C>A (p.Ala165Asp)	rs1554653185
NM_000497.4(CYP11B1):c.55C>T (p.Gln19Ter)	rs763195324
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=)	rs753774484
NM_000497.4(CYP11B1):c.992C>T (p.Ala331Val)	rs1326688256
NM_000518.5(HBB):c.230del (p.Ala77fs)	rs281864901
NM_000518.5(HBB):c.2T>C (p.Met1Thr)	rs33941849
NM_000518.5(HBB):c.315+1G>C	rs33945777
NM_000518.5(HBB):c.380T>G (p.Val127Gly)	rs33925391
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.93-15T>G	rs35456885
NM_000520.6(HEXA):c.-2564_253+5128delinsG
NM_000520.6(HEXA):c.1003A>T (p.Ile335Phe)	rs1555472604
NM_000520.6(HEXA):c.1043_1046del (p.Phe348fs)	rs1057516755
NM_000520.6(HEXA):c.1074-7_1074-3del	rs759219683
NM_000520.6(HEXA):c.1123del (p.Glu375fs)	rs766138785
NM_000520.6(HEXA):c.1140del (p.Lys380_Val381insTer)	rs1555472553
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter)	rs988192535
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs)	rs777042785
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp)	rs1229811721
NM_000520.6(HEXA):c.1421+13dup	rs780193130
NM_000520.6(HEXA):c.1421+15G>C	rs185764548
NM_000520.6(HEXA):c.1421+1G>T	rs147324677
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter)	rs762374961
NM_000520.6(HEXA):c.1422-1G>T	rs1555472296
NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg)	rs121907968
NM_000520.6(HEXA):c.1511G>T (p.Arg504Leu)	rs121907955
NM_000520.6(HEXA):c.1526+1G>T	rs1309204908
NM_000520.6(HEXA):c.20G>A (p.Trp7Ter)	rs751546658
NM_000520.6(HEXA):c.237_253+7del	rs770628999
NM_000520.6(HEXA):c.26C>A (p.Ser9Ter)	rs769370282
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter)	rs773446161
NM_000520.6(HEXA):c.346+1G>T	rs797044432
NM_000520.6(HEXA):c.465del (p.Phe155fs)	rs1057516850
NM_000520.6(HEXA):c.551_552del (p.Leu183_Ser184insTer)	rs1555473070
NM_000520.6(HEXA):c.570+1G>A	rs786204754
NM_000520.6(HEXA):c.60_61dup (p.Thr21fs)	rs1057517296
NM_000520.6(HEXA):c.611A>G (p.His204Arg)	rs121907976
NM_000520.6(HEXA):c.672+1G>A	rs387906311
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter)	rs150675340
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr)	rs758166013
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser)	rs1057521137
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del)	rs121907960
NM_000520.6(HEXA):c.91C>T (p.Gln31Ter)	rs556872918
NM_000520.6(HEXA):c.947dup (p.Tyr316Ter)	rs786204515
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr)	rs772180415
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs)	rs776476415
NM_000521.4(HEXB):c.118del (p.Ala40fs)	rs1554034447
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs)	rs779328596
NM_000521.4(HEXB):c.1389C>G (p.Tyr463Ter)	rs1554036943
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs)	rs794727091
NM_000521.4(HEXB):c.1559_1562dup (p.Asp521fs)	rs1554037129
NM_000521.4(HEXB):c.1575_1590dup (p.Arg531delinsLeuTer)	rs1554037137
NM_000521.4(HEXB):c.1611_1613+2del	rs1554037170
NM_000521.4(HEXB):c.1613+15_1613+18dup	rs779273534
NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr)	rs727503961
NM_000521.4(HEXB):c.298del (p.Arg100fs)	rs886039499
NM_000521.4(HEXB):c.333G>A (p.Trp111Ter)	rs761117459
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter)	rs573447174
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter)	rs786204715
NM_000528.4(MAN2B1):c.1280_1296del (p.Pro427fs)	rs1057517408
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter)	rs775200333
NM_000528.4(MAN2B1):c.1468_1472del (p.Phe490fs)	rs1057517316
NM_000528.4(MAN2B1):c.1A>T (p.Met1Leu)	rs967834240
NM_000528.4(MAN2B1):c.231G>A (p.Trp77Ter)	rs1555710070
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=)	rs1008745697
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs)	rs797044680
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter)	rs767323371
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His)	rs758765126
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs)	rs1057516864
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)	rs370803545
NM_000528.4(MAN2B1):c.53_54insT (p.Ala19fs)	rs1057516810
NM_000528.4(MAN2B1):c.764-1G>C	rs1555709533
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu)	rs142982097
NM_000532.5(PCCB):c.1260dup (p.Glu421Ter)	rs1553784569
NM_000532.5(PCCB):c.1379_1385del (p.Ile460fs)	rs1553784721
NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter)	rs1553784921
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter)	rs1292452485
NM_000532.5(PCCB):c.1503del (p.Phe501fs)	rs1553785139
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter)	rs749908889
NM_000532.5(PCCB):c.184-2A>G	rs1553774015
NM_000532.5(PCCB):c.319G>A (p.Val107Met)	rs1553774114
NM_000532.5(PCCB):c.372+2T>C	rs879253814
NM_000532.5(PCCB):c.487_488dup (p.Ala164fs)	rs1553774884
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln)	rs1304714042
NM_000532.5(PCCB):c.517_518del (p.Leu173fs)	rs755776820
NM_000532.5(PCCB):c.553dup (p.Thr185fs)	rs777455573
NM_000532.5(PCCB):c.611C>T (p.Ala204Val)	rs760499581
NM_000532.5(PCCB):c.617A>G (p.Tyr206Cys)	rs779033674
NM_000532.5(PCCB):c.649dup (p.Val217fs)	rs796052021
NM_000532.5(PCCB):c.763+3GA[4]	rs1553778916
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser)	rs1553778909
NM_000532.5(PCCB):c.838dup (p.Leu280fs)	rs769968548
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del)	rs863224676
NM_000535.7(PMS2):c.1344A>G (p.Gly448=)	rs759192470
NM_000535.7(PMS2):c.164-1G>C	rs763308607
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln)	rs63750668
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)	rs63750668
NM_000535.7(PMS2):c.2007-6C>G	rs376018314
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)	rs730881919
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs)	rs1554304745
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)	rs587780059
NM_000535.7(PMS2):c.706-4dup	rs60794673
NM_000535.7(PMS2):c.904-2A>G	rs587781339
NM_000543.5(SMPD1):c.1092-1G>C	rs398123474
NM_000543.5(SMPD1):c.1101dup (p.Phe368fs)	rs1422720020
NM_000543.5(SMPD1):c.1111_1112del (p.Leu371fs)	rs786204514
NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs)	rs1057516432
NM_000543.5(SMPD1):c.1276G>A (p.Gly426Ser)	rs1554935136
NM_000543.5(SMPD1):c.151_154del (p.Asp51fs)	rs1057516949
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.1785_1786del (p.Ala597fs)	rs1057516403
NM_000543.5(SMPD1):c.1817del (p.Pro606fs)	rs1554935746
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del)	rs120074118
NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter)	rs1205990349
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro)	rs751269562
NM_000543.5(SMPD1):c.354del (p.Ile119fs)	rs727504165
NM_000543.5(SMPD1):c.362T>C (p.Leu121Pro)	rs1554934109
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro)	rs780134410
NM_000543.5(SMPD1):c.518dup (p.Ser174fs)	rs786204733
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs)	rs786204694
NM_000543.5(SMPD1):c.581del (p.Pro194fs)	rs748165078
NM_000543.5(SMPD1):c.581dup (p.Ala195fs)	rs748165078
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter)	rs1554933751
NM_000543.5(SMPD1):c.730G>T (p.Gly244Ter)	rs120074122
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs)	rs794727252
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg)	rs757934797
NM_000543.5(SMPD1):c.95G>A (p.Trp32Ter)	rs1554933780
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter)	rs786204506
NM_000546.6(TP53):c.107C>A (p.Pro36Gln)	rs587781866
NM_000546.6(TP53):c.1135C>A (p.Arg379Ser)	rs749061599
NM_000546.6(TP53):c.11C>T (p.Pro4Leu)	rs878854064
NM_000546.6(TP53):c.145G>C (p.Asp49His)	rs587780728
NM_000546.6(TP53):c.31G>A (p.Glu11Lys)	rs201382018
NM_000546.6(TP53):c.38dup (p.Leu14fs)	rs1555527002
NM_000546.6(TP53):c.427G>A (p.Val143Met)	rs587782620
NM_000546.6(TP53):c.499C>T (p.Gln167Ter)	rs1555526097
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn)	rs1057520008
NM_000546.6(TP53):c.645T>G (p.Ser215Arg)	rs1057520001
NM_000546.6(TP53):c.646G>A (p.Val216Met)	rs730882025
NM_000546.6(TP53):c.655C>T (p.Pro219Ser)	rs879253894
NM_000546.6(TP53):c.666G>T (p.Pro222=)	rs72661118
NM_000546.6(TP53):c.724T>A (p.Cys242Ser)	rs1057519982
NM_000546.6(TP53):c.776A>T (p.Asp259Val)	rs745425759
NM_000546.6(TP53):c.794T>C (p.Leu265Pro)	rs879253942
NM_000546.6(TP53):c.818G>A (p.Arg273His)	rs28934576
NM_000546.6(TP53):c.892G>A (p.Glu298Lys)	rs201744589
NM_000551.4(VHL):c.154G>A (p.Glu52Lys)	rs373068386
NM_000551.4(VHL):c.345C>T (p.His115=)	rs864622646
NM_000551.4(VHL):c.3G>A (p.Met1Ile)	rs578091032
NM_000551.4(VHL):c.3G>T (p.Met1Ile)	rs578091032
NM_000642.3(AGL):c.104T>G (p.Leu35Ter)	rs1057516567
NM_000642.3(AGL):c.1159C>T (p.Arg387Ter)	rs1553185418
NM_000642.3(AGL):c.1169_1172del (p.Asn390fs)	rs1057516741
NM_000642.3(AGL):c.118C>T (p.Gln40Ter)	rs771961377
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer)	rs786204678
NM_000642.3(AGL):c.1391dup (p.Asp465fs)	rs786204616
NM_000642.3(AGL):c.2223_2224del (p.Gln741fs)	rs1553186613
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer)	rs767346840
NM_000642.3(AGL):c.2278del (p.Ser760fs)	rs1057517136
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs)	rs1553187237
NM_000642.3(AGL):c.2538dup (p.Ile847fs)	rs1057516984
NM_000642.3(AGL):c.2605C>T (p.Gln869Ter)	rs1057516254
NM_000642.3(AGL):c.293+1del	rs777857395
NM_000642.3(AGL):c.3011del (p.Pro1004fs)	rs1057516306
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs)	rs771069887
NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter)	rs1553188849
NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter)	rs786204490
NM_000642.3(AGL):c.3362+1G>A	rs1553189468
NM_000642.3(AGL):c.3443dup (p.Tyr1148Ter)	rs1057517079
NM_000642.3(AGL):c.348_373del (p.Ala117fs)	rs1057516308
NM_000642.3(AGL):c.3589-1G>A	rs1289339080
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter)	rs775498547
NM_000642.3(AGL):c.3807dup (p.Arg1270Ter)	rs1057517017
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs)	rs867341758
NM_000642.3(AGL):c.3911del (p.Asn1304fs)	rs745757264
NM_000642.3(AGL):c.3911dup (p.Asn1304fs)	rs745757264
NM_000642.3(AGL):c.4165_4166del (p.Ala1388_Pro1389insTer)	rs1293077915
NM_000642.3(AGL):c.4197del (p.Ala1400fs)	rs786204595
NM_000642.3(AGL):c.4221dup (p.Leu1408fs)	rs786204655
NM_000642.3(AGL):c.4322_4323dup (p.Gly1442fs)	rs1057516994
NM_000642.3(AGL):c.4323del (p.Gly1442fs)	rs1057516994
NM_000642.3(AGL):c.4347+1G>A	rs1553193463
NM_000642.3(AGL):c.4348G>T (p.Glu1450Ter)	rs1553193486
NM_000642.3(AGL):c.437del (p.Arg146fs)	rs1057517344
NM_000642.3(AGL):c.500dup (p.Leu168fs)	rs1443902661
NM_000642.3(AGL):c.535_538del (p.Leu179fs)	rs794727706
NM_000642.3(AGL):c.64del (p.Leu22fs)	rs1057517057
NM_000642.3(AGL):c.664+1G>A	rs61811105
NM_000642.3(AGL):c.672dup (p.Ser225Ter)	rs1057516471
NM_000642.3(AGL):c.854del (p.Arg285fs)	rs1553184620
NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs)	rs1330793674
NM_000709.4(BCKDHA):c.1167+1del	rs1555767169
NM_000709.4(BCKDHA):c.1168-2A>G	rs1555767285
NM_000709.4(BCKDHA):c.1198A>T (p.Lys400Ter)	rs863225262
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro)	rs755691417
NM_000709.4(BCKDHA):c.562G>T (p.Gly188Trp)	rs1555766625
NM_000709.4(BCKDHA):c.794G>C (p.Arg265Pro)	rs761996996
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs)	rs1178393503
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)	rs121908096
NM_000784.4(CYP27A1):c.1185-2A>T	rs1553616457
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs)	rs886041342
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)	rs587778781
NM_000784.4(CYP27A1):c.1263+2T>C	rs777935791
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)	rs72551322
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His)	rs144701596
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter)	rs374507635
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)	rs765512351
NM_000784.4(CYP27A1):c.845-2A>G	rs1553616312
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)	rs397515356
NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter)	rs118204034
NM_001039958.2(MESP2):c.258_261del (p.Glu88fs)	rs1452984345
NM_001039958.2(MESP2):c.957G>A (p.Ser319=)	rs752665246
NM_001040716.2(PC):c.1181T>C (p.Ile394Thr)	rs1057520687
NM_001040716.2(PC):c.2606G>A (p.Gly869Asp)	rs1555015018
NM_001040716.2(PC):c.3359_3362dup (p.Ile1123fs)	rs1555013840
NM_001040716.2(PC):c.52C>T (p.Arg18Ter)	rs144583275
NM_001040716.2(PC):c.584C>T (p.Ala195Val)	rs1436643226
NM_001040716.2(PC):c.796T>G (p.Ser266Ala)	rs113994142
NM_001042432.2(CLN3):c.1195G>T (p.Glu399Ter)	rs386833701
NM_001042432.2(CLN3):c.424del (p.Val142fs)	rs386833720
NM_001042432.2(CLN3):c.533+1G>C	rs386833728
NM_001042432.2(CLN3):c.582G>T (p.Leu194=)	rs386833734
NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter)	rs267606737
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter)	rs121434286
NM_001042432.2(CLN3):c.944dup (p.His315fs)	rs386833740
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)	rs587778536
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)	rs587780078
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)	rs121908380
NM_001048174.2(MUTYH):c.420+19_420+31del	rs781222233
NM_001048174.2(MUTYH):c.442_451del (p.Gly148fs)	rs1057517457
NM_001048174.2(MUTYH):c.475C>T (p.Gln159Ter)	rs1553128813
NM_001048174.2(MUTYH):c.963G>A (p.Trp321Ter)	rs1060501324
NM_001048174.2(MUTYH):c.994del (p.Arg332fs)	rs1057517456
NM_001079802.2(FKTN):c.1106del (p.Phe369fs)	rs750176716
NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del)	rs1554766855
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)	rs398123557
NM_001079866.2(BCS1L):c.-49-539T>A	rs386833855
NM_001079866.2(BCS1L):c.821del (p.Pro274fs)	rs760559534
NM_001128425.2(MUTYH):c.36+20C>A	rs540793556
NM_001130987.2(DYSF):c.1274_1276+4dup	rs768425085
NM_001130987.2(DYSF):c.1544C>A (p.Ser515Ter)	rs139258703
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter)	rs886042641
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.209T>G (p.Val70Gly)	rs886042878
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)	rs756328339
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs)	rs766341386
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)	rs766016391
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)	rs863225021
NM_001130987.2(DYSF):c.5531dup (p.Arg1845fs)	rs1553415211
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs)	rs750840208
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs)	rs751629543
NM_001142800.2(EYS):c.8155_8156del (p.His2719fs)	rs764229134
NM_001142800.2(EYS):c.8168del (p.Gln2723fs)	rs1168101857
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)	rs528919874
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs)	rs770748359
NM_001142800.2(EYS):c.9342TGT[1] (p.Val3116del)	rs536788112
NM_001164277.2(SLC37A4):c.1043T>C (p.Leu348Pro)	rs1210588522
NM_001164277.2(SLC37A4):c.1125-6T>G	rs782323567
NM_001164277.2(SLC37A4):c.148+2T>C	rs1449998297
NM_001164277.2(SLC37A4):c.149-11G>A	rs1555191644
NM_001164277.2(SLC37A4):c.332G>A (p.Gly111Asp)	rs1356550790
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs)	rs782604758
NM_001164277.2(SLC37A4):c.370del (p.Val124fs)	rs1555191512
NM_001164277.2(SLC37A4):c.381+1G>A	rs786204637
NM_001164277.2(SLC37A4):c.595del (p.Leu199fs)	rs1474282972
NM_001164277.2(SLC37A4):c.708_709dup (p.Phe237fs)	rs781869215
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs)	rs1447366650
NM_001164277.2(SLC37A4):c.872-10G>A	rs1555190776
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup)	rs786204477
NM_001164277.2(SLC37A4):c.986-14T>G	rs863224211
NM_001164277.2(SLC37A4):c.986-15C>T	rs782640506
NM_001164507.2(NEB):c.21321C>G (p.Tyr7107Ter)	rs1553679273
NM_001164508.2(NEB):c.1674+2T>C	rs1553603437
NM_001164508.2(NEB):c.18981C>G (p.Tyr6327Ter)	rs761964375
NM_001164508.2(NEB):c.2211+5G>A	rs797045736
NM_001164508.2(NEB):c.22138del (p.Glu7380fs)	rs1235589246
NM_001164508.2(NEB):c.22591-1G>C	rs757157808
NM_001164508.2(NEB):c.23378del (p.Met7793fs)	rs1553603690
NM_001164508.2(NEB):c.23910_23913dup (p.Glu7972fs)	rs761694639
NM_001164508.2(NEB):c.23929-2A>C	rs1553569122
NM_001164508.2(NEB):c.23937C>G (p.Tyr7979Ter)	rs779173742
NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs)	rs756384471
NM_001164508.2(NEB):c.24014_24015dup (p.Ser8006fs)	rs1553568357
NM_001164508.2(NEB):c.24024_24028dup (p.Tyr8010fs)	rs772009599
NM_001164508.2(NEB):c.24096_24099dup (p.Glu8034fs)	rs1553561211
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.24211_24212dup (p.Leu8071fs)	rs1553552384
NM_001164508.2(NEB):c.24275_24278dup (p.His8093fs)	rs1553551748
NM_001164508.2(NEB):c.24363_24364del (p.Arg8121fs)	rs752582527
NM_001164508.2(NEB):c.24368_24371dup (p.His8124fs)	rs1553548207
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter)	rs763364977
NM_001164508.2(NEB):c.24554_24555dup (p.Arg8186fs)	rs1553537512
NM_001164508.2(NEB):c.24639_24640del (p.Arg8214fs)	rs1357811155
NM_001164508.2(NEB):c.24665_24666del (p.Asn8221_Phe8222insTer)	rs794727136
NM_001164508.2(NEB):c.24666del (p.Phe8222fs)	rs794727136
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs)	rs776059611
NM_001164508.2(NEB):c.25214del (p.Gly8405fs)	rs1553520266
NM_001164508.2(NEB):c.25405-1G>C	rs1553508368
NM_001164508.2(NEB):c.3255+1G>C	rs375628303
NM_001164508.2(NEB):c.3255+1G>T	rs375628303
NM_001164508.2(NEB):c.3874A>G (p.Ser1292Gly)	rs1553521537
NM_001164508.2(NEB):c.3880-2A>G	rs1342507012
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG	rs786204576
NM_001164508.2(NEB):c.4337G>T (p.Gly1446Val)	rs541803470
NM_001164508.2(NEB):c.6075+1G>A	rs1553472127
NM_001164508.2(NEB):c.6078del (p.Lys2026fs)	rs1057516758
NM_001164508.2(NEB):c.6813_6814del (p.Leu2271_Tyr2272insTer)	rs1180339426
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs)	rs878854368
NM_001164508.2(NEB):c.7647C>G (p.Tyr2549Ter)	rs1373493309
NM_001164508.2(NEB):c.8038C>T (p.Arg2680Ter)	rs1057516676
NM_001164508.2(NEB):c.8860del (p.Ala2954fs)	rs1553964158
NM_001164508.2(NEB):c.8889+1G>A	rs1553963960
NM_001164508.2(NEB):c.9414+1G>A	rs1255445731
NM_001164508.2(NEB):c.9428C>G (p.Ser3143Ter)	rs1553939806
NM_001164508.2(NEB):c.9465del (p.Ile3156fs)	rs1553939600
NM_001164508.2(NEB):c.9619-1G>A	rs1390379576
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)	rs11230683
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs)	rs786204428
NM_001271208.1(NEB):c.21103delG	rs1553686994
NM_001283009.2(RTEL1):c.2141+5G>A	rs398123050
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu)	rs1470145133
NM_001283009.2(RTEL1):c.3110-2A>C	rs377461417
NM_001283009.2(RTEL1):c.396-74A>C	rs1555899773
NM_001283009.2(RTEL1):c.751G>A (p.Glu251Lys)	rs398123019
NM_001352514.2(HLCS):c.1418dup (p.Glu474fs)	rs1555955827
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter)	rs1393866282
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer)	rs1555930523
NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg)	rs1555885056
NM_001352514.2(HLCS):c.2268_2270del (p.Thr757del)	rs1555882090
NM_001354629.2(MLH1):c.208-3445_208-3433del	rs1057517543
NM_001360.3(DHCR7):c.1004del (p.Pro335fs)	rs1555145646
NM_001360.3(DHCR7):c.1057del (p.Val353fs)	rs759720450
NM_001360.3(DHCR7):c.1066del (p.His356fs)	rs774291653
NM_001360.3(DHCR7):c.1079T>C (p.Leu360Pro)	rs1555145619
NM_001360.3(DHCR7):c.1097G>T (p.Gly366Val)	rs1555145614
NM_001360.3(DHCR7):c.1210C>A (p.Arg404Ser)	rs61757582
NM_001360.3(DHCR7):c.1210C>G (p.Arg404Gly)	rs61757582
NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln)	rs80338864
NM_001360.3(DHCR7):c.1348del (p.Arg450fs)	rs886042362
NM_001360.3(DHCR7):c.1376G>A (p.Trp459Ter)	rs1555145550
NM_001360.3(DHCR7):c.1384T>C (p.Tyr462His)	rs201270451
NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro)	rs201150384
NM_001360.3(DHCR7):c.1426T>C (p.Ter476Gln)	rs775034584
NM_001360.3(DHCR7):c.16C>T (p.Gln6Ter)	rs1057516977
NM_001360.3(DHCR7):c.296T>C (p.Leu99Pro)	rs104886041
NM_001360.3(DHCR7):c.385_412+5del	rs746482788
NM_001360.3(DHCR7):c.433A>C (p.Ile145Leu)	rs1555146475
NM_001360.3(DHCR7):c.461C>T (p.Thr154Met)	rs143312232
NM_001360.3(DHCR7):c.704T>C (p.Phe235Ser)	rs1555146061
NM_001360.3(DHCR7):c.740C>T (p.Ala247Val)	rs886041354
NM_001360.3(DHCR7):c.803del (p.Asn268fs)	rs1555146023
NM_001360.3(DHCR7):c.808A>G (p.Met270Val)	rs1555146021
NM_001360.3(DHCR7):c.874del (p.Tyr291_Leu292insTer)	rs1555145874
NM_001360.3(DHCR7):c.915C>G (p.Tyr305Ter)	rs1555145867
NM_001360.3(DHCR7):c.939G>A (p.Trp313Ter)	rs1555145862
NM_001360.3(DHCR7):c.952del (p.Tyr318fs)	rs1555145859
NM_001360.3(DHCR7):c.963+1G>T	rs1057516973
NM_001360.3(DHCR7):c.963+2T>G	rs1057517070
NM_001360.3(DHCR7):c.964-1G>T	rs138659167
NM_001360.3(DHCR7):c.970T>C (p.Tyr324His)	rs1173707321
NM_001360.3(DHCR7):c.991C>T (p.Gln331Ter)	rs1057516610
NM_001365088.1(SLC12A6):c.1118+1G>A	rs762730861
NM_001365088.1(SLC12A6):c.571_572dup (p.Tyr192fs)	rs775111365
NM_001369.3(DNAH5):c.1090-8T>C	rs16902950
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter)	rs1273352530
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile)	rs786204242
NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp)	rs794728620
NM_001370259.2(MEN1):c.655-5dup	rs772016629
NM_001370259.2(MEN1):c.784-19TC[2]	rs764290037
NM_001370658.1(BTD):c.*159G>A	rs530872564
NM_001370658.1(BTD):c.-17+1G>A	rs1057516440
NM_001370658.1(BTD):c.-18A>T	rs143058480
NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter)	rs747548016
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)	rs397514434
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)	rs672601248
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)	rs397514404
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg)	rs397514408
NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs)	rs1057517225
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter)	rs397514416
NM_001370658.1(BTD):c.1264del (p.Val422fs)	rs1057517362
NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu)	rs397514402
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr)	rs397514418
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs)	rs1553654142
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu)	rs146600671
NM_001370658.1(BTD):c.1328G>A (p.Cys443Tyr)	rs397514421
NM_001370658.1(BTD):c.1350dup (p.Cys451fs)	rs886041559
NM_001370658.1(BTD):c.1401G>A (p.Trp467Ter)	rs1553654186
NM_001370658.1(BTD):c.142_145dup (p.Leu49fs)	rs1205964567
NM_001370658.1(BTD):c.1495dup (p.Tyr499fs)	rs1553654220
NM_001370658.1(BTD):c.1503del (p.Arg502fs)	rs1163419871
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro)	rs397514333
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)	rs80338686
NM_001370658.1(BTD):c.185C>T (p.Ala62Val)	rs397507171
NM_001370658.1(BTD):c.188T>C (p.Leu63Ser)	rs397514347
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)	rs397514348
NM_001370658.1(BTD):c.239C>T (p.Ala80Val)	rs1553652171
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter)	rs1553653062
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly)	rs397514354
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr)	rs397514357
NM_001370658.1(BTD):c.47dup (p.Tyr16Ter)	rs1057516812
NM_001370658.1(BTD):c.527del (p.Thr176fs)	rs1553653680
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)	rs397507174
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)	rs397514389
NM_001370658.1(BTD):c.806C>T (p.Ala269Val)	rs1057520533
NM_001370658.1(BTD):c.874G>A (p.Gly292Ser)	rs397514396
NM_001370658.1(BTD):c.932_941del (p.His311fs)	rs773137513
NM_001378454.1(ALMS1):c.10079-11C>A	rs368250605
NM_001378454.1(ALMS1):c.10079-19A>G	rs935864365
NM_001378454.1(ALMS1):c.10079-4C>G	rs1446726516
NM_001378454.1(ALMS1):c.10131dup (p.Gln3378fs)	rs1553416867
NM_001378454.1(ALMS1):c.10368A>G (p.Leu3456=)	rs929142880
NM_001378454.1(ALMS1):c.10385-7T>G	rs1298945759
NM_001378454.1(ALMS1):c.10535_10536insTGTCTTTCCAAGATTGGAA (p.Lys3512fs)	rs1220975714
NM_001378454.1(ALMS1):c.10546C>T (p.Gln3516Ter)	rs375019820
NM_001378454.1(ALMS1):c.10731T>C (p.Ile3577=)	rs1553418487
NM_001378454.1(ALMS1):c.10797_10800del (p.Glu3600fs)	rs1553418500
NM_001378454.1(ALMS1):c.11083del (p.Ser3695fs)	rs1412574975
NM_001378454.1(ALMS1):c.11669-11del	rs1261279730
NM_001378454.1(ALMS1):c.11669-14A>G	rs768036112
NM_001378454.1(ALMS1):c.11700del (p.Lys3900fs)	rs1553421626
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs)	rs932538480
NM_001378454.1(ALMS1):c.11809dup (p.Met3937fs)	rs757722767
NM_001378454.1(ALMS1):c.11873-11G>T	rs571456553
NM_001378454.1(ALMS1):c.11873-4G>A	rs1553421697
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs)	rs761292021
NM_001378454.1(ALMS1):c.12083_12086del (p.Leu4028fs)	rs1553421741
NM_001378454.1(ALMS1):c.12150C>A (p.Ser4050=)	rs1553421877
NM_001378454.1(ALMS1):c.12299-14C>T	rs1352077204
NM_001378454.1(ALMS1):c.12299-15T>C	rs1553422033
NM_001378454.1(ALMS1):c.12299-15_12299-12del	rs775452962
NM_001378454.1(ALMS1):c.12363-6T>G	rs1553422641
NM_001378454.1(ALMS1):c.12462+1del	rs750907119
NM_001378454.1(ALMS1):c.12463-10T>C	rs754172101
NM_001378454.1(ALMS1):c.12463-9C>G	rs1553422761
NM_001378454.1(ALMS1):c.1339-20C>T	rs1553401589
NM_001378454.1(ALMS1):c.1339-5A>G	rs373469023
NM_001378454.1(ALMS1):c.1339-5A>T	rs373469023
NM_001378454.1(ALMS1):c.1339-8C>T	rs1553401596
NM_001378454.1(ALMS1):c.1610_1611del (p.Leu537fs)	rs1553403282
NM_001378454.1(ALMS1):c.20del (p.Pro7fs)	rs1340135231
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs)	rs771459937
NM_001378454.1(ALMS1):c.2221dup (p.Thr741fs)	rs769291842
NM_001378454.1(ALMS1):c.2293_2296del (p.Ser765fs)	rs1457500348
NM_001378454.1(ALMS1):c.2752dup (p.Ser918fs)	rs1230351650
NM_001378454.1(ALMS1):c.2T>G (p.Met1Arg)	rs1553396091
NM_001378454.1(ALMS1):c.325-8A>C	rs200740825
NM_001378454.1(ALMS1):c.3337del (p.Glu1113fs)	rs1553403656
NM_001378454.1(ALMS1):c.359_360del (p.Ile120fs)	rs1553398842
NM_001378454.1(ALMS1):c.4249del (p.Arg1417fs)	rs1553403851
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs)	rs1553404020
NM_001378454.1(ALMS1):c.5462del (p.Pro1821fs)	rs770264966
NM_001378454.1(ALMS1):c.57G>A (p.Glu19=)	rs866503570
NM_001378454.1(ALMS1):c.5978_5979del (p.Lys1993fs)	rs1553404180
NM_001378454.1(ALMS1):c.6433C>A (p.Arg2145=)	rs770558150
NM_001378454.1(ALMS1):c.647-4A>G	rs1553400427
NM_001378454.1(ALMS1):c.6483_6486del (p.Thr2162fs)	rs1553404252
NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs)	rs1553404310
NM_001378454.1(ALMS1):c.6797T>A (p.Leu2266Ter)	rs761071372
NM_001378454.1(ALMS1):c.6837del (p.Pro2280fs)	rs1553404337
NM_001378454.1(ALMS1):c.6898del (p.Val2300fs)	rs1553404358
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs)	rs1553404377
NM_001378454.1(ALMS1):c.7226del (p.Thr2409fs)	rs1553404423
NM_001378454.1(ALMS1):c.7237dup (p.Ser2413fs)	rs1553404426
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs)	rs1370417967
NM_001378454.1(ALMS1):c.7541-4C>G	rs1380143996
NM_001378454.1(ALMS1):c.765-6T>A	rs755762723
NM_001378454.1(ALMS1):c.7675-7C>T	rs1553409573
NM_001378454.1(ALMS1):c.780G>A (p.Lys260=)	rs1553400683
NM_001378454.1(ALMS1):c.7827del (p.Ser2610fs)	rs1553409617
NM_001378454.1(ALMS1):c.803_805del (p.Ser268_Arg269delinsTer)	rs758952057
NM_001378454.1(ALMS1):c.8133del (p.Phe2711fs)	rs1553409683
NM_001378454.1(ALMS1):c.8141_8148del (p.Ser2714fs)	rs1553409686
NM_001378454.1(ALMS1):c.8152dup (p.Ser2718fs)	rs1553409691
NM_001378454.1(ALMS1):c.8349_8352del (p.Lys2783_Glu2784insTer)	rs1553409710
NM_001378454.1(ALMS1):c.8718dup (p.Ser2907fs)	rs1553409764
NM_001378454.1(ALMS1):c.8756_8759del (p.Pro2919fs)	rs1553409774
NM_001378454.1(ALMS1):c.8790dup (p.Glu2931Ter)	rs1553409778
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs)	rs1553409851
NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup)	rs746896173
NM_001378454.1(ALMS1):c.9540-7dup	rs750386293
NM_001378454.1(ALMS1):c.9782-11dup	rs1553414055
NM_001378454.1(ALMS1):c.9782-6C>T	rs1414733616
NM_001378454.1(ALMS1):c.9782-8C>T	rs1553414061
NM_001378454.1(ALMS1):c.9908-13C>G	rs373325114
NM_001378454.1(ALMS1):c.9908-15C>G	rs1389556610
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter)	rs1057517251
NM_001384140.1(PCDH15):c.274C>T (p.Gln92Ter)	rs143842048
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs)	rs758685587
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His)	rs45483395
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs)	rs770832663
NM_001384140.1(PCDH15):c.3717+1G>A	rs748706627
NM_001384140.1(PCDH15):c.705+1G>A	rs1554903842
NM_001384474.1(LOXHD1):c.2816AGA[3] (p.Lys942del)	rs142960762
NM_001692.4(ATP6V1B1):c.484G>T (p.Glu162Ter)	rs1553419751
NM_001875.5(CPS1):c.1187C>A (p.Ser396Ter)	rs961015305
NM_001875.5(CPS1):c.1323dup (p.Asp442Ter)	rs1553511789
NM_001875.5(CPS1):c.1760G>A (p.Arg587His)	rs1553512642
NM_001875.5(CPS1):c.1775dup (p.Gly594fs)	rs1341782266
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter)	rs202107577
NM_001875.5(CPS1):c.2227del (p.Ala742_Leu743insTer)	rs781088670
NM_001875.5(CPS1):c.2407C>T (p.Arg803Cys)	rs201716417
NM_001875.5(CPS1):c.2429A>G (p.Gln810Arg)	rs1553513864
NM_001875.5(CPS1):c.25A>T (p.Lys9Ter)	rs1553507167
NM_001875.5(CPS1):c.2959G>T (p.Gly987Cys)	rs1553516443
NM_001875.5(CPS1):c.3952T>G (p.Leu1318Val)	rs769593170
NM_001875.5(CPS1):c.4101+2T>C	rs767575696
NM_001875.5(CPS1):c.594_595del (p.Asn199fs)	rs1553509924
NM_001876.4(CPT1A):c.1163+2T>C	rs1555229059
NM_001876.4(CPT1A):c.1367C>T (p.Ser456Leu)	rs1478167106
NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys)	rs80356791
NM_001876.4(CPT1A):c.1876-1G>A	rs80356798
NM_001876.4(CPT1A):c.1997_1998insAAAA (p.Tyr666Ter)	rs1057516800
NM_001876.4(CPT1A):c.2071C>T (p.Gln691Ter)	rs765161206
NM_001876.4(CPT1A):c.222C>A (p.Tyr74Ter)	rs398123654
NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter)	rs80356774
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys)	rs768389398
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter)	rs794727262
NM_001918.5(DBT):c.1343G>A (p.Trp448Ter)	rs749366506
NM_001918.5(DBT):c.1382C>A (p.Ser461Ter)	rs1553228626
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del)	rs1217050849
NM_001918.5(DBT):c.634C>T (p.Gln212Ter)	rs1553230841
NM_001918.5(DBT):c.725C>G (p.Ser242Ter)	rs201559874
NM_001918.5(DBT):c.788T>C (p.Met263Thr)	rs1553230703
NM_001918.5(DBT):c.872G>T (p.Arg291Leu)	rs775808731
NM_001918.5(DBT):c.939G>C (p.Lys313Asn)	rs398123676
NM_001953.4(TYMP):c.929-6_929-3del	rs201685922
NM_002225.5(IVD):c.102_103del (p.Val35fs)	rs1057517379
NM_002225.5(IVD):c.1179del (p.Leu394fs)	rs786204613
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr)	rs763422682
NM_002225.5(IVD):c.1229_1256del (p.Arg410fs)	rs1555405428
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)	rs2229311
NM_002225.5(IVD):c.349C>T (p.Arg117Ter)	rs776015412
NM_002225.5(IVD):c.457-3_457-2delinsGG	rs786204427
NM_002225.5(IVD):c.744dup (p.Asn249Ter)	rs1057516769
NM_002225.5(IVD):c.785-1G>A	rs1555404784
NM_002225.5(IVD):c.870dup (p.Pro291fs)	rs759159766
NM_002435.3(MPI):c.1023del (p.Val342fs)	rs1555479441
NM_002435.3(MPI):c.1054del	rs752976348
NM_002435.3(MPI):c.166dup (p.Arg56fs)	rs786204593
NM_002435.3(MPI):c.727C>T (p.Gln243Ter)	rs749911553
NM_002435.3(MPI):c.880dup (p.Val294fs)	rs1555479351
NM_002435.3(MPI):c.991del (p.Glu331fs)	rs1555479423
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)	rs767215758
NM_002485.5(NBN):c.105_135del (p.Ile35fs)	rs730881840
NM_002485.5(NBN):c.1124+5A>T	rs587782108
NM_002485.5(NBN):c.1142del (p.Pro381fs)	rs587781969
NM_002485.5(NBN):c.1396del (p.Arg466fs)	rs1349928568
NM_002485.5(NBN):c.156_157del (p.Ser53fs)	rs767454740
NM_002485.5(NBN):c.1587dup (p.Ser530fs)	rs1057516332
NM_002485.5(NBN):c.163_171+3del	rs1057516772
NM_002485.5(NBN):c.1640del (p.Arg546_Ser547insTer)	rs776417262
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)	rs864622143
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer)	rs768378152
NM_002485.5(NBN):c.1848del (p.Glu617fs)	rs1057516611
NM_002485.5(NBN):c.1974del (p.Glu658fs)	rs1057516668
NM_002485.5(NBN):c.2000_2001del (p.Ser667fs)	rs1057516852
NM_002485.5(NBN):c.216_217insTT (p.Lys73fs)	rs1554568348
NM_002485.5(NBN):c.306del (p.Phe102fs)	rs587781305
NM_002485.5(NBN):c.317dup (p.Arg107fs)	rs745355767
NM_002485.5(NBN):c.758C>T (p.Thr253Ile)	rs61754967
NM_002485.5(NBN):c.88_89del (p.Asn30fs)	rs587781718
NM_002485.5(NBN):c.995-2A>G	rs876659521
NM_002529.4(NTRK1):c.1196-1G>A	rs764171953
NM_002617.4(PEX10):c.352C>T (p.Gln118Ter)	rs369965266
NM_002617.4(PEX10):c.830T>C (p.Leu277Pro)	rs724160000
NM_002617.4(PEX10):c.913-2A>C	rs758250423
NM_002691.4(POLD1):c.1384-13C>G	rs536467012
NM_002691.4(POLD1):c.1421T>C (p.Leu474Pro)	rs587777627
NM_002691.4(POLD1):c.1433G>A (p.Ser478Asn)	rs397514632
NM_002691.4(POLD1):c.1494+5C>T	rs565428379
NM_002691.4(POLD1):c.208G>T (p.Val70Phe)	rs147911699
NM_002691.4(POLD1):c.2443TCC[1] (p.Ser816del)	rs763850764
NM_002691.4(POLD1):c.3067+11del	rs780881147
NM_002691.4(POLD1):c.3218+9_3218+10inv
NM_002691.4(POLD1):c.463+8_463+9delinsTT	rs796285537
NM_002691.4(POLD1):c.980C>T (p.Pro327Leu)	rs397514633
NM_002878.4(RAD51D):c.1A>G (p.Met1Val)	rs561425038
NM_002878.4(RAD51D):c.1A>T (p.Met1Leu)	rs561425038
NM_002878.4(RAD51D):c.270_271dup (p.Lys91fs)	rs753862052
NM_002878.4(RAD51D):c.6_13dup (p.Arg5fs)	rs1555570506
NM_002878.4(RAD51D):c.740_741dup (p.Thr248Ter)	rs1555567197
NM_002878.4(RAD51D):c.757C>A (p.Arg253=)	rs137886232
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter)	rs137886232
NM_002878.4(RAD51D):c.81del (p.Val28fs)	rs1064793952
NM_002878.4(RAD51D):c.85del (p.Val29fs)	rs1057517586
NM_002878.4(RAD51D):c.94_95del (p.Val32fs)	rs786203137
NM_003060.4(SLC22A5):c.1252C>T (p.Gln418Ter)	rs1057518297
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile)	rs267607053
NM_003060.4(SLC22A5):c.1403C>G (p.Thr468Arg)	rs386134221
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe)	rs386134222
NM_003060.4(SLC22A5):c.1451-1G>A	rs386134224
NM_003060.4(SLC22A5):c.1458C>A (p.Tyr486Ter)	rs763224132
NM_003060.4(SLC22A5):c.1458C>G (p.Tyr486Ter)	rs763224132
NM_003060.4(SLC22A5):c.1554del (p.Asp519fs)	rs1554088578
NM_003060.4(SLC22A5):c.1556_1559dup (p.Ile521fs)	rs386134225
NM_003060.4(SLC22A5):c.160_166dup (p.Ala56fs)	rs1057516797
NM_003060.4(SLC22A5):c.185G>A (p.Trp62Ter)	rs1554085942
NM_003060.4(SLC22A5):c.1A>G (p.Met1Val)	rs774971089
NM_003060.4(SLC22A5):c.393+1G>A	rs1057517069
NM_003060.4(SLC22A5):c.394-1G>T	rs1057517106
NM_003060.4(SLC22A5):c.3G>T (p.Met1Ile)	rs121908892
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp)	rs121908890
NM_003060.4(SLC22A5):c.52del (p.Gln18fs)	rs1022453298
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del)	rs377767444
NM_003060.4(SLC22A5):c.653-2A>C	rs386134201
NM_003060.4(SLC22A5):c.725G>T (p.Gly242Val)	rs72552728
NM_003640.5(ELP1):c.169T>C (p.Leu57=)	rs886063349
NM_003640.5(ELP1):c.641del (p.Pro214fs)	rs759412460
NM_004004.6(GJB2):c.119C>G (p.Ala40Gly)	rs111033296
NM_004004.6(GJB2):c.176_191del (p.Gly59fs)	rs750188782
NM_004004.6(GJB2):c.187G>T (p.Val63Leu)	rs370696868
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.35G>A (p.Gly12Asp)	rs1801002
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)	rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs)	rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs)	rs80338939
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)	rs111033196
NM_004004.6(GJB2):c.385G>T (p.Glu129Ter)	rs397516875
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter)	rs111033420
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg)	rs786204597
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr)	rs1057517519
NM_004004.6(GJB2):c.632_633del (p.Cys211fs)	rs587783646
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)	rs587783647
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)	rs371024165
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)	rs111033190
NM_004006.3(DMD):c.2804-1G>T	rs398123909
NM_004168.4(SDHA):c.-7A>C	rs751633537
NM_004168.4(SDHA):c.1A>T (p.Met1Leu)	rs1061517
NM_004168.4(SDHA):c.2T>C (p.Met1Thr)	rs750380279
NM_004329.3(BMPR1A):c.1059A>G (p.Gln353=)	rs1060503407
NM_004329.3(BMPR1A):c.1167-13T>G	rs1057517581
NM_004329.3(BMPR1A):c.1502C>G (p.Ser501Ter)	rs1554891649
NM_004329.3(BMPR1A):c.676-8C>A	rs1554890727
NM_004329.3(BMPR1A):c.953A>G (p.Tyr318Cys)	rs587778111
NM_004329.3(BMPR1A):c.993G>A (p.Leu331=)	rs786202827
NM_004360.5(CDH1):c.1137G>A (p.Thr379=)	rs587783050
NM_004360.5(CDH1):c.1138-15C>G	rs752733398
NM_004360.5(CDH1):c.12G>A (p.Trp4Ter)	rs1555509636
NM_004360.5(CDH1):c.1308G>A (p.Leu436=)	rs557551011
NM_004360.5(CDH1):c.1565+1G>A	rs587780113
NM_004360.5(CDH1):c.1712-8T>C	rs1060504172
NM_004360.5(CDH1):c.1895_1896del (p.His632fs)	rs1060501224
NM_004360.5(CDH1):c.1921C>T (p.Gln641Ter)	rs587782750
NM_004360.5(CDH1):c.1942G>T (p.Glu648Ter)	rs971882211
NM_004360.5(CDH1):c.2245C>T (p.Arg749Trp)	rs776975632
NM_004360.5(CDH1):c.2282_2284del (p.Gly761del)	rs878854683
NM_004360.5(CDH1):c.2296-1G>A	rs1057517542
NM_004360.5(CDH1):c.300C>G (p.Val100=)	rs786201463
NM_004360.5(CDH1):c.32TGC[6] (p.Leu15dup)	rs587782476
NM_004360.5(CDH1):c.49-16C>G	rs1057517618
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg)	rs587780537
NM_004360.5(CDH1):c.720del (p.Asn240fs)	rs1131690819
NM_004628.5(XPC):c.103+1G>A	rs1423398589
NM_004628.5(XPC):c.1185G>A (p.Lys395=)	rs886058051
NM_004628.5(XPC):c.2033+5G>A	rs374329989
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter)	rs754775337
NM_004628.5(XPC):c.622-2A>G	rs201940931
NM_004628.5(XPC):c.779+1G>A	rs975121308
NM_004628.5(XPC):c.958C>T (p.Gln320Ter)	rs867461743
NM_004646.3(NPHS1):c.1758-8_1785del	rs386833891
NM_004646.4(NPHS1):c.1020del (p.Ser341fs)	rs1555763372
NM_004646.4(NPHS1):c.1234G>T (p.Gly412Cys)	rs142008044
NM_004646.4(NPHS1):c.1307_1308dup (p.Val437fs)	rs386833878
NM_004646.4(NPHS1):c.139del (p.Ala47fs)	rs386833882
NM_004646.4(NPHS1):c.1757+1G>A	rs1555762591
NM_004646.4(NPHS1):c.2156_2163del (p.Leu719fs)	rs386833903
NM_004646.4(NPHS1):c.2515del (p.Gln839fs)	rs386833918
NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys)	rs778951863
NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser)	rs138173172
NM_004646.4(NPHS1):c.2783C>A (p.Ser928Ter)	rs386833926
NM_004646.4(NPHS1):c.3061dup (p.Asp1021fs)	rs34124941
NM_004646.4(NPHS1):c.3250del (p.Val1084fs)	rs386833935
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)	rs386833935
NM_004646.4(NPHS1):c.3286+5G>A	rs1555759089
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser)	rs143092783
NM_004646.4(NPHS1):c.3622_3625del (p.Asp1208fs)	rs1186290245
NM_004646.4(NPHS1):c.468C>G (p.Tyr156Ter)	rs386833943
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.609-2A>C	rs386833955
NM_004646.4(NPHS1):c.619del (p.Arg207fs)	rs778217926
NM_004646.4(NPHS1):c.736G>T (p.Glu246Ter)	rs386833959
NM_004646.4(NPHS1):c.866G>A (p.Trp289Ter)	rs781584590
NM_004937.3(CTNS):c.225+5_225+8del	rs1555561048
NM_004937.3(CTNS):c.292dup (p.Thr98fs)	rs786204434
NM_004937.3(CTNS):c.323del (p.Gln108fs)	rs879255615
NM_004937.3(CTNS):c.329+2T>C	rs955833453
NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer)	rs1555558099
NM_004937.3(CTNS):c.559_561+24del	rs113994211
NM_004937.3(CTNS):c.561+1del	rs786204667
NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del)	rs760256854
NM_004937.3(CTNS):c.696_697dup (p.Val233fs)	rs1555563982
NM_004937.3(CTNS):c.734G>A (p.Trp245Ter)	rs763089013
NM_004937.3(CTNS):c.73A>T (p.Ser25Cys)	rs777367316
NM_004937.3(CTNS):c.771_793del (p.Gly258fs)	rs759623796
NM_004937.3(CTNS):c.809_811del (p.Ser270del)	rs786204632
NM_004937.3(CTNS):c.853-2A>G	rs1475322504
NM_004937.3(CTNS):c.926dup (p.Ser310fs)	rs786204420
NM_005359.6(SMAD4):c.172A>G (p.Ile58Val)	rs786204166
NM_005359.6(SMAD4):c.910G>A (p.Val304Ile)	rs375185293
NM_005476.7(GNE):c.1057A>G (p.Lys353Glu)	rs1554660090
NM_005476.7(GNE):c.1306C>T (p.Gln436Ter)	rs786204558
NM_005476.7(GNE):c.1543_1544del (p.Asp515fs)	rs1057516657
NM_005476.7(GNE):c.1583T>G (p.Phe528Cys)	rs986773986
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr)	rs387906347
NM_005476.7(GNE):c.2086G>A (p.Val696Met)	rs121908627
NM_005476.7(GNE):c.211A>T (p.Arg71Trp)	rs886044539
NM_005476.7(GNE):c.22C>T (p.Arg8Ter)	rs766420673
NM_005476.7(GNE):c.385C>T (p.Arg129Ter)	rs372872777
NM_005476.7(GNE):c.386G>A (p.Arg129Gln)	rs748704459
NM_005476.7(GNE):c.484C>T (p.Arg162Cys)	rs769215411
NM_005476.7(GNE):c.616+1del	rs1554663295
NM_005476.7(GNE):c.893T>C (p.Ile298Thr)	rs757091387
NM_005476.7(GNE):c.910G>A (p.Gly304Arg)	rs755743750
NM_005562.3(LAMC2):c.1065C>G (p.Tyr355Ter)	rs118203899
NM_005562.3(LAMC2):c.667C>T (p.Arg223Ter)	rs753268823
NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter)	rs371077728
NM_005591.4(MRE11):c.315-4del	rs35062043
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val)	rs1465752595
NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter)	rs752848974
NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter)	rs119103260
NM_005609.4(PYGM):c.1797del (p.Phe599fs)	rs769960481
NM_005609.4(PYGM):c.1970-1G>A	rs1057516598
NM_005609.4(PYGM):c.198del (p.Arg67fs)	rs750857876
NM_005609.4(PYGM):c.1A>G (p.Met1Val)	rs267606993
NM_005609.4(PYGM):c.1A>T (p.Met1Leu)	rs267606993
NM_005609.4(PYGM):c.204G>A (p.Trp68Ter)	rs1057516349
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del)	rs527236147
NM_005609.4(PYGM):c.2262del (p.Lys754fs)	rs398124210
NM_005609.4(PYGM):c.2319del (p.Val774fs)	rs1462767117
NM_005609.4(PYGM):c.2380-1G>A	rs1555133248
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)	rs119103258
NM_005609.4(PYGM):c.251_261del (p.Tyr84fs)	rs1057516329
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter)	rs527236146
NM_005609.4(PYGM):c.370G>T (p.Glu124Ter)	rs1555136459
NM_005609.4(PYGM):c.407del (p.Gly136fs)	rs786204723
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp)	rs367990192
NM_005609.4(PYGM):c.425-2A>G	rs752851284
NM_005609.4(PYGM):c.521G>A (p.Gly174Asp)	rs1555136375
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter)	rs149201802
NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs)	rs1060501941
NM_005732.4(RAD50):c.3164+14del	rs148895884
NM_006019.4(TCIRG1):c.117+4A>T	rs751881962
NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg)	rs137853150
NM_006019.4(TCIRG1):c.1305+2T>C	rs1554997818
NM_006019.4(TCIRG1):c.1554+1G>T	rs1439348400
NM_006019.4(TCIRG1):c.1555-2A>C	rs758977199
NM_006019.4(TCIRG1):c.1891del (p.Val631fs)	rs1300297240
NM_006019.4(TCIRG1):c.2414G>A (p.Trp805Ter)	rs1555000308
NM_006019.4(TCIRG1):c.242del (p.Pro81fs)	rs1208311085
NM_006019.4(TCIRG1):c.480dup (p.Pro161fs)	rs1554995341
NM_006019.4(TCIRG1):c.713+1G>T	rs774308815
NM_006231.4(POLE):c.1106+7C>A	rs369889926
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile)	rs5744799
NM_006231.4(POLE):c.2932G>T (p.Glu978Ter)	rs1555225958
NM_006261.5(PROP1):c.112_124del (p.Ser38fs)	rs587776682
NM_006261.5(PROP1):c.2T>C (p.Met1Thr)	rs1554182645
NM_006261.5(PROP1):c.310del (p.Arg104fs)	rs786204663
NM_006261.5(PROP1):c.343-2A>T	rs1057517041
NM_006261.5(PROP1):c.582G>A (p.Trp194Ter)	rs121917845
NM_006261.5(PROP1):c.611del (p.Gly204fs)	rs1554182368
NM_006261.5(PROP1):c.629dup (p.Pro211fs)	rs761018422
NM_006432.5(NPC2):c.3G>A (p.Met1Ile)	rs483352893
NM_006432.5(NPC2):c.417CTG[1] (p.Cys140del)	rs781255433
NM_006432.5(NPC2):c.422G>A (p.Trp141Ter)	rs1555345616
NM_006432.5(NPC2):c.436C>T (p.Gln146Ter)	rs104894457
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter)	rs386833972
NM_006493.4(CLN5):c.438del (p.His148fs)	rs1555273992
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer)	rs587780315
NM_006493.4(CLN5):c.777_778del (p.Phe260fs)	rs786204644
NM_006493.4(CLN5):c.84G>A (p.Trp28Ter)	rs200348035
NM_006493.4(CLN5):c.907G>T (p.Glu303Ter)	rs121908292
NM_006493.4(CLN5):c.958C>T (p.Gln320Ter)	rs750935331
NM_006623.4(PHGDH):c.403C>T (p.Arg135Trp)	rs267606949
NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln)	rs587777483
NM_007194.3(CHEK2):c.909delG	rs1057517596
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)	rs587782527
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)	rs371418985
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter)	rs778989252
NM_007194.4(CHEK2):c.135G>A (p.Thr45=)	rs745423387
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs)	rs1555912044
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln)	rs587782489
NM_007194.4(CHEK2):c.1522dup (p.Leu508fs)	rs1555912001
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)	rs200432447
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter)	rs768384031
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])	rs587780181
NM_007194.4(CHEK2):c.247del (p.Gln83fs)	rs587782766
NM_007194.4(CHEK2):c.363_364del (p.Cys121_Glu122delinsTer)	rs1555927312
NM_007194.4(CHEK2):c.444+1G>T	rs121908698
NM_007194.4(CHEK2):c.474A>G (p.Ala158=)	rs745699485
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)	rs587782008
NM_007194.4(CHEK2):c.591del (p.Val198fs)	rs587782245
NM_007194.4(CHEK2):c.593-11_593-7del	rs863224414
NM_007194.4(CHEK2):c.593-14C>G	rs145754558
NM_007194.4(CHEK2):c.593-15T>A	rs757717459
NM_007194.4(CHEK2):c.683+1G>T	rs786203650
NM_007194.4(CHEK2):c.793-1G>A	rs730881687
NM_007194.4(CHEK2):c.847-6T>G	rs1555917050
NM_007194.4(CHEK2):c.84C>A (p.Ser28=)	rs863224415
NM_007194.4(CHEK2):c.860del (p.Lys287fs)	rs886039731
NM_007194.4(CHEK2):c.882AGA[1] (p.Glu295del)	rs771860071
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter)	rs876659519
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter)	rs886039739
NM_007194.4(CHEK2):c.902del (p.Leu301fs)	rs748005072
NM_007194.4(CHEK2):c.909-28_909-20del	rs1555915597
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del)	rs80358325
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg)	rs80357164
NM_007294.4(BRCA1):c.122A>T (p.His41Leu)	rs80357276
NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser)	rs80357327
NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr)	rs80357446
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)	rs80357446
NM_007294.4(BRCA1):c.1418A>G (p.Asn473Ser)	rs80357057
NM_007294.4(BRCA1):c.1418A>T (p.Asn473Ile)	rs80357057
NM_007294.4(BRCA1):c.182_183del (p.Cys61fs)	rs397508912
NM_007294.4(BRCA1):c.1834A>G (p.Arg612Gly)	rs80357245
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del)	rs80358329
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)	rs55851803
NM_007294.4(BRCA1):c.1927A>G (p.Ser643Gly)	rs80357105
NM_007294.4(BRCA1):c.2043dup (p.Asn682Ter)	rs863224510
NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter)	rs80357298
NM_007294.4(BRCA1):c.2130T>G (p.Thr710=)	rs273898678
NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs)	rs273898681
NM_007294.4(BRCA1):c.2232T>C (p.Ala744=)	rs4986846
NM_007294.4(BRCA1):c.230C>G (p.Thr77Arg)	rs80357209
NM_007294.4(BRCA1):c.2518A>T (p.Ser840Cys)	rs377475866
NM_007294.4(BRCA1):c.2630del (p.Asn877fs)	rs886038002
NM_007294.4(BRCA1):c.2668G>A (p.Gly890Arg)	rs80357200
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs)	rs80357596
NM_007294.4(BRCA1):c.2915del (p.Gly972fs)	rs80357573
NM_007294.4(BRCA1):c.2967T>A (p.Phe989Leu)	rs876659270
NM_007294.4(BRCA1):c.2T>C (p.Met1Thr)	rs80357111
NM_007294.4(BRCA1):c.3001G>T (p.Glu1001Ter)	rs886038007
NM_007294.4(BRCA1):c.3048T>G (p.Asn1016Lys)	rs879255482
NM_007294.4(BRCA1):c.3138_3141del (p.Gly1048fs)	rs1064794177
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs)	rs80357635
NM_007294.4(BRCA1):c.3263T>A (p.Val1088Asp)	rs80356901
NM_007294.4(BRCA1):c.3285del (p.Lys1095fs)	rs397509051
NM_007294.4(BRCA1):c.3327_3329del (p.Lys1110del)	rs80357575
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del)	rs80358335
NM_007294.4(BRCA1):c.3342_3345del (p.Glu1114_Glu1115insTer)	rs397509058
NM_007294.4(BRCA1):c.3351dup (p.Gln1118fs)	rs80357785
NM_007294.4(BRCA1):c.3367G>T (p.Asp1123Tyr)	rs80356867
NM_007294.4(BRCA1):c.3410T>C (p.Met1137Thr)	rs80357297
NM_007294.4(BRCA1):c.3415AGT[1] (p.Ser1140del)	rs80358337
NM_007294.4(BRCA1):c.3424G>C (p.Ala1142Pro)	rs80357101
NM_007294.4(BRCA1):c.346del (p.Glu116fs)	rs762635795
NM_007294.4(BRCA1):c.3600G>C (p.Gln1200His)	rs56214134
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter)	rs80356923
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)	rs80357868
NM_007294.4(BRCA1):c.3895C>T (p.Gln1299Ter)	rs80357038
NM_007294.4(BRCA1):c.4026A>G (p.Ser1342=)	rs80356828
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)	rs80357508
NM_007294.4(BRCA1):c.4146C>A (p.Cys1382Ter)	rs1057517574
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)	rs80357260
NM_007294.4(BRCA1):c.4185+10G>A	rs80358104
NM_007294.4(BRCA1):c.4185+11TG[7]	rs273900723
NM_007294.4(BRCA1):c.4186-10G>A	rs80358172
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly)	rs41293455
NM_007294.4(BRCA1):c.4484+1G>A	rs80358063
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)	rs80357389
NM_007294.4(BRCA1):c.4636G>T (p.Asp1546Tyr)	rs28897691
NM_007294.4(BRCA1):c.4655_4658del (p.Tyr1552fs)	rs80357561
NM_007294.4(BRCA1):c.4657T>A (p.Leu1553Met)	rs80357431
NM_007294.4(BRCA1):c.4837_4838delinsGCC (p.Ser1613fs)	rs730880287
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)	rs80356862
NM_007294.4(BRCA1):c.4986+3G>C	rs80358023
NM_007294.4(BRCA1):c.4986+4A>T	rs80358087
NM_007294.4(BRCA1):c.4986+6T>G	rs80358086
NM_007294.4(BRCA1):c.4987-1G>A	rs730881495
NM_007294.4(BRCA1):c.5075-1G>A	rs1800747
NM_007294.4(BRCA1):c.5095C>A (p.Arg1699=)	rs55770810
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala)	rs80357132
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn)	rs45444999
NM_007294.4(BRCA1):c.5150del (p.Phe1717fs)	rs80357720
NM_007294.4(BRCA1):c.5152+6T>C	rs80358074
NM_007294.4(BRCA1):c.5156del (p.Val1719fs)	rs1057517590
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)	rs80357104
NM_007294.4(BRCA1):c.5186del (p.Leu1729fs)	rs398122692
NM_007294.4(BRCA1):c.5260G>C (p.Glu1754Gln)	rs80357432
NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro)	rs80357281
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys)	rs397509257
NM_007294.4(BRCA1):c.5333-1G>A	rs80358126
NM_007294.4(BRCA1):c.5365G>T (p.Ala1789Ser)	rs80357078
NM_007294.4(BRCA1):c.5383C>T (p.Leu1795Phe)	rs878854958
NM_007294.4(BRCA1):c.5406+53A>T	rs273901766
NM_007294.4(BRCA1):c.5407-21C>T	rs273901768
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter)	rs397509283
NM_007294.4(BRCA1):c.547+14del	rs273902771
NM_007294.4(BRCA1):c.547+1G>A	rs80358030
NM_007294.4(BRCA1):c.548-9del	rs273902774
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)	rs80356959
NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser)	rs398122702
NM_007294.4(BRCA1):c.5536C>T (p.Gln1846Ter)	rs80356873
NM_007294.4(BRCA1):c.5565_5573del (p.Gln1857_Pro1859del)	rs397507253
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser)	rs80357438
NM_007294.4(BRCA1):c.671-18_671-16del	rs398122354
NM_007294.4(BRCA1):c.685del (p.Ser229fs)	rs80357824
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs)	rs80357724
NM_007294.4(BRCA1):c.81-13C>G	rs56328013
NM_007294.4(BRCA1):c.81-14C>T	rs80358006
NM_007294.4(BRCA1):c.81-20C>T	rs80358039
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser)	rs8176153
NM_007294.4(BRCA1):c.869T>A (p.Leu290Ter)	rs730881468
NM_007294.4(BRCA1):c.889A>C (p.Met297Leu)	rs80357196
NM_012203.2(GRHPR):c.337G>T (p.Glu113Ter)	rs180177307
NM_012203.2(GRHPR):c.493+2T>A	rs180177313
NM_012203.2(GRHPR):c.866_867del (p.Val289fs)	rs180177321
NM_012203.2(GRHPR):c.867_870dup (p.Leu291fs)	rs1554749639
NM_012203.2(GRHPR):c.889G>A (p.Ala297Thr)	rs200632069
NM_012203.2(GRHPR):c.954_955del (p.Glu320fs)	rs1554749672
NM_012434.5(SLC17A5):c.1121del (p.Gly374fs)	rs1057517119
NM_012434.5(SLC17A5):c.204del (p.Asp69fs)	rs1057516549
NM_012434.5(SLC17A5):c.349dup (p.Tyr117fs)	rs772039085
NM_012434.5(SLC17A5):c.409del (p.Met137fs)	rs794729653
NM_012434.5(SLC17A5):c.905del (p.Asn302fs)	rs771156053
NM_012434.5(SLC17A5):c.909G>A (p.Trp303Ter)	rs1057516601
NM_013339.4(ALG6):c.1136del (p.Pro379fs)	rs1553156884
NM_013339.4(ALG6):c.1167del (p.Ser390fs)	rs769698652
NM_013339.4(ALG6):c.1194dup (p.Ile399fs)	rs1207096732
NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter)	rs1553157428
NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter)	rs780528545
NM_013339.4(ALG6):c.65_66insAAGA (p.Leu23fs)	rs1553153399
NM_014244.5(ADAMTS2):c.2384G>A (p.Trp795Ter)	rs137853147
NM_014249.4(NR2E3):c.194_202del (p.Asn65_Cys67del)	rs1555454566
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs)	rs786204416
NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter)	rs755186798
NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs)	rs779338945
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)	rs565203731
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter)	rs141315518
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs)	rs1057516365
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter)	rs1555249555
NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs)	rs1555249425
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs)	rs786204628
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs)	rs1057517294
NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter)	rs747868017
NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp)	rs1178912631
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)	rs752059006
NM_014363.6(SACS):c.2224C>T (p.Arg742Ter)	rs1057517285
NM_014363.6(SACS):c.3328dup (p.Ile1110fs)	rs770866403
NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter)	rs144267558
NM_014363.6(SACS):c.6172del (p.Ser2058fs)	rs1214399996
NM_014363.6(SACS):c.6663del (p.Lys2221fs)	rs1555251699
NM_014363.6(SACS):c.7139del (p.Asn2380fs)	rs1057516689
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)	rs786204750
NM_014363.6(SACS):c.7713A>T (p.Pro2571=)	rs557113294
NM_014363.6(SACS):c.815G>A (p.Arg272His)	rs745907077
NM_014363.6(SACS):c.832C>T (p.Gln278Ter)	rs1555254439
NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs)	rs753012964
NM_014363.6(SACS):c.8793del (p.Lys2931fs)	rs767871841
NM_014363.6(SACS):c.9625_9628del (p.Phe3209fs)	rs1555250557
NM_014625.4(NPHS2):c.156del (p.Thr53fs)	rs1272948499
NM_014625.4(NPHS2):c.467dup (p.Leu156fs)	rs528833893
NM_014625.4(NPHS2):c.502C>T (p.Arg168Cys)	rs786204583
NM_014625.4(NPHS2):c.586C>T (p.Arg196Ter)	rs12568913
NM_014625.4(NPHS2):c.685C>T (p.Arg229Ter)	rs1057516414
NM_014625.4(NPHS2):c.738+2T>C	rs1212702104
NM_014625.4(NPHS2):c.862G>A (p.Ala288Thr)	rs1490010141
NM_014625.4(NPHS2):c.873+1G>A	rs1553312833
NM_014625.4(NPHS2):c.964C>T (p.Arg322Ter)	rs763818901
NM_014625.4(NPHS2):c.965G>A (p.Arg322Gln)	rs776859868
NM_014625.4(NPHS2):c.979C>T (p.Leu327Phe)	rs748203170
NM_014844.5(TECPR2):c.1397AGA[5] (p.Lys471del)	rs572609303
NM_015120.4(ALMS1):c.54_77del (p.Glu22_Glu29del)	rs55889738
NM_015166.4(MLC1):c.324del (p.Asn110fs)	rs786204747
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg)	rs281875317
NM_015166.4(MLC1):c.654C>A (p.Asn218Lys)	rs41302601
NM_015166.4(MLC1):c.824C>A (p.Ala275Asp)	rs764669598
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys)	rs281875313
NM_015346.4(ZFYVE26):c.2338C>T (p.Arg780Ter)	rs941230062
NM_015346.4(ZFYVE26):c.2554-1G>C	rs760559263
NM_015346.4(ZFYVE26):c.4132C>T (p.Arg1378Ter)	rs774809466
NM_015346.4(ZFYVE26):c.7041C>A (p.Cys2347Ter)	rs370837940
NM_015506.3(MMACHC):c.277-8_277-3dup	rs756072947
NM_015506.3(MMACHC):c.285dup (p.Glu96fs)	rs1553162821
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr)	rs574983400
NM_015506.3(MMACHC):c.2T>G (p.Met1Arg)	rs574983400
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs)	rs1311416761
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)	rs121918240
NM_015506.3(MMACHC):c.395_397del (p.Arg132del)	rs1455190457
NM_015506.3(MMACHC):c.427C>T (p.Gln143Ter)	rs1553162868
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del)	rs747550590
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)	rs140522266
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp)	rs1553162910
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter)	rs1002571805
NM_015506.3(MMACHC):c.497dup (p.Pro167fs)	rs1481893137
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs)	rs1553162923
NM_015506.3(MMACHC):c.561_572del (p.Asp188_Ala191del)	rs1553162937
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)	rs200895671
NM_015506.3(MMACHC):c.565del (p.Arg189fs)	rs1257204721
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro)	rs371753672
NM_015506.3(MMACHC):c.626_627del (p.Val209fs)	rs1356587420
NM_015506.3(MMACHC):c.728del (p.Pro243fs)	rs1409915649
NM_015506.3(MMACHC):c.81+2T>G	rs777251123
NM_015506.3(MMACHC):c.82-11_82-8del	rs751236442
NM_015506.3(MMACHC):c.82-1G>A	rs1255179780
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu)	rs201025783
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter)	rs771673343
NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter)	rs751254522
NM_017739.4(POMGNT1):c.1604+2T>C	rs1553162872
NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His)	rs267606962
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro)	rs267606962
NM_017739.4(POMGNT1):c.652+1G>A	rs386834035
NM_017739.4(POMGNT1):c.880-1G>A	rs1317832573
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)	rs754279998
NM_017777.4(MKS1):c.1394del (p.Pro465fs)	rs865870355
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)	rs386834044
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs)	rs774357106
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs)	rs1427643616
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)	rs753112330
NM_018941.4(CLN8):c.507C>T (p.Ser169=)	rs386834131
NM_019098.5(CNGB3):c.112C>T (p.Gln38Ter)	rs786204498
NM_019098.5(CNGB3):c.1366del (p.Arg456fs)	rs1057516878
NM_019098.5(CNGB3):c.1480+1G>A	rs1057516825
NM_019098.5(CNGB3):c.1579-1G>A	rs1057516504
NM_019098.5(CNGB3):c.1781+1del	rs1554607546
NM_019098.5(CNGB3):c.2301_2304dup (p.Ser769fs)	rs199570140
NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter)	rs786204492
NM_019098.5(CNGB3):c.446_447insT (p.Lys149fs)	rs748993388
NM_019098.5(CNGB3):c.991-3T>G	rs773372519
NM_020533.3(MCOLN1):c.1135-1G>C	rs1057516458
NM_020533.3(MCOLN1):c.38_41dup (p.Leu15fs)	rs1555741548
NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter)	rs797044824
NM_020533.3(MCOLN1):c.54dup (p.Asn19fs)	rs1057516602
NM_020533.3(MCOLN1):c.571+2T>C	rs1555741822
NM_020533.3(MCOLN1):c.777+12dup	rs563339019
NM_020975.6(RET):c.2304G>T (p.Glu768Asp)	rs78014899
NM_020975.6(RET):c.2348A>C (p.Asn783Thr)	rs587778656
NM_020975.6(RET):c.2370G>C (p.Leu790Phe)	rs75030001
NM_020975.6(RET):c.2523G>A (p.Pro841=)	rs56195026
NM_020975.6(RET):c.2531G>A (p.Arg844Gln)	rs55947360
NM_024301.5(FKRP):c.1141dup (p.Ala381fs)	rs754403441
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp)	rs28937905
NM_024301.5(FKRP):c.400C>T (p.Arg134Trp)	rs104894690
NM_024301.5(FKRP):c.586G>A (p.Gly196Arg)	rs759875552
NM_024301.5(FKRP):c.586G>C (p.Gly196Arg)	rs759875552
NM_024301.5(FKRP):c.946C>A (p.Pro316Thr)	rs28937901
NM_024312.5(GNPTAB):c.1017_1020dup (p.Pro341fs)	rs748809942
NM_024312.5(GNPTAB):c.1760G>C (p.Arg587Pro)	rs143788461
NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs)	rs747789493
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs)	rs34901902
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs)	rs281864996
NM_024312.5(GNPTAB):c.2617dup (p.Thr873fs)	rs752874974
NM_024312.5(GNPTAB):c.2693del (p.Lys898fs)	rs281864999
NM_024312.5(GNPTAB):c.3707A>G (p.Lys1236Arg)	rs556318081
NM_024312.5(GNPTAB):c.441del (p.Asn148fs)	rs281864955
NM_024312.5(GNPTAB):c.648_651del (p.Glu217fs)	rs281864963
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs)	rs786204701
NM_024649.5(BBS1):c.124+1G>C	rs1057516449
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)	rs768443448
NM_024649.5(BBS1):c.1340-1G>T	rs1555049893
NM_024649.5(BBS1):c.1717C>T (p.Gln573Ter)	rs1450045618
NM_024649.5(BBS1):c.223_224del (p.Leu75fs)	rs1057516451
NM_024649.5(BBS1):c.432+1G>A	rs587777829
NM_024649.5(BBS1):c.480-1G>C	rs1057516933
NM_024649.5(BBS1):c.981del (p.Ala328fs)	rs1057516371
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter)	rs375699023
NM_024675.4(PALB2):c.1288C>T (p.Gln430Ter)	rs1555461358
NM_024675.4(PALB2):c.1366G>T (p.Glu456Ter)	rs1060502785
NM_024675.4(PALB2):c.1485del (p.Asp496fs)	rs1555461256
NM_024675.4(PALB2):c.1490del (p.Asn497fs)	rs1555461253
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)	rs180177143
NM_024675.4(PALB2):c.1838del (p.Gln613fs)	rs1057517602
NM_024675.4(PALB2):c.18G>A (p.Gly6=)	rs587782462
NM_024675.4(PALB2):c.1924del (p.Met642fs)	rs730881865
NM_024675.4(PALB2):c.2067G>T (p.Ser689=)	rs371149159
NM_024675.4(PALB2):c.212-24TA[4]	rs751741705
NM_024675.4(PALB2):c.2130G>A (p.Thr710=)	rs774049060
NM_024675.4(PALB2):c.226del (p.Ile76fs)	rs587782443
NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer)	rs876659571
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs)	rs747148023
NM_024675.4(PALB2):c.2456_2463del (p.Lys819fs)	rs1555460325
NM_024675.4(PALB2):c.2469C>G (p.Leu823=)	rs515726087
NM_024675.4(PALB2):c.2507_2509del (p.Val836del)	rs587782697
NM_024675.4(PALB2):c.2576C>A (p.Ser859Ter)	rs1057517539
NM_024675.4(PALB2):c.2607C>T (p.Ser869=)	rs45542234
NM_024675.4(PALB2):c.2748+1G>C	rs753153576
NM_024675.4(PALB2):c.2749-16_2749-14del	rs765742648
NM_024675.4(PALB2):c.2834+1G>T	rs587776419
NM_024675.4(PALB2):c.2982dup (p.Ala995fs)	rs180177127
NM_024675.4(PALB2):c.2996+9del	rs769414858
NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer)	rs886039683
NM_024675.4(PALB2):c.3116del (p.Asn1039fs)	rs180177133
NM_024675.4(PALB2):c.3202-1G>A	rs515726111
NM_024675.4(PALB2):c.3202-2A>C	rs1060499827
NM_024675.4(PALB2):c.3256del (p.Arg1086fs)	rs1057517600
NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu)	rs201657283
NM_024675.4(PALB2):c.3350+4A>G	rs180177136
NM_024675.4(PALB2):c.3425del (p.Leu1142fs)	rs1057517563
NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter)	rs587782217
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)	rs587776428
NM_024675.4(PALB2):c.3G>A (p.Met1Ile)	rs1057517585
NM_024675.4(PALB2):c.423G>A (p.Gln141=)	rs786202680
NM_024675.4(PALB2):c.444del (p.Lys149fs)	rs1555461796
NM_024675.4(PALB2):c.475G>T (p.Glu159Ter)	rs1555461788
NM_024675.4(PALB2):c.49-2A>T	rs786203245
NM_024675.4(PALB2):c.503C>A (p.Ser168Ter)	rs515726122
NM_024675.4(PALB2):c.508A>G (p.Arg170Gly)	rs864622622
NM_024675.4(PALB2):c.601dup (p.Ser201fs)	rs886041220
NM_024675.4(PALB2):c.620del (p.Pro207fs)	rs1555461704
NM_024675.4(PALB2):c.759del (p.Ser254fs)	rs1060499830
NM_024675.4(PALB2):c.833_834delinsAT (p.Leu278His)	rs587778582
NM_024675.4(PALB2):c.866T>A (p.Leu289Ter)	rs1555461574
NM_024675.4(PALB2):c.999C>T (p.Thr333=)	rs180177096
NM_024685.4(BBS10):c.101G>C (p.Arg34Pro)	rs137852836
NM_024685.4(BBS10):c.1091del (p.Asn364fs)	rs727503818
NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter)	rs759682922
NM_024685.4(BBS10):c.1408del (p.Gln470fs)	rs1555202614
NM_024685.4(BBS10):c.1510_1511del (p.Ile504fs)	rs886043841
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs)	rs770556842
NM_024685.4(BBS10):c.1677C>G (p.Tyr559Ter)	rs375413604
NM_024685.4(BBS10):c.2030del (p.Gly677fs)	rs1064796315
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)	rs775950661
NM_024685.4(BBS10):c.32T>G (p.Val11Gly)	rs137852838
NM_024685.4(BBS10):c.414del (p.Gln139fs)	rs1555202717
NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys)	rs1555202700
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter)	rs863224522
NM_024685.4(BBS10):c.728_731del (p.Lys243fs)	rs786204671
NM_024685.4(BBS10):c.745_746insTA (p.Arg249fs)	rs1555202687
NM_024685.4(BBS10):c.784_785del (p.Glu262fs)	rs1555202681
NM_024685.4(BBS10):c.909_912del (p.Ser303fs)	rs780059308
NM_024685.4(BBS10):c.959_962del (p.Ser320fs)	rs758522600
NM_025136.4(OPA3):c.142+5G>C	rs1250409781
NM_025136.4(OPA3):c.248_251dup (p.Gly85fs)	rs1555732942
NM_025136.4(OPA3):c.415C>T (p.Gln139Ter)	rs28937899
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)	rs193922710
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs)	rs1555521379
NM_031885.5(BBS2):c.471+1G>A	rs1555523584
NM_031885.5(BBS2):c.627_628del (p.Cys210fs)	rs773417074
NM_031885.5(BBS2):c.661del (p.Leu221fs)	rs770258677
NM_031885.5(BBS2):c.717+2T>G	rs1555522893
NM_031885.5(BBS2):c.941-1G>T	rs777234811
NM_031885.5(BBS2):c.941-2A>C	rs878962682
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs)	rs587781985
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)	rs771028677
NM_032520.5(GNPTG):c.234-1G>A	rs112850896
NM_032520.5(GNPTG):c.318-1G>A	rs193302847
NM_032520.5(GNPTG):c.607dup (p.Gln203fs)	rs756225251
NM_032520.5(GNPTG):c.685del (p.Gln229fs)	rs772287534
NM_032520.5(GNPTG):c.750dup (p.Glu251fs)	rs758242017
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs)	rs748086016
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs)	rs1287068204
NM_033305.3(VPS13A):c.9189+2545TGA[6]	rs113052866
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp)	rs104886079
NM_052845.4(MMAB):c.349-1G>C	rs864309510
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter)	rs557884699
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln)	rs773059864
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup)	rs1555274496
NM_052845.4(MMAB):c.660_661del (p.Phe221fs)	rs1383825118
NM_054012.4(ASS1):c.262C>A (p.Leu88Ile)	rs895822620
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu)	rs35269064
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu)	rs201623252
NM_054012.4(ASS1):c.412C>T (p.Gln138Ter)	rs1057516339
NM_054012.4(ASS1):c.450_451del (p.Phe150fs)	rs786204648
NM_054012.4(ASS1):c.773+1G>A	rs982830431
NM_054012.4(ASS1):c.823G>T (p.Gly275Ter)	rs1554723625
NM_054012.4(ASS1):c.931C>T (p.Gln311Ter)	rs1301613270
NM_054012.4(ASS1):c.951del (p.Phe317fs)	rs775791516
NM_058216.3(RAD51C):c.1026+5_1026+7del	rs587781410
NM_058216.3(RAD51C):c.145+2T>G	rs1057517641
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter)	rs387907159
NM_058216.3(RAD51C):c.724G>A (p.Asp242Asn)	rs876659188
NM_058216.3(RAD51C):c.732del (p.Ile244fs)	rs1060502601
NM_058216.3(RAD51C):c.756A>G (p.Leu252=)	rs863224437
NM_058216.3(RAD51C):c.837+1G>T	rs760235677
NM_058216.3(RAD51C):c.93del (p.Phe32fs)	rs730881942
NM_133259.4(LRPPRC):c.135C>T (p.Ala45=)	rs886056061
NM_133259.4(LRPPRC):c.1419T>C (p.Asp473=)	rs886056057
NM_133259.4(LRPPRC):c.4077C>G (p.Tyr1359Ter)	rs148828179
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs)	rs924232072
NM_138413.4(HOGA1):c.110G>T (p.Gly37Val)	rs772722925
NM_138413.4(HOGA1):c.337G>A (p.Glu113Lys)	rs150702945
NM_138413.4(HOGA1):c.535C>A (p.Pro179Thr)	rs374327791
NM_138413.4(HOGA1):c.713del (p.Gly238fs)	rs760930050
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter)	rs398124475
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg)	rs777377414
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs)	rs1057517071
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs)	rs771623148
NM_138694.4(PKHD1):c.10856del (p.Lys3619fs)	rs1554183235
NM_138694.4(PKHD1):c.1095G>A (p.Trp365Ter)	rs1554219429
NM_138694.4(PKHD1):c.10972_10973del (p.Ile3658fs)	rs1057517047
NM_138694.4(PKHD1):c.11212_11213del (p.Ile3738fs)	rs1554176517
NM_138694.4(PKHD1):c.11218C>T (p.Pro3740Ser)	rs1554176504
NM_138694.4(PKHD1):c.11776del (p.Val3926fs)	rs1057517324
NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter)	rs1554229312
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu)	rs750730042
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala)	rs750730042
NM_138694.4(PKHD1):c.1623_1626dup (p.Leu543fs)	rs1554216499
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter)	rs749293235
NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys)	rs786204696
NM_138694.4(PKHD1):c.1A>G (p.Met1Val)	rs376987651
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs)	rs1554212326
NM_138694.4(PKHD1):c.2192C>A (p.Ser731Ter)	rs1057516608
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter)	rs786204707
NM_138694.4(PKHD1):c.3228+1G>T	rs868673401
NM_138694.4(PKHD1):c.3229-2A>C	rs1057516872
NM_138694.4(PKHD1):c.3313del (p.Ser1105fs)	rs1057516922
NM_138694.4(PKHD1):c.3474G>A (p.Trp1158Ter)	rs886061619
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)	rs746972457
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)	rs1057517273
NM_138694.4(PKHD1):c.4593dup (p.Asn1532Ter)	rs1057516263
NM_138694.4(PKHD1):c.4733del (p.Tyr1578fs)	rs727504087
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala)	rs267601070
NM_138694.4(PKHD1):c.5752-2A>G	rs1057516407
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs)	rs771180444
NM_138694.4(PKHD1):c.5909-2del	rs1334913120
NM_138694.4(PKHD1):c.5993T>C (p.Ile1998Thr)	rs1210348558
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs)	rs1057516804
NM_138694.4(PKHD1):c.6809-2A>G	rs1340926191
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly)	rs201881567
NM_138694.4(PKHD1):c.7912-2A>G	rs1554271235
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr)	rs1554232224
NM_138694.4(PKHD1):c.930del (p.Thr311fs)	rs398124501
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr)	rs1554218666
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter)	rs757099749
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs)	rs992326794
NM_147127.5(EVC2):c.199_208del (p.Ser67fs)	rs1420414097
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter)	rs886037764
NM_147127.5(EVC2):c.534dup (p.Glu179Ter)	rs1553851462
NM_147127.5(EVC2):c.871-2_894del	rs755789146
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser)	rs747616932
NM_152419.3(HGSNAT):c.1360C>T (p.Gln454Ter)	rs1057518644
NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu)	rs1554537586
NM_152419.3(HGSNAT):c.1782_1815del (p.Phe595fs)	rs1298170960
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln)	rs727503962
NM_152419.3(HGSNAT):c.743+1del	rs1554531744
NM_152419.3(HGSNAT):c.744-2A>G	rs762402992
NM_152564.5(VPS13B):c.1001del (p.Tyr334fs)	rs1057516324
NM_152564.5(VPS13B):c.10166_10167del (p.Leu3389fs)	rs1554581267
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs)	rs180177371
NM_152564.5(VPS13B):c.10735A>T (p.Lys3579Ter)	rs1057520769
NM_152564.5(VPS13B):c.10813C>T (p.Gln3605Ter)	rs120074154
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter)	rs386834057
NM_152564.5(VPS13B):c.11216-2A>G	rs867112705
NM_152564.5(VPS13B):c.11236del (p.Asp3746fs)	rs1347701279
NM_152564.5(VPS13B):c.11263del (p.Thr3755fs)	rs1057516245
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs)	rs1554586953
NM_152564.5(VPS13B):c.11496-2A>G	rs1554588353
NM_152564.5(VPS13B):c.1150A>T (p.Lys384Ter)	rs1554625838
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs)	rs386834066
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs)	rs386834067
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs)	rs786204456
NM_152564.5(VPS13B):c.11838T>A (p.Cys3946Ter)	rs773094891
NM_152564.5(VPS13B):c.11850_11853dup (p.Pro3952fs)	rs1554590433
NM_152564.5(VPS13B):c.11880dup (p.Pro3961fs)	rs1057517328
NM_152564.5(VPS13B):c.11892_11895dup (p.Lys3966delinsCysTer)	rs1554590486
NM_152564.5(VPS13B):c.1206+19_1206+34del	rs750619814
NM_152564.5(VPS13B):c.1306del (p.Leu436_Met437insTer)	rs1408744761
NM_152564.5(VPS13B):c.1664_1671del (p.Gln555fs)	rs1057517177
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter)	rs777593389
NM_152564.5(VPS13B):c.2362G>T (p.Glu788Ter)	rs1554666009
NM_152564.5(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer)	rs1057516670
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs)	rs764544747
NM_152564.5(VPS13B):c.3782del (p.Pro1261fs)	rs753645306
NM_152564.5(VPS13B):c.3902dup (p.Phe1302fs)	rs1057516653
NM_152564.5(VPS13B):c.424_425del (p.Leu143fs)	rs1057517076
NM_152564.5(VPS13B):c.4539_4540del (p.Leu1514fs)	rs1554826566
NM_152564.5(VPS13B):c.4745+2T>C	rs386834091
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter)	rs752429062
NM_152564.5(VPS13B):c.4848G>A (p.Trp1616Ter)	rs180177360
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs)	rs1554853667
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs)	rs180177363
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs)	rs386834098
NM_152564.5(VPS13B):c.5772dup (p.Gln1925fs)	rs754016783
NM_152564.5(VPS13B):c.5908+2dup	rs587777381
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs)	rs886041323
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs)	rs755125969
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs)	rs1357171752
NM_152564.5(VPS13B):c.6319C>T (p.Gln2107Ter)	rs1057516489
NM_152564.5(VPS13B):c.6343C>T (p.Gln2115Ter)	rs1057516287
NM_152564.5(VPS13B):c.6470C>A (p.Ser2157Ter)	rs1057516494
NM_152564.5(VPS13B):c.6508del (p.Thr2170fs)	rs1057517318
NM_152564.5(VPS13B):c.6657+1G>T	rs180177366
NM_152564.5(VPS13B):c.7048C>T (p.Gln2350Ter)	rs767858119
NM_152564.5(VPS13B):c.7073G>A (p.Trp2358Ter)	rs1057516559
NM_152564.5(VPS13B):c.7217del (p.Asn2406fs)	rs886041184
NM_152564.5(VPS13B):c.7311_7312insAGGCA (p.Ala2438fs)	rs1554952465
NM_152564.5(VPS13B):c.7429+1G>A	rs386834106
NM_152564.5(VPS13B):c.795_798del (p.Ile266fs)	rs1554622608
NM_152564.5(VPS13B):c.8396G>A (p.Trp2799Ter)	rs1057516484
NM_152564.5(VPS13B):c.8446-1G>T	rs1554566596
NM_152564.5(VPS13B):c.8559del (p.Gln2854fs)	rs765302278
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del)	rs549810522
NM_152564.5(VPS13B):c.8995-2A>G	rs1554569259
NM_152564.5(VPS13B):c.9009del (p.Ile3003fs)	rs1057516538
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs)	rs759536357
NM_152564.5(VPS13B):c.9182del (p.Lys3061fs)	rs1057516789
NM_152564.5(VPS13B):c.9300_9303del (p.Val3102fs)	rs773945333
NM_152564.5(VPS13B):c.9331-1G>A	rs386834119
NM_152564.5(VPS13B):c.9331-1G>T	rs386834119
NM_152564.5(VPS13B):c.9472C>T (p.Gln3158Ter)	rs753770252
NM_152564.5(VPS13B):c.9562_9565del (p.Gln3188fs)	rs1554574028
NM_152564.5(VPS13B):c.9685C>T (p.Arg3229Ter)	rs941969577
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs)	rs886041185
NM_152564.5(VPS13B):c.9775del (p.Ile3259fs)	rs774357106
NM_152564.5(VPS13B):c.9940_9941insTTT (p.Gln3314delinsLeuTer)	rs1301330402
NM_152618.3(BBS12):c.1082del (p.Gly361fs)	rs1057517193
NM_152618.3(BBS12):c.1372dup (p.Thr458fs)	rs1195341481
NM_152618.3(BBS12):c.1616G>T (p.Gly539Val)	rs755314355
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter)	rs1553941580
NM_152618.3(BBS12):c.265_266del (p.Leu89fs)	rs1397714772
NM_152618.3(BBS12):c.270del (p.Val92fs)	rs1173504533
NM_153676.4(USH1C):c.2490+1del	rs1366154374
NM_153676.4(USH1C):c.579+1G>C	rs1283092935
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter)	rs779915989
NM_153717.3(EVC):c.1373del (p.Gly458fs)	rs760607210
NM_153717.3(EVC):c.1539del (p.Glu514fs)	rs759106605
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)	rs764397417
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter)	rs1553889992
NM_153717.3(EVC):c.1887-5_1904del	rs779275317
NM_153717.3(EVC):c.2449+1G>A	rs1553893423
NM_153717.3(EVC):c.2561+1G>A	rs1553894457
NM_153717.3(EVC):c.2782+1del	rs1169539647
NM_153717.3(EVC):c.2829_2830del (p.Asp945fs)	rs1460851298
NM_153717.3(EVC):c.2T>A (p.Met1Lys)	rs1553857801
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)	rs748523193
NM_153717.3(EVC):c.752dup (p.Lys252fs)	rs1553871792
NM_172250.3(MMAA):c.1114del (p.Gln372fs)	rs765726949
NM_172250.3(MMAA):c.124C>T (p.Gln42Ter)	rs758345818
NM_172250.3(MMAA):c.161G>A (p.Trp54Ter)	rs864309725
NM_172250.3(MMAA):c.411_414del (p.Asn137fs)	rs1553957931
NM_172250.3(MMAA):c.439+4_439+7del	rs1553957939
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)	rs140356252
NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter)	rs1553957883
NM_172250.3(MMAA):c.970-2A>T	rs1553959113
NM_174878.3(CLRN1):c.502dup (p.Ile168fs)	rs746523071
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser)	rs398124560
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr)	rs398124562
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter)	rs386834234
NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter)	rs190867671
NM_183050.4(BCKDHB):c.169C>T (p.Gln57Ter)	rs1554181192
NM_183050.4(BCKDHB):c.275-2A>G	rs1554184224
NM_183050.4(BCKDHB):c.281_291del (p.Phe94fs)	rs1380402024
NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly)	rs869312126
NM_183050.4(BCKDHB):c.2T>C (p.Met1Thr)	rs940391887
NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter)	rs398124573
NM_183050.4(BCKDHB):c.343+2T>G	rs1554184237
NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn)	rs398124575
NM_183050.4(BCKDHB):c.503G>A (p.Arg168His)	rs749033513
NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys)	rs398124581
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer)	rs398124587
NM_183050.4(BCKDHB):c.633+1G>T	rs398124589
NM_183050.4(BCKDHB):c.730del (p.Tyr244fs)	rs1057516572
NM_183050.4(BCKDHB):c.79_89del (p.Pro27fs)	rs1057516795
NM_183050.4(BCKDHB):c.811_824del (p.Asp271fs)	rs1554194690
NM_183050.4(BCKDHB):c.840+2T>G	rs398124596
NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs)	rs398124601
NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys)	rs1224101411
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu)	rs1554205541
NM_198129.4(LAMA3):c.7828C>T (p.Arg2610Ter)	rs768415785
NM_201548.5(CERKL):c.1073+3_1073+6del	rs1553513437
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly)	rs397517963
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs)	rs397517964
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs)	rs1366496013
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs)	rs779791079
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met)	rs527236137
NM_206933.4(USH2A):c.13257_13263del (p.Phe4419fs)	rs1057517533
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)	rs139474806
NM_206933.4(USH2A):c.15581G>A (p.Arg5194His)	rs727505155
NM_206933.4(USH2A):c.2168-2A>G	rs993185407
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs)	rs397518013
NM_206933.4(USH2A):c.3558del (p.Cys1186fs)	rs397518014
NM_206933.4(USH2A):c.486-1G>C	rs876657730
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)	rs397518021
NM_206933.4(USH2A):c.5877del (p.Ser1961fs)	rs727505343
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)	rs769838859
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer)	rs111033268
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs)	rs886041502
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs)	rs536593247
NR_003051.3(RMRP):n.-24_-10dup15	rs727502776
NR_003051.3(RMRP):n.-7_1dup8	rs752934195
NR_003051.4(RMRP):n.-21_-2dup	rs1554651411
NR_003051.4(RMRP):n.-23_-14dup	rs1554651532
NR_003051.4(RMRP):n.-7_-6insGGGACTACTCTGTGAAGCTG	rs1554651471
NR_003051.4(RMRP):n.101C>T	rs536333075
NR_003051.4(RMRP):n.156G>T	rs752709977
NR_003051.4(RMRP):n.184G>A	rs1554651153
NR_003051.4(RMRP):n.244A>C	rs551450545

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.