Variants from Baylor Genetics with conflicting interpretations

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

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

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
28704	11905	25	6906	1257	52	1671	9207

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
Baylor Genetics		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	affects	association	drug response	protective	other
	pathogenic	23	3624	371	17	8	18	2	1	1	18
	likely pathogenic	3288	1	859	13	1	6	1	0	0	4
	uncertain significance	192	328	1	1058	236	2	0	0	0	0
	likely benign	2	2	10	0	7	0	0	0	0	0
	benign	1	0	3	5	0	0	0	0	0	0

Submitter to submitter summary #

Submitter	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
Labcorp Genetics (formerly Invitae), Labcorp	0	7985	7	2232	560	2	326	3126
Counsyl	0	1822	0	1290	9	0	437	1736
Myriad Genetics, Inc.	0	1601	0	716	426	0	73	1215
Fulgent Genetics, Fulgent Genetics	0	3343	0	837	13	0	110	960
Natera, Inc.	0	3924	0	829	22	0	81	932
Genome-Nilou Lab	0	1031	0	431	24	0	76	530
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1950	0	466	0	0	37	503
Revvity Omics, Revvity	0	1263	0	313	3	0	79	393
OMIM	0	1402	13	254	0	21	74	362
Illumina Laboratory Services, Illumina	0	819	0	86	100	0	38	222
3billion	0	721	0	167	18	0	35	220
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	491	0	131	5	0	71	207
Mendelics	0	484	0	101	26	0	36	163
Department of Pathology and Laboratory Medicine, Sinai Health System	0	551	2	78	10	0	45	135
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	202	0	83	1	0	31	115
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	298	0	63	23	0	28	114
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	585	0	80	6	0	28	114
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	42	0	112	0	0	1	113
Institute of Human Genetics, University of Leipzig Medical Center	0	450	1	72	7	0	22	102
Neuberg Centre For Genomic Medicine, NCGM	0	397	0	69	0	0	22	91
All of Us Research Program, National Institutes of Health	0	398	0	49	10	0	26	85
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	246	2	68	0	0	6	76
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	0	104	0	46	2	0	28	76
Variantyx, Inc.	0	264	1	66	0	0	7	74
Juno Genomics, Hangzhou Juno Genomics, Inc	0	269	0	62	0	0	10	72
MGZ Medical Genetics Center	0	297	0	49	7	0	11	67
First Genomix Gene Laboratory, Genetic Diagnostics Department	0	185	0	49	0	0	17	66
ClinGen ACADVL Variant Curation Expert Panel, ClinGen	0	53	0	47	1	0	14	62
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	168	0	44	4	0	10	58
ClinGen PAH Variant Curation Expert Panel	0	165	0	49	0	0	8	57
Leiden Open Variation Database	0	197	0	38	1	0	14	53
Ocular Genomics Institute, Massachusetts Eye and Ear	0	59	0	38	0	0	15	53
GeneDx	0	225	0	41	0	0	11	51
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	161	0	42	0	0	8	50
SIB Swiss Institute of Bioinformatics	0	31	0	43	1	0	5	49
Breast Cancer Information Core (BIC) (BRCA1)	0	303	0	1	0	0	45	46
Ambry Genetics	0	184	0	9	31	0	6	45
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	112	0	33	0	0	12	45
Color Diagnostics, LLC DBA Color Health	0	127	0	32	5	0	7	44
Genomics England Pilot Project, Genomics England	0	35	0	38	0	0	4	42
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	0	31	0	21	0	0	21	42
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	247	1	30	0	0	8	39
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	197	0	30	0	1	8	39
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	10	0	7	26	0	7	39
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	106	0	26	2	0	9	37
Department of Human Genetics, Hannover Medical School	0	87	0	34	0	0	2	36
Genetics and Molecular Pathology, SA Pathology	0	165	0	30	0	0	6	36
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel	0	134	0	24	0	0	9	33
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	64	0	28	0	0	5	33
Sharing Clinical Reports Project (SCRP)	0	230	0	14	6	0	13	33
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	73	0	28	0	0	4	32
Institute of Human Genetics Munich, TUM University Hospital	0	165	0	25	0	0	7	32
SingHealth Duke-NUS Institute of Precision Medicine	0	21	0	27	0	0	5	32
Solve-RD Consortium	0	7	0	30	0	0	2	32
Molecular Pathology, Peter Maccallum Cancer Centre	0	224	0	12	11	0	8	31
Daryl Scott Lab, Baylor College of Medicine	0	202	0	17	1	0	12	30
Genetic Services Laboratory, University of Chicago	0	179	0	23	0	0	6	29
PreventionGenetics, part of Exact Sciences	0	94	0	17	2	0	8	27
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	377	0	13	9	0	5	27
Eurofins Ntd Llc (ga)	0	45	0	8	0	1	19	26
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	92	0	22	0	0	3	25
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center	0	2	0	0	0	25	0	25
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	9	0	16	0	0	9	25
CENTOGENE GmbH and LLC - Guiding Precision Medicine	0	103	0	20	0	0	4	24
CeGaT Center for Human Genetics Tuebingen	0	60	0	16	2	0	6	24
Clinical Biochemistry Laboratory, Health Services Laboratory	0	58	0	24	0	0	0	24
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	0	326	0	21	3	0	0	24
GeneReviews	0	605	0	21	0	0	2	23
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	194	0	8	11	0	4	23
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	81	0	19	1	0	3	23
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	0	32	0	20	0	0	3	23
Undiagnosed Diseases Network, NIH	0	97	0	12	0	0	12	23
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	107	0	17	0	0	6	22
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	70	0	16	0	0	6	21
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	80	0	16	0	0	5	21
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	0	32	0	19	0	0	1	20
Kariminejad - Najmabadi Pathology & Genetics Center	0	33	0	19	0	0	1	20
Dasa	0	132	0	16	0	0	2	18
New York Genome Center	0	110	0	11	1	0	7	18
Suma Genomics	0	23	0	13	0	0	5	18
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	20	0	3	0	0	14	17
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	0	319	0	15	0	0	2	17
Laboratory of Genetics in Ophthalmology, Institut Imagine	0	53	0	16	0	0	1	17
OLLIN Analises Genomicas, OLLIN	0	52	0	15	0	0	2	17
Dubai Health Genomic Medicine Center, Dubai Health	0	73	0	9	1	0	6	16
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital	0	17	0	16	0	0	1	16
Giacomini Lab, University of California, San Francisco	0	10	0	2	1	0	13	16
Lifecell International Pvt. Ltd	0	42	0	14	0	0	2	16
Lildballe Lab, Aarhus University Hospital	0	24	0	13	0	0	2	15
Medical and Scientific Branch, Hong Kong Genome Institute	0	36	0	12	0	0	3	15
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	77	0	6	5	0	3	14
Division of Human Genetics, Children's Hospital of Philadelphia	0	46	0	13	0	0	1	14
Johns Hopkins Genomics, Johns Hopkins University	0	88	0	10	2	0	2	14
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	44	0	12	0	0	1	13
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre	0	10	0	11	2	0	0	13
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel	0	11	0	2	11	0	0	13
Department of Molecular Diagnostics, Institute of Oncology Ljubljana	0	63	0	12	0	0	1	13
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	0	44	0	6	1	0	6	13
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research	0	32	0	11	0	0	2	13
Sema4, Sema4	0	64	0	5	8	0	0	13
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul	0	7	0	12	0	0	0	12
BRCAlab, Lund University	0	143	0	11	0	0	1	12
Clinical Genetics Laboratory, Skane University Hospital Lund	0	25	0	9	0	0	3	12
Genesis Genomics	0	70	0	12	0	0	0	12
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam	0	21	0	7	0	0	5	12
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	0	89	0	8	0	0	4	12
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	27	0	5	0	0	7	12
Molecular Genetics, Royal Melbourne Hospital	0	38	0	9	1	0	2	12
CSER _CC_NCGL, University of Washington	0	16	0	4	2	0	5	11
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	0	35	0	11	0	0	0	11
King Laboratory, University of Washington	0	18	0	8	0	0	3	11
Otogenetics	0	49	0	8	0	0	2	10
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	48	0	10	0	0	0	10
Baylor Genetics	49700	107	0	5	0	0	4	9
Center for Human Genetics, Inc, Center for Human Genetics, Inc	0	32	0	4	1	0	4	9
Clinical Genomics Laboratory, Stanford Medicine	0	26	0	6	0	0	3	9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	82	0	4	3	0	2	9
NIHR Bioresource Rare Diseases, University of Cambridge	0	5	0	8	0	0	1	9
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	0	31	0	8	0	0	1	9
CFTR-France	0	27	0	8	0	0	0	8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	39	0	6	1	0	1	8
Center for Molecular Medicine, Children’s Hospital of Fudan University	0	16	0	8	0	0	0	8
Centre for Inherited Metabolic Diseases, Karolinska University Hospital	0	26	0	7	0	0	1	8
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen	0	29	0	7	0	0	1	8
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	0	39	0	7	0	0	1	8
Institute of Human Genetics, Heidelberg University	0	32	0	7	0	0	1	8
Institute of Immunology and Genetics Kaiserslautern	0	70	0	6	0	0	2	8
Mayo Clinic Laboratories, Mayo Clinic	0	48	0	6	1	0	2	8
Reproductive Health Research and Development, BGI Genomics	0	30	0	5	0	0	3	8
Breakthrough Genomics, Breakthrough Genomics	0	28	0	6	0	0	1	7
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel	0	10	0	3	2	0	2	7
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen	0	19	0	3	2	0	2	7
Clinical Genomics Laboratory, Washington University in St. Louis	0	48	0	5	0	0	2	7
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	54	0	4	1	0	2	7
Department of Genetics, Sultan Qaboos University Hospital	0	43	0	5	0	0	2	7
Department of Pediatrics, Gifu University	0	28	0	5	0	0	2	7
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	0	6	0	7	0	0	0	7
Hadassah Hebrew University Medical Center	0	21	0	5	0	0	2	7
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	17	0	6	0	0	1	7
NHS Central & South Genomic Laboratory Hub	0	16	0	5	0	0	2	7
Pars Genome Lab	0	10	0	0	2	0	5	7
UCLA Clinical Genomics Center, UCLA	0	8	0	7	0	0	0	7
deCODE genetics, Amgen	0	10	0	6	0	0	1	7
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen	0	1	0	2	0	0	4	6
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada	0	12	0	5	0	0	1	6
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	33	0	3	0	0	3	6
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	0	18	0	6	0	0	0	6
Department of Medical Genetics, Oslo University Hospital	0	54	0	6	0	0	0	6
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	19	0	6	0	0	0	6
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino"	0	18	0	6	0	0	0	6
Laboratoire de Génétique Moléculaire, CHU Bordeaux	0	12	0	4	0	0	2	6
Molecular Biology Laboratory, Fundació Puigvert	0	11	0	6	0	0	0	6
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,	0	0	0	3	0	0	3	6
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital	0	19	0	5	0	0	1	6
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust	0	25	0	6	0	0	0	6
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	36	0	5	0	0	1	6
Precision Medicine Center, Zhengzhou University	0	9	0	5	0	0	1	6
Saint-Louis Hospital, Assistance Publique Hôpitaux de Paris	0	7	0	3	0	0	3	6
University of Washington Department of Laboratory Medicine, University of Washington	0	18	0	1	3	0	2	6
Center for Precision Medicine, Meizhou People's Hospital	0	22	0	4	1	0	0	5
Centre for Human Genetics	0	11	0	5	0	0	0	5
Centre of Medical Genetics, University Hospital Muenster	0	14	0	5	0	0	0	5
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University	0	12	0	5	0	0	0	5
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	0	0	1	2	1	0	1	5
Department of Medical and Surgical Sciences, University of Bologna	0	2	0	1	4	0	0	5
Familial Cancer Clinic, Veneto Institute of Oncology	0	0	0	2	0	0	3	5
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	0	14	0	5	0	0	0	5
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	16	0	3	0	0	2	5
NeuroMeGen, Hospital Clinico Santiago de Compostela	0	1	0	4	0	0	1	5
PDHA1 Study Group, University Children’s Hospital, Paracelsus Medical University	0	1	0	3	0	0	2	5
Yale Center for Mendelian Genomics, Yale University	0	7	0	3	0	0	2	5
Arcensus	0	13	0	4	0	0	0	4
Athena Diagnostics	0	21	0	1	1	0	3	4
Baumgartner lab, University Children's Hospital Zurich	0	12	0	4	0	0	0	4
Center of Genomic medicine, Geneva, University Hospital of Geneva	0	23	1	3	0	0	0	4
Centre for Medical Genetics, Mumbai	0	0	1	0	1	0	2	4
Department of Molecular Genetics, Istishari Arab Hospital	0	19	0	4	0	0	0	4
Duke University Health System Sequencing Clinic, Duke University Health System	0	15	0	2	0	0	2	4
Elsea Laboratory, Baylor College of Medicine	0	14	0	0	0	0	4	4
Eurofins-Biomnis	0	7	0	3	0	0	1	4
GeneKor MSA	0	22	0	4	0	0	0	4
Genome Diagnostics Laboratory, The Hospital for Sick Children	0	14	0	0	0	0	4	4
Genomic Medicine Lab, University of California San Francisco	0	33	0	4	0	0	0	4
Inserm U 954, Faculté de Médecine de Nancy	0	5	0	4	0	0	0	4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	24	0	3	0	0	1	4
Institute of Human Genetics, Cologne University	0	13	0	3	0	0	1	4
Institute of Medical Molecular Genetics, University of Zurich	0	1	0	4	0	0	0	4
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	0	1	0	4	0	0	0	4
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	0	4	0	4	0	0	0	4
Laboratory of Prof. Karen Avraham, Tel Aviv University	0	3	0	1	0	0	3	4
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	0	33	0	3	0	0	1	4
Service de Génétique Moléculaire, Hôpital Robert Debré	0	11	0	2	2	0	0	4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	61	0	3	0	0	1	4
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital	0	16	0	2	0	0	1	3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	0	6	0	2	0	0	1	3
Blueprint Genetics	0	14	0	1	0	0	2	3
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen	0	2	0	2	0	0	1	3
DBGen Ocular Genomics	0	12	0	2	0	0	1	3
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics, Hospital Universitario Hospital La Paz	0	12	0	3	0	0	0	3
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital	0	8	0	2	0	0	1	3
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub	0	6	0	1	0	0	2	3
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli	0	5	0	3	0	0	0	3
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University	0	3	0	3	0	0	0	3
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	16	0	1	1	0	1	3
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	52	0	2	1	0	0	3
GenomeConnect - Simons Searchlight	0	8	0	3	0	0	0	3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	0	29	0	1	0	0	2	3
Gharavi Laboratory, Columbia University	0	5	0	3	0	0	0	3
HerediLab, Inc.	0	1	0	3	0	0	0	3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	0	10	0	2	0	0	1	3
Istanbul Faculty of Medicine, Istanbul University	0	0	0	3	0	0	0	3
Laboratorio de I+D, Fundación Centro Médico de Asturias	0	1	0	0	1	0	2	3
Leeds Amelogenesis Imperfecta Research Group, University of Leeds	0	2	0	2	0	0	1	3
MVZ Martinsried, Medicover Genetics	0	9	0	1	0	0	2	3
Molecular Endocrinology Laboratory, Christian Medical College	0	13	0	2	0	0	1	3
Paris Brain Institute, Inserm - ICM	0	12	0	2	1	0	0	3
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic	0	22	0	3	0	0	0	3
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur	0	4	0	3	0	0	0	3
Sharon lab, Hadassah-Hebrew University Medical Center	0	10	0	1	0	0	2	3
Autoinflammatory diseases unit, CHU de Montpellier	0	7	0	2	0	0	0	2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	0	2	0	2	0	0	0	2
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics	0	1	0	1	0	0	1	2
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar	0	3	0	2	0	0	0	2
Breast Cancer Information Core (BIC) (BRCA2)	0	14	0	1	0	0	1	2
CFTR2	0	14	0	0	1	0	1	2
CHU Sainte-Justine Research Center, University of Montreal	0	2	0	1	0	0	1	2
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences	0	7	0	1	0	0	1	2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	0	10	0	0	0	0	2	2
Center for Human Genetics, University of Leuven	0	0	0	2	0	0	0	2
Child Health and Human Development Program, Research Institute of the McGill University Health Center	0	5	0	2	0	0	0	2
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen	0	1	0	0	0	0	2	2
Collagen Diagnostic Laboratory, University of Washington	0	1	0	2	0	0	0	2
DNA-diagnostics Laboratory, Research Centre For Medical Genetics	0	1	0	0	0	0	2	2
Department of Biotechnology and Microbiology, Karnatak University Dharwad	0	0	0	0	0	0	2	2
Department of Human Genetics, University Hospital Bern, Inselspital	0	0	0	1	0	0	1	2
Department of Medical Genetics, University Hospital of North Norway	0	2	0	2	0	0	0	2
Department of Molecular and Human Genetics, Baylor College of Medicine	0	3	0	0	0	0	2	2
Department of Neurology, Zibo Changguo Hospital	0	2	0	2	0	0	0	2
Department of Ophthalmology, Shanghai Jiao Tong University School of Medicine, Shanghai General Hospital	0	0	0	1	0	0	1	2
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK)	0	2	0	1	0	0	1	2
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology	0	1	0	0	1	0	1	2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University	0	4	0	2	0	0	0	2
Diagnostics Centre, Carl Von Ossietzky University Oldenburg	0	6	0	2	0	0	0	2
Division of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center	0	12	0	2	0	0	0	2
Division of Medical Genetics, University of Washington	0	43	0	0	0	0	2	2
Donald Williams Parsons Laboratory, Baylor College of Medicine	0	3	0	1	0	0	1	2
Dr.Nikuei Genetic Center	0	7	0	2	0	0	0	2
Gene Discovery Core-Manton Center, Boston Children's Hospital	0	1	0	1	0	0	1	2
GeneID Lab - Advanced Molecular Diagnostics	0	3	0	2	0	0	0	2
Genetics Department, Catlab	0	7	0	2	0	0	0	2
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences	0	17	0	2	0	0	0	2
Genomenon, Inc, Genomenon, Inc	0	2	0	2	0	0	0	2
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université	0	2	0	0	0	0	2	2
Hereditary Research Laboratory, Bethlehem University	0	2	0	1	0	0	1	2
Human Genetics Bochum, Ruhr University Bochum	0	22	0	2	0	0	0	2
Inherited Neuropathy Consortium Ii, University Of Miami	0	2	0	0	0	0	2	2
Institute for Human Genetics, University Hospital Essen	0	1	0	1	0	0	1	2
Institute for Human Genetics, University Medical Center Freiburg	0	4	0	2	0	0	0	2
Institute for Integrative and Experimental Genomics, University of Luebeck	0	0	0	1	0	0	1	2
Institute of Genomics, University of Tartu	0	6	0	2	0	0	0	2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	0	11	0	1	1	0	0	2
Kong lab, Department of Laboratory Medicine, National Cancer Center	0	1	0	2	0	0	0	2
LDLR-LOVD, British Heart Foundation	0	0	0	2	0	0	0	2
Laboratory of Human Genetics, Universidade de São Paulo	0	3	0	1	0	0	1	2
Laboratory of Molecular Genetics, Children's Memorial Health Institute	0	4	0	2	0	0	0	2
Medgenome Labs Pvt Ltd	0	4	0	2	0	0	0	2
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences	0	1	0	2	0	0	0	2
Medical Genetics, University of Parma	0	5	0	0	1	0	1	2
Molecular Genetics Diagnostic Laboratory, Detroit Medical Center University Laboratories	0	2	0	2	0	0	0	2
Molecular Genetics Lab, CHRU Brest	0	7	0	2	0	0	0	2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	0	8	0	0	0	0	2	2
Molecular Oncology, Hospital Universitario Central de Asturias (HUCA)	0	21	0	2	0	0	0	2
Next Generation Genetic Polyclinic	0	8	0	2	0	0	0	2
Ophthalmology, Kobe City Eye Hospital	0	8	0	2	0	0	0	2
PXE International	0	1	0	2	0	0	0	2
Pathway Genomics	0	27	0	1	0	0	1	2
Pediatric Department, Peking University First Hospital	0	1	0	2	0	0	0	2
Pediatric Metabolic Diseases, Hacettepe University	0	4	0	2	0	0	0	2
Quest Diagnostics Nichols Institute San Juan Capistrano	0	72	0	1	0	0	1	2
Rare Disease Group, Clinical Genetics, Karolinska Institutet	0	0	0	1	0	0	2	2
Robarts Research Institute, Western University	0	0	0	2	0	0	0	2
Section for Clinical Neurogenetics, University of Tübingen	0	5	0	2	0	0	0	2
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana	0	3	0	2	0	0	0	2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital	0	1	0	2	0	0	0	2
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital	0	0	0	2	0	0	0	2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	0	3	0	1	0	0	1	2
University of Washington Center for Mendelian Genomics, University of Washington	0	1	0	2	0	0	0	2
Vasylyeva lab, Texas Tech University Health Sciences Center	0	8	0	1	0	0	1	2
AiLife Diagnostics, AiLife Diagnostics	0	3	0	1	0	0	0	1
Aleixo Muise Laboratory, Hospital For Sick Children	0	3	0	0	0	0	1	1
Beijing Obstetrics and Gynecology Hospital, Capital Medical University	0	0	0	1	0	0	0	1
Biochemistry Department, Nishtar Medical University	0	1	0	1	0	0	0	1
Biochemistry Laboratory of CDMU, Chengde Medical University	0	4	0	1	0	0	0	1
Bioinformatics Unit, Institut Pasteur de Montevideo	0	0	0	1	0	0	0	1
Biotechnology, Institute of Science, Nirma University	0	2	0	0	0	0	1	1
Breda Genetics srl, Breda Genetics srl	0	10	0	1	0	0	0	1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service	0	5	0	0	0	0	1	1
Cancer Diagnostics Division, Gene Solutions	0	0	0	1	0	0	0	1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London	0	0	0	1	0	0	0	1
Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere	0	0	0	1	0	0	0	1
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	0	1	0	1	0	0	0	1
Center for Genetic Medicine Research, Children's National Medical Center	0	0	0	1	0	0	0	1
Center for Individualized Medicine, Mayo Clinic	0	1	0	1	0	0	0	1
Center for Medical Genetics Ghent, University of Ghent	0	7	0	0	1	0	0	1
Center for Statistical Genetics, Columbia University	0	0	0	1	0	0	1	1
Center of Excellence for Medical Genomics, Chulalongkorn University	0	2	0	0	0	0	1	1
Center of Medical Genetics and Primary Health Care	0	9	0	1	0	0	0	1
Centre de Génétique Humaine, Institut de Pathologie Et de Génétique	0	1	0	1	0	0	0	1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix	0	0	0	1	0	0	0	1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital	0	1	0	0	0	0	1	1
Centre for Population Genomics, CPG	0	7	0	0	1	0	0	1
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres	0	2	0	1	0	0	0	1
Chao Lab, Baylor College of Medicine, Texas Children's Hospital	0	0	0	1	0	0	0	1
Children’s Center Hospital, Tehran University of Medical Sciences	0	0	0	0	0	1	0	1
Claritas Genomics	0	6	0	1	0	0	0	1
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen	0	0	0	0	0	0	1	1
ClinGen FBN1 Variant Curation Expert Panel, ClinGen	0	0	0	0	1	0	0	1
ClinGen Potassium Channel Arrhythmia Variant Curation Expert Panel, ClinGen	0	0	0	1	0	0	0	1
ClinGen RASopathy Variant Curation Expert Panel	0	18	0	0	0	0	1	1
ClinGen TP53 Variant Curation Expert Panel, ClinGen	0	2	0	0	1	0	0	1
ClinGen VHL Variant Curation Expert Panel, ClinGen	0	0	0	0	1	0	0	1
ClinPGx	0	0	0	0	0	1	0	1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska"	0	5	0	1	0	0	0	1
Clinical Cancer Genomics Laboratory, City of Hope Comprehensive Cancer Center	0	0	0	1	0	0	0	1
Clinical Genetics Laboratory, Region Ostergotland	0	8	0	0	0	0	1	1
Clinical Genetics and Genomics, Karolinska University Hospital	0	6	0	0	0	0	1	1
Clinical Genetics, Academic Medical Center	0	7	0	1	0	0	0	1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill	0	1	0	1	0	0	0	1
Clinical Laboratory, Heze Municipal Hospital	0	0	0	1	0	0	0	1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	0	18	0	0	0	0	1	1
Coban-Akdemir Lab, University of Texas Health Science Center	0	0	0	0	0	0	1	1
Core Molecular Diagnostic Lab, McGill University Health Centre	0	0	0	1	0	0	0	1
Dan Cohn Lab, University Of California Los Angeles	0	0	0	1	0	0	0	1
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences	0	2	0	0	0	0	1	1
Department of Biochemistry, All India Institute of Medical Sciences, Kalyani	0	0	0	0	0	0	1	1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology	0	1	0	1	0	0	0	1
Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry	0	0	0	1	0	0	0	1
Department of Genetics, Suzhou Beikang Medical Laboratory	0	1	0	1	0	0	0	1
Department of Hematology, University of Health Sciences	0	0	0	1	0	0	0	1
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development	0	4	0	1	0	0	0	1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences	0	9	0	1	0	0	0	1
Department of Medical Laboratory Science, Faculty of Allied Health Sciences, University of Peradeniya	0	3	0	0	0	0	1	1
Department of Neurology, Johns Hopkins University School of Medicine	0	0	0	0	1	0	0	1
Department of Neurology, Second Xiangya Hospital of Central South University	0	0	0	1	0	0	0	1
Department of Otolaryngology Head and Neck Surgery, Hainan Hospital of the Chinese People’s Liberation Army General Hospital	0	6	0	1	0	0	0	1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research	0	1	0	1	0	0	0	1
Department of Pathology and Genetics, University of Gothenburg	0	0	0	1	0	0	0	1
Department of Pathophysiology and Transplantation, University of Milan	0	3	0	1	0	0	0	1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center	0	12	0	1	0	0	0	1
Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital	0	0	0	1	0	0	0	1
Department of Rehabilitation Medicine, Chungnam National University Hospital	0	0	0	0	0	0	1	1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea	0	4	0	1	0	0	0	1
Department of Rehabilitation, Anhui Provincial Children's Hospital	0	2	0	1	0	0	0	1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital	0	6	0	1	0	0	0	1
Diagnostic Molecular Genetics Laboratory, Memorial Sloan Kettering Cancer Center	0	0	0	1	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	1	0	1	0	0	0	1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University	0	4	0	0	1	0	0	1
Dr. Oladnabi Research Group, Golestan University of Medical Sciences	0	1	0	1	0	0	0	1
Dunham Lab, University of Washington	0	5	0	0	0	0	1	1
Embryology Laboratory, Victor Chang Cardiac Research Institute	0	0	0	0	0	0	1	1
Endocrinology Clinic, Seth G.S. Medical College	0	0	0	1	0	0	0	1
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital	0	2	0	1	0	0	0	1
Eye Genetics Research Group, Children's Medical Research Institute	0	0	0	1	0	0	0	1
Fetal Health Research Center, Hope Generation Foundation	0	0	0	1	0	0	0	1
Fundacion Hipercolesterolemia Familiar	0	0	0	1	0	0	0	1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	0	6	0	1	0	0	1	1
GenePathDx, GenePath diagnostics	0	5	0	1	0	0	0	1
Genesis Genoma Lab, Genesis Genoma Lab	0	0	0	0	1	0	0	1
Genetic Diagnostic Laboratory, University of Szeged	0	1	0	1	0	0	0	1
Genetic Diagnostics Department, Viafet Genomics Laboratory	0	2	0	1	0	0	0	1
Genetic Diseases Diagnostic Center, Koc University Hospital	0	1	0	1	0	0	0	1
Genetic Foundation of Khorasan Razavi (GFKR)	0	2	0	1	0	0	0	1
Genetic Predisposition to Colorectal Cancer Group, Institut d’Investigacions Biomediques August Pi i Sunyer	0	0	0	0	0	0	1	1
Genetics Department, Hospital Ramon y Cajal-IRYCIS	0	0	0	0	0	0	1	1
Genetics Department, University Hospital of Toulouse	0	1	0	1	0	0	0	1
Genome Medicine, Institute for Basic Research in Developmental Disabilities	0	4	0	0	0	0	1	1
Genome Sciences Centre, British Columbia Cancer Agency	0	0	0	1	0	0	0	1
Genomic Diagnostics Laboratory, National Institute of Medical Genomics	0	2	0	1	0	0	0	1
Genomic Medicine, Universita Cattolica del Sacro Cuore	0	1	0	0	1	0	0	1
Genomics, Clalit Research Institute, Clalit Health Care	0	1	0	1	0	0	0	1
Hereditary Cancer Clinic, Medical College of Georgia	0	0	0	0	0	0	1	1
Hereditary Cancer Group, L’Institut d'Investigació Biomèdica de Bellvitge	0	1	0	1	0	0	0	1
Human Genetics Laboratory, Amsterdam University Medical Center	0	0	0	0	0	0	1	1
Human Genetics Section, Sidra Medicine	0	2	0	1	0	0	0	1
ITMI	0	6	0	1	0	0	0	1
IU Genetic Testing Laboratories, Indiana University School of Medicine	0	0	0	1	0	0	0	1
Iberoamerican FH Network	0	0	0	1	0	0	0	1
Imperial College London Diabetes Centre, Mubadala Healthcare	0	1	0	1	0	0	0	1
Institute for Genomic Medicine, Nationwide Children's Hospital	0	1	0	1	0	0	0	1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	0	15	0	0	0	0	1	1
Institute of Cellular and Molecular Medicine, Copenhagen University	0	0	0	1	0	0	0	1
Institute of Human Genetics, Medical University Innsbruck	0	16	0	1	0	0	0	1
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	0	2	0	1	0	0	0	1
Institute of Human Genetics, University Hospital of Duesseldorf	0	13	0	1	0	0	0	1
Institute of Medical Genetics, Medical University of Vienna	0	0	0	1	0	0	0	1
Institute of Medical Genetics, University of Zurich	0	1	0	1	0	0	0	1
Institute of Neurology, Charite University of Medicine	0	0	0	0	0	0	1	1
Intergen Genetics and Rare Diseases Diagnosis Center	0	18	1	0	0	0	0	1
Jacobi Internal Medicine Residency Program, Jacobi Medical Center	0	0	0	1	0	0	0	1
Keimyung University Dongsan Hospital, Keimyung University School of Medicine	0	1	0	1	0	0	0	1
Kids Neuroscience Centre, Sydney Children's Hospitals Network	0	1	0	1	0	0	0	1
Kids Research, The Children's Hospital at Westmead	0	6	0	1	0	0	0	1
Laan Lab, Human Genetics Research Group, University of Tartu	0	5	0	1	0	0	0	1
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University	0	1	0	1	0	0	0	1
Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse	0	1	0	1	0	0	0	1
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi	0	2	0	1	0	0	0	1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	0	2	0	0	0	0	1	1
Laboratory of Functional Genomics, Research Centre for Medical Genetics	0	2	0	0	1	0	0	1
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics	0	7	0	1	0	0	0	1
Laboratory of Genetics and Genomics, Institute for Developing Science and Health Initiatives Foundation	0	0	0	1	0	0	0	1
Laboratory of Genetics, Children's Clinical University Hospital Latvia	0	8	0	0	0	0	1	1
Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo	0	4	0	0	0	0	1	1
Laboratory of Medical Genetics, University of Torino	0	7	0	1	0	0	1	1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine	0	0	0	1	0	0	0	1
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology	0	1	0	0	0	0	1	1
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS)	0	1	0	1	0	0	0	1
Laboratory of Molecular, Cellular and Translation Genetics in Otolaryngology/ Lim32-hcfmusp, University of Sao Paulo School of Medicine Clinics Hospital	0	2	0	1	0	0	0	1
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II	0	0	0	1	0	0	0	1
MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN	0	0	0	0	0	0	1	1
MVZ Medizinische Genetik Mainz	0	0	0	1	0	0	0	1
MedGen Diagnostic Laboratory, MedGen Medical Centre	0	1	0	1	0	0	0	1
Medical Affairs, Dicerna Pharmaceuticals	0	0	0	0	0	0	1	1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano	0	2	0	0	0	0	1	1
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University	0	4	0	1	0	0	0	1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi	0	0	0	1	0	0	1	1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital)	0	0	0	1	0	0	0	1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital	0	6	0	1	0	0	0	1
Medical Molecular Genetics, National Research Centre	0	4	0	1	0	0	0	1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	0	0	0	1	0	0	0	1
Molecular Diagnostics Laboratory, Barretos Cancer Hospital	0	0	0	0	1	0	0	1
Molecular Diagnostics, Microbiology, Virology, Parasitology and Genetics, Sofia University, St. Kliment Ohridski	0	0	0	1	0	0	0	1
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation	0	0	0	1	0	0	0	1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	0	7	0	1	0	0	0	1
Molecular Genetics laboratory, Necker Hospital	0	0	0	1	0	0	0	1
Molecular Lab, Department of Haematology, Christian Medical College	0	5	0	1	0	0	0	1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics	0	0	0	1	0	0	0	1
Molecular Pathology and Genetics, King Abdulaziz Medical City, Ministry of National Guard - Health Affairs	0	0	0	1	0	0	0	1
Muenke lab, National Institutes of Health	0	1	0	0	0	0	1	1
Nanfang Hospital, Southern Medical University	0	0	0	1	0	0	0	1
National Institute of Mental Health and Neurosciences	0	1	0	1	0	0	0	1
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University	0	1	0	1	0	0	0	1
Neurogenetics Laboratory - MEYER, AOU Meyer	0	2	0	1	0	0	0	1
Neurogenetics Laboratory, Gh Pitie Salpetriere Aphp	0	0	0	1	0	0	0	1
Neurogenetics, Cyprus Institute of Neurology and Genetics	0	0	0	0	0	0	1	1
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University	0	2	0	0	0	0	1	1
Neurology Department, Peking University First Hospital	0	6	0	0	0	0	1	1
Neurology Department, Shenzhen Children's Hospital	0	0	0	1	0	0	0	1
Neurology Department, Soochow Children's Hospital	0	0	0	0	0	0	1	1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)	0	4	0	1	0	0	0	1
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana	0	1	0	1	0	0	0	1
Palindrome, Gene Kavoshgaran Aria	0	1	0	1	0	0	0	1
Pangenia Genomics, Pangenia Inc.	0	2	0	0	0	0	1	1
Payam Genetics Center, General Welfare Department of North Khorasan Province	0	3	0	1	0	0	0	1
Pediatric Department, Xiangya Hospital, Central South University	0	8	0	1	0	0	0	1
Pediatric Genetics Clinic, Sheba Medical Center	0	9	0	1	0	0	0	1
Pediatric Immunology Service, The Chaim Sheba Medical Center at Tel HaShomer	0	0	0	0	0	0	1	1
Pediatric Neurology, Ankara Etlik City Hospital, Health Sciences University	0	0	0	1	0	0	0	1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe	0	0	0	0	0	0	1	1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations	0	2	0	1	0	0	0	1
Population and Medical Genomics Lab, Sidra Medicine	0	0	0	1	0	0	1	1
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar	0	4	0	0	1	0	0	1
Prenatal Medicine Munich, Prenatal Medicine Munich	0	0	0	0	0	0	1	1
Provincial Medical Genetics Program of British Columbia, University of British Columbia	0	13	0	1	0	0	0	1
Rare Disease Group, University of Exeter	0	0	0	1	0	0	0	1
Raymond Lab, University of Cambridge	0	0	0	1	0	0	0	1
Reproductive Endocrine Unit, Massachusetts General Hospital	0	1	0	1	0	0	0	1
RettBASE	0	7	0	0	0	0	1	1
Roden Lab, Vanderbilt University Medical Center	0	1	0	1	0	0	0	1
Royal Medical Services, Bahrain Defence Force Hospital	0	2	0	1	0	0	0	1
Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute	0	0	0	1	0	0	0	1
Schule lab, Hertie Institute for Clinical Brain Research	0	0	0	0	0	0	1	1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	0	8	0	1	0	0	0	1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud	0	1	0	0	0	0	1	1
Shaikh Laboratory, University of Colorado	0	0	0	1	0	0	0	1
Shieh Lab, University of California, San Francisco	0	4	0	1	0	0	0	1
Stanford Starfish Project, Stanford University	0	0	0	1	0	0	0	1
Sydney Genome Diagnostics, Children's Hospital Westmead	0	4	0	1	0	0	0	1
Thalassemia Center, San Luigi University Hospital	0	0	0	1	0	0	0	1
The Shared Resource Centre "Genome", Research Centre for Medical Genetics	0	5	0	1	0	0	0	1
UAEU Genomics Laboratory, United Arab Emirates University	0	2	0	1	0	0	0	1
UF de Génétique Moléculaire, Hôpital Lariboisière	0	0	0	1	0	0	0	1
UW Hindbrain Malformation Research Program, University of Washington	0	8	0	1	0	0	0	1
Uitto Lab, Thomas Jefferson University	0	2	0	0	0	0	1	1
Unidad Asesoramiento Genetico Oncologico Falp, Instituto Oncologico Fundacion Arturo Lopez Perez	0	3	0	1	0	0	0	1
Unidade de Bioquimica Genetica, Centro Hospitalar do Porto	0	0	0	1	0	0	0	1
University Children's Hospital, University of Zurich	0	4	0	1	0	0	0	1
University of Malaya Medical Center, University of Malaya	0	0	0	1	0	0	0	1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics	0	0	0	0	0	1	0	1
Wessex Regional Genetics Laboratory, Salisbury District Hospital	0	2	0	1	0	0	0	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	1	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly)	rs16941	0.29115
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)	rs1042602	0.24046
NM_000410.4(HFE):c.187C>G (p.His63Asp)	rs1799945	0.10170
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)	rs1050829	0.08672
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)	rs2070074	0.07384
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly)	rs72657698	0.06836
NM_000140.5(FECH):c.315-48T>C	rs2272783	0.06828
NM_005105.5(RBM8A):c.*6C>G	rs12079762	0.04454
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)	rs1801426	0.03864
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	rs1800562	0.03738
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_130839.5(UBE3A):c.477A>T (p.Ala159=)	rs28528079	0.02826
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)	rs17580	0.02788
NM_130839.5(UBE3A):c.373T>C (p.Leu125=)	rs61734190	0.02311
NM_005105.5(RBM8A):c.-21G>A	rs139428292	0.01871
NM_000130.4(F5):c.1601G>A (p.Arg534Gln)	rs6025	0.01762
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)	rs28929474	0.01282
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)	rs11571707	0.00895
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)	rs17107315	0.00797
NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter)	rs202233735	0.00627
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser)	rs143736974	0.00611
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met)	rs34355135	0.00561
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys)	rs149840356	0.00534
NM_005609.4(PYGM):c.645G>A (p.Lys215=)	rs116315896	0.00530
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)	rs104895094	0.00506
NM_000371.4(TTR):c.424G>A (p.Val142Ile)	rs76992529	0.00475
NM_000110.4(DPYD):c.1905+1G>A	rs3918290	0.00474
NM_130839.5(UBE3A):c.2124+9T>C	rs79328837	0.00454
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)	rs143759519	0.00440
NM_000435.3(NOTCH3):c.3704A>T (p.His1235Leu)	rs55882518	0.00433
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)	rs11971167	0.00417
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	rs33930165	0.00414
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	rs17879961	0.00408
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg)	rs141287105	0.00406
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr)	rs36027220	0.00400
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp)	rs61749249	0.00399
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224	0.00393
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	rs34557412	0.00391
NM_000152.5(GAA):c.-32-13T>G	rs386834236	0.00380
NM_001625.4(AK2):c.386G>A (p.Ser129Asn)	rs61750965	0.00379
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	rs104894313	0.00375
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	rs61755320	0.00364
NM_052854.4(CREB3L1):c.599A>T (p.Asp200Val)	rs187725533	0.00364
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)	rs139548132	0.00360
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)	rs121918166	0.00350
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)	rs115545701	0.00350
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	rs77931234	0.00347
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)	rs28383481	0.00347
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	rs36053993	0.00341
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00337
NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu)	rs148934699	0.00336
NM_007315.4(STAT1):c.633+6T>A	rs45459703	0.00335
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg)	rs187401185	0.00331
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)	rs1800546	0.00319
NM_000781.3(CYP11A1):c.235G>A (p.Val79Ile)	rs143655263	0.00303
NM_000128.4(F11):c.1304+12G>A	rs116667976	0.00295
NM_001370466.1(NOD2):c.485C>T (p.Thr162Met)	rs61755182	0.00291
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)	rs34324426	0.00283
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val)	rs144908351	0.00282
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met)	rs146097254	0.00280
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)	rs1800365	0.00275
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)	rs141090143	0.00273
NM_181078.3(IL21R):c.1033G>A (p.Gly345Ser)	rs56148525	0.00271
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg)	rs146165014	0.00270
NM_024537.4(CARS2):c.1632C>A (p.Ser544Arg)	rs141184379	0.00270
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln)	rs41282065	0.00267
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)	rs140806722	0.00253
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp)	rs41307461	0.00253
NM_014339.7(IL17RA):c.1174G>T (p.Val392Leu)	rs146478431	0.00249
NM_024818.6(UBA5):c.-823C>A	rs151048899	0.00249
NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter)	rs149484917	0.00246
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)	rs148584617	0.00241
NM_000433.4(NCF2):c.563G>A (p.Arg188Lys)	rs115365142	0.00239
NM_006904.7(PRKDC):c.422C>G (p.Ser141Cys)	rs201231274	0.00239
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg)	rs61738009	0.00239
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro)	rs41281202	0.00236
NM_006904.7(PRKDC):c.5120T>A (p.Leu1707Gln)	rs202110076	0.00235
NM_000153.4(GALC):c.997G>A (p.Gly333Arg)	rs190921137	0.00231
NM_147686.4(TRAF3IP2):c.232C>G (p.Arg78Gly)	rs73764462	0.00229
NM_001363.5(DKC1):c.-142C>G	rs199422241	0.00227
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys)	rs35689779	0.00225
NM_153603.4(COG7):c.1178A>G (p.His393Arg)	rs116331296	0.00222
NM_001164508.2(NEB):c.9155G>A (p.Arg3052Gln)	rs201176993	0.00220
NM_000135.4(FANCA):c.3514-4A>G	rs149388130	0.00219
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)	rs137932254	0.00218
NM_024884.3(L2HGDH):c.408+14T>C	rs77736285	0.00215
NM_001127178.3(PIGG):c.422C>T (p.Ala141Val)	rs116772777	0.00214
NM_203447.4(DOCK8):c.1582C>A (p.Leu528Met)	rs146250176	0.00213
NM_001364905.1(LRBA):c.194T>C (p.Ile65Thr)	rs148385798	0.00205
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp)	rs144383241	0.00205
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met)	rs191971593	0.00201
NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu)	rs138762270	0.00197
NM_020745.4(AARS2):c.1162C>T (p.Pro388Ser)	rs139372744	0.00197
NM_182746.3(MCM4):c.1406G>C (p.Ser469Thr)	rs117063344	0.00197
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val)	rs116355217	0.00196
NM_004946.3(DOCK2):c.1360G>A (p.Ala454Thr)	rs114888195	0.00196
NM_005908.4(MANBA):c.2180C>T (p.Ser727Phe)	rs147437033	0.00195
NM_002206.3(ITGA7):c.2958+16G>A	rs200586885	0.00194
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln)	rs7437875	0.00193
NM_001854.4(COL11A1):c.3384+13T>G	rs201970483	0.00192
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	rs76763715	0.00191
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr)	rs1800069	0.00190
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)	rs117225135	0.00188
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00188
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)	rs139998038	0.00187
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg)	rs57443665	0.00186
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	rs75391579	0.00184
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)	rs137852769	0.00182
NM_003114.5(SPAG1):c.2714C>T (p.Ser905Leu)	rs142031266	0.00181
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)	rs116987552	0.00178
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)	rs140551762	0.00178
NM_001164508.2(NEB):c.22800+9A>G	rs144303545	0.00177
NM_001164508.2(NEB):c.23477A>G (p.Asn7826Ser)	rs143602832	0.00177
NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile)	rs143107549	0.00177
NM_001127178.3(PIGG):c.724G>A (p.Val242Met)	rs144411585	0.00173
NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala)	rs150433001	0.00173
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu)	rs149109801	0.00172
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met)	rs142433309	0.00171
NM_016327.3(UPB1):c.917-1G>A	rs143493067	0.00169
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)	rs137854475	0.00168
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	rs34612342	0.00168
NM_014679.5(CEP57):c.677G>A (p.Arg226His)	rs143711180	0.00168
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp)	rs201580493	0.00166
NM_178138.6(LHX3):c.252-4G>T	rs372058376	0.00165
NM_000018.4(ACADVL):c.1678+23C>T	rs147546456	0.00163
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr)	rs74977201	0.00163
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)	rs145588689	0.00162
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	rs113994096	0.00160
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)	rs138213197	0.00160
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)	rs149617956	0.00158
NM_007055.4(POLR3A):c.1909+22G>A	rs191875469	0.00156
NM_000294.3(PHKG2):c.393G>A (p.Arg131=)	rs55751949	0.00153
NM_001330078.2(NRXN1):c.772+1078A>G	rs144049982	0.00153
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	rs113994094	0.00151
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys)	rs114896482	0.00151
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)	rs121912616	0.00150
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)	rs28934897	0.00149
NM_000553.6(WRN):c.355+4G>C	rs145764920	0.00149
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)	rs76723693	0.00149
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)	rs147231991	0.00146
NM_005502.4(ABCA1):c.3542C>T (p.Ser1181Phe)	rs76881554	0.00145
NM_006567.5(FARS2):c.506A>T (p.Asp169Val)	rs146356199	0.00141
NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile)	rs35967690	0.00141
NM_000043.6(FAS):c.580G>A (p.Glu194Lys)	rs56006128	0.00140
NM_014844.5(TECPR2):c.623C>T (p.Thr208Ile)	rs144870163	0.00140
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)	rs150766139	0.00138
NM_000199.5(SGSH):c.752G>C (p.Gly251Ala)	rs144461610	0.00137
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys)	rs28931570	0.00137
NM_001289104.2(PRKCSH):c.416G>A (p.Arg139His)	rs139991238	0.00137
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_005726.6(TSFM):c.856C>T (p.Gln286Ter)	rs201754030	0.00136
NM_000081.4(LYST):c.4337G>A (p.Arg1446Gln)	rs111722949	0.00135
NM_005732.4(RAD50):c.943G>T (p.Val315Leu)	rs28903090	0.00135
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr)	rs58173258	0.00135
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln)	rs104895464	0.00133
NM_001625.4(AK2):c.49C>G (p.Arg17Gly)	rs138577419	0.00133
NM_001783.4(CD79A):c.419C>A (p.Thr140Asn)	rs148797987	0.00133
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)	rs104893941	0.00133
NM_212552.3(BOLA3):c.258+9A>C	rs201380456	0.00133
NM_000290.4(PGAM2):c.310G>A (p.Ala104Thr)	rs150570281	0.00132
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr)	rs142614369	0.00132
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)	rs74315294	0.00131
NM_000553.6(WRN):c.2937T>G (p.Ile979Met)	rs147802438	0.00131
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr)	rs201141958	0.00129
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)	rs150343959	0.00129
NM_203447.4(DOCK8):c.550G>A (p.Val184Met)	rs143461644	0.00129
NM_001006658.3(CR2):c.2903-3C>A	rs372214909	0.00128
NM_001041.4(SI):c.1730T>G (p.Val577Gly)	rs121912615	0.00128
NM_014244.5(ADAMTS2):c.139+4G>A	rs1023653032	0.00128
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg)	rs35201073	0.00128
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)	rs79204362	0.00125
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys)	rs140600202	0.00125
NM_203447.4(DOCK8):c.378C>G (p.Ile126Met)	rs141175202	0.00124
NM_001364905.1(LRBA):c.5754+15T>C	rs112952572	0.00123
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)	rs200300254	0.00123
NM_213607.3(DNAAF19):c.461A>C (p.His154Pro)	rs145457535	0.00123
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu)	rs35993949	0.00121
NM_130839.5(UBE3A):c.618A>T (p.Ala206=)	rs143484751	0.00121
NM_203447.4(DOCK8):c.4724G>A (p.Arg1575Lys)	rs141252560	0.00121
NM_001127178.3(PIGG):c.998G>A (p.Ser333Asn)	rs185712951	0.00119
NM_001379081.2(FREM1):c.4442+3G>A	rs181859461	0.00119
NM_002185.5(IL7R):c.339A>C (p.Glu113Asp)	rs11567735	0.00119
NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp)	rs202232792	0.00119
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile)	rs144761622	0.00117
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=)	rs149506027	0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)	rs1801155	0.00116
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)	rs145138923	0.00116
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr)	rs137868995	0.00116
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)	rs72648958	0.00116
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile)	rs201162411	0.00116
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg)	rs142609245	0.00116
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln)	rs150712805	0.00116
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)	rs121908287	0.00115
NM_020070.4(IGLL1):c.334G>A (p.Ala112Thr)	rs149986237	0.00115
NM_032444.4(SLX4):c.590T>C (p.Val197Ala)	rs147826749	0.00115
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg)	rs150367385	0.00114
NM_032444.4(SLX4):c.3676C>T (p.Arg1226Trp)	rs142008398	0.00114
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)	rs28997570	0.00113
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val)	rs146739496	0.00111
NM_007254.4(PNKP):c.1029+2T>C	rs199919568	0.00111
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp)	rs11568514	0.00110
NM_152383.5(DIS3L2):c.878C>A (p.Pro293His)	rs187563594	0.00110
NM_004130.4(GYG1):c.304G>C (p.Asp102His)	rs143137713	0.00109
NM_013352.4(DSE):c.1961G>A (p.Arg654Gln)	rs61741781	0.00109
NM_018972.4(GDAP1):c.310+6del	rs780828430	0.00109
NM_000492.4(CFTR):c.2620-26A>G	rs201716473	0.00108
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)	rs56264519	0.00108
NM_018076.5(ODAD2):c.3086C>T (p.Ser1029Phe)	rs138588942	0.00108
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)	rs104893915	0.00107
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)	rs34988750	0.00107
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro)	rs61495246	0.00107
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His)	rs143024324	0.00107
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=)	rs141671123	0.00107
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)	rs201043950	0.00106
NM_001673.5(ASNS):c.1364C>T (p.Ser455Phe)	rs61733327	0.00106
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter)	rs147398904	0.00106
NM_000057.4(BLM):c.11T>C (p.Val4Ala)	rs144706057	0.00104
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys)	rs145613634	0.00103
NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu)	rs146603801	0.00103
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)	rs191312027	0.00101
NM_000251.3(MSH2):c.942+2T>A	rs587779195	0.00101
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn)	rs142422990	0.00101
NM_021922.3(FANCE):c.284A>G (p.Gln95Arg)	rs149097636	0.00098
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly)	rs142872154	0.00097
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val)	rs146636139	0.00097
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)	rs111033690	0.00094
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=)	rs139082033	0.00094
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)	rs143999854	0.00093
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)	rs121918054	0.00093
NM_002857.4(PEX19):c.16G>A (p.Glu6Lys)	rs145845197	0.00093
NM_002281.4(KRT81):c.846T>A (p.Tyr282Ter)	rs138597671	0.00092
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr)	rs144899305	0.00092
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu)	rs41303899	0.00092
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)	rs138629441	0.00091
NM_001371986.1(UNC80):c.9760C>A (p.Gln3254Lys)	rs189916631	0.00090
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)	rs113994152	0.00090
NM_002591.4(PCK1):c.7C>T (p.Pro3Ser)	rs147120329	0.00089
NM_203447.4(DOCK8):c.3841-11C>T	rs372829200	0.00089
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile)	rs199768740	0.00088
NM_006785.4(MALT1):c.649+9C>T	rs200919386	0.00088
NM_024537.4(CARS2):c.302G>A (p.Arg101Gln)	rs112070421	0.00088
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)	rs142572218	0.00087
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)	rs74315329	0.00086
NM_001079.4(ZAP70):c.1289+10G>A	rs200538234	0.00086
NM_020549.5(CHAT):c.665G>C (p.Arg222Pro)	rs8178989	0.00086
NM_000026.4(ADSL):c.895A>G (p.Met299Val)	rs34396910	0.00085
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala)	rs138016359	0.00085
NM_003114.5(SPAG1):c.413T>C (p.Leu138Pro)	rs141605537	0.00084
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu)	rs147017625	0.00083
NM_012472.6(DNAAF11):c.232A>G (p.Ile78Val)	rs146175329	0.00083
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)	rs142269885	0.00083
NM_138387.4(G6PC3):c.566G>A (p.Arg189Gln)	rs140294222	0.00083
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)	rs149711770	0.00081
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly)	rs61736440	0.00081
NM_024989.4(PGAP1):c.2287G>A (p.Val763Ile)	rs143960563	0.00081
NM_152393.4(KLHL40):c.1273G>A (p.Gly425Ser)	rs138791086	0.00081
NM_199242.3(UNC13D):c.610A>G (p.Met204Val)	rs144722609	0.00081
NM_000553.6(WRN):c.720T>G (p.Asn240Lys)	rs148229804	0.00080
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)	rs141976414	0.00080
NM_004304.5(ALK):c.4796C>A (p.Pro1599His)	rs1881423	0.00080
NM_005787.6(ALG3):c.1084G>A (p.Val362Ile)	rs186946267	0.00080
NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu)	rs142585703	0.00079
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val)	rs61745150	0.00078
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met)	rs72954276	0.00078
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)	rs181255269	0.00078
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His)	rs34700927	0.00077
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr)	rs201826605	0.00076
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	rs113994097	0.00076
NM_016824.5(ADD3):c.995A>G (p.Asn332Ser)	rs41291894	0.00076
NM_203447.4(DOCK8):c.3988C>G (p.Leu1330Val)	rs148081681	0.00076
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)	rs149729531	0.00075
NM_000433.4(NCF2):c.938C>T (p.Pro313Leu)	rs137937390	0.00074
NM_003122.5(SPINK1):c.-147A>G	rs779832256	0.00074
NM_000443.4(ABCB4):c.696C>T (p.Ala232=)	rs8187791	0.00073
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)	rs137932199	0.00073
NM_018389.5(SLC35C1):c.748G>A (p.Gly250Arg)	rs148606857	0.00073
NM_000251.3(MSH2):c.942+3A>T	rs193922376	0.00072
NM_000402.4(G6PD):c.934G>C (p.Asp312His)	rs137852318	0.00072
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter)	rs150259543	0.00072
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)	rs116135678	0.00072
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)	rs2235006	0.00071
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)	rs58639322	0.00071
NM_006892.4(DNMT3B):c.1144C>T (p.Arg382Cys)	rs35846833	0.00071
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)	rs61746008	0.00070
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)	rs150487794	0.00070
NM_004260.4(RECQL4):c.1868G>A (p.Arg623His)	rs201734382	0.00070
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)	rs763672163	0.00070
NM_152743.4(BRAT1):c.2147C>T (p.Ala716Val)	rs140802292	0.00070
NM_014339.7(IL17RA):c.1232C>T (p.Ala411Val)	rs151166583	0.00069
NM_032444.4(SLX4):c.4261A>T (p.Ile1421Phe)	rs141567438	0.00069
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)	rs201652272	0.00068
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)	rs11555217	0.00068
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg)	rs143205296	0.00068
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)	rs121908529	0.00067
NM_005797.4(MPZL2):c.72del (p.Ile24fs)	rs752672077	0.00067
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu)	rs150334966	0.00066
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser)	rs139203363	0.00066
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	rs80338945	0.00066
NM_004006.3(DMD):c.4233+2C>T	rs147474070	0.00066
NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp)	rs138437966	0.00066
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)	rs199504211	0.00066
NM_021067.5(GINS1):c.247C>T (p.Arg83Cys)	rs137901350	0.00066
NM_198076.6(COX20):c.157+3G>C	rs367956888	0.00066
NM_199242.3(UNC13D):c.2553+5C>G	rs201930023	0.00066
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)	rs111033212	0.00065
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu)	rs142994610	0.00065
NM_001605.3(AARS1):c.2580G>A (p.Leu860=)	rs145581652	0.00065
NM_013339.4(ALG6):c.257+5G>A	rs199682486	0.00065
NM_000026.4(ADSL):c.403-4G>A	rs373652667	0.00064
NM_000543.5(SMPD1):c.689G>A (p.Arg230His)	rs141387770	0.00064
NM_000642.3(AGL):c.334A>G (p.Ile112Val)	rs147024351	0.00064
NM_007126.5(VCP):c.1584C>T (p.Ala528=)	rs147623367	0.00064
NM_015971.4(MRPS7):c.550A>G (p.Met184Val)	rs115047866	0.00064
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His)	rs119484086	0.00064
NM_018714.3(COG1):c.1282-3T>C	rs188853520	0.00064
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly)	rs143990563	0.00064
NM_001086521.2(NDUFAF8):c.195+271C>T	rs745332456	0.00063
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)	rs145843073	0.00063
NM_024513.4(FYCO1):c.4151C>G (p.Ala1384Gly)	rs149783680	0.00063
NM_001006658.3(CR2):c.1676G>A (p.Gly559Glu)	rs143614333	0.00062
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)	rs143994166	0.00062
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val)	rs200074974	0.00062
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr)	rs199784139	0.00062
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)	rs145303331	0.00062
NM_012073.5(CCT5):c.166+8del	rs773556943	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_014049.5(ACAD9):c.1022T>C (p.Leu341Ser)	rs141874052	0.00061
NM_018062.4(FANCL):c.203G>C (p.Arg68Pro)	rs143819820	0.00061
NM_004946.3(DOCK2):c.2939T>C (p.Ile980Thr)	rs148694888	0.00060
NM_198578.4(LRRK2):c.5606T>C (p.Met1869Thr)	rs35602796	0.00060
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys)	rs199506676	0.00059
NM_003977.4(AIP):c.807C>T (p.Phe269=)	rs139407567	0.00059
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)	rs150591260	0.00059
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)	rs386834233	0.00059
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)	rs33947415	0.00058
NM_001481.3(DRC4):c.841G>C (p.Asp281His)	rs139167960	0.00058
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter)	rs121434422	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_001040716.2(PC):c.3107G>A (p.Arg1036His)	rs141237842	0.00057
NM_004064.5(CDKN1B):c.356T>C (p.Ile119Thr)	rs142833529	0.00057
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)	rs143319805	0.00057
NM_000355.4(TCN2):c.784G>C (p.Glu262Gln)	rs61743653	0.00056
NM_001369369.1(FOXN1):c.1184C>T (p.Pro395Leu)	rs199739943	0.00056
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)	rs148660051	0.00056
NM_000027.4(AGA):c.488G>C (p.Cys163Ser)	rs121964904	0.00055
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp)	rs139002130	0.00055
NM_017668.3(NDE1):c.872C>T (p.Ser291Phe)	rs146284370	0.00055
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala)	rs143389605	0.00055
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser)	rs141551053	0.00055
NM_000070.3(CAPN3):c.2380+19C>T	rs141234995	0.00054
NM_000214.3(JAG1):c.133G>T (p.Val45Leu)	rs183974372	0.00054
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg)	rs28931583	0.00054
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter)	rs200045032	0.00054
NM_001271938.2(MEGF8):c.3154T>C (p.Trp1052Arg)	rs202039332	0.00054
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)	rs74315342	0.00054
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser)	rs149017703	0.00054
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu)	rs139287784	0.00054
NM_130839.5(UBE3A):c.1404A>G (p.Thr468=)	rs150331504	0.00054
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)	rs141103838	0.00054
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)	rs34640941	0.00053
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val)	rs202209668	0.00053
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp)	rs143218168	0.00052
NM_000372.5(TYR):c.1037-7T>A	rs61754381	0.00051
NM_006295.3(VARS1):c.3650G>A (p.Arg1217His)	rs368075745	0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)	rs61754388	0.00050
NM_007126.5(VCP):c.*4G>T	rs201091341	0.00050
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn)	rs28929488	0.00049
NM_000277.3(PAH):c.734T>C (p.Val245Ala)	rs76212747	0.00048
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu)	rs149533093	0.00048
NM_004577.4(PSPH):c.94G>A (p.Asp32Asn)	rs104894035	0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	rs141138948	0.00048
NM_017570.5(OPLAH):c.1372G>A (p.Val458Met)	rs144920839	0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	rs137852944	0.00048
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)	rs121434280	0.00047
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)	rs28942073	0.00047
NM_002485.5(NBN):c.628G>T (p.Val210Phe)	rs61754796	0.00047
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)	rs202088921	0.00047
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	rs76434661	0.00047
NM_000016.6(ACADM):c.600-18G>A	rs370523609	0.00046
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)	rs138002793	0.00046
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)	rs143671872	0.00046
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)	rs72554665	0.00046
NM_001130987.2(DYSF):c.2697+1G>A	rs140108514	0.00046
NM_001164508.2(NEB):c.23524C>T (p.Arg7842Cys)	rs184516994	0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	rs80338685	0.00046
NM_001556.3(IKBKB):c.887C>T (p.Pro296Leu)	rs186203343	0.00046
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His)	rs80356892	0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	rs199605265	0.00046
NM_000402.4(G6PD):c.632A>T (p.Asp211Val)	rs5030872	0.00045
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly)	rs200166942	0.00045
NM_001379659.1(ZNF142):c.25C>T (p.Gln9Ter)	rs200699349	0.00045
NM_020549.5(CHAT):c.605T>G (p.Met202Arg)	rs376808313	0.00045
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter)	rs137891647	0.00045
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)	rs183105855	0.00044
NM_001875.5(CPS1):c.74C>A (p.Ala25Glu)	rs149570645	0.00044
NM_020708.5(SLC12A5):c.887G>A (p.Arg296His)	rs114371269	0.00044
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser)	rs142450703	0.00043
NM_001144061.2(COPB1):c.-57-2A>G	rs2290169	0.00043
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)	rs201082652	0.00043
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His)	rs148312697	0.00043
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys)	rs141367100	0.00042
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)	rs368341987	0.00042
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)	rs190521996	0.00042
NM_001267550.2(TTN):c.39044-9T>A	rs184888200	0.00042
NM_001370658.1(BTD):c.68A>G (p.His23Arg)	rs146011150	0.00042
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp)	rs139145143	0.00042
NM_020320.5(RARS2):c.773G>A (p.Arg258His)	rs145297855	0.00042
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)	rs121907998	0.00041
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr)	rs113950465	0.00041
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg)	rs146970027	0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)	rs77563738	0.00041
NM_001358530.2(MOCS1):c.394C>T (p.Arg132Trp)	rs377167949	0.00041
NM_005732.4(RAD50):c.687del (p.Ser229fs)	rs760146707	0.00041
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)	rs150429680	0.00041
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)	rs200179145	0.00041
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser)	rs55886062	0.00040
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)	rs121918170	0.00040
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp)	rs200897773	0.00040
NM_001754.5(RUNX1):c.1269C>T (p.Arg423=)	rs544247912	0.00040
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu)	rs145039072	0.00040
NM_000199.5(SGSH):c.734G>A (p.Arg245His)	rs104894635	0.00039
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)	rs121908759	0.00039
NM_001022.4(RPS19):c.164C>T (p.Thr55Met)	rs147508369	0.00039
NM_001164508.2(NEB):c.5503C>T (p.Arg1835Trp)	rs199694315	0.00039
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr)	rs138962786	0.00039
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)	rs121909398	0.00039
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)	rs200856561	0.00038
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)	rs137852700	0.00038
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)	rs140455771	0.00038
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly)	rs756883400	0.00038
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)	rs199738299	0.00038
NM_001848.3(COL6A1):c.2857G>A (p.Ala953Thr)	rs150378645	0.00038
NM_002637.4(PHKA1):c.536C>T (p.Ala179Val)	rs199608903	0.00038
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)	rs150212784	0.00037
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	rs77375493	0.00037
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)	rs146379816	0.00036
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	rs62642937	0.00036
NM_002016.2(FLG):c.3321del (p.Gly1109fs)	rs200519781	0.00036
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)	rs145252402	0.00036
NM_002693.3(POLG):c.131A>G (p.Gln44Arg)	rs757120802	0.00036
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)	rs564605612	0.00036
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)	rs34637584	0.00036
NM_203447.4(DOCK8):c.54-1G>T	rs192864327	0.00036
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp)	rs143642304	0.00035
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu)	rs183487020	0.00035
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)	rs200321110	0.00035
NM_001048174.2(MUTYH):c.850-2A>G	rs77542170	0.00035
NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg)	rs201714437	0.00035
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)	rs13073139	0.00035
NM_001377.3(DYNC2H1):c.10648T>C (p.Ser3550Pro)	rs200460601	0.00035
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met)	rs779248881	0.00035
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys)	rs151254520	0.00034
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)	rs1801175	0.00034
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)	rs80338848	0.00034
NM_000548.5(TSC2):c.5204T>C (p.Ile1735Thr)	rs786203769	0.00034
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser)	rs150932144	0.00034
NM_001142800.2(EYS):c.2137+1G>A	rs199740930	0.00034
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr)	rs142454476	0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)	rs200050883	0.00034
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn)	rs72553877	0.00034
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=)	rs200092283	0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)	rs140522266	0.00034
NM_016180.5(SLC45A2):c.1518C>T (p.Val506=)	rs150473213	0.00034
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)	rs747253294	0.00034
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu)	rs56369086	0.00033
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)	rs75541969	0.00033
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter)	rs17847577	0.00033
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val)	rs121912714	0.00033
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)	rs201477273	0.00033
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr)	rs138867099	0.00032
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu)	rs74315298	0.00032
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)	rs61761869	0.00032
NM_001127178.3(PIGG):c.2053G>A (p.Gly685Ser)	rs200770933	0.00032
NM_001182.5(ALDH7A1):c.203C>A (p.Thr68Asn)	rs58528748	0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)	rs142763740	0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)	rs28937873	0.00032
NM_018344.6(SLC29A3):c.707C>T (p.Thr236Met)	rs147552838	0.00032
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)	rs142967546	0.00031
NM_000553.6(WRN):c.130C>G (p.Leu44Val)	rs139775895	0.00031
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)	rs121908096	0.00031
NM_004655.4(AXIN2):c.1685C>T (p.Pro562Leu)	rs149764887	0.00031
NM_014363.6(SACS):c.10008A>G (p.Lys3336=)	rs148971954	0.00031
NM_014363.6(SACS):c.2580A>G (p.Gln860=)	rs41283958	0.00031
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)	rs201337954	0.00031
NM_000022.4(ADA):c.643G>A (p.Ala215Thr)	rs114025668	0.00030
NM_000051.4(ATM):c.7174C>T (p.Arg2392Trp)	rs149827260	0.00030
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)	rs138577661	0.00030
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)	rs75193786	0.00030
NM_000277.3(PAH):c.688G>A (p.Val230Ile)	rs62516152	0.00030
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)	rs78769542	0.00030
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=)	rs45475501	0.00030
NM_001360.3(DHCR7):c.376G>A (p.Val126Ile)	rs143587828	0.00030
NM_014384.3(ACAD8):c.466G>T (p.Ala156Ser)	rs201273972	0.00030
NM_024537.4(CARS2):c.563C>T (p.Thr188Met)	rs142034206	0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His)	rs72556554	0.00030
NM_206926.2(SELENON):c.841G>A (p.Gly281Ser)	rs121908188	0.00030
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)	rs369903995	0.00029
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)	rs80338671	0.00029
NM_000372.5(TYR):c.649C>T (p.Arg217Trp)	rs63159160	0.00029
NM_000817.3(GAD1):c.1184+17G>A	rs180969459	0.00029
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys)	rs188094280	0.00029
NM_007294.4(BRCA1):c.-125C>T	rs148196794	0.00029
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln)	rs104894493	0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)	rs119103267	0.00029
NM_152443.3(RDH12):c.869T>G (p.Val290Gly)	rs61740289	0.00029
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn)	rs773242093	0.00029
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile)	rs3092831	0.00028
NM_000228.3(LAMB3):c.958_1034dup (p.Asn345fs)	rs1553277702	0.00028
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)	rs5742904	0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	rs5030868	0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu)	rs144600401	0.00028
NM_003738.5(PTCH2):c.2902G>A (p.Val968Ile)	rs200873074	0.00028
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn)	rs150613320	0.00028
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)	rs28940279	0.00027
NM_000137.4(FAH):c.1062+5G>A	rs80338901	0.00027
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser)	rs142254875	0.00027
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)	rs80338709	0.00027
NM_001042413.2(GLIS3):c.2060C>T (p.Ser687Phe)	rs374929970	0.00027
NM_001164508.2(NEB):c.8024A>G (p.Asp2675Gly)	rs183354017	0.00027
NM_001953.5(TYMP):c.622G>A (p.Val208Met)	rs121913039	0.00027
NM_003060.4(SLC22A5):c.529A>G (p.Met177Val)	rs145068530	0.00027
NM_013314.4(BLNK):c.205-15C>T	rs199854336	0.00027
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val)	rs113994012	0.00027
NM_020381.4(PDSS2):c.1046G>A (p.Arg349Gln)	rs201388841	0.00027
NM_022168.4(IFIH1):c.2016del (p.Asp673fs)	rs773033563	0.00027
NM_025150.5(TARS2):c.1354C>T (p.Arg452Trp)	rs146503501	0.00027
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)	rs121908641	0.00027
NM_152783.5(D2HGDH):c.1184G>A (p.Arg395Gln)	rs201921601	0.00027
NM_000038.6(APC):c.8266A>G (p.Ile2756Val)	rs146115809	0.00026
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)	rs28934891	0.00026
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)	rs137852339	0.00026
NM_000481.4(AMT):c.635T>C (p.Val212Ala)	rs201141125	0.00026
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)	rs137853027	0.00026
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val)	rs386134199	0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)	rs137853011	0.00026
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg)	rs370633684	0.00026
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)	rs143712760	0.00026
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)	rs142931246	0.00025
NM_000441.2(SLC26A4):c.-3-2A>G	rs397516411	0.00025
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser)	rs201842633	0.00025
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu)	rs79027628	0.00025
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)	rs144078282	0.00025
NM_001918.5(DBT):c.670G>T (p.Glu224Ter)	rs74103423	0.00025
NM_005559.4(LAMA1):c.4204C>T (p.Pro1402Ser)	rs202133880	0.00025
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met)	rs200451612	0.00025
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu)	rs142348911	0.00025
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser)	rs185057307	0.00025
NM_152783.5(D2HGDH):c.1039G>A (p.Ala347Thr)	rs142624021	0.00025
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln)	rs199766465	0.00025
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)	rs201738967	0.00024
NM_000237.3(LPL):c.998G>A (p.Arg333His)	rs144466625	0.00024
NM_001040716.2(PC):c.715A>G (p.Ile239Val)	rs148805312	0.00024
NM_001370259.2(MEN1):c.-6G>A	rs768088337	0.00024
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)	rs146136265	0.00024
NM_003850.3(SUCLA2):c.49C>G (p.Arg17Gly)	rs200124902	0.00024
NM_003896.4(ST3GAL5):c.1247G>T (p.Arg416Leu)	rs200683924	0.00024
NM_004260.4(RECQL4):c.2953G>A (p.Val985Met)	rs200629599	0.00024
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)	rs144972972	0.00024
NM_032634.4(PIGO):c.2635G>A (p.Val879Ile)	rs139155910	0.00024
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)	rs137852849	0.00024
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met)	rs144812594	0.00023
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)	rs1800408	0.00023
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)	rs149866955	0.00023
NM_001918.5(DBT):c.901C>T (p.Arg301Cys)	rs185492864	0.00023
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter)	rs146347092	0.00023
NM_014159.7(SETD2):c.19C>T (p.Gln7Ter)	rs541943893	0.00023
NM_000048.4(ASL):c.299T>C (p.Ile100Thr)	rs202142867	0.00022
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met)	rs146243469	0.00022
NM_000098.3(CPT2):c.149C>A (p.Pro50His)	rs28936375	0.00022
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met)	rs199473603	0.00022
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys)	rs147875659	0.00022
NM_001142800.2(EYS):c.3443+1G>T	rs373441420	0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met)	rs79658334	0.00022
NM_033550.4(TP53RK):c.337A>G (p.Met113Val)	rs45570735	0.00022
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)	rs104894636	0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)	rs80358257	0.00021
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)	rs121918167	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_001145860.2(POP1):c.1537C>T (p.Arg513Ter)	rs149102421	0.00021
NM_002016.2(FLG):c.94G>T (p.Glu32Ter)	rs114733570	0.00021
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys)	rs150775371	0.00021
NM_004064.5(CDKN1B):c.-80C>T	rs551236750	0.00021
NM_018161.5(NADSYN1):c.1765-7T>A	rs369264749	0.00021
NM_020529.3(NFKBIA):c.337-20G>A	rs371120371	0.00021
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu)	rs28941773	0.00020
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)	rs63750361	0.00020
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)	rs199475598	0.00020
NM_000465.4(BARD1):c.308G>A (p.Ser103Asn)	rs145629242	0.00020
NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr)	rs189174414	0.00020
NM_005535.3(IL12RB1):c.581-17G>A	rs370354493	0.00020
NM_024339.5(THOC6):c.298T>A (p.Trp100Arg)	rs138632121	0.00020
NM_024339.5(THOC6):c.700G>C (p.Val234Leu)	rs150940923	0.00020
NM_024339.5(THOC6):c.824G>A (p.Gly275Asp)	rs200426926	0.00020
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)	rs138011813	0.00020
NM_198578.4(LRRK2):c.3974G>A (p.Arg1325Gln)	rs72546338	0.00020
NM_000022.4(ADA):c.986C>T (p.Ala329Val)	rs121908715	0.00019
NM_000023.4(SGCA):c.739G>A (p.Val247Met)	rs143570936	0.00019
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)	rs137882485	0.00019
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr)	rs145812395	0.00019
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)	rs147187700	0.00019
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)	rs376676328	0.00019
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)	rs146762316	0.00019
NM_000152.5(GAA):c.693-4G>T	rs200088236	0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)	rs150518260	0.00019
NM_000277.3(PAH):c.506G>A (p.Arg169His)	rs199475679	0.00019
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)	rs61750120	0.00019
NM_000372.5(TYR):c.823G>T (p.Val275Phe)	rs104894314	0.00019
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)	rs28939086	0.00019
NM_000553.6(WRN):c.835C>T (p.Arg279Trp)	rs199923241	0.00019
NM_000628.5(IL10RB):c.215C>T (p.Thr72Met)	rs148466782	0.00019
NM_001182.5(ALDH7A1):c.1276A>G (p.Thr426Ala)	rs150305320	0.00019
NM_001256545.2(MEGF10):c.2176G>A (p.Ala726Thr)	rs139884665	0.00019
NM_001346754.2(PIGW):c.533C>G (p.Ser178Cys)	rs368008171	0.00019
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys)	rs200945460	0.00019
NM_001369369.1(FOXN1):c.497C>T (p.Ala166Val)	rs367793349	0.00019
NM_002435.3(MPI):c.656G>A (p.Arg219Gln)	rs104894489	0.00019
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)	rs121918358	0.00019
NM_004371.4(COPA):c.2234G>A (p.Arg745His)	rs138441444	0.00019
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg)	rs137853150	0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)	rs139366548	0.00019
NM_014679.5(CEP57):c.95C>T (p.Ser32Phe)	rs139110744	0.00019
NM_144508.5(KNL1):c.5974G>T (p.Ala1992Ser)	rs200052077	0.00019
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg)	rs757549770	0.00018
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys)	rs55989760	0.00018
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg)	rs61757383	0.00018
NM_000159.4(GCDH):c.1213A>G (p.Met405Val)	rs141437721	0.00018
NM_000159.4(GCDH):c.572T>C (p.Met191Thr)	rs149120354	0.00018
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys)	rs138065338	0.00018
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)	rs45553235	0.00018
NM_000441.2(SLC26A4):c.919-2A>G	rs111033313	0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	rs121434629	0.00018
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro)	rs121909379	0.00018
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met)	rs114269482	0.00018
NM_005373.3(MPL):c.79+2T>A	rs146249964	0.00018
NM_005592.4(MUSK):c.2368G>A (p.Val790Met)	rs199476083	0.00018
NM_012452.3(TNFRSF13B):c.171G>C (p.Gln57His)	rs149084717	0.00018
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe)	rs150882838	0.00017
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)	rs199821556	0.00017
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu)	rs28936700	0.00017
NM_000156.6(GAMT):c.327G>A (p.Lys109=)	rs80338735	0.00017
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)	rs121434369	0.00017
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)	rs141498002	0.00017
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)	rs72554664	0.00017
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)	rs137853096	0.00017
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)	rs145254330	0.00017
NM_000465.4(BARD1):c.1339C>G (p.Leu447Val)	rs376727038	0.00017
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)	rs587780046	0.00017
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter)	rs56381858	0.00017
NM_001354768.3(NRL):c.654del (p.Cys219fs)	rs761024023	0.00017
NM_012275.3(IL36RN):c.227C>T (p.Pro76Leu)	rs139497891	0.00017
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)	rs371753672	0.00017
NM_016222.4(DDX41):c.490C>T (p.Arg164Trp)	rs142143752	0.00017
NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter)	rs188985665	0.00017
NM_030787.4(CFHR5):c.880G>A (p.Glu294Lys)	rs201084185	0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)	rs104893851	0.00017
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)	rs201375579	0.00016
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)	rs201314561	0.00016
NM_000057.4(BLM):c.3751+10C>T	rs199685140	0.00016
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys)	rs151089298	0.00016
NM_000157.4(GBA1):c.882T>G (p.His294Gln)	rs367968666	0.00016
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)	rs104894423	0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)	rs80034486	0.00016
NM_000492.4(CFTR):c.489+3A>G	rs377729736	0.00016
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)	rs201343342	0.00016
NM_001005498.4(RHBDF2):c.1531G>A (p.Gly511Ser)	rs140196536	0.00016
NM_001164508.2(NEB):c.7309C>T (p.Arg2437Trp)	rs375164626	0.00016
NM_002691.4(POLD1):c.2185G>A (p.Glu729Lys)	rs200931999	0.00016
NM_005591.4(MRE11):c.1643T>C (p.Ile548Thr)	rs373522639	0.00016
NM_005912.3(MC4R):c.508A>G (p.Ile170Val)	rs121913560	0.00016
NM_006231.4(POLE):c.154C>T (p.Arg52Trp)	rs115452881	0.00016
NM_006231.4(POLE):c.3245G>A (p.Arg1082His)	rs201744227	0.00016
NM_006767.4(LZTR1):c.264-13G>A	rs587777176	0.00016
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)	rs121908702	0.00016
NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser)	rs121908419	0.00016
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln)	rs369697947	0.00016
NM_020458.4(TTC7A):c.1189G>A (p.Val397Ile)	rs146284515	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_145059.3(FCSK):c.2047C>T (p.Arg683Cys)	rs755169246	0.00016
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_000251.3(MSH2):c.2537A>G (p.Gln846Arg)	rs140754514	0.00015
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)	rs5030849	0.00015
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)	rs121918019	0.00015
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)	rs200165598	0.00015
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu)	rs376210604	0.00015
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys)	rs80338856	0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)	rs141568342	0.00015
NM_012452.3(TNFRSF13B):c.592C>T (p.Arg198Cys)	rs140781824	0.00015
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys)	rs150283105	0.00015
NM_020320.5(RARS2):c.472_474del (p.Lys158del)	rs757743894	0.00015
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg)	rs148773718	0.00015
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln)	rs121907932	0.00015
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)	rs28941784	0.00015
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)	rs398123084	0.00014
NM_000048.4(ASL):c.857A>G (p.Gln286Arg)	rs28941472	0.00014
NM_000051.4(ATM):c.2927T>C (p.Val976Ala)	rs146145357	0.00014
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr)	rs55854959	0.00014
NM_000081.4(LYST):c.10477T>C (p.Phe3493Leu)	rs200511787	0.00014
NM_000159.4(GCDH):c.1198G>A (p.Val400Met)	rs121434372	0.00014
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr)	rs377403073	0.00014
NM_000275.3(OCA2):c.1239+5G>C	rs757119713	0.00014
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter)	rs764353860	0.00014
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)	rs148032587	0.00014
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)	rs121907954	0.00014
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter)	rs766383135	0.00014
NM_001127178.3(PIGG):c.2552A>C (p.Gln851Pro)	rs150802299	0.00014
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys)	rs144598063	0.00014
NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu)	rs35194393	0.00014
NM_001282225.2(ADA2):c.1065C>A (p.Phe355Leu)	rs116020027	0.00014
NM_001298.3(CNGA3):c.101+1G>A	rs147118493	0.00014
NM_001354640.2(CIROP):c.64C>T (p.Arg22Ter)	rs185661693	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.456G>A (p.Met152Ile)	rs201816949	0.00014
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys)	rs2307440	0.00014
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn)	rs780768015	0.00014
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)	rs34647222	0.00014
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val)	rs200635365	0.00014
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu)	rs199795381	0.00014
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val)	rs146320179	0.00014
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter)	rs398124598	0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)	rs121434274	0.00013
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)	rs200788251	0.00013
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)	rs138945081	0.00013
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)	rs137852623	0.00013
NM_000049.4(ASPA):c.212G>A (p.Arg71His)	rs104894553	0.00013
NM_000051.4(ATM):c.131A>G (p.Asp44Gly)	rs150143957	0.00013
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly)	rs145513717	0.00013
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)	rs201958469	0.00013
NM_000053.4(ATP7B):c.3243+5G>A	rs373193482	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_000088.4(COL1A1):c.1583G>A (p.Arg528His)	rs144751329	0.00013
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)	rs104893924	0.00013
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)	rs755922289	0.00013
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe)	rs149775657	0.00013
NM_000161.3(GCH1):c.610G>A (p.Val204Ile)	rs200891969	0.00013
NM_000169.3(GLA):c.1088G>A (p.Arg363His)	rs111422676	0.00013
NM_000268.4(NF2):c.1439C>T (p.Thr480Met)	rs145666157	0.00013
NM_000274.4(OAT):c.478G>A (p.Val160Met)	rs148433929	0.00013
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)	rs375315619	0.00013
NM_000465.4(BARD1):c.659T>C (p.Leu220Ser)	rs138593305	0.00013
NM_000517.6(HBA2):c.369C>G (p.His123Gln)	rs41479347	0.00013
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val)	rs45448801	0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)	rs121908102	0.00013
NM_001385.3(DPYS):c.1468C>T (p.Arg490Cys)	rs142574766	0.00013
NM_001875.5(CPS1):c.121G>T (p.Val41Phe)	rs148708735	0.00013
NM_002225.5(IVD):c.358G>A (p.Gly120Arg)	rs142761835	0.00013
NM_004304.5(ALK):c.4795C>T (p.Pro1599Ser)	rs373037272	0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)	rs121913049	0.00013
NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln)	rs537908254	0.00013
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)	rs200094982	0.00013
NM_016327.3(UPB1):c.209G>C (p.Arg70Pro)	rs121908066	0.00013
NM_024537.4(CARS2):c.1448T>G (p.Leu483Trp)	rs766266851	0.00013
NM_024884.3(L2HGDH):c.1376A>G (p.Gln459Arg)	rs375890787	0.00013
NM_030653.4(DDX11):c.1403dup (p.Ser469fs)	rs778363138	0.00013
NM_152564.5(VPS13B):c.934A>G (p.Thr312Ala)	rs780702951	0.00013
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	rs201527662	0.00013
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)	rs199840367	0.00013
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg)	rs146017595	0.00012
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg)	rs145667735	0.00012
NM_000051.4(ATM):c.6194T>C (p.Ile2065Thr)	rs372838622	0.00012
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr)	rs199773340	0.00012
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)	rs761341952	0.00012
NM_000214.3(JAG1):c.1706C>T (p.Thr569Met)	rs368438076	0.00012
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	rs61752717	0.00012
NM_000642.3(AGL):c.256C>T (p.Gln86Ter)	rs193186112	0.00012
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)	rs137852870	0.00012
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)	rs138818907	0.00012
NM_003977.4(AIP):c.733G>A (p.Glu245Lys)	rs150645662	0.00012
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val)	rs150321966	0.00012
NM_005921.2(MAP3K1):c.44C>G (p.Pro15Arg)	rs765282250	0.00012
NM_006231.4(POLE):c.1064A>G (p.Lys355Arg)	rs141396559	0.00012
NM_014625.4(NPHS2):c.868G>A (p.Val290Met)	rs200482683	0.00012
NM_014679.5(CEP57):c.764A>G (p.Asn255Ser)	rs768269976	0.00012
NM_016219.5(MAN1B1):c.1789C>T (p.Arg597Trp)	rs374963946	0.00012
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val)	rs201041864	0.00012
NM_058216.3(RAD51C):c.200A>G (p.Glu67Gly)	rs375451955	0.00012
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val)	rs149331537	0.00012
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val)	rs758217005	0.00012
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)	rs904631654	0.00011
NM_000038.6(APC):c.4918C>T (p.Arg1640Trp)	rs373440614	0.00011
NM_000051.4(ATM):c.4477C>T (p.Leu1493Phe)	rs377595814	0.00011
NM_000057.4(BLM):c.1315A>G (p.Met439Val)	rs201231857	0.00011
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln)	rs199967286	0.00011
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)	rs139289675	0.00011
NM_000251.3(MSH2):c.508C>G (p.Gln170Glu)	rs63750843	0.00011
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)	rs372030650	0.00011
NM_000275.3(OCA2):c.1901T>A (p.Ile634Asn)	rs200692258	0.00011
NM_000370.3(TTPA):c.575G>A (p.Arg192His)	rs121917850	0.00011
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)	rs111033205	0.00011
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr)	rs199669988	0.00011
NM_000487.6(ARSA):c.869G>A (p.Arg290His)	rs199476355	0.00011
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter)	rs12118058	0.00011
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)	rs587778778	0.00011
NM_001040716.2(PC):c.1771G>A (p.Ala591Thr)	rs139795235	0.00011
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys)	rs377025174	0.00011
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)	rs199422209	0.00011
NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met)	rs116040763	0.00011
NM_001622.4(AHSG):c.4A>T (p.Lys2Ter)	rs370627604	0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)	rs121964999	0.00011
NM_003482.4(KMT2D):c.8245G>A (p.Val2749Met)	rs376888531	0.00011
NM_003896.4(ST3GAL5):c.1063G>A (p.Glu355Lys)	rs534438354	0.00011
NM_004655.4(AXIN2):c.1948C>T (p.Arg650Cys)	rs148419444	0.00011
NM_005327.7(HADH):c.676T>C (p.Tyr226His)	rs146036912	0.00011
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn)	rs79783591	0.00011
NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe)	rs370444838	0.00011
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)	rs751459058	0.00011
NM_013275.6(ANKRD11):c.3274C>T (p.Pro1092Ser)	rs773172347	0.00011
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly)	rs142236568	0.00011
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys)	rs369762154	0.00011
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn)	rs200322968	0.00011
NM_017763.6(RNF43):c.1207C>T (p.Gln403Ter)	rs1436857798	0.00011
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met)	rs376289130	0.00011
NM_020549.5(CHAT):c.406G>A (p.Val136Met)	rs201479289	0.00011
NM_020975.6(RET):c.1344C>G (p.Asn448Lys)	rs549907428	0.00011
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)	rs757052602	0.00011
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter)	rs199689137	0.00011
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)	rs143031195	0.00011
NM_032444.4(SLX4):c.833G>A (p.Arg278Gln)	rs201192909	0.00011
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys)	rs183276875	0.00011
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr)	rs28363307	0.00011
NM_138387.4(G6PC3):c.687C>T (p.Ser229=)	rs377343204	0.00011
NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe)	rs751084512	0.00011
NM_152383.5(DIS3L2):c.1727G>A (p.Arg576His)	rs200386096	0.00011
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.7988T>C (p.Val2663Ala)	rs377648506	0.00010
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln)	rs201770808	0.00010
NM_000071.3(CBS):c.362G>A (p.Arg121His)	rs770095972	0.00010
NM_000071.3(CBS):c.700G>A (p.Asp234Asn)	rs773734233	0.00010
NM_000071.3(CBS):c.770C>T (p.Thr257Met)	rs758236584	0.00010
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp)	rs376790302	0.00010
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn)	rs200785120	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_000275.3(OCA2):c.1363A>G (p.Arg455Gly)	rs200764804	0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)	rs5030851	0.00010
NM_000286.3(PEX12):c.681-2A>C	rs187526749	0.00010
NM_000303.3(PMM2):c.140C>T (p.Ser47Leu)	rs138306798	0.00010
NM_000388.4(CASR):c.73C>T (p.Arg25Ter)	rs201633414	0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met)	rs137852327	0.00010
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)	rs111033309	0.00010
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)	rs201114717	0.00010
NM_001098.3(ACO2):c.2135C>T (p.Pro712Leu)	rs375761361	0.00010
NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr)	rs140404896	0.00010
NM_001164508.2(NEB):c.7343G>A (p.Arg2448His)	rs373589529	0.00010
NM_001349206.2(LPIN1):c.434C>T (p.Thr145Met)	rs201744351	0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)	rs104893688	0.00010
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg)	rs149977726	0.00010
NM_002225.5(IVD):c.707C>T (p.Thr236Ile)	rs146861563	0.00010
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)	rs181860632	0.00010
NM_003482.4(KMT2D):c.5084-17A>G	rs368795536	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_021095.4(SLC5A6):c.1865_1866del (p.Gln622fs)	rs774193816	0.00010
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)	rs138043021	0.00010
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)	rs137853197	0.00010
NM_152443.3(RDH12):c.701G>A (p.Arg234His)	rs750636662	0.00010
NM_152564.5(VPS13B):c.6657+1G>A	rs180177366	0.00010
NM_176824.3(BBS7):c.968A>G (p.His323Arg)	rs119466001	0.00010
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_000051.4(ATM):c.133C>T (p.Arg45Trp)	rs3218684	0.00009
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr)	rs2229021	0.00009
NM_000051.4(ATM):c.6475T>G (p.Cys2159Gly)	rs150408832	0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)	rs145053092	0.00009
NM_000053.4(ATP7B):c.2731-2A>G	rs367956522	0.00009
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)	rs374094065	0.00009
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser)	rs762866453	0.00009
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile)	rs80359069	0.00009
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)	rs151242354	0.00009
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met)	rs199652831	0.00009
NM_000152.5(GAA):c.1979G>A (p.Arg660His)	rs374143224	0.00009
NM_000153.4(GALC):c.1586C>T (p.Thr529Met)	rs200960659	0.00009
NM_000222.3(KIT):c.1694G>T (p.Gly565Val)	rs200945282	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.97A>C (p.Thr33Pro)	rs63751107	0.00009
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile)	rs765779905	0.00009
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro)	rs62508646	0.00009
NM_000277.3(PAH):c.434A>T (p.Asp145Val)	rs140175796	0.00009
NM_000317.3(PTS):c.317C>T (p.Thr106Met)	rs200712908	0.00009
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)	rs61750145	0.00009
NM_000372.5(TYR):c.325G>A (p.Gly109Arg)	rs61753253	0.00009
NM_000465.4(BARD1):c.2116A>G (p.Lys706Glu)	rs149262370	0.00009
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)	rs116788608	0.00009
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro)	rs398123508	0.00009
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)	rs140342925	0.00009
NM_001113378.2(FANCI):c.3055C>T (p.Arg1019Trp)	rs149167939	0.00009
NM_001164508.2(NEB):c.18859C>T (p.Arg6287Cys)	rs374606967	0.00009
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)	rs145285434	0.00009
NM_001258392.3(CLPB):c.1803G>A (p.Val601=)	rs766600801	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_001370658.1(BTD):c.1395C>G (p.His465Gln)	rs201604102	0.00009
NM_001370658.1(BTD):c.262A>G (p.Ile88Val)	rs976185636	0.00009
NM_002878.4(RAD51D):c.394G>A (p.Val132Ile)	rs201141245	0.00009
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys)	rs60376624	0.00009
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu)	rs121434410	0.00009
NM_003738.5(PTCH2):c.311T>C (p.Leu104Pro)	rs80168454	0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)	rs104894408	0.00009
NM_004064.5(CDKN1B):c.225G>C (p.Glu75Asp)	rs139727620	0.00009
NM_004371.4(COPA):c.778C>T (p.Arg260Cys)	rs773636602	0.00009
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met)	rs369930675	0.00009
NM_005609.4(PYGM):c.1403+5G>A	rs373040789	0.00009
NM_005609.4(PYGM):c.425-26A>G	rs764313717	0.00009
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His)	rs536758576	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_014425.5(INVS):c.2695C>T (p.Arg899Ter)	rs200844390	0.00009
NM_015386.3(COG4):c.2251G>A (p.Asp751Asn)	rs200083914	0.00009
NM_016327.3(UPB1):c.873+1G>A	rs747539101	0.00009
NM_020944.3(GBA2):c.266G>C (p.Cys89Ser)	rs143885818	0.00009
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)	rs188376296	0.00009
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met)	rs104894705	0.00009
NM_024854.5(PYROXD1):c.285+1G>A	rs369083786	0.00009
NM_025243.4(SLC19A3):c.325G>A (p.Val109Ile)	rs780569649	0.00009
NM_033419.5(PGAP3):c.558-10G>A	rs200598755	0.00009
NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys)	rs373514077	0.00009
NM_054012.4(ASS1):c.19G>A (p.Val7Met)	rs149938546	0.00009
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser)	rs139928148	0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)	rs201105958	0.00009
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)	rs79761867	0.00009
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe)	rs142095945	0.00009
NM_206933.4(USH2A):c.2167+5G>A	rs771583281	0.00009
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met)	rs151057466	0.00009
NM_000022.4(ADA):c.221G>T (p.Gly74Val)	rs199422328	0.00008
NM_000048.4(ASL):c.337C>T (p.Arg113Trp)	rs767543051	0.00008
NM_000048.4(ASL):c.571C>T (p.Arg191Trp)	rs143508372	0.00008
NM_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.517-4C>G	rs81002804	0.00008
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His)	rs56010818	0.00008
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu)	rs145886270	0.00008
NM_000152.5(GAA):c.1552-3C>G	rs375470378	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_000249.4(MLH1):c.1709A>G (p.Asn570Ser)	rs375853155	0.00008
NM_000251.3(MSH2):c.820A>G (p.Ile274Val)	rs371944271	0.00008
NM_000274.4(OAT):c.539G>C (p.Arg180Thr)	rs121965040	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_000329.3(RPE65):c.1205G>A (p.Trp402Ter)	rs774130993	0.00008
NM_000355.4(TCN2):c.424A>G (p.Ile142Val)	rs200771616	0.00008
NM_000359.3(TGM1):c.420A>G (p.Ile140Met)	rs139208806	0.00008
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)	rs143010236	0.00008
NM_000380.4(XPA):c.731A>G (p.His244Arg)	rs144725456	0.00008
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr)	rs762780994	0.00008
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)	rs111033307	0.00008
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp)	rs142548565	0.00008
NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr)	rs192816572	0.00008
NM_001142800.2(EYS):c.2953_2961del (p.Thr985_Gly987del)	rs756068592	0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)	rs201540674	0.00008
NM_002878.4(RAD51D):c.355T>C (p.Cys119Arg)	rs201313861	0.00008
NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr)	rs759047530	0.00008
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)	rs373190458	0.00008
NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser)	rs930347206	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_014363.6(SACS):c.7394C>T (p.Ser2465Leu)	rs747676277	0.00008
NM_015937.6(PIGT):c.848A>T (p.Asp283Val)	rs574857016	0.00008
NM_019616.4(F7):c.1085C>T (p.Thr362Met)	rs531225271	0.00008
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser)	rs119103213	0.00008
NM_021939.4(FKBP10):c.520G>A (p.Gly174Ser)	rs140950528	0.00008
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)	rs878855107	0.00008
NM_031844.3(HNRNPU):c.1274G>C (p.Gly425Ala)	rs199596170	0.00008
NM_054012.4(ASS1):c.773C>T (p.Ala258Val)	rs753078725	0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)	rs369925690	0.00008
NM_152743.4(BRAT1):c.1196G>A (p.Arg399Gln)	rs371360176	0.00008
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)	rs144332569	0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)	rs368049814	0.00008
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln)	rs140561784	0.00008
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe)	rs762114560	0.00007
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg)	rs121434278	0.00007
NM_000022.4(ADA):c.320T>C (p.Leu107Pro)	rs121908739	0.00007
NM_000038.6(APC):c.2461G>A (p.Val821Ile)	rs138498551	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_000046.5(ARSB):c.667A>G (p.Ile223Val)	rs367650121	0.00007
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys)	rs28940286	0.00007
NM_000051.4(ATM):c.4658A>C (p.Glu1553Ala)	rs587778075	0.00007
NM_000051.4(ATM):c.496+4T>C	rs587781375	0.00007
NM_000051.4(ATM):c.902G>A (p.Gly301Asp)	rs202208861	0.00007
NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp)	rs539585071	0.00007
NM_000110.4(DPYD):c.220C>T (p.Arg74Ter)	rs189768576	0.00007
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)	rs149797103	0.00007
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)	rs104886457	0.00007
NM_000152.5(GAA):c.1048G>A (p.Val350Met)	rs200412003	0.00007
NM_000152.5(GAA):c.1194+3G>C	rs368539333	0.00007
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser)	rs375690568	0.00007
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys)	rs150938052	0.00007
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys)	rs190705322	0.00007
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu)	rs148317871	0.00007
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)	rs121918169	0.00007
NM_000282.4(PCCA):c.1284+1G>A	rs752761437	0.00007
NM_000383.4(AIRE):c.652+15G>A	rs760027964	0.00007
NM_000402.4(G6PD):c.185A>G (p.His62Arg)	rs137852340	0.00007
NM_000465.4(BARD1):c.119C>T (p.Ala40Val)	rs71579841	0.00007
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)	rs151048781	0.00007
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)	rs141482808	0.00007
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His)	rs559088058	0.00007
NM_000733.4(CD3E):c.103+10T>C	rs143015515	0.00007
NM_000744.7(CHRNA4):c.1106G>A (p.Arg369Gln)	rs200007766	0.00007
NM_001005498.4(RHBDF2):c.2365G>A (p.Ala789Thr)	rs770206566	0.00007
NM_001014.5(RPS10):c.71A>G (p.Lys24Arg)	rs201147592	0.00007
NM_001017420.3(ESCO2):c.1132-7A>G	rs80359862	0.00007
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)	rs121908958	0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)	rs749909863	0.00007
NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe)	rs201028196	0.00007
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser)	rs201101621	0.00007
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter)	rs374420253	0.00007
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg)	rs121913037	0.00007
NM_002225.5(IVD):c.550+1G>A	rs377147994	0.00007
NM_002528.7(NTHL1):c.526-1G>A	rs779757251	0.00007
NM_002691.4(POLD1):c.1574G>A (p.Arg525Gln)	rs372190244	0.00007
NM_002878.4(RAD51D):c.973G>A (p.Gly325Ser)	rs587780106	0.00007
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln)	rs200699819	0.00007
NM_004646.4(NPHS1):c.1049C>T (p.Ser350Phe)	rs570069789	0.00007
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter)	rs137852761	0.00007
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs)	rs587781442	0.00007
NM_005609.4(PYGM):c.1768+1G>A	rs771427957	0.00007
NM_005994.4(TBX2):c.59G>A (p.Arg20Gln)	rs1364709483	0.00007
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)	rs104894178	0.00007
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)	rs189150283	0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His)	rs121908706	0.00007
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val)	rs28897696	0.00007
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter)	rs774654020	0.00007
NM_012203.2(GRHPR):c.626C>T (p.Ser209Phe)	rs375014308	0.00007
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs)	rs386833988	0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)	rs80338795	0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)	rs121918243	0.00007
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer)	rs762890562	0.00007
NM_019023.5(PRMT7):c.499G>A (p.Val167Met)	rs138763605	0.00007
NM_020376.4(PNPLA2):c.326A>G (p.His109Arg)	rs200683247	0.00007
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter)	rs201850378	0.00007
NM_020806.5(GPHN):c.86A>G (p.Asn29Ser)	rs144247888	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_032383.5(HPS3):c.2888-1612G>A	rs281865096	0.00007
NM_053025.4(MYLK):c.2462+5G>A	rs374003770	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_130839.5(UBE3A):c.1064G>C (p.Ser355Thr)	rs141984760	0.00007
NM_130839.5(UBE3A):c.2096A>C (p.Lys699Thr)	rs202161423	0.00007
NM_145059.3(FCSK):c.667T>C (p.Ser223Pro)	rs769009456	0.00007
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly)	rs116802390	0.00007
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)	rs564427867	0.00007
NM_198576.4(AGRN):c.749A>C (p.Asn250Thr)	rs753435616	0.00007
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)	rs111033264	0.00007
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile)	rs775537775	0.00006
NM_000018.4(ACADVL):c.1679-6G>A	rs113994171	0.00006
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln)	rs147366714	0.00006
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala)	rs762991875	0.00006
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn)	rs180177180	0.00006
NM_000038.6(APC):c.5774C>A (p.Pro1925His)	rs762682111	0.00006
NM_000038.6(APC):c.8107A>G (p.Lys2703Glu)	rs730881270	0.00006
NM_000048.4(ASL):c.1366C>T (p.Arg456Trp)	rs759396688	0.00006
NM_000049.4(ASPA):c.746A>T (p.Asp249Val)	rs104894552	0.00006
NM_000051.4(ATM):c.115A>G (p.Thr39Ala)	rs779297339	0.00006
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp)	rs147515380	0.00006
NM_000051.4(ATM):c.2275A>G (p.Ser759Gly)	rs148705269	0.00006
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp)	rs55723361	0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)	rs147915571	0.00006
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)	rs28904921	0.00006
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met)	rs776280797	0.00006
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)	rs80358930	0.00006
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr)	rs199907548	0.00006
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)	rs121918528	0.00006
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp)	rs104894138	0.00006
NM_000110.4(DPYD):c.2579del (p.Gln860fs)	rs746991079	0.00006
NM_000124.4(ERCC6):c.2599-26A>G	rs4253196	0.00006
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn)	rs201589909	0.00006
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser)	rs80338900	0.00006
NM_000137.4(FAH):c.782C>T (p.Pro261Leu)	rs80338898	0.00006
NM_000152.5(GAA):c.1124G>A (p.Arg375His)	rs142752477	0.00006
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)	rs147327209	0.00006
NM_000152.5(GAA):c.266G>A (p.Arg89His)	rs200586324	0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr)	rs121907936	0.00006
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter)	rs137852888	0.00006
NM_000158.4(GBE1):c.555+1G>T	rs759707498	0.00006
NM_000158.4(GBE1):c.785G>A (p.Arg262His)	rs369574719	0.00006
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg)	rs372983141	0.00006
NM_000170.3(GLDC):c.2216G>A (p.Arg739His)	rs121964980	0.00006
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile)	rs376799914	0.00006
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer)	rs779339230	0.00006
NM_000249.4(MLH1):c.453G>A (p.Thr151=)	rs369521379	0.00006
NM_000251.3(MSH2):c.818T>C (p.Val273Ala)	rs144288433	0.00006
NM_000271.5(NPC1):c.2862G>A (p.Ser954=)	rs373517774	0.00006
NM_000275.3(OCA2):c.632C>T (p.Pro211Leu)	rs190612616	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_000288.4(PEX7):c.340-10A>G	rs267608255	0.00006
NM_000289.6(PFKM):c.237+1G>A	rs202143236	0.00006
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr)	rs368582085	0.00006
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu)	rs150719105	0.00006
NM_000310.4(PPT1):c.541G>A (p.Val181Met)	rs148412181	0.00006
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)	rs61752871	0.00006
NM_000360.4(TH):c.1402G>A (p.Val468Met)	rs1800033	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.1226G>A (p.Arg409His)	rs111033305	0.00006
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser)	rs111033308	0.00006
NM_000465.4(BARD1):c.1585C>T (p.Arg529Trp)	rs375515606	0.00006
NM_000465.4(BARD1):c.1793C>A (p.Thr598Asn)	rs376256852	0.00006
NM_000478.6(ALPL):c.407G>A (p.Arg136His)	rs121918011	0.00006
NM_000486.6(AQP2):c.211G>A (p.Val71Met)	rs149659001	0.00006
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)	rs74315475	0.00006
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)	rs1800089	0.00006
NM_000497.4(CYP11B1):c.799+5G>C	rs193922542	0.00006
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)	rs118204437	0.00006
NM_000520.6(HEXA):c.806-7G>A	rs770932296	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.475G>A (p.Val159Met)	rs142416537	0.00006
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln)	rs116314131	0.00006
NM_000540.3(RYR1):c.2996G>A (p.Arg999His)	rs180714609	0.00006
NM_000551.4(VHL):c.89G>A (p.Gly30Glu)	rs1064793290	0.00006
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)	rs267606640	0.00006
NM_000642.3(AGL):c.4260-12A>G	rs369973784	0.00006
NM_001001557.4(GDF6):c.169G>C (p.Asp57His)	rs397514725	0.00006
NM_001002294.3(FMO3):c.929C>T (p.Ser310Leu)	rs572292275	0.00006
NM_001006658.3(CR2):c.818-4C>T	rs370106455	0.00006
NM_001024630.4(RUNX2):c.523A>G (p.Met175Val)	rs201647225	0.00006
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln)	rs113994145	0.00006
NM_001048174.2(MUTYH):c.461G>T (p.Arg154Leu)	rs143353451	0.00006
NM_001083961.2(WDR62):c.2972A>T (p.Asp991Val)	rs749528768	0.00006
NM_001098484.3(SLC4A4):c.1297T>C (p.Cys433Arg)	rs771339934	0.00006
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter)	rs760798455	0.00006
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala)	rs772888249	0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)	rs137853190	0.00006
NM_001145715.3(KPNA7):c.106C>T (p.Arg36Ter)	rs760378316	0.00006
NM_001164508.2(NEB):c.20228G>A (p.Arg6743His)	rs755370356	0.00006
NM_001164508.2(NEB):c.7441A>G (p.Arg2481Gly)	rs149430473	0.00006
NM_001283009.2(RTEL1):c.3110-2A>T	rs377461417	0.00006
NM_001346754.2(PIGW):c.646C>T (p.Arg216Ter)	rs147622852	0.00006
NM_001358530.2(MOCS1):c.217C>T (p.Arg73Trp)	rs104893970	0.00006
NM_001358530.2(MOCS1):c.377G>A (p.Gly126Asp)	rs372246702	0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala)	rs200334114	0.00006
NM_001361.5(DHODH):c.1036C>T (p.Arg346Trp)	rs201947120	0.00006
NM_001365999.1(SZT2):c.4370T>A (p.Phe1457Tyr)	rs147201727	0.00006
NM_001370658.1(BTD):c.566G>A (p.Arg189His)	rs398123139	0.00006
NM_001374828.1(ARID1B):c.1379G>T (p.Gly460Val)	rs1274183370	0.00006
NM_001376.5(DYNC1H1):c.7138G>A (p.Ala2380Thr)	rs550161377	0.00006
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)	rs121913502	0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)	rs200287925	0.00006
NM_002617.4(PEX10):c.814_815del (p.Leu272fs)	rs61752093	0.00006
NM_002693.3(POLG):c.3287G>A (p.Arg1096His)	rs368435864	0.00006
NM_002693.3(POLG):c.868C>T (p.Arg290Cys)	rs753416225	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_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)	rs72552726	0.00006
NM_003072.5(SMARCA4):c.3383-5G>A	rs762528243	0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)	rs121908680	0.00006
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter)	rs386833808	0.00006
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)	rs370644567	0.00006
NM_004260.4(RECQL4):c.862G>A (p.Gly288Arg)	rs199706417	0.00006
NM_004291.4(CARTPT):c.183G>C (p.Leu61Phe)	rs121909065	0.00006
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe)	rs386833895	0.00006
NM_005055.5(RAPSN):c.133G>A (p.Val45Met)	rs121909254	0.00006
NM_005419.4(STAT2):c.903C>T (p.Asn301=)	rs145152331	0.00006
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg)	rs144081869	0.00006
NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu)	rs137853151	0.00006
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp)	rs550922200	0.00006
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys)	rs587777178	0.00006
NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val)	rs121913660	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_007375.4(TARDBP):c.800A>G (p.Asn267Ser)	rs80356718	0.00006
NM_012203.2(GRHPR):c.734+1G>A	rs148049120	0.00006
NM_012434.5(SLC17A5):c.533del (p.Thr178fs)	rs727504156	0.00006
NM_012452.3(TNFRSF13B):c.593G>A (p.Arg198His)	rs150974807	0.00006
NM_013339.4(ALG6):c.338G>A (p.Arg113His)	rs768372697	0.00006
NM_014252.4(SLC25A15):c.823C>T (p.Arg275Ter)	rs202247807	0.00006
NM_014915.3(ANKRD26):c.4636G>C (p.Asp1546His)	rs753924410	0.00006
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser)	rs121908345	0.00006
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)	rs201183360	0.00006
NM_016222.4(DDX41):c.1016G>A (p.Arg339His)	rs774698335	0.00006
NM_017849.4(TMEM127):c.280C>T (p.Arg94Trp)	rs121908824	0.00006
NM_020158.4(EXOSC5):c.341C>T (p.Thr114Ile)	rs542429051	0.00006
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg)	rs119103212	0.00006
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg)	rs147391618	0.00006
NM_020320.5(RARS2):c.965A>G (p.Tyr322Cys)	rs1279762700	0.00006
NM_021629.4(GNB4):c.204-4C>G	rs377746889	0.00006
NM_021729.6(VPS11):c.2536T>G (p.Cys846Gly)	rs34757931	0.00006
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr)	rs370814108	0.00006
NM_024675.4(PALB2):c.109C>A (p.Arg37Ser)	rs200048921	0.00006
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys)	rs201408725	0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	rs137852832	0.00006
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu)	rs759031349	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_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)	rs200391019	0.00006
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)	rs180675584	0.00006
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)	rs200432861	0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter)	rs146960401	0.00006
NM_153006.3(NAGS):c.1552G>A (p.Ala518Thr)	rs745511282	0.00006
NM_153676.4(USH1C):c.308G>A (p.Arg103His)	rs397514500	0.00006
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)	rs386834202	0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)	rs74315398	0.00006
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His)	rs371518124	0.00006
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg)	rs62636264	0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)	rs369522997	0.00006
NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro)	rs150822759	0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)	rs527236139	0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)	rs539192853	0.00006
NM_206933.4(USH2A):c.7595-2144A>G	rs786200928	0.00006
NM_206933.4(USH2A):c.8682-9A>G	rs372347027	0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)	rs121912599	0.00006
NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp)	rs145903120	0.00006
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)	rs113994168	0.00005
NM_000022.4(ADA):c.872C>T (p.Ser291Leu)	rs121908721	0.00005
NM_000023.4(SGCA):c.614C>A (p.Pro205His)	rs757481230	0.00005
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys)	rs121908526	0.00005
NM_000030.3(AGXT):c.698G>A (p.Arg233His)	rs121908527	0.00005
NM_000038.6(APC):c.1553C>T (p.Thr518Met)	rs371453363	0.00005
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu)	rs587782397	0.00005
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser)	rs587782195	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_000051.4(ATM):c.9031A>G (p.Met3011Val)	rs372795527	0.00005
NM_000053.4(ATP7B):c.1285+5G>T	rs370579582	0.00005
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser)	rs137853285	0.00005
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln)	rs121907996	0.00005
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)	rs121907992	0.00005
NM_000057.4(BLM):c.3558+1G>T	rs148969222	0.00005
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=)	rs199879914	0.00005
NM_000059.4(BRCA2):c.9592T>C (p.Cys3198Arg)	rs80359229	0.00005
NM_000064.4(C3):c.193A>C (p.Lys65Gln)	rs539992721	0.00005
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)	rs200379491	0.00005
NM_000071.3(CBS):c.341C>T (p.Ala114Val)	rs121964964	0.00005
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)	rs121964992	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_000112.4(SLC26A2):c.700-1G>C	rs200963884	0.00005
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly)	rs149277003	0.00005
NM_000143.4(FH):c.1127A>C (p.Gln376Pro)	rs200796606	0.00005
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val)	rs104894565	0.00005
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr)	rs144155165	0.00005
NM_000152.5(GAA):c.655G>A (p.Gly219Arg)	rs370950728	0.00005
NM_000155.4(GALT):c.602G>A (p.Arg201His)	rs111033735	0.00005
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser)	rs80338734	0.00005
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln)	rs775606471	0.00005
NM_000182.5(HADHA):c.180+3A>G	rs781222705	0.00005
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn)	rs753472891	0.00005
NM_000202.8(IDS):c.575C>G (p.Pro192Arg)	rs139495864	0.00005
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter)	rs201551805	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.80G>A (p.Arg27Gln)	rs138705565	0.00005
NM_000251.3(MSH2):c.1774A>G (p.Met592Val)	rs371614039	0.00005
NM_000251.3(MSH2):c.2267C>G (p.Thr756Ser)	rs372383829	0.00005
NM_000251.3(MSH2):c.885C>G (p.Asp295Glu)	rs201334592	0.00005
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu)	rs121965044	0.00005
NM_000277.3(PAH):c.1238G>A (p.Arg413His)	rs79931499	0.00005
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)	rs61753245	0.00005
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)	rs121909152	0.00005
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly)	rs140014925	0.00005
NM_000295.5(SERPINA1):c.646+2T>C	rs112661131	0.00005
NM_000303.3(PMM2):c.323C>T (p.Ala108Val)	rs200503569	0.00005
NM_000303.3(PMM2):c.691G>A (p.Val231Met)	rs80338707	0.00005
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu)	rs749720760	0.00005
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu)	rs386833646	0.00005
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro)	rs62645908	0.00005
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr)	rs119455954	0.00005
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)	rs137852314	0.00005
NM_000414.4(HSD17B4):c.280+2T>C	rs770772281	0.00005
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met)	rs111033220	0.00005
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	rs111033256	0.00005
NM_000465.4(BARD1):c.1104C>G (p.Cys368Trp)	rs371147849	0.00005
NM_000465.4(BARD1):c.841C>T (p.Pro281Ser)	rs200059956	0.00005
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)	rs61750427	0.00005
NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser)	rs149889416	0.00005
NM_000486.6(AQP2):c.782C>T (p.Ser261Leu)	rs376000406	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_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)	rs182812968	0.00005
NM_000925.4(PDHB):c.426A>G (p.Ile142Met)	rs151247980	0.00005
NM_001005498.4(RHBDF2):c.359T>C (p.Met120Thr)	rs367658130	0.00005
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser)	rs370789267	0.00005
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter)	rs201454788	0.00005
NM_001134407.3(GRIN2A):c.4170G>A (p.Ser1390=)	rs1057522803	0.00005
NM_001142800.2(EYS):c.6571+5G>A	rs991580368	0.00005
NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter)	rs184722374	0.00005
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter)	rs752683070	0.00005
NM_001177316.2(SLC34A3):c.304+2T>C	rs201293634	0.00005
NM_001243279.3(ACSF3):c.246del (p.Cys83fs)	rs772073893	0.00005
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter)	rs200440128	0.00005
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)	rs104886033	0.00005
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu)	rs80338859	0.00005
NM_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_001876.4(CPT1A):c.1163+1G>A	rs148059333	0.00005
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu)	rs80356779	0.00005
NM_002691.4(POLD1):c.1276G>A (p.Gly426Ser)	rs1060501840	0.00005
NM_002693.3(POLG):c.3104+1G>A	rs138917386	0.00005
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys)	rs377216516	0.00005
NM_003060.4(SLC22A5):c.769C>T (p.Arg257Trp)	rs386134203	0.00005
NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter)	rs121908886	0.00005
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn)	rs769602042	0.00005
NM_004304.5(ALK):c.3338G>A (p.Arg1113Gln)	rs199987354	0.00005
NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu)	rs398124152	0.00005
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)	rs121964954	0.00005
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys)	rs371493232	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_004722.4(AP4M1):c.1140G>A (p.Met380Ile)	rs574878636	0.00005
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)	rs113994207	0.00005
NM_004946.3(DOCK2):c.3073-8A>G	rs113289730	0.00005
NM_005120.3(MED12):c.4864-6C>T	rs1018026145	0.00005
NM_005609.4(PYGM):c.2178-1G>A	rs143670942	0.00005
NM_006231.4(POLE):c.155G>A (p.Arg52Gln)	rs372459649	0.00005
NM_006231.4(POLE):c.2645A>G (p.Asn882Ser)	rs539312991	0.00005
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys)	rs121917839	0.00005
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)	rs587777180	0.00005
NM_006767.4(LZTR1):c.2317G>A (p.Val773Met)	rs199586863	0.00005
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro)	rs201727685	0.00005
NM_007315.4(STAT1):c.1727+13G>A	rs377146580	0.00005
NM_012434.5(SLC17A5):c.1260-2A>C	rs144074675	0.00005
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter)	rs386833993	0.00005
NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter)	rs72553882	0.00005
NM_013275.6(ANKRD11):c.3953C>G (p.Thr1318Ser)	rs570483616	0.00005
NM_014795.4(ZEB2):c.219C>T (p.His73=)	rs778851716	0.00005
NM_016955.4(SEPSECS):c.388+3A>G	rs757504141	0.00005
NM_019616.4(F7):c.364+1G>A	rs1056071555	0.00005
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly)	rs765088174	0.00005
NM_020921.4(NIN):c.5126A>G (p.Asn1709Ser)	rs387907308	0.00005
NM_021098.3(CACNA1H):c.1768C>T (p.Arg590Trp)	rs199920661	0.00005
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln)	rs119103219	0.00005
NM_022132.5(MCCC2):c.384-20A>G	rs770917710	0.00005
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala)	rs277995	0.00005
NM_024120.5(NDUFAF5):c.826C>T (p.Arg276Ter)	rs148305100	0.00005
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val)	rs146434474	0.00005
NM_024675.4(PALB2):c.2234A>G (p.Lys745Arg)	rs142343372	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.3404G>A (p.Gly1135Glu)	rs730881894	0.00005
NM_024675.4(PALB2):c.3412G>A (p.Ala1138Thr)	rs577651839	0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs)	rs312262720	0.00005
NM_052845.4(MMAB):c.562G>A (p.Val188Met)	rs768176676	0.00005
NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg)	rs587780255	0.00005
NM_130839.5(UBE3A):c.1179T>C (p.Asp393=)	rs143000400	0.00005
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)	rs200511261	0.00005
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro)	rs527800020	0.00005
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro)	rs767068756	0.00005
NM_182914.3(SYNE2):c.9778C>T (p.Arg3260Cys)	rs570116954	0.00005
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln)	rs80356605	0.00005
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe)	rs764256655	0.00005
NM_206933.4(USH2A):c.12295-3T>A	rs111033518	0.00005
NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter)	rs184351619	0.00005
NM_000016.6(ACADM):c.1118T>C (p.Val373Ala)	rs373057729	0.00004
NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn)	rs759158371	0.00004
NM_000016.6(ACADM):c.50G>A (p.Arg17His)	rs17848070	0.00004
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)	rs745832866	0.00004
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser)	rs200117742	0.00004
NM_000019.4(ACAT1):c.444_445del (p.Met148fs)	rs727503795	0.00004
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln)	rs370720208	0.00004
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)	rs748936034	0.00004
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro)	rs121908520	0.00004
NM_000035.4(ALDOB):c.379+1G>T	rs138121153	0.00004
NM_000038.6(APC):c.449A>G (p.Lys150Arg)	rs371085910	0.00004
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe)	rs372418435	0.00004
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro)	rs755359126	0.00004
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln)	rs776814144	0.00004
NM_000046.5(ARSB):c.971G>T (p.Gly324Val)	rs398123125	0.00004
NM_000048.4(ASL):c.578G>A (p.Arg193Gln)	rs373697663	0.00004
NM_000051.4(ATM):c.202A>G (p.Ile68Val)	rs35389822	0.00004
NM_000051.4(ATM):c.275A>C (p.Lys92Thr)	rs200151849	0.00004
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)	rs141087784	0.00004
NM_000051.4(ATM):c.4466G>A (p.Arg1489His)	rs201594549	0.00004
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val)	rs376824528	0.00004
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln)	rs730881325	0.00004
NM_000051.4(ATM):c.8558C>T (p.Thr2853Met)	rs141534716	0.00004
NM_000053.4(ATP7B):c.2183A>G (p.Asn728Ser)	rs760713333	0.00004
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)	rs755554442	0.00004
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser)	rs587783318	0.00004
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro)	rs756237962	0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)	rs587779884	0.00004
NM_000070.3(CAPN3):c.1557C>T (p.His519=)	rs368385372	0.00004
NM_000071.3(CBS):c.502G>A (p.Val168Met)	rs121964970	0.00004
NM_000080.4(CHRNE):c.866del (p.Leu289fs)	rs1451776623	0.00004
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)	rs80356701	0.00004
NM_000093.5(COL5A1):c.5311G>A (p.Asp1771Asn)	rs1005244744	0.00004
NM_000098.3(CPT2):c.1646G>A (p.Gly549Asp)	rs186044004	0.00004
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp)	rs373638740	0.00004
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu)	rs568132506	0.00004
NM_000126.4(ETFA):c.52C>T (p.Arg18Ter)	rs754202690	0.00004
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)	rs372254398	0.00004
NM_000135.4(FANCA):c.3349-1G>A	rs769862233	0.00004
NM_000143.4(FH):c.580G>A (p.Ala194Thr)	rs587782215	0.00004
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)	rs148842275	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_000153.4(GALC):c.1592G>A (p.Arg531His)	rs200378205	0.00004
NM_000153.4(GALC):c.2041G>A (p.Val681Met)	rs200607029	0.00004
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met)	rs371517491	0.00004
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser)	rs754967473	0.00004
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys)	rs772802187	0.00004
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys)	rs781477694	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_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.1295_1303del (p.Tyr432_Arg435delinsCys)	rs1567914835	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.1270G>A (p.Ala424Thr)	rs377433038	0.00004
NM_000249.4(MLH1):c.1474G>A (p.Ala492Thr)	rs63751145	0.00004
NM_000249.4(MLH1):c.1628A>G (p.His543Arg)	rs730881742	0.00004
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala)	rs267607840	0.00004
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys)	rs367654552	0.00004
NM_000251.3(MSH2):c.1021C>G (p.Leu341Val)	rs748115066	0.00004
NM_000251.3(MSH2):c.1238A>C (p.Gln413Pro)	rs587779962	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_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)	rs200411226	0.00004
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val)	rs200457227	0.00004
NM_000277.3(PAH):c.1237C>T (p.Arg413Cys)	rs62644467	0.00004
NM_000277.3(PAH):c.261C>A (p.Ser87Arg)	rs62516151	0.00004
NM_000277.3(PAH):c.842+1G>A	rs5030852	0.00004
NM_000277.3(PAH):c.964G>A (p.Ala322Thr)	rs62514957	0.00004
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter)	rs374547385	0.00004
NM_000293.3(PHKB):c.30A>C (p.Glu10Asp)	rs760502380	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_000359.3(TGM1):c.376C>T (p.Arg126Cys)	rs397514524	0.00004
NM_000359.3(TGM1):c.377G>A (p.Arg126His)	rs200491579	0.00004
NM_000359.3(TGM1):c.425G>A (p.Arg142His)	rs121918718	0.00004
NM_000360.4(TH):c.1382C>T (p.Pro461Leu)	rs767635052	0.00004
NM_000360.4(TH):c.91-818G>A	rs753403788	0.00004
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)	rs121917851	0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)	rs137852331	0.00004
NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu)	rs398123388	0.00004
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser)	rs766206507	0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)	rs121908362	0.00004
NM_000465.4(BARD1):c.644A>G (p.Asn215Ser)	rs774929973	0.00004
NM_000465.4(BARD1):c.97G>C (p.Ala33Pro)	rs587782465	0.00004
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu)	rs121918010	0.00004
NM_000481.4(AMT):c.280C>T (p.Arg94Trp)	rs1126422	0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His)	rs121964985	0.00004
NM_000484.4(APP):c.917G>A (p.Arg306His)	rs202218688	0.00004
NM_000492.4(CFTR):c.794T>G (p.Met265Arg)	rs148519623	0.00004
NM_000497.4(CYP11B1):c.412C>T (p.Arg138Cys)	rs764251434	0.00004
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met)	rs104894068	0.00004
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)	rs587779342	0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)	rs118192140	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.787A>G (p.Asn263Asp)	rs72661119	0.00004
NM_000709.4(BCKDHA):c.996-26A>G	rs757986569	0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)	rs587778818	0.00004
NM_000785.4(CYP27B1):c.1226C>T (p.Thr409Ile)	rs118204008	0.00004
NM_000969.5(RPL5):c.403A>G (p.Ile135Val)	rs200075817	0.00004
NM_001005498.4(RHBDF2):c.1912G>A (p.Val638Met)	rs575187651	0.00004
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser)	rs543320028	0.00004
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter)	rs755350165	0.00004
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)	rs143836226	0.00004
NM_001044385.3(TMEM237):c.42+1G>A	rs1378726802	0.00004
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)	rs765123255	0.00004
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys)	rs200495564	0.00004
NM_001048174.2(MUTYH):c.752A>C (p.Asn251Thr)	rs587778534	0.00004
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=)	rs372673338	0.00004
NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter)	rs776838028	0.00004
NM_001080453.3(INTS1):c.229C>T (p.Arg77Cys)	rs200649090	0.00004
NM_001139.3(ALOX12B):c.1156C>T (p.Arg386Cys)	rs750066836	0.00004
NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu)	rs527236068	0.00004
NM_001142800.2(EYS):c.7492G>C (p.Ala2498Pro)	rs1311193836	0.00004
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)	rs121908979	0.00004
NM_001164508.2(NEB):c.4315G>A (p.Glu1439Lys)	rs771779312	0.00004
NM_001164508.2(NEB):c.5429C>T (p.Ala1810Val)	rs752744680	0.00004
NM_001164508.2(NEB):c.6916-20T>C	rs780933765	0.00004
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs)	rs767414973	0.00004
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)	rs147538370	0.00004
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter)	rs746877433	0.00004
NM_001277115.2(DNAH11):c.4333C>T (p.Arg1445Ter)	rs72657316	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_001723.7(DST):c.3370C>T (p.Gln1124Ter)	rs201045495	0.00004
NM_001768.7(CD8A):c.188C>G (p.Ala63Gly)	rs537395900	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_002382.5(MAX):c.56A>T (p.Gln19Leu)	rs200547781	0.00004
NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter)	rs753029097	0.00004
NM_002529.4(NTRK1):c.818G>A (p.Arg273Gln)	rs200305545	0.00004
NM_002691.4(POLD1):c.1118A>G (p.Lys373Arg)	rs770407151	0.00004
NM_002691.4(POLD1):c.1233G>C (p.Gln411His)	rs771349646	0.00004
NM_002691.4(POLD1):c.1295G>A (p.Arg432Gln)	rs139557851	0.00004
NM_002878.4(RAD51D):c.493C>T (p.Arg165Trp)	rs544654228	0.00004
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His)	rs185551386	0.00004
NM_003072.5(SMARCA4):c.656C>T (p.Thr219Met)	rs371832808	0.00004
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys)	rs772731615	0.00004
NM_003482.4(KMT2D):c.13463A>G (p.Asn4488Ser)	rs779247029	0.00004
NM_003482.4(KMT2D):c.7463C>T (p.Ser2488Leu)	rs779629382	0.00004
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter)	rs376078668	0.00004
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)	rs72549395	0.00004
NM_003982.4(SLC7A7):c.377del (p.Ile126fs)	rs774080549	0.00004
NM_003982.4(SLC7A7):c.625+1G>A	rs386833822	0.00004
NM_004064.5(CDKN1B):c.216C>T (p.Gly72=)	rs776643344	0.00004
NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala)	rs557128093	0.00004
NM_004369.4(COL6A3):c.2303G>A (p.Arg768His)	rs575412915	0.00004
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter)	rs398124151	0.00004
NM_004453.4(ETFDH):c.523C>T (p.Arg175Cys)	rs762928354	0.00004
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)	rs386833909	0.00004
NM_004656.4(BAP1):c.1045A>G (p.Asn349Asp)	rs765742255	0.00004
NM_004656.4(BAP1):c.1147C>T (p.Arg383Cys)	rs201844078	0.00004
NM_004656.4(BAP1):c.206C>T (p.Thr69Met)	rs572063023	0.00004
NM_004656.4(BAP1):c.916G>A (p.Glu306Lys)	rs779566198	0.00004
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)	rs113994206	0.00004
NM_005327.7(HADH):c.907G>A (p.Gly303Ser)	rs201772964	0.00004
NM_005476.7(GNE):c.527A>T (p.Asp176Val)	rs139425890	0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala)	rs779694939	0.00004
NM_005591.4(MRE11):c.1015A>T (p.Lys339Ter)	rs984874083	0.00004
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg)	rs398124209	0.00004
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter)	rs767739769	0.00004
NM_005726.6(TSFM):c.944G>A (p.Cys315Tyr)	rs587777688	0.00004
NM_006214.4(PHYH):c.497-2A>G	rs144169488	0.00004
NM_006261.5(PROP1):c.359G>A (p.Arg120His)	rs769171020	0.00004
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter)	rs386833980	0.00004
NM_006493.4(CLN5):c.838G>T (p.Gly280Ter)	rs768449493	0.00004
NM_006567.5(FARS2):c.497C>T (p.Ala166Val)	rs538791135	0.00004
NM_006772.3(SYNGAP1):c.1724G>A (p.Arg575His)	rs758932190	0.00004
NM_006949.4(STXBP2):c.1001C>T (p.Pro334Leu)	rs747031778	0.00004
NM_006949.4(STXBP2):c.80del (p.Glu27fs)	rs747556765	0.00004
NM_007194.4(CHEK2):c.1008G>A (p.Gln336=)	rs201544715	0.00004
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)	rs370968992	0.00004
NM_007194.4(CHEK2):c.400G>C (p.Asp134His)	rs372874441	0.00004
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter)	rs775623164	0.00004
NM_014252.4(SLC25A15):c.815C>T (p.Thr272Ile)	rs121908535	0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)	rs775059063	0.00004
NM_014625.4(NPHS2):c.851C>T (p.Ala284Val)	rs780761368	0.00004
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)	rs199628364	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_017791.3(FLVCR2):c.1019C>T (p.Pro340Leu)	rs750773606	0.00004
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg)	rs121909283	0.00004
NM_018062.4(FANCL):c.472-1G>C	rs768814501	0.00004
NM_018389.5(SLC35C1):c.29G>A (p.Arg10Lys)	rs567155861	0.00004
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)	rs768785753	0.00004
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr)	rs121908372	0.00004
NM_020549.5(CHAT):c.1669G>A (p.Ala557Thr)	rs372760913	0.00004
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu)	rs79853121	0.00004
NM_020975.6(RET):c.406G>A (p.Glu136Lys)	rs79014735	0.00004
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp)	rs775076977	0.00004
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter)	rs119471023	0.00004
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val)	rs119103224	0.00004
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp)	rs141030969	0.00004
NM_024675.4(PALB2):c.100C>T (p.Arg34Cys)	rs373483056	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.2289G>C (p.Leu763Phe)	rs373478248	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_024685.4(BBS10):c.145C>T (p.Arg49Trp)	rs768933093	0.00004
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp)	rs398122978	0.00004
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys)	rs767864243	0.00004
NM_031885.5(BBS2):c.534+1G>T	rs773862084	0.00004
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)	rs752309409	0.00004
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)	rs121909762	0.00004
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)	rs376128990	0.00004
NM_052859.4(RFT1):c.821A>G (p.Asp274Gly)	rs781066087	0.00004
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp)	rs121908640	0.00004
NM_054012.4(ASS1):c.787G>A (p.Val263Met)	rs192838388	0.00004
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys)	rs765338121	0.00004
NM_054012.4(ASS1):c.892del (p.Glu298fs)	rs770362721	0.00004
NM_058216.3(RAD51C):c.721G>A (p.Val241Met)	rs184033132	0.00004
NM_138694.4(PKHD1):c.11665+1G>A	rs759851475	0.00004
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu)	rs199531851	0.00004
NM_138694.4(PKHD1):c.5750A>G (p.Gln1917Arg)	rs1412045164	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_144596.4(TTC8):c.489G>A (p.Thr163=)	rs119103286	0.00004
NM_144997.7(FLCN):c.1418T>C (p.Val473Ala)	rs144883828	0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)	rs28940315	0.00004
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu)	rs116733939	0.00004
NM_153006.3(NAGS):c.1292C>T (p.Thr431Ile)	rs761558985	0.00004
NM_153006.3(NAGS):c.1526G>A (p.Arg509Gln)	rs759076608	0.00004
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)	rs386834182	0.00004
NM_170707.4(LMNA):c.1580G>A (p.Arg527His)	rs57520892	0.00004
NM_176787.5(PIGN):c.2237T>G (p.Ile746Arg)	rs771266203	0.00004
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg)	rs754579374	0.00004
NM_177550.5(SLC13A5):c.1156+20C>T	rs368150158	0.00004
NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe)	rs387906989	0.00004
NM_199242.3(UNC13D):c.2002C>T (p.Arg668Cys)	rs376137910	0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)	rs62635654	0.00004
NM_203447.4(DOCK8):c.2971-5C>T	rs373718659	0.00004
NM_206933.4(USH2A):c.486-14G>A	rs374536346	0.00004
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)	rs111033280	0.00004
NM_206933.4(USH2A):c.908G>A (p.Arg303His)	rs371777049	0.00004
NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter)	rs148207467	0.00003
NM_000016.6(ACADM):c.388-14A>G	rs372525651	0.00003
NM_000016.6(ACADM):c.426del (p.Lys143fs)	rs777998984	0.00003
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys)	rs778906552	0.00003
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys)	rs754359356	0.00003
NM_000016.6(ACADM):c.599+3A>G	rs375921211	0.00003
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg)	rs747268471	0.00003
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val)	rs539029862	0.00003
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)	rs771874163	0.00003
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His)	rs112406105	0.00003
NM_000018.4(ACADVL):c.1182+1G>A	rs113690956	0.00003
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)	rs113994169	0.00003
NM_000018.4(ACADVL):c.1246G>T (p.Ala416Ser)	rs118204018	0.00003
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)	rs751995154	0.00003
NM_000018.4(ACADVL):c.1711G>A (p.Gly571Arg)	rs398123085	0.00003
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp)	rs1085307648	0.00003
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)	rs118204014	0.00003
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln)	rs534647044	0.00003
NM_000018.4(ACADVL):c.277G>A (p.Val93Met)	rs768632138	0.00003
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)	rs199524907	0.00003
NM_000019.4(ACAT1):c.951C>T (p.Asp317=)	rs747714452	0.00003
NM_000022.4(ADA):c.715G>A (p.Gly239Ser)	rs777820729	0.00003
NM_000022.4(ADA):c.890C>A (p.Pro297Gln)	rs121908718	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_000023.4(SGCA):c.518T>C (p.Leu173Pro)	rs143962150	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_000035.4(ALDOB):c.-11+1G>C	rs181639417	0.00003
NM_000038.6(APC):c.1495C>G (p.Arg499Gly)	rs137854580	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.2738A>G (p.His913Arg)	rs762572576	0.00003
NM_000038.6(APC):c.5257G>C (p.Ala1753Pro)	rs587781350	0.00003
NM_000038.6(APC):c.647G>A (p.Arg216Gln)	rs76685252	0.00003
NM_000038.6(APC):c.70C>T (p.Arg24Ter)	rs145945630	0.00003
NM_000038.6(APC):c.7150T>A (p.Leu2384Ile)	rs755345693	0.00003
NM_000038.6(APC):c.7174C>A (p.Pro2392Thr)	rs730881257	0.00003
NM_000038.6(APC):c.7262C>T (p.Ser2421Leu)	rs536557651	0.00003
NM_000038.6(APC):c.757G>A (p.Gly253Ser)	rs772806807	0.00003
NM_000045.4(ARG1):c.383A>G (p.Asp128Gly)	rs140549609	0.00003
NM_000045.4(ARG1):c.871C>T (p.Arg291Ter)	rs104893940	0.00003
NM_000046.5(ARSB):c.1178A>C (p.His393Pro)	rs118203944	0.00003
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys)	rs28940287	0.00003
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln)	rs767271619	0.00003
NM_000048.4(ASL):c.284G>A (p.Arg95His)	rs150244667	0.00003
NM_000048.4(ASL):c.577C>T (p.Arg193Trp)	rs1428029508	0.00003
NM_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.2449G>C (p.Asp817His)	rs587778067	0.00003
NM_000051.4(ATM):c.2639-384A>G	rs1131691154	0.00003
NM_000051.4(ATM):c.2836A>G (p.Met946Val)	rs587781992	0.00003
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr)	rs370282831	0.00003
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)	rs56399311	0.00003
NM_000051.4(ATM):c.649A>G (p.Ile217Val)	rs547045780	0.00003
NM_000051.4(ATM):c.6604T>G (p.Tyr2202Asp)	rs730881311	0.00003
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys)	rs730881383	0.00003
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile)	rs35203200	0.00003
NM_000051.4(ATM):c.7999A>G (p.Met2667Val)	rs34099398	0.00003
NM_000051.4(ATM):c.8596C>G (p.Leu2866Val)	rs368666328	0.00003
NM_000053.4(ATP7B):c.2363C>T (p.Thr788Ile)	rs541408630	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.3809A>G (p.Asn1270Ser)	rs121907990	0.00003
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu)	rs758355520	0.00003
NM_000057.4(BLM):c.3210+2del	rs587779886	0.00003
NM_000057.4(BLM):c.98+1G>C	rs750293380	0.00003
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)	rs771298943	0.00003
NM_000071.3(CBS):c.1058C>T (p.Thr353Met)	rs121964972	0.00003
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp)	rs769080151	0.00003
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu)	rs863223434	0.00003
NM_000071.3(CBS):c.374G>A (p.Arg125Gln)	rs781444670	0.00003
NM_000071.3(CBS):c.737-1G>C	rs757428597	0.00003
NM_000071.3(CBS):c.775G>A (p.Gly259Ser)	rs143124288	0.00003
NM_000071.3(CBS):c.785C>T (p.Thr262Met)	rs149119723	0.00003
NM_000080.4(CHRNE):c.1007_1025del (p.His336fs)	rs1268475945	0.00003
NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu)	rs368311455	0.00003
NM_000098.3(CPT2):c.887G>A (p.Arg296Gln)	rs764849762	0.00003
NM_000102.4(CYP17A1):c.1019G>A (p.Arg340His)	rs765987481	0.00003
NM_000102.4(CYP17A1):c.374G>A (p.Arg125Gln)	rs104894154	0.00003
NM_000102.4(CYP17A1):c.580G>T (p.Glu194Ter)	rs1173000590	0.00003
NM_000108.5(DLD):c.1081A>G (p.Met361Val)	rs121964993	0.00003
NM_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_000112.4(SLC26A2):c.1650del (p.Ser551fs)	rs386833497	0.00003
NM_000135.4(FANCA):c.190-2A>T	rs183350210	0.00003
NM_000135.4(FANCA):c.4015del (p.Leu1339fs)	rs762902309	0.00003
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)	rs149851163	0.00003
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)	rs371897078	0.00003
NM_000136.3(FANCC):c.521+1G>A	rs145394391	0.00003
NM_000137.4(FAH):c.880A>C (p.Thr294Pro)	rs370634385	0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg)	rs199822819	0.00003
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)	rs770610356	0.00003
NM_000152.5(GAA):c.1909C>A (p.Leu637Met)	rs763301606	0.00003
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)	rs776948121	0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His)	rs398123172	0.00003
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg)	rs759292700	0.00003
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)	rs121907938	0.00003
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)	rs144016984	0.00003
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)	rs780321415	0.00003
NM_000152.5(GAA):c.2799+4A>G	rs778032599	0.00003
NM_000152.5(GAA):c.307T>G (p.Cys103Gly)	rs398123174	0.00003
NM_000152.5(GAA):c.503G>A (p.Arg168Gln)	rs376685205	0.00003
NM_000152.5(GAA):c.546G>A (p.Thr182=)	rs143523371	0.00003
NM_000154.2(GALK1):c.708C>A (p.Tyr236Ter)	rs980603321	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.1030C>A (p.Gln344Lys)	rs111033814	0.00003
NM_000155.4(GALT):c.200G>A (p.Arg67His)	rs758430398	0.00003
NM_000155.4(GALT):c.292G>A (p.Asp98Asn)	rs111033670	0.00003
NM_000155.4(GALT):c.512T>C (p.Phe171Ser)	rs111033715	0.00003
NM_000157.4(GBA1):c.681T>G (p.Asn227Lys)	rs381418	0.00003
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln)	rs80338673	0.00003
NM_000158.4(GBE1):c.293T>G (p.Val98Gly)	rs775486403	0.00003
NM_000158.4(GBE1):c.708G>C (p.Gln236His)	rs137852892	0.00003
NM_000158.4(GBE1):c.70del (p.Asp24fs)	rs1407149518	0.00003
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala)	rs770427750	0.00003
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)	rs567564095	0.00003
NM_000159.4(GCDH):c.1148G>A (p.Arg383His)	rs764608975	0.00003
NM_000159.4(GCDH):c.344G>A (p.Cys115Tyr)	rs776758971	0.00003
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu)	rs1057516344	0.00003
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp)	rs766518430	0.00003
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser)	rs752317877	0.00003
NM_000183.3(HADHB):c.1289T>C (p.Phe430Ser)	rs375329638	0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)	rs104894639	0.00003
NM_000199.5(SGSH):c.416C>T (p.Thr139Met)	rs775112689	0.00003
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter)	rs374621913	0.00003
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser)	rs143947056	0.00003
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)	rs17215500	0.00003
NM_000249.4(MLH1):c.116+5G>A	rs267607710	0.00003
NM_000249.4(MLH1):c.1165C>T (p.Arg389Trp)	rs61751644	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.1667+4A>G	rs983986337	0.00003
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu)	rs56185292	0.00003
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)	rs63750952	0.00003
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly)	rs63750809	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.991G>A (p.Glu331Lys)	rs550914672	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.1530G>C (p.Gln510His)	rs587782355	0.00003
NM_000251.3(MSH2):c.1601G>A (p.Arg534His)	rs587778523	0.00003
NM_000251.3(MSH2):c.2517T>A (p.His839Gln)	rs267608016	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.80C>T (p.Pro27Leu)	rs750746034	0.00003
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)	rs397515907	0.00003
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met)	rs371488302	0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	rs3218716	0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His)	rs397516260	0.00003
NM_000264.5(PTCH1):c.139C>T (p.Arg47Trp)	rs138729094	0.00003
NM_000268.4(NF2):c.1774T>C (p.Phe592Leu)	rs764972504	0.00003
NM_000274.4(OAT):c.596C>A (p.Pro199Gln)	rs267606925	0.00003
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met)	rs772019064	0.00003
NM_000275.3(OCA2):c.1714C>T (p.Arg572Cys)	rs374415755	0.00003
NM_000275.3(OCA2):c.2086_2095del (p.Ala696fs)	rs746307353	0.00003
NM_000275.3(OCA2):c.2158C>T (p.Arg720Cys)	rs141545475	0.00003
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)	rs780296175	0.00003
NM_000277.3(PAH):c.1066T>C (p.Tyr356His)	rs62507320	0.00003
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter)	rs62516095	0.00003
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe)	rs376480977	0.00003
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)	rs62516141	0.00003
NM_000277.3(PAH):c.1256A>G (p.Gln419Arg)	rs752255985	0.00003
NM_000277.3(PAH):c.428A>T (p.Asp143Val)	rs199475572	0.00003
NM_000277.3(PAH):c.516G>T (p.Gln172His)	rs192592111	0.00003
NM_000277.3(PAH):c.631C>A (p.Pro211Thr)	rs62514931	0.00003
NM_000277.3(PAH):c.844G>A (p.Asp282Asn)	rs199475582	0.00003
NM_000277.3(PAH):c.916A>G (p.Ile306Val)	rs62642934	0.00003
NM_000277.3(PAH):c.965C>G (p.Ala322Gly)	rs62514958	0.00003
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly)	rs1169861687	0.00003
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)	rs774738181	0.00003
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu)	rs61753219	0.00003
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)	rs121909151	0.00003
NM_000288.4(PEX7):c.858_867del (p.Glu287fs)	rs1185311207	0.00003
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys)	rs746610168	0.00003
NM_000303.3(PMM2):c.640-9T>G	rs370160676	0.00003
NM_000310.4(PPT1):c.529C>G (p.Gln177Glu)	rs386833650	0.00003
NM_000317.3(PTS):c.164-672C>T	rs1030849527	0.00003
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys)	rs762894736	0.00003
NM_000317.3(PTS):c.370G>T (p.Val124Leu)	rs150726932	0.00003
NM_000317.3(PTS):c.84-291A>G	rs1480995114	0.00003
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)	rs61751277	0.00003
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)	rs61752905	0.00003
NM_000359.3(TGM1):c.1631A>G (p.Tyr544Cys)	rs1044429462	0.00003
NM_000359.3(TGM1):c.791G>A (p.Arg264Gln)	rs781006633	0.00003
NM_000359.3(TGM1):c.871G>A (p.Gly291Ser)	rs1437822062	0.00003
NM_000359.3(TGM1):c.876+2T>C	rs151054393	0.00003
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln)	rs121918717	0.00003
NM_000360.4(TH):c.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_000372.5(TYR):c.1064C>T (p.Ala355Val)	rs151206295	0.00003
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met)	rs72547562	0.00003
NM_000396.4(CTSK):c.746T>C (p.Ile249Thr)	rs199919553	0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)	rs5030869	0.00003
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His)	rs748057401	0.00003
NM_000426.4(LAMA2):c.4960-17C>A	rs758048596	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_000435.3(NOTCH3):c.3427C>T (p.Arg1143Cys)	rs60373464	0.00003
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro)	rs201660407	0.00003
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met)	rs121908363	0.00003
NM_000455.5(STK11):c.566C>T (p.Thr189Ile)	rs587781515	0.00003
NM_000465.4(BARD1):c.1247T>G (p.Leu416Arg)	rs878853996	0.00003
NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter)	rs879253880	0.00003
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn)	rs369561166	0.00003
NM_000481.4(AMT):c.887G>A (p.Arg296His)	rs386833690	0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)	rs193922501	0.00003
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)	rs137929307	0.00003
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln)	rs778742647	0.00003
NM_000532.5(PCCB):c.1398+1G>T	rs794727092	0.00003
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr)	rs1353542774	0.00003
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg)	rs746102997	0.00003
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)	rs267608161	0.00003
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln)	rs864309559	0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)	rs111888148	0.00003
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His)	rs771336819	0.00003
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn)	rs749780769	0.00003
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser)	rs587779408	0.00003
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)	rs120074124	0.00003
NM_000543.5(SMPD1):c.940G>A (p.Val314Met)	rs1228068212	0.00003
NM_000548.5(TSC2):c.325G>A (p.Val109Met)	rs369932305	0.00003
NM_000553.6(WRN):c.2959C>T (p.Arg987Ter)	rs747319628	0.00003
NM_000642.3(AGL):c.16C>T (p.Gln6Ter)	rs113994126	0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)	rs387906244	0.00003
NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter)	rs376456598	0.00003
NM_000709.4(BCKDHA):c.288+9C>T	rs398123497	0.00003
NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp)	rs398123499	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_001008216.2(GALE):c.505C>T (p.Arg169Trp)	rs137853859	0.00003
NM_001018115.3(FANCD2):c.2605+1G>A	rs142365855	0.00003
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)	rs587782228	0.00003
NM_001048174.2(MUTYH):c.263G>A (p.Arg88Gln)	rs587782683	0.00003
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)	rs747993448	0.00003
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val)	rs2808001	0.00003
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln)	rs201951824	0.00003
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs)	rs1491132258	0.00003
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)	rs28931569	0.00003
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp)	rs397514532	0.00003
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys)	rs1015857165	0.00003
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs)	rs763028732	0.00003
NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu)	rs1161453292	0.00003
NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr)	rs888739369	0.00003
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs)	rs1326370032	0.00003
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys)	rs121918807	0.00003
NM_001243279.3(ACSF3):c.1535G>A (p.Trp512Ter)	rs1450563045	0.00003
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)	rs398123061	0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp)	rs398123018	0.00003
NM_001297.5(CNGB1):c.2893-7G>A	rs749199721	0.00003
NM_001298.3(CNGA3):c.778G>A (p.Asp260Asn)	rs374258471	0.00003
NM_001352514.2(HLCS):c.1960+5G>A	rs753887925	0.00003
NM_001352514.2(HLCS):c.2121+1G>A	rs1175936807	0.00003
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser)	rs119103230	0.00003
NM_001358921.2(COQ2):c.440G>A (p.Arg147His)	rs121918231	0.00003
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys)	rs80338864	0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)	rs143312232	0.00003
NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter)	rs1032242817	0.00003
NM_001360.3(DHCR7):c.725G>A (p.Arg242His)	rs80338857	0.00003
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter)	rs606231229	0.00003
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter)	rs761622153	0.00003
NM_001370259.2(MEN1):c.1165C>T (p.Arg389Trp)	rs566593066	0.00003
NM_001370259.2(MEN1):c.1594G>T (p.Gly532Cys)	rs587780843	0.00003
NM_001370259.2(MEN1):c.566A>G (p.Asn189Ser)	rs587780844	0.00003
NM_001370259.2(MEN1):c.774G>C (p.Gln258His)	rs374659656	0.00003
NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs)	rs1004027979	0.00003
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu)	rs397514427	0.00003
NM_001370658.1(BTD):c.322T>G (p.Phe108Val)	rs397514355	0.00003
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)	rs397514367	0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met)	rs397514375	0.00003
NM_001370658.1(BTD):c.572G>A (p.Arg191His)	rs112195009	0.00003
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)	rs397514377	0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg)	rs397507176	0.00003
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter)	rs886044666	0.00003
NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu)	rs559623184	0.00003
NM_001848.3(COL6A1):c.1960G>A (p.Glu654Lys)	rs375318905	0.00003
NM_001918.5(DBT):c.252G>T (p.Trp84Cys)	rs200638406	0.00003
NM_001953.5(TYMP):c.1160-1G>A	rs797044455	0.00003
NM_001985.3(ETFB):c.274C>T (p.Pro92Ser)	rs758509148	0.00003
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile)	rs780594709	0.00003
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys)	rs371427844	0.00003
NM_002225.5(IVD):c.1175G>A (p.Arg392His)	rs982218848	0.00003
NM_002225.5(IVD):c.851G>A (p.Arg284Gln)	rs373534546	0.00003
NM_002382.5(MAX):c.397G>A (p.Ala133Thr)	rs750459929	0.00003
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr)	rs369326210	0.00003
NM_002435.3(MPI):c.305C>T (p.Ser102Leu)	rs104894494	0.00003
NM_002435.3(MPI):c.884G>A (p.Arg295His)	rs28928906	0.00003
NM_002528.7(NTHL1):c.604G>T (p.Glu202Ter)	rs919177150	0.00003
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln)	rs724160001	0.00003
NM_002691.4(POLD1):c.1157G>A (p.Arg386His)	rs764023083	0.00003
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp)	rs121918053	0.00003
NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg)	rs121918049	0.00003
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)	rs121918044	0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	rs376607329	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_003060.4(SLC22A5):c.1053-2A>C	rs777004046	0.00003
NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val)	rs199689597	0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)	rs151231558	0.00003
NM_003060.4(SLC22A5):c.453G>A (p.Val151=)	rs386134194	0.00003
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln)	rs121908889	0.00003
NM_003072.5(SMARCA4):c.3952-13C>A	rs374611879	0.00003
NM_003331.5(TYK2):c.691C>T (p.Arg231Trp)	rs201917359	0.00003
NM_003384.3(VRK1):c.356A>G (p.His119Arg)	rs371295780	0.00003
NM_003560.4(PLA2G6):c.116G>A (p.Arg39Gln)	rs144910769	0.00003
NM_003560.4(PLA2G6):c.1187-1G>A	rs1477656610	0.00003
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer)	rs587784353	0.00003
NM_003640.5(ELP1):c.4C>T (p.Arg2Ter)	rs926177767	0.00003
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter)	rs386833807	0.00003
NM_004006.3(DMD):c.1812+1G>A	rs373286166	0.00003
NM_004304.5(ALK):c.386G>T (p.Gly129Val)	rs760041708	0.00003
NM_004304.5(ALK):c.872G>A (p.Arg291His)	rs572340007	0.00003
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile)	rs34738426	0.00003
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser)	rs751821289	0.00003
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer)	rs767795266	0.00003
NM_004453.4(ETFDH):c.405+3A>T	rs796051965	0.00003
NM_004628.5(XPC):c.2074A>T (p.Lys692Ter)	rs374117852	0.00003
NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter)	rs386833887	0.00003
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro)	rs143649022	0.00003
NM_004656.4(BAP1):c.1217A>T (p.Glu406Val)	rs535695655	0.00003
NM_004656.4(BAP1):c.1291G>A (p.Gly431Ser)	rs915913191	0.00003
NM_004656.4(BAP1):c.1441C>A (p.His481Asn)	rs764816701	0.00003
NM_004656.4(BAP1):c.1442A>G (p.His481Arg)	rs150441842	0.00003
NM_004946.3(DOCK2):c.1384-4T>C	rs1295678117	0.00003
NM_005026.5(PIK3CD):c.1955+15C>T	rs186998116	0.00003
NM_005051.3(QARS1):c.1284_1285del (p.Asp430fs)	rs775652214	0.00003
NM_005085.4(NUP214):c.112C>T (p.Arg38Cys)	rs143595616	0.00003
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=)	rs371874117	0.00003
NM_005476.7(GNE):c.1485G>A (p.Trp495Ter)	rs1212623980	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_005559.4(LAMA1):c.4555G>C (p.Gly1519Arg)	rs747710308	0.00003
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter)	rs587781384	0.00003
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro)	rs1005687078	0.00003
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg)	rs769172044	0.00003
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)	rs780656375	0.00003
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln)	rs150911354	0.00003
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys)	rs200038732	0.00003
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala)	rs375215281	0.00003
NM_005677.4(COLQ):c.1354C>T (p.Arg452Cys)	rs368932156	0.00003
NM_005726.6(TSFM):c.934C>T (p.Arg312Trp)	rs121909485	0.00003
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter)	rs121912628	0.00003
NM_005732.4(RAD50):c.412C>T (p.Arg138Ter)	rs786203485	0.00003
NM_006493.4(CLN5):c.522dup (p.Trp175fs)	rs386833979	0.00003
NM_006567.5(FARS2):c.461C>T (p.Ala154Val)	rs749588235	0.00003
NM_006759.4(UGP2):c.34A>G (p.Met12Val)	rs768305634	0.00003
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu)	rs1390048261	0.00003
NM_006772.3(SYNGAP1):c.3913A>G (p.Thr1305Ala)	rs749376396	0.00003
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met)	rs121913659	0.00003
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs)	rs730881700	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.953G>A (p.Arg318His)	rs143611747	0.00003
NM_007272.3(CTRC):c.649G>A (p.Gly217Ser)	rs202058123	0.00003
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr)	rs80357498	0.00003
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)	rs28897672	0.00003
NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg)	rs80357079	0.00003
NM_012203.2(GRHPR):c.905G>A (p.Arg302His)	rs180177323	0.00003
NM_012330.4(KAT6B):c.4834C>T (p.Arg1612Cys)	rs140992439	0.00003
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter)	rs727504157	0.00003
NM_012470.4(TNPO3):c.2326A>G (p.Ile776Val)	rs368873021	0.00003
NM_013339.4(ALG6):c.1249del (p.Gln417fs)	rs771069984	0.00003
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter)	rs755933716	0.00003
NM_014049.5(ACAD9):c.1832A>G (p.Tyr611Cys)	rs1057523761	0.00003
NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp)	rs104894492	0.00003
NM_014249.4(NR2E3):c.229C>T (p.Arg77Trp)	rs779903522	0.00003
NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp)	rs772881093	0.00003
NM_014252.4(SLC25A15):c.337G>A (p.Gly113Ser)	rs199894905	0.00003
NM_014297.5(ETHE1):c.586G>A (p.Asp196Asn)	rs763799125	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.423+1G>A	rs752428321	0.00003
NM_015166.4(MLC1):c.449_455del (p.Leu150fs)	rs1057517090	0.00003
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)	rs761221416	0.00003
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)	rs118204046	0.00003
NM_015713.5(RRM2B):c.329G>A (p.Arg110His)	rs267607025	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_017849.4(TMEM127):c.217G>C (p.Gly73Arg)	rs121908820	0.00003
NM_017849.4(TMEM127):c.281G>A (p.Arg94Gln)	rs746831347	0.00003
NM_018116.4(MSTO1):c.887_888del (p.Leu296fs)	rs752022363	0.00003
NM_018122.5(DARS2):c.172C>G (p.Arg58Gly)	rs375700548	0.00003
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln)	rs773450573	0.00003
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)	rs142500730	0.00003
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter)	rs267606739	0.00003
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp)	rs121908321	0.00003
NM_020166.5(MCCC1):c.684dup (p.Glu229fs)	rs773583869	0.00003
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys)	rs772887102	0.00003
NM_020458.4(TTC7A):c.1433T>C (p.Leu478Pro)	rs201100272	0.00003
NM_020458.4(TTC7A):c.211G>A (p.Glu71Lys)	rs147914967	0.00003
NM_020549.5(CHAT):c.1061C>T (p.Thr354Met)	rs769234940	0.00003
NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys)	rs541910371	0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)	rs146646971	0.00003
NM_020975.6(RET):c.3149G>A (p.Arg1050Gln)	rs200956659	0.00003
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys)	rs587778659	0.00003
NM_021222.3(PRUNE1):c.383G>A (p.Arg128Gln)	rs767769359	0.00003
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu)	rs752866557	0.00003
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr)	rs773774134	0.00003
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys)	rs547662164	0.00003
NM_022464.5(SIL1):c.947dup (p.Arg317fs)	rs767943814	0.00003
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr)	rs200116631	0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)	rs376894444	0.00003
NM_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.1213C>G (p.Pro405Ala)	rs545119348	0.00003
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn)	rs587781954	0.00003
NM_024675.4(PALB2):c.1833C>A (p.Asp611Glu)	rs779184831	0.00003
NM_024675.4(PALB2):c.1882_1890del (p.Lys628_Cys630del)	rs587778583	0.00003
NM_024675.4(PALB2):c.20A>G (p.Lys7Arg)	rs947155109	0.00003
NM_024675.4(PALB2):c.2557G>A (p.Gly853Ser)	rs587782579	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.3235G>T (p.Ala1079Ser)	rs730881878	0.00003
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)	rs142132127	0.00003
NM_024675.4(PALB2):c.788A>G (p.Glu263Gly)	rs745553724	0.00003
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp)	rs104894371	0.00003
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)	rs147030232	0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)	rs121908179	0.00003
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg)	rs376306240	0.00003
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)	rs121908175	0.00003
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp)	rs121908178	0.00003
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)	rs571108955	0.00003
NM_032383.5(HPS3):c.1588C>T (p.Arg530Ter)	rs755841847	0.00003
NM_032756.4(HPDL):c.3G>C (p.Met1Ile)	rs777607274	0.00003
NM_033028.5(BBS4):c.712-1G>A	rs377031435	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_058216.3(RAD51C):c.571+5G>A	rs145779113	0.00003
NM_058216.3(RAD51C):c.730A>G (p.Ile244Val)	rs199886026	0.00003
NM_133259.4(LRPPRC):c.515A>G (p.Tyr172Cys)	rs187584458	0.00003
NM_138425.4(C12orf57):c.1A>G (p.Met1Val)	rs587776954	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.1123C>T (p.Arg375Trp)	rs376040501	0.00003
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg)	rs754626014	0.00003
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter)	rs779050294	0.00003
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu)	rs758352210	0.00003
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)	rs199568593	0.00003
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser)	rs142107837	0.00003
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)	rs367707903	0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs)	rs398124483	0.00003
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)	rs181208607	0.00003
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)	rs893497345	0.00003
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln)	rs770494581	0.00003
NM_144997.7(FLCN):c.1066C>G (p.Leu356Val)	rs757313788	0.00003
NM_144997.7(FLCN):c.1189G>A (p.Val397Met)	rs752006809	0.00003
NM_144997.7(FLCN):c.1580G>A (p.Arg527Gln)	rs777826268	0.00003
NM_144997.7(FLCN):c.1637A>G (p.Asn546Ser)	rs775149348	0.00003
NM_144997.7(FLCN):c.586A>G (p.Ile196Val)	rs201078144	0.00003
NM_144997.7(FLCN):c.634C>A (p.Gln212Lys)	rs558699420	0.00003
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr)	rs761231974	0.00003
NM_152443.3(RDH12):c.164C>T (p.Thr55Met)	rs766631462	0.00003
NM_152443.3(RDH12):c.697G>C (p.Val233Leu)	rs140257538	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_172250.3(MMAA):c.658G>A (p.Val220Met)	rs150376474	0.00003
NM_176787.5(PIGN):c.1251+1G>A	rs1462805697	0.00003
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs)	rs398124572	0.00003
NM_198253.3(TERT):c.193C>G (p.Pro65Ala)	rs544215765	0.00003
NM_198253.3(TERT):c.863C>T (p.Ala288Val)	rs774657340	0.00003
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter)	rs137852856	0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	rs28939720	0.00003
NM_201253.3(CRB1):c.2291G>A (p.Arg764His)	rs375040930	0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)	rs767648174	0.00003
NM_201548.5(CERKL):c.222del (p.Gln74fs)	rs1476585944	0.00003
NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn)	rs606231276	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.15297+1G>C	rs767630412	0.00003
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg)	rs1342455785	0.00003
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter)	rs766590491	0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=)	rs111033272	0.00003
NM_206933.4(USH2A):c.9571-2A>G	rs751111524	0.00003
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)	rs764182950	0.00003
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)	rs749228276	0.00003
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)	rs765648513	0.00003
NM_000016.6(ACADM):c.1237C>T (p.Arg413Cys)	rs139686925	0.00002
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg)	rs757434857	0.00002
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys)	rs398123072	0.00002
NM_000016.6(ACADM):c.158G>A (p.Arg53His)	rs754938068	0.00002
NM_000016.6(ACADM):c.617G>A (p.Arg206His)	rs200724875	0.00002
NM_000016.6(ACADM):c.653C>G (p.Ala218Gly)	rs764268346	0.00002
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr)	rs758111285	0.00002
NM_000016.6(ACADM):c.757G>A (p.Glu253Lys)	rs768884003	0.00002
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr)	rs779759347	0.00002
NM_000016.6(ACADM):c.946-6T>G	rs765793260	0.00002
NM_000016.6(ACADM):c.984del (p.Met328fs)	rs747610156	0.00002
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=)	rs779458466	0.00002
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)	rs2309689	0.00002
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln)	rs138058572	0.00002
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter)	rs786204536	0.00002
NM_000018.4(ACADVL):c.790A>G (p.Lys264Glu)	rs1231343685	0.00002
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs)	rs766192888	0.00002
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)	rs373771053	0.00002
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)	rs120074141	0.00002
NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp)	rs794727893	0.00002
NM_000022.4(ADA):c.454C>A (p.Leu152Met)	rs121908728	0.00002
NM_000022.4(ADA):c.529G>A (p.Val177Met)	rs121908719	0.00002
NM_000022.4(ADA):c.704G>A (p.Arg235Gln)	rs79281338	0.00002
NM_000022.4(ADA):c.911T>G (p.Leu304Arg)	rs199422327	0.00002
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)	rs758647756	0.00002
NM_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_000033.4(ABCD1):c.1747G>A (p.Val583Met)	rs1569541120	0.00002
NM_000038.6(APC):c.1589T>C (p.Val530Ala)	rs202199891	0.00002
NM_000038.6(APC):c.362G>T (p.Arg121Ile)	rs193049694	0.00002
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln)	rs377280518	0.00002
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)	rs118203941	0.00002
NM_000046.5(ARSB):c.305G>A (p.Arg102His)	rs759356342	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.376C>T (p.Arg126Trp)	rs201962738	0.00002
NM_000048.4(ASL):c.377G>A (p.Arg126Gln)	rs777235530	0.00002
NM_000048.4(ASL):c.507G>C (p.Trp169Cys)	rs759952363	0.00002
NM_000048.4(ASL):c.638G>A (p.Arg213Gln)	rs1449589636	0.00002
NM_000049.4(ASPA):c.237-2A>T	rs780936696	0.00002
NM_000049.4(ASPA):c.820G>A (p.Gly274Arg)	rs761064915	0.00002
NM_000049.4(ASPA):c.838C>T (p.Pro280Ser)	rs750505963	0.00002
NM_000051.4(ATM):c.1271C>A (p.Pro424His)	rs147472613	0.00002
NM_000051.4(ATM):c.1855A>C (p.Asn619His)	rs140882609	0.00002
NM_000051.4(ATM):c.3994-2A>G	rs587782276	0.00002
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val)	rs375131360	0.00002
NM_000051.4(ATM):c.8113G>A (p.Val2705Ile)	rs587779870	0.00002
NM_000051.4(ATM):c.901+1G>A	rs748840480	0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)	rs587782292	0.00002
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val)	rs1555291801	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.3517G>A (p.Glu1173Lys)	rs756029120	0.00002
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro)	rs568009639	0.00002
NM_000053.4(ATP7B):c.4049T>C (p.Leu1350Pro)	rs764603742	0.00002
NM_000053.4(ATP7B):c.676C>T (p.Arg226Trp)	rs749626601	0.00002
NM_000057.4(BLM):c.3028del (p.Asp1010fs)	rs780379121	0.00002
NM_000057.4(BLM):c.3839C>G (p.Ser1280Ter)	rs1897349804	0.00002
NM_000057.4(BLM):c.670C>T (p.Gln224Ter)	rs918752814	0.00002
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)	rs398123151	0.00002
NM_000071.3(CBS):c.325T>C (p.Cys109Arg)	rs778220779	0.00002
NM_000071.3(CBS):c.361C>T (p.Arg121Cys)	rs775992753	0.00002
NM_000071.3(CBS):c.430G>A (p.Glu144Lys)	rs121964966	0.00002
NM_000071.3(CBS):c.689del (p.Leu230fs)	rs775351239	0.00002
NM_000071.3(CBS):c.959T>C (p.Val320Ala)	rs781567152	0.00002
NM_000080.4(CHRNE):c.-95G>A	rs990457690	0.00002
NM_000090.4(COL3A1):c.1996G>A (p.Gly666Ser)	rs755528878	0.00002
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser)	rs121912838	0.00002
NM_000094.4(COL7A1):c.7068+5G>A	rs779875751	0.00002
NM_000098.3(CPT2):c.1660C>T (p.Arg554Ter)	rs539239516	0.00002
NM_000102.4(CYP17A1):c.1247G>A (p.Arg416His)	rs104894155	0.00002
NM_000108.5(DLD):c.1214C>A (p.Ser405Ter)	rs1267571380	0.00002
NM_000126.4(ETFA):c.625C>T (p.Arg209Ter)	rs199763682	0.00002
NM_000135.4(FANCA):c.2778+1G>A	rs140180549	0.00002
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu)	rs182657062	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.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.1210G>A (p.Gly404Ser)	rs1297118863	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_000137.4(FAH):c.726G>A (p.Trp242Ter)	rs1567118987	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.1316T>A (p.Met439Lys)	rs747610090	0.00002
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)	rs772883420	0.00002
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)	rs765362308	0.00002
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys)	rs991082382	0.00002
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)	rs753269119	0.00002
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)	rs757617999	0.00002
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)	rs757111744	0.00002
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)	rs778418246	0.00002
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg)	rs1567838823	0.00002
NM_000152.5(GAA):c.317G>A (p.Arg106His)	rs772534106	0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)	rs750030887	0.00002
NM_000155.4(GALT):c.413C>T (p.Thr138Met)	rs111033686	0.00002
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys)	rs111033744	0.00002
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn)	rs774144200	0.00002
NM_000158.4(GBE1):c.1468del (p.Leu490fs)	rs774465102	0.00002
NM_000158.4(GBE1):c.1694G>A (p.Arg565Gln)	rs774619760	0.00002
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro)	rs137852886	0.00002
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val)	rs933624223	0.00002
NM_000159.4(GCDH):c.553G>A (p.Gly185Arg)	rs576948027	0.00002
NM_000159.4(GCDH):c.641C>T (p.Thr214Met)	rs1131692030	0.00002
NM_000159.4(GCDH):c.892G>A (p.Ala298Thr)	rs761765983	0.00002
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp)	rs779315456	0.00002
NM_000159.4(GCDH):c.938G>A (p.Arg313Gln)	rs746220312	0.00002
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp)	rs774393243	0.00002
NM_000182.5(HADHA):c.2114T>A (p.Val705Asp)	rs1240187200	0.00002
NM_000195.5(HPS1):c.1857+2T>C	rs374689398	0.00002
NM_000195.5(HPS1):c.398+2T>C	rs1486224265	0.00002
NM_000195.5(HPS1):c.716T>C (p.Leu239Pro)	rs281865080	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.235A>C (p.Thr79Pro)	rs779703983	0.00002
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg)	rs761607612	0.00002
NM_000199.5(SGSH):c.383C>T (p.Pro128Leu)	rs104894642	0.00002
NM_000231.3(SGCG):c.386-1G>A	rs913248720	0.00002
NM_000249.4(MLH1):c.1256T>C (p.Ile419Thr)	rs377484262	0.00002
NM_000249.4(MLH1):c.1564C>T (p.Arg522Trp)	rs63751703	0.00002
NM_000249.4(MLH1):c.1874A>G (p.Tyr625Cys)	rs748851107	0.00002
NM_000249.4(MLH1):c.226G>A (p.Val76Ile)	rs878853788	0.00002
NM_000249.4(MLH1):c.928A>G (p.Thr310Ala)	rs779581111	0.00002
NM_000251.3(MSH2):c.1124C>T (p.Thr375Ile)	rs774539871	0.00002
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu)	rs374135434	0.00002
NM_000251.3(MSH2):c.1254A>G (p.Ile418Met)	rs751431238	0.00002
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys)	rs63750328	0.00002
NM_000251.3(MSH2):c.2178G>C (p.Met726Ile)	rs587782396	0.00002
NM_000251.3(MSH2):c.2362A>C (p.Thr788Pro)	rs774440277	0.00002
NM_000251.3(MSH2):c.2377C>G (p.Gln793Glu)	rs730881769	0.00002
NM_000251.3(MSH2):c.328A>C (p.Lys110Gln)	rs587779970	0.00002
NM_000255.4(MMUT):c.1091A>C (p.Tyr364Ser)	rs563776413	0.00002
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)	rs397516068	0.00002
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu)	rs751203469	0.00002
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)	rs753520553	0.00002
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys)	rs781065429	0.00002
NM_000275.3(OCA2):c.1699G>A (p.Glu567Lys)	rs779086242	0.00002
NM_000275.3(OCA2):c.440dup (p.Ser148fs)	rs1057518192	0.00002
NM_000277.3(PAH):c.1066-3C>T	rs62507344	0.00002
NM_000277.3(PAH):c.250G>T (p.Asp84Tyr)	rs62514902	0.00002
NM_000277.3(PAH):c.283A>T (p.Ile95Phe)	rs62508682	0.00002
NM_000277.3(PAH):c.581T>C (p.Leu194Pro)	rs5030844	0.00002
NM_000277.3(PAH):c.638T>C (p.Leu213Pro)	rs62516109	0.00002
NM_000277.3(PAH):c.806del (p.Ile269fs)	rs62508687	0.00002
NM_000277.3(PAH):c.842+5G>A	rs62516146	0.00002
NM_000277.3(PAH):c.913-7A>G	rs62517165	0.00002
NM_000282.4(PCCA):c.775_779del (p.Leu259fs)	rs794726976	0.00002
NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp)	rs267608230	0.00002
NM_000295.5(SERPINA1):c.701T>A (p.Val234Glu)	rs746197812	0.00002
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter)	rs1555448899	0.00002
NM_000303.3(PMM2):c.255+1G>A	rs1060499598	0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)	rs104894526	0.00002
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser)	rs532870929	0.00002
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)	rs778932353	0.00002
NM_000317.3(PTS):c.385A>G (p.Lys129Glu)	rs1040441824	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_000359.3(TGM1):c.1223_1227del (p.Asp408fs)	rs398122905	0.00002
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg)	rs121918725	0.00002
NM_000359.3(TGM1):c.857G>A (p.Arg286Gln)	rs121918727	0.00002
NM_000359.3(TGM1):c.967C>T (p.Arg323Trp)	rs771820315	0.00002
NM_000360.4(TH):c.1189G>A (p.Gly397Arg)	rs1264884607	0.00002
NM_000360.4(TH):c.1388C>T (p.Thr463Met)	rs45471299	0.00002
NM_000360.4(TH):c.292C>T (p.Arg98Ter)	rs1057519220	0.00002
NM_000360.4(TH):c.787G>C (p.Gly263Arg)	rs755536257	0.00002
NM_000372.5(TYR):c.1366+1G>T	rs369610829	0.00002
NM_000372.5(TYR):c.658C>T (p.Gln220Ter)	rs797046083	0.00002
NM_000380.4(XPA):c.555G>C (p.Gln185His)	rs746617574	0.00002
NM_000382.3(ALDH3A2):c.683G>A (p.Arg228His)	rs866392702	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.1667A>G (p.Tyr556Cys)	rs763006761	0.00002
NM_000441.2(SLC26A4):c.1707+5G>A	rs192366176	0.00002
NM_000465.4(BARD1):c.1569-13C>G	rs587780018	0.00002
NM_000465.4(BARD1):c.776A>G (p.Asp259Gly)	rs587780036	0.00002
NM_000465.4(BARD1):c.79G>C (p.Glu27Gln)	rs587780037	0.00002
NM_000466.3(PEX1):c.130-1G>T	rs1028247729	0.00002
NM_000478.6(ALPL):c.657G>T (p.Met219Ile)	rs776117933	0.00002
NM_000481.4(AMT):c.574C>T (p.Gln192Ter)	rs121964986	0.00002
NM_000481.4(AMT):c.794G>A (p.Arg265His)	rs757918826	0.00002
NM_000492.4(CFTR):c.165-3C>T	rs200337193	0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)	rs144055758	0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)	rs374705585	0.00002
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His)	rs28934586	0.00002
NM_000497.4(CYP11B1):c.995G>A (p.Arg332Gln)	rs149881706	0.00002
NM_000528.4(MAN2B1):c.1528-1G>A	rs561991886	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_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg)	rs768233248	0.00002
NM_000532.5(PCCB):c.814C>T (p.Arg272Trp)	rs375999824	0.00002
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu)	rs780837200	0.00002
NM_000535.7(PMS2):c.1103A>G (p.Asn368Ser)	rs777814445	0.00002
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)	rs587779338	0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)	rs146876145	0.00002
NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter)	rs201550531	0.00002
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys)	rs372287825	0.00002
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu)	rs753508874	0.00002
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys)	rs769904764	0.00002
NM_000546.6(TP53):c.997C>T (p.Arg333Cys)	rs769934890	0.00002
NM_000548.5(TSC2):c.3293C>T (p.Pro1098Leu)	rs773545852	0.00002
NM_000553.6(WRN):c.1578del (p.Leu528fs)	rs780555196	0.00002
NM_000553.6(WRN):c.210-1G>A	rs758988621	0.00002
NM_000553.6(WRN):c.329dup (p.Tyr110Ter)	rs766733097	0.00002
NM_000553.6(WRN):c.3893G>T (p.Gly1298Val)	rs202129203	0.00002
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)	rs113994129	0.00002
NM_000642.3(AGL):c.4422del (p.Ala1475fs)	rs1286364615	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_000925.4(PDHB):c.956A>T (p.Asp319Val)	rs199983136	0.00002
NM_001008537.3(NEXMIF):c.3728G>A (p.Arg1243His)	rs1256402686	0.00002
NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter)	rs771869385	0.00002
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter)	rs745930696	0.00002
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp)	rs121917787	0.00002
NM_001042413.2(GLIS3):c.94C>T (p.Arg32Ter)	rs753993867	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_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)	rs137854550	0.00002
NM_001042492.3(NF1):c.623C>T (p.Ala208Val)	rs758624540	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_001083961.2(WDR62):c.2515C>T (p.Arg839Trp)	rs377731205	0.00002
NM_001100.4(ACTA1):c.990+1G>T	rs372686280	0.00002
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala)	rs179363900	0.00002
NM_001142800.2(EYS):c.-448+5G>A	rs1175129177	0.00002
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)	rs74419361	0.00002
NM_001142800.2(EYS):c.32dup (p.Met12fs)	rs779372264	0.00002
NM_001142800.2(EYS):c.78_79dup (p.Gln27fs)	rs1352380841	0.00002
NM_001142800.2(EYS):c.8054G>A (p.Gly2685Glu)	rs919157306	0.00002
NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter)	rs933169926	0.00002
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr)	rs80356492	0.00002
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)	rs781784543	0.00002
NM_001206744.2(TPO):c.1994G>A (p.Arg665Gln)	rs140124953	0.00002
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter)	rs201954387	0.00002
NM_001243279.3(ACSF3):c.238C>T (p.Gln80Ter)	rs138156311	0.00002
NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter)	rs142575695	0.00002
NM_001243279.3(ACSF3):c.576G>A (p.Trp192Ter)	rs771558691	0.00002
NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter)	rs145583876	0.00002
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp)	rs104893613	0.00002
NM_001347721.2(DYRK1A):c.1307C>T (p.Thr436Met)	rs759524625	0.00002
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter)	rs148324626	0.00002
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp)	rs769499327	0.00002
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys)	rs781603756	0.00002
NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn)	rs773398782	0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)	rs119103228	0.00002
NM_001360.3(DHCR7):c.1076_1077dup (p.Leu360fs)	rs1318653026	0.00002
NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln)	rs751604696	0.00002
NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter)	rs104886039	0.00002
NM_001360.3(DHCR7):c.321G>C (p.Gln107His)	rs104886040	0.00002
NM_001360016.2(G6PD):c.634A>G (p.Met212Val)	rs782754619	0.00002
NM_001370259.2(MEN1):c.1366C>T (p.Arg456Cys)	rs765306552	0.00002
NM_001370259.2(MEN1):c.989G>A (p.Arg330His)	rs373135175	0.00002
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu)	rs558477960	0.00002
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)	rs397514369	0.00002
NM_001378120.1(MBD5):c.4088T>C (p.Ile1363Thr)	rs748142226	0.00002
NM_001384474.1(LOXHD1):c.4212+1G>A	rs889110926	0.00002
NM_001497.4(B4GALT1):c.61C>T (p.Arg21Trp)	rs1065764	0.00002
NM_001876.4(CPT1A):c.1386del (p.Phe462fs)	rs753776604	0.00002
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn)	rs104894678	0.00002
NM_002225.5(IVD):c.-9A>T	rs373594717	0.00002
NM_002225.5(IVD):c.205G>A (p.Asp69Asn)	rs747273828	0.00002
NM_002225.5(IVD):c.596G>T (p.Gly199Val)	rs121434285	0.00002
NM_002382.5(MAX):c.329A>C (p.Gln110Pro)	rs775808138	0.00002
NM_002437.5(MPV17):c.376-9T>G	rs368900406	0.00002
NM_002528.7(NTHL1):c.115+1G>A	rs749908882	0.00002
NM_002617.4(PEX10):c.868C>G (p.His290Asp)	rs61752094	0.00002
NM_002691.4(POLD1):c.1174G>A (p.Val392Met)	rs778843530	0.00002
NM_002691.4(POLD1):c.1597G>A (p.Val533Met)	rs758602573	0.00002
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys)	rs199759055	0.00002
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr)	rs763393580	0.00002
NM_002693.3(POLG):c.2799T>G (p.Ser933Arg)	rs765916932	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.80C>A (p.Thr27Lys)	rs139642328	0.00002
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter)	rs750621215	0.00002
NM_002887.4(RARS1):c.1535G>A (p.Arg512Gln)	rs369398935	0.00002
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp)	rs267607054	0.00002
NM_003982.4(SLC7A7):c.1116C>G (p.Tyr372Ter)	rs773357652	0.00002
NM_004092.4(ECHS1):c.72G>A (p.Trp24Ter)	rs776926045	0.00002
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro)	rs377686388	0.00002
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu)	rs761669036	0.00002
NM_004629.2(FANCG):c.1144-1G>T	rs755363896	0.00002
NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp)	rs386833874	0.00002
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)	rs386833880	0.00002
NM_004646.4(NPHS1):c.2464G>A (p.Val822Met)	rs267606918	0.00002
NM_004646.4(NPHS1):c.2600G>A (p.Gly867Asp)	rs753656470	0.00002
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr)	rs386833933	0.00002
NM_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter)	rs150855173	0.00002
NM_004646.4(NPHS1):c.928G>A (p.Asp310Asn)	rs763972372	0.00002
NM_004656.4(BAP1):c.1225G>A (p.Val409Met)	rs756443059	0.00002
NM_004656.4(BAP1):c.1251-11G>A	rs981419588	0.00002
NM_004656.4(BAP1):c.358A>G (p.Lys120Glu)	rs774573926	0.00002
NM_004656.4(BAP1):c.995C>T (p.Pro332Leu)	rs772070350	0.00002
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)	rs113994204	0.00002
NM_005076.5(CNTN2):c.2111G>A (p.Arg704Gln)	rs139732381	0.00002
NM_005138.3(SCO2):c.268C>T (p.Arg90Ter)	rs74315512	0.00002
NM_005476.7(GNE):c.1891G>A (p.Ala631Thr)	rs121908626	0.00002
NM_005476.7(GNE):c.302G>A (p.Arg101His)	rs144727134	0.00002
NM_005476.7(GNE):c.829C>T (p.Arg277Cys)	rs762106720	0.00002
NM_005591.4(MRE11):c.1867+2T>C	rs745677716	0.00002
NM_005609.4(PYGM):c.1366G>A (p.Val456Met)	rs398124208	0.00002
NM_005609.4(PYGM):c.1760T>C (p.Leu587Pro)	rs761438921	0.00002
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter)	rs1057517145	0.00002
NM_005609.4(PYGM):c.345+2T>A	rs1219299972	0.00002
NM_005677.4(COLQ):c.1228C>T (p.Arg410Trp)	rs139574075	0.00002
NM_005732.4(RAD50):c.3229C>T (p.Arg1077Ter)	rs368980595	0.00002
NM_005732.4(RAD50):c.3592C>T (p.Arg1198Ter)	rs761837416	0.00002
NM_006019.4(TCIRG1):c.117+1G>A	rs377303800	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_006432.5(NPC2):c.190+5G>A	rs80358268	0.00002
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser)	rs267606948	0.00002
NM_006767.4(LZTR1):c.353G>A (p.Arg118His)	rs769001939	0.00002
NM_006772.3(SYNGAP1):c.4013G>A (p.Arg1338Gln)	rs747376669	0.00002
NM_006949.4(STXBP2):c.1214G>A (p.Arg405Gln)	rs773360200	0.00002
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)	rs200928781	0.00002
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val)	rs373073383	0.00002
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)	rs371657037	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.4997A>G (p.Tyr1666Cys)	rs397509216	0.00002
NM_007294.4(BRCA1):c.5332+4A>G	rs80358166	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.5528C>T (p.Ala1843Val)	rs730881447	0.00002
NM_007327.4(GRIN1):c.794-11T>A	rs1347697507	0.00002
NM_012079.6(DGAT1):c.1183C>T (p.Arg395Ter)	rs372817613	0.00002
NM_012203.2(GRHPR):c.735-1G>A	rs180177317	0.00002
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=)	rs386833990	0.00002
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer)	rs386833992	0.00002
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs)	rs774242915	0.00002
NM_013339.4(ALG6):c.257+2dup	rs745426479	0.00002
NM_014049.5(ACAD9):c.1240C>T (p.Arg414Cys)	rs777282696	0.00002
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp)	rs753711253	0.00002
NM_014159.7(SETD2):c.746C>T (p.Ser249Phe)	rs1162661952	0.00002
NM_014249.4(NR2E3):c.290G>A (p.Arg97His)	rs1489149705	0.00002
NM_014252.4(SLC25A15):c.538G>A (p.Glu180Lys)	rs104894424	0.00002
NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln)	rs745656120	0.00002
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)	rs750732115	0.00002
NM_014384.3(ACAD8):c.905G>A (p.Arg302Gln)	rs121908422	0.00002
NM_014946.4(SPAST):c.878C>T (p.Pro293Leu)	rs773193617	0.00002
NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter)	rs386834005	0.00002
NM_015311.3(OBSL1):c.3955C>T (p.Gln1319Ter)	rs1057518717	0.00002
NM_015702.3(MMADHC):c.776T>C (p.Leu259Pro)	rs118204044	0.00002
NM_015909.4(NBAS):c.409C>T (p.Arg137Trp)	rs368085185	0.00002
NM_016630.7(SPG21):c.141A>G (p.Ile47Met)	rs776641719	0.00002
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)	rs190057175	0.00002
NM_018006.5(TRMU):c.1135G>T (p.Gly379Cys)	rs773023974	0.00002
NM_018129.4(PNPO):c.673C>T (p.Arg225Cys)	rs769266169	0.00002
NM_020166.5(MCCC1):c.137-2A>G	rs727504006	0.00002
NM_020166.5(MCCC1):c.639+5G>T	rs768630906	0.00002
NM_020166.5(MCCC1):c.640-2A>G	rs772395858	0.00002
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)	rs185741664	0.00002
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro)	rs775295739	0.00002
NM_020320.5(RARS2):c.25A>G (p.Ile9Val)	rs748335175	0.00002
NM_020708.5(SLC12A5):c.2658G>A (p.Ala886=)	rs546939045	0.00002
NM_020975.6(RET):c.1678C>T (p.Pro560Ser)	rs748852160	0.00002
NM_020975.6(RET):c.2166G>T (p.Lys722Asn)	rs527726480	0.00002
NM_022081.6(HPS4):c.1546C>T (p.Gln516Ter)	rs372833027	0.00002
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg)	rs761389904	0.00002
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp)	rs760345680	0.00002
NM_024649.5(BBS1):c.1110+329C>T	rs571170303	0.00002
NM_024649.5(BBS1):c.479+2T>G	rs1353098253	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.2752C>T (p.Pro918Ser)	rs515726094	0.00002
NM_024675.4(PALB2):c.2840T>C (p.Leu947Ser)	rs45464500	0.00002
NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly)	rs369132015	0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)	rs180177132	0.00002
NM_024675.4(PALB2):c.3244A>G (p.Ser1082Gly)	rs786203345	0.00002
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)	rs587776527	0.00002
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter)	rs878855122	0.00002
NM_024675.4(PALB2):c.995T>A (p.Leu332His)	rs377149139	0.00002
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro)	rs1460517643	0.00002
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer)	rs1555202584	0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)	rs575957641	0.00002
NM_024757.5(EHMT1):c.1319C>T (p.Pro440Leu)	rs146814571	0.00002
NM_024996.7(GFM1):c.1576C>T (p.Arg526Ter)	rs1004779078	0.00002
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser)	rs119470018	0.00002
NM_025099.6(CTC1):c.1360del (p.Glu454fs)	rs748852501	0.00002
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys)	rs113994149	0.00002
NM_031885.5(BBS2):c.118G>T (p.Val40Phe)	rs886043059	0.00002
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)	rs762047808	0.00002
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp)	rs200062099	0.00002
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp)	rs121908316	0.00002
NM_032383.5(HPS3):c.2733del (p.Leu911_Leu912insTer)	rs765169755	0.00002
NM_032861.4(SERAC1):c.1763del (p.Val588fs)	rs770661156	0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr)	rs766785968	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.175-1119G>A	rs1488840592	0.00002
NM_054012.4(ASS1):c.370G>A (p.Asp124Asn)	rs936192871	0.00002
NM_054012.4(ASS1):c.814C>T (p.Arg272Cys)	rs762387914	0.00002
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)	rs371265106	0.00002
NM_058216.3(RAD51C):c.106G>A (p.Glu36Lys)	rs773998134	0.00002
NM_058216.3(RAD51C):c.706-2A>G	rs587780259	0.00002
NM_058216.3(RAD51C):c.746G>A (p.Arg249His)	rs730881925	0.00002
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)	rs148617572	0.00002
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)	rs760426769	0.00002
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)	rs773136605	0.00002
NM_138694.4(PKHD1):c.390+1G>T	rs752327566	0.00002
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu)	rs191201723	0.00002
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe)	rs367970695	0.00002
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn)	rs774290802	0.00002
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly)	rs369626030	0.00002
NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro)	rs748196998	0.00002
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly)	rs764880309	0.00002
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg)	rs398124497	0.00002
NM_138694.4(PKHD1):c.9059T>C (p.Leu3020Pro)	rs757148837	0.00002
NM_144997.7(FLCN):c.1133G>A (p.Ser378Asn)	rs769489773	0.00002
NM_144997.7(FLCN):c.249+4A>G	rs753648691	0.00002
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp)	rs759408031	0.00002
NM_153006.3(NAGS):c.739C>T (p.Gln247Ter)	rs748875458	0.00002
NM_153033.5(KCTD7):c.458G>A (p.Arg153His)	rs765235486	0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=)	rs151045328	0.00002
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)	rs59885338	0.00002
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro)	rs864309726	0.00002
NM_173354.5(SIK1):c.2034G>T (p.Gln678His)	rs775749558	0.00002
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp)	rs558341655	0.00002
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu)	rs398124561	0.00002
NM_183050.4(BCKDHB):c.506A>G (p.Tyr169Cys)	rs398124580	0.00002
NM_199292.3(TH):c.-71C>T	rs549435434	0.00002
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)	rs145282040	0.00002
NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys)	rs765676754	0.00002
NM_201253.3(CRB1):c.3988del (p.Glu1330fs)	rs1057520152	0.00002
NM_201548.5(CERKL):c.1315C>T (p.Arg439Trp)	rs139300604	0.00002
NM_201548.5(CERKL):c.481+2T>G	rs753994107	0.00002
NM_206933.4(USH2A):c.11048-2A>G	rs200871041	0.00002
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)	rs768161313	0.00002
NM_206933.4(USH2A):c.1391G>A (p.Arg464His)	rs771000800	0.00002
NM_206933.4(USH2A):c.14792-2A>G	rs137853923	0.00002
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met)	rs757676723	0.00002
NM_206933.4(USH2A):c.1644+1G>A	rs912980910	0.00002
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter)	rs757154662	0.00002
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr)	rs746071929	0.00002
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys)	rs201529124	0.00002
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)	rs770329105	0.00002
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)	rs375668376	0.00002
NM_206933.4(USH2A):c.5857+2T>C	rs397518022	0.00002
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter)	rs772690312	0.00002
NM_000016.6(ACADM):c.1042C>T (p.Arg348Cys)	rs1648832587	0.00001
NM_000016.6(ACADM):c.1052C>T (p.Thr351Ile)	rs766140986	0.00001
NM_000016.6(ACADM):c.1114dup (p.Ala372fs)	rs1057516278	0.00001
NM_000016.6(ACADM):c.1238G>A (p.Arg413His)	rs1337929727	0.00001
NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter)	rs753928772	0.00001
NM_000016.6(ACADM):c.216+5G>T	rs528788578	0.00001
NM_000016.6(ACADM):c.253G>T (p.Gly85Cys)	rs398123075	0.00001
NM_000016.6(ACADM):c.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.362C>T (p.Thr121Ile)	rs121434283	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>A (p.Met149Ile)	rs121434277	0.00001
NM_000016.6(ACADM):c.464T>C (p.Met155Thr)	rs875989876	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.601del (p.Tyr201fs)	rs772650083	0.00001
NM_000016.6(ACADM):c.609A>C (p.Leu203Phe)	rs751829413	0.00001
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys)	rs373715782	0.00001
NM_000016.6(ACADM):c.661G>A (p.Gly221Arg)	rs753627680	0.00001
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr)	rs770273135	0.00001
NM_000016.6(ACADM):c.709-13A>G	rs746483754	0.00001
NM_000016.6(ACADM):c.709-1G>A	rs941714381	0.00001
NM_000016.6(ACADM):c.717C>G (p.Asn239Lys)	rs1348176225	0.00001
NM_000016.6(ACADM):c.728G>A (p.Arg243Gln)	rs373852490	0.00001
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu)	rs121434281	0.00001
NM_000016.6(ACADM):c.849+2T>C	rs780737237	0.00001
NM_000016.6(ACADM):c.91C>T (p.Arg31Cys)	rs768452911	0.00001
NM_000016.6(ACADM):c.92G>A (p.Arg31His)	rs529894272	0.00001
NM_000016.6(ACADM):c.946-2A>C	rs758753966	0.00001
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly)	rs387906950	0.00001
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg)	rs398123079	0.00001
NM_000018.4(ACADVL):c.1045G>A (p.Ala349Thr)	rs1567565733	0.00001
NM_000018.4(ACADVL):c.1077+1G>T	rs140989450	0.00001
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser)	rs758928307	0.00001
NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln)	rs118204015	0.00001
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn)	rs1057523504	0.00001
NM_000018.4(ACADVL):c.1182+3G>T	rs376281637	0.00001
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met)	rs149116708	0.00001
NM_000018.4(ACADVL):c.1268C>A (p.Ser423Ter)	rs1451455641	0.00001
NM_000018.4(ACADVL):c.1269G>A (p.Ser423=)	rs765356942	0.00001
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp)	rs533055438	0.00001
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)	rs118204016	0.00001
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter)	rs794727113	0.00001
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His)	rs794727112	0.00001
NM_000018.4(ACADVL):c.1368dup (p.Ile457fs)	rs1175359422	0.00001
NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu)	rs118204017	0.00001
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp)	rs766742117	0.00001
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu)	rs200366828	0.00001
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp)	rs113994170	0.00001
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln)	rs398123083	0.00001
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro)	rs759775666	0.00001
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp)	rs771025937	0.00001
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln)	rs200771970	0.00001
NM_000018.4(ACADVL):c.1807dup (p.Cys603fs)	rs1555529088	0.00001
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu)	rs750043368	0.00001
NM_000018.4(ACADVL):c.342+18G>A	rs372594520	0.00001
NM_000018.4(ACADVL):c.343-1G>A	rs1555527877	0.00001
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)	rs1057520088	0.00001
NM_000018.4(ACADVL):c.497_498del (p.Ile166fs)	rs1057516369	0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)	rs727503791	0.00001
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)	rs545215807	0.00001
NM_000018.4(ACADVL):c.577G>C (p.Gly193Arg)	rs763630981	0.00001
NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter)	rs371407903	0.00001
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro)	rs398123090	0.00001
NM_000018.4(ACADVL):c.622G>A (p.Gly208Arg)	rs748329498	0.00001
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr)	rs140629318	0.00001
NM_000018.4(ACADVL):c.637G>C (p.Ala213Pro)	rs140629318	0.00001
NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys)	rs1432183079	0.00001
NM_000018.4(ACADVL):c.652_682dup (p.Ile228fs)	rs746860401	0.00001
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)	rs398123091	0.00001
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly)	rs749159573	0.00001
NM_000018.4(ACADVL):c.753-2A>C	rs398123092	0.00001
NM_000018.4(ACADVL):c.770del (p.Asp257fs)	rs2071264706	0.00001
NM_000018.4(ACADVL):c.773T>C (p.Ile258Thr)	rs1197133430	0.00001
NM_000018.4(ACADVL):c.869G>A (p.Gly290Asp)	rs866464446	0.00001
NM_000018.4(ACADVL):c.878+1G>C	rs757946752	0.00001
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu)	rs200573371	0.00001
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs)	rs753108198	0.00001
NM_000018.4(ACADVL):c.896A>T (p.Lys299Met)	rs771247610	0.00001
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr)	rs748303093	0.00001
NM_000019.4(ACAT1):c.1163+1G>A	rs1423476705	0.00001
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile)	rs377295639	0.00001
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser)	rs1278227329	0.00001
NM_000019.4(ACAT1):c.380C>T (p.Ala127Val)	rs1591363760	0.00001
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)	rs148639841	0.00001
NM_000019.4(ACAT1):c.749del (p.Val250fs)	rs1565293957	0.00001
NM_000019.4(ACAT1):c.826+1G>T	rs727503796	0.00001
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr)	rs120074146	0.00001
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro)	rs120074147	0.00001
NM_000022.4(ADA):c.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.536C>A (p.Ala179Asp)	rs121908727	0.00001
NM_000022.4(ADA):c.58G>A (p.Gly20Arg)	rs121908724	0.00001
NM_000022.4(ADA):c.631C>T (p.Arg211Cys)	rs121908740	0.00001
NM_000022.4(ADA):c.678+5G>C	rs763478578	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.157G>A (p.Ala53Thr)	rs60407644	0.00001
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr)	rs759692350	0.00001
NM_000023.4(SGCA):c.197T>A (p.Leu66His)	rs767928766	0.00001
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp)	rs757888349	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.92T>C (p.Leu31Pro)	rs903823830	0.00001
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro)	rs777821034	0.00001
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro)	rs771121666	0.00001
NM_000026.4(ADSL):c.439A>G (p.Lys147Glu)	rs746180694	0.00001
NM_000027.4(AGA):c.375_378del (p.Thr125_Leu126insTer)	rs1736926873	0.00001
NM_000027.4(AGA):c.395-8A>G	rs386833426	0.00001
NM_000027.4(AGA):c.770C>T (p.Thr257Ile)	rs386833434	0.00001
NM_000027.4(AGA):c.800dup (p.Pro268fs)	rs386833436	0.00001
NM_000030.3(AGXT):c.1078C>T (p.Arg360Trp)	rs758493460	0.00001
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln)	rs180177161	0.00001
NM_000030.3(AGXT):c.107G>A (p.Arg36His)	rs180177162	0.00001
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser)	rs569643246	0.00001
NM_000030.3(AGXT):c.1151T>C (p.Leu384Pro)	rs180177165	0.00001
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs)	rs180177166	0.00001
NM_000030.3(AGXT):c.122G>T (p.Gly41Val)	rs180177168	0.00001
NM_000030.3(AGXT):c.215A>T (p.Asn72Ile)	rs113879010	0.00001
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu)	rs180177184	0.00001
NM_000030.3(AGXT):c.2T>C (p.Met1Thr)	rs138584408	0.00001
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)	rs180177195	0.00001
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln)	rs180177203	0.00001
NM_000030.3(AGXT):c.757T>C (p.Cys253Arg)	rs180177264	0.00001
NM_000030.3(AGXT):c.777-1G>C	rs180177267	0.00001
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)	rs781862879	0.00001
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)	rs118204428	0.00001
NM_000035.4(ALDOB):c.331C>T (p.Gln111Ter)	rs528914024	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.1642T>G (p.Leu548Val)	rs1060503373	0.00001
NM_000038.6(APC):c.1691G>A (p.Arg564Gln)	rs747418061	0.00001
NM_000038.6(APC):c.1966C>G (p.Leu656Val)	rs577466163	0.00001
NM_000038.6(APC):c.2527A>G (p.Ser843Gly)	rs536223189	0.00001
NM_000038.6(APC):c.2677G>A (p.Glu893Lys)	rs199740875	0.00001
NM_000038.6(APC):c.5038C>T (p.Gln1680Ter)	rs754122018	0.00001
NM_000038.6(APC):c.5162G>A (p.Gly1721Asp)	rs876660114	0.00001
NM_000038.6(APC):c.5290C>G (p.Gln1764Glu)	rs529543591	0.00001
NM_000038.6(APC):c.6249A>G (p.Ile2083Met)	rs374625279	0.00001
NM_000038.6(APC):c.6508C>T (p.Pro2170Ser)	rs1229142303	0.00001
NM_000038.6(APC):c.8276G>A (p.Arg2759His)	rs538289470	0.00001
NM_000038.6(APC):c.8524T>G (p.Ser2842Ala)	rs587780610	0.00001
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg)	rs753829097	0.00001
NM_000045.4(ARG1):c.370G>T (p.Asp124Tyr)	rs1773910245	0.00001
NM_000045.4(ARG1):c.425G>A (p.Gly142Glu)	rs767219084	0.00001
NM_000045.4(ARG1):c.57+1G>A	rs587776539	0.00001
NM_000045.4(ARG1):c.703G>A (p.Gly235Arg)	rs104893948	0.00001
NM_000046.5(ARSB):c.1336+1G>A	rs376233975	0.00001
NM_000046.5(ARSB):c.1340G>C (p.Cys447Ser)	rs1465993279	0.00001
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys)	rs555785323	0.00001
NM_000046.5(ARSB):c.1366C>T (p.Gln456Ter)	rs200188234	0.00001
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp)	rs1064793027	0.00001
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg)	rs397514441	0.00001
NM_000046.5(ARSB):c.236G>A (p.Gly79Glu)	rs1271212818	0.00001
NM_000046.5(ARSB):c.312G>C (p.Gln104His)	rs1478202079	0.00001
NM_000046.5(ARSB):c.328C>T (p.Gln110Ter)	rs1554088099	0.00001
NM_000046.5(ARSB):c.349T>C (p.Cys117Arg)	rs118203939	0.00001
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg)	rs746206847	0.00001
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln)	rs1196325597	0.00001
NM_000046.5(ARSB):c.499G>A (p.Gly167Arg)	rs1554087999	0.00001
NM_000046.5(ARSB):c.691-1G>A	rs778868348	0.00001
NM_000046.5(ARSB):c.900T>A (p.Asp300Glu)	rs1280123243	0.00001
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln)	rs727503809	0.00001
NM_000048.4(ASL):c.1128C>A (p.Tyr376Ter)	rs764546937	0.00001
NM_000048.4(ASL):c.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.175G>A (p.Glu59Lys)	rs869312985	0.00001
NM_000048.4(ASL):c.260A>G (p.Asp87Gly)	rs752100894	0.00001
NM_000048.4(ASL):c.280C>T (p.Arg94Cys)	rs374304304	0.00001
NM_000048.4(ASL):c.283C>T (p.Arg95Cys)	rs28940585	0.00001
NM_000048.4(ASL):c.331C>T (p.Arg111Trp)	rs138310841	0.00001
NM_000048.4(ASL):c.332G>A (p.Arg111Gln)	rs561367199	0.00001
NM_000048.4(ASL):c.349-1G>A	rs1395478201	0.00001
NM_000048.4(ASL):c.437G>A (p.Arg146Gln)	rs796051931	0.00001
NM_000048.4(ASL):c.446+2T>C	rs1268519003	0.00001
NM_000048.4(ASL):c.467C>T (p.Pro156Leu)	rs769017508	0.00001
NM_000048.4(ASL):c.545G>A (p.Arg182Gln)	rs751590073	0.00001
NM_000048.4(ASL):c.566A>G (p.Glu189Gly)	rs756363516	0.00001
NM_000048.4(ASL):c.602+1G>A	rs398123127	0.00001
NM_000048.4(ASL):c.707G>A (p.Arg236Gln)	rs764602422	0.00001
NM_000048.4(ASL):c.91G>A (p.Asp31Asn)	rs754995756	0.00001
NM_000048.4(ASL):c.978G>C (p.Gln326His)	rs764356037	0.00001
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys)	rs779440632	0.00001
NM_000049.4(ASPA):c.368G>A (p.Gly123Glu)	rs1057521115	0.00001
NM_000049.4(ASPA):c.47T>C (p.Ile16Thr)	rs769653717	0.00001
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys)	rs937670540	0.00001
NM_000049.4(ASPA):c.503G>A (p.Arg168His)	rs770706390	0.00001
NM_000049.4(ASPA):c.539G>T (p.Gly180Val)	rs1014551540	0.00001
NM_000049.4(ASPA):c.541C>A (p.Pro181Thr)	rs786204572	0.00001
NM_000049.4(ASPA):c.634+1G>T	rs753871454	0.00001
NM_000049.4(ASPA):c.770C>G (p.Pro257Arg)	rs377217076	0.00001
NM_000049.4(ASPA):c.859G>A (p.Ala287Thr)	rs774323189	0.00001
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter)	rs1555069617	0.00001
NM_000051.4(ATM):c.1208C>A (p.Ser403Ter)	rs747563556	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.1695A>G (p.Glu565=)	rs780932013	0.00001
NM_000051.4(ATM):c.1702A>G (p.Arg568Gly)	rs876659425	0.00001
NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys)	rs587780614	0.00001
NM_000051.4(ATM):c.1898+2T>G	rs587782124	0.00001
NM_000051.4(ATM):c.1960C>A (p.Gln654Lys)	rs528165789	0.00001
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys)	rs765965513	0.00001
NM_000051.4(ATM):c.2117C>G (p.Ser706Ter)	rs779004090	0.00001
NM_000051.4(ATM):c.2251-10T>G	rs730881346	0.00001
NM_000051.4(ATM):c.3078-1G>A	rs750663117	0.00001
NM_000051.4(ATM):c.3154-2A>G	rs730881357	0.00001
NM_000051.4(ATM):c.3257G>A (p.Arg1086His)	rs769857066	0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)	rs587776551	0.00001
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)	rs730881389	0.00001
NM_000051.4(ATM):c.4437-1G>C	rs759520465	0.00001
NM_000051.4(ATM):c.4631A>G (p.Tyr1544Cys)	rs779718362	0.00001
NM_000051.4(ATM):c.4910-5T>C	rs1309478967	0.00001
NM_000051.4(ATM):c.5005+1G>T	rs1057517427	0.00001
NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro)	rs747800057	0.00001
NM_000051.4(ATM):c.5203dup (p.Thr1735fs)	rs878853518	0.00001
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile)	rs587779844	0.00001
NM_000051.4(ATM):c.5319+2T>C	rs1555105842	0.00001
NM_000051.4(ATM):c.5352_5355del (p.Pro1785fs)	rs1214541502	0.00001
NM_000051.4(ATM):c.5470C>T (p.Leu1824Phe)	rs764784077	0.00001
NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter)	rs876658740	0.00001
NM_000051.4(ATM):c.590G>A (p.Gly197Glu)	rs753806542	0.00001
NM_000051.4(ATM):c.6095+1G>A	rs587781584	0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)	rs139770721	0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)	rs202206540	0.00001
NM_000051.4(ATM):c.6172_6176del (p.Ser2058fs)	rs1348587218	0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)	rs564652222	0.00001
NM_000051.4(ATM):c.712A>G (p.Ile238Val)	rs754275014	0.00001
NM_000051.4(ATM):c.7135C>G (p.Leu2379Val)	rs778888033	0.00001
NM_000051.4(ATM):c.7328G>A (p.Arg2443Gln)	rs587782310	0.00001
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr)	rs774281788	0.00001
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser)	rs531617441	0.00001
NM_000051.4(ATM):c.7629+2T>C	rs786203059	0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)	rs371638537	0.00001
NM_000051.4(ATM):c.829G>T (p.Glu277Ter)	rs876660933	0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)	rs587779872	0.00001
NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter)	rs587781597	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.8988-1G>C	rs730881386	0.00001
NM_000051.4(ATM):c.9023G>A (p.Arg3008His)	rs587781894	0.00001
NM_000053.4(ATP7B):c.104_105insT (p.Lys35fs)	rs1316032472	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.1772G>A (p.Gly591Asp)	rs797045402	0.00001
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp)	rs374172791	0.00001
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His)	rs72552285	0.00001
NM_000053.4(ATP7B):c.1946+6T>C	rs751287778	0.00001
NM_000053.4(ATP7B):c.2108G>A (p.Cys703Tyr)	rs767218895	0.00001
NM_000053.4(ATP7B):c.2122-8T>G	rs193922102	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.2292C>T (p.Phe764=)	rs372979339	0.00001
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn)	rs28942075	0.00001
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly)	rs1555291147	0.00001
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met)	rs121907997	0.00001
NM_000053.4(ATP7B):c.2335T>G (p.Trp779Gly)	rs751798708	0.00001
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe)	rs751710854	0.00001
NM_000053.4(ATP7B):c.2407G>A (p.Ala803Thr)	rs1409618843	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.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.2762G>A (p.Ser921Asn)	rs1230241288	0.00001
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser)	rs28942076	0.00001
NM_000053.4(ATP7B):c.2924C>A (p.Ser975Tyr)	rs778163447	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.3060+5G>T	rs1353373400	0.00001
NM_000053.4(ATP7B):c.3107dup (p.Arg1038fs)	rs886043423	0.00001
NM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro)	rs1412025509	0.00001
NM_000053.4(ATP7B):c.3140A>T (p.Asp1047Val)	rs1395504465	0.00001
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val)	rs587783309	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.331C>T (p.Gln111Ter)	rs774221179	0.00001
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala)	rs1387431334	0.00001
NM_000053.4(ATP7B):c.3556+1G>A	rs184388696	0.00001
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)	rs786204547	0.00001
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln)	rs767464491	0.00001
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe)	rs769484789	0.00001
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys)	rs776300396	0.00001
NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro)	rs377144951	0.00001
NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter)	rs1033235740	0.00001
NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser)	rs587783317	0.00001
NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp)	rs779494870	0.00001
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter)	rs193922110	0.00001
NM_000053.4(ATP7B):c.4150dup (p.Tyr1384fs)	rs1555282316	0.00001
NM_000053.4(ATP7B):c.4309A>T (p.Lys1437Ter)	rs768833241	0.00001
NM_000053.4(ATP7B):c.4339dup (p.Asp1447fs)	rs1345677703	0.00001
NM_000053.4(ATP7B):c.44del (p.Ser15fs)	rs1192728612	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_000057.4(BLM):c.1154del (p.Thr385fs)	rs1409782833	0.00001
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter)	rs754203833	0.00001
NM_000057.4(BLM):c.1490A>G (p.Gln497Arg)	rs368547042	0.00001
NM_000057.4(BLM):c.1968dup (p.Lys657fs)	rs772785079	0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)	rs786204471	0.00001
NM_000057.4(BLM):c.2407T>C (p.Trp803Arg)	rs148394770	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.3667dup (p.Thr1223fs)	rs1057517154	0.00001
NM_000057.4(BLM):c.3875-2A>G	rs150421256	0.00001
NM_000059.4(BRCA2):c.4316C>A (p.Ala1439Asp)	rs80358667	0.00001
NM_000059.4(BRCA2):c.7633G>A (p.Val2545Ile)	rs80358990	0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)	rs80359035	0.00001
NM_000059.4(BRCA2):c.8798G>C (p.Arg2933Thr)	rs553440338	0.00001
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu)	rs80359159	0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)	rs28897759	0.00001
NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs)	rs730881619	0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)	rs142004418	0.00001
NM_000071.3(CBS):c.1007G>A (p.Arg336His)	rs760417941	0.00001
NM_000071.3(CBS):c.1109G>A (p.Cys370Tyr)	rs757920190	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.284T>C (p.Ile95Thr)	rs1347662650	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_000080.4(CHRNE):c.-96C>T	rs748144899	0.00001
NM_000080.4(CHRNE):c.1164del (p.Lys388fs)	rs1222065184	0.00001
NM_000080.4(CHRNE):c.1220-1G>A	rs373710822	0.00001
NM_000080.4(CHRNE):c.1220-2A>G	rs1309292778	0.00001
NM_000080.4(CHRNE):c.1341G>A (p.Trp447Ter)	rs918839874	0.00001
NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro)	rs28929768	0.00001
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg)	rs372635387	0.00001
NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu)	rs121909514	0.00001
NM_000080.4(CHRNE):c.934_936del (p.Met312del)	rs1555546465	0.00001
NM_000081.4(LYST):c.10127A>G (p.Asn3376Ser)	rs80338669	0.00001
NM_000081.4(LYST):c.10883dup (p.Tyr3628Ter)	rs1238562877	0.00001
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter)	rs80338652	0.00001
NM_000081.4(LYST):c.5956C>T (p.Arg1986Ter)	rs1188244229	0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)	rs80356702	0.00001
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser)	rs777625241	0.00001
NM_000098.3(CPT2):c.1459G>A (p.Glu487Lys)	rs778743524	0.00001
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys)	rs74315296	0.00001
NM_000098.3(CPT2):c.1816_1817del (p.Val606fs)	rs908749525	0.00001
NM_000098.3(CPT2):c.28_29insAGCAAG (p.Trp10Ter)	rs1374482155	0.00001
NM_000098.3(CPT2):c.341-2A>G	rs752468216	0.00001
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln)	rs515726177	0.00001
NM_000098.3(CPT2):c.481C>T (p.Arg161Trp)	rs756839691	0.00001
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys)	rs28936674	0.00001
NM_000102.4(CYP17A1):c.1073G>A (p.Arg358Gln)	rs104894139	0.00001
NM_000102.4(CYP17A1):c.1085G>A (p.Arg362His)	rs752811843	0.00001
NM_000102.4(CYP17A1):c.1263G>A (p.Ala421=)	rs769188557	0.00001
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu)	rs121964988	0.00001
NM_000108.5(DLD):c.803_804del (p.Gln268fs)	rs764611160	0.00001
NM_000108.5(DLD):c.946C>T (p.Arg316Ter)	rs748682601	0.00001
NM_000110.4(DPYD):c.321+1G>A	rs746368304	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_000112.4(SLC26A2):c.145del (p.Arg49fs)	rs1265764649	0.00001
NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg)	rs1554095397	0.00001
NM_000126.4(ETFA):c.2T>C (p.Met1Thr)	rs727503918	0.00001
NM_000126.4(ETFA):c.470T>G (p.Val157Gly)	rs119458969	0.00001
NM_000126.4(ETFA):c.625del (p.Arg209fs)	rs1209473816	0.00001
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)	rs769976586	0.00001
NM_000132.4(F8):c.1569G>T (p.Leu523=)	rs782733685	0.00001
NM_000132.4(F8):c.6658G>C (p.Ala2220Pro)	rs782548763	0.00001
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter)	rs1280130060	0.00001
NM_000135.4(FANCA):c.1226-2A>G	rs773906241	0.00001
NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter)	rs1266348463	0.00001
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer)	rs757504102	0.00001
NM_000135.4(FANCA):c.1776+1G>A	rs756140957	0.00001
NM_000135.4(FANCA):c.189+1G>T	rs891323617	0.00001
NM_000135.4(FANCA):c.2009G>A (p.Arg670His)	rs537923341	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.2606A>C (p.Gln869Pro)	rs780825099	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.3164G>A (p.Arg1055Gln)	rs1429943036	0.00001
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs)	rs1374769712	0.00001
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys)	rs745665658	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.580C>T (p.Gln194Ter)	rs1384166265	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.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.991del (p.Ser331fs)	rs746236214	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_000136.3(FANCC):c.996+1G>T	rs370510954	0.00001
NM_000137.4(FAH):c.1025C>T (p.Pro342Leu)	rs779040832	0.00001
NM_000137.4(FAH):c.438del (p.Asn146fs)	rs779642226	0.00001
NM_000137.4(FAH):c.520C>T (p.Arg174Ter)	rs781496816	0.00001
NM_000137.4(FAH):c.548_553+20del	rs768180953	0.00001
NM_000137.4(FAH):c.742G>A (p.Gly248Arg)	rs774861939	0.00001
NM_000137.4(FAH):c.81+2T>A	rs772895065	0.00001
NM_000137.4(FAH):c.836A>G (p.Gln279Arg)	rs121965078	0.00001
NM_000137.4(FAH):c.963C>A (p.Tyr321Ter)	rs886044640	0.00001
NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn)	rs794728204	0.00001
NM_000138.5(FBN1):c.6315G>A (p.Glu2105=)	rs1478813051	0.00001
NM_000138.5(FBN1):c.994C>T (p.Arg332Cys)	rs1161109360	0.00001
NM_000143.4(FH):c.1048C>T (p.Arg350Trp)	rs755436052	0.00001
NM_000143.4(FH):c.1189G>A (p.Gly397Arg)	rs863224007	0.00001
NM_000143.4(FH):c.1204C>T (p.His402Tyr)	rs760360724	0.00001
NM_000143.4(FH):c.194A>G (p.Asp65Gly)	rs145116688	0.00001
NM_000143.4(FH):c.697C>T (p.Arg233Cys)	rs587781682	0.00001
NM_000143.4(FH):c.923C>G (p.Ala308Gly)	rs1057524385	0.00001
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr)	rs104894568	0.00001
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter)	rs80356485	0.00001
NM_000152.5(GAA):c.-32-3C>A	rs1055945806	0.00001
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)	rs755253527	0.00001
NM_000152.5(GAA):c.1115A>T (p.His372Leu)	rs1057516520	0.00001
NM_000152.5(GAA):c.1211A>G (p.Asp404Gly)	rs886042961	0.00001
NM_000152.5(GAA):c.1327-2A>G	rs1410829147	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.1441del (p.Trp481fs)	rs1403500889	0.00001
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg)	rs770590394	0.00001
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn)	rs748047271	0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr)	rs786204720	0.00001
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)	rs121907937	0.00001
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser)	rs773576381	0.00001
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr)	rs753505203	0.00001
NM_000152.5(GAA):c.1799G>A (p.Arg600His)	rs377544304	0.00001
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu)	rs374470794	0.00001
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)	rs1393386120	0.00001
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter)	rs786204727	0.00001
NM_000152.5(GAA):c.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.1958C>A (p.Thr653Asn)	rs763456921	0.00001
NM_000152.5(GAA):c.1962_1964del (p.Glu656del)	rs1030961946	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.2482-2A>G	rs756671283	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.2846T>A (p.Val949Asp)	rs1245412108	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.671G>A (p.Arg224Gln)	rs200210219	0.00001
NM_000152.5(GAA):c.692+5G>T	rs763027848	0.00001
NM_000152.5(GAA):c.796C>T (p.Pro266Ser)	rs1555599667	0.00001
NM_000152.5(GAA):c.871C>T (p.Leu291Phe)	rs773417785	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.583-6T>A	rs398123176	0.00001
NM_000153.4(GALC):c.673G>A (p.Ala225Thr)	rs1436074042	0.00001
NM_000153.4(GALC):c.680A>G (p.Asp227Gly)	rs1886495923	0.00001
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys)	rs1363497653	0.00001
NM_000154.2(GALK1):c.611+1G>T	rs982043960	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.1014C>G (p.Gly338=)	rs111033811	0.00001
NM_000155.4(GALT):c.1138T>C (p.Ter380Arg)	rs111033824	0.00001
NM_000155.4(GALT):c.199C>T (p.Arg67Cys)	rs111033658	0.00001
NM_000155.4(GALT):c.290A>G (p.Asn97Ser)	rs111033669	0.00001
NM_000155.4(GALT):c.307C>T (p.Gln103Ter)	rs1225091358	0.00001
NM_000155.4(GALT):c.367C>G (p.Arg123Gly)	rs111033674	0.00001
NM_000155.4(GALT):c.368G>A (p.Arg123Gln)	rs111033675	0.00001
NM_000155.4(GALT):c.377+2dup	rs763662108	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.601C>T (p.Arg201Cys)	rs111033739	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.692G>A (p.Arg231His)	rs111033754	0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)	rs368166217	0.00001
NM_000155.4(GALT):c.775C>T (p.Arg259Trp)	rs786204763	0.00001
NM_000155.4(GALT):c.814C>T (p.Arg272Cys)	rs111033766	0.00001
NM_000155.4(GALT):c.821-7A>G	rs767337193	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.982C>T (p.Arg328Cys)	rs144993986	0.00001
NM_000155.4(GALT):c.983G>A (p.Arg328His)	rs111033802	0.00001
NM_000155.4(GALT):c.998G>A (p.Arg333Gln)	rs111033808	0.00001
NM_000156.6(GAMT):c.224C>T (p.Ala75Val)	rs1441030187	0.00001
NM_000156.6(GAMT):c.328-1G>A	rs756772965	0.00001
NM_000156.6(GAMT):c.407C>T (p.Thr136Met)	rs374724533	0.00001
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr)	rs121909272	0.00001
NM_000157.4(GBA1):c.1174C>T (p.Arg392Trp)	rs121908308	0.00001
NM_000158.4(GBE1):c.1239del (p.Asp413fs)	rs758504480	0.00001
NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter)	rs781198373	0.00001
NM_000158.4(GBE1):c.1604A>G (p.Tyr535Cys)	rs886058900	0.00001
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp)	rs1703086906	0.00001
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)	rs552094593	0.00001
NM_000158.4(GBE1):c.1803+2T>C	rs539203557	0.00001
NM_000158.4(GBE1):c.1823_1824del (p.His608fs)	rs1175447973	0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg)	rs137852891	0.00001
NM_000158.4(GBE1):c.1934+2T>C	rs752625236	0.00001
NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn)	rs1209123501	0.00001
NM_000158.4(GBE1):c.216del (p.Tyr73fs)	rs2107168870	0.00001
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu)	rs137852887	0.00001
NM_000158.4(GBE1):c.895G>T (p.Gly299Ter)	rs779475367	0.00001
NM_000158.4(GBE1):c.993-1G>T	rs763016962	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.1189G>A (p.Glu397Lys)	rs1555751336	0.00001
NM_000159.4(GCDH):c.1199dup (p.Ile401fs)	rs1970722328	0.00001
NM_000159.4(GCDH):c.1213dup (p.Met405fs)	rs1377352983	0.00001
NM_000159.4(GCDH):c.1228G>A (p.Val410Met)	rs760155287	0.00001
NM_000159.4(GCDH):c.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.832C>T (p.Pro278Ser)	rs751742575	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.880C>T (p.Arg294Trp)	rs1864390545	0.00001
NM_000159.4(GCDH):c.901G>A (p.Val301Met)	rs751186776	0.00001
NM_000159.4(GCDH):c.910G>A (p.Ala304Thr)	rs373203481	0.00001
NM_000159.4(GCDH):c.914C>T (p.Ser305Leu)	rs1260580183	0.00001
NM_000159.4(GCDH):c.926T>G (p.Leu309Trp)	rs1247712895	0.00001
NM_000159.4(GCDH):c.997C>T (p.Gln333Ter)	rs794726972	0.00001
NM_000170.3(GLDC):c.1078G>C (p.Val360Leu)	rs373482451	0.00001
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)	rs587779227	0.00001
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter)	rs1243779049	0.00001
NM_000182.5(HADHA):c.1432del (p.Ala478fs)	rs1303177735	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_000183.3(HADHB):c.583C>T (p.Arg195Ter)	rs552292698	0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala)	rs460184	0.00001
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)	rs770225915	0.00001
NM_000191.3(HMGCL):c.494G>A (p.Arg165Gln)	rs199587895	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.704_705dup (p.Asp236fs)	rs1226874636	0.00001
NM_000195.5(HPS1):c.1744-2A>C	rs281865088	0.00001
NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter)	rs886077189	0.00001
NM_000195.5(HPS1):c.1858-1G>A	rs758797992	0.00001
NM_000195.5(HPS1):c.398+5G>A	rs281865077	0.00001
NM_000195.5(HPS1):c.814C>T (p.Gln272Ter)	rs1846158787	0.00001
NM_000195.5(HPS1):c.987+1G>A	rs913991716	0.00001
NM_000195.5(HPS1):c.988-1G>T	rs764927038	0.00001
NM_000199.5(SGSH):c.1093C>T (p.Gln365Ter)	rs1459579613	0.00001
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)	rs104894640	0.00001
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys)	rs772311757	0.00001
NM_000199.5(SGSH):c.1135del (p.Val379fs)	rs777956287	0.00001
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser)	rs1555620214	0.00001
NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter)	rs1323958195	0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)	rs104894641	0.00001
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr)	rs1057521146	0.00001
NM_000199.5(SGSH):c.221G>A (p.Arg74His)	rs778336949	0.00001
NM_000199.5(SGSH):c.267C>A (p.Tyr89Ter)	rs1479456289	0.00001
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp)	rs1479831530	0.00001
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln)	rs104894638	0.00001
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys)	rs529855742	0.00001
NM_000199.5(SGSH):c.545G>A (p.Arg182His)	rs372911015	0.00001
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg)	rs753666460	0.00001
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter)	rs886041370	0.00001
NM_000199.5(SGSH):c.812C>T (p.Thr271Met)	rs746776254	0.00001
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu)	rs745884647	0.00001
NM_000216.4(ANOS1):c.1536G>A (p.Lys512=)	rs1449749900	0.00001
NM_000218.3(KCNQ1):c.386+16231G>A	rs1490391959	0.00001
NM_000218.3(KCNQ1):c.683+5G>A	rs397508122	0.00001
NM_000222.3(KIT):c.406T>C (p.Cys136Arg)	rs1720223149	0.00001
NM_000231.3(SGCG):c.-1+5G>A	rs1394135402	0.00001
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro)	rs781760379	0.00001
NM_000231.3(SGCG):c.342dup (p.Ala115fs)	rs1262459682	0.00001
NM_000231.3(SGCG):c.559del (p.Asp187fs)	rs1484553312	0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)	rs547818652	0.00001
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)	rs104894422	0.00001
NM_000232.5(SGCB):c.265G>A (p.Val89Met)	rs762652676	0.00001
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)	rs555514820	0.00001
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg)	rs28936383	0.00001
NM_000232.5(SGCB):c.499G>A (p.Gly167Ser)	rs779516489	0.00001
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro)	rs751427686	0.00001
NM_000232.5(SGCB):c.601C>T (p.Gln201Ter)	rs773554421	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_000238.4(KCNH2):c.1750G>A (p.Gly584Ser)	rs199473428	0.00001
NM_000243.3(MEFV):c.443A>T (p.Glu148Val)	rs104895076	0.00001
NM_000249.4(MLH1):c.-11C>T	rs776898290	0.00001
NM_000249.4(MLH1):c.1007G>A (p.Gly336Asp)	rs587781750	0.00001
NM_000249.4(MLH1):c.1103C>T (p.Ser368Leu)	rs201673334	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.1359G>C (p.Lys453Asn)	rs756099600	0.00001
NM_000249.4(MLH1):c.1490G>A (p.Arg497Gln)	rs754554026	0.00001
NM_000249.4(MLH1):c.1637A>G (p.Lys546Arg)	rs587779954	0.00001
NM_000249.4(MLH1):c.1775G>C (p.Ser592Thr)	rs587782621	0.00001
NM_000249.4(MLH1):c.1834G>A (p.Val612Ile)	rs587779956	0.00001
NM_000249.4(MLH1):c.1850A>C (p.Lys617Thr)	rs780199021	0.00001
NM_000249.4(MLH1):c.1876T>C (p.Phe626Leu)	rs377241633	0.00001
NM_000249.4(MLH1):c.2060G>A (p.Arg687Gln)	rs587781310	0.00001
NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys)	rs587778986	0.00001
NM_000249.4(MLH1):c.221A>T (p.Asp74Val)	rs751894165	0.00001
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)	rs587778998	0.00001
NM_000249.4(MLH1):c.306+4A>G	rs267607733	0.00001
NM_000249.4(MLH1):c.346A>G (p.Thr116Ala)	rs750353040	0.00001
NM_000249.4(MLH1):c.44T>C (p.Val15Ala)	rs864622396	0.00001
NM_000249.4(MLH1):c.452C>T (p.Thr151Met)	rs776969475	0.00001
NM_000249.4(MLH1):c.563C>T (p.Ala188Val)	rs777971431	0.00001
NM_000249.4(MLH1):c.595G>C (p.Glu199Gln)	rs63749887	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_000249.4(MLH1):c.925C>T (p.Pro309Ser)	rs267607808	0.00001
NM_000251.3(MSH2):c.1157A>G (p.Asp386Gly)	rs1203515094	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.1361T>C (p.Ile454Thr)	rs1060502025	0.00001
NM_000251.3(MSH2):c.1418C>T (p.Ser473Leu)	rs63751403	0.00001
NM_000251.3(MSH2):c.1462T>G (p.Leu488Val)	rs587781314	0.00001
NM_000251.3(MSH2):c.1571G>A (p.Arg524His)	rs63751207	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.1907C>T (p.Ala636Val)	rs63750279	0.00001
NM_000251.3(MSH2):c.1927G>A (p.Glu643Lys)	rs374840361	0.00001
NM_000251.3(MSH2):c.1943T>A (p.Ile648Asn)	rs763100088	0.00001
NM_000251.3(MSH2):c.2038C>G (p.Arg680Gly)	rs63749932	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.2131C>T (p.Arg711Ter)	rs63750636	0.00001
NM_000251.3(MSH2):c.2437A>G (p.Met813Val)	rs63749841	0.00001
NM_000251.3(MSH2):c.2789dup (p.Val932fs)	rs786202481	0.00001
NM_000251.3(MSH2):c.376G>A (p.Gly126Ser)	rs767371843	0.00001
NM_000251.3(MSH2):c.383T>G (p.Leu128Arg)	rs730881768	0.00001
NM_000251.3(MSH2):c.38G>A (p.Ser13Asn)	rs63749907	0.00001
NM_000251.3(MSH2):c.446G>A (p.Gly149Asp)	rs587779162	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.755A>G (p.Gln252Arg)	rs370906735	0.00001
NM_000251.3(MSH2):c.759G>A (p.Met253Ile)	rs1060502021	0.00001
NM_000251.3(MSH2):c.775C>T (p.Pro259Ser)	rs587781294	0.00001
NM_000251.3(MSH2):c.855C>G (p.Asn285Lys)	rs759242666	0.00001
NM_000251.3(MSH2):c.877A>G (p.Thr293Ala)	rs1296650088	0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)	rs145213771	0.00001
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)	rs753392652	0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)	rs104893750	0.00001
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr)	rs1555636659	0.00001
NM_000271.5(NPC1):c.2848G>A (p.Val950Met)	rs120074135	0.00001
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys)	rs28942108	0.00001
NM_000271.5(NPC1):c.410C>T (p.Thr137Met)	rs372947142	0.00001
NM_000274.4(OAT):c.1112dup (p.Arg372fs)	rs750535638	0.00001
NM_000274.4(OAT):c.1307T>A (p.Ile436Asn)	rs386833598	0.00001
NM_000274.4(OAT):c.152G>A (p.Gly51Asp)	rs11553554	0.00001
NM_000274.4(OAT):c.162C>A (p.Asn54Lys)	rs121965048	0.00001
NM_000274.4(OAT):c.272G>A (p.Gly91Glu)	rs386833603	0.00001
NM_000274.4(OAT):c.416T>G (p.Met139Arg)	rs1043163922	0.00001
NM_000274.4(OAT):c.461G>A (p.Arg154His)	rs121965039	0.00001
NM_000274.4(OAT):c.542C>T (p.Thr181Met)	rs386833613	0.00001
NM_000274.4(OAT):c.677C>T (p.Ala226Val)	rs121965059	0.00001
NM_000274.4(OAT):c.698A>G (p.Gln233Arg)	rs386833615	0.00001
NM_000274.4(OAT):c.722C>T (p.Pro241Leu)	rs121965051	0.00001
NM_000274.4(OAT):c.748C>T (p.Arg250Ter)	rs386833617	0.00001
NM_000274.4(OAT):c.796C>T (p.Gln266Ter)	rs1951458291	0.00001
NM_000274.4(OAT):c.800C>T (p.Thr267Ile)	rs386833618	0.00001
NM_000274.4(OAT):c.952G>A (p.Glu318Lys)	rs386833621	0.00001
NM_000274.4(OAT):c.991C>T (p.Arg331Ter)	rs386833623	0.00001
NM_000275.3(OCA2):c.1045-9T>G	rs755604671	0.00001
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly)	rs147816326	0.00001
NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg)	rs779850564	0.00001
NM_000275.3(OCA2):c.1842+1G>T	rs387906240	0.00001
NM_000275.3(OCA2):c.1911_1914del (p.Phe638fs)	rs1297737900	0.00001
NM_000275.3(OCA2):c.2079G>A (p.Glu693=)	rs1374558186	0.00001
NM_000275.3(OCA2):c.2135del (p.Ile712fs)	rs775008954	0.00001
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr)	rs776814755	0.00001
NM_000275.3(OCA2):c.287A>C (p.Glu96Ala)	rs748287294	0.00001
NM_000275.3(OCA2):c.807+1G>T	rs763219039	0.00001
NM_000275.3(OCA2):c.868A>G (p.Arg290Gly)	rs769408559	0.00001
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser)	rs62516062	0.00001
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly)	rs1592947508	0.00001
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu)	rs184148104	0.00001
NM_000277.3(PAH):c.1136T>C (p.Val379Ala)	rs746203167	0.00001
NM_000277.3(PAH):c.1159T>C (p.Tyr387His)	rs62517194	0.00001
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile)	rs180819807	0.00001
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly)	rs62508736	0.00001
NM_000277.3(PAH):c.1199+17G>A	rs62508613	0.00001
NM_000277.3(PAH):c.1200-1G>A	rs62507322	0.00001
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys)	rs764974157	0.00001
NM_000277.3(PAH):c.1330C>T (p.Leu444Phe)	rs1402168594	0.00001
NM_000277.3(PAH):c.140C>T (p.Ala47Val)	rs118203925	0.00001
NM_000277.3(PAH):c.155T>C (p.Leu52Ser)	rs199475630	0.00001
NM_000277.3(PAH):c.168+1G>A	rs62514898	0.00001
NM_000277.3(PAH):c.212G>A (p.Arg71His)	rs62508695	0.00001
NM_000277.3(PAH):c.241A>C (p.Thr81Pro)	rs62509017	0.00001
NM_000277.3(PAH):c.275C>T (p.Thr92Ile)	rs62514903	0.00001
NM_000277.3(PAH):c.293T>C (p.Leu98Ser)	rs62517167	0.00001
NM_000277.3(PAH):c.320A>G (p.His107Arg)	rs542645236	0.00001
NM_000277.3(PAH):c.386A>G (p.Asp129Gly)	rs199475623	0.00001
NM_000277.3(PAH):c.441+4A>G	rs62508586	0.00001
NM_000277.3(PAH):c.442-5C>G	rs62514909	0.00001
NM_000277.3(PAH):c.442G>A (p.Gly148Ser)	rs80297647	0.00001
NM_000277.3(PAH):c.463C>T (p.Arg155Cys)	rs539743701	0.00001
NM_000277.3(PAH):c.490A>G (p.Ile164Val)	rs199475647	0.00001
NM_000277.3(PAH):c.505C>T (p.Arg169Cys)	rs281865440	0.00001
NM_000277.3(PAH):c.520A>G (p.Ile174Val)	rs199475632	0.00001
NM_000277.3(PAH):c.545A>G (p.Glu182Gly)	rs199475617	0.00001
NM_000277.3(PAH):c.558_559del (p.Trp187fs)	rs62517207	0.00001
NM_000277.3(PAH):c.561G>A (p.Trp187Ter)	rs62507336	0.00001
NM_000277.3(PAH):c.578C>T (p.Thr193Ile)	rs2499626242	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.665A>G (p.Asp222Gly)	rs62507319	0.00001
NM_000277.3(PAH):c.716G>T (p.Gly239Val)	rs62507283	0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)	rs62508588	0.00001
NM_000277.3(PAH):c.755G>A (p.Arg252Gln)	rs62644503	0.00001
NM_000277.3(PAH):c.776C>T (p.Ala259Val)	rs118203921	0.00001
NM_000277.3(PAH):c.789C>G (p.Phe263Leu)	rs62642944	0.00001
NM_000277.3(PAH):c.818C>T (p.Ser273Phe)	rs62514953	0.00001
NM_000277.3(PAH):c.827T>C (p.Met276Thr)	rs62508722	0.00001
NM_000277.3(PAH):c.835C>G (p.Pro279Ala)	rs1555204441	0.00001
NM_000277.3(PAH):c.842+3G>C	rs62507324	0.00001
NM_000277.3(PAH):c.889C>T (p.Arg297Cys)	rs62642945	0.00001
NM_000277.3(PAH):c.922C>T (p.Leu308Phe)	rs62642095	0.00001
NM_000277.3(PAH):c.926C>T (p.Ala309Val)	rs62642935	0.00001
NM_000277.3(PAH):c.932T>C (p.Leu311Pro)	rs62642936	0.00001
NM_000277.3(PAH):c.938C>T (p.Ala313Val)	rs62642914	0.00001
NM_000277.3(PAH):c.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.994G>A (p.Gly332Arg)	rs1187270724	0.00001
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys)	rs121964958	0.00001
NM_000282.4(PCCA):c.1196G>A (p.Arg399Gln)	rs1301904623	0.00001
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu)	rs1443858896	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.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.2056G>T (p.Glu686Ter)	rs1241896966	0.00001
NM_000282.4(PCCA):c.2119-9A>G	rs1389933015	0.00001
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln)	rs1387778734	0.00001
NM_000282.4(PCCA):c.231+1G>C	rs972937270	0.00001
NM_000282.4(PCCA):c.451G>T (p.Glu151Ter)	rs2053984648	0.00001
NM_000282.4(PCCA):c.600+1G>A	rs879253802	0.00001
NM_000282.4(PCCA):c.672dup (p.Gly225fs)	rs1164986524	0.00001
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys)	rs778530330	0.00001
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg)	rs1444049793	0.00001
NM_000284.4(PDHA1):c.292-23A>G	rs1057518702	0.00001
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter)	rs760739894	0.00001
NM_000286.3(PEX12):c.211C>T (p.Gln71Ter)	rs767447750	0.00001
NM_000286.3(PEX12):c.331C>T (p.Gln111Ter)	rs1056238409	0.00001
NM_000286.3(PEX12):c.680+1G>A	rs904972651	0.00001
NM_000286.3(PEX12):c.808del (p.Gln270fs)	rs2509168104	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.188+1G>C	rs267608254	0.00001
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)	rs187131358	0.00001
NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter)	rs41291965	0.00001
NM_000289.6(PFKM):c.1413-64A>G	rs1202417178	0.00001
NM_000289.6(PFKM):c.1500+1G>A	rs770066278	0.00001
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter)	rs199422211	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_000302.4(PLOD1):c.2032G>A (p.Gly678Arg)	rs121913551	0.00001
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg)	rs755402538	0.00001
NM_000303.3(PMM2):c.178G>T (p.Val60Leu)	rs759513930	0.00001
NM_000303.3(PMM2):c.253C>T (p.Gln85Ter)	rs1189623251	0.00001
NM_000303.3(PMM2):c.255G>A (p.Gln85=)	rs115344041	0.00001
NM_000303.3(PMM2):c.284del (p.Leu95fs)	rs757865122	0.00001
NM_000303.3(PMM2):c.391C>G (p.Pro131Ala)	rs1274547742	0.00001
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg)	rs767831048	0.00001
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr)	rs150577656	0.00001
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser)	rs760265100	0.00001
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter)	rs199562225	0.00001
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala)	rs398123309	0.00001
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser)	rs78290141	0.00001
NM_000303.3(PMM2):c.66+1G>T	rs937726878	0.00001
NM_000303.3(PMM2):c.67-1G>C	rs780588364	0.00001
NM_000310.4(PPT1):c.124+1G>A	rs386833628	0.00001
NM_000310.4(PPT1):c.325T>G (p.Tyr109Asp)	rs386833642	0.00001
NM_000310.4(PPT1):c.424C>T (p.Gln142Ter)	rs796052925	0.00001
NM_000310.4(PPT1):c.490C>T (p.Arg164Ter)	rs386833649	0.00001
NM_000310.4(PPT1):c.550G>A (p.Glu184Lys)	rs386833655	0.00001
NM_000310.4(PPT1):c.628-1G>T	rs386833659	0.00001
NM_000310.4(PPT1):c.665T>C (p.Leu222Pro)	rs386833661	0.00001
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu)	rs746043871	0.00001
NM_000310.4(PPT1):c.739T>C (p.Tyr247His)	rs386833665	0.00001
NM_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.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.367C>T (p.Pro123Ser)	rs141163668	0.00001
NM_000317.3(PTS):c.407A>T (p.Asp136Val)	rs1859972447	0.00001
NM_000318.3(PEX2):c.-17-2A>G	rs1289852067	0.00001
NM_000318.3(PEX2):c.157G>T (p.Glu53Ter)	rs1224562361	0.00001
NM_000318.3(PEX2):c.183G>A (p.Trp61Ter)	rs1806926984	0.00001
NM_000318.3(PEX2):c.624dup (p.Pro209fs)	rs1438831421	0.00001
NM_000321.3(RB1):c.-149G>T	rs1014776340	0.00001
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro)	rs62636298	0.00001
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)	rs62636300	0.00001
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)	rs61751282	0.00001
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)	rs61752883	0.00001
NM_000329.3(RPE65):c.683A>C (p.Gln228Pro)	rs886046510	0.00001
NM_000330.4(RS1):c.544C>T (p.Arg182Cys)	rs61753171	0.00001
NM_000338.3(SLC12A1):c.1316G>A (p.Arg439Gln)	rs780619649	0.00001
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His)	rs201799893	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_000353.3(TAT):c.889C>T (p.Arg297Ter)	rs758491525	0.00001
NM_000353.3(TAT):c.916C>T (p.Arg306Ter)	rs1316166172	0.00001
NM_000359.3(TGM1):c.1075G>A (p.Val359Met)	rs202037016	0.00001
NM_000359.3(TGM1):c.1417G>A (p.Gly473Ser)	rs904122716	0.00001
NM_000359.3(TGM1):c.1645+1G>T	rs774242987	0.00001
NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter)	rs397514522	0.00001
NM_000359.3(TGM1):c.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.1141C>A (p.Gln381Lys)	rs121917762	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.216C>T (p.Ala72=)	rs773288225	0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro)	rs121917763	0.00001
NM_000360.4(TH):c.641G>T (p.Arg214Met)	rs562363231	0.00001
NM_000360.4(TH):c.646G>A (p.Gly216Ser)	rs762304556	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.421G>A (p.Glu141Lys)	rs397515524	0.00001
NM_000370.3(TTPA):c.552G>A (p.Thr184=)	rs181109321	0.00001
NM_000372.5(TYR):c.1036+1G>A	rs763715899	0.00001
NM_000372.5(TYR):c.1037G>T (p.Gly346Val)	rs773970123	0.00001
NM_000372.5(TYR):c.1106A>G (p.Tyr369Cys)	rs149912348	0.00001
NM_000372.5(TYR):c.1200G>T (p.Trp400Cys)	rs145610977	0.00001
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser)	rs104894316	0.00001
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn)	rs104894318	0.00001
NM_000372.5(TYR):c.1346A>G (p.Tyr449Cys)	rs1944765423	0.00001
NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly)	rs61753187	0.00001
NM_000372.5(TYR):c.290G>T (p.Gly97Val)	rs1320376090	0.00001
NM_000372.5(TYR):c.607G>T (p.Glu203Ter)	rs778881311	0.00001
NM_000372.5(TYR):c.635G>A (p.Arg212Lys)	rs377209424	0.00001
NM_000372.5(TYR):c.863T>C (p.Leu288Ser)	rs1463109821	0.00001
NM_000372.5(TYR):c.880G>A (p.Glu294Lys)	rs757754120	0.00001
NM_000380.4(XPA):c.323G>A (p.Cys108Tyr)	rs104894131	0.00001
NM_000387.6(SLC25A20):c.533G>A (p.Arg178Gln)	rs754563147	0.00001
NM_000387.6(SLC25A20):c.536A>G (p.Asp179Gly)	rs1205051168	0.00001
NM_000387.6(SLC25A20):c.691G>C (p.Asp231His)	rs577331691	0.00001
NM_000387.6(SLC25A20):c.823C>T (p.Arg275Ter)	rs1330578621	0.00001
NM_000387.6(SLC25A20):c.824G>A (p.Arg275Gln)	rs376342597	0.00001
NM_000396.4(CTSK):c.121-1G>A	rs587663163	0.00001
NM_000396.4(CTSK):c.136C>T (p.Arg46Trp)	rs371277428	0.00001
NM_000396.4(CTSK):c.436G>C (p.Gly146Arg)	rs74315302	0.00001
NM_000396.4(CTSK):c.894G>A (p.Trp298Ter)	rs1237746431	0.00001
NM_000396.4(CTSK):c.926T>C (p.Leu309Pro)	rs29001685	0.00001
NM_000400.4(ERCC2):c.1996C>T (p.Arg666Trp)	rs752510317	0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)	rs76645461	0.00001
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys)	rs137852330	0.00001
NM_000404.4(GLB1):c.716C>T (p.Thr239Met)	rs746766232	0.00001
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val)	rs587777442	0.00001
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys)	rs766199971	0.00001
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr)	rs587777443	0.00001
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter)	rs1038744864	0.00001
NM_000414.4(HSD17B4):c.1768-1G>A	rs1359482508	0.00001
NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter)	rs771510541	0.00001
NM_000414.4(HSD17B4):c.58+1G>T	rs1260517680	0.00001
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys)	rs969485098	0.00001
NM_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_000436.4(OXCT1):c.1402C>T (p.Arg468Cys)	rs1327401976	0.00001
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)	rs786204474	0.00001
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr)	rs201562855	0.00001
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys)	rs147952620	0.00001
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter)	rs397516416	0.00001
NM_000441.2(SLC26A4):c.1615-2A>G	rs758823761	0.00001
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr)	rs111033257	0.00001
NM_000441.2(SLC26A4):c.1803G>A (p.Lys601=)	rs760352870	0.00001
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)	rs200455203	0.00001
NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu)	rs749013429	0.00001
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser)	rs1060499808	0.00001
NM_000441.2(SLC26A4):c.2319+1G>A	rs542079779	0.00001
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val)	rs760413427	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.84C>A (p.Ser28Arg)	rs539699299	0.00001
NM_000441.2(SLC26A4):c.918+2T>C	rs912147281	0.00001
NM_000465.4(BARD1):c.1205C>A (p.Ser402Ter)	rs796666047	0.00001
NM_000465.4(BARD1):c.1360C>G (p.Pro454Ala)	rs730881408	0.00001
NM_000465.4(BARD1):c.1718T>C (p.Ile573Thr)	rs587780022	0.00001
NM_000465.4(BARD1):c.173G>A (p.Arg58Lys)	rs774009993	0.00001
NM_000465.4(BARD1):c.1808C>A (p.Thr603Lys)	rs730881421	0.00001
NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter)	rs730881422	0.00001
NM_000465.4(BARD1):c.2002-2A>G	rs876658260	0.00001
NM_000465.4(BARD1):c.2129A>T (p.Asp710Val)	rs150121935	0.00001
NM_000465.4(BARD1):c.2216A>G (p.Tyr739Cys)	rs777013688	0.00001
NM_000465.4(BARD1):c.54C>G (p.Asn18Lys)	rs587780032	0.00001
NM_000466.3(PEX1):c.1099del (p.Gln367fs)	rs1403870448	0.00001
NM_000466.3(PEX1):c.1126del (p.Glu376fs)	rs751829426	0.00001
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val)	rs766656419	0.00001
NM_000478.6(ALPL):c.613G>A (p.Ala205Thr)	rs751455369	0.00001
NM_000478.6(ALPL):c.980T>G (p.Phe327Cys)	rs779832611	0.00001
NM_000478.6(ALPL):c.98C>T (p.Ala33Val)	rs121918005	0.00001
NM_000478.6(ALPL):c.997+2T>A	rs1057517391	0.00001
NM_000481.4(AMT):c.212A>C (p.His71Pro)	rs1053797603	0.00001
NM_000481.4(AMT):c.471+2T>C	rs386833684	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_000481.4(AMT):c.889C>T (p.Arg297Ter)	rs766422988	0.00001
NM_000487.6(ARSA):c.979+8C>T	rs746862304	0.00001
NM_000489.6(ATRX):c.3196A>G (p.Lys1066Glu)	rs1557138007	0.00001
NM_000492.4(CFTR):c.1721C>A (p.Pro574His)	rs121908758	0.00001
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)	rs201124247	0.00001
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly)	rs397508375	0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp)	rs386134230	0.00001
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe)	rs141033578	0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)	rs397508464	0.00001
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro)	rs139304906	0.00001
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)	rs397508609	0.00001
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter)	rs121909043	0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)	rs397508783	0.00001
NM_000497.4(CYP11B1):c.1145T>G (p.Leu382Arg)	rs1412048304	0.00001
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser)	rs104894069	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.596-2A>T	rs775946442	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_000520.6(HEXA):c.2T>C (p.Met1Thr)	rs786204721	0.00001
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg)	rs104894248	0.00001
NM_000527.5(LDLR):c.313+2T>C	rs793888517	0.00001
NM_000528.4(MAN2B1):c.1117A>T (p.Lys373Ter)	rs778554304	0.00001
NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val)	rs772853856	0.00001
NM_000528.4(MAN2B1):c.1309+1G>T	rs1057516745	0.00001
NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys)	rs368899357	0.00001
NM_000528.4(MAN2B1):c.1645-1G>A	rs938576591	0.00001
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter)	rs1057516927	0.00001
NM_000528.4(MAN2B1):c.222C>A (p.Asp74Glu)	rs746702002	0.00001
NM_000528.4(MAN2B1):c.2436+2T>C	rs398123457	0.00001
NM_000528.4(MAN2B1):c.2999T>C (p.Phe1000Ser)	rs864621991	0.00001
NM_000528.4(MAN2B1):c.422del (p.Asp141fs)	rs778399351	0.00001
NM_000528.4(MAN2B1):c.437-1G>A	rs200048536	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_000531.6(OTC):c.1061T>G (p.Phe354Cys)	rs72558495	0.00001
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val)	rs751538672	0.00001
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser)	rs1349202366	0.00001
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys)	rs769521436	0.00001
NM_000532.5(PCCB):c.1399-2_1399-1del	rs1317123493	0.00001
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)	rs764697873	0.00001
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro)	rs202247822	0.00001
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter)	rs753981900	0.00001
NM_000532.5(PCCB):c.371del (p.Gln124fs)	rs1481849460	0.00001
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp)	rs754752068	0.00001
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp)	rs879253815	0.00001
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)	rs121964960	0.00001
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser)	rs756414710	0.00001
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)	rs572246667	0.00001
NM_000535.7(PMS2):c.1144+1G>A	rs373885654	0.00001
NM_000535.7(PMS2):c.1240G>T (p.Asp414Tyr)	rs370752614	0.00001
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)	rs587778617	0.00001
NM_000535.7(PMS2):c.142G>A (p.Asp48Asn)	rs755665894	0.00001
NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter)	rs1064794577	0.00001
NM_000535.7(PMS2):c.164-1G>A	rs763308607	0.00001
NM_000535.7(PMS2):c.1929G>T (p.Gln643His)	rs786203379	0.00001
NM_000535.7(PMS2):c.2174+1G>A	rs267608172	0.00001
NM_000535.7(PMS2):c.2438G>T (p.Arg813Leu)	rs587782665	0.00001
NM_000535.7(PMS2):c.2445+1G>T	rs876661113	0.00001
NM_000535.7(PMS2):c.251-2A>T	rs587779340	0.00001
NM_000535.7(PMS2):c.506G>A (p.Arg169His)	rs730881917	0.00001
NM_000535.7(PMS2):c.538-1G>C	rs988423880	0.00001
NM_000535.7(PMS2):c.538-2A>G	rs758304323	0.00001
NM_000535.7(PMS2):c.713G>A (p.Ser238Asn)	rs1060503111	0.00001
NM_000535.7(PMS2):c.825A>G (p.Gln275=)	rs876659736	0.00001
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly)	rs587782852	0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)	rs118192130	0.00001
NM_000540.3(RYR1):c.7036G>A (p.Val2346Met)	rs193922799	0.00001
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)	rs118192122	0.00001
NM_000543.5(SMPD1):c.1341-1G>A	rs1057516854	0.00001
NM_000543.5(SMPD1):c.1343A>G (p.Tyr448Cys)	rs747143343	0.00001
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val)	rs748589919	0.00001
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg)	rs1554935669	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.502G>A (p.Gly168Arg)	rs1847910654	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.742G>A (p.Glu248Lys)	rs200763423	0.00001
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg)	rs750779804	0.00001
NM_000543.5(SMPD1):c.757G>C (p.Asp253His)	rs398123479	0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His)	rs121912664	0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	rs28934574	0.00001
NM_000548.5(TSC2):c.229G>A (p.Ala77Thr)	rs777459404	0.00001
NM_000548.5(TSC2):c.2882C>T (p.Pro961Leu)	rs370415754	0.00001
NM_000548.5(TSC2):c.3193A>C (p.Lys1065Gln)	rs751955670	0.00001
NM_000548.5(TSC2):c.3538A>G (p.Lys1180Glu)	rs751708490	0.00001
NM_000548.5(TSC2):c.4330C>G (p.Pro1444Ala)	rs1459518095	0.00001
NM_000548.5(TSC2):c.743A>G (p.Asn248Ser)	rs762104739	0.00001
NM_000551.4(VHL):c.548C>T (p.Ser183Leu)	rs5030823	0.00001
NM_000553.6(WRN):c.1898+2T>G	rs772319506	0.00001
NM_000553.6(WRN):c.3042G>A (p.Trp1014Ter)	rs371720457	0.00001
NM_000553.6(WRN):c.3175C>T (p.Gln1059Ter)	rs1319491415	0.00001
NM_000553.6(WRN):c.3384-1G>A	rs776963381	0.00001
NM_000553.6(WRN):c.3460-1G>A	rs1802899166	0.00001
NM_000553.6(WRN):c.3460-7T>A	rs1334937558	0.00001
NM_000553.6(WRN):c.3724C>T (p.Gln1242Ter)	rs762379051	0.00001
NM_000553.6(WRN):c.673C>T (p.Arg225Ter)	rs370324188	0.00001
NM_000553.6(WRN):c.88G>T (p.Glu30Ter)	rs1198210848	0.00001
NM_000642.3(AGL):c.100C>T (p.Arg34Ter)	rs781580050	0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)	rs763554006	0.00001
NM_000642.3(AGL):c.1735+1G>T	rs199922945	0.00001
NM_000642.3(AGL):c.2023C>T (p.Arg675Trp)	rs765749454	0.00001
NM_000642.3(AGL):c.22C>T (p.Arg8Ter)	rs1057516870	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.2929C>T (p.Arg977Ter)	rs531425980	0.00001
NM_000642.3(AGL):c.2989C>T (p.Gln997Ter)	rs1185515418	0.00001
NM_000642.3(AGL):c.3091C>T (p.Gln1031Ter)	rs539108137	0.00001
NM_000642.3(AGL):c.3259+1G>A	rs1394576194	0.00001
NM_000642.3(AGL):c.3350dup (p.Tyr1117Ter)	rs1432024176	0.00001
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter)	rs113994131	0.00001
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys)	rs775685508	0.00001
NM_000642.3(AGL):c.471del (p.Met157fs)	rs1650328268	0.00001
NM_000642.3(AGL):c.664+3A>G	rs370792293	0.00001
NM_000642.3(AGL):c.685C>T (p.Gln229Ter)	rs971749992	0.00001
NM_000642.3(AGL):c.907C>T (p.Gln303Ter)	rs145362161	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.1061G>A (p.Trp354Ter)	rs1214763792	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.14del (p.Ile5fs)	rs398123494	0.00001
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met)	rs398123503	0.00001
NM_000709.4(BCKDHA):c.647-1G>C	rs753216964	0.00001
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val)	rs369448982	0.00001
NM_000709.4(BCKDHA):c.745G>A (p.Gly249Ser)	rs137852874	0.00001
NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr)	rs199599175	0.00001
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp)	rs373713279	0.00001
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp)	rs137852873	0.00001
NM_000709.4(BCKDHA):c.835del (p.Tyr279fs)	rs755451300	0.00001
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg)	rs137852871	0.00001
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys)	rs398123515	0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)	rs121908099	0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)	rs200883871	0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)	rs121908098	0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)	rs560108684	0.00001
NM_000784.4(CYP27A1):c.256-1G>T	rs886556800	0.00001
NM_000784.4(CYP27A1):c.32G>A (p.Trp11Ter)	rs1398584213	0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)	rs72551312	0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)	rs587778796	0.00001
NM_000784.4(CYP27A1):c.547del (p.Asp183fs)	rs1339553782	0.00001
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg)	rs72551317	0.00001
NM_001005498.4(RHBDF2):c.1235G>A (p.Arg412Gln)	rs377416669	0.00001
NM_001005498.4(RHBDF2):c.1375C>G (p.Leu459Val)	rs147599098	0.00001
NM_001008216.2(GALE):c.449C>T (p.Thr150Met)	rs765353795	0.00001
NM_001018115.3(FANCD2):c.1370T>C (p.Leu457Pro)	rs1181436417	0.00001
NM_001018115.3(FANCD2):c.3299_3300del (p.Gln1100fs)	rs770686014	0.00001
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His)	rs121917786	0.00001
NM_001018115.3(FANCD2):c.491+1G>A	rs943009372	0.00001
NM_001018115.3(FANCD2):c.520C>T (p.Arg174Ter)	rs1449126896	0.00001
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met)	rs778289599	0.00001
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp)	rs121908159	0.00001
NM_001040716.2(PC):c.1663C>T (p.Arg555Ter)	rs766242199	0.00001
NM_001040716.2(PC):c.3409_3410del (p.Leu1137fs)	rs113994148	0.00001
NM_001040716.2(PC):c.806G>A (p.Arg269Gln)	rs1349343839	0.00001
NM_001042432.2(CLN3):c.1247A>G (p.Asp416Gly)	rs386833703	0.00001
NM_001042432.2(CLN3):c.214C>T (p.Gln72Ter)	rs386833709	0.00001
NM_001042432.2(CLN3):c.622dup (p.Ser208fs)	rs386833736	0.00001
NM_001042492.3(NF1):c.2257G>A (p.Ala753Thr)	rs758325102	0.00001
NM_001042492.3(NF1):c.3103A>G (p.Met1035Val)	rs771694969	0.00001
NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn)	rs876660093	0.00001
NM_001042492.3(NF1):c.964A>G (p.Ile322Val)	rs755007999	0.00001
NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro)	rs1060501335	0.00001
NM_001048174.2(MUTYH):c.1103-2A>G	rs587781628	0.00001
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter)	rs766420907	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.206G>A (p.Arg69Gln)	rs755653922	0.00001
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter)	rs748170941	0.00001
NM_001048174.2(MUTYH):c.299A>G (p.Tyr100Cys)	rs876660615	0.00001
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu)	rs777184451	0.00001
NM_001048174.2(MUTYH):c.421-12T>G	rs890418965	0.00001
NM_001048174.2(MUTYH):c.469C>T (p.Arg157Trp)	rs750592289	0.00001
NM_001048174.2(MUTYH):c.493-5A>G	rs758377868	0.00001
NM_001048174.2(MUTYH):c.559G>A (p.Val187Met)	rs776487884	0.00001
NM_001048174.2(MUTYH):c.563G>A (p.Gly188Glu)	rs768553551	0.00001
NM_001048174.2(MUTYH):c.604C>T (p.Gln202Ter)	rs1064796630	0.00001
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser)	rs1057517765	0.00001
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)	rs34126013	0.00001
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp)	rs769237459	0.00001
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu)	rs730881833	0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu)	rs374950566	0.00001
NM_001048174.2(MUTYH):c.835C>T (p.Arg279Trp)	rs759822330	0.00001
NM_001048174.2(MUTYH):c.887C>T (p.Ser296Leu)	rs558173961	0.00001
NM_001048174.2(MUTYH):c.992C>T (p.Pro331Leu)	rs1060501323	0.00001
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)	rs119462987	0.00001
NM_001080397.3(SLC45A1):c.526C>T (p.Arg176Trp)	rs781036625	0.00001
NM_001080476.3(GRXCR1):c.469G>T (p.Glu157Ter)	rs774844858	0.00001
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg)	rs186882839	0.00001
NM_001110556.2(FLNA):c.1349T>C (p.Met450Thr)	rs1360400826	0.00001
NM_001110556.2(FLNA):c.3886C>T (p.Arg1296Cys)	rs781816229	0.00001
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg)	rs797045044	0.00001
NM_001110792.2(MECP2):c.515C>G (p.Thr172Ser)	rs61748414	0.00001
NM_001111125.3(IQSEC2):c.3451+17C>T	rs1057522236	0.00001
NM_001113378.2(FANCI):c.158-2A>G	rs762128147	0.00001
NM_001113378.2(FANCI):c.1597C>T (p.Arg533Ter)	rs1347292940	0.00001
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter)	rs375656231	0.00001
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter)	rs748000458	0.00001
NM_001113378.2(FANCI):c.3006+3A>G	rs1294973649	0.00001
NM_001113378.2(FANCI):c.3058+1G>A	rs149464307	0.00001
NM_001126108.2(SLC12A3):c.533C>T (p.Ser178Leu)	rs772589653	0.00001
NM_001127649.3(PEX26):c.574C>T (p.Arg192Ter)	rs61752136	0.00001
NM_001128425.2(MUTYH):c.36+3A>T	rs759654665	0.00001
NM_001128425.2(MUTYH):c.36+4C>G	rs774530388	0.00001
NM_001130004.2(ACTN1):c.137G>A (p.Arg46Gln)	rs387907348	0.00001
NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys)	rs778673716	0.00001
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter)	rs1393804220	0.00001
NM_001135146.2(SLC39A8):c.965T>C (p.Ile322Thr)	rs755786784	0.00001
NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp)	rs397514526	0.00001
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter)	rs1471994744	0.00001
NM_001142800.2(EYS):c.174G>A (p.Trp58Ter)	rs1177052380	0.00001
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter)	rs930421180	0.00001
NM_001142800.2(EYS):c.4103dup (p.Ser1369fs)	rs1205803331	0.00001
NM_001142800.2(EYS):c.4651G>T (p.Glu1551Ter)	rs1305702728	0.00001
NM_001142800.2(EYS):c.4955C>G (p.Ser1652Ter)	rs909730457	0.00001
NM_001142800.2(EYS):c.5644+5G>A	rs794727412	0.00001
NM_001142800.2(EYS):c.6079-3_6079-2del	rs1491200209	0.00001
NM_001142800.2(EYS):c.6191+1G>A	rs1048032321	0.00001
NM_001142800.2(EYS):c.6192-1G>T	rs570020451	0.00001
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter)	rs797045089	0.00001
NM_001142800.2(EYS):c.6563T>C (p.Ile2188Thr)	rs1562190751	0.00001
NM_001142800.2(EYS):c.6571+1G>A	rs1193854376	0.00001
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter)	rs1060499783	0.00001
NM_001142800.2(EYS):c.8143C>T (p.Arg2715Ter)	rs1299355731	0.00001
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg)	rs373203896	0.00001
NM_001142800.2(EYS):c.8984T>A (p.Ile2995Asn)	rs1211856182	0.00001
NM_001142800.2(EYS):c.9059T>C (p.Ile3020Thr)	rs948998853	0.00001
NM_001142800.2(EYS):c.9061G>C (p.Ala3021Pro)	rs569561277	0.00001
NM_001163435.3(TBCK):c.381+1G>A	rs1762560983	0.00001
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter)	rs121908976	0.00001
NM_001164277.2(SLC37A4):c.381+2T>G	rs782645078	0.00001
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)	rs193302883	0.00001
NM_001164277.2(SLC37A4):c.458C>T (p.Pro153Leu)	rs193302890	0.00001
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu)	rs193302888	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.83G>A (p.Arg28His)	rs121908978	0.00001
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys)	rs193302880	0.00001
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly)	rs1255744452	0.00001
NM_001164508.2(NEB):c.21155A>G (p.Tyr7052Cys)	rs755165133	0.00001
NM_001164508.2(NEB):c.22906-6C>T	rs1449487575	0.00001
NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln)	rs749034995	0.00001
NM_001164508.2(NEB):c.6020T>C (p.Met2007Thr)	rs199862790	0.00001
NM_001164508.2(NEB):c.7228-1G>A	rs1057516996	0.00001
NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser)	rs121917992	0.00001
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)	rs779526456	0.00001
NM_001201543.2(FAM161A):c.1060C>T (p.Arg354Ter)	rs769445913	0.00001
NM_001243279.3(ACSF3):c.1028G>A (p.Trp343Ter)	rs1131691498	0.00001
NM_001243279.3(ACSF3):c.1300C>T (p.Arg434Ter)	rs766764090	0.00001
NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter)	rs1243213118	0.00001
NM_001243279.3(ACSF3):c.1329dup (p.Lys444Ter)	rs776995095	0.00001
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter)	rs748382994	0.00001
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)	rs387907119	0.00001
NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter)	rs1025201214	0.00001
NM_001243279.3(ACSF3):c.1580C>G (p.Ser527Ter)	rs1457774840	0.00001
NM_001243279.3(ACSF3):c.1613+1G>A	rs770400253	0.00001
NM_001243279.3(ACSF3):c.305del (p.Cys102fs)	rs760759040	0.00001
NM_001243279.3(ACSF3):c.348G>A (p.Trp116Ter)	rs757905943	0.00001
NM_001243279.3(ACSF3):c.408T>A (p.Tyr136Ter)	rs1313088429	0.00001
NM_001243279.3(ACSF3):c.451G>T (p.Glu151Ter)	rs752338222	0.00001
NM_001243279.3(ACSF3):c.575G>A (p.Trp192Ter)	rs1975291440	0.00001
NM_001243279.3(ACSF3):c.817C>T (p.Gln273Ter)	rs749538361	0.00001
NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter)	rs759338401	0.00001
NM_001243279.3(ACSF3):c.866del (p.Val289fs)	rs758740850	0.00001
NM_001243279.3(ACSF3):c.909C>G (p.Tyr303Ter)	rs1446221617	0.00001
NM_001253852.3(AP4B1):c.1540C>T (p.Arg514Ter)	rs767220480	0.00001
NM_001256545.2(MEGF10):c.3166C>T (p.Arg1056Ter)	rs989552169	0.00001
NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr)	rs535008556	0.00001
NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro)	rs201989042	0.00001
NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter)	rs1554222130	0.00001
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile)	rs370343781	0.00001
NM_001283009.2(RTEL1):c.458_459del (p.Gln153fs)	rs773025155	0.00001
NM_001291867.2(NHS):c.822G>A (p.Arg274=)	rs1192420369	0.00001
NM_001323289.2(CDKL5):c.1676G>A (p.Arg559Gln)	rs1926294168	0.00001
NM_001347721.2(DYRK1A):c.1883C>T (p.Thr628Met)	rs142149555	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.1646G>A (p.Trp549Ter)	rs1342457304	0.00001
NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)	rs751956557	0.00001
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)	rs119103229	0.00001
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)	rs119103231	0.00001
NM_001352514.2(HLCS):c.2451-1G>A	rs1158898827	0.00001
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu)	rs1260631800	0.00001
NM_001358530.2(MOCS1):c.1102+2T>C	rs1345407391	0.00001
NM_001358530.2(MOCS1):c.1150+20G>A	rs752653792	0.00001
NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys)	rs751603831	0.00001
NM_001358530.2(MOCS1):c.306_309dup (p.Thr104fs)	rs1768254382	0.00001
NM_001358530.2(MOCS1):c.664C>T (p.Arg222Ter)	rs1266681695	0.00001
NM_001358530.2(MOCS1):c.956G>A (p.Arg319Gln)	rs104893969	0.00001
NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr)	rs779709646	0.00001
NM_001360.3(DHCR7):c.1219A>T (p.Asn407Tyr)	rs770819693	0.00001
NM_001360.3(DHCR7):c.1222T>C (p.Tyr408His)	rs1046560765	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.506C>T (p.Ser169Leu)	rs80338855	0.00001
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp)	rs779896782	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_001360016.2(G6PD):c.1347G>C (p.Gln449His)	rs1557229572	0.00001
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro)	rs78365220	0.00001
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys)	rs979416826	0.00001
NM_001363118.2(SLC52A2):c.1088C>T (p.Pro363Leu)	rs797045202	0.00001
NM_001365088.1(SLC12A6):c.2043-2A>G	rs1372841592	0.00001
NM_001365088.1(SLC12A6):c.2230C>T (p.Arg744Ter)	rs751184319	0.00001
NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter)	rs1057516262	0.00001
NM_001365088.1(SLC12A6):c.379G>T (p.Glu127Ter)	rs199747285	0.00001
NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys)	rs121908429	0.00001
NM_001365088.1(SLC12A6):c.776del (p.Ala259fs)	rs776790336	0.00001
NM_001367561.1(DOCK7):c.1142A>G (p.Lys381Arg)	rs148287864	0.00001
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His)	rs587777395	0.00001
NM_001370259.2(MEN1):c.1012C>G (p.Leu338Val)	rs759337318	0.00001
NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val)	rs1298484645	0.00001
NM_001370259.2(MEN1):c.1157G>A (p.Gly386Asp)	rs761360623	0.00001
NM_001370259.2(MEN1):c.1367G>A (p.Arg456His)	rs372468697	0.00001
NM_001370259.2(MEN1):c.1379G>A (p.Arg460Gln)	rs200035619	0.00001
NM_001370259.2(MEN1):c.1399G>A (p.Ala467Thr)	rs779589005	0.00001
NM_001370259.2(MEN1):c.1465C>T (p.Pro489Ser)	rs587778440	0.00001
NM_001370259.2(MEN1):c.1478C>T (p.Pro493Leu)	rs766604600	0.00001
NM_001370259.2(MEN1):c.1522C>A (p.Gln508Lys)	rs386833403	0.00001
NM_001370259.2(MEN1):c.1580G>A (p.Arg527Gln)	rs1085307502	0.00001
NM_001370259.2(MEN1):c.189C>G (p.Phe63Leu)	rs137880635	0.00001
NM_001370259.2(MEN1):c.210C>A (p.Asp70Glu)	rs150308912	0.00001
NM_001370259.2(MEN1):c.329G>A (p.Gly110Glu)	rs1389398299	0.00001
NM_001370259.2(MEN1):c.526G>T (p.Ala176Ser)	rs376872829	0.00001
NM_001370259.2(MEN1):c.655-5C>G	rs752563214	0.00001
NM_001370259.2(MEN1):c.710C>T (p.Ala237Val)	rs760289964	0.00001
NM_001370259.2(MEN1):c.71C>T (p.Ala24Val)	rs1328062930	0.00001
NM_001370259.2(MEN1):c.839T>C (p.Leu280Ser)	rs368619946	0.00001
NM_001370259.2(MEN1):c.940C>T (p.Arg314Trp)	rs139936447	0.00001
NM_001370259.2(MEN1):c.94C>T (p.Pro32Ser)	rs773089218	0.00001
NM_001370658.1(BTD):c.-17+2T>C	rs745648160	0.00001
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser)	rs397514410	0.00001
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)	rs397514412	0.00001
NM_001370658.1(BTD):c.124G>A (p.Val42Met)	rs397507170	0.00001
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val)	rs397514402	0.00001
NM_001370658.1(BTD):c.1324del (p.Arg442fs)	rs397514420	0.00001
NM_001370658.1(BTD):c.1399del (p.Trp467fs)	rs397514423	0.00001
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val)	rs771537277	0.00001
NM_001370658.1(BTD):c.1553G>A (p.Arg518His)	rs397514429	0.00001
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)	rs104893687	0.00001
NM_001370658.1(BTD):c.176G>A (p.Arg59His)	rs397514343	0.00001
NM_001370658.1(BTD):c.197T>G (p.Met66Arg)	rs587783002	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.320C>T (p.Pro107Leu)	rs575787457	0.00001
NM_001370658.1(BTD):c.360G>A (p.Trp120Ter)	rs1306944669	0.00001
NM_001370658.1(BTD):c.399G>A (p.Glu133=)	rs397514360	0.00001
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)	rs397514363	0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)	rs119103232	0.00001
NM_001370658.1(BTD):c.425C>T (p.Ala142Val)	rs397514364	0.00001
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)	rs372844636	0.00001
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)	rs587783005	0.00001
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr)	rs397514381	0.00001
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)	rs397507175	0.00001
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)	rs397514382	0.00001
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)	rs397514384	0.00001
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly)	rs397514387	0.00001
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter)	rs148031701	0.00001
NM_001370658.1(BTD):c.941_942del (p.Ile314fs)	rs749162799	0.00001
NM_001370658.1(BTD):c.946C>T (p.Gln316Ter)	rs1303877451	0.00001
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu)	rs267607235	0.00001
NM_001374385.1(ATP8B1):c.1891C>T (p.Arg631Ter)	rs775370485	0.00001
NM_001376.5(DYNC1H1):c.12514-5A>G	rs774476953	0.00001
NM_001377.3(DYNC2H1):c.7985G>A (p.Arg2662Gln)	rs397514635	0.00001
NM_001378120.1(MBD5):c.2688C>T (p.His896=)	rs1681222021	0.00001
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter)	rs386833763	0.00001
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln)	rs767966376	0.00001
NM_001458.5(FLNC):c.3791-1G>C	rs781135153	0.00001
NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter)	rs760791287	0.00001
NM_001609.4(ACADSB):c.303+3A>G	rs1345480688	0.00001
NM_001625.4(AK2):c.202A>G (p.Met68Val)	rs548856916	0.00001
NM_001876.4(CPT1A):c.1027T>G (p.Phe343Val)	rs80356783	0.00001
NM_001876.4(CPT1A):c.1339C>T (p.Arg447Ter)	rs397515543	0.00001
NM_001876.4(CPT1A):c.1792C>T (p.Arg598Ter)	rs773153659	0.00001
NM_001876.4(CPT1A):c.589G>T (p.Glu197Ter)	rs1211665230	0.00001
NM_001876.4(CPT1A):c.727C>T (p.Arg243Ter)	rs779893091	0.00001
NM_001918.5(DBT):c.1017G>A (p.Lys339=)	rs1490661508	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.1430T>G (p.Met477Arg)	rs398123662	0.00001
NM_001918.5(DBT):c.365A>G (p.Tyr122Cys)	rs727503896	0.00001
NM_001918.5(DBT):c.434-15_434-4del	rs727503895	0.00001
NM_001918.5(DBT):c.52-1G>A	rs755914063	0.00001
NM_001953.5(TYMP):c.1300+1G>A	rs1064792878	0.00001
NM_001953.5(TYMP):c.235C>T (p.Arg79Ter)	rs2069504242	0.00001
NM_001953.5(TYMP):c.340G>A (p.Asp114Asn)	rs1064792861	0.00001
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro)	rs121913042	0.00001
NM_001985.3(ETFB):c.124T>C (p.Cys42Arg)	rs774387920	0.00001
NM_001985.3(ETFB):c.178G>T (p.Glu60Ter)	rs1193726585	0.00001
NM_001985.3(ETFB):c.406C>T (p.Gln136Ter)	rs1985903483	0.00001
NM_001985.3(ETFB):c.490C>T (p.Arg164Trp)	rs148045813	0.00001
NM_001985.3(ETFB):c.571C>T (p.Arg191Cys)	rs772976948	0.00001
NM_001985.3(ETFB):c.61C>T (p.Arg21Ter)	rs374288379	0.00001
NM_002204.4(ITGA3):c.1973C>G (p.Thr658Arg)	rs540704248	0.00001
NM_002206.3(ITGA7):c.998+18C>T	rs370001763	0.00001
NM_002225.5(IVD):c.1009C>T (p.Arg337Trp)	rs776608445	0.00001
NM_002225.5(IVD):c.1030G>A (p.Ala344Thr)	rs1355297002	0.00001
NM_002225.5(IVD):c.1112T>C (p.Val371Ala)	rs754600862	0.00001
NM_002225.5(IVD):c.1123G>A (p.Gly375Ser)	rs544110604	0.00001
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)	rs1477527791	0.00001
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys)	rs773560012	0.00001
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp)	rs1237032588	0.00001
NM_002225.5(IVD):c.149G>A (p.Arg50His)	rs2229311	0.00001
NM_002225.5(IVD):c.232C>T (p.Arg78Ter)	rs765815516	0.00001
NM_002225.5(IVD):c.286+2T>C	rs748026507	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.506_507insT (p.Gly170fs)	rs1462096457	0.00001
NM_002225.5(IVD):c.539C>T (p.Ala180Val)	rs559732306	0.00001
NM_002225.5(IVD):c.784+1G>A	rs763471771	0.00001
NM_002225.5(IVD):c.850C>T (p.Arg284Trp)	rs145847749	0.00001
NM_002225.5(IVD):c.865G>A (p.Gly289Arg)	rs568885234	0.00001
NM_002225.5(IVD):c.890C>T (p.Ala297Val)	rs796051983	0.00001
NM_002435.3(MPI):c.1253G>A (p.Arg418His)	rs863225087	0.00001
NM_002435.3(MPI):c.13C>T (p.Arg5Ter)	rs1452559752	0.00001
NM_002435.3(MPI):c.166C>T (p.Arg56Ter)	rs757168691	0.00001
NM_002435.3(MPI):c.251C>G (p.Ser84Ter)	rs978284448	0.00001
NM_002435.3(MPI):c.488-1G>C	rs759579169	0.00001
NM_002435.3(MPI):c.718C>T (p.Gln240Ter)	rs776340315	0.00001
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)	rs140992482	0.00001
NM_002495.4(NDUFS4):c.355G>C (p.Asp119His)	rs747359752	0.00001
NM_002528.7(NTHL1):c.256C>T (p.Gln86Ter)	rs2084372140	0.00001
NM_002528.7(NTHL1):c.433C>T (p.Arg145Ter)	rs374489979	0.00001
NM_002528.7(NTHL1):c.472C>T (p.Gln158Ter)	rs1198246754	0.00001
NM_002528.7(NTHL1):c.800G>A (p.Trp267Ter)	rs1176002553	0.00001
NM_002617.4(PEX10):c.295del (p.His99fs)	rs1557910651	0.00001
NM_002617.4(PEX10):c.746G>A (p.Trp249Ter)	rs571178917	0.00001
NM_002691.4(POLD1):c.1091T>C (p.Leu364Pro)	rs947583054	0.00001
NM_002691.4(POLD1):c.1114G>A (p.Glu372Lys)	rs960226186	0.00001
NM_002691.4(POLD1):c.1117A>G (p.Lys373Glu)	rs897166414	0.00001
NM_002691.4(POLD1):c.973A>G (p.Ile325Val)	rs558345043	0.00001
NM_002691.4(POLD1):c.992G>A (p.Arg331Gln)	rs371120096	0.00001
NM_002693.3(POLG):c.1283T>C (p.Leu428Pro)	rs774610098	0.00001
NM_002693.3(POLG):c.1433+2T>C	rs920850257	0.00001
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln)	rs764287987	0.00001
NM_002693.3(POLG):c.1735C>T (p.Arg579Trp)	rs556925652	0.00001
NM_002693.3(POLG):c.2558G>A (p.Arg853Gln)	rs796052888	0.00001
NM_002693.3(POLG):c.2584G>A (p.Ala862Thr)	rs778429780	0.00001
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln)	rs140079523	0.00001
NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg)	rs761649878	0.00001
NM_002693.3(POLG):c.3406G>A (p.Glu1136Lys)	rs56047213	0.00001
NM_002693.3(POLG):c.3483-4_3497del	rs756325504	0.00001
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu)	rs776031396	0.00001
NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter)	rs781256643	0.00001
NM_002693.3(POLG):c.915C>G (p.Ser305Arg)	rs769410130	0.00001
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)	rs397507541	0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	rs121918459	0.00001
NM_002838.5(PTPRC):c.2142+7A>G	rs764731559	0.00001
NM_002878.4(RAD51D):c.607G>A (p.Val203Met)	rs730881947	0.00001
NM_002878.4(RAD51D):c.619T>C (p.Ser207Pro)	rs372365287	0.00001
NM_002878.4(RAD51D):c.803G>A (p.Trp268Ter)	rs750219200	0.00001
NM_002913.5(RFC1):c.1147C>T (p.Arg383Ter)	rs2600447	0.00001
NM_003001.5(SDHC):c.380A>G (p.His127Arg)	rs786203457	0.00001
NM_003036.4(SKI):c.2128T>C (p.Trp710Arg)	rs863223728	0.00001
NM_003060.4(SLC22A5):c.1006C>T (p.Arg336Ter)	rs754008420	0.00001
NM_003060.4(SLC22A5):c.1072T>A (p.Tyr358Asn)	rs61731073	0.00001
NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu)	rs886042092	0.00001
NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val)	rs746187344	0.00001
NM_003060.4(SLC22A5):c.1250dup (p.Met417fs)	rs781330134	0.00001
NM_003060.4(SLC22A5):c.1336G>T (p.Val446Phe)	rs72552733	0.00001
NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys)	rs386134218	0.00001
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys)	rs72552734	0.00001
NM_003060.4(SLC22A5):c.1520T>C (p.Leu507Ser)	rs1157198543	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.455G>A (p.Gly152Asp)	rs747821417	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.629A>G (p.Asn210Ser)	rs386134198	0.00001
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys)	rs121908888	0.00001
NM_003060.4(SLC22A5):c.688T>C (p.Phe230Leu)	rs756650860	0.00001
NM_003060.4(SLC22A5):c.71del (p.Leu24fs)	rs775502377	0.00001
NM_003060.4(SLC22A5):c.77G>A (p.Ser26Asn)	rs772578415	0.00001
NM_003060.4(SLC22A5):c.806del (p.Leu269fs)	rs386134204	0.00001
NM_003060.4(SLC22A5):c.825-1G>C	rs1057516805	0.00001
NM_003060.4(SLC22A5):c.839C>T (p.Ser280Phe)	rs386134208	0.00001
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter)	rs386134212	0.00001
NM_003072.5(SMARCA4):c.2124-5C>A	rs182602020	0.00001
NM_003159.3(CDKL5):c.2809_2810insA (p.Cys937Ter)	rs1158418673	0.00001
NM_003183.6(ADAM17):c.362-11T>C	rs1664944582	0.00001
NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met)	rs1232197674	0.00001
NM_003227.4(TFR2):c.1288G>A (p.Gly430Arg)	rs780902940	0.00001
NM_003227.4(TFR2):c.1330G>A (p.Ala444Thr)	rs80338884	0.00001
NM_003331.5(TYK2):c.1404C>T (p.Asp468=)	rs374132564	0.00001
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)	rs773138218	0.00001
NM_003482.4(KMT2D):c.10027C>G (p.Leu3343Val)	rs1299043216	0.00001
NM_003482.4(KMT2D):c.13324G>A (p.Ala4442Thr)	rs911322619	0.00001
NM_003482.4(KMT2D):c.14075+8C>T	rs962057732	0.00001
NM_003482.4(KMT2D):c.181G>A (p.Gly61Ser)	rs1938304119	0.00001
NM_003482.4(KMT2D):c.2530C>A (p.Pro844Thr)	rs1196290590	0.00001
NM_003482.4(KMT2D):c.8090G>A (p.Arg2697His)	rs774178055	0.00001
NM_003482.4(KMT2D):c.9128A>G (p.Asn3043Ser)	rs746344900	0.00001
NM_003560.4(PLA2G6):c.1427+1G>A	rs750939090	0.00001
NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln)	rs587784332	0.00001
NM_003560.4(PLA2G6):c.1592-2A>C	rs1465629909	0.00001
NM_003560.4(PLA2G6):c.1933C>T (p.Arg645Ter)	rs1484455290	0.00001
NM_003664.5(AP3B1):c.1945C>T (p.Arg649Ter)	rs370293290	0.00001
NM_003664.5(AP3B1):c.3131+1G>A	rs766116144	0.00001
NM_003721.4(RFXANK):c.454_455del (p.Ile152fs)	rs753338285	0.00001
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys)	rs772294884	0.00001
NM_003764.4(STX11):c.391C>T (p.Gln131Ter)	rs794729649	0.00001
NM_003764.4(STX11):c.484C>T (p.Gln162Ter)	rs1292608555	0.00001
NM_003924.4(PHOX2B):c.785G>T (p.Gly262Val)	rs768420488	0.00001
NM_003977.4(AIP):c.571C>T (p.Arg191Cys)	rs189861025	0.00001
NM_003982.4(SLC7A7):c.1147_1151dup (p.Tyr384Ter)	rs386833798	0.00001
NM_003982.4(SLC7A7):c.1244_1245insTTAC (p.Lys415fs)	rs752263234	0.00001
NM_003982.4(SLC7A7):c.1383_1384del (p.Ile461fs)	rs1355745932	0.00001
NM_003982.4(SLC7A7):c.1387del (p.Val463fs)	rs386833806	0.00001
NM_003982.4(SLC7A7):c.545dup (p.Val183fs)	rs386833818	0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)	rs104894413	0.00001
NM_004092.4(ECHS1):c.523G>A (p.Gly175Ser)	rs962504241	0.00001
NM_004211.5(SLC6A5):c.1969+4A>T	rs1476186922	0.00001
NM_004211.5(SLC6A5):c.683C>A (p.Ala228Asp)	rs371265931	0.00001
NM_004360.5(CDH1):c.2194C>T (p.Arg732Trp)	rs864622198	0.00001
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter)	rs201330912	0.00001
NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr)	rs779253471	0.00001
NM_004453.4(ETFDH):c.1331T>C (p.Val444Ala)	rs760234838	0.00001
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu)	rs200920510	0.00001
NM_004453.4(ETFDH):c.1852T>C (p.Ter618Gln)	rs765742496	0.00001
NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro)	rs1172887273	0.00001
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg)	rs779896449	0.00001
NM_004453.4(ETFDH):c.643G>A (p.Ala215Thr)	rs755214552	0.00001
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn)	rs748289922	0.00001
NM_004453.4(ETFDH):c.728T>C (p.Ile243Thr)	rs1397900640	0.00001
NM_004453.4(ETFDH):c.733G>A (p.Ala245Thr)	rs371260517	0.00001
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)	rs537038850	0.00001
NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg)	rs763541530	0.00001
NM_004453.4(ETFDH):c.835T>C (p.Trp279Arg)	rs754082348	0.00001
NM_004531.5(MOCS2):c.78T>C (p.Asp26=)	rs780363320	0.00001
NM_004539.4(NARS1):c.1633C>T (p.Arg545Cys)	rs770931044	0.00001
NM_004553.6(NDUFS6):c.309+5G>A	rs763535523	0.00001
NM_004628.5(XPC):c.362del (p.Asp121fs)	rs753506183	0.00001
NM_004629.2(FANCG):c.787C>T (p.Gln263Ter)	rs149721361	0.00001
NM_004646.4(NPHS1):c.1019C>A (p.Pro340His)	rs386833861	0.00001
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro)	rs386833863	0.00001
NM_004646.4(NPHS1):c.105G>A (p.Trp35Ter)	rs1450477596	0.00001
NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg)	rs386833864	0.00001
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys)	rs386833865	0.00001
NM_004646.4(NPHS1):c.1170+7C>T	rs906888001	0.00001
NM_004646.4(NPHS1):c.1481del (p.Ser494fs)	rs386833883	0.00001
NM_004646.4(NPHS1):c.1531C>T (p.Arg511Ter)	rs138852882	0.00001
NM_004646.4(NPHS1):c.1555C>T (p.Pro519Ser)	rs386833884	0.00001
NM_004646.4(NPHS1):c.1954C>T (p.Gln652Ter)	rs386833899	0.00001
NM_004646.4(NPHS1):c.2071+2T>C	rs386833901	0.00001
NM_004646.4(NPHS1):c.2131C>A (p.Arg711Ser)	rs764181464	0.00001
NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp)	rs386833912	0.00001
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter)	rs386833920	0.00001
NM_004646.4(NPHS1):c.2815+3A>G	rs1223946044	0.00001
NM_004646.4(NPHS1):c.3233C>A (p.Ala1078Asp)	rs775829291	0.00001
NM_004646.4(NPHS1):c.3595-2A>G	rs386833940	0.00001
NM_004646.4(NPHS1):c.534del (p.Thr179fs)	rs386833952	0.00001
NM_004646.4(NPHS1):c.616C>A (p.Pro206Thr)	rs201822740	0.00001
NM_004646.4(NPHS1):c.692C>A (p.Ser231Ter)	rs386833958	0.00001
NM_004646.4(NPHS1):c.808G>T (p.Gly270Cys)	rs386833961	0.00001
NM_004656.4(BAP1):c.1052C>T (p.Thr351Ile)	rs1291142030	0.00001
NM_004656.4(BAP1):c.1057A>G (p.Ile353Val)	rs1454672768	0.00001
NM_004656.4(BAP1):c.1253A>G (p.Tyr418Cys)	rs773947541	0.00001
NM_004656.4(BAP1):c.1358A>G (p.Lys453Arg)	rs758996824	0.00001
NM_004656.4(BAP1):c.1495A>G (p.Ile499Val)	rs775760293	0.00001
NM_004656.4(BAP1):c.1721C>T (p.Ala574Val)	rs761596789	0.00001
NM_004656.4(BAP1):c.1751C>A (p.Pro584His)	rs374877744	0.00001
NM_004656.4(BAP1):c.1858G>A (p.Glu620Lys)	rs758585834	0.00001
NM_004656.4(BAP1):c.2014G>A (p.Asp672Asn)	rs144881611	0.00001
NM_004656.4(BAP1):c.250C>T (p.His84Tyr)	rs1338231889	0.00001
NM_004656.4(BAP1):c.341G>A (p.Arg114His)	rs773494626	0.00001
NM_004656.4(BAP1):c.722A>G (p.Tyr241Cys)	rs367867008	0.00001
NM_004813.4(PEX16):c.859C>T (p.Arg287Cys)	rs769772100	0.00001
NM_004830.4(MED23):c.1078-6T>G	rs750247163	0.00001
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)	rs267606754	0.00001
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)	rs746307931	0.00001
NM_005006.7(NDUFS1):c.721C>T (p.Arg241Trp)	rs199422225	0.00001
NM_005055.5(RAPSN):c.493G>A (p.Val165Met)	rs761584017	0.00001
NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp)	rs374604570	0.00001
NM_005138.3(SCO2):c.577G>A (p.Gly193Ser)	rs759452074	0.00001
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln)	rs267606708	0.00001
NM_005198.5(CHKB):c.1031+3G>C	rs751176079	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.736C>T (p.Arg246Trp)	rs773729410	0.00001
NM_005585.5(SMAD6):c.706C>T (p.Gln236Ter)	rs1893047812	0.00001
NM_005591.4(MRE11):c.1096C>T (p.Arg366Ter)	rs372411821	0.00001
NM_005591.4(MRE11):c.1563+1G>A	rs1381679718	0.00001
NM_005591.4(MRE11):c.1633_1640del (p.Leu545fs)	rs876660186	0.00001
NM_005591.4(MRE11):c.170T>G (p.Leu57Ter)	rs951805101	0.00001
NM_005591.4(MRE11):c.2070+2T>A	rs786202801	0.00001
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser)	rs137852760	0.00001
NM_005591.4(MRE11):c.504_511del (p.Leu169fs)	rs786202253	0.00001
NM_005591.4(MRE11):c.659+1G>A	rs759130031	0.00001
NM_005591.4(MRE11):c.77T>C (p.Met26Thr)	rs372068015	0.00001
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys)	rs757681143	0.00001
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu)	rs773204705	0.00001
NM_005609.4(PYGM):c.1239+1G>A	rs759657964	0.00001
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu)	rs756251887	0.00001
NM_005609.4(PYGM):c.1468C>T (p.Arg490Trp)	rs765612286	0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp)	rs377225525	0.00001
NM_005609.4(PYGM):c.1709G>A (p.Arg570Gln)	rs143550601	0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)	rs119103255	0.00001
NM_005609.4(PYGM):c.1768+2T>G	rs747513238	0.00001
NM_005609.4(PYGM):c.1769G>A (p.Arg590His)	rs115942812	0.00001
NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp)	rs750195683	0.00001
NM_005609.4(PYGM):c.1827G>A (p.Lys609=)	rs119103259	0.00001
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)	rs119103253	0.00001
NM_005609.4(PYGM):c.2111C>T (p.Ala704Val)	rs1483102315	0.00001
NM_005609.4(PYGM):c.247A>T (p.Ile83Phe)	rs761616685	0.00001
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro)	rs776680924	0.00001
NM_005609.4(PYGM):c.549G>A (p.Trp183Ter)	rs1223885403	0.00001
NM_005609.4(PYGM):c.661-601G>A	rs1474863903	0.00001
NM_005609.4(PYGM):c.78_79del (p.Glu27fs)	rs755117847	0.00001
NM_005677.4(COLQ):c.1281C>T (p.Cys427=)	rs185829251	0.00001
NM_005677.4(COLQ):c.175C>T (p.Pro59Ser)	rs763036328	0.00001
NM_005677.4(COLQ):c.954+1G>A	rs757060689	0.00001
NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter)	rs1247689593	0.00001
NM_005732.4(RAD50):c.1237C>T (p.Gln413Ter)	rs373428259	0.00001
NM_005732.4(RAD50):c.3598C>T (p.Arg1200Ter)	rs750586158	0.00001
NM_005732.4(RAD50):c.552-1G>A	rs1236278956	0.00001
NM_005732.4(RAD50):c.94dup (p.Thr32fs)	rs587781625	0.00001
NM_005989.4(AKR1D1):c.509A>G (p.Asn170Ser)	rs753124330	0.00001
NM_005993.5(TBCD):c.2314C>T (p.Arg772Cys)	rs181969865	0.00001
NM_005993.5(TBCD):c.967C>T (p.Arg323Ter)	rs773790897	0.00001
NM_006005.3(WFS1):c.2191A>G (p.Met731Val)	rs144010362	0.00001
NM_006005.3(WFS1):c.2263T>C (p.Cys755Arg)	rs797045075	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.1887+1G>A	rs1554999205	0.00001
NM_006019.4(TCIRG1):c.196+5G>A	rs1470999303	0.00001
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter)	rs1338631330	0.00001
NM_006019.4(TCIRG1):c.630G>A (p.Thr210=)	rs1293760338	0.00001
NM_006019.4(TCIRG1):c.971dup (p.Cys324fs)	rs1565156743	0.00001
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter)	rs749361897	0.00001
NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter)	rs119479062	0.00001
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp)	rs373044722	0.00001
NM_006208.3(ENPP1):c.1652A>G (p.Tyr551Cys)	rs753071702	0.00001
NM_006214.4(PHYH):c.135-1G>C	rs1057272016	0.00001
NM_006214.4(PHYH):c.610G>A (p.Gly204Ser)	rs104894173	0.00001
NM_006214.4(PHYH):c.824G>A (p.Arg275Gln)	rs104894174	0.00001
NM_006231.4(POLE):c.1420G>A (p.Val474Ile)	rs980578884	0.00001
NM_006231.4(POLE):c.901G>A (p.Asp301Asn)	rs1060500882	0.00001
NM_006261.5(PROP1):c.334C>T (p.Arg112Ter)	rs766673446	0.00001
NM_006306.4(SMC1A):c.1911+7A>G	rs2075687773	0.00001
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln)	rs753679297	0.00001
NM_006493.4(CLN5):c.188G>A (p.Arg63His)	rs104894386	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_006618.5(KDM5B):c.895C>T (p.Arg299Ter)	rs1558498928	0.00001
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter)	rs769256568	0.00001
NM_006734.4(HIVEP2):c.2156C>T (p.Thr719Ile)	rs780128851	0.00001
NM_006767.4(LZTR1):c.1785+1G>A	rs145594158	0.00001
NM_006767.4(LZTR1):c.2407-2A>G	rs1158550690	0.00001
NM_006767.4(LZTR1):c.263+1G>A	rs761241914	0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)	rs1223430276	0.00001
NM_006772.3(SYNGAP1):c.2971G>A (p.Gly991Arg)	rs145472959	0.00001
NM_006904.7(PRKDC):c.7080T>C (p.Phe2360=)	rs1463023336	0.00001
NM_006904.7(PRKDC):c.7371C>T (p.Pro2457=)	rs1037182844	0.00001
NM_006946.4(SPTBN2):c.1973G>A (p.Arg658Gln)	rs753491527	0.00001
NM_006949.4(STXBP2):c.1452+1G>A	rs779558314	0.00001
NM_006949.4(STXBP2):c.1611T>G (p.Tyr537Ter)	rs772962304	0.00001
NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter)	rs760502479	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.1039G>A (p.Asp347Asn)	rs28909980	0.00001
NM_007194.4(CHEK2):c.1259G>A (p.Cys420Tyr)	rs578218280	0.00001
NM_007194.4(CHEK2):c.1260-8A>G	rs863224747	0.00001
NM_007194.4(CHEK2):c.1376-13A>G	rs1064793330	0.00001
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)	rs540635787	0.00001
NM_007194.4(CHEK2):c.1448A>G (p.His483Arg)	rs587780177	0.00001
NM_007194.4(CHEK2):c.1489del (p.Asp497fs)	rs774175654	0.00001
NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter)	rs1064793817	0.00001
NM_007194.4(CHEK2):c.319+1G>A	rs765080766	0.00001
NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg)	rs72552323	0.00001
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly)	rs587781652	0.00001
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe)	rs745646057	0.00001
NM_007194.4(CHEK2):c.592+3A>T	rs587782849	0.00001
NM_007194.4(CHEK2):c.792+2T>C	rs545982789	0.00001
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter)	rs761494650	0.00001
NM_007272.3(CTRC):c.494-1G>C	rs766917452	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.2483_2485del (p.Gly828_Phe829delinsVal)	rs80358331	0.00001
NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs)	rs80357717	0.00001
NM_007294.4(BRCA1):c.301+6T>C	rs753859240	0.00001
NM_007294.4(BRCA1):c.397C>T (p.Arg133Cys)	rs80357457	0.00001
NM_007294.4(BRCA1):c.4096+1G>A	rs80358178	0.00001
NM_007294.4(BRCA1):c.4115G>A (p.Cys1372Tyr)	rs55848034	0.00001
NM_007294.4(BRCA1):c.442-1G>T	rs1351019392	0.00001
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr)	rs80356987	0.00001
NM_007294.4(BRCA1):c.4846G>A (p.Ala1616Thr)	rs890599236	0.00001
NM_007294.4(BRCA1):c.4903G>A (p.Glu1635Lys)	rs200432771	0.00001
NM_007294.4(BRCA1):c.4986+6T>C	rs80358086	0.00001
NM_007294.4(BRCA1):c.5066T>C (p.Met1689Thr)	rs80357061	0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)	rs41293459	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.5324T>G (p.Met1775Arg)	rs41293463	0.00001
NM_007294.4(BRCA1):c.5327C>T (p.Pro1776Leu)	rs398122695	0.00001
NM_007294.4(BRCA1):c.5333A>G (p.Asp1778Gly)	rs80357041	0.00001
NM_007294.4(BRCA1):c.5349G>A (p.Met1783Ile)	rs587782019	0.00001
NM_007294.4(BRCA1):c.535T>C (p.Tyr179His)	rs587781761	0.00001
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr)	rs80356929	0.00001
NM_007294.4(BRCA1):c.5406+5G>T	rs80358073	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.5479A>G (p.Met1827Val)	rs771606902	0.00001
NM_007294.4(BRCA1):c.5501C>T (p.Thr1834Ile)	rs730881500	0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)	rs41293465	0.00001
NM_007294.4(BRCA1):c.5506G>A (p.Glu1836Lys)	rs80356942	0.00001
NM_007294.4(BRCA1):c.5538G>C (p.Gln1846His)	rs80356849	0.00001
NM_007294.4(BRCA1):c.5573T>C (p.Ile1858Thr)	rs755427809	0.00001
NM_007327.4(GRIN1):c.448G>A (p.Val150Met)	rs1187375556	0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	rs267607048	0.00001
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys)	rs180177307	0.00001
NM_012203.2(GRHPR):c.404+5G>A	rs757796926	0.00001
NM_012203.2(GRHPR):c.454dup (p.Thr152fs)	rs771019056	0.00001
NM_012203.2(GRHPR):c.478G>A (p.Gly160Arg)	rs180177312	0.00001
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys)	rs180177322	0.00001
NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter)	rs1331106064	0.00001
NM_012213.3(MLYCD):c.928C>T (p.Arg310Ter)	rs759043861	0.00001
NM_012216.4(MID2):c.1558G>A (p.Gly520Ser)	rs750972972	0.00001
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter)	rs1057516910	0.00001
NM_012434.5(SLC17A5):c.1111+1G>A	rs777862172	0.00001
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)	rs769235753	0.00001
NM_012434.5(SLC17A5):c.1259+1G>A	rs146095590	0.00001
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)	rs1234745577	0.00001
NM_012434.5(SLC17A5):c.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.680+1G>A	rs1253289234	0.00001
NM_013339.4(ALG6):c.680+2T>G	rs868768232	0.00001
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu)	rs372079206	0.00001
NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser)	rs267606970	0.00001
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro)	rs190285831	0.00001
NM_013382.7(POMT2):c.1976G>A (p.Arg659Gln)	rs770606360	0.00001
NM_014049.5(ACAD9):c.1168G>A (p.Ala390Thr)	rs763004980	0.00001
NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys)	rs149753643	0.00001
NM_014049.5(ACAD9):c.1594C>T (p.Arg532Trp)	rs377022708	0.00001
NM_014049.5(ACAD9):c.1646G>A (p.Arg549Gln)	rs750899715	0.00001
NM_014049.5(ACAD9):c.253C>T (p.Arg85Ter)	rs148694290	0.00001
NM_014171.6(CRIPT):c.8G>A (p.Cys3Tyr)	rs757078301	0.00001
NM_014236.4(GNPAT):c.631C>T (p.Arg211Cys)	rs121434440	0.00001
NM_014249.4(NR2E3):c.310C>T (p.Arg104Trp)	rs990307718	0.00001
NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln)	rs766096417	0.00001
NM_014251.3(SLC25A13):c.1231G>A (p.Val411Met)	rs768922690	0.00001
NM_014252.4(SLC25A15):c.22C>T (p.Gln8Ter)	rs1448259297	0.00001
NM_014252.4(SLC25A15):c.514G>T (p.Gly172Ter)	rs1480063127	0.00001
NM_014252.4(SLC25A15):c.623-1G>A	rs749817266	0.00001
NM_014252.4(SLC25A15):c.79G>A (p.Gly27Arg)	rs104894430	0.00001
NM_014252.4(SLC25A15):c.824G>A (p.Arg275Gln)	rs104894431	0.00001
NM_014297.5(ETHE1):c.187C>T (p.Gln63Ter)	rs368778231	0.00001
NM_014297.5(ETHE1):c.375+5G>A	rs769259233	0.00001
NM_014297.5(ETHE1):c.388del (p.Arg130fs)	rs1236038385	0.00001
NM_014297.5(ETHE1):c.505+1G>A	rs935855792	0.00001
NM_014297.5(ETHE1):c.79C>T (p.Gln27Ter)	rs749803238	0.00001
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)	rs121918329	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.11274_11276del (p.Ile3758_Thr3759delinsMet)	rs1454517884	0.00001
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)	rs762947018	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.434C>G (p.Ser145Ter)	rs994374354	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.7205_7206del (p.Leu2402fs)	rs773182375	0.00001
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter)	rs145766983	0.00001
NM_014363.6(SACS):c.8108G>A (p.Arg2703His)	rs750181262	0.00001
NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu)	rs1213203489	0.00001
NM_014363.6(SACS):c.814C>T (p.Arg272Cys)	rs374128662	0.00001
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter)	rs886041949	0.00001
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp)	rs121908420	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_014714.4(IFT140):c.2945G>A (p.Arg982Gln)	rs766316995	0.00001
NM_014762.4(DHCR24):c.281G>A (p.Arg94His)	rs387906939	0.00001
NM_014795.4(ZEB2):c.1112A>T (p.Asn371Ile)	rs1290033369	0.00001
NM_014875.3(KIF14):c.103C>T (p.Arg35Ter)	rs774318019	0.00001
NM_015166.4(MLC1):c.136del (p.Cys46fs)	rs1057516766	0.00001
NM_015166.4(MLC1):c.177+1G>T	rs1374593138	0.00001
NM_015166.4(MLC1):c.206C>T (p.Ser69Leu)	rs281875309	0.00001
NM_015166.4(MLC1):c.278C>T (p.Ser93Leu)	rs80358245	0.00001
NM_015166.4(MLC1):c.353C>T (p.Thr118Met)	rs281875316	0.00001
NM_015166.4(MLC1):c.714+1G>A	rs761620701	0.00001
NM_015166.4(MLC1):c.881C>T (p.Pro294Leu)	rs1050220787	0.00001
NM_015294.6(TRIM37):c.1411C>T (p.Arg471Ter)	rs386834001	0.00001
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs)	rs551541795	0.00001
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs)	rs768019897	0.00001
NM_015506.3(MMACHC):c.384del (p.Tyr129fs)	rs1347498294	0.00001
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His)	rs372670428	0.00001
NM_015506.3(MMACHC):c.430-2A>G	rs376964010	0.00001
NM_015506.3(MMACHC):c.434dup (p.Ser146fs)	rs768978351	0.00001
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)	rs538023671	0.00001
NM_015506.3(MMACHC):c.712C>T (p.Gln238Ter)	rs757033378	0.00001
NM_015702.3(MMADHC):c.154+1G>A	rs1385597423	0.00001
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter)	rs118204048	0.00001
NM_015836.4(WARS2):c.487C>T (p.Leu163Phe)	rs570439512	0.00001
NM_016035.5(COQ4):c.458C>T (p.Ala153Val)	rs757173567	0.00001
NM_016038.4(SBDS):c.652C>T (p.Arg218Ter)	rs113993998	0.00001
NM_016204.4(GDF2):c.252G>A (p.Glu84=)	rs1410431494	0.00001
NM_016219.5(MAN1B1):c.1833_1834del (p.Asp613fs)	rs1382373816	0.00001
NM_016222.4(DDX41):c.1030G>T (p.Asp344Tyr)	rs1761092414	0.00001
NM_016222.4(DDX41):c.364G>T (p.Glu122Ter)	rs200567842	0.00001
NM_016222.4(DDX41):c.517G>A (p.Gly173Arg)	rs746166328	0.00001
NM_016222.4(DDX41):c.649T>C (p.Ser217Pro)	rs376867329	0.00001
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp)	rs564185858	0.00001
NM_016955.4(SEPSECS):c.1148dup (p.His383fs)	rs761072755	0.00001
NM_017534.6(MYH2):c.4537+1G>A	rs567336764	0.00001
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val)	rs748862853	0.00001
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His)	rs150877512	0.00001
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser)	rs760705290	0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)	rs375431575	0.00001
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)	rs386834034	0.00001
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)	rs386834039	0.00001
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)	rs773684291	0.00001
NM_017849.4(TMEM127):c.158G>C (p.Trp53Ser)	rs121908818	0.00001
NM_017934.7(PHIP):c.2902C>T (p.Arg968Ter)	rs200788163	0.00001
NM_017946.4(FKBP14):c.428C>G (p.Ser143Ter)	rs753355121	0.00001
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)	rs398123009	0.00001
NM_018062.4(FANCL):c.273+1G>C	rs144729980	0.00001
NM_018082.6(POLR3B):c.986G>A (p.Arg329Gln)	rs1337382297	0.00001
NM_018480.7(TMEM126B):c.137del (p.Ala46fs)	rs764565613	0.00001
NM_018486.3(HDAC8):c.932C>T (p.Thr311Met)	rs397515417	0.00001
NM_019042.5(PUS7):c.1160C>T (p.Thr387Met)	rs916775904	0.00001
NM_020166.5(MCCC1):c.1074G>A (p.Trp358Ter)	rs367625370	0.00001
NM_020166.5(MCCC1):c.1315G>A (p.Val439Met)	rs398124352	0.00001
NM_020166.5(MCCC1):c.1483C>T (p.Gln495Ter)	rs1713700813	0.00001
NM_020166.5(MCCC1):c.1682-3A>G	rs760180709	0.00001
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer)	rs119103217	0.00001
NM_020166.5(MCCC1):c.313C>T (p.Gln105Ter)	rs1163620394	0.00001
NM_020166.5(MCCC1):c.539G>T (p.Gly180Val)	rs748201122	0.00001
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly)	rs746500530	0.00001
NM_020166.5(MCCC1):c.872del (p.Ala291fs)	rs748269732	0.00001
NM_020320.5(RARS2):c.1582_1583dup (p.Leu528fs)	rs863224183	0.00001
NM_020320.5(RARS2):c.1651-2A>G	rs2482925700	0.00001
NM_020320.5(RARS2):c.1679G>A (p.Arg560His)	rs756502974	0.00001
NM_020320.5(RARS2):c.297+2T>G	rs574343583	0.00001
NM_020320.5(RARS2):c.517G>A (p.Asp173Asn)	rs769045045	0.00001
NM_020320.5(RARS2):c.685C>T (p.Arg229Ter)	rs769473411	0.00001
NM_020320.5(RARS2):c.879-1G>C	rs1428801547	0.00001
NM_020442.6(VARS2):c.1400G>A (p.Arg467His)	rs775439829	0.00001
NM_020458.4(TTC7A):c.2495C>T (p.Ala832Val)	rs755985958	0.00001
NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro)	rs767122713	0.00001
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter)	rs121908371	0.00001
NM_020533.3(MCOLN1):c.984+1G>A	rs767950930	0.00001
NM_020549.5(CHAT):c.1231G>T (p.Gly411Ter)	rs746595362	0.00001
NM_020549.5(CHAT):c.1258C>T (p.Arg420Cys)	rs121912822	0.00001
NM_020549.5(CHAT):c.1321G>A (p.Glu441Lys)	rs121912816	0.00001
NM_020549.5(CHAT):c.1510C>T (p.Arg504Ter)	rs371470622	0.00001
NM_020549.5(CHAT):c.1679G>A (p.Arg560His)	rs121912819	0.00001
NM_020549.5(CHAT):c.1681C>T (p.Arg561Ter)	rs1458796820	0.00001
NM_020549.5(CHAT):c.243G>A (p.Trp81Ter)	rs1384661323	0.00001
NM_020686.6(ABAT):c.275G>A (p.Arg92Gln)	rs724159992	0.00001
NM_020708.5(SLC12A5):c.148-16C>G	rs751494861	0.00001
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp)	rs765513105	0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)	rs75076352	0.00001
NM_020975.6(RET):c.1996A>G (p.Lys666Glu)	rs143795581	0.00001
NM_020975.6(RET):c.3332C>T (p.Thr1111Met)	rs1003057639	0.00001
NM_021922.3(FANCE):c.1114-8G>A	rs878854342	0.00001
NM_021922.3(FANCE):c.265C>T (p.Arg89Ter)	rs752690798	0.00001
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter)	rs121434506	0.00001
NM_021922.3(FANCE):c.635del (p.Glu212fs)	rs1408598940	0.00001
NM_021922.3(FANCE):c.940C>T (p.Gln314Ter)	rs760150539	0.00001
NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg)	rs397509417	0.00001
NM_021942.6(TRAPPC11):c.3014C>T (p.Pro1005Leu)	rs764158202	0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)	rs397517349	0.00001
NM_022132.5(MCCC2):c.100C>T (p.Gln34Ter)	rs1413464990	0.00001
NM_022132.5(MCCC2):c.1064T>A (p.Leu355Ter)	rs751393852	0.00001
NM_022132.5(MCCC2):c.1342G>A (p.Gly448Arg)	rs766045910	0.00001
NM_022132.5(MCCC2):c.1412_1413del (p.Ser471fs)	rs780304038	0.00001
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met)	rs767575019	0.00001
NM_022132.5(MCCC2):c.1488G>C (p.Gln496His)	rs745367639	0.00001
NM_022132.5(MCCC2):c.1570G>A (p.Ala524Thr)	rs774241918	0.00001
NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter)	rs760881963	0.00001
NM_022132.5(MCCC2):c.230C>G (p.Ser77Ter)	rs1304896406	0.00001
NM_022132.5(MCCC2):c.281+5G>A	rs944539388	0.00001
NM_022132.5(MCCC2):c.302C>T (p.Ser101Phe)	rs748028684	0.00001
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln)	rs119103220	0.00001
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg)	rs119103222	0.00001
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter)	rs780011606	0.00001
NM_022132.5(MCCC2):c.562C>T (p.Arg188Ter)	rs774180632	0.00001
NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp)	rs766753795	0.00001
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr)	rs119103226	0.00001
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter)	rs727504010	0.00001
NM_022464.5(SIL1):c.741G>A (p.Ala247=)	rs773520401	0.00001
NM_022725.4(FANCF):c.338A>G (p.Gln113Arg)	rs757993614	0.00001
NM_024120.5(NDUFAF5):c.155A>C (p.Lys52Thr)	rs531254130	0.00001
NM_024120.5(NDUFAF5):c.686T>C (p.Leu229Pro)	rs118203929	0.00001
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val)	rs757043077	0.00001
NM_024301.5(FKRP):c.854A>C (p.Glu285Ala)	rs963039919	0.00001
NM_024422.6(DSC2):c.631-2A>G	rs397514042	0.00001
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter)	rs1014835928	0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)	rs121917778	0.00001
NM_024649.5(BBS1):c.1643dup (p.Glu549fs)	rs773632109	0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)	rs200688985	0.00001
NM_024649.5(BBS1):c.48-2A>C	rs764245266	0.00001
NM_024649.5(BBS1):c.951+1G>A	rs746875134	0.00001
NM_024675.4(PALB2):c.10C>T (p.Pro4Ser)	rs587782483	0.00001
NM_024675.4(PALB2):c.127A>G (p.Lys43Glu)	rs765125459	0.00001
NM_024675.4(PALB2):c.1343G>A (p.Ser448Asn)	rs956172059	0.00001
NM_024675.4(PALB2):c.156del (p.Glu53fs)	rs587776406	0.00001
NM_024675.4(PALB2):c.1696C>T (p.Arg566Cys)	rs746582620	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.2012T>G (p.Leu671Ter)	rs755263466	0.00001
NM_024675.4(PALB2):c.2087C>T (p.Thr696Met)	rs587780820	0.00001
NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter)	rs764509489	0.00001
NM_024675.4(PALB2):c.2356C>T (p.His786Tyr)	rs786203608	0.00001
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)	rs180177112	0.00001
NM_024675.4(PALB2):c.2514+3A>G	rs515726088	0.00001
NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg)	rs587782387	0.00001
NM_024675.4(PALB2):c.2753C>A (p.Pro918Gln)	rs587780822	0.00001
NM_024675.4(PALB2):c.2792T>G (p.Leu931Arg)	rs773831304	0.00001
NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln)	rs515726103	0.00001
NM_024675.4(PALB2):c.2978C>T (p.Thr993Met)	rs61756146	0.00001
NM_024675.4(PALB2):c.3044C>T (p.Thr1015Ile)	rs367840862	0.00001
NM_024675.4(PALB2):c.3049G>A (p.Ala1017Thr)	rs759795184	0.00001
NM_024675.4(PALB2):c.3073G>A (p.Ala1025Thr)	rs746872839	0.00001
NM_024675.4(PALB2):c.3113+5G>C	rs876659463	0.00001
NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala)	rs377713277	0.00001
NM_024675.4(PALB2):c.3201+1G>T	rs587776423	0.00001
NM_024675.4(PALB2):c.3350+5G>A	rs587782566	0.00001
NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu)	rs773829275	0.00001
NM_024675.4(PALB2):c.3538A>G (p.Ile1180Val)	rs863224788	0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)	rs118203998	0.00001
NM_024675.4(PALB2):c.560C>A (p.Pro187His)	rs371582757	0.00001
NM_024675.4(PALB2):c.758dup (p.Ser254fs)	rs515726126	0.00001
NM_024675.4(PALB2):c.814G>A (p.Glu272Lys)	rs515726127	0.00001
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter)	rs786203821	0.00001
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser)	rs786204575	0.00001
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter)	rs898539189	0.00001
NM_024685.4(BBS10):c.1804G>C (p.Val602Leu)	rs778431173	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_024757.5(EHMT1):c.110G>A (p.Gly37Asp)	rs1300327079	0.00001
NM_024818.6(UBA5):c.169A>G (p.Met57Val)	rs532178791	0.00001
NM_024989.4(PGAP1):c.1663C>T (p.Gln555Ter)	rs755341613	0.00001
NM_024996.7(GFM1):c.100C>T (p.Arg34Ter)	rs766234016	0.00001
NM_024996.7(GFM1):c.688G>A (p.Gly230Ser)	rs774456344	0.00001
NM_024996.7(GFM1):c.700C>T (p.Arg234Ter)	rs863224032	0.00001
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)	rs139430866	0.00001
NM_025000.4(DCAF17):c.231-8T>A	rs774566117	0.00001
NM_025074.7(FRAS1):c.4259G>A (p.Trp1420Ter)	rs753263924	0.00001
NM_025099.6(CTC1):c.775G>A (p.Val259Met)	rs387907080	0.00001
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)	rs1290241933	0.00001
NM_025243.4(SLC19A3):c.81_82dup (p.Met28fs)	rs775835429	0.00001
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg)	rs80358230	0.00001
NM_031407.7(HUWE1):c.10111G>A (p.Ala3371Thr)	rs781993401	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.471G>A (p.Thr157=)	rs749983428	0.00001
NM_031885.5(BBS2):c.563del (p.Ile188fs)	rs1367927635	0.00001
NM_031885.5(BBS2):c.653G>A (p.Gly218Asp)	rs1375309270	0.00001
NM_031885.5(BBS2):c.717+1G>A	rs1047075022	0.00001
NM_032043.3(BRIP1):c.1188dup (p.Asn397Ter)	rs1603342313	0.00001
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)	rs368796923	0.00001
NM_032043.3(BRIP1):c.1594dup (p.Met532fs)	rs1339743866	0.00001
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter)	rs575595017	0.00001
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys)	rs764803896	0.00001
NM_032043.3(BRIP1):c.2464dup (p.Tyr822fs)	rs1483527885	0.00001
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter)	rs587782410	0.00001
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)	rs779741278	0.00001
NM_032043.3(BRIP1):c.806C>G (p.Ser269Ter)	rs1412610651	0.00001
NM_032383.5(HPS3):c.2589+2T>C	rs1411572278	0.00001
NM_032409.3(PINK1):c.1123+19A>G	rs762129771	0.00001
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter)	rs760126773	0.00001
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)	rs387907236	0.00001
NM_033028.5(BBS4):c.1072_1073del (p.Lys358fs)	rs2065896039	0.00001
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu)	rs28938468	0.00001
NM_033028.5(BBS4):c.1450+2T>C	rs2065938100	0.00001
NM_052845.4(MMAB):c.380C>A (p.Ala127Asp)	rs778169806	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_052845.4(MMAB):c.584G>A (p.Arg195His)	rs756195708	0.00001
NM_052859.4(RFT1):c.1154A>G (p.Asn385Ser)	rs891986217	0.00001
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter)	rs786204537	0.00001
NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln)	rs771937610	0.00001
NM_054012.4(ASS1):c.174+1G>A	rs748264993	0.00001
NM_054012.4(ASS1):c.174+1G>T	rs748264993	0.00001
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys)	rs121908644	0.00001
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser)	rs770944877	0.00001
NM_054012.4(ASS1):c.379C>T (p.Arg127Trp)	rs771794639	0.00001
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)	rs121908636	0.00001
NM_054012.4(ASS1):c.496-2A>G	rs398123130	0.00001
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu)	rs121908643	0.00001
NM_054012.4(ASS1):c.577G>A (p.Gly193Arg)	rs1311437424	0.00001
NM_054012.4(ASS1):c.647C>A (p.Ala216Asp)	rs1043964127	0.00001
NM_054012.4(ASS1):c.689-2A>C	rs374586230	0.00001
NM_054012.4(ASS1):c.773+49C>T	rs763389916	0.00001
NM_054012.4(ASS1):c.793C>T (p.Arg265Cys)	rs148918985	0.00001
NM_054012.4(ASS1):c.794G>A (p.Arg265His)	rs398123131	0.00001
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter)	rs121908645	0.00001
NM_054012.4(ASS1):c.838+1G>T	rs750214431	0.00001
NM_054012.4(ASS1):c.970+5G>A	rs372128852	0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs)	rs779009256	0.00001
NM_058216.3(RAD51C):c.154A>C (p.Ile52Leu)	rs730881927	0.00001
NM_058216.3(RAD51C):c.233C>T (p.Thr78Ile)	rs112832782	0.00001
NM_058216.3(RAD51C):c.252G>T (p.Lys84Asn)	rs786202890	0.00001
NM_058216.3(RAD51C):c.404+2T>C	rs730881931	0.00001
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe)	rs267606999	0.00001
NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp)	rs765730332	0.00001
NM_058216.3(RAD51C):c.523G>A (p.Ala175Thr)	rs587780838	0.00001
NM_058216.3(RAD51C):c.571+4A>G	rs587780257	0.00001
NM_058216.3(RAD51C):c.621T>A (p.His207Gln)	rs786201848	0.00001
NM_058216.3(RAD51C):c.779G>A (p.Arg260Gln)	rs730881926	0.00001
NM_058216.3(RAD51C):c.835G>C (p.Ala279Pro)	rs587782507	0.00001
NM_058216.3(RAD51C):c.869T>C (p.Ile290Thr)	rs749645694	0.00001
NM_058216.3(RAD51C):c.904+5G>T	rs587782702	0.00001
NM_058216.3(RAD51C):c.905-2A>C	rs779582317	0.00001
NM_058216.3(RAD51C):c.905-2_905-1del	rs587781995	0.00001
NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln)	rs779834376	0.00001
NM_078470.6(COX15):c.305G>A (p.Trp102Ter)	rs778412019	0.00001
NM_080424.4(SP110):c.1891C>T (p.Arg631Ter)	rs1011767398	0.00001
NM_130839.5(UBE3A):c.2415T>C (p.Phe805=)	rs587780991	0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met)	rs730882213	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.11630del (p.Leu3877fs)	rs747170980	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.11946T>A (p.Cys3982Ter)	rs1207597891	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.1964+1G>T	rs1385712943	0.00001
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys)	rs794727366	0.00001
NM_138694.4(PKHD1):c.2171C>G (p.Pro724Arg)	rs1229139298	0.00001
NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser)	rs727504090	0.00001
NM_138694.4(PKHD1):c.2310dup (p.Ser771fs)	rs767737392	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.3383T>C (p.Ile1128Thr)	rs78624439	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.428A>G (p.Tyr143Cys)	rs141093030	0.00001
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr)	rs794727566	0.00001
NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser)	rs761046498	0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met)	rs137852946	0.00001
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter)	rs774759689	0.00001
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys)	rs777999875	0.00001
NM_138694.4(PKHD1):c.5751+3A>G	rs1581726525	0.00001
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser)	rs749454235	0.00001
NM_138694.4(PKHD1):c.707+1G>A	rs748365248	0.00001
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr)	rs398124492	0.00001
NM_138694.4(PKHD1):c.7350+653A>G	rs1240212722	0.00001
NM_138694.4(PKHD1):c.7486G>A (p.Gly2496Ser)	rs747745685	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.8555-2A>C	rs1020621286	0.00001
NM_138694.4(PKHD1):c.8629del (p.Ser2877fs)	rs779168950	0.00001
NM_138694.4(PKHD1):c.881-1G>A	rs1554220431	0.00001
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter)	rs765020336	0.00001
NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter)	rs757946548	0.00001
NM_138694.4(PKHD1):c.9308G>A (p.Gly3103Asp)	rs753264751	0.00001
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)	rs786204688	0.00001
NM_138694.4(PKHD1):c.9464A>G (p.Tyr3155Cys)	rs957419550	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_138775.3(ALKBH8):c.982C>T (p.Arg328Ter)	rs1315421427	0.00001
NM_144997.7(FLCN):c.1022G>A (p.Arg341Gln)	rs375352888	0.00001
NM_144997.7(FLCN):c.1193G>C (p.Gly398Ala)	rs766801011	0.00001
NM_144997.7(FLCN):c.1199T>C (p.Val400Ala)	rs760079073	0.00001
NM_144997.7(FLCN):c.1363G>A (p.Glu455Lys)	rs759637055	0.00001
NM_144997.7(FLCN):c.278C>T (p.Pro93Leu)	rs766548696	0.00001
NM_144997.7(FLCN):c.703G>A (p.Gly235Ser)	rs200693409	0.00001
NM_144997.7(FLCN):c.791C>T (p.Ala264Val)	rs372304384	0.00001
NM_144997.7(FLCN):c.958C>T (p.Arg320Trp)	rs777456756	0.00001
NM_145207.3(AFG2A):c.164-4A>G	rs752411823	0.00001
NM_152383.5(DIS3L2):c.1096G>T (p.Glu366Ter)	rs760123810	0.00001
NM_152383.5(DIS3L2):c.1162C>T (p.Arg388Ter)	rs766629924	0.00001
NM_152383.5(DIS3L2):c.127C>T (p.Arg43Ter)	rs762653147	0.00001
NM_152383.5(DIS3L2):c.1983del (p.Thr662fs)	rs1395962146	0.00001
NM_152383.5(DIS3L2):c.2170C>T (p.Arg724Ter)	rs773260717	0.00001
NM_152393.4(KLHL40):c.1489C>T (p.Gln497Ter)	rs1697319878	0.00001
NM_152443.3(RDH12):c.133A>G (p.Thr45Ala)	rs1225487694	0.00001
NM_152443.3(RDH12):c.193C>T (p.Arg65Ter)	rs778571042	0.00001
NM_152443.3(RDH12):c.446T>C (p.Leu149Pro)	rs747257567	0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile)	rs121434337	0.00001
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln)	rs971610277	0.00001
NM_152443.3(RDH12):c.580dup (p.Tyr194fs)	rs2140145502	0.00001
NM_152443.3(RDH12):c.619A>G (p.Asn207Asp)	rs745871149	0.00001
NM_152443.3(RDH12):c.671C>T (p.Thr224Ile)	rs200302290	0.00001
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys)	rs28940313	0.00001
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg)	rs878853339	0.00001
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter)	rs1381368546	0.00001
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter)	rs1269565757	0.00001
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala)	rs1357690062	0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)	rs752202089	0.00001
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro)	rs121918328	0.00001
NM_153006.3(NAGS):c.1268+2T>C	rs202041339	0.00001
NM_153603.4(COG7):c.1717C>T (p.Arg573Trp)	rs548129734	0.00001
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter)	rs377145777	0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)	rs200466188	0.00001
NM_170784.3(MKKS):c.1436C>G (p.Ser479Ter)	rs753180214	0.00001
NM_170784.3(MKKS):c.155G>A (p.Gly52Asp)	rs28937875	0.00001
NM_170784.3(MKKS):c.169A>G (p.Thr57Ala)	rs74315399	0.00001
NM_170784.3(MKKS):c.29C>A (p.Ser10Ter)	rs758356262	0.00001
NM_170784.3(MKKS):c.837del (p.Gly280fs)	rs776004321	0.00001
NM_172250.3(MMAA):c.1076G>A (p.Arg359Gln)	rs864309731	0.00001
NM_172250.3(MMAA):c.365T>C (p.Leu122Pro)	rs760875006	0.00001
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln)	rs200577967	0.00001
NM_172250.3(MMAA):c.733+1G>A	rs779939886	0.00001
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg)	rs758131044	0.00001
NM_174936.4(PCSK9):c.386A>G (p.Asp129Gly)	rs1553135971	0.00001
NM_174936.4(PCSK9):c.643C>T (p.Arg215Cys)	rs753505066	0.00001
NM_176787.5(PIGN):c.1434+5G>A	rs369486176	0.00001
NM_176787.5(PIGN):c.163C>T (p.Arg55Ter)	rs768412580	0.00001
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter)	rs151275562	0.00001
NM_182649.2(PCNA):c.683G>T (p.Ser228Ile)	rs369958038	0.00001
NM_182760.4(SUMF1):c.818A>G (p.Asp273Gly)	rs772711848	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.410C>T (p.Ala137Val)	rs776631396	0.00001
NM_183050.4(BCKDHB):c.583dup (p.Tyr195fs)	rs1772747408	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_183235.3(RAB27A):c.244C>T (p.Arg82Cys)	rs753966933	0.00001
NM_198576.4(AGRN):c.5023G>A (p.Gly1675Ser)	rs764160563	0.00001
NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro)	rs769909288	0.00001
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)	rs1271816211	0.00001
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro)	rs1451348539	0.00001
NM_201253.3(CRB1):c.2842+5G>A	rs773914330	0.00001
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro)	rs62636276	0.00001
NM_201548.5(CERKL):c.1074-1G>C	rs927261937	0.00001
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter)	rs1187839124	0.00001
NM_201548.5(CERKL):c.356G>A (p.Gly119Asp)	rs1003615909	0.00001
NM_201548.5(CERKL):c.613+4_613+5del	rs766131721	0.00001
NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser)	rs1057519455	0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)	rs202175091	0.00001
NM_206933.4(USH2A):c.10859T>C (p.Ile3620Thr)	rs779716464	0.00001
NM_206933.4(USH2A):c.11389+3A>T	rs753886165	0.00001
NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp)	rs1431048303	0.00001
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter)	rs397517976	0.00001
NM_206933.4(USH2A):c.12152_12153insTT (p.Glu4051fs)	rs1064793289	0.00001
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp)	rs759898765	0.00001
NM_206933.4(USH2A):c.12580T>C (p.Cys4194Arg)	rs769001387	0.00001
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)	rs111033385	0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)	rs753330544	0.00001
NM_206933.4(USH2A):c.13811+1G>A	rs1177257719	0.00001
NM_206933.4(USH2A):c.14285A>G (p.Asn4762Ser)	rs1254637647	0.00001
NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg)	rs199851839	0.00001
NM_206933.4(USH2A):c.14546G>A (p.Trp4849Ter)	rs1656936749	0.00001
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)	rs397517994	0.00001
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr)	rs1393503590	0.00001
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)	rs483353054	0.00001
NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter)	rs886039449	0.00001
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu)	rs751479180	0.00001
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg)	rs139311927	0.00001
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter)	rs745350407	0.00001
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)	rs1461319754	0.00001
NM_206933.4(USH2A):c.5278del (p.Asp1760fs)	rs754374132	0.00001
NM_206933.4(USH2A):c.5572+1G>A	rs775293551	0.00001
NM_206933.4(USH2A):c.5776+1G>A	rs876657731	0.00001
NM_206933.4(USH2A):c.6050-1G>A	rs1035024403	0.00001
NM_206933.4(USH2A):c.6083A>G (p.Tyr2028Cys)	rs756571385	0.00001
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter)	rs1485173724	0.00001
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)	rs201863550	0.00001
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter)	rs1064797134	0.00001
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)	rs397518041	0.00001
NM_206933.4(USH2A):c.9258+1G>A	rs748810737	0.00001
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter)	rs772100045	0.00001
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)	rs111033263	0.00001
NM_207122.2(EXT2):c.1305+2T>C	rs202153611	0.00001
NM_207122.2(EXT2):c.415G>A (p.Asp139Asn)	rs1038984851	0.00001
NM_207122.2(EXT2):c.656C>T (p.Thr219Met)	rs202208526	0.00001
NC_000011.10:g.2171856C>T	rs1372180906
NM_000016.6(ACADM):c.1010A>C (p.Tyr337Ser)	rs1323513432
NM_000016.6(ACADM):c.1040G>T (p.Gly347Val)	rs1648832398
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs)	rs387906297
NM_000016.6(ACADM):c.1207A>G (p.Thr403Ala)	rs1462472677
NM_000016.6(ACADM):c.1221_1222del (p.Arg408fs)	rs875989860
NM_000016.6(ACADM):c.1229T>C (p.Ile410Thr)	rs1361089796
NM_000016.6(ACADM):c.1237C>A (p.Arg413Ser)	rs139686925
NM_000016.6(ACADM):c.1250_1256del (p.Asp417fs)	rs2525706936
NM_000016.6(ACADM):c.165del (p.Phe55fs)	rs1319192670
NM_000016.6(ACADM):c.217-1G>A	rs1570861829
NM_000016.6(ACADM):c.217-2A>G	rs1647169738
NM_000016.6(ACADM):c.224del (p.Val75fs)	rs1057516480
NM_000016.6(ACADM):c.24C>A (p.Cys8Ter)	rs2100332723
NM_000016.6(ACADM):c.260T>C (p.Met87Thr)	rs767649048
NM_000016.6(ACADM):c.287-2A>G	rs1057518677
NM_000016.6(ACADM):c.30+1G>C	rs1647021342
NM_000016.6(ACADM):c.306_307insG (p.Phe103fs)	rs2100365750
NM_000016.6(ACADM):c.322_325del (p.Ile108fs)	rs875989873
NM_000016.6(ACADM):c.346T>G (p.Cys116Gly)	rs875989863
NM_000016.6(ACADM):c.355dup (p.Val119fs)	rs1553123071
NM_000016.6(ACADM):c.383dup (p.Leu128fs)	rs1647189225
NM_000016.6(ACADM):c.387+1del	rs786204424
NM_000016.6(ACADM):c.387+2T>C	rs2525578687
NM_000016.6(ACADM):c.388-19T>A	rs1553123252
NM_000016.6(ACADM):c.397ATT[2] (p.Ile135del)	rs1570866192
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del)	rs875989857
NM_000016.6(ACADM):c.437del (p.Leu146fs)	rs749529577
NM_000016.6(ACADM):c.449_452del (p.Thr150fs)	rs786204642
NM_000016.6(ACADM):c.461T>G (p.Leu154Trp)	rs1553123263
NM_000016.6(ACADM):c.468+1G>A	rs776498263
NM_000016.6(ACADM):c.472T>C (p.Tyr158His)	rs1570876467
NM_000016.6(ACADM):c.47del (p.Ser16fs)	rs1325949559
NM_000016.6(ACADM):c.526G>A (p.Ala176Thr)	rs200754053
NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del)	rs1553123869
NM_000016.6(ACADM):c.542A>G (p.Asp181Gly)	rs1553123872
NM_000016.6(ACADM):c.554T>C (p.Ile185Thr)	rs1647480996
NM_000016.6(ACADM):c.567del (p.Met190fs)	rs1309892323
NM_000016.6(ACADM):c.577A>G (p.Thr193Ala)	rs121434279
NM_000016.6(ACADM):c.603T>A (p.Tyr201Ter)	rs992092720
NM_000016.6(ACADM):c.613G>C (p.Ala205Pro)	rs1324329442
NM_000016.6(ACADM):c.617G>T (p.Arg206Leu)	rs200724875
NM_000016.6(ACADM):c.67C>T (p.Gln23Ter)	rs1570851702
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn)	rs149678400
NM_000016.6(ACADM):c.778_782del (p.Glu260fs)	rs2100417619
NM_000016.6(ACADM):c.817_829del (p.Ala273fs)	rs875989872
NM_000016.6(ACADM):c.890A>G (p.Asp297Gly)	rs1293309607
NM_000016.6(ACADM):c.927del (p.Phe309fs)	rs1557458562
NM_000016.6(ACADM):c.957_958del (p.Ser320fs)	rs1057517103
NM_000016.6(ACADM):c.959C>A (p.Ser320Ter)	rs1057516485
NM_000016.6(ACADM):c.982A>G (p.Met328Val)	rs1648825926
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter)	rs1225471006
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro)	rs777002501
NM_000018.3(ACADVL):c.1375dup	rs796051916
NM_000018.4(ACADVL):c.1013_1016del (p.Asn338fs)	rs2508318485
NM_000018.4(ACADVL):c.103_112del (p.Pro35fs)	rs1329022268
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.1103A>C (p.Gln368Pro)	rs776063244
NM_000018.4(ACADVL):c.1141_1143del (p.Glu381del)	rs1057517281
NM_000018.4(ACADVL):c.1145del (p.Lys382fs)	rs1281137823
NM_000018.4(ACADVL):c.1168C>T (p.Gln390Ter)	rs2508330212
NM_000018.4(ACADVL):c.1241A>C (p.Glu414Ala)	rs1597534120
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr)	rs118204018
NM_000018.4(ACADVL):c.1269+1G>A	rs773401248
NM_000018.4(ACADVL):c.1276G>A (p.Ala426Thr)	rs1419478766
NM_000018.4(ACADVL):c.128del (p.Gly43fs)	rs2071123075
NM_000018.4(ACADVL):c.1309A>G (p.Met437Val)	rs2071345754
NM_000018.4(ACADVL):c.1310T>C (p.Met437Thr)	rs2071345821
NM_000018.4(ACADVL):c.1313G>A (p.Gly438Glu)	rs748450834
NM_000018.4(ACADVL):c.1316dup (p.Met440fs)	rs748077880
NM_000018.4(ACADVL):c.1317dup (p.Met440fs)	rs1567567440
NM_000018.4(ACADVL):c.1318_1319dup (p.Met440fs)	rs2508345221
NM_000018.4(ACADVL):c.1389dup (p.Thr464fs)	rs398123082
NM_000018.4(ACADVL):c.139-1G>C	rs1597518019
NM_000018.4(ACADVL):c.1522C>T (p.Gln508Ter)	rs2071366876
NM_000018.4(ACADVL):c.1532+2T>C	rs111851815
NM_000018.4(ACADVL):c.1593dup (p.Ser532fs)	rs1060499596
NM_000018.4(ACADVL):c.1630_1645del (p.Ala544fs)	rs1131691553
NM_000018.4(ACADVL):c.1678+1G>T	rs113235875
NM_000018.4(ACADVL):c.1682_1701del (p.Glu561fs)	rs2508366072
NM_000018.4(ACADVL):c.175_182del (p.Ala59fs)	rs1354996048
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.1808del (p.Cys603fs)	rs2142990894
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter)	rs1057520507
NM_000018.4(ACADVL):c.1878G>A (p.Trp626Ter)	rs1555529186
NM_000018.4(ACADVL):c.192del (p.Lys64fs)	rs771055189
NM_000018.4(ACADVL):c.192dup (p.Pro65fs)	rs771055189
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter)	rs765432568
NM_000018.4(ACADVL):c.260T>C (p.Val87Ala)	rs796051907
NM_000018.4(ACADVL):c.265C>T (p.Pro89Ser)	rs2508253534
NM_000018.4(ACADVL):c.266del (p.Pro89fs)	rs771808680
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs)	rs786204713
NM_000018.4(ACADVL):c.307_323dup (p.Val109fs)	rs1597520263
NM_000018.4(ACADVL):c.308_309del (p.Lys103fs)	rs1057516979
NM_000018.4(ACADVL):c.335del (p.Phe112fs)	rs764028320
NM_000018.4(ACADVL):c.343del	rs387906249
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)	rs387906251
NM_000018.4(ACADVL):c.421dup (p.Ala141fs)	rs2071185652
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.481G>A (p.Ala161Thr)	rs375284481
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del)	rs796051920
NM_000018.4(ACADVL):c.515T>C (p.Leu172Pro)	rs1597524963
NM_000018.4(ACADVL):c.595_598del (p.Glu199fs)	rs2508284530
NM_000018.4(ACADVL):c.604C>G (p.Leu202Val)	rs2071234346
NM_000018.4(ACADVL):c.604del (p.Leu202fs)	rs757409401
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro)	rs768975918
NM_000018.4(ACADVL):c.62+1G>A	rs2071111529
NM_000018.4(ACADVL):c.626dup (p.Thr210fs)	rs2142976531
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer)	rs1057516714
NM_000018.4(ACADVL):c.688dup (p.Thr230fs)	rs2071255080
NM_000018.4(ACADVL):c.689C>T (p.Thr230Ile)	rs1241935771
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs)	rs1555528304
NM_000018.4(ACADVL):c.733G>T (p.Gly245Ter)	rs2508299927
NM_000018.4(ACADVL):c.753-2A>G	rs398123092
NM_000018.4(ACADVL):c.799_802del (p.Val267fs)	rs761204548
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)	rs796051913
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del)	rs769280599
NM_000018.4(ACADVL):c.869dup (p.Ile291fs)	rs886044671
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del)	rs387906252
NM_000018.4(ACADVL):c.926_927del (p.Glu309fs)	rs2071289046
NM_000018.4(ACADVL):c.932del (p.Phe311fs)	rs764488310
NM_000018.4(ACADVL):c.996del (p.Ala333fs)	rs1057516843
NM_000018.4(ACADVL):c.996dup (p.Ala333fs)	rs1057516843
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del)	rs387906282
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter)	rs1367121673
NM_000019.4(ACAT1):c.1114C>T (p.Gln372Ter)	rs2134791667
NM_000019.4(ACAT1):c.1189C>G (p.His397Asp)	rs746332363
NM_000019.4(ACAT1):c.134dup (p.Ser46fs)	rs1444451434
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del)	rs866364527
NM_000019.4(ACAT1):c.30del (p.Ser10fs)	rs1565281236
NM_000019.4(ACAT1):c.378_379del (p.Ala127fs)	rs2135341631
NM_000019.4(ACAT1):c.491_495del (p.Asn164fs)	rs2135356039
NM_000019.4(ACAT1):c.537del (p.Ile179fs)	rs1415293773
NM_000019.4(ACAT1):c.571del (p.Ile191fs)	rs761038005
NM_000019.4(ACAT1):c.649_652del (p.Asn217fs)	rs764568533
NM_000019.4(ACAT1):c.64_72+10del	rs1318268067
NM_000019.4(ACAT1):c.716_717del (p.Thr239fs)	rs2496622561
NM_000019.4(ACAT1):c.730+2T>C	rs398123096
NM_000019.4(ACAT1):c.733C>T (p.Gln245Ter)	rs2134768525
NM_000019.4(ACAT1):c.806_807del (p.Thr269fs)	rs1476922493
NM_000019.4(ACAT1):c.824del (p.Asn275fs)	rs1163072872
NM_000019.4(ACAT1):c.83_84del (p.Tyr28fs)	rs749873354
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met)	rs886041122
NM_000019.4(ACAT1):c.905del (p.Lys302fs)	rs398123097
NM_000020.3(ACVRL1):c.1199C>A (p.Ala400Asp)	rs2139076990
NM_000022.4(ADA):c.201C>G (p.Tyr67Ter)	rs1419063255
NM_000022.4(ADA):c.219-2A>G	rs387906267
NM_000022.4(ADA):c.311C>T (p.Pro104Leu)	rs1452483770
NM_000022.4(ADA):c.366_367del (p.Asp123fs)	rs758073965
NM_000022.4(ADA):c.385G>A (p.Val129Met)	rs121908731
NM_000022.4(ADA):c.396dup (p.Val133fs)	rs1555844617
NM_000022.4(ADA):c.412C>T (p.Gln138Ter)	rs1323402380
NM_000022.4(ADA):c.478+6T>A	rs1555844600
NM_000022.4(ADA):c.516C>A (p.Tyr172Ter)	rs748810619
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.577dup (p.Leu193fs)	rs759445496
NM_000022.4(ADA):c.603C>A (p.Tyr201Ter)	rs1555844395
NM_000022.4(ADA):c.690dup (p.Leu231fs)	rs2065346614
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.854dup (p.Asn285fs)	rs2123511347
NM_000022.4(ADA):c.956_960del (p.Glu319fs)	rs771266745
NM_000022.4(ADA):c.976-1_979del	rs1441174171
NM_000023.4(SGCA):c.1025_1026del (p.Glu342fs)	rs2509133581
NM_000023.4(SGCA):c.1039_1042dup (p.Ala348fs)	rs1598277713
NM_000023.4(SGCA):c.132_135dup (p.Leu46fs)	rs2144493427
NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter)	rs766400853
NM_000023.4(SGCA):c.203del (p.Gly68fs)	rs1567739228
NM_000023.4(SGCA):c.229dup (p.Arg77fs)	rs1342319346
NM_000023.4(SGCA):c.236_237insA (p.Gln80fs)	rs1567739339
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys)	rs398123098
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)
NM_000023.4(SGCA):c.37+2C>G	rs112500642
NM_000023.4(SGCA):c.377dup (p.Asp126fs)	rs1905070544
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)	rs780264754
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)	rs372210292
NM_000023.4(SGCA):c.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.596del (p.Lys199fs)	rs2509123048
NM_000023.4(SGCA):c.70C>T (p.Gln24Ter)	rs2144493135
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)	rs200166783
NM_000023.4(SGCA):c.747+1G>A	rs886043392
NM_000023.4(SGCA):c.754_755del (p.Lys252fs)	rs1057517377
NM_000023.4(SGCA):c.801dup (p.Ile268fs)	rs1905256830
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs)	rs1555569329
NM_000023.4(SGCA):c.957-1G>T	rs2144502043
NM_000023.4(SGCA):c.95T>C (p.Val32Ala)	rs1017592342
NM_000026.4(ADSL):c.502G>A (p.Val168Ile)	rs1385675650
NM_000027.4(AGA):c.179G>A (p.Gly60Asp)	rs121964907
NM_000027.4(AGA):c.192del (p.Cys64fs)	rs1553994830
NM_000027.4(AGA):c.198_201del (p.Arg66fs)	rs386833420
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.329del (p.Asn110fs)	rs764357395
NM_000027.4(AGA):c.333del (p.Ile112fs)	rs1057517223
NM_000027.4(AGA):c.346C>T (p.Arg116Trp)	rs386833423
NM_000027.4(AGA):c.365C>A (p.Thr122Lys)	rs771563230
NM_000027.4(AGA):c.367_371del (p.Thr123fs)	rs1736928101
NM_000027.4(AGA):c.375_376del (p.Leu126fs)	rs386833425
NM_000027.4(AGA):c.389_390del (p.Glu130fs)	rs2476870897
NM_000027.4(AGA):c.52C>T (p.Gln18Ter)	rs201701066
NM_000027.4(AGA):c.537C>A (p.Cys179Ter)	rs748171793
NM_000027.4(AGA):c.595G>T (p.Glu199Ter)	rs370078048
NM_000027.4(AGA):c.698+1G>T	rs1057517175
NM_000027.4(AGA):c.755G>A (p.Gly252Glu)	rs386833433
NM_000027.4(AGA):c.916T>C (p.Cys306Arg)	rs121964906
NM_000030.3(AGXT):c.1007T>A (p.Val336Asp)	rs180177155
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)	rs180177156
NM_000030.3(AGXT):c.1161C>A (p.Cys387Ter)	rs2528766716
NM_000030.3(AGXT):c.126del (p.Leu43fs)	rs180177171
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg)	rs180177197
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)	rs34116584
NM_000030.3(AGXT):c.33del (p.Lys12fs)	rs180177201
NM_000030.3(AGXT):c.423+1G>A	rs1553648493
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu)	rs180177225
NM_000030.3(AGXT):c.517T>C (p.Cys173Arg)	rs2106428650
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr)	rs180177235
NM_000030.3(AGXT):c.577del (p.Leu193fs)	rs180177241
NM_000030.3(AGXT):c.662_664del (p.Ser221del)	rs796052071
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter)	rs180177259
NM_000030.3(AGXT):c.751_752delinsAA (p.Trp251Lys)	rs796052072
NM_000030.3(AGXT):c.807dup (p.Tyr270fs)	rs2528758339
NM_000030.3(AGXT):c.847-1G>C	rs180177285
NM_000030.3(AGXT):c.943-1G>T	rs180177298
NM_000030.3(AGXT):c.976del (p.Val326fs)	rs180177301
NM_000030.3(AGXT):c.983_988del (p.Ala328_Tyr330delinsAsp)	rs180177302
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro)	rs1557054173
NM_000033.4(ABCD1):c.1172_1175del (p.Leu391fs)	rs2091749146
NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter)	rs2522298866
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr)	rs1557055316
NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del)	rs1603231784
NM_000033.4(ABCD1):c.317_320del (p.Phe106fs)	rs2148388986
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys)	rs1569540695
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)	rs1131691916
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)	rs1569540704
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)	rs193922098
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)	rs781904944
NM_000035.4(ALDOB):c.1000-1_1006delinsTG	rs2118333206
NM_000035.4(ALDOB):c.113-1G>C	rs748663340
NM_000035.4(ALDOB):c.113-1_115del	rs786204598
NM_000035.4(ALDOB):c.302del (p.Lys101fs)	rs974582114
NM_000035.4(ALDOB):c.324+1G>A	rs764826805
NM_000035.4(ALDOB):c.324+2T>A	rs1057516379
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)	rs387906225
NM_000035.4(ALDOB):c.379+1G>A	rs138121153
NM_000035.4(ALDOB):c.420del (p.Asp141fs)	rs1057517421
NM_000035.4(ALDOB):c.43del (p.Glu15fs)	rs1831209087
NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter)	rs1057516902
NM_000035.4(ALDOB):c.469C>T (p.Gln157Ter)	rs1831149748
NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter)	rs370793608
NM_000035.4(ALDOB):c.61C>T (p.Gln21Ter)	rs2118366288
NM_000035.4(ALDOB):c.625-2A>G	rs786204503
NM_000035.4(ALDOB):c.673del (p.Glu225fs)	rs758133069
NM_000035.4(ALDOB):c.742C>T (p.Gln248Ter)	rs1163091441
NM_000035.4(ALDOB):c.761dup (p.Thr255fs)	rs2118345550
NM_000035.4(ALDOB):c.865del (p.Leu289fs)	rs864309533
NM_000035.4(ALDOB):c.888G>A (p.Trp296Ter)	rs1057517133
NM_000038.6(APC):c.1191_1192dup (p.Lys398fs)	rs2149782311
NM_000038.6(APC):c.1312+1G>A	rs863225310
NM_000038.6(APC):c.1312+3A>G	rs863225311
NM_000038.6(APC):c.1312+5G>A	rs886039507
NM_000038.6(APC):c.1879_1880del (p.Asn627fs)	rs2533339978
NM_000038.6(APC):c.203del (p.Leu68fs)	rs1756331894
NM_000038.6(APC):c.221-1G>C	rs863225327
NM_000038.6(APC):c.2396_2397del (p.Tyr799fs)	rs2533418190
NM_000038.6(APC):c.2907_2911dup (p.Asp971fs)	rs2533458377
NM_000038.6(APC):c.3224del (p.Tyr1075fs)	rs1765368708
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter)	rs121913331
NM_000038.6(APC):c.3629A>T (p.His1210Leu)	rs756346998
NM_000038.6(APC):c.3642del (p.Ser1214fs)	rs2149896180
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.4145del (p.Leu1382fs)	rs2149907596
NM_000038.6(APC):c.420G>C (p.Glu140Asp)	rs202161017
NM_000038.6(APC):c.423-3T>A	rs587782293
NM_000038.6(APC):c.423-3_423-2del	rs863225354
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly)	rs138367627
NM_000038.6(APC):c.476dup (p.Tyr159Ter)	rs878853451
NM_000038.6(APC):c.503del (p.Arg168fs)	rs2149615791
NM_000038.6(APC):c.531+1G>C	rs876659973
NM_000038.6(APC):c.532-1G>A	rs1554072547
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup)	rs587780602
NM_000038.6(APC):c.637C>T (p.Arg213Ter)	rs587781392
NM_000038.6(APC):c.645+1G>T	rs863225370
NM_000038.6(APC):c.6652C>T (p.Gln2218Ter)	rs2149969843
NM_000038.6(APC):c.694C>T (p.Arg232Ter)	rs397515734
NM_000038.6(APC):c.7054A>G (p.Ser2352Gly)	rs764311778
NM_000038.6(APC):c.7079G>A (p.Gly2360Asp)	rs750960862
NM_000038.6(APC):c.7135dup (p.Thr2379fs)	rs2533771159
NM_000038.6(APC):c.7300del (p.Arg2434fs)	rs2533783025
NM_000038.6(APC):c.7395_7398del (p.Ser2466fs)	rs1580682001
NM_000038.6(APC):c.7467_7468dup (p.Asp2490fs)	rs1554088383
NM_000038.6(APC):c.7477_7478del (p.Leu2493fs)	rs1554088391
NM_000038.6(APC):c.7489dup (p.Ser2497fs)	rs1409414498
NM_000038.6(APC):c.7511G>A (p.Trp2504Ter)	rs755046558
NM_000038.6(APC):c.7513C>T (p.Arg2505Ter)	rs79630786
NM_000038.6(APC):c.7678C>T (p.Arg2560Ter)	rs1580685528
NM_000038.6(APC):c.7798_7801del (p.Gln2600fs)	rs1561618361
NM_000038.6(APC):c.7849_7853del (p.Lys2616_Glu2617insTer)	rs1309569258
NM_000038.6(APC):c.7928dup (p.Ile2644fs)	rs2533830101
NM_000038.6(APC):c.878del (p.Ser293fs)	rs1580511939
NM_000038.6(APC):c.904C>T (p.Arg302Ter)	rs137854568
NM_000044.6(AR):c.2086G>A (p.Asp696Asn)	rs1555995840
NM_000045.4(ARG1):c.23T>A (p.Ile8Lys)	rs149310631
NM_000045.4(ARG1):c.272dup (p.Arg92fs)	rs796051923
NM_000045.4(ARG1):c.2T>C (p.Met1Thr)	rs1554249332
NM_000045.4(ARG1):c.32T>C (p.Ile11Thr)	rs28941474
NM_000045.4(ARG1):c.341_344dup (p.Asp117fs)	rs2482368714
NM_000045.4(ARG1):c.366G>A (p.Trp122Ter)	rs2114539596
NM_000045.4(ARG1):c.404C>T (p.Thr135Ile)	rs1451472748
NM_000045.4(ARG1):c.435_438dup (p.Phe147fs)	rs2482369953
NM_000045.4(ARG1):c.466-2A>G	rs1554251045
NM_000045.4(ARG1):c.492G>A (p.Trp164Ter)	rs146625637
NM_000045.4(ARG1):c.679dup (p.Ile227fs)	rs1774036379
NM_000045.4(ARG1):c.707dup (p.Asp237fs)	rs2482386783
NM_000045.4(ARG1):c.75A>G (p.Glu25=)	rs755973004
NM_000045.4(ARG1):c.815del (p.Gly272fs)	rs1774059448
NM_000045.4(ARG1):c.913G>A (p.Gly305Arg)	rs866970619
NM_000045.4(ARG1):c.938del (p.Lys313fs)	rs1554251356
NM_000046.5(ARSB):c.1060_1061del (p.Leu354fs)	rs1219483069
NM_000046.5(ARSB):c.108_120del (p.Ser37fs)	rs1028653411
NM_000046.5(ARSB):c.113del (p.Gly38fs)	rs1349838988
NM_000046.5(ARSB):c.1143-1G>A	rs431905495
NM_000046.5(ARSB):c.1178A>G (p.His393Arg)	rs118203944
NM_000046.5(ARSB):c.118_134del (p.Gly40fs)	rs398123123
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu)	rs200793396
NM_000046.5(ARSB):c.1214-2A>T	rs1554069808
NM_000046.5(ARSB):c.121dup (p.Ala41fs)	rs1561197865
NM_000046.5(ARSB):c.123_139dup (p.Leu47fs)	rs766772376
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter)	rs1355071930
NM_000046.5(ARSB):c.1314G>A (p.Trp438Ter)	rs2478822503
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)	rs1057520739
NM_000046.5(ARSB):c.1493T>C (p.Leu498Pro)	rs774358117
NM_000046.5(ARSB):c.1507C>T (p.Gln503Ter)	rs771113472
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs)	rs1310996698
NM_000046.5(ARSB):c.157G>A (p.Asp53Asn)	rs1554032217
NM_000046.5(ARSB):c.171G>C (p.Trp57Cys)	rs1554032205
NM_000046.5(ARSB):c.173del (p.Asn58fs)	rs1180759765
NM_000046.5(ARSB):c.237_243del (p.Val80fs)	rs1554032134
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg)	rs749465732
NM_000046.5(ARSB):c.275C>A (p.Thr92Lys)	rs751010538
NM_000046.5(ARSB):c.312+2T>G	rs2530666598
NM_000046.5(ARSB):c.323G>T (p.Gly108Val)	rs768802200
NM_000046.5(ARSB):c.438G>A (p.Trp146Ter)	rs757061042
NM_000046.5(ARSB):c.797A>C (p.Tyr266Ser)	rs1554086402
NM_000046.5(ARSB):c.823G>T (p.Glu275Ter)	rs1580121683
NM_000046.5(ARSB):c.898+1G>A	rs1751669303
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg)	rs779378413
NM_000046.5(ARSB):c.904_905inv (p.Gly302Pro)
NM_000046.5(ARSB):c.908G>A (p.Gly303Glu)	rs1408739927
NM_000046.5(ARSB):c.937C>T (p.Pro313Ser)	rs749989641
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter)	rs891298440
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg)	rs762614315
NM_000046.5(ARSB):c.982G>A (p.Gly328Arg)	rs748454316
NM_000048.4(ASL):c.111_133del (p.Asp38fs)	rs1554326267
NM_000048.4(ASL):c.1143+1G>T	rs2485028634
NM_000048.4(ASL):c.1193C>A (p.Ala398Asp)	rs770167670
NM_000048.4(ASL):c.1297A>C (p.Ser433Arg)	rs1554328459
NM_000048.4(ASL):c.348+1G>A	rs2115698756
NM_000048.4(ASL):c.509G>A (p.Ser170Asn)	rs1180650883
NM_000048.4(ASL):c.556C>T (p.Arg186Trp)	rs111407265
NM_000048.4(ASL):c.603-1G>C	rs1584028936
NM_000048.4(ASL):c.614C>T (p.Ala205Val)	rs796051925
NM_000048.4(ASL):c.617G>T (p.Gly206Val)	rs760559303
NM_000048.4(ASL):c.631_647del (p.Val211fs)	rs1554327181
NM_000048.4(ASL):c.735G>A (p.Trp245Ter)	rs1554327573
NM_000048.4(ASL):c.834-1G>A	rs768722904
NM_000048.4(ASL):c.974T>G (p.Leu325Ter)	rs756339957
NM_000049.4(ASPA):c.101G>A (p.Trp34Ter)	rs2150741763
NM_000049.4(ASPA):c.147dup (p.Pro50fs)	rs1597422432
NM_000049.4(ASPA):c.169G>A (p.Ala57Thr)	rs2150741844
NM_000049.4(ASPA):c.244dup (p.Met82fs)	rs756198538
NM_000049.4(ASPA):c.245del (p.Met82fs)	rs1057516962
NM_000049.4(ASPA):c.283G>T (p.Glu95Ter)	rs2543619356
NM_000049.4(ASPA):c.321_322del (p.Ser108fs)	rs1289890879
NM_000049.4(ASPA):c.358_361del (p.Ser120fs)	rs2073633067
NM_000049.4(ASPA):c.382del (p.Glu129fs)	rs1555538825
NM_000049.4(ASPA):c.40del (p.Val14fs)	rs2543606405
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.454T>C (p.Cys152Arg)	rs104894548
NM_000049.4(ASPA):c.465T>G (p.Tyr155Ter)	rs2543624449
NM_000049.4(ASPA):c.548C>A (p.Pro183His)	rs1555539857
NM_000049.4(ASPA):c.609del (p.Asp204fs)	rs1597439149
NM_000049.4(ASPA):c.610G>C (p.Asp204His)	rs2543636344
NM_000049.4(ASPA):c.635-1G>C	rs2543647908
NM_000049.4(ASPA):c.71A>G (p.Glu24Gly)	rs104894551
NM_000049.4(ASPA):c.744+1G>A	rs2073877472
NM_000049.4(ASPA):c.876_879del (p.Glu293fs)	rs766720790
NM_000049.4(ASPA):c.885dup (p.Ala296fs)	rs2543658211
NM_000051.3(ATM):c.2839-579_2839-576del	rs587776552
NM_000051.4(ATM):c.-30-1G>T	rs869312754
NM_000051.4(ATM):c.1017del (p.Ile339fs)	rs1469427343
NM_000051.4(ATM):c.1045_1052del (p.Met349fs)	rs1565375817
NM_000051.4(ATM):c.1065+1G>T	rs201089102
NM_000051.4(ATM):c.1066-2A>G	rs1555069514
NM_000051.4(ATM):c.1076_1096delinsTGTAAGG (p.Glu359_Ile366delinsValTer)	rs2497207173
NM_000051.4(ATM):c.1165del (p.Lys388_Ile389insTer)	rs2497211032
NM_000051.4(ATM):c.121A>T (p.Lys41Ter)	rs1060501672
NM_000051.4(ATM):c.1236-2A>G	rs80159221
NM_000051.4(ATM):c.1333del (p.Gln445fs)	rs1060501701
NM_000051.4(ATM):c.1367del (p.Leu456fs)	rs1555070832
NM_000051.4(ATM):c.1435_1436del (p.Asp479fs)	rs1555070947
NM_000051.4(ATM):c.154G>T (p.Gly52Ter)	rs730881362
NM_000051.4(ATM):c.15del (p.Asn6fs)	rs876660842
NM_000051.4(ATM):c.15dup (p.Asn6Ter)	rs876660842
NM_000051.4(ATM):c.1692T>A (p.Cys564Ter)	rs886039644
NM_000051.4(ATM):c.1741_1742del (p.Leu581fs)	rs1057516721
NM_000051.4(ATM):c.1772dup (p.Asn591fs)	rs1591528248
NM_000051.4(ATM):c.1859_1860del (p.Asn619_Cys620insTer)	rs2080230745
NM_000051.4(ATM):c.1880dup (p.Gln628fs)	rs786202474
NM_000051.4(ATM):c.1882C>T (p.Gln628Ter)	rs2135354813
NM_000051.4(ATM):c.1920_1923del (p.Glu641fs)	rs1555073111
NM_000051.4(ATM):c.192del (p.Leu64fs)	rs878853490
NM_000051.4(ATM):c.1A>C (p.Met1Leu)	rs730881359
NM_000051.4(ATM):c.200A>G (p.Tyr67Cys)	rs754033733
NM_000051.4(ATM):c.2062G>T (p.Glu688Ter)	rs769338089
NM_000051.4(ATM):c.2200_2204dup (p.Ile735delinsMetTer)	rs1555074976
NM_000051.4(ATM):c.2262del (p.Gln754fs)	rs2080573967
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter)	rs730881348
NM_000051.4(ATM):c.2426C>G (p.Ser809Ter)	rs730881348
NM_000051.4(ATM):c.2456del (p.Cys819fs)	rs2135422280
NM_000051.4(ATM):c.2466+1G>A	rs914092098
NM_000051.4(ATM):c.2466+1del	rs786202783
NM_000051.4(ATM):c.2500G>T (p.Glu834Ter)	rs876660430
NM_000051.4(ATM):c.2503del (p.Glu834_Val835insTer)	rs2081303007
NM_000051.4(ATM):c.2510C>G (p.Ser837Ter)	rs2081303434
NM_000051.4(ATM):c.2524dup (p.Thr842fs)	rs1555082160
NM_000051.4(ATM):c.2583C>A (p.Tyr861Ter)	rs886039633
NM_000051.4(ATM):c.2620G>T (p.Glu874Ter)	rs1565416901
NM_000051.4(ATM):c.2638+2T>C	rs587779826
NM_000051.4(ATM):c.2667T>A (p.Tyr889Ter)	rs2081381578
NM_000051.4(ATM):c.2730_2731insAG (p.Ala911fs)	rs1064794437
NM_000051.4(ATM):c.2754del (p.Phe918fs)	rs786202608
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA	rs786202148
NM_000051.4(ATM):c.283C>T (p.Gln95Ter)	rs587781545
NM_000051.4(ATM):c.2921+1G>T	rs587781558
NM_000051.4(ATM):c.2985_2988del (p.Leu995_His996insTer)	rs1060501600
NM_000051.4(ATM):c.3043C>T (p.Gln1015Ter)	rs1555085210
NM_000051.4(ATM):c.3077+9A>G	rs2135555296
NM_000051.4(ATM):c.3077G>A (p.Trp1026Ter)	rs587782103
NM_000051.4(ATM):c.3113dup (p.Arg1039fs)	rs2497712869
NM_000051.4(ATM):c.3167C>G (p.Ser1056Ter)	rs1565428419
NM_000051.4(ATM):c.3206del (p.Pro1069fs)	rs1060501677
NM_000051.4(ATM):c.3242_3245del (p.Asn1081fs)	rs1060501587
NM_000051.4(ATM):c.3281del (p.Asn1094fs)	rs776516754
NM_000051.4(ATM):c.331+1G>A	rs1555055356
NM_000051.4(ATM):c.331+5G>A	rs752135143
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs)	rs1057516446
NM_000051.4(ATM):c.340del (p.Arg114fs)	rs2497016267
NM_000051.4(ATM):c.3422del (p.Pro1141fs)	rs2546869322
NM_000051.4(ATM):c.3480_3492dup (p.Ser1165delinsGlyPheIleLeuTer)	rs1555091238
NM_000051.4(ATM):c.3538del (p.Ser1179_Val1180insTer)	rs1555091370
NM_000051.4(ATM):c.3539_3540del (p.Val1180fs)	rs1555091367
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter)	rs886039637
NM_000051.4(ATM):c.3756_3757dup (p.Lys1253fs)	rs1555093289
NM_000051.4(ATM):c.3764T>A (p.Leu1255Ter)	rs2082374257
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)	rs587779834
NM_000051.4(ATM):c.3841del (p.Ser1281fs)	rs886039621
NM_000051.4(ATM):c.3886_3889del (p.Pro1296fs)	rs2546887130
NM_000051.4(ATM):c.3901G>T (p.Glu1301Ter)	rs2135707910
NM_000051.4(ATM):c.392C>G (p.Ser131Ter)	rs1363726955
NM_000051.4(ATM):c.3935dup (p.Glu1313fs)	rs876659672
NM_000051.4(ATM):c.3937G>T (p.Glu1313Ter)	rs3092841
NM_000051.4(ATM):c.3952del (p.Val1318fs)	rs1591646354
NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter)	rs587782192
NM_000051.4(ATM):c.3993+1G>T	rs200196781
NM_000051.4(ATM):c.4000_4006del (p.His1334fs)	rs2135735093
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs)	rs1057517140
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer)	rs876658248
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs)	rs879254189
NM_000051.4(ATM):c.4110-1G>A	rs1060501692
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter)	rs141087784
NM_000051.4(ATM):c.4161dup (p.Ala1388fs)	rs2546904297
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs)	rs1555097650
NM_000051.4(ATM):c.4414_4423del (p.Leu1472fs)	rs2546910604
NM_000051.4(ATM):c.4490T>G (p.Leu1497Ter)	rs2082861857
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter)	rs2082872908
NM_000051.4(ATM):c.4625dup (p.Leu1542fs)	rs730881304
NM_000051.4(ATM):c.4661del (p.Asn1554fs)	rs1064793390
NM_000051.4(ATM):c.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.4776+2T>C	rs587781927
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs)	rs864622290
NM_000051.4(ATM):c.4938del (p.Lys1646fs)	rs587781754
NM_000051.4(ATM):c.4961T>G (p.Leu1654Ter)	rs587781679
NM_000051.4(ATM):c.5130G>A (p.Trp1710Ter)	rs780816003
NM_000051.4(ATM):c.5184dup (p.Val1729fs)	rs1555105588
NM_000051.4(ATM):c.5318del (p.Lys1773fs)	rs876660289
NM_000051.4(ATM):c.5319_5319+8delinsTGTTTG	rs1064792939
NM_000051.4(ATM):c.5320-5_5320-2del	rs730881310
NM_000051.4(ATM):c.5416del (p.Trp1805_Ile1806insTer)	rs879254041
NM_000051.4(ATM):c.5460del (p.Lys1820fs)	rs1057516760
NM_000051.4(ATM):c.5497-1G>A	rs876660245
NM_000051.4(ATM):c.5497-2A>C	rs786203796
NM_000051.4(ATM):c.5497-2A>G	rs786203796
NM_000051.4(ATM):c.549_550del (p.His183fs)	rs730881297
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs)	rs1555107263
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter)	rs754562056
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs)	rs758852420
NM_000051.4(ATM):c.5699_5700del (p.Cys1900fs)	rs2547005376
NM_000051.4(ATM):c.5716C>T (p.Gln1906Ter)	rs2135976898
NM_000051.4(ATM):c.6002T>G (p.Leu2001Ter)	rs1555111910
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys)	rs864622251
NM_000051.4(ATM):c.6130A>T (p.Lys2044Ter)	rs2136128705
NM_000051.4(ATM):c.6133del (p.Ala2045fs)	rs1555113762
NM_000051.4(ATM):c.6173C>G (p.Ser2058Ter)	rs1555113821
NM_000051.4(ATM):c.6198+1G>A	rs778031266
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)	rs397514577
NM_000051.4(ATM):c.6369_6370del (p.Ser2123fs)	rs1555116381
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)	rs587782554
NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter)	rs1339238483
NM_000051.4(ATM):c.6450dup (p.Arg2151fs)	rs2136222670
NM_000051.4(ATM):c.6527_6530dup (p.Gln2177fs)	rs2085200653
NM_000051.4(ATM):c.6529C>T (p.Gln2177Ter)	rs766706861
NM_000051.4(ATM):c.6585_6586del (p.His2195fs)	rs1555119004
NM_000051.4(ATM):c.6635_6636del (p.Leu2212fs)	rs768909644
NM_000051.4(ATM):c.680C>G (p.Ser227Ter)	rs762998620
NM_000051.4(ATM):c.6814delinsCA (p.Glu2272fs)	rs1565520117
NM_000051.4(ATM):c.6843C>A (p.Tyr2281Ter)	rs1555119797
NM_000051.4(ATM):c.6976-2A>C	rs587782403
NM_000051.4(ATM):c.7013_7014del (p.Leu2338fs)	rs1591142418
NM_000051.4(ATM):c.710del (p.Thr237fs)	rs1060501642
NM_000051.4(ATM):c.7187_7190del (p.Thr2396fs)	rs2547248727
NM_000051.4(ATM):c.7299_7302del (p.Asn2435fs)	rs886039628
NM_000051.4(ATM):c.7307+1G>A	rs2086003529
NM_000051.4(ATM):c.7307G>A (p.Arg2436Lys)	rs786203394
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp)	rs876659365
NM_000051.4(ATM):c.7410T>G (p.Tyr2470Ter)	rs1555123144
NM_000051.4(ATM):c.75_78del	rs1565344409
NM_000051.4(ATM):c.7629_7629+4del	rs876660041
NM_000051.4(ATM):c.7630-1G>A	rs2086285148
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)	rs587776547
NM_000051.4(ATM):c.7694dup (p.Asn2565fs)	rs1591171790
NM_000051.4(ATM):c.7699_7702del (p.Asn2567fs)	rs1060501547
NM_000051.4(ATM):c.7753A>T (p.Lys2585Ter)	rs2086308918
NM_000051.4(ATM):c.7788G>A (p.Glu2596=)	rs587780639
NM_000051.4(ATM):c.7789-3T>G	rs864622185
NM_000051.4(ATM):c.7858del (p.Val2620fs)	rs1555125349
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.7886_7890del (p.Ile2629fs)	rs1450394308
NM_000051.4(ATM):c.7889T>G (p.Leu2630Ter)	rs1591178998
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser)	rs863224440
NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del)	rs876660743
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp)	rs863224463
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)	rs587782719
NM_000051.4(ATM):c.8127del (p.Lys2710fs)	rs1591192266
NM_000051.4(ATM):c.8149A>T (p.Lys2717Ter)	rs774334667
NM_000051.4(ATM):c.8152-1G>A	rs1398616877
NM_000051.4(ATM):c.8204_8205dup (p.Asn2736fs)	rs1555128432
NM_000051.4(ATM):c.8268G>T (p.Lys2756Asn)	rs1555128642
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs)	rs879254036
NM_000051.4(ATM):c.8305_8317del (p.Trp2769fs)	rs786202318
NM_000051.4(ATM):c.8305del (p.Trp2769fs)	rs2547415915
NM_000051.4(ATM):c.8376del (p.Arg2792fs)	rs2547418538
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)	rs786202800
NM_000051.4(ATM):c.8451T>G (p.Tyr2817Ter)	rs2137026687
NM_000051.4(ATM):c.850C>T (p.Gln284Ter)	rs757782702
NM_000051.4(ATM):c.8575TCT[1] (p.Ser2860del)	rs786203976
NM_000051.4(ATM):c.8615_8616del (p.His2872fs)	rs1232259438
NM_000051.4(ATM):c.8682dup (p.Glu2895Ter)	rs1565579084
NM_000051.4(ATM):c.8695dup (p.Ile2899fs)	rs1555142816
NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter)	rs1555142845
NM_000051.4(ATM):c.8731dup (p.Thr2911fs)	rs2137291352
NM_000051.4(ATM):c.8787-1G>C	rs1591313869
NM_000051.4(ATM):c.8823_8824del (p.Gln2942fs)	rs1555143538
NM_000051.4(ATM):c.8835_8836del (p.Leu2946fs)	rs786202547
NM_000051.4(ATM):c.8851-1G>T	rs1057516537
NM_000051.4(ATM):c.8942del (p.His2981fs)	rs786203489
NM_000051.4(ATM):c.8967del (p.Glu2990fs)	rs2547677906
NM_000051.4(ATM):c.8988-1G>A	rs730881386
NM_000051.4(ATM):c.8del (p.Leu3fs)	rs879254052
NM_000051.4(ATM):c.900del (p.Gly301fs)	rs1555067335
NM_000051.4(ATM):c.901+1G>T	rs748840480
NM_000051.4(ATM):c.9040C>T (p.Gln3014Ter)	rs2137911487
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs)	rs587782847
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)	rs587780645
NM_000051.4(ATM):c.9112del (p.Gln3038fs)	rs587779878
NM_000051.4(ATM):c.914del (p.Glu304_Ser305insTer)	rs2497178607
NM_000051.4(ATM):c.947_948del (p.Leu315_Tyr316insTer)	rs2135265742
NM_000051.4(ATM):c.975del (p.His325fs)	rs2079883068
NM_000051.4(ATM):c.977_978del (p.Ile326fs)	rs876658832
NM_000052.7(ATP7A):c.1910C>G (p.Ser637Ter)	rs151340631
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter)	rs72554650
NM_000053.4(ATP7B):c.1340_1343del (p.Gln447fs)	rs1057517444
NM_000053.4(ATP7B):c.1374_1377del (p.Val459fs)	rs1060499593
NM_000053.4(ATP7B):c.1512dup (p.Asn505Ter)	rs1057516418
NM_000053.4(ATP7B):c.1520_1523del (p.Glu507fs)	rs772000260
NM_000053.4(ATP7B):c.1543+1G>A	rs1360279134
NM_000053.4(ATP7B):c.1543+1G>T	rs1360279134
NM_000053.4(ATP7B):c.1544-2A>G	rs1555294398
NM_000053.4(ATP7B):c.1649del (p.Gly550fs)	rs2139890297
NM_000053.4(ATP7B):c.1707+1G>A	rs377001615
NM_000053.4(ATP7B):c.1707+2dup	rs781531824
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer)	rs1057516893
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs)	rs753962912
NM_000053.4(ATP7B):c.1908dup (p.Asn637fs)	rs1469425216
NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr)	rs72552285
NM_000053.4(ATP7B):c.1949G>A (p.Trp650Ter)	rs375542827
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs)	rs749363958
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.2069C>T (p.Pro690Leu)	rs1555291809
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.208C>T (p.Gln70Ter)	rs2547825108
NM_000053.4(ATP7B):c.2121+1G>A	rs751235573
NM_000053.4(ATP7B):c.2121+1G>T	rs751235573
NM_000053.4(ATP7B):c.2121+3A>G	rs1248002612
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala)	rs1555291285
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.2280_2301del (p.Val761fs)	rs1958493213
NM_000053.4(ATP7B):c.2303C>T (p.Pro768Leu)	rs1057516844
NM_000053.4(ATP7B):c.2304dup (p.Met769fs)	rs137853287
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly)	rs137853284
NM_000053.4(ATP7B):c.2356-2A>G	rs2139505830
NM_000053.4(ATP7B):c.2476_2510del (p.Gln826fs)	rs2547673846
NM_000053.4(ATP7B):c.2513del (p.Lys838fs)	rs777362050
NM_000053.4(ATP7B):c.2532del (p.Val845fs)	rs755709270
NM_000053.4(ATP7B):c.2588del (p.Pro863fs)	rs2139212289
NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro)	rs1455758826
NM_000053.4(ATP7B):c.2697_2723del (p.Ile899_Gln907del)	rs2139201690
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.2763T>A (p.Ser921Arg)	rs1052485948
NM_000053.4(ATP7B):c.2784CAT[2] (p.Ile930del)	rs1228359983
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.2866-2del	rs1593681941
NM_000053.4(ATP7B):c.291dup (p.Ala98fs)	rs1566603492
NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg)	rs199623434
NM_000053.4(ATP7B):c.2998G>C (p.Gly1000Arg)	rs751078884
NM_000053.4(ATP7B):c.3029A>C (p.Lys1010Thr)	rs747584649
NM_000053.4(ATP7B):c.3029A>G (p.Lys1010Arg)	rs747584649
NM_000053.4(ATP7B):c.3061-12T>A	rs1045194246
NM_000053.4(ATP7B):c.3061-2A>G	rs1957520924
NM_000053.4(ATP7B):c.3062T>A (p.Ile1021Lys)	rs949421614
NM_000053.4(ATP7B):c.3086C>T (p.Thr1029Ile)	rs1555286628
NM_000053.4(ATP7B):c.3088G>A (p.Gly1030Ser)	rs1957518268
NM_000053.4(ATP7B):c.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.3200G>A (p.Ser1067Asn)	rs2085422358
NM_000053.4(ATP7B):c.3220G>A (p.Ala1074Thr)	rs1196142320
NM_000053.4(ATP7B):c.3244-2A>G	rs786204584
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe)	rs1286080173
NM_000053.4(ATP7B):c.3283del (p.Gln1095fs)	rs764108297
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg)	rs786204483
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala)	rs1566462533
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His)	rs377297166
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter)	rs1057516479
NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter)	rs748924063
NM_000053.4(ATP7B):c.3562C>T (p.Leu1188Phe)	rs1432190775
NM_000053.4(ATP7B):c.3638G>T (p.Gly1213Val)	rs1555284582
NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del)	rs781266802
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met)	rs193922107
NM_000053.4(ATP7B):c.365_366delinsGGGCTTCGAA (p.Glu122fs)	rs2547823465
NM_000053.4(ATP7B):c.3662G>A (p.Gly1221Glu)	rs1486594906
NM_000053.4(ATP7B):c.3664del (p.Asp1222fs)	rs886042519
NM_000053.4(ATP7B):c.3664dup (p.Asp1222fs)	rs886042519
NM_000053.4(ATP7B):c.3800A>C (p.Asp1267Ala)	rs1555283916
NM_000053.4(ATP7B):c.3833C>T (p.Ala1278Val)	rs1375884723
NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val)	rs1340942427
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe)	rs749472361
NM_000053.4(ATP7B):c.3904-2del	rs1957032734
NM_000053.4(ATP7B):c.3960G>C (p.Arg1320Ser)	rs778732681
NM_000053.4(ATP7B):c.3971A>G (p.Asn1324Ser)	rs760285767
NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs)	rs1566441447
NM_000053.4(ATP7B):c.4007T>C (p.Ile1336Thr)	rs1957026103
NM_000053.4(ATP7B):c.4014T>A (p.Ile1338=)	rs762097856
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.4112T>C (p.Leu1371Pro)	rs1444841250
NM_000053.4(ATP7B):c.4124+1G>A	rs1956910096
NM_000053.4(ATP7B):c.4125-2A>G	rs1555282347
NM_000053.4(ATP7B):c.4195C>T (p.Gln1399Ter)	rs2138407151
NM_000053.4(ATP7B):c.4198del (p.Val1400fs)	rs2547542768
NM_000053.4(ATP7B):c.4229G>A (p.Trp1410Ter)	rs2547542223
NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs)	rs1555282191
NM_000053.4(ATP7B):c.4355G>A (p.Trp1452Ter)	rs780486131
NM_000053.4(ATP7B):c.4356G>A (p.Trp1452Ter)	rs1341172185
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs)	rs558037268
NM_000053.4(ATP7B):c.528del (p.Ser177fs)	rs2140098691
NM_000053.4(ATP7B):c.697_698del (p.Lys233fs)	rs1023530194
NM_000053.4(ATP7B):c.71del (p.Leu24fs)	rs2547826388
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)	rs786204570
NM_000053.4(ATP7B):c.804dup (p.Lys269Ter)	rs1952004098
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)	rs572147914
NM_000053.4(ATP7B):c.839del (p.Gly280fs)	rs2547818100
NM_000053.4(ATP7B):c.841del (p.Gln281fs)	rs1952001328
NM_000053.4(ATP7B):c.915T>A (p.Cys305Ter)	rs398123137
NM_000053.4(ATP7B):c.956del (p.Pro319fs)	rs753674382
NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter)	rs911589273
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)	rs1567040469
NM_000057.4(BLM):c.1221-2A>C	rs1555419779
NM_000057.4(BLM):c.1237G>T (p.Glu413Ter)	rs887921909
NM_000057.4(BLM):c.1399dup (p.Asp467fs)	rs1555419862
NM_000057.4(BLM):c.1429_1432del (p.Thr477fs)	rs1555419873
NM_000057.4(BLM):c.1430_1431del (p.Thr477fs)	rs2505425503
NM_000057.4(BLM):c.1450A>T (p.Lys484Ter)	rs2505425763
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs)	rs746244182
NM_000057.4(BLM):c.1487del (p.Leu496fs)	rs2151158316
NM_000057.4(BLM):c.1544dup (p.Asn515fs)	rs367543043
NM_000057.4(BLM):c.1545del (p.Asn515fs)	rs2505426939
NM_000057.4(BLM):c.1622del (p.Asn541fs)	rs2505427549
NM_000057.4(BLM):c.1632_1635del (p.Arg545fs)	rs1205301894
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter)	rs1356090839
NM_000057.4(BLM):c.1889C>G (p.Ser630Ter)	rs2151160492
NM_000057.4(BLM):c.1894C>T (p.Gln632Ter)	rs746857727
NM_000057.4(BLM):c.2086_2087del (p.Ser696fs)	rs2505441027
NM_000057.4(BLM):c.213_214del (p.Ser72fs)	rs960430492
NM_000057.4(BLM):c.2193+1_2193+9del	rs1060500652
NM_000057.4(BLM):c.2268del (p.Asp757fs)	rs747341586
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs)	rs1555420602
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer)	rs1555420844
NM_000057.4(BLM):c.2404_2407del (p.Gln802fs)	rs1567045235
NM_000057.4(BLM):c.2406+2T>G	rs367543016
NM_000057.4(BLM):c.2410G>T (p.Gly804Ter)	rs1412341951
NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter)	rs1060503989
NM_000057.4(BLM):c.2851_2857del (p.Met951fs)	rs1309932713
NM_000057.4(BLM):c.298_299del (p.Gln100fs)	rs745807085
NM_000057.4(BLM):c.299dup (p.Arg101fs)	rs768777000
NM_000057.4(BLM):c.3007A>T (p.Arg1003Ter)	rs2505517110
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser)	rs367543029
NM_000057.4(BLM):c.320dup (p.Leu107fs)	rs781221411
NM_000057.4(BLM):c.3358+1G>A	rs1214154774
NM_000057.4(BLM):c.3421delinsTTTTT (p.Asn1141fs)	rs2505546989
NM_000057.4(BLM):c.3437_3438del (p.Leu1145_Phe1146insTer)	rs770592505
NM_000057.4(BLM):c.357_358del (p.Cys120fs)	rs748186908
NM_000057.4(BLM):c.3611T>G (p.Leu1204Ter)	rs2505549800
NM_000057.4(BLM):c.3678C>A (p.Cys1226Ter)	rs1897236255
NM_000057.4(BLM):c.3845del (p.Leu1282fs)	rs1897350204
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter)	rs367543031
NM_000057.4(BLM):c.3863G>A (p.Trp1288Ter)	rs2151198389
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs)	rs1057516261
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer)	rs367543026
NM_000057.4(BLM):c.646G>T (p.Glu216Ter)	rs779934502
NM_000057.4(BLM):c.709del (p.Cys237fs)	rs1217879599
NM_000057.4(BLM):c.729del (p.Ile243fs)	rs2505394659
NM_000057.4(BLM):c.74T>G (p.Leu25Ter)	rs1895534883
NM_000057.4(BLM):c.75_78del (p.Leu25fs)	rs2505385125
NM_000057.4(BLM):c.772_773del (p.Leu258fs)	rs367543013
NM_000057.4(BLM):c.800-2A>G	rs1895690125
NM_000057.4(BLM):c.855del (p.Val286fs)	rs2151149598
NM_000057.4(BLM):c.98+1G>A	rs750293380
NM_000057.4(BLM):c.98+1G>T	rs750293380
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)	rs80359351
NM_000059.4(BRCA2):c.1733del (p.Gly578fs)	rs879255326
NM_000059.4(BRCA2):c.1817_1819delinsTTT (p.Pro606_Lys607delinsLeuTer)	rs587779358
NM_000059.4(BRCA2):c.464G>A (p.Arg155Lys)	rs377639990
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)	rs80359507
NM_000059.4(BRCA2):c.631+3A>G	rs397507840
NM_000059.4(BRCA2):c.7095T>A (p.His2365Gln)	rs370708814
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg)	rs80359012
NM_000059.4(BRCA2):c.8265_8275del (p.Ala2756fs)	rs2548546894
NM_000059.4(BRCA2):c.8331+1G>A	rs81002837
NM_000059.4(BRCA2):c.8488-1G>A	rs397507404
NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu)	rs276174926
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)	rs80359775
NM_000059.4(BRCA2):c.9998T>C (p.Leu3333Pro)	rs1555290016
NM_000062.3(SERPING1):c.1397G>A (p.Arg466His)	rs121907948
NM_000064.4(C3):c.3343G>A (p.Asp1115Asn)	rs121909585
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu)	rs794727895
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)	rs773827877
NM_000070.3(CAPN3):c.2380+2T>G	rs761935462
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del)	rs727503837
NM_000070.3(CAPN3):c.59del (p.Pro20fs)	rs1555417271
NM_000071.3(CBS):c.1126G>A (p.Asp376Asn)	rs1170128038
NM_000071.3(CBS):c.1145+1G>A	rs2517411603
NM_000071.3(CBS):c.1152G>C (p.Lys384Asn)	rs1304669003
NM_000071.3(CBS):c.1218del (p.Lys406fs)	rs794727083
NM_000071.3(CBS):c.1306G>T (p.Glu436Ter)	rs1354271840
NM_000071.3(CBS):c.1321A>T (p.Lys441Ter)	rs1057516645
NM_000071.3(CBS):c.1552+1G>A	rs1434118781
NM_000071.3(CBS):c.1566del (p.Lys523fs)	rs786204466
NM_000071.3(CBS):c.210-1G>C	rs2146414477
NM_000071.3(CBS):c.262C>T (p.Pro88Ser)	rs2146413970
NM_000071.3(CBS):c.302T>C (p.Leu101Pro)	rs786204757
NM_000071.3(CBS):c.346G>A (p.Gly116Arg)	rs760214620
NM_000071.3(CBS):c.402del (p.Thr135fs)	rs1057517083
NM_000071.3(CBS):c.434C>T (p.Pro145Leu)	rs121964963
NM_000071.3(CBS):c.457G>A (p.Gly153Arg)	rs745704046
NM_000071.3(CBS):c.481del (p.Arg161fs)	rs2146387904
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del)	rs794727835
NM_000071.3(CBS):c.580_599del (p.Asn194fs)	rs2517445160
NM_000071.3(CBS):c.667-14_667-7del	rs764160782
NM_000071.3(CBS):c.676G>A (p.Ala226Thr)	rs763835246
NM_000071.3(CBS):c.683A>G (p.Asn228Ser)	rs1555874803
NM_000071.3(CBS):c.694C>G (p.His232Asp)	rs1982504069
NM_000071.3(CBS):c.732_733del (p.Cys244_Asp245delinsTer)	rs2517442346
NM_000071.3(CBS):c.738del	rs766453711
NM_000071.3(CBS):c.752T>C (p.Leu251Pro)	rs1176770868
NM_000071.3(CBS):c.808_810del (p.Glu270del)	rs760710691
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.869C>T (p.Pro290Leu)	rs760912339
NM_000071.3(CBS):c.889G>T (p.Glu297Ter)	rs1298089659
NM_000071.3(CBS):c.904G>A (p.Glu302Lys)	rs779270933
NM_000071.3(CBS):c.949A>G (p.Arg317Gly)	rs775432669
NM_000071.3(CBS):c.954+1G>A	rs1057517373
NM_000071.3(CBS):c.969G>A (p.Trp323Ter)	rs863223432
NM_000071.3(CBS):c.98del (p.Pro33fs)	rs2146428203
NM_000071.3(CBS):c.992C>A (p.Ala331Glu)	rs777919630
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly)	rs104894099
NM_000080.4(CHRNE):c.1086_1111dup (p.Arg371fs)	rs2507541545
NM_000080.4(CHRNE):c.1108del (p.Arg370fs)	rs1969856640
NM_000080.4(CHRNE):c.115dup (p.Ser39fs)	rs977512223
NM_000080.4(CHRNE):c.1203del (p.Gln402fs)	rs1429181185
NM_000080.4(CHRNE):c.1216_1219+19del	rs760623071
NM_000080.4(CHRNE):c.1254dup (p.Glu419fs)	rs769945146
NM_000080.4(CHRNE):c.1371del (p.Cys458fs)	rs1597612665
NM_000080.4(CHRNE):c.1383_1393del (p.Ala462fs)	rs2509299464
NM_000080.4(CHRNE):c.1429del (p.Ala477fs)	rs1396286715
NM_000080.4(CHRNE):c.209_210del (p.Leu70fs)	rs2507562677
NM_000080.4(CHRNE):c.224G>A (p.Trp75Ter)	rs2507562564
NM_000080.4(CHRNE):c.452_454del (p.Glu151del)	rs2151098283
NM_000080.4(CHRNE):c.501-10_504dup	rs768552387
NM_000080.4(CHRNE):c.721C>T (p.Leu241Phe)	rs28999110
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu)	rs759226183
NM_000080.4(CHRNE):c.874C>T (p.Gln292Ter)	rs2507553112
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg)	rs370019023
NM_000080.4(CHRNE):c.917G>T (p.Arg306Met)	rs2151096983
NM_000080.4(CHRNE):c.966C>A (p.Cys322Ter)	rs56377005
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp)	rs121909515
NM_000081.4(LYST):c.10345C>T (p.Arg3449Ter)	rs754616030
NM_000081.4(LYST):c.10643T>A (p.Leu3548Ter)	rs2527258082
NM_000081.4(LYST):c.192+1G>A	rs2527299680
NM_000081.4(LYST):c.2016C>A (p.Tyr672Ter)	rs922968465
NM_000081.4(LYST):c.2413G>T (p.Glu805Ter)	rs762160809
NM_000081.4(LYST):c.2962C>T (p.Arg988Ter)	rs1236600542
NM_000081.4(LYST):c.3433del (p.His1145fs)	rs760317441
NM_000081.4(LYST):c.3601del (p.Ser1201fs)	rs2527037759
NM_000081.4(LYST):c.3996del (p.Asp1333fs)	rs2527008662
NM_000081.4(LYST):c.484C>T (p.Gln162Ter)	rs1346059141
NM_000081.4(LYST):c.5491C>T (p.Gln1831Ter)	rs2527973482
NM_000081.4(LYST):c.6862C>T (p.Arg2288Ter)	rs1667309466
NM_000081.4(LYST):c.7135dup (p.Leu2379fs)	rs1449954533
NM_000081.4(LYST):c.8425dup (p.Glu2809fs)	rs2527559893
NM_000081.4(LYST):c.9219_9222del (p.Glu3074fs)	rs1394834891
NM_000081.4(LYST):c.9245dup (p.Leu3082fs)	rs1663631401
NM_000081.4(LYST):c.985C>T (p.Arg329Ter)	rs1673263416
NM_000081.4(LYST):c.9874G>T (p.Glu3292Ter)	rs778586545
NM_000081.4(LYST):c.9988del (p.Ala3330fs)	rs2527364273
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)	rs797045032
NM_000088.4(COL1A1):c.543G>A (p.Met181Ile)	rs72667022
NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg)	rs1584320605
NM_000090.4(COL3A1):c.3158G>A (p.Gly1053Asp)	rs1576471840
NM_000090.4(COL3A1):c.3496C>T (p.Arg1166Ter)	rs587779646
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter)	rs794728060
NM_000090.4(COL3A1):c.4254G>A (p.Thr1418=)	rs587779565
NM_000090.4(COL3A1):c.953G>A (p.Gly318Asp)	rs1553507614
NM_000093.5(COL5A1):c.2653A>G (p.Ile885Val)	rs781756159
NM_000093.5(COL5A1):c.3484G>A (p.Gly1162Arg)	rs1838467288
NM_000098.3(CPT2):c.1324dup (p.Thr442fs)	rs1131691330
NM_000098.3(CPT2):c.1569_1570del (p.His523fs)	rs1572385947
NM_000098.3(CPT2):c.1784del (p.Pro595fs)	rs760255368
NM_000098.3(CPT2):c.1810C>T (p.Pro604Ser)	rs1645443275
NM_000098.3(CPT2):c.1822G>C (p.Asp608His)	rs780286639
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe)	rs515726173
NM_000098.3(CPT2):c.631C>T (p.Pro211Ser)	rs796051942
NM_000098.3(CPT2):c.63dup (p.Ser22fs)	rs2525558154
NM_000098.3(CPT2):c.852del (p.Glu285fs)	rs1057517729
NM_000098.3(CPT2):c.989dup (p.Ile332fs)	rs1553169716
NM_000102.4(CYP17A1):c.1117C>A (p.His373Asn)	rs1423560123
NM_000102.4(CYP17A1):c.1117C>G (p.His373Asp)	rs1423560123
NM_000102.4(CYP17A1):c.1318C>T (p.Arg440Cys)	rs868228603
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs)	rs556794126
NM_000102.4(CYP17A1):c.157TTC[1] (p.Phe54del)	rs121434319
NM_000102.4(CYP17A1):c.973AAG[2] (p.Lys327del)	rs774737304
NM_000104.4(CYP1B1):c.1536_1541del (p.Pro513_Lys514del)	rs751768343
NM_000108.5(DLD):c.1058T>C (p.Ile353Thr)	rs2116271469
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.1344_1347del (p.Asp448fs)	rs1402761530
NM_000108.5(DLD):c.1483A>G (p.Arg495Gly)	rs121964989
NM_000108.5(DLD):c.633dup (p.Val212fs)	rs1040811473
NM_000108.5(DLD):c.821dup (p.Leu274fs)	rs751883130
NM_000108.5(DLD):c.82dup (p.Ser28fs)	rs764704217
NM_000110.4(DPYD):c.1109_1110del (p.Ile370fs)	rs749571474
NM_000110.4(DPYD):c.205G>T (p.Glu69Ter)	rs2525245079
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp)	rs104893920
NM_000112.4(SLC26A2):c.1806_1809del (p.Thr603fs)	rs1057517530
NM_000112.4(SLC26A2):c.299del (p.Pro100fs)	rs1581230727
NM_000112.4(SLC26A2):c.485_486del (p.Val162fs)	rs763198695
NM_000112.4(SLC26A2):c.819del (p.Leu275fs)	rs750882937
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)	rs80358233
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)	rs782507902
NM_000124.4(ERCC6):c.1518del (p.Lys506fs)	rs786205168
NM_000126.4(ETFA):c.177del (p.Lys59fs)	rs752119263
NM_000126.4(ETFA):c.203_204del (p.Leu67_Cys68insTer)	rs1567218476
NM_000126.4(ETFA):c.284dup (p.Leu95fs)	rs2039775823
NM_000126.4(ETFA):c.298_325del (p.Gln100fs)	rs762158164
NM_000126.4(ETFA):c.319_322del (p.His107fs)	rs866218814
NM_000126.4(ETFA):c.321_322del (p.Ile108fs)	rs866218814
NM_000126.4(ETFA):c.495_496del (p.Ser167fs)	rs1298299792
NM_000126.4(ETFA):c.693dup (p.Lys232Ter)	rs754050501
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del)	rs779140971
NM_000126.4(ETFA):c.826_833dup (p.Gly279fs)	rs1461515863
NM_000126.4(ETFA):c.963+1del	rs746488455
NM_000132.4(F8):c.1636C>T (p.Arg546Trp)	rs137852416
NM_000135.4(FANCA):c.1007-2A>G	rs2040110878
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs)	rs769580546
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)	rs878853660
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter)	rs752864343
NM_000135.4(FANCA):c.1194del (p.Cys399fs)	rs2040090995
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter)	rs1484087361
NM_000135.4(FANCA):c.1226-1G>C	rs1417768931
NM_000135.4(FANCA):c.1287del (p.Ala430fs)	rs2544270683
NM_000135.4(FANCA):c.1292dup (p.Leu432fs)	rs1416639878
NM_000135.4(FANCA):c.1304G>A (p.Arg435His)	rs1060501879
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu)	rs1060501879
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg)	rs2040074214
NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter)	rs2040072957
NM_000135.4(FANCA):c.1470+2T>C	rs2039844134
NM_000135.4(FANCA):c.1475A>G (p.His492Arg)	rs925457555
NM_000135.4(FANCA):c.1567-20A>G	rs775154397
NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter)	rs769047348
NM_000135.4(FANCA):c.1827-2A>G	rs2143393518
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs)	rs2041095238
NM_000135.4(FANCA):c.182_184delinsGG (p.Leu61fs)	rs2544389395
NM_000135.4(FANCA):c.187G>T (p.Glu63Ter)	rs1282690126
NM_000135.4(FANCA):c.1901-3C>A	rs17226526
NM_000135.4(FANCA):c.2014+1G>C	rs1598116164
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter)	rs17232973
NM_000135.4(FANCA):c.2026_2027dup (p.Gln676fs)	rs2143351554
NM_000135.4(FANCA):c.2051_2052del (p.Leu684fs)	rs2544202887
NM_000135.4(FANCA):c.206_207del (p.Leu68_Cys69insTer)	rs2143711627
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter)	rs1555548512
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del)	rs1567618907
NM_000135.4(FANCA):c.2184_2185del (p.Asn729fs)	rs2039289668
NM_000135.4(FANCA):c.2222+1G>T	rs775388912
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro)	rs137913973
NM_000135.4(FANCA):c.2290C>T (p.Arg764Trp)	rs751572448
NM_000135.4(FANCA):c.2316+1_2316+3del	rs2039275264
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer)	rs1363946483
NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter)	rs2039260856
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter)	rs1247378731
NM_000135.4(FANCA):c.2529C>G (p.Tyr843Ter)	rs1247378731
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter)	rs1452688134
NM_000135.4(FANCA):c.2602-2A>C	rs1555545592
NM_000135.4(FANCA):c.2604_2609del
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln)	rs1017086086
NM_000135.4(FANCA):c.2632_2633delinsCG (p.Glu878Arg)	rs2039079300
NM_000135.4(FANCA):c.275C>A (p.Ser92Ter)	rs1183559927
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs)	rs1555545421
NM_000135.4(FANCA):c.2778+2T>C	rs1458001028
NM_000135.4(FANCA):c.2778+83C>G	rs750997715
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly)	rs766643461
NM_000135.4(FANCA):c.283+1G>A	rs1232171121
NM_000135.4(FANCA):c.2839dup (p.Ser947fs)	rs756367276
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)	rs755546887
NM_000135.4(FANCA):c.2852+1dup	rs1424006580
NM_000135.4(FANCA):c.2853-15_2856del	rs1285346388
NM_000135.4(FANCA):c.2860T>A (p.Phe954Ile)	rs2544157065
NM_000135.4(FANCA):c.2910del (p.Gly972fs)	rs1278836130
NM_000135.4(FANCA):c.306del (p.Ser103fs)	rs2544365253
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs)	rs1405317971
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer)	rs2143139166
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)	rs753063086
NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter)	rs776391208
NM_000135.4(FANCA):c.3239+1dup	rs766989857
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln)	rs1555538571
NM_000135.4(FANCA):c.3329A>C (p.His1110Pro)	rs752837228
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del)	rs786204246
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser)	rs545772434
NM_000135.4(FANCA):c.3519G>A (p.Trp1173Ter)	rs758341181
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter)	rs1390620949
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del)	rs1380850249
NM_000135.4(FANCA):c.3627-1G>A	rs2062172440
NM_000135.4(FANCA):c.3627-3_3627-2del	rs2062172458
NM_000135.4(FANCA):c.3696del (p.Phe1232fs)	rs1555535527
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)	rs139160837
NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del)	rs1183256870
NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer)	rs587778319
NM_000135.4(FANCA):c.3828+1G>A	rs1432988639
NM_000135.4(FANCA):c.3915_3916del (p.Phe1306fs)	rs748453841
NM_000135.4(FANCA):c.3919_3923dup (p.Leu1308fs)	rs2151714613
NM_000135.4(FANCA):c.3929_3932del (p.Glu1310fs)	rs1403231932
NM_000135.4(FANCA):c.3934+2T>C	rs771775516
NM_000135.4(FANCA):c.3955dup (p.Leu1319fs)	rs1461376582
NM_000135.4(FANCA):c.3973del (p.Asp1325fs)	rs2151712879
NM_000135.4(FANCA):c.4010+1G>A	rs2062067810
NM_000135.4(FANCA):c.4010+1_4010+18del	rs752457319
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs)	rs747892390
NM_000135.4(FANCA):c.4096C>T (p.Gln1366Ter)	rs1336834251
NM_000135.4(FANCA):c.4168-4C>T	rs775180524
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter)	rs2040853392
NM_000135.4(FANCA):c.426+1G>A	rs1343463467
NM_000135.4(FANCA):c.4260+1dup	rs1555532944
NM_000135.4(FANCA):c.4261-19_4261-12del	rs1567591276
NM_000135.4(FANCA):c.4261-2A>C	rs915983602
NM_000135.4(FANCA):c.4261-2A>G	rs915983602
NM_000135.4(FANCA):c.4275del (p.Asp1427fs)	rs1598048941
NM_000135.4(FANCA):c.549G>A (p.Trp183Ter)	rs758528624
NM_000135.4(FANCA):c.709+5G>T	rs759877008
NM_000135.4(FANCA):c.710-10G>A	rs2040524006
NM_000135.4(FANCA):c.710-1G>C	rs1388128874
NM_000135.4(FANCA):c.827-1G>T	rs753728435
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter)	rs2041102320
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.987_990del (p.His330fs)	rs772359099
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)	rs759900071
NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter)	rs2071939263
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.1663C>T (p.Arg555Ter)	rs370974124
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter)	rs730881731
NM_000136.3(FANCC):c.346-1G>A	rs1484503633
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs)	rs587779904
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.8_9del (p.Gln3fs)	rs1831183107
NM_000137.4(FAH):c.1030del (p.Asp344fs)	rs747546798
NM_000137.4(FAH):c.107T>C (p.Ile36Thr)	rs774648934
NM_000137.4(FAH):c.1090G>C (p.Glu364Gln)	rs121965076
NM_000137.4(FAH):c.1097_1099del (p.Ser366del)	rs1342338851
NM_000137.4(FAH):c.1141A>G (p.Arg381Gly)	rs121965077
NM_000137.4(FAH):c.1203C>G (p.Tyr401Ter)	rs2041368952
NM_000137.4(FAH):c.1213_1214delinsCA (p.Phe405His)	rs1567123622
NM_000137.4(FAH):c.122T>C (p.Leu41Pro)	rs2041114940
NM_000137.4(FAH):c.192+1G>T	rs786204683
NM_000137.4(FAH):c.315-2A>G	rs1555440603
NM_000137.4(FAH):c.424A>G (p.Arg142Gly)	rs1420414848
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.577T>C (p.Cys193Arg)	rs2505850621
NM_000137.4(FAH):c.607-1G>A	rs771712041
NM_000137.4(FAH):c.608del (p.Ala203fs)	rs2505853708
NM_000137.4(FAH):c.615dup (p.Val206fs)	rs1057517084
NM_000137.4(FAH):c.698A>T (p.Asp233Val)	rs80338897
NM_000137.4(FAH):c.701G>A (p.Trp234Ter)	rs2041247681
NM_000137.4(FAH):c.702G>A (p.Trp234Ter)	rs765527687
NM_000137.4(FAH):c.72_81dup (p.Pro28fs)	rs2505834859
NM_000137.4(FAH):c.744del (p.Pro249fs)	rs750741137
NM_000137.4(FAH):c.745C>A (p.Pro249Thr)	rs1595894742
NM_000137.4(FAH):c.82-1G>A	rs1247460110
NM_000137.4(FAH):c.879C>A (p.Tyr293Ter)	rs2041271232
NM_000137.4(FAH):c.974C>T (p.Thr325Met)	rs770713168
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)	rs121913478
NM_000143.4(FH):c.1274A>T (p.Asp425Val)	rs1038324354
NM_000143.4(FH):c.1390+1G>T	rs886039367
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)	rs367543046
NM_000143.4(FH):c.194A>T (p.Asp65Val)	rs145116688
NM_000143.4(FH):c.40dup (p.Leu14fs)	rs1060500900
NM_000143.4(FH):c.553_554insTG (p.Gln185fs)	rs768182640
NM_000143.4(FH):c.912_918del (p.Phe305fs)	rs794727836
NM_000143.4(FH):c.952C>T (p.His318Tyr)	rs398123168
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser)	rs80356482
NM_000151.4(G6PC1):c.59A>G (p.Gln20Arg)	rs2056021410
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter)	rs780226142
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser)	rs886042960
NM_000152.5(GAA):c.1051del (p.Val351fs)	rs786204507
NM_000152.5(GAA):c.1076-2A>G	rs1057516290
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)	rs1555600061
NM_000152.5(GAA):c.1114C>T (p.His372Tyr)	rs1555600070
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.1193del (p.Leu398fs)	rs1057517286
NM_000152.5(GAA):c.1205G>A (p.Trp402Ter)	rs2510364501
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn)	rs535644999
NM_000152.5(GAA):c.1377dup (p.Glu460fs)	rs2039192386
NM_000152.5(GAA):c.1408_1410del (p.Asn470del)	rs748893499
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.1438-1G>T	rs147804176
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)	rs2039212985
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.1555A>G (p.Met519Val)	rs1598581919
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala)	rs892129065
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs)	rs1291214871
NM_000152.5(GAA):c.1626C>G (p.Pro542=)	rs947585663
NM_000152.5(GAA):c.1650dup (p.Thr551fs)	rs766398206
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)	rs747150965
NM_000152.5(GAA):c.169C>T (p.Gln57Ter)	rs1057516251
NM_000152.5(GAA):c.1721T>C (p.Leu574Pro)	rs2510378916
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys)	rs1428112902
NM_000152.5(GAA):c.1781G>A (p.Arg594His)	rs775450536
NM_000152.5(GAA):c.1799G>T (p.Arg600Leu)	rs377544304
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp)	rs374470794
NM_000152.5(GAA):c.1809del (p.Phe603fs)	rs2143888280
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.1841C>T (p.Thr614Met)	rs369531647
NM_000152.5(GAA):c.1844G>A (p.Gly615Glu)	rs1243515778
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe)	rs1024137874
NM_000152.5(GAA):c.1888+1G>A	rs776325453
NM_000152.5(GAA):c.1930_1936dup (p.Val646fs)	rs748829376
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.1951_1952delinsT (p.Gly651fs)	rs1567835781
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)	rs759518659
NM_000152.5(GAA):c.2015G>T (p.Arg672Leu)	rs778418246
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del)	rs786204621
NM_000152.5(GAA):c.2040+2T>G	rs2510384401
NM_000152.5(GAA):c.2041-1G>A	rs760731229
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer)	rs2039287852
NM_000152.5(GAA):c.2095dup (p.Leu699fs)	rs2143895928
NM_000152.5(GAA):c.2122del (p.His708fs)	rs2510386542
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs)	rs1555601780
NM_000152.5(GAA):c.2140del (p.His714fs)	rs786204549
NM_000152.5(GAA):c.2143C>T (p.Gln715Ter)	rs1275298143
NM_000152.5(GAA):c.2167G>A (p.Val723Met)	rs767247397
NM_000152.5(GAA):c.2185del (p.Leu729fs)	rs1057516581
NM_000152.5(GAA):c.2189+3G>C	rs2143897458
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter)	rs1057516327
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.2238G>A (p.Trp746Ter)	rs1800312
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)	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.2297A>C (p.Tyr766Ser)	rs144016984
NM_000152.5(GAA):c.2408_2426del (p.Gln803fs)	rs763048948
NM_000152.5(GAA):c.2544del (p.Lys849fs)	rs398123173
NM_000152.5(GAA):c.258del (p.Asn87fs)	rs761317813
NM_000152.5(GAA):c.2741delinsCAG (p.Gln914fs)	rs2510404705
NM_000152.5(GAA):c.276C>A (p.Cys92Ter)	rs1232001857
NM_000152.5(GAA):c.2815_2816del (p.Val939fs)	rs763359208
NM_000152.5(GAA):c.282del (p.Asp95fs)	rs2143826963
NM_000152.5(GAA):c.342del (p.Lys114fs)	rs1555598796
NM_000152.5(GAA):c.343C>T (p.Gln115Ter)	rs786204614
NM_000152.5(GAA):c.355G>T (p.Gly119Ter)	rs1555598802
NM_000152.5(GAA):c.361C>T (p.Gln121Ter)	rs750668627
NM_000152.5(GAA):c.511del (p.Asp170_Val171insTer)	rs2143829478
NM_000152.5(GAA):c.546+2_546+5del	rs1181354869
NM_000152.5(GAA):c.546+5G>T	rs756024023
NM_000152.5(GAA):c.546G>C (p.Thr182=)	rs143523371
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.766_785delinsC (p.Tyr256fs)	rs786204532
NM_000152.5(GAA):c.844G>C (p.Asp282His)	rs1264889089
NM_000152.5(GAA):c.854C>G (p.Pro285Arg)	rs764622267
NM_000152.5(GAA):c.859-2A>G	rs2143848897
NM_000152.5(GAA):c.896T>C (p.Leu299Pro)	rs121907940
NM_000152.5(GAA):c.953T>A (p.Met318Lys)	rs121907936
NM_000153.4(GALC):c.7dup (p.Glu3fs)	rs1555384381
NM_000154.2(GALK1):c.1083_1096delinsATG (p.Pro362fs)	rs2061563475
NM_000154.2(GALK1):c.130C>T (p.His44Tyr)	rs1555748926
NM_000154.2(GALK1):c.206dup (p.Asp70fs)	rs1362123883
NM_000154.2(GALK1):c.265C>T (p.Gln89Ter)	rs2143605190
NM_000154.2(GALK1):c.364del (p.Leu122fs)	rs2061596711
NM_000154.2(GALK1):c.410del (p.Gly137fs)	rs767329054
NM_000154.2(GALK1):c.410dup (p.Gly138fs)	rs767329054
NM_000154.2(GALK1):c.510T>A (p.Cys170Ter)	rs775843885
NM_000154.2(GALK1):c.514C>T (p.Gln172Ter)	rs767799179
NM_000154.2(GALK1):c.793+2T>G	rs759699355
NM_000154.2(GALK1):c.853_874del (p.Ile285fs)	rs770087254
NM_000154.2(GALK1):c.901A>T (p.Arg301Ter)	rs1224987754
NM_000155.4(GALT):c.1001A>G (p.Lys334Arg)	rs111033809
NM_000155.4(GALT):c.1052del (p.Pro351fs)	rs111033813
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter)	rs111033818
NM_000155.4(GALT):c.152G>T (p.Arg51Leu)	rs111033648
NM_000155.4(GALT):c.18del (p.Asp7fs)	rs111033638
NM_000155.4(GALT):c.203A>C (p.His68Pro)	rs193922247
NM_000155.4(GALT):c.213dup (p.Asn72fs)	rs2492862390
NM_000155.4(GALT):c.221T>C (p.Leu74Pro)	rs111033663
NM_000155.4(GALT):c.238C>T (p.Arg80Ter)	rs111033664
NM_000155.4(GALT):c.267C>G (p.Tyr89Ter)	rs145628307
NM_000155.4(GALT):c.292G>C (p.Asp98His)	rs111033670
NM_000155.4(GALT):c.404C>G (p.Ser135Trp)	rs111033690
NM_000155.4(GALT):c.41delinsTT (p.Ala14fs)	rs111033634
NM_000155.4(GALT):c.428C>T (p.Ser143Leu)	rs111033697
NM_000155.4(GALT):c.502G>T (p.Val168Leu)	rs367543258
NM_000155.4(GALT):c.513del (p.Phe171fs)	rs886044409
NM_000155.4(GALT):c.552C>A (p.His184Gln)	rs111033717
NM_000155.4(GALT):c.598del (p.Gln200fs)	rs111033738
NM_000155.4(GALT):c.619C>T (p.Gln207Ter)	rs111033743
NM_000155.4(GALT):c.626A>C (p.Tyr209Ser)	rs111033744
NM_000155.4(GALT):c.634C>T (p.Gln212Ter)	rs111033746
NM_000155.4(GALT):c.667C>A (p.Arg223Ser)	rs111033750
NM_000155.4(GALT):c.719_728del (p.Leu240fs)	rs111033838
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.904+1G>T	rs367543271
NM_000155.4(GALT):c.905-2A>G	rs398123187
NM_000155.4(GALT):c.957C>A (p.His319Gln)	rs111033792
NM_000155.4(GALT):c.98G>A (p.Arg33His)	rs111033829
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)	rs111033800
NM_000156.6(GAMT):c.1A>G (p.Met1Val)	rs796052527
NM_000156.6(GAMT):c.24del (p.Ile9fs)	rs967689898
NM_000156.6(GAMT):c.356dup (p.Asp119fs)	rs2144637533
NM_000156.6(GAMT):c.403G>T (p.Asp135Tyr)	rs774144200
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp)	rs760101382
NM_000156.6(GAMT):c.526del (p.Glu176fs)	rs2144636246
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	rs421016
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)	rs421016
NM_000158.4(GBE1):c.1053del (p.Phe351fs)	rs2471744884
NM_000158.4(GBE1):c.1336-1G>A	rs375253942
NM_000158.4(GBE1):c.143+2T>C	rs2107250439
NM_000158.4(GBE1):c.144-1G>C	rs1705762883
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys)	rs80338672
NM_000158.4(GBE1):c.1618+1G>A	rs1703670302
NM_000158.4(GBE1):c.1675_1676dup (p.Ser559fs)	rs1412857849
NM_000158.4(GBE1):c.167del (p.Ile55_Leu56insTer)	rs2471917613
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer)	rs1367364158
NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter)	rs201029706
NM_000158.4(GBE1):c.1825G>T (p.Glu609Ter)	rs772802187
NM_000158.4(GBE1):c.2052+1G>A	rs2106809795
NM_000158.4(GBE1):c.26del (p.Ala9fs)	rs1391883361
NM_000158.4(GBE1):c.321G>A (p.Trp107Ter)	rs2107114808
NM_000158.4(GBE1):c.336C>A (p.Tyr112Ter)	rs773473771
NM_000158.4(GBE1):c.47del (p.Ala16fs)	rs2107250805
NM_000158.4(GBE1):c.480G>A (p.Trp160Ter)	rs776943352
NM_000158.4(GBE1):c.505del (p.Asp169fs)	rs1370223073
NM_000158.4(GBE1):c.691+1G>A	rs2471826054
NM_000158.4(GBE1):c.691+5G>C	rs397515344
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu)	rs754525424
NM_000158.4(GBE1):c.909_912del (p.Phe303fs)	rs2107059544
NM_000158.4(GBE1):c.998A>T (p.Glu333Val)	rs1553684545
NM_000159.4(GCDH):c.1082+2T>C	rs2145954110
NM_000159.4(GCDH):c.1115G>A (p.Arg372Lys)	rs1555751240
NM_000159.4(GCDH):c.1157G>A (p.Arg386Gln)	rs398123190
NM_000159.4(GCDH):c.1157G>C (p.Arg386Pro)	rs398123190
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.1175A>G (p.Asn392Ser)	rs2145955095
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln)	rs786204626
NM_000159.4(GCDH):c.1244-2A>G	rs199999619
NM_000159.4(GCDH):c.127+1G>T	rs1473339589
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met)	rs745360675
NM_000159.4(GCDH):c.1298C>A (p.Ala433Glu)	rs933624223
NM_000159.4(GCDH):c.148T>C (p.Trp50Arg)	rs758646992
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.257C>G (p.Ala86Gly)	rs1970568352
NM_000159.4(GCDH):c.262C>A (p.Arg88Ser)	rs142967670
NM_000159.4(GCDH):c.263G>A (p.Arg88His)	rs1970568682
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)	rs566417795
NM_000159.4(GCDH):c.281G>T (p.Arg94Leu)	rs566417795
NM_000159.4(GCDH):c.301G>A (p.Gly101Arg)	rs1273164833
NM_000159.4(GCDH):c.329_332del (p.Ile110fs)	rs1555749434
NM_000159.4(GCDH):c.337T>C (p.Tyr113His)	rs1555749853
NM_000159.4(GCDH):c.345_349del (p.Cys115fs)	rs2512567782
NM_000159.4(GCDH):c.416C>G (p.Ser139Trp)	rs139851890
NM_000159.4(GCDH):c.442G>A (p.Val148Ile)	rs1003611285
NM_000159.4(GCDH):c.464A>G (p.Tyr155Cys)	rs2512568101
NM_000159.4(GCDH):c.566G>C (p.Ser189Thr)	rs764774411
NM_000159.4(GCDH):c.655G>A (p.Ala219Thr)	rs1970675055
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter)	rs786205862
NM_000159.4(GCDH):c.683G>T (p.Cys228Phe)	rs1970675873
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp)	rs964724051
NM_000159.4(GCDH):c.706T>C (p.Phe236Leu)	rs747920711
NM_000159.4(GCDH):c.751C>T (p.Gln251Ter)	rs1008834111
NM_000159.4(GCDH):c.764C>A (p.Ser255Ter)	rs758503371
NM_000159.4(GCDH):c.776C>T (p.Ser259Leu)	rs367699815
NM_000159.4(GCDH):c.79del (p.Ala27fs)	rs1057516939
NM_000159.4(GCDH):c.853-2A>G	rs1057517410
NM_000159.4(GCDH):c.885C>A (p.Tyr295Ter)	rs139192015
NM_000159.4(GCDH):c.896G>A (p.Trp299Ter)	rs1599616676
NM_000159.4(GCDH):c.91+5G>A	rs952356983
NM_000159.4(GCDH):c.932dup (p.Ala312fs)	rs1970695925
NM_000162.5(GCK):c.391T>C (p.Ser131Pro)	rs104894010
NM_000169.3(GLA):c.886A>G (p.Met296Val)	rs104894830
NM_000170.3(GLDC):c.2293C>T (p.Pro765Ser)	rs386833551
NM_000170.3(GLDC):c.793del (p.Gln265fs)	rs386833586
NM_000173.7(GP1BA):c.673T>C (p.Cys225Arg)	rs1394634674
NM_000179.3(MSH6):c.3173-1_3173del	rs587779256
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)	rs267608122
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.1844dup (p.Asn615fs)	rs1669575714
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.2027G>A (p.Arg676His)	rs1204190984
NM_000182.5(HADHA):c.2146+1G>A	rs794727219
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.914T>A (p.Ile305Asn)	rs137852774
NM_000183.3(HADHB):c.1112del (p.Asn371fs)	rs1672918134
NM_000183.3(HADHB):c.198_205dup (p.Thr69fs)	rs1376142506
NM_000183.3(HADHB):c.811+82A>G	rs757303269
NM_000183.3(HADHB):c.881C>G (p.Pro294Arg)	rs1558357879
NM_000183.3(HADHB):c.962del (p.Met321fs)	rs2465730692
NM_000188.3(HK1):c.1370C>T (p.Thr457Met)	rs1057517928
NM_000190.4(HMBS):c.826-2A>T	rs1946317952
NM_000191.3(HMGCL):c.109G>A (p.Glu37Lys)	rs763494292
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs)	rs752137615
NM_000191.3(HMGCL):c.252+1G>A	rs775218067
NM_000191.3(HMGCL):c.286del (p.Gln96fs)	rs1184002840
NM_000191.3(HMGCL):c.349_361del	rs2521441733
NM_000191.3(HMGCL):c.501C>A (p.Tyr167Ter)	rs200189529
NM_000191.3(HMGCL):c.521G>A (p.Cys174Tyr)	rs765475941
NM_000191.3(HMGCL):c.528T>A (p.Tyr176Ter)	rs112508527
NM_000191.3(HMGCL):c.562-1G>A	rs2521405619
NM_000191.3(HMGCL):c.610del (p.Asp204fs)	rs2148419170
NM_000191.3(HMGCL):c.866del (p.Gly289fs)	rs1638362423
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)	rs786205431
NM_000195.5(HPS1):c.1189del (p.Gln397fs)	rs281865084
NM_000195.5(HPS1):c.1513C>T (p.Gln505Ter)	rs769446880
NM_000195.5(HPS1):c.1657C>T (p.Gln553Ter)	rs1591031929
NM_000195.5(HPS1):c.1932del (p.Tyr645fs)	rs1239621485
NM_000195.5(HPS1):c.233_242del (p.Asn78fs)	rs773323079
NM_000195.5(HPS1):c.780dup (p.Arg261fs)	rs2136197089
NM_000195.5(HPS1):c.962del (p.Gly321fs)	rs281865081
NM_000195.5(HPS1):c.972dup (p.Met325fs)	rs281865082
NM_000195.5(HPS1):c.97_100del (p.Ser33fs)	rs2136327710
NM_000195.5(HPS1):c.9C>A (p.Cys3Ter)	rs750909242
NM_000199.5(SGSH):c.1091_1103del (p.Ser364fs)	rs1567915763
NM_000199.5(SGSH):c.1130G>A (p.Arg377His)	rs746037899
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg)	rs398123244
NM_000199.5(SGSH):c.1317C>A (p.Tyr439Ter)	rs146522699
NM_000199.5(SGSH):c.1345C>T (p.Gln449Ter)	rs755951235
NM_000199.5(SGSH):c.1375C>T (p.Gln459Ter)	rs1567914459
NM_000199.5(SGSH):c.1380del (p.Leu461fs)	rs1555620092
NM_000199.5(SGSH):c.1412G>A (p.Trp471Ter)	rs2144689256
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg)	rs774010006
NM_000199.5(SGSH):c.268G>C (p.Gly90Arg)	rs774010006
NM_000199.5(SGSH):c.301_303del (p.Phe101del)	rs1567924625
NM_000199.5(SGSH):c.398del (p.Pro133fs)	rs2144749648
NM_000199.5(SGSH):c.466A>T (p.Lys156Ter)	rs2041818115
NM_000199.5(SGSH):c.490C>T (p.Gln164Ter)	rs1598749661
NM_000199.5(SGSH):c.506+1G>A	rs763063355
NM_000199.5(SGSH):c.535G>A (p.Asp179Asn)	rs774773010
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro)	rs104894643
NM_000199.5(SGSH):c.645C>A (p.Tyr215Ter)	rs151227799
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu)	rs34520362
NM_000199.5(SGSH):c.691_698del (p.Ala231fs)	rs761216892
NM_000199.5(SGSH):c.693_705del (p.Ala232fs)	rs2041772144
NM_000199.5(SGSH):c.733C>T (p.Arg245Cys)	rs1455698449
NM_000199.5(SGSH):c.745+1G>C	rs748525651
NM_000199.5(SGSH):c.757del (p.Val253fs)	rs760281672
NM_000199.5(SGSH):c.7_16del (p.Cys3fs)	rs2510930697
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg)	rs765361603
NM_000199.5(SGSH):c.909del (p.Lys303fs)	rs775136193
NM_000199.5(SGSH):c.949+1G>A	rs766840480
NM_000202.8(IDS):c.404A>G (p.Lys135Arg)	rs104894861
NM_000202.8(IDS):c.525T>A (p.Asp175Glu)	rs2089452549
NM_000218.3(KCNQ1):c.1051T>C (p.Phe351Leu)	rs779383393
NM_000228.3(LAMB3):c.2842del (p.Val948fs)	rs772421306
NM_000231.3(SGCG):c.195+4_195+7del	rs797045106
NM_000231.3(SGCG):c.216T>A (p.Cys72Ter)	rs1474297447
NM_000231.3(SGCG):c.260T>G (p.Leu87Ter)	rs2541900264
NM_000231.3(SGCG):c.298-2A>G	rs1555240119
NM_000231.3(SGCG):c.386-2A>C	rs886042757
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter)	rs1881865054
NM_000231.3(SGCG):c.533C>G (p.Ser178Ter)	rs1011397929
NM_000231.3(SGCG):c.579-2A>G	rs754415994
NM_000231.3(SGCG):c.66T>A (p.Tyr22Ter)	rs376410504
NM_000231.3(SGCG):c.702+1G>A	rs1555248000
NM_000231.3(SGCG):c.786C>G (p.Tyr262Ter)	rs759316719
NM_000231.3(SGCG):c.800_801del (p.Cys267fs)	rs780348174
NM_000231.3(SGCG):c.801_802del (p.Pro268fs)	rs2137534216
NM_000231.3(SGCG):c.824_827del (p.Ser275fs)	rs1361450354
NM_000231.3(SGCG):c.92G>A (p.Trp31Ter)	rs2500525030
NM_000232.5(SGCB):c.-10_16dup (p.Ala6fs)	rs2475237449
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs)	rs1553940963
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs)	rs1207685911
NM_000232.5(SGCB):c.-15_8dup (p.Ala5fs)	rs1057517205
NM_000232.5(SGCB):c.102del (p.Glu35fs)	rs2109376007
NM_000232.5(SGCB):c.165_166del (p.Gly56fs)	rs2475230212
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.30del (p.Glu10fs)	rs2109380824
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter)	rs750773622
NM_000232.5(SGCB):c.391C>T (p.Arg131Ter)	rs1013015106
NM_000232.5(SGCB):c.551_552del (p.Asp183_Tyr184insTer)	rs1057517051
NM_000232.5(SGCB):c.595_598del (p.Asn199fs)	rs762114570
NM_000232.5(SGCB):c.656_657del (p.Lys219fs)	rs775458201
NM_000232.5(SGCB):c.82G>T (p.Glu28Ter)	rs771814273
NM_000235.4(LIPA):c.929G>A (p.Trp310Ter)	rs2133413584
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	rs61732874
NM_000249.4(MLH1):c.-28A>T	rs56198082
NM_000249.4(MLH1):c.1038G>A (p.Gln346=)	rs63751715
NM_000249.4(MLH1):c.1039-1G>A	rs267607819
NM_000249.4(MLH1):c.1211del (p.Leu404fs)	rs2471123696
NM_000249.4(MLH1):c.1255del (p.Ile419fs)	rs2471126138
NM_000249.4(MLH1):c.1409+1G>A	rs267607825
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.1500_1502del (p.Ile501del)	rs587778920
NM_000249.4(MLH1):c.1502_1503delinsA (p.Ile501fs)	rs1553653084
NM_000249.4(MLH1):c.1582_1583insGGTT (p.His528fs)	rs2471313402
NM_000249.4(MLH1):c.1714G>A (p.Gly572Ser)	rs587781796
NM_000249.4(MLH1):c.1740_1753del (p.Pro581fs)	rs1553662622
NM_000249.4(MLH1):c.1841_1842del (p.Phe614fs)	rs2471434803
NM_000249.4(MLH1):c.1858del (p.Glu620fs)	rs786203456
NM_000249.4(MLH1):c.1897-2A>G	rs267607871
NM_000249.4(MLH1):c.193_201delinsC (p.Gly65fs)	rs2125711616
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser)	rs63750899
NM_000249.4(MLH1):c.1989+5G>T	rs267607878
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)	rs63750206
NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg)	rs63750809
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)	rs63750217
NM_000249.4(MLH1):c.2070_2071insTT (p.Ile691fs)	rs876659681
NM_000249.4(MLH1):c.2080_2081inv (p.Glu694Ser)
NM_000249.4(MLH1):c.2159T>G (p.Val720Gly)	rs587778985
NM_000249.4(MLH1):c.2187_2190dup (p.Pro731fs)	rs2471505083
NM_000249.4(MLH1):c.2239C>T (p.Pro747Ser)	rs587779958
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr)	rs63750437
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)	rs63750453
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp)	rs63751665
NM_000249.4(MLH1):c.366_369del (p.Lys123fs)	rs2470806854
NM_000249.4(MLH1):c.380+2T>C	rs267607742
NM_000249.4(MLH1):c.393del (p.Asp132fs)	rs2081922847
NM_000249.4(MLH1):c.404_407del (p.Leu135fs)	rs587779014
NM_000249.4(MLH1):c.677+3A>T	rs267607780
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu)	rs63751711
NM_000249.4(MLH1):c.790+4A>G	rs267607786
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser)	rs63751194
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)	rs63751194
NM_000249.4(MLH1):c.884+4A>G	rs267607777
NM_000249.4(MLH1):c.927dup (p.Thr310fs)	rs1553647995
NM_000249.4(MLH1):c.986A>C (p.His329Pro)	rs63750710
NM_000249.4(MLH1):c.9C>A (p.Phe3Leu)	rs779759678
NM_000249.4(MLH1):c.9_21del (p.Phe3fs)	rs1064795341
NM_000250.2(MPO):c.1555_1568del (p.Met519fs)	rs536522394
NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg)	rs63751004
NM_000251.3(MSH2):c.1027A>G (p.Asn343Asp)	rs587779961
NM_000251.3(MSH2):c.1042del (p.Gln348fs)	rs1553353233
NM_000251.3(MSH2):c.1046C>T (p.Pro349Leu)	rs587779067
NM_000251.3(MSH2):c.1098_1099insTC (p.Val367fs)	rs2465986626
NM_000251.3(MSH2):c.1139T>G (p.Leu380Ter)	rs730881755
NM_000251.3(MSH2):c.1191A>T (p.Gln397His)	rs768694189
NM_000251.3(MSH2):c.126C>G (p.Phe42Leu)	rs730881766
NM_000251.3(MSH2):c.1276+2T>C	rs267607953
NM_000251.3(MSH2):c.1303G>T (p.Val435Phe)	rs876658240
NM_000251.3(MSH2):c.1339_1340del (p.Phe447fs)	rs1553361231
NM_000251.3(MSH2):c.1401del (p.Glu467fs)	rs1553365711
NM_000251.3(MSH2):c.1510+2T>C	rs1060502023
NM_000251.3(MSH2):c.1511-2A>G	rs267607962
NM_000251.3(MSH2):c.1563T>A (p.Tyr521Ter)	rs63750330
NM_000251.3(MSH2):c.160G>T (p.Ala54Ser)	rs749212640
NM_000251.3(MSH2):c.1613dup (p.Asn538fs)	rs1558511092
NM_000251.3(MSH2):c.1706A>G (p.Glu569Gly)	rs786201077
NM_000251.3(MSH2):c.174C>A (p.Phe58Leu)	rs372189599
NM_000251.3(MSH2):c.174C>G (p.Phe58Leu)	rs372189599
NM_000251.3(MSH2):c.1813G>A (p.Val605Ile)	rs730881777
NM_000251.3(MSH2):c.2004delinsCA (p.Gly669fs)	rs876659961
NM_000251.3(MSH2):c.2006-2A>G	rs267607991
NM_000251.3(MSH2):c.2010dup (p.Asn671fs)	rs63751123
NM_000251.3(MSH2):c.2041C>G (p.Gln681Glu)	rs730881762
NM_000251.3(MSH2):c.2074G>T (p.Gly692Trp)	rs63750232
NM_000251.3(MSH2):c.2090G>C (p.Cys697Ser)	rs63750398
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)	rs587782659
NM_000251.3(MSH2):c.2251G>A (p.Gly751Arg)	rs63751119
NM_000251.3(MSH2):c.2288C>T (p.Ala763Val)	rs144412585
NM_000251.3(MSH2):c.2321T>C (p.Ile774Thr)	rs878853811
NM_000251.3(MSH2):c.2342del (p.Ala781fs)	rs2528987038
NM_000251.3(MSH2):c.2354A>C (p.His785Pro)	rs200252727
NM_000251.3(MSH2):c.2365del (p.Ala789fs)	rs2528988982
NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter)	rs202145681
NM_000251.3(MSH2):c.2503A>G (p.Asn835Asp)	rs41295296
NM_000251.3(MSH2):c.2634+5G>C	rs267608017
NM_000251.3(MSH2):c.2635-1G>A	rs267608020
NM_000251.3(MSH2):c.2726A>T (p.Lys909Ile)	rs34319539
NM_000251.3(MSH2):c.388C>T (p.Gln130Ter)	rs1060501989
NM_000251.3(MSH2):c.403C>G (p.Leu135Val)	rs193096019
NM_000251.3(MSH2):c.403C>T (p.Leu135Phe)	rs193096019
NM_000251.3(MSH2):c.448_449del (p.Gly149_Val150insTer)	rs2465704185
NM_000251.3(MSH2):c.592G>A (p.Glu198Lys)	rs587779166
NM_000251.3(MSH2):c.748G>T (p.Gly250Ter)	rs864622183
NM_000251.3(MSH2):c.870_874del (p.Glu290fs)	rs1114167848
NM_000251.3(MSH2):c.888C>G (p.Phe296Leu)	rs876659918
NM_000251.3(MSH2):c.89C>T (p.Pro30Leu)	rs757892928
NM_000251.3(MSH2):c.942+3A>C	rs193922376
NM_000251.3(MSH2):c.964G>A (p.Gly322Ser)	rs773301485
NM_000251.3(MSH2):c.965G>T (p.Gly322Val)	rs4987188
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)	rs63750828
NM_000252.3(MTM1):c.1261-10A>G	rs397518445
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly)	rs397515905
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp)	rs727503188
NM_000256.3(MYBPC3):c.3330+5G>C	rs373746463
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter)	rs727504289
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)	rs730880674
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro)	rs187705120
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs)	rs111033347
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro)	rs1385324903
NM_000264.5(PTCH1):c.158C>T (p.Pro53Leu)	rs372546614
NM_000270.4(PNP):c.286-18G>A	rs1026474882
NM_000271.5(NPC1):c.1223T>C (p.Leu408Pro)	rs1567965313
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe)	rs145362908
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter)	rs786204512
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)	rs80358254
NM_000271.5(NPC1):c.839del (p.Leu280fs)	rs1057518711
NM_000274.4(OAT):c.1186C>T (p.Arg396Ter)	rs121965036
NM_000274.4(OAT):c.159del (p.His53fs)	rs386833599
NM_000274.4(OAT):c.182_189del (p.Ala61fs)	rs2494523429
NM_000274.4(OAT):c.192_193del (p.Gly65fs)	rs386833600
NM_000274.4(OAT):c.198del (p.Gly67fs)	rs1432416419
NM_000274.4(OAT):c.461G>T (p.Arg154Leu)	rs121965039
NM_000274.4(OAT):c.515_516del (p.Phe172fs)	rs2134476898
NM_000274.4(OAT):c.533_537del (p.Phe177_Trp178insTer)	rs386833612
NM_000274.4(OAT):c.776del (p.Leu259fs)	rs2134456729
NM_000274.4(OAT):c.780del (p.Phe260fs)	rs2134456707
NM_000274.4(OAT):c.812G>A (p.Arg271Lys)	rs121965042
NM_000274.4(OAT):c.824G>A (p.Trp275Ter)	rs267606924
NM_000274.4(OAT):c.896dup (p.Tyr299Ter)	rs2134456170
NM_000274.4(OAT):c.952del (p.Glu318fs)	rs386833620
NM_000274.4(OAT):c.966del (p.Tyr323fs)	rs1951417940
NM_000274.4(OAT):c.97dup (p.Thr33fs)	rs1375779674
NM_000274.4(OAT):c.994G>A (p.Val332Met)	rs121965047
NM_000275.3(OCA2):c.1056_1062del (p.Thr353fs)	rs2041525028
NM_000275.3(OCA2):c.131del (p.Gly44fs)	rs780625433
NM_000275.3(OCA2):c.1349C>A (p.Thr450Lys)	rs772019064
NM_000275.3(OCA2):c.1456del (p.Asp486fs)	rs2548339012
NM_000275.3(OCA2):c.163dup (p.Ala55fs)	rs1254334474
NM_000275.3(OCA2):c.173_176dup (p.Ser59fs)	rs2548671260
NM_000275.3(OCA2):c.1922C>T (p.Ser641Leu)	rs868238523
NM_000275.3(OCA2):c.1954T>A (p.Trp652Arg)	rs886043514
NM_000275.3(OCA2):c.2055dup (p.Ala686fs)	rs772595552
NM_000275.3(OCA2):c.2177_2181del (p.Val726fs)	rs771620099
NM_000275.3(OCA2):c.2323G>A (p.Gly775Ser)	rs774822330
NM_000275.3(OCA2):c.2324G>A (p.Gly775Asp)	rs987780496
NM_000275.3(OCA2):c.2338+2T>G	rs1064796956
NM_000275.3(OCA2):c.409_415del (p.Arg137fs)	rs2548495539
NM_000275.3(OCA2):c.463A>T (p.Lys155Ter)	rs2548495233
NM_000275.3(OCA2):c.535A>G (p.Lys179Glu)	rs1277911369
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)	rs767489236
NM_000275.3(OCA2):c.74_78del (p.Pro25fs)	rs747408689
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal)	rs797044784
NM_000275.3(OCA2):c.831T>A (p.Tyr277Ter)	rs759876062
NM_000277.3(PAH):c.1002C>A (p.Cys334Ter)	rs140243918
NM_000277.3(PAH):c.1031G>A (p.Gly344Asp)	rs62508582
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr)	rs62516062
NM_000277.3(PAH):c.1045T>G (p.Ser349Ala)	rs62508646
NM_000277.3(PAH):c.1054G>T (p.Gly352Cys)	rs62508686
NM_000277.3(PAH):c.1065+1G>T	rs62516147
NM_000277.3(PAH):c.1065+241C>A	rs2136636327
NM_000277.3(PAH):c.1066-13T>G	rs1435691439
NM_000277.3(PAH):c.1066-14C>G	rs62507334
NM_000277.3(PAH):c.1089del (p.Lys363fs)	rs5030654
NM_000277.3(PAH):c.1097C>A (p.Pro366His)	rs62516098
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del)	rs199475565
NM_000277.3(PAH):c.1172G>T (p.Ser391Ile)	rs869312997
NM_000277.3(PAH):c.1187A>G (p.Lys396Arg)	rs776178623
NM_000277.3(PAH):c.1194A>G (p.Lys398=)	rs199475638
NM_000277.3(PAH):c.1199+1G>A	rs62509015
NM_000277.3(PAH):c.1199+1G>C	rs62509015
NM_000277.3(PAH):c.1237C>A (p.Arg413Ser)	rs62644467
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.1262T>C (p.Ile421Thr)	rs199475696
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp)	rs199475659
NM_000277.3(PAH):c.1315+2T>C	rs1799970
NM_000277.3(PAH):c.1315+4A>G	rs62508649
NM_000277.3(PAH):c.1315+6T>A	rs62508650
NM_000277.3(PAH):c.1357_*2del (p.Ter453ProextTer?)	rs794727086
NM_000277.3(PAH):c.169_171del	rs199475665
NM_000277.3(PAH):c.183C>A (p.Asn61Lys)	rs199475634
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.352+1G>A	rs199475684
NM_000277.3(PAH):c.357del (p.Trp120fs)	rs794727619
NM_000277.3(PAH):c.385G>T (p.Asp129Tyr)	rs199475606
NM_000277.3(PAH):c.428A>G (p.Asp143Gly)	rs199475572
NM_000277.3(PAH):c.439C>T (p.Pro147Ser)	rs199475624
NM_000277.3(PAH):c.441+3G>C	rs62508642
NM_000277.3(PAH):c.441+6T>A	rs199475698
NM_000277.3(PAH):c.442-2A>C	rs281865448
NM_000277.3(PAH):c.460T>C (p.Tyr154His)	rs199475587
NM_000277.3(PAH):c.462C>A (p.Tyr154Ter)	rs1191473722
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer)	rs62642906
NM_000277.3(PAH):c.500A>T (p.Asn167Ile)	rs77554925
NM_000277.3(PAH):c.510-2A>G	rs1555204750
NM_000277.3(PAH):c.510T>A (p.His170Gln)	rs199475652
NM_000277.3(PAH):c.527G>A (p.Arg176Gln)	rs74486803
NM_000277.3(PAH):c.527G>T (p.Arg176Leu)	rs74486803
NM_000277.3(PAH):c.529G>A (p.Val177Met)	rs199475602
NM_000277.3(PAH):c.529G>C (p.Val177Leu)	rs199475602
NM_000277.3(PAH):c.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.591G>C (p.Leu197Phe)	rs281865442
NM_000277.3(PAH):c.592_613del (p.Tyr198fs)	rs199475697
NM_000277.3(PAH):c.610dup (p.Tyr204fs)	rs1555204711
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.671T>C (p.Ile224Thr)	rs62507323
NM_000277.3(PAH):c.707-12_711del	rs1555204492
NM_000277.3(PAH):c.722G>T (p.Arg241Leu)	rs62508730
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.740G>A (p.Gly247Asp)	rs199475579
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.805A>C (p.Ile269Leu)	rs62508692
NM_000277.3(PAH):c.824C>G (p.Pro275Arg)	rs62508715
NM_000277.3(PAH):c.826A>G (p.Met276Val)	rs62516149
NM_000277.3(PAH):c.827T>G (p.Met276Arg)	rs62508722
NM_000277.3(PAH):c.833C>A (p.Thr278Asn)	rs62507262
NM_000277.3(PAH):c.836C>T (p.Pro279Leu)	rs796064503
NM_000277.3(PAH):c.845A>G (p.Asp282Gly)	rs199475660
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.929C>T (p.Ser310Phe)	rs62642913
NM_000277.3(PAH):c.935G>A (p.Gly312Asp)	rs62642915
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_000277.3(PAH):c.992T>G (p.Phe331Cys)	rs199475614
NM_000282.4(PCCA):c.1349C>G (p.Ser450Ter)	rs2548143083
NM_000282.4(PCCA):c.1353+5_1353+9del	rs764045674
NM_000282.4(PCCA):c.1495del (p.Ile499fs)	rs2548249489
NM_000282.4(PCCA):c.1561G>T (p.Glu521Ter)	rs2071086995
NM_000282.4(PCCA):c.183+1G>A	rs757540625
NM_000282.4(PCCA):c.184-1G>A	rs879253807
NM_000282.4(PCCA):c.1847_1848del	rs2548793417
NM_000282.4(PCCA):c.1899+4_1899+7del	rs794727334
NM_000282.4(PCCA):c.2027del (p.Lys676fs)	rs1555327702
NM_000282.4(PCCA):c.2040G>A (p.Ala680=)	rs369982920
NM_000282.4(PCCA):c.2041-1G>T	rs1367867218
NM_000282.4(PCCA):c.2103del (p.Thr704fs)	rs1555331314
NM_000282.4(PCCA):c.2119-2A>G	rs867315913
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs)	rs749875940
NM_000282.4(PCCA):c.284del (p.Asp95fs)	rs775825345
NM_000282.4(PCCA):c.39del (p.Ala14fs)	rs1593996563
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr)	rs202247814
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp)	rs796052019
NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer)	rs1555361758
NM_000282.4(PCCA):c.497del (p.Pro166fs)	rs2547726575
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.734C>A (p.Ser245Ter)	rs1594992191
NM_000282.4(PCCA):c.843del (p.Asn281fs)	rs1555400381
NM_000282.4(PCCA):c.862A>G (p.Arg288Gly)	rs121964957
NM_000282.4(PCCA):c.866_867del (p.Glu289fs)	rs760976198
NM_000282.4(PCCA):c.915-1G>C	rs367615795
NM_000284.4(PDHA1):c.265G>A (p.Gly89Ser)	rs1569190092
NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys)	rs1569190962
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)	rs1555933963
NM_000284.4(PDHA1):c.523G>A (p.Ala175Thr)	rs1569191372
NM_000284.4(PDHA1):c.821G>C (p.Arg274Thr)	rs2063192867
NM_000286.3(PEX12):c.140C>G (p.Ser47Ter)	rs2509170684
NM_000286.3(PEX12):c.223_224del (p.Leu75fs)	rs1555549876
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter)	rs776731688
NM_000286.3(PEX12):c.511del (p.Glu171fs)	rs945104524
NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del)	rs61752102
NM_000286.3(PEX12):c.543C>A (p.Tyr181Ter)	rs192653658
NM_000286.3(PEX12):c.573_574dup (p.Leu192fs)	rs2072790040
NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer)	rs1238451790
NM_000286.3(PEX12):c.789G>A (p.Trp263Ter)	rs747099919
NM_000286.3(PEX12):c.842del (p.Thr281fs)	rs2072782816
NM_000286.3(PEX12):c.910_911del (p.Cys304fs)	rs867245161
NM_000286.3(PEX12):c.920_921del (p.Cys307fs)	rs2142228928
NM_000286.3(PEX12):c.961_964del (p.Gly321fs)	rs749650201
NM_000286.3(PEX12):c.969_970del (p.Phe324fs)	rs2072781707
NM_000286.3(PEX12):c.987_988del (p.Phe330fs)	rs764657253
NM_000287.4(PEX6):c.1338_1339del (p.Ala447fs)	rs398123303
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile)	rs61753224
NM_000287.4(PEX6):c.311del (p.Gly104fs)	rs61753209
NM_000287.4(PEX6):c.882+1G>A	rs267608207
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs)	rs62636519
NM_000288.4(PEX7):c.183del (p.Phe61fs)	rs774131564
NM_000288.4(PEX7):c.188+1G>A	rs267608254
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter)	rs763514968
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro)	rs61753233
NM_000288.4(PEX7):c.488G>A (p.Trp163Ter)	rs1173171051
NM_000288.4(PEX7):c.549G>A (p.Trp183Ter)	rs753283873
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe)	rs61753236
NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln)	rs267608257
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter)	rs1064795749
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro)	rs121918193
NM_000289.6(PFKM):c.1338del (p.Gln447fs)	rs2135995131
NM_000289.6(PFKM):c.1607del (p.Gly535_Ser536insTer)	rs866260025
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)	rs1392144132
NM_000289.6(PFKM):c.2080_2081del (p.Ser694fs)	rs1233958453
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter)	rs121918195
NM_000289.6(PFKM):c.539C>G (p.Ser180Cys)	rs2498313549
NM_000289.6(PFKM):c.736C>T (p.Arg246Ter)	rs866904446
NM_000294.3(PHKG2):c.927+13G>A	rs371298131
NM_000295.5(SERPINA1):c.-5+1G>A	rs775786225
NM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA (p.Glu370fs)	rs864622043
NM_000295.5(SERPINA1):c.1158del (p.Glu387fs)	rs764325655
NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs)	rs764325655
NM_000295.5(SERPINA1):c.475A>T (p.Lys159Ter)	rs2504776911
NM_000295.5(SERPINA1):c.480del (p.Lys160fs)	rs2504776767
NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter)	rs864622051
NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter)	rs199422210
NM_000295.5(SERPINA1):c.611_612del (p.Thr204fs)	rs921982028
NM_000295.5(SERPINA1):c.647del	rs1555368758
NM_000295.5(SERPINA1):c.866dup (p.Asn289fs)	rs1555368557
NM_000303.3(PMM2):c.131T>C (p.Val44Ala)	rs104894534
NM_000303.3(PMM2):c.157C>T (p.Gln53Ter)	rs1057520708
NM_000303.3(PMM2):c.16_22del (p.Pro6fs)	rs2141014102
NM_000303.3(PMM2):c.179-1G>C	rs1166138838
NM_000303.3(PMM2):c.190del (p.Tyr64fs)	rs1339004837
NM_000303.3(PMM2):c.196dup (p.Tyr66fs)	rs756848112
NM_000303.3(PMM2):c.201_202del (p.Phe68fs)	rs1343161886
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser)	rs769648248
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr)	rs104894532
NM_000303.3(PMM2):c.348-2A>G	rs1555449603
NM_000303.3(PMM2):c.385G>A (p.Val129Met)	rs104894525
NM_000303.3(PMM2):c.414del (p.Glu139fs)	rs755008774
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala)	rs958073558
NM_000303.3(PMM2):c.451_454del	rs1274794195
NM_000303.3(PMM2):c.488_491del (p.Lys163fs)	rs2060678732
NM_000303.3(PMM2):c.55del (p.Ala19fs)	rs1596481889
NM_000303.3(PMM2):c.561G>A (p.Trp187Ter)	rs201855351
NM_000303.3(PMM2):c.573C>A (p.Tyr191Ter)	rs201440361
NM_000303.3(PMM2):c.584_585del (p.His195fs)	rs2060686496
NM_000303.3(PMM2):c.617del (p.Phe206fs)	rs1555449810
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp)	rs758340382
NM_000303.3(PMM2):c.639+1G>A	rs1057517183
NM_000303.3(PMM2):c.640-23A>G	rs981372486
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile)	rs78290141
NM_000303.3(PMM2):c.66+1del	rs1555495965
NM_000303.3(PMM2):c.667G>A (p.Asp223Asn)	rs201960869
NM_000303.3(PMM2):c.669C>A (p.Asp223Glu)	rs104894531
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser)	rs80338706
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys)	rs558826439
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter)	rs763091085
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)	rs80338708
NM_000303.3(PMM2):c.710C>T (p.Thr237Met)	rs80338708
NM_000303.3(PMM2):c.713G>C (p.Arg238Pro)	rs151319324
NM_000303.3(PMM2):c.72del (p.Thr25fs)	rs2060617981
NM_000303.3(PMM2):c.79G>T (p.Glu27Ter)	rs747777230
NM_000310.4(PPT1):c.163A>T (p.Lys55Ter)	rs386833633
NM_000310.4(PPT1):c.169dup (p.Met57fs)	rs386833634
NM_000310.4(PPT1):c.175del (p.Glu59fs)	rs386833635
NM_000310.4(PPT1):c.29_41del (p.Leu10fs)	rs762226836
NM_000310.4(PPT1):c.362+5G>A	rs796052924
NM_000310.4(PPT1):c.398del (p.Met133fs)	rs386833644
NM_000310.4(PPT1):c.455del (p.Cys152fs)	rs886041568
NM_000310.4(PPT1):c.541G>C (p.Val181Leu)	rs148412181
NM_000310.4(PPT1):c.541G>T (p.Val181Leu)	rs148412181
NM_000310.4(PPT1):c.629_630dup (p.Ile211fs)	rs1302326945
NM_000310.4(PPT1):c.637G>T (p.Glu213Ter)	rs2523635810
NM_000310.4(PPT1):c.653dup (p.Asn218fs)	rs1057516889
NM_000310.4(PPT1):c.674T>C (p.Phe225Ser)	rs386833662
NM_000310.4(PPT1):c.713C>T (p.Pro238Leu)	rs878853322
NM_000310.4(PPT1):c.727-2A>T	rs386833664
NM_000310.4(PPT1):c.798+1G>T	rs878853929
NM_000310.4(PPT1):c.798+2T>C	rs1553166337
NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys)	rs876660634
NM_000314.8(PTEN):c.701G>A (p.Arg234Gln)	rs121909235
NM_000317.3(PTS):c.-24_9del	rs2135407114
NM_000317.3(PTS):c.108C>G (p.Asn36Lys)	rs1449216377
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.174_175del (p.Val59fs)	rs2135408968
NM_000317.3(PTS):c.238A>G (p.Met80Val)	rs1057517810
NM_000317.3(PTS):c.272A>G (p.Lys91Arg)	rs761285716
NM_000317.3(PTS):c.308T>C (p.Val103Ala)	rs1555198459
NM_000317.3(PTS):c.315-2A>G	rs1555198483
NM_000317.3(PTS):c.331G>A (p.Ala111Thr)	rs1367077861
NM_000317.3(PTS):c.379C>T (p.Leu127Phe)	rs1859971515
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_000317.3(PTS):c.74G>A (p.Arg25Gln)	rs104894273
NM_000317.3(PTS):c.78G>T (p.Leu26Phe)	rs1317230624
NM_000318.3(PEX2):c.171del (p.Ala58fs)	rs2487453331
NM_000318.3(PEX2):c.218del (p.Asn73fs)	rs1586070089
NM_000318.3(PEX2):c.232C>T (p.Gln78Ter)	rs1586070043
NM_000318.3(PEX2):c.310dup (p.Ile104fs)	rs1235008965
NM_000318.3(PEX2):c.314G>A (p.Trp105Ter)	rs1011185031
NM_000318.3(PEX2):c.325dup (p.Cys109fs)	rs1052655986
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)	rs764771123
NM_000318.3(PEX2):c.34_37del (p.Asn12fs)	rs1174648906
NM_000318.3(PEX2):c.354_355del (p.Arg119fs)	rs1554584505
NM_000318.3(PEX2):c.502G>T (p.Glu168Ter)	rs2487451701
NM_000318.3(PEX2):c.549_550del (p.Ile183fs)	rs756891007
NM_000318.3(PEX2):c.610_611del (p.Leu204fs)	rs2487451205
NM_000318.3(PEX2):c.79_80del (p.Lys27fs)	rs1261498405
NM_000321.3(RB1):c.1338C>A (p.Tyr446Ter)	rs1593455621
NM_000321.3(RB1):c.2094G>C (p.Arg698Ser)	rs1131690891
NM_000321.3(RB1):c.54_76dup (p.Pro26fs)	rs1555279210
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val)	rs1193631220
NM_000329.3(RPE65):c.246-11A>G	rs905365719
NM_000329.3(RPE65):c.859G>T (p.Val287Phe)	rs281865289
NM_000329.3(RPE65):c.93A>G (p.Thr31=)	rs2100834154
NM_000330.4(RS1):c.214G>A (p.Glu72Lys)	rs104894928
NM_000330.4(RS1):c.461A>G (p.Gln154Arg)	rs2147191205
NM_000330.4(RS1):c.574C>T (p.Pro192Ser)	rs61753174
NM_000330.4(RS1):c.598C>T (p.Arg200Cys)	rs281865357
NM_000335.5(SCN5A):c.2533del (p.Val845fs)	rs794728912
NM_000338.3(SLC12A1):c.2869dup (p.Ile957fs)	rs764247288
NM_000341.4(SLC3A1):c.1188C>G (p.Tyr396Ter)	rs374750983
NM_000346.4(SOX9):c.508C>G (p.Pro170Ala)	rs866706988
NM_000352.6(ABCC8):c.4412-13G>A	rs1008906426
NM_000353.3(TAT):c.1224G>T (p.Thr408=)	rs756743947
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_000353.3(TAT):c.707-2A>G	rs1005382525
NM_000353.3(TAT):c.814del (p.Ile272fs)	rs2044197900
NM_000353.3(TAT):c.825del (p.Cys275fs)	rs2145231253
NM_000359.3(TGM1):c.1147G>A (p.Val383Met)	rs121918722
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.1984C>T (p.Gln662Ter)	rs1555305725
NM_000359.3(TGM1):c.2060G>A (p.Arg687His)	rs2139018911
NM_000359.3(TGM1):c.2226-2A>G	rs752349623
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_000359.3(TGM1):c.984+1G>A	rs749160734
NM_000360.4(TH):c.1010C>T (p.Pro337Leu)	rs2133692289
NM_000360.4(TH):c.1035_1045del (p.Gln346fs)	rs1590166832
NM_000360.4(TH):c.1052T>C (p.Ile351Thr)	rs1554922725
NM_000360.4(TH):c.1125del (p.Glu375fs)	rs2133690407
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)	rs370962049
NM_000360.4(TH):c.1228C>T (p.Arg410Trp)	rs575326605
NM_000360.4(TH):c.583del (p.Ser195fs)	rs1846146030
NM_000360.4(TH):c.628G>A (p.Ala210Thr)	rs1260455415
NM_000360.4(TH):c.711del (p.Thr238fs)	rs2495806867
NM_000360.4(TH):c.789_795dup (p.Glu266fs)	rs2495805517
NM_000360.4(TH):c.81G>T (p.Glu27Asp)	rs139742336
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_000360.4(TH):c.934C>T (p.Gln312Ter)	rs1337159250
NM_000368.5(TSC1):c.1874A>C (p.Glu625Ala)	rs886038287
NM_000368.5(TSC1):c.2208+2T>A	rs1064794132
NM_000368.5(TSC1):c.2369A>G (p.Tyr790Cys)	rs749111647
NM_000368.5(TSC1):c.3129_3130insAGCATCAGC (p.Ser1043_Glu1044insSerIleSer)	rs1588287475
NM_000370.3(TTPA):c.19del (p.Gln7fs)	rs760014795
NM_000370.3(TTPA):c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer)	rs1554524061
NM_000370.3(TTPA):c.303T>G (p.His101Gln)	rs121917849
NM_000370.3(TTPA):c.487del (p.Trp163fs)	rs397515378
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu)	rs773970123
NM_000372.5(TYR):c.1184G>A (p.Ser395Asn)	rs752344007
NM_000372.5(TYR):c.1199G>A (p.Trp400Ter)	rs62645916
NM_000372.5(TYR):c.1392dup (p.Lys465Ter)	rs1555100853
NM_000372.5(TYR):c.155G>T (p.Arg52Ile)	rs61753182
NM_000372.5(TYR):c.178_179del (p.Leu60fs)	rs2496528211
NM_000372.5(TYR):c.272G>A (p.Cys91Tyr)	rs137854890
NM_000372.5(TYR):c.286dup (p.Met96fs)	rs61753190
NM_000372.5(TYR):c.307T>C (p.Cys103Arg)	rs1482829698
NM_000372.5(TYR):c.530T>A (p.Val177Asp)	rs571810545
NM_000372.5(TYR):c.996G>A (p.Met332Ile)	rs2135253415
NM_000380.4(XPA):c.10del (p.Ala4fs)	rs779161471
NM_000380.4(XPA):c.323G>T (p.Cys108Phe)	rs104894131
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.648_649del (p.Lys217fs)	rs1057519018
NM_000380.4(XPA):c.772_785del (p.Arg258fs)	rs778543124
NM_000382.3(ALDH3A2):c.471+1del	rs786204741
NM_000387.6(SLC25A20):c.10C>T (p.Gln4Ter)	rs756998699
NM_000387.6(SLC25A20):c.121C>T (p.Gln41Ter)	rs1575992941
NM_000387.6(SLC25A20):c.125del (p.Pro42fs)	rs2470610426
NM_000387.6(SLC25A20):c.397C>T (p.Arg133Trp)	rs748394731
NM_000387.6(SLC25A20):c.542del (p.Pro181fs)	rs2471005072
NM_000387.6(SLC25A20):c.82G>T (p.Gly28Cys)	rs747335514
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter)	rs202189057
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val)	rs786205465
NM_000396.4(CTSK):c.426del (p.Phe142fs)	rs1057516514
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter)	rs74315303
NM_000396.4(CTSK):c.737_738del (p.Ser246fs)	rs750699844
NM_000396.4(CTSK):c.830C>T (p.Ala277Val)	rs74315304
NM_000396.4(CTSK):c.934C>T (p.Arg312Ter)	rs375958814
NM_000402.4(G6PD):c.1250G>A (p.Arg417His)	rs137852321
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro)	rs72554665
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)	rs78478128
NM_000402.4(G6PD):c.482G>T (p.Gly161Val)	rs137852341
NM_000402.4(G6PD):c.607T>C (p.Phe203Leu)	rs137852343
NM_000402.4(G6PD):c.683G>A (p.Arg228His)	rs137852332
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys)	rs192732174
NM_000414.4(HSD17B4):c.1210-1G>A	rs1554065671
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)	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.350A>T (p.Asp117Val)	rs1447689394
NM_000414.4(HSD17B4):c.868+1del	rs749532705
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer)	rs758055753
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp)	rs766503255
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.2749+1G>A	rs759555791
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.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_000430.4(PAFAH1B1):c.484G>A (p.Gly162Ser)	rs121434487
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)	rs146281367
NM_000441.2(SLC26A4):c.1149+1G>A	rs2535317969
NM_000441.2(SLC26A4):c.1164dup (p.Gly389fs)	rs1554358720
NM_000441.2(SLC26A4):c.1234G>T (p.Val412Phe)	rs111033527
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg)	rs201660407
NM_000441.2(SLC26A4):c.1264-12T>A	rs2129316889
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.1437+2T>G	rs397516418
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer)	rs786204601
NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala)	rs727505088
NM_000441.2(SLC26A4):c.1574C>T (p.Pro525Leu)	rs765197819
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro)	rs1554360358
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val)	rs2129318281
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln)	rs111033318
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn)	rs397516427
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val)	rs111033310
NM_000441.2(SLC26A4):c.226C>T (p.Pro76Ser)	rs1554352676
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu)	rs370588279
NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile)	rs1057516953
NM_000441.2(SLC26A4):c.284G>A (p.Gly95Glu)	rs2129309208
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg)	rs1219724284
NM_000441.2(SLC26A4):c.334C>T (p.Pro112Ser)	rs1409565648
NM_000441.2(SLC26A4):c.367C>T (p.Pro123Ser)	rs984967571
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.589G>A (p.Gly197Arg)	rs111033380
NM_000443.4(ABCB4):c.2692G>A (p.Glu898Lys)	rs1808782267
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His)	rs752916287
NM_000444.6(PHEX):c.1966-1G>T	rs1064795147
NM_000444.6(PHEX):c.733-1G>C	rs886041223
NM_000454.5(SOD1):c.230A>T (p.Asp77Val)	rs1568810316
NM_000465.4(BARD1):c.1061C>G (p.Ser354Ter)	rs786202559
NM_000465.4(BARD1):c.1069dup (p.Ile357fs)	rs2106108903
NM_000465.4(BARD1):c.1227_1231del (p.Ser410fs)	rs1553622160
NM_000465.4(BARD1):c.1240del (p.Ala413_Met414insTer)	rs1553622145
NM_000465.4(BARD1):c.1314+1G>A	rs753785671
NM_000465.4(BARD1):c.133G>T (p.Glu45Ter)	rs1553628365
NM_000465.4(BARD1):c.1345del (p.Gln449fs)	rs2106081379
NM_000465.4(BARD1):c.1348_1349delinsCAT (p.Asn450fs)	rs1553619713
NM_000465.4(BARD1):c.1349dup (p.Asn450fs)	rs876660390
NM_000465.4(BARD1):c.1407C>A (p.Cys469Ter)	rs1553619349
NM_000465.4(BARD1):c.1568+5G>A	rs2106076108
NM_000465.4(BARD1):c.1569-7T>G	rs1559395026
NM_000465.4(BARD1):c.159-1G>T	rs879254139
NM_000465.4(BARD1):c.1658C>G (p.Ser553Ter)	rs2469377733
NM_000465.4(BARD1):c.1662_1665del (p.Ser555fs)	rs753537518
NM_000465.4(BARD1):c.1677+5G>A	rs587780019
NM_000465.4(BARD1):c.1735dup (p.Ser579fs)	rs2469342952
NM_000465.4(BARD1):c.1838_1841dup (p.Gln615fs)	rs2469338229
NM_000465.4(BARD1):c.1872del (p.Leu625fs)	rs876659572
NM_000465.4(BARD1):c.1935_1954del (p.Cys645_Glu652delinsTer)	rs587780024
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs)	rs587780024
NM_000465.4(BARD1):c.2001+3A>G	rs1553612461
NM_000465.4(BARD1):c.2020G>T (p.Gly674Ter)	rs1328046615
NM_000465.4(BARD1):c.2024del (p.Cys675fs)	rs2105987971
NM_000465.4(BARD1):c.2063dup (p.Asp689fs)	rs1064796026
NM_000465.4(BARD1):c.212G>A (p.Cys71Tyr)	rs1064793959
NM_000465.4(BARD1):c.215+9T>G	rs1559441723
NM_000465.4(BARD1):c.2229dup (p.Asn744Ter)	rs1259296823
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs)	rs750413473
NM_000465.4(BARD1):c.26_40del (p.4_8NRQPR[1])	rs587781979
NM_000465.4(BARD1):c.272G>A (p.Trp91Ter)	rs1559437094
NM_000465.4(BARD1):c.362C>G (p.Ser121Ter)	rs2469560081
NM_000465.4(BARD1):c.46_68dup (p.Ala25fs)	rs1553628445
NM_000465.4(BARD1):c.513dup (p.Asp172fs)	rs746325928
NM_000465.4(BARD1):c.54C>A (p.Asn18Lys)	rs587780032
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter)	rs752514155
NM_000465.4(BARD1):c.580_581del (p.Arg194fs)	rs2469511702
NM_000465.4(BARD1):c.632T>G (p.Leu211Ter)	rs762171436
NM_000465.4(BARD1):c.653G>A (p.Trp218Ter)	rs1553622534
NM_000465.4(BARD1):c.676G>C (p.Asp226His)	rs876659965
NM_000465.4(BARD1):c.716del (p.Leu239fs)	rs2106110871
NM_000465.4(BARD1):c.71C>G (p.Pro24Arg)	rs863224674
NM_000465.4(BARD1):c.838_839del (p.Leu280fs)	rs876659752
NM_000465.4(BARD1):c.862_863insGG (p.Ser288fs)	rs1478133549
NM_000465.4(BARD1):c.873dup (p.Lys292Ter)	rs1553622378
NM_000466.3(PEX1):c.1501_1502del (p.Leu501fs)	rs786204743
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro)	rs370483961
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter)	rs1057517485
NM_000466.3(PEX1):c.273+1G>A	rs1554376597
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)	rs61750428
NM_000466.3(PEX1):c.3530dup (p.Leu1177fs)	rs2484613131
NM_000466.3(PEX1):c.358-1G>T	rs1057517479
NM_000466.3(PEX1):c.358-2A>C	rs1057517500
NM_000466.3(PEX1):c.56_80del (p.Val19fs)	rs1793398751
NM_000478.6(ALPL):c.1328C>T (p.Ala443Val)	rs768053120
NM_000478.6(ALPL):c.500C>T (p.Thr167Met)	rs1408325840
NM_000478.6(ALPL):c.522del (p.Ser175fs)	rs750174638
NM_000481.4(AMT):c.1056del (p.Ser353fs)	rs2049022161
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg)	rs1167886830
NM_000481.4(AMT):c.515T>C (p.Leu172Pro)	rs1366977126
NM_000481.4(AMT):c.982dup (p.Ala328fs)	rs1553638266
NM_000487.6(ARSA):c.877C>T (p.Arg293Ter)	rs1555900678
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000492.4(CFTR):c.1040G>T (p.Arg347Leu)	rs77932196
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	rs193922500
NM_000492.4(CFTR):c.350G>A (p.Arg117His)	rs78655421
NM_000492.4(CFTR):c.3717+40A>G	rs397508595
NM_000492.4(CFTR):c.3717+5G>A	rs193922520
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del)	rs121908768
NM_000497.4(CYP11B1):c.1121G>A (p.Arg374Gln)	rs104894062
NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln)	rs764598023
NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs)	rs758714890
NM_000497.4(CYP11B1):c.1201-1G>A	rs1437397442
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.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_000500.9(CYP21A2):c.293-13C>G	rs6467
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)	rs566453434
NM_000518.4(HBB):c.364G>A (p.Glu122Lys)	rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	rs33946267
NM_000521.4(HEXB):c.1294dup (p.Glu432fs)	rs775920504
NM_000521.4(HEXB):c.1435_1436del (p.Gln479fs)	rs2478771904
NM_000521.4(HEXB):c.558+1G>C	rs1198764997
NM_000528.4(MAN2B1):c.1048dup (p.His350fs)	rs2145262260
NM_000528.4(MAN2B1):c.105_106del (p.Cys36fs)	rs2024251717
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter)	rs786204715
NM_000528.4(MAN2B1):c.1132_1133del (p.Phe378fs)	rs2512503786
NM_000528.4(MAN2B1):c.1197dup (p.Arg400fs)	rs753695099
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.1404dup (p.Trp469fs)	rs1599350640
NM_000528.4(MAN2B1):c.1516_1519del (p.Thr506fs)	rs1599349822
NM_000528.4(MAN2B1):c.164G>T (p.Cys55Phe)	rs864621975
NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter)	rs1599344532
NM_000528.4(MAN2B1):c.1929-2A>G	rs2023856348
NM_000528.4(MAN2B1):c.1963del (p.Gln655fs)	rs754014741
NM_000528.4(MAN2B1):c.2175G>A (p.Trp725Ter)	rs1392422167
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)	rs80338680
NM_000528.4(MAN2B1):c.2279_2280del (p.Arg760fs)	rs2512488438
NM_000528.4(MAN2B1):c.231G>A (p.Trp77Ter)	rs1555710070
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg)	rs398123456
NM_000528.4(MAN2B1):c.2414_2417del (p.Arg805fs)	rs1347035611
NM_000528.4(MAN2B1):c.247C>T (p.Gln83Ter)	rs2024217737
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.426del (p.Val143fs)	rs2024205685
NM_000528.4(MAN2B1):c.437-1dup	rs1160557969
NM_000528.4(MAN2B1):c.53_54insT (p.Ala19fs)	rs1057516810
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg)	rs864621977
NM_000528.4(MAN2B1):c.664_667del (p.Asp222fs)	rs2512512484
NM_000528.4(MAN2B1):c.66G>A (p.Trp22Ter)	rs2145294443
NM_000528.4(MAN2B1):c.764-1G>C	rs1555709533
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu)	rs746808159
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del)	rs72558452
NM_000531.6(OTC):c.903A>T (p.Leu301Phe)	rs72558462
NM_000532.5(PCCB):c.1091-8_1091-3del	rs1249235758
NM_000532.5(PCCB):c.1199-1G>A	rs2529971938
NM_000532.5(PCCB):c.1222ATC[1] (p.Ile409del)	rs2529972056
NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter)	rs1553784921
NM_000532.5(PCCB):c.1478del (p.Pro493fs)	rs749509618
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter)	rs1292452485
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter)	rs749908889
NM_000532.5(PCCB):c.155_183+17del	rs1941483558
NM_000532.5(PCCB):c.1582C>T (p.Gln528Ter)	rs1935482553
NM_000532.5(PCCB):c.183+5G>A	rs879253813
NM_000532.5(PCCB):c.184-2A>G	rs1553774015
NM_000532.5(PCCB):c.187_203del	rs2108137253
NM_000532.5(PCCB):c.433_434insGCTGTTA (p.Met145fs)	rs2108146615
NM_000532.5(PCCB):c.446dup (p.Thr150fs)	rs2529763694
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.494G>C (p.Arg165Pro)	rs1304714042
NM_000532.5(PCCB):c.499C>T (p.Gln167Ter)	rs2529763878
NM_000532.5(PCCB):c.517_518del (p.Leu173fs)	rs755776820
NM_000532.5(PCCB):c.638del (p.Phe213fs)	rs1196443543
NM_000532.5(PCCB):c.654+462A>G	rs1576327011
NM_000532.5(PCCB):c.655-2A>G	rs1553778865
NM_000532.5(PCCB):c.838dup (p.Leu280fs)	rs769968548
NM_000532.5(PCCB):c.847C>T (p.Gln283Ter)	rs1934015542
NM_000533.5(PLP1):c.354_355del (p.Gly120fs)	rs1556267123
NM_000535.7(PMS2):c.1111_1112del (p.Asn371fs)	rs1583334346
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del)	rs863224676
NM_000535.7(PMS2):c.1254del (p.Arg419fs)	rs2535825476
NM_000535.7(PMS2):c.1281del (p.His428fs)	rs1783147885
NM_000535.7(PMS2):c.1552G>T (p.Glu518Ter)	rs376142390
NM_000535.7(PMS2):c.1579_1580del (p.Arg527fs)	rs1064793234
NM_000535.7(PMS2):c.1588C>T (p.Gln530Ter)	rs751261543
NM_000535.7(PMS2):c.162_163insAATT (p.Asp55delinsAsnTer)	rs1554306288
NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs)	rs863224498
NM_000535.7(PMS2):c.164-1G>C	rs763308607
NM_000535.7(PMS2):c.1675G>T (p.Gly559Ter)	rs751153838
NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter)	rs63750456
NM_000535.7(PMS2):c.1810C>T (p.Gln604Ter)	rs1064793426
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)	rs63750250
NM_000535.7(PMS2):c.1859_1860insAT (p.Phe620fs)	rs756358866
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter)	rs1554297125
NM_000535.7(PMS2):c.1938del (p.Lys647fs)	rs2128720948
NM_000535.7(PMS2):c.2007-2A>G	rs587782336
NM_000535.7(PMS2):c.2095G>C (p.Asp699His)	rs587781317
NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter)	rs876659900
NM_000535.7(PMS2):c.221G>A (p.Gly74Glu)	rs876661272
NM_000535.7(PMS2):c.2247T>A (p.Asn749Lys)	rs200824831
NM_000535.7(PMS2):c.2275+1G>C	rs1554294393
NM_000535.7(PMS2):c.2397_2400dup (p.Ser801fs)	rs2128672594
NM_000535.7(PMS2):c.24-12_107delinsAAAT	rs1554306445
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)	rs730881919
NM_000535.7(PMS2):c.2506del (p.Glu836fs)	rs2128658092
NM_000535.7(PMS2):c.354-2A>G	rs786202098
NM_000535.7(PMS2):c.485T>A (p.Leu162Ter)	rs1785199575
NM_000535.7(PMS2):c.503dup (p.Arg169fs)	rs2536435681
NM_000535.7(PMS2):c.520C>T (p.Gln174Ter)	rs1221485925
NM_000535.7(PMS2):c.573C>A (p.Tyr191Ter)	rs761134229
NM_000535.7(PMS2):c.641_644dup (p.Cys216fs)	rs1784802468
NM_000535.7(PMS2):c.746_753del (p.Asp249fs)	rs587782710
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer)	rs1064794905
NM_000535.7(PMS2):c.79del (p.Cys27fs)	rs2536588880
NM_000535.7(PMS2):c.803+1G>A	rs1562669585
NM_000535.7(PMS2):c.804-2A>G	rs1307026290
NM_000535.7(PMS2):c.841G>T (p.Gly281Ter)	rs1784309424
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn)	rs267608153
NM_000535.7(PMS2):c.904-2A>G	rs587781339
NM_000535.7(PMS2):c.917T>A (p.Val306Glu)	rs786201878
NM_000535.7(PMS2):c.939T>A (p.Tyr313Ter)	rs1562651617
NM_000536.4(RAG2):c.1332C>G (p.Ile444Met)	rs1564995662
NM_000536.4(RAG2):c.230C>A (p.Thr77Asn)	rs121918574
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)	rs794728696
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)	rs118192181
NM_000543.5(SMPD1):c.1092-1G>C	rs398123474
NM_000543.5(SMPD1):c.1101dup (p.Phe368fs)	rs1422720020
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.1340+2T>C	rs1301641750
NM_000543.5(SMPD1):c.1394T>C (p.Phe465Ser)	rs1319643225
NM_000543.5(SMPD1):c.1406A>C (p.Tyr469Ser)	rs267607074
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His)	rs120074117
NM_000543.5(SMPD1):c.151_154del (p.Asp51fs)	rs1057516949
NM_000543.5(SMPD1):c.1598C>A (p.Pro533Gln)	rs199915216
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)	rs398123478
NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser)	rs120074119
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.28C>T (p.Gln10Ter)	rs1205990349
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.505dup (p.His169fs)	rs781535659
NM_000543.5(SMPD1):c.518dup (p.Ser174fs)	rs786204733
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs)	rs786204694
NM_000543.5(SMPD1):c.581dup (p.Ala195fs)	rs748165078
NM_000543.5(SMPD1):c.597del (p.Val200fs)	rs2493805239
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.872G>A (p.Arg291His)	rs1803161
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_000543.5(SMPD1):c.995C>G (p.Pro332Arg)	rs202081954
NM_000546.6(TP53):c.646G>A (p.Val216Met)	rs730882025
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)	rs730882008
NM_000548.5(TSC2):c.1257+2T>C	rs45509697
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)	rs45517179
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter)	rs45517099
NM_000551.4(VHL):c.460C>T (p.Pro154Ser)	rs1553619993
NM_000551.4(VHL):c.574C>T (p.Pro192Ser)	rs28940300
NM_000553.6(WRN):c.1012_1018del (p.Val338fs)	rs2130118911
NM_000553.6(WRN):c.1114_1115delinsC (p.Asp372fs)	rs1563338855
NM_000553.6(WRN):c.1173T>A (p.Cys391Ter)	rs2535911235
NM_000553.6(WRN):c.1181C>T (p.Ser394Leu)	rs200487813
NM_000553.6(WRN):c.1350+1G>T	rs752202315
NM_000553.6(WRN):c.15del (p.Lys5fs)	rs878854133
NM_000553.6(WRN):c.1665del (p.Lys555_Val556insTer)	rs1585440064
NM_000553.6(WRN):c.1744C>T (p.Gln582Ter)	rs757808169
NM_000553.6(WRN):c.1754del (p.Pro585fs)	rs1585440764
NM_000553.6(WRN):c.1873G>T (p.Glu625Ter)	rs1813759748
NM_000553.6(WRN):c.1908C>A (p.Tyr636Ter)	rs1585449207
NM_000553.6(WRN):c.1993dup (p.Ile665fs)	rs1814195192
NM_000553.6(WRN):c.2089-3024A>G	rs281865157
NM_000553.6(WRN):c.229dup (p.Asp77fs)	rs747587698
NM_000553.6(WRN):c.2345del (p.Gly782fs)	rs1585478303
NM_000553.6(WRN):c.2448+1G>A	rs2130306367
NM_000553.6(WRN):c.2503del (p.Gln835fs)	rs748484883
NM_000553.6(WRN):c.2548C>T (p.Gln850Ter)	rs2130322576
NM_000553.6(WRN):c.2630+1G>A	rs1279240593
NM_000553.6(WRN):c.2952_2953del (p.Leu984fs)	rs1802222407
NM_000553.6(WRN):c.2994T>A (p.Tyr998Ter)	rs1563376347
NM_000553.6(WRN):c.3233+1G>C	rs1563376793
NM_000553.6(WRN):c.3244del (p.Val1082fs)	rs745905108
NM_000553.6(WRN):c.3382del (p.Ser1128fs)	rs778872619
NM_000553.6(WRN):c.3382dup (p.Ser1128fs)	rs778872619
NM_000553.6(WRN):c.3408dup (p.Ala1137fs)	rs1284409960
NM_000553.6(WRN):c.3590del (p.Asn1197fs)	rs281865160
NM_000553.6(WRN):c.3711del (p.Lys1237fs)	rs1563385391
NM_000553.6(WRN):c.3726del (p.Lys1243fs)	rs2130469991
NM_000553.6(WRN):c.3819+1G>C	rs748618811
NM_000553.6(WRN):c.3972del (p.Val1325fs)	rs1377977559
NM_000553.6(WRN):c.4111A>T (p.Lys1371Ter)	rs774007667
NM_000553.6(WRN):c.464T>A (p.Leu155Ter)	rs1585409238
NM_000553.6(WRN):c.561A>G (p.Lys187=)	rs775802030
NM_000553.6(WRN):c.724G>C (p.Glu242Gln)	rs769959338
NM_000553.6(WRN):c.859del (p.Asp287fs)	rs1585427471
NM_000553.6(WRN):c.944T>G (p.Leu315Ter)	rs1813280584
NM_000587.4(C7):c.1561C>A (p.Arg521Ser)	rs121964920
NM_000642.3(AGL):c.1041dup (p.Val348fs)	rs2101126325
NM_000642.3(AGL):c.104T>G (p.Leu35Ter)	rs1057516567
NM_000642.3(AGL):c.1107del (p.Glu369fs)	rs2524599094
NM_000642.3(AGL):c.1148C>G (p.Ser383Ter)	rs1651412496
NM_000642.3(AGL):c.1159C>T (p.Arg387Ter)	rs1553185418
NM_000642.3(AGL):c.1243A>T (p.Lys415Ter)	rs2101128697
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer)	rs786204678
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter)	rs140095668
NM_000642.3(AGL):c.1612-1G>A	rs1327892944
NM_000642.3(AGL):c.1637T>A (p.Leu546Ter)	rs2524635932
NM_000642.3(AGL):c.1688delinsGA (p.Leu563fs)	rs1651876879
NM_000642.3(AGL):c.1788T>G (p.Tyr596Ter)	rs777871903
NM_000642.3(AGL):c.18_19del (p.Gln6fs)	rs113994127
NM_000642.3(AGL):c.1942dup (p.Ser648fs)	rs2100758555
NM_000642.3(AGL):c.2036del (p.Lys679fs)	rs2100759432
NM_000642.3(AGL):c.214_215del (p.Glu72fs)	rs754978531
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter)	rs1652018859
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.2349_2352del (p.Arg784fs)	rs774652075
NM_000642.3(AGL):c.2351_2352del (p.Arg784fs)	rs774652075
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs)	rs1553187237
NM_000642.3(AGL):c.251dup (p.Asn84fs)	rs756175624
NM_000642.3(AGL):c.2538dup (p.Ile847fs)	rs1057516984
NM_000642.3(AGL):c.2670del (p.Pro891fs)	rs764591009
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter)	rs767529587
NM_000642.3(AGL):c.2905dup (p.Tyr969fs)	rs1652879873
NM_000642.3(AGL):c.293+1G>T	rs946922101
NM_000642.3(AGL):c.293+1del	rs777857395
NM_000642.3(AGL):c.294-2A>T	rs1057516868
NM_000642.3(AGL):c.3011del (p.Pro1004fs)	rs1057516306
NM_000642.3(AGL):c.3088del (p.Val1030fs)	rs2524730915
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs)	rs771069887
NM_000642.3(AGL):c.3229_3230del (p.Lys1077fs)	rs1557773719
NM_000642.3(AGL):c.3362+1G>A	rs1553189468
NM_000642.3(AGL):c.3362+2T>C	rs2100804114
NM_000642.3(AGL):c.3589-3C>G	rs1653935585
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter)	rs775498547
NM_000642.3(AGL):c.3630del (p.Lys1210fs)	rs1653938652
NM_000642.3(AGL):c.3662del (p.Asn1221fs)	rs2523735493
NM_000642.3(AGL):c.36_37insCG (p.Asn13fs)	rs762545015
NM_000642.3(AGL):c.378T>A (p.Cys126Ter)	rs1553183359
NM_000642.3(AGL):c.3911dup (p.Asn1304fs)	rs745757264
NM_000642.3(AGL):c.4100del (p.Gly1367fs)	rs777120567
NM_000642.3(AGL):c.4115G>A (p.Trp1372Ter)	rs1183383313
NM_000642.3(AGL):c.4193G>A (p.Trp1398Ter)	rs1344484845
NM_000642.3(AGL):c.4221dup (p.Leu1408fs)	rs786204655
NM_000642.3(AGL):c.4256dup (p.Asp1420fs)	rs1557792839
NM_000642.3(AGL):c.4259+5G>A	rs780504025
NM_000642.3(AGL):c.4348G>T (p.Glu1450Ter)	rs1553193486
NM_000642.3(AGL):c.535_538del (p.Leu179fs)	rs794727706
NM_000642.3(AGL):c.655A>G (p.Asn219Asp)	rs1332399736
NM_000642.3(AGL):c.672dup (p.Ser225Ter)	rs1057516471
NM_000642.3(AGL):c.808G>T (p.Gly270Ter)	rs1650900557
NM_000642.3(AGL):c.854del (p.Arg285fs)	rs1553184620
NM_000642.3(AGL):c.861_864del (p.Ile288fs)	rs1571243699
NM_000642.3(AGL):c.947_948del (p.Leu316fs)	rs1650934988
NM_000642.3(AGL):c.967C>T (p.Arg323Ter)	rs757987101
NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs)	rs1330793674
NM_000709.4(BCKDHA):c.1168-2A>G	rs1555767285
NM_000709.4(BCKDHA):c.116_117dup (p.Arg40fs)	rs398123489
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro)	rs755691417
NM_000709.4(BCKDHA):c.1306G>T (p.Glu436Ter)	rs1298823471
NM_000709.4(BCKDHA):c.164del (p.Pro55fs)	rs2039242108
NM_000709.4(BCKDHA):c.308T>C (p.Leu103Pro)	rs2513452355
NM_000709.4(BCKDHA):c.410_426dup (p.Gly143fs)	rs755433978
NM_000709.4(BCKDHA):c.476G>A (p.Arg159Gln)	rs773048903
NM_000709.4(BCKDHA):c.485G>A (p.Gly162Asp)	rs1251140817
NM_000709.4(BCKDHA):c.507C>G (p.Tyr169Ter)	rs754613642
NM_000709.4(BCKDHA):c.511del (p.Leu171fs)	rs762084007
NM_000709.4(BCKDHA):c.661_664del (p.Tyr221fs)	rs796051938
NM_000709.4(BCKDHA):c.663del (p.Ala220_Tyr221insTer)	rs2122142757
NM_000709.4(BCKDHA):c.712G>T (p.Glu238Ter)	rs1303770209
NM_000709.4(BCKDHA):c.794G>A (p.Arg265Gln)	rs761996996
NM_000709.4(BCKDHA):c.800A>G (p.Asn267Ser)	rs1568508047
NM_000709.4(BCKDHA):c.859C>G (p.Arg287Gly)	rs764247545
NM_000709.4(BCKDHA):c.995+1G>A	rs2039383036
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs)	rs1575206357
NM_000784.4(CYP27A1):c.1017+1del	rs1559392904
NM_000784.4(CYP27A1):c.1064del (p.Pro355fs)	rs1575206688
NM_000784.4(CYP27A1):c.1126del (p.Gln376fs)	rs1449962580
NM_000784.4(CYP27A1):c.1170del (p.Lys391fs)	rs2470229179
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.1193del (p.Pro398fs)	rs1943763473
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.1239dup (p.Asp414Ter)	rs2105981099
NM_000784.4(CYP27A1):c.1374del (p.Arg459fs)	rs751969035
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)	rs72551322
NM_000784.4(CYP27A1):c.1468del (p.Leu490fs)	rs2470230328
NM_000784.4(CYP27A1):c.1476+2T>C	rs1165952837
NM_000784.4(CYP27A1):c.1477-2A>C	rs111570247
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.24dup (p.Leu9fs)	rs1163340926
NM_000784.4(CYP27A1):c.38del (p.Leu13fs)	rs1943397479
NM_000784.4(CYP27A1):c.433G>A (p.Gly145Arg)	rs587778795
NM_000784.4(CYP27A1):c.461G>A (p.Trp154Ter)	rs2470226358
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)	rs765512351
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs)	rs758739930
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs)	rs755532803
NM_000784.4(CYP27A1):c.67dup (p.His23fs)	rs1559384522
NM_000784.4(CYP27A1):c.753_754del (p.Tyr253fs)	rs1559392634
NM_000784.4(CYP27A1):c.825G>A (p.Trp275Ter)	rs1425208118
NM_000784.4(CYP27A1):c.845-1G>C	rs397515353
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)	rs397515356
NM_000834.5(GRIN2B):c.1306T>C (p.Cys436Arg)	rs1565478152
NM_000834.5(GRIN2B):c.1721TCTTTG[1] (p.574VF[1])	rs1555111511
NM_000834.5(GRIN2B):c.2471T>G (p.Met824Arg)	rs1565455878
NM_000875.5(IGF1R):c.119G>A (p.Arg40His)	rs1409058783
NM_000925.4(PDHB):c.122_123del (p.Gln41fs)	rs778727916
NM_000925.4(PDHB):c.211C>T (p.Arg71Ter)	rs373124742
NM_000925.4(PDHB):c.238_239del (p.Lys80fs)	rs1390415306
NM_000925.4(PDHB):c.716_717del (p.Val239fs)	rs772084220
NM_000937.5(POLR2A):c.83C>G (p.Pro28Arg)	rs1388837601
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys)	rs397518483
NM_000965.5(RARB):c.638T>C (p.Leu213Pro)	rs869025222
NM_000969.5(RPL5):c.715A>G (p.Met239Val)	rs1336022942
NM_000977.4(RPL13):c.548G>A (p.Arg183His)	rs1597676540
NM_001002755.4(NFU1):c.545G>A (p.Arg182Gln)	rs1281276965
NM_001005242.3(PKP2):c.1379-2047_1379-2043del	rs775995156
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln)	rs1567861501
NM_001005273.3(CHD3):c.5275C>T (p.Arg1759Trp)	rs1394994913
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His)	rs587783595
NM_001006941.2(ALG3):c.46G>T (p.Gly16Trp)	rs373046727
NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn)	rs56041034
NM_001018115.3(FANCD2):c.3294del (p.Lys1099fs)	rs2470034575
NM_001018115.3(FANCD2):c.3713T>A (p.Met1238Lys)	rs761089162
NM_001023570.4(IQCB1):c.1522_1523dup (p.Ala509fs)	rs587783011
NM_001029896.2(WDR45):c.183C>A (p.Asn61Lys)	rs2065045729
NM_001029896.2(WDR45):c.235+5G>A	rs2065045234
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys)	rs796053367
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter)	rs1557041672
NM_001033855.3(DCLRE1C):c.461del (p.Gly154fs)	rs1404214090
NM_001034850.3(RETREG1):c.926C>G (p.Ser309Ter)	rs137852739
NM_001037.5(SCN1B):c.449-2A>G	rs1600370558
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys)	rs796053126
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)	rs1553567409
NM_001040142.2(SCN2A):c.751G>A (p.Val251Ile)	rs1057519528
NM_001040716.2(PC):c.1351C>T (p.Arg451Cys)	rs113994143
NM_001040716.2(PC):c.1357C>T (p.Arg453Ter)	rs768514713
NM_001040716.2(PC):c.1639C>T (p.Arg547Ter)	rs1415973565
NM_001040716.2(PC):c.1712_1728del (p.Arg571fs)	rs2495487509
NM_001040716.2(PC):c.1980del (p.Phe660fs)	rs2495468895
NM_001040716.2(PC):c.2606G>A (p.Gly869Asp)	rs1555015018
NM_001040716.2(PC):c.3089del (p.Leu1030fs)	rs2495401265
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.1056+3A>C	rs386833698
NM_001042432.2(CLN3):c.1195G>T (p.Glu399Ter)	rs386833701
NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter)	rs386833713
NM_001042432.2(CLN3):c.370dup (p.Tyr124fs)	rs386833715
NM_001042432.2(CLN3):c.424del (p.Val142fs)	rs386833720
NM_001042432.2(CLN3):c.485C>G (p.Ser162Ter)	rs386833725
NM_001042432.2(CLN3):c.534-2A>G	rs2046221354
NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter)	rs267606737
NM_001042432.2(CLN3):c.631C>T (p.Gln211Ter)	rs386833737
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter)	rs121434286
NM_001042432.2(CLN3):c.944dup (p.His315fs)	rs386833740
NM_001042432.2(CLN3):c.954_962+18del	rs386833741
NM_001042492.3(NF1):c.1392+5_1392+6delinsTT	rs587782851
NM_001042492.3(NF1):c.1405A>G (p.Lys469Glu)	rs1555612271
NM_001042492.3(NF1):c.2252-2A>G	rs1131691105
NM_001042492.3(NF1):c.2329T>G (p.Trp777Gly)	rs876658853
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)	rs267606606
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter)	rs376576925
NM_001042492.3(NF1):c.5711A>G (p.Asn1904Ser)	rs864622647
NM_001042492.3(NF1):c.7090C>T (p.Arg2364Trp)	rs1567620403
NM_001042492.3(NF1):c.7963C>A (p.Pro2655Thr)	rs587781791
NM_001042681.2(RERE):c.1681_1684del (p.Glu561fs)	rs1641706044
NM_001042681.2(RERE):c.4307_4318del (p.Leu1436_His1439del)	rs1064793252
NM_001044385.3(TMEM237):c.869+1G>A	rs730882231
NM_001048174.2(MUTYH):c.1016_1017del (p.Pro339fs)	rs768130289
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)	rs587778536
NM_001048174.2(MUTYH):c.1130_1140del (p.Pro377fs)	rs863224501
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)	rs587780078
NM_001048174.2(MUTYH):c.1183G>T (p.Glu395Ter)	rs1060501321
NM_001048174.2(MUTYH):c.1196_1205del (p.Trp399fs)	rs1553125677
NM_001048174.2(MUTYH):c.1197G>A (p.Trp399Ter)	rs1060501325
NM_001048174.2(MUTYH):c.1237del (p.Glu413fs)	rs1064795480
NM_001048174.2(MUTYH):c.1258C>G (p.His420Asp)	rs786202133
NM_001048174.2(MUTYH):c.1312del (p.Pro437_Val438insTer)	rs2523915561
NM_001048174.2(MUTYH):c.1318_1319del (p.Thr440fs)	rs1553125075
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter)	rs587780088
NM_001048174.2(MUTYH):c.1434+4A>G	rs876658323
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)	rs121908380
NM_001048174.2(MUTYH):c.249dup (p.Pro84fs)	rs878854189
NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter)	rs1300812494
NM_001048174.2(MUTYH):c.309_322dup (p.Met108fs)	rs1553129652
NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp)	rs876660190
NM_001048174.2(MUTYH):c.379A>T (p.Lys127Ter)	rs876660787
NM_001048174.2(MUTYH):c.420+19_420+31del	rs781222233
NM_001048174.2(MUTYH):c.424del (p.Glu141_Val142insTer)	rs1553129062
NM_001048174.2(MUTYH):c.442_451del (p.Gly148fs)	rs1057517457
NM_001048174.2(MUTYH):c.460C>G (p.Arg154Gly)	rs747993448
NM_001048174.2(MUTYH):c.752A>G (p.Asn251Ser)	rs587778534
NM_001048174.2(MUTYH):c.763A>G (p.Met255Val)	rs876659676
NM_001048174.2(MUTYH):c.775del (p.Ala259fs)	rs761468459
NM_001048174.2(MUTYH):c.834C>G (p.Cys278Trp)	rs730881834
NM_001048174.2(MUTYH):c.90_93del (p.Ser30fs)	rs1645561773
NM_001048174.2(MUTYH):c.91C>T (p.Gln31Ter)	rs2524353808
NM_001048174.2(MUTYH):c.963G>A (p.Trp321Ter)	rs1060501324
NM_001048174.2(MUTYH):c.994del (p.Arg332fs)	rs1057517456
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg)	rs1064795334
NM_001069.3(TUBB2A):c.5G>A (p.Arg2His)	rs1581499166
NM_001080517.3(SETD5):c.1459G>T (p.Glu487Ter)	rs369459846
NM_001080517.3(SETD5):c.2168T>A (p.Leu723Ter)	rs751310320
NM_001083962.2(TCF4):c.1486+1G>T	rs2048816852
NM_001098.3(ACO2):c.1819C>T (p.Arg607Cys)	rs864309499
NM_001100.4(ACTA1):c.1001C>G (p.Pro334Arg)	rs1553255312
NM_001100.4(ACTA1):c.478G>A (p.Gly160Ser)	rs1064794652
NM_001100.4(ACTA1):c.539T>C (p.Leu180Pro)	rs1558081797
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)	rs1555408401
NM_001101.5(ACTB):c.1066T>C (p.Trp356Arg)	rs2128241170
NM_001101.5(ACTB):c.454G>A (p.Val152Met)	rs2128241296
NM_001101.5(ACTB):c.625G>A (p.Val209Met)	rs587779777
NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter)	rs1202301143
NM_001106.4(ACVR2B):c.1147C>T (p.Arg383Cys)	rs1559655653
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)	rs267608327
NM_001110792.2(MECP2):c.414-3C>G	rs267608465
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)	rs28934906
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	rs61749721
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)	rs61751362
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)	rs61751444
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)	rs398122822
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter)	rs769148365
NM_001111067.4(ACVR1):c.983G>A (p.Gly328Glu)	rs387906589
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=)	rs1602260263
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer)	rs758062617
NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter)	rs1359408831
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs)	rs770318990
NM_001113378.2(FANCI):c.446del	rs2505910996
NM_001114753.3(ENG):c.1273-2A>G	rs373842615
NM_001122769.3(LCA5):c.1466del (p.Leu489fs)	rs1240302846
NM_001122769.3(LCA5):c.1819_1820del (p.Gln607fs)	rs1180426748
NM_001122769.3(LCA5):c.190+1G>A	rs746351112
NM_001122769.3(LCA5):c.744_750del (p.Ser249fs)	rs1769904494
NM_001122769.3(LCA5):c.858+1G>C	rs753594556
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs)	rs386833794
NM_001127178.3(PIGG):c.1428T>C (p.Phe476=)	rs766083746
NM_001127178.3(PIGG):c.342dup (p.Thr115fs)	rs886041687
NM_001127178.3(PIGG):c.846C>A (p.Thr282=)	rs144638389
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)	rs1057520918
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)	rs794727411
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)	rs121908247
NM_001127453.2(GSDME):c.212-1G>A	rs1790597003
NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg)	rs28940308
NM_001127671.2(LIFR):c.503C>G (p.Ser168Ter)	rs779829941
NM_001128425.2(MUTYH):c.200del (p.Gly67fs)	rs746449748
NM_001128425.2(MUTYH):c.35G>A (p.Trp12Ter)	rs1064795596
NM_001128425.2(MUTYH):c.36G>A (p.Trp12Ter)	rs767402084
NM_001130987.2(DYSF):c.3381_3382del (p.Phe1128fs)	rs398123780
NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn)	rs1554310600
NM_001134363.3(RBM20):c.2714T>A (p.Met905Lys)	rs1564664312
NM_001134407.3(GRIN2A):c.1841A>G (p.Asn614Ser)	rs869312916
NM_001134407.3(GRIN2A):c.288C>G (p.His96Gln)	rs74853460
NM_001134407.3(GRIN2A):c.3064C>A (p.Arg1022Ser)	rs560057284
NM_001134407.3(GRIN2A):c.67_81del (p.Pro23_Ala27del)	rs775540481
NM_001139.3(ALOX12B):c.403GAG[1] (p.Glu136del)	rs749617913
NM_001139.3(ALOX12B):c.830T>A (p.Ile277Asn)	rs1977170764
NM_001139.3(ALOX12B):c.83G>A (p.Gly28Glu)	rs1567985822
NM_001142800.2(EYS):c.1056+3A>C	rs747923761
NM_001142800.2(EYS):c.1211dup (p.Asn404fs)	rs764163418
NM_001142800.2(EYS):c.1299+5_1299+8del	rs1562140604
NM_001142800.2(EYS):c.1328dup (p.Asn443fs)	rs1582176424
NM_001142800.2(EYS):c.1479C>A (p.Cys493Ter)	rs774464019
NM_001142800.2(EYS):c.1637_1640del (p.Asp546fs)	rs2150313758
NM_001142800.2(EYS):c.1961dup (p.Asn654fs)	rs749103801
NM_001142800.2(EYS):c.2023+5G>T	rs1287889008
NM_001142800.2(EYS):c.2486del (p.Ile829fs)	rs2150076869
NM_001142800.2(EYS):c.2641+1G>A	rs1768029728
NM_001142800.2(EYS):c.3178_3179del (p.Leu1059_Ile1060insTer)	rs1764904701
NM_001142800.2(EYS):c.3490G>T (p.Glu1164Ter)	rs2149856835
NM_001142800.2(EYS):c.3573G>A (p.Trp1191Ter)	rs1239806410
NM_001142800.2(EYS):c.4011_4012del (p.His1337fs)	rs2149832523
NM_001142800.2(EYS):c.4321C>T (p.Gln1441Ter)	rs1766410692
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs)	rs750840208
NM_001142800.2(EYS):c.4557del (p.Ala1520fs)	rs768092887
NM_001142800.2(EYS):c.525_527del (p.Glu176del)	rs780433094
NM_001142800.2(EYS):c.5487dup (p.Glu1830fs)	rs2533149036
NM_001142800.2(EYS):c.5802dup (p.Ile1935fs)	rs1455826633
NM_001142800.2(EYS):c.6192-1G>A	rs570020451
NM_001142800.2(EYS):c.6812_6813del (p.Thr2271fs)	rs2149802267
NM_001142800.2(EYS):c.7228_7228+1delinsTA	rs1772614934
NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter)	rs527236076
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs)	rs751629543
NM_001142800.2(EYS):c.8150dup (p.Thr2718fs)	rs1251637752
NM_001142800.2(EYS):c.8155_8156del (p.His2719fs)	rs764229134
NM_001142800.2(EYS):c.8168del (p.Gln2723fs)	rs1168101857
NM_001142800.2(EYS):c.8243dup (p.Leu2748fs)	rs1240944758
NM_001142800.2(EYS):c.8309T>C (p.Leu2770Pro)	rs1186771860
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)	rs528919874
NM_001142800.2(EYS):c.8830del (p.Val2944fs)	rs776526721
NM_001142800.2(EYS):c.9177_9180del (p.Ala3058_Tyr3059insTer)	rs1162806402
NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs)	rs886044149
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs)	rs770748359
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs)	rs769824975
NM_001142800.2(EYS):c.9354dup (p.Gln3119fs)	rs771640639
NM_001142800.2(EYS):c.9376_9379del (p.Ile3127fs)	rs1166245419
NM_001142864.4(PIEZO1):c.5289C>G (p.Tyr1763Ter)	rs72811487
NM_001162498.3(LPAR6):c.436G>A (p.Gly146Arg)	rs121434308
NM_001164277.1(SLC37A4):c.529_533del	rs2089891548
NM_001164277.2(SLC37A4):c.1065del (p.Ser356fs)	rs2497011739
NM_001164277.2(SLC37A4):c.1124+3_1124+6del	rs782612223
NM_001164277.2(SLC37A4):c.1149del (p.Phe384fs)	rs1943512272
NM_001164277.2(SLC37A4):c.148+2T>C	rs1449998297
NM_001164277.2(SLC37A4):c.169_175del (p.Ser57fs)	rs782501672
NM_001164277.2(SLC37A4):c.170C>A (p.Ser57Ter)	rs374848317
NM_001164277.2(SLC37A4):c.195dup (p.Val66fs)	rs2497033380
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs)	rs782604758
NM_001164277.2(SLC37A4):c.345dup (p.Leu116fs)	rs782604758
NM_001164277.2(SLC37A4):c.398dup (p.Phe134fs)	rs2134638421
NM_001164277.2(SLC37A4):c.484_485del (p.Ser162fs)	rs1194259722
NM_001164277.2(SLC37A4):c.59dup (p.Tyr21fs)	rs1943676862
NM_001164277.2(SLC37A4):c.637del (p.Glu213fs)	rs1352968108
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del)	rs121908977
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs)	rs1447366650
NM_001164277.2(SLC37A4):c.882dup (p.Asn295fs)	rs2497018036
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup)	rs786204477
NM_001164277.2(SLC37A4):c.935_936del (p.Thr312fs)	rs2497017623
NM_001164277.2(SLC37A4):c.976dup (p.Ser326fs)	rs2134631242
NM_001164277.2(SLC37A4):c.981del (p.Lys328fs)	rs1001301633
NM_001164508.2(NEB):c.20158-6A>G	rs1553715636
NM_001164508.2(NEB):c.3567+1G>A	rs587780399
NM_001164508.2(NEB):c.8889+1G>A	rs1553963960
NM_001165963.4(SCN1A):c.3953T>C (p.Leu1318Pro)	rs1692164539
NM_001170629.2(CHD8):c.4744C>T (p.Arg1582Ter)	rs1555314211
NM_001170629.2(CHD8):c.4984C>T (p.Arg1662Ter)	rs1555313934
NM_001171.6(ABCC6):c.4209-2A>C	rs1555506740
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)	rs201108965
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu)	rs369638371
NM_001190274.2(FBXO11):c.1367A>T (p.Asp456Val)	rs112661514
NM_001190737.2(NFIB):c.115C>T (p.Arg39Cys)	rs1588253471
NM_001195518.2(MICU1):c.460C>T (p.Arg154Ter)	rs1840027040
NM_001197104.2(KMT2A):c.1660C>T (p.Gln554Ter)	rs1949967549
NM_001197104.2(KMT2A):c.3464G>A (p.Cys1155Tyr)	rs1057518074
NM_001197104.2(KMT2A):c.478C>T (p.Arg160Ter)	rs1555034779
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg)	rs574204412
NM_001201543.2(FAM161A):c.1138C>T (p.Arg380Ter)	rs764845483
NM_001201543.2(FAM161A):c.1464G>A (p.Trp488Ter)	rs761440783
NM_001201543.2(FAM161A):c.1525_1530delinsCCCG (p.Cys509fs)	rs2466022357
NM_001201543.2(FAM161A):c.294del (p.Lys98_Val99insTer)	rs762087385
NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter)	rs748847284
NM_001242882.2(NAXD):c.46G>A (p.Val16Ile)	rs1886017898
NM_001243279.3(ACSF3):c.1003del (p.Leu335fs)	rs2151453936
NM_001243279.3(ACSF3):c.1110del (p.Ala371fs)	rs2151454690
NM_001243279.3(ACSF3):c.1172C>G (p.Ser391Ter)	rs2543678040
NM_001243279.3(ACSF3):c.1183_1184del (p.Gln395fs)	rs2151478908
NM_001243279.3(ACSF3):c.1270del (p.Glu424fs)	rs775794698
NM_001243279.3(ACSF3):c.1296del (p.Arg434fs)	rs764608253
NM_001243279.3(ACSF3):c.1328del (p.Thr443fs)	rs2151521127
NM_001243279.3(ACSF3):c.1367-23_1396del	rs1567745645
NM_001243279.3(ACSF3):c.1378dup (p.Val460fs)	rs751342087
NM_001243279.3(ACSF3):c.1385_1407delinsCGGAT (p.Lys462_Arg469delinsThrAsp)	rs2543861142
NM_001243279.3(ACSF3):c.1401G>A (p.Trp467Ter)	rs1912700120
NM_001243279.3(ACSF3):c.1546dup (p.Val516fs)	rs2543867000
NM_001243279.3(ACSF3):c.155_161del (p.Ala52fs)	rs745684193
NM_001243279.3(ACSF3):c.1607G>A (p.Trp536Ter)	rs779820462
NM_001243279.3(ACSF3):c.1609del (p.Ala537fs)	rs1912887899
NM_001243279.3(ACSF3):c.1645G>T (p.Glu549Ter)	rs2543916866
NM_001243279.3(ACSF3):c.16del (p.Val6fs)	rs1338859307
NM_001243279.3(ACSF3):c.261del (p.Cys88fs)	rs775569136
NM_001243279.3(ACSF3):c.408T>G (p.Tyr136Ter)	rs1313088429
NM_001243279.3(ACSF3):c.690G>A (p.Trp230Ter)	rs1432097143
NM_001243279.3(ACSF3):c.757dup (p.Ala253fs)	rs1975494455
NM_001243279.3(ACSF3):c.803del (p.Pro268fs)	rs767946490
NM_001243279.3(ACSF3):c.820C>T (p.Gln274Ter)	rs2151416957
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter)	rs2151444797
NM_001243279.3(ACSF3):c.940C>T (p.Gln314Ter)	rs1976773862
NM_001244008.2(KIF1A):c.38G>A (p.Arg13His)	rs797045050
NM_001244008.2(KIF1A):c.647G>C (p.Arg216Pro)	rs672601368
NM_001244008.2(KIF1A):c.947G>A (p.Arg316Gln)	rs749718096
NM_001244710.2(GFPT1):c.*22C>A	rs199678034
NM_001256545.2(MEGF10):c.1557del (p.Trp520fs)	rs1057518682
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys)	rs150857620
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly)	rs144712077
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)	rs281864930
NM_001271.4(CHD2):c.1937G>A (p.Gly646Glu)	rs1567141162
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln)	rs1567149946
NM_001273.5(CHD4):c.3517C>T (p.Arg1173Trp)	rs1948327010
NM_001277062.2(MFF):c.856T>C (p.Trp286Arg)	rs2076297587
NM_001277115.2(DNAH11):c.13515_13526dup (p.Val4510_Ala4511insLeuAlaGlyVal)	rs1254126467
NM_001277115.2(DNAH11):c.8023A>G (p.Ile2675Val)	rs72657364
NM_001278116.2(L1CAM):c.1704-1G>A	rs1557091678
NM_001278716.2(FBXL4):c.1652T>A (p.Ile551Asn)	rs1554215979
NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met)	rs1554215959
NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys)	rs1489114116
NM_001282225.2(ADA2):c.3G>A (p.Met1Ile)	rs2062397306
NM_001282534.2(KCNK9):c.392G>A (p.Arg131His)	rs867543866
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_001292034.3(TAB2):c.1764+1G>A	rs1782223593
NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter)	rs1479104927
NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln)	rs878853045
NM_001303256.3(MORC2):c.71C>T (p.Thr24Ile)	rs1602510214
NM_001317778.2(SFTPC):c.218T>C (p.Ile73Thr)	rs121917834
NM_001317778.2(SFTPC):c.548G>A (p.Cys183Tyr)	rs1827914094
NM_001320.7(CSNK2B):c.292-2A>C	rs1802000298
NM_001320.7(CSNK2B):c.467G>A (p.Gly156Asp)	rs2151188873
NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs)	rs1555955290
NM_001323289.2(CDKL5):c.454T>C (p.Cys152Arg)	rs1602272932
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)	rs587780586
NM_001349798.2(FBXW7):c.2065C>T (p.Arg689Trp)	rs2126459661
NM_001352514.2(HLCS):c.1063_1064del (p.Asp355fs)	rs2517578591
NM_001352514.2(HLCS):c.1083T>A (p.Cys361Ter)	rs568871363
NM_001352514.2(HLCS):c.1133del (p.Gln378fs)	rs2066903607
NM_001352514.2(HLCS):c.1434C>A (p.Cys478Ter)	rs2066882139
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter)	rs1393866282
NM_001352514.2(HLCS):c.1600_1604del (p.Tyr534fs)	rs2517546301
NM_001352514.2(HLCS):c.1631del (p.Asp544fs)	rs2517424327
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer)	rs1555930523
NM_001352514.2(HLCS):c.1769dup (p.Met590fs)	rs1370055698
NM_001352514.2(HLCS):c.1869del (p.Thr624fs)	rs2065031709
NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg)	rs1555885056
NM_001352514.2(HLCS):c.2144G>A (p.Trp715Ter)	rs1174060268
NM_001352514.2(HLCS):c.2224del (p.Tyr742fs)	rs2516853033
NM_001352514.2(HLCS):c.513dup (p.Thr172fs)	rs2517583431
NM_001352514.2(HLCS):c.664C>T (p.Gln222Ter)	rs1555957134
NM_001352514.2(HLCS):c.664_667del (p.Gln222fs)	rs776431253
NM_001352514.2(HLCS):c.726dup (p.Val243fs)	rs1388238708
NM_001352514.2(HLCS):c.863del (p.Ser288fs)	rs1015594025
NM_001352514.2(HLCS):c.958del (p.Gln320fs)	rs2517579694
NM_001353921.2(ARHGEF9):c.816-9T>C	rs1057522347
NM_001354604.2(MITF):c.1230G>A (p.Thr410=)	rs1057521096
NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln)	rs1057518707
NM_001356.5(DDX3X):c.1595C>T (p.Thr532Met)	rs1064795387
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys)	rs1555954284
NM_001356.5(DDX3X):c.596G>A (p.Arg199His)	rs755750366
NM_001358530.2(MOCS1):c.1027C>T (p.Arg343Ter)	rs746098961
NM_001358530.2(MOCS1):c.1150+1G>T	rs2149398895
NM_001358530.2(MOCS1):c.291del (p.Ala99fs)	rs755808099
NM_001358530.2(MOCS1):c.721del (p.Leu241fs)	rs1767453857
NM_001360.3(DHCR7):c.1066del (p.His356fs)	rs774291653
NM_001360.3(DHCR7):c.1112G>A (p.Trp371Ter)	rs1591107421
NM_001360.3(DHCR7):c.1290C>G (p.Tyr430Ter)	rs140791666
NM_001360.3(DHCR7):c.1328G>A (p.Arg443His)	rs781687341
NM_001360.3(DHCR7):c.355del (p.His119fs)	rs747827699
NM_001360.3(DHCR7):c.385_412+5del	rs746482788
NM_001360.3(DHCR7):c.461C>T (p.Thr154Met)	rs143312232
NM_001360.3(DHCR7):c.696G>A (p.Trp232Ter)	rs1591109892
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg)	rs121909764
NM_001360.3(DHCR7):c.740C>T (p.Ala247Val)	rs886041354
NM_001360.3(DHCR7):c.808A>G (p.Met270Val)	rs1555146021
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu)	rs80338858
NM_001360.3(DHCR7):c.963+1G>T	rs1057516973
NM_001360.3(DHCR7):c.964-1G>C	rs138659167
NM_001360.3(DHCR7):c.964-1G>T	rs138659167
NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp)	rs1557229854
NM_001363118.2(SLC52A2):c.-110-1G>A	rs1554853682
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs)	rs530719719
NM_001365088.1(SLC12A6):c.1118+1G>A	rs762730861
NM_001365088.1(SLC12A6):c.2002C>T (p.Arg668Ter)	rs1416593064
NM_001365088.1(SLC12A6):c.2265G>A (p.Trp755Ter)	rs2509764036
NM_001365088.1(SLC12A6):c.571_572dup (p.Tyr192fs)	rs775111365
NM_001370259.2(MEN1):c.1166G>A (p.Arg389Gln)	rs775267651
NM_001370259.2(MEN1):c.1166G>C (p.Arg389Pro)	rs775267651
NM_001370259.2(MEN1):c.1192C>G (p.Gln398Glu)	rs886039418
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr)	rs386134249
NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp)	rs778670301
NM_001370259.2(MEN1):c.1541C>G (p.Pro514Arg)	rs753022747
NM_001370259.2(MEN1):c.1637C>T (p.Pro546Leu)	rs779413959
NM_001370259.2(MEN1):c.1648G>T (p.Val550Leu)	rs562257963
NM_001370259.2(MEN1):c.1735C>T (p.Leu579Phe)	rs1328296968
NM_001370259.2(MEN1):c.196A>C (p.Ser66Arg)	rs1942005110
NM_001370259.2(MEN1):c.205C>T (p.Pro69Ser)	rs1060499995
NM_001370259.2(MEN1):c.281C>T (p.Thr94Ile)	rs1565651820
NM_001370259.2(MEN1):c.327A>C (p.Glu109Asp)	rs773976527
NM_001370259.2(MEN1):c.485T>C (p.Val162Ala)	rs748648909
NM_001370259.2(MEN1):c.526G>A (p.Ala176Thr)	rs376872829
NM_001370259.2(MEN1):c.668T>C (p.Leu223Pro)	rs886039415
NM_001370259.2(MEN1):c.682A>G (p.Met228Val)	rs1060499982
NM_001370259.2(MEN1):c.686G>A (p.Arg229His)	rs878855197
NM_001370259.2(MEN1):c.754G>C (p.Asp252His)	rs770368608
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu)	rs386134259
NM_001370259.2(MEN1):c.869A>C (p.Glu290Ala)	rs1213891703
NM_001370259.2(MEN1):c.92A>T (p.Glu31Val)	rs1060499977
NM_001370259.2(MEN1):c.949C>T (p.His317Tyr)	rs2136120898
NM_001370259.2(MEN1):c.964A>T (p.Met322Leu)	rs1555165089
NM_001370658.1(BTD):c.-17+1G>A	rs1057516440
NM_001370658.1(BTD):c.-18A>T	rs143058480
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.1211G>C (p.Cys404Ser)	rs397514335
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.1292_1293del (p.Gly431fs)	rs1553654142
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro)	rs181396238
NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter)	rs1559600871
NM_001370658.1(BTD):c.1406A>G (p.Asn469Ser)	rs104893692
NM_001370658.1(BTD):c.1419del (p.Tyr474fs)	rs1559600938
NM_001370658.1(BTD):c.1503del (p.Arg502fs)	rs1163419871
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)	rs80338686
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)	rs397514348
NM_001370658.1(BTD):c.333del (p.Phe111fs)	rs397514356
NM_001370658.1(BTD):c.346del (p.Gln116fs)	rs1404904752
NM_001370658.1(BTD):c.516C>A (p.Tyr172Ter)	rs766476582
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)	rs750363004
NM_001370658.1(BTD):c.527del (p.Thr176fs)	rs1553653680
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)	rs397514376
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)	rs397507174
NM_001370658.1(BTD):c.577del (p.His193fs)	rs780874850
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr)	rs397514380
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.835G>C (p.Ala279Pro)	rs1157567876
NM_001370658.1(BTD):c.932_941del (p.His311fs)	rs773137513
NM_001372.4(DNAH9):c.308del (p.Phe103fs)	rs769795916
NM_001374828.1(ARID1B):c.1629_1647del (p.Gly544fs)	rs1779004027
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs)	rs1289067120
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)	rs797045277
NM_001374828.1(ARID1B):c.5224del (p.Val1742fs)	rs1583502875
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter)	rs1554237658
NM_001377.3(DYNC2H1):c.61T>G (p.Phe21Val)	rs1858012761
NM_001377.3(DYNC2H1):c.8310T>G (p.Tyr2770Ter)	rs1437320571
NM_001378030.1(CCDC78):c.1134-19C>T	rs1320283995
NM_001378120.1(MBD5):c.4548T>C (p.Thr1516=)	rs1681478115
NM_001378418.1(TCF20):c.2568dup (p.Gly857fs)	rs2518225140
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met)	rs797044955
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)	rs886039392
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg)	rs1721483506
NM_001379110.1(SLC9A6):c.1080+17A>G	rs2070960570
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)	rs62625014
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly)	rs137853003
NM_001393769.1(MED12L):c.3664+2T>G	rs2473757315
NM_001395413.1(POR):c.1405G>C (p.Val469Leu)	rs72557946
NM_001429.4(EP300):c.2660C>T (p.Thr887Ile)	rs953108559
NM_001453.3(FOXC1):c.388C>T (p.Leu130Phe)	rs121909338
NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs)	rs745744124
NM_001567.4(INPPL1):c.2213-2A>C	rs1948918434
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys)	rs1568060200
NM_001658.4(ARF1):c.278A>G (p.Asp93Gly)	rs2124857932
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn)	rs587777620
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile)	rs587777620
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys)	rs864309721
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)	rs121912874
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser)	rs587780588
NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg)	rs797045034
NM_001848.3(COL6A1):c.1226C>A (p.Ala409Glu)	rs765826390
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg)	rs121912939
NM_001848.3(COL6A1):c.930+189C>T	rs1556425596
NM_001854.4(COL11A1):c.2754+5G>A	rs1057518666
NM_001863.5(COX6B1):c.58C>T (p.Arg20Cys)	rs778740017
NM_001875.5(CPS1):c.306_311dup (p.Asn103_Gly104dup)	rs1288123680
NM_001875.5(CPS1):c.3949C>T (p.Arg1317Trp)	rs1458915316
NM_001876.4(CPT1A):c.1163+2T>C	rs1555229059
NM_001876.4(CPT1A):c.1328dup (p.Leu444fs)	rs2153997913
NM_001876.4(CPT1A):c.1762_1766dup (p.Tyr589Ter)	rs2153995212
NM_001876.4(CPT1A):c.1876-1G>A	rs80356798
NM_001876.4(CPT1A):c.1879G>T (p.Glu627Ter)	rs2495513283
NM_001876.4(CPT1A):c.2018_2022del (p.Pro672_Phe673insTer)	rs1163935346
NM_001876.4(CPT1A):c.222C>A (p.Tyr74Ter)	rs398123654
NM_001876.4(CPT1A):c.693+1G>A	rs1055176086
NM_001918.5(DBT):c.1343G>A (p.Trp448Ter)	rs749366506
NM_001918.5(DBT):c.143_146dup (p.His49fs)	rs1384034981
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del)	rs1217050849
NM_001918.5(DBT):c.29G>A (p.Trp10Ter)	rs572340170
NM_001918.5(DBT):c.457del (p.Thr153fs)	rs2524165156
NM_001918.5(DBT):c.51+1G>C	rs398123669
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.828del (p.Phe276fs)	rs2524147800
NM_001918.5(DBT):c.961C>T (p.Gln321Ter)	rs1662088383
NM_001943.5(DSG2):c.3052dup (p.Glu1018fs)	rs1261674855
NM_001953.5(TYMP):c.1048C>T (p.Gln350Ter)	rs765023287
NM_001953.5(TYMP):c.1160G>A (p.Gly387Asp)	rs1064792873
NM_001953.5(TYMP):c.1187CGCTGG[1] (p.Ala398_Leu399del)	rs786205098
NM_001953.5(TYMP):c.1198_1203del (p.Val400_Leu401del)	rs1027855768
NM_001953.5(TYMP):c.1301-1G>A	rs773785934
NM_001953.5(TYMP):c.275C>A (p.Thr92Asn)	rs891107196
NM_001953.5(TYMP):c.323G>A (p.Trp108Ter)	rs2522546758
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp)	rs1064792872
NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn)	rs886041197
NM_001985.3(ETFB):c.253C>T (p.Arg85Ter)	rs187424345
NM_001985.3(ETFB):c.491G>A (p.Arg164Gln)	rs104894677
NM_001985.3(ETFB):c.61del (p.Arg21fs)	rs2514156024
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)	rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)	rs558269137
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter)	rs138726443
NM_002016.2(FLG):c.7945del (p.Ser2649fs)	rs538406713
NM_002055.5(GFAP):c.197G>A (p.Arg66Gln)	rs797044569
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)	rs869312823
NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu)	rs368775789
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn)	rs398123679
NM_002225.5(IVD):c.109G>A (p.Asp37Asn)	rs2141289961
NM_002225.5(IVD):c.1179del (p.Leu394fs)	rs786204613
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter)	rs398123681
NM_002225.5(IVD):c.1186G>C (p.Asp396His)	rs1566943451
NM_002225.5(IVD):c.1222G>A (p.Glu408Lys)	rs755693286
NM_002225.5(IVD):c.148C>T (p.Arg50Cys)	rs34695403
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)	rs2229311
NM_002225.5(IVD):c.243G>A (p.Trp81Ter)	rs540375168
NM_002225.5(IVD):c.349C>T (p.Arg117Ter)	rs776015412
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup)	rs796051982
NM_002225.5(IVD):c.467G>C (p.Gly156Ala)	rs1221254988
NM_002225.5(IVD):c.599del (p.Pro200fs)	rs1566936542
NM_002225.5(IVD):c.618del (p.Ile206fs)	rs781630355
NM_002225.5(IVD):c.631A>G (p.Thr211Ala)	rs747807491
NM_002225.5(IVD):c.650del (p.Pro217fs)	rs1364046355
NM_002225.5(IVD):c.667dup (p.Thr223fs)	rs2542698265
NM_002225.5(IVD):c.870dup (p.Pro291fs)	rs759159766
NM_002225.5(IVD):c.960G>T (p.Gln320His)	rs367814475
NM_002233.4(KCNA4):c.266G>A (p.Arg89Gln)	rs779101828
NM_002397.5(MEF2C):c.137T>A (p.Ile46Asn)	rs1799660837
NM_002435.3(MPI):c.1001_1002dup (p.Leu335fs)	rs2505829401
NM_002435.3(MPI):c.1022dup (p.Val342fs)	rs765310894
NM_002435.3(MPI):c.1023del (p.Val342fs)	rs1555479441
NM_002435.3(MPI):c.1054del	rs752976348
NM_002435.3(MPI):c.1064_1065del (p.Ser355fs)	rs2064839839
NM_002435.3(MPI):c.1087del (p.Ala363fs)	rs2141209567
NM_002435.3(MPI):c.166dup (p.Arg56fs)	rs786204593
NM_002435.3(MPI):c.339_342dup (p.Lys115Ter)	rs1661886822
NM_002435.3(MPI):c.413T>C (p.Met138Thr)	rs104894495
NM_002435.3(MPI):c.631del (p.Glu211fs)	rs1374119101
NM_002435.3(MPI):c.679G>T (p.Gly227Ter)	rs747198298
NM_002435.3(MPI):c.713del (p.Leu238fs)	rs745432667
NM_002435.3(MPI):c.727C>T (p.Gln243Ter)	rs749911553
NM_002435.3(MPI):c.84_88del (p.Arg29fs)	rs753839890
NM_002435.3(MPI):c.880dup (p.Val294fs)	rs1555479351
NM_002435.3(MPI):c.991del (p.Glu331fs)	rs1555479423
NM_002437.5(MPV17):c.451dup (p.Leu151fs)	rs267607267
NM_002470.4(MYH3):c.2015G>A (p.Arg672His)	rs121913617
NM_002485.5(NBN):c.584+2T>C	rs1586101154
NM_002495.4(NDUFS4):c.350+1G>A	rs1260453815
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs)	rs1445075330
NM_002528.7(NTHL1):c.164_165del (p.Arg55fs)	rs1290880136
NM_002528.7(NTHL1):c.199A>T (p.Lys67Ter)	rs2548320872
NM_002528.7(NTHL1):c.203del (p.Gly68fs)	rs1555492819
NM_002528.7(NTHL1):c.211dup (p.Ala71fs)	rs745671590
NM_002528.7(NTHL1):c.232del (p.Val78fs)	rs1314290585
NM_002528.7(NTHL1):c.350del (p.Pro117fs)	rs763525759
NM_002528.7(NTHL1):c.350dup (p.Val119fs)	rs763525759
NM_002528.7(NTHL1):c.391_392del (p.Ser131fs)	rs1596220478
NM_002528.7(NTHL1):c.625_626del (p.Val209fs)	rs2150941243
NM_002529.4(NTRK1):c.360-2A>C	rs797045059
NM_002617.4(PEX10):c.157_158del (p.Ser53fs)	rs1384671249
NM_002617.4(PEX10):c.219C>G (p.Tyr73Ter)	rs531987102
NM_002617.4(PEX10):c.338del (p.Leu113fs)	rs878853044
NM_002617.4(PEX10):c.363del (p.Asp122fs)	rs2522278305
NM_002617.4(PEX10):c.401_416dup (p.Gly140fs)	rs2100429011
NM_002617.4(PEX10):c.408_423dup (p.Arg142fs)	rs2522277539
NM_002617.4(PEX10):c.496del (p.Val166fs)	rs770937339
NM_002617.4(PEX10):c.551del (p.Ile184fs)	rs1557910202
NM_002617.4(PEX10):c.601-38_601-37del	rs1553231896
NM_002617.4(PEX10):c.692_703del (p.Ser231_Gln235delinsTer)	rs768893724
NM_002617.4(PEX10):c.703C>T (p.Gln235Ter)	rs1295555837
NM_002617.4(PEX10):c.755_756del (p.His252fs)	rs1325771720
NM_002617.4(PEX10):c.858_870del (p.Pro287fs)	rs2522256568
NM_002617.4(PEX10):c.882G>A (p.Trp294Ter)	rs2522256455
NM_002617.4(PEX10):c.8del (p.Pro3fs)	rs1257198952
NM_002617.4(PEX10):c.912+1G>C	rs1553231739
NM_002617.4(PEX10):c.913-2A>C	rs758250423
NM_002641.4(PIGA):c.241C>T (p.Arg81Cys)	rs1569180071
NM_002691.4(POLD1):c.1107G>C (p.Gln369His)	rs1400257948
NM_002691.4(POLD1):c.1123G>A (p.Glu375Lys)	rs2038731369
NM_002691.4(POLD1):c.1127A>G (p.Asp376Gly)	rs1231801192
NM_002691.4(POLD1):c.1204G>A (p.Asp402Asn)	rs1426325954
NM_002691.4(POLD1):c.1294C>G (p.Arg432Gly)	rs774130423
NM_002691.4(POLD1):c.1421T>C (p.Leu474Pro)	rs587777627
NM_002691.4(POLD1):c.1433G>A (p.Ser478Asn)	rs397514632
NM_002693.3(POLG):c.1276G>A (p.Gly426Ser)	rs775576189
NM_002693.3(POLG):c.1575_1578del (p.Met525fs)	rs1253517114
NM_002693.3(POLG):c.172C>T (p.Gln58Ter)	rs2055625602
NM_002693.3(POLG):c.178C>T (p.Gln60Ter)	rs780379693
NM_002693.3(POLG):c.1818del (p.Trp607fs)	rs2055505065
NM_002693.3(POLG):c.2293C>A (p.Pro765Thr)	rs1003442806
NM_002693.3(POLG):c.2395del (p.Ser799fs)	rs796052919
NM_002693.3(POLG):c.2606G>A (p.Arg869Gln)	rs1356604153
NM_002693.3(POLG):c.264C>G (p.Phe88Leu)	rs144439703
NM_002693.3(POLG):c.2869G>T (p.Ala957Ser)	rs121918051
NM_002693.3(POLG):c.2884dup (p.Ala962fs)	rs1252078081
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)	rs121918049
NM_002693.3(POLG):c.3240_3242dup (p.Arg1081dup)	rs1064794213
NM_002693.3(POLG):c.3311C>G (p.Ser1104Cys)	rs1010372555
NM_002693.3(POLG):c.3358_3361dup (p.Glu1121delinsValTer)	rs1064793800
NM_002693.3(POLG):c.3482+2T>C	rs1466226819
NM_002693.3(POLG):c.3528_3531dup (p.Ala1178fs)	rs1596348547
NM_002693.3(POLG):c.3538_3539dup (p.Ala1182fs)	rs2509185174
NM_002693.3(POLG):c.3609_3612dup (p.Gly1205fs)	rs886043241
NM_002693.3(POLG):c.824G>A (p.Arg275Gln)	rs1555453950
NM_002693.3(POLG):c.830A>T (p.His277Leu)	rs138929605
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val)	rs397507509
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)	rs121918461
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)	rs121918454
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys)	rs121918464
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala)	rs397507519
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	rs397507520
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	rs121918456
NM_002878.4(RAD51D):c.131_144+24del	rs1064795716
NM_002878.4(RAD51D):c.216_218del (p.Tyr72_Glu73delinsTer)	rs2509181675
NM_002878.4(RAD51D):c.264-2A>G	rs1555568514
NM_002878.4(RAD51D):c.270_271dup (p.Lys91fs)	rs753862052
NM_002878.4(RAD51D):c.294_295del (p.Thr99fs)	rs2509143037
NM_002878.4(RAD51D):c.330dup (p.Ser111Ter)	rs786202434
NM_002878.4(RAD51D):c.336C>T (p.Gly112=)	rs2142436504
NM_002878.4(RAD51D):c.463C>T (p.Gln155Ter)	rs1555568293
NM_002878.4(RAD51D):c.51_52delinsG (p.Ile17fs)	rs2142480422
NM_002878.4(RAD51D):c.576+1G>T	rs781161543
NM_002878.4(RAD51D):c.577-2A>G	rs1555567649
NM_002878.4(RAD51D):c.671T>A (p.Leu224Ter)	rs1567726305
NM_002878.4(RAD51D):c.694_697dup (p.Glu233fs)	rs2142418516
NM_002878.4(RAD51D):c.738+14C>T	rs374761868
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter)	rs137886232
NM_002878.4(RAD51D):c.772_778del (p.Gly258fs)	rs1064795045
NM_002878.4(RAD51D):c.81del (p.Val28fs)	rs1064793952
NM_002878.4(RAD51D):c.83-4_83-3delinsAG	rs2091789505
NM_002878.4(RAD51D):c.898del (p.Arg300fs)	rs786202251
NM_002878.4(RAD51D):c.94_95del (p.Val32fs)	rs786203137
NM_002880.4(RAF1):c.776C>G (p.Ser259Cys)	rs397516827
NM_002880.4(RAF1):c.779C>A (p.Thr260Lys)	rs869025501
NM_002887.4(RARS1):c.2T>C (p.Met1Thr)	rs769713780
NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter)	rs1597229404
NM_002971.6(SATB1):c.95G>A (p.Arg32His)	rs1698356763
NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln)	rs794726859
NM_003052.5(SLC34A1):c.532+2T>C	rs1762582225
NM_003060.4(SLC22A5):c.1084del (p.Ser362fs)	rs1580892239
NM_003060.4(SLC22A5):c.1158del (p.Tyr387fs)	rs1580892402
NM_003060.4(SLC22A5):c.1175TGC[2] (p.Leu394del)	rs386134215
NM_003060.4(SLC22A5):c.1240del (p.Leu414fs)	rs2126789878
NM_003060.4(SLC22A5):c.1298T>C (p.Met433Thr)	rs779385095
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile)	rs267607053
NM_003060.4(SLC22A5):c.1347del (p.Val448_Tyr449insTer)	rs2532138401
NM_003060.4(SLC22A5):c.1350del (p.Ala451fs)	rs2126791456
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.1411C>T (p.Arg471Cys)	rs749282641
NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His)	rs386134223
NM_003060.4(SLC22A5):c.1412G>C (p.Arg471Pro)	rs386134223
NM_003060.4(SLC22A5):c.1433C>T (p.Pro478Leu)	rs72552735
NM_003060.4(SLC22A5):c.1451-2A>G	rs2532141155
NM_003060.4(SLC22A5):c.1458C>A (p.Tyr486Ter)	rs763224132
NM_003060.4(SLC22A5):c.1586+1G>T	rs386134226
NM_003060.4(SLC22A5):c.160_166dup (p.Ala56fs)	rs1057516797
NM_003060.4(SLC22A5):c.394-1G>T	rs1057517106
NM_003060.4(SLC22A5):c.42G>A (p.Trp14Ter)	rs796052036
NM_003060.4(SLC22A5):c.497+1G>A	rs2532106834
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp)	rs121908890
NM_003060.4(SLC22A5):c.52del (p.Gln18fs)	rs1022453298
NM_003060.4(SLC22A5):c.538C>G (p.Gln180Glu)	rs1437174685
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del)	rs377767444
NM_003060.4(SLC22A5):c.700G>C (p.Gly234Arg)	rs1457258524
NM_003060.4(SLC22A5):c.725G>T (p.Gly242Val)	rs72552728
NM_003060.4(SLC22A5):c.740C>G (p.Pro247Arg)	rs2126783802
NM_003060.4(SLC22A5):c.791C>G (p.Thr264Arg)	rs201262157
NM_003060.4(SLC22A5):c.797C>T (p.Pro266Leu)	rs538372785
NM_003060.4(SLC22A5):c.802del (p.Val268fs)	rs2126783993
NM_003060.4(SLC22A5):c.825G>A (p.Trp275Ter)	rs386134207
NM_003060.4(SLC22A5):c.844dup (p.Arg282fs)	rs386134209
NM_003070.5(SMARCA2):c.2348C>T (p.Ser783Leu)	rs1554623112
NM_003070.5(SMARCA2):c.2361C>A (p.Asn787Lys)	rs1343138502
NM_003072.5(SMARCA4):c.134C>A (p.Pro45His)	rs367601832
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys)	rs2086534839
NM_003072.5(SMARCA4):c.1408C>T (p.Gln470Ter)	rs1555757738
NM_003072.5(SMARCA4):c.229G>T (p.Glu77Ter)	rs1568419675
NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val)	rs2146416371
NM_003072.5(SMARCA4):c.2704G>A (p.Val902Met)	rs1600278307
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)	rs797045981
NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His)	rs770680174
NM_003072.5(SMARCA4):c.407C>T (p.Ala136Val)	rs535299273
NM_003072.5(SMARCA4):c.4636-10C>A	rs878854228
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn)	rs1568963037
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His)	rs398122368
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln)	rs1057517825
NM_003079.5(SMARCE1):c.92del (p.Tyr31fs)	rs2144009190
NM_003104.6(SORD):c.757del (p.Ala253fs)	rs55901542
NM_003108.4(SOX11):c.700G>T (p.Glu234Ter)	rs780122780
NM_003119.4(SPG7):c.1186G>T (p.Glu396Ter)	rs2058358241
NM_003227.4(TFR2):c.1849GCCGTGGCCCAG[1] (p.617AVAQ[1])	rs80338888
NM_003227.4(TFR2):c.313C>T (p.Arg105Ter)	rs80338878
NM_003227.4(TFR2):c.862C>T (p.Gln288Ter)	rs1398396879
NM_003238.6(TGFB2):c.458G>A (p.Arg153His)	rs1057518684
NM_003309.4(TSPYL1):c.725_726del (p.Val242fs)	rs775957625
NM_003392.7(WNT5A):c.206G>A (p.Cys69Tyr)	rs786204837
NM_003392.7(WNT5A):c.461G>T (p.Cys154Phe)	rs2051315439
NM_003394.4(WNT10B):c.338-1G>C	rs1163162816
NM_003470.3(USP7):c.3043G>A (p.Glu1015Lys)	rs2549212988
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys)	rs398123724
NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His)	rs886041404
NM_003482.4(KMT2D):c.8059C>T (p.Arg2687Ter)	rs1555191598
NM_003482.4(KMT2D):c.8241C>A (p.Ser2747Arg)	rs1943376258
NM_003491.4(NAA10):c.215T>C (p.Ile72Thr)	rs1057519448
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)	rs727503909
NM_003506.4(FZD6):c.869A>G (p.Tyr290Cys)	rs786205672
NM_003560.4(PLA2G6):c.755del (p.Asn252fs)	rs587784361
NM_003659.4(AGPS):c.1256G>A (p.Arg419His)	rs121434411
NM_003659.4(AGPS):c.926C>T (p.Thr309Ile)	rs121434412
NM_003664.5(AP3B1):c.2640del (p.Gly881fs)	rs2530812497
NM_003664.5(AP3B1):c.3015_3016dup (p.Thr1006fs)	rs1746822963
NM_003709.4(KLF7):c.410C>T (p.Thr137Met)	rs1276619385
NM_003718.5(CDK13):c.2251C>T (p.Arg751Ter)	rs1295790880
NM_003718.5(CDK13):c.2639G>A (p.Arg880His)	rs761752355
NM_003718.5(CDK13):c.484dup (p.Ala162fs)	rs1405252481
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val)	rs104894709
NM_003721.4(RFXANK):c.713-1G>A	rs2060720733
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer)	rs56126236
NM_003748.4(ALDH4A1):c.866+1G>A	rs78532707
NM_003764.4(STX11):c.645dup (p.Arg216fs)	rs2533804808
NM_003764.4(STX11):c.697del (p.Val233fs)	rs1013453454
NM_003764.4(STX11):c.83C>A (p.Ser28Ter)	rs143547259
NM_003907.3(EIF2B5):c.185A>T (p.Asp62Val)	rs1560105986
NM_003919.3(SGCE):c.551T>C (p.Leu184Pro)	rs1064794321
NM_003924.4(PHOX2B):c.385G>A (p.Glu129Lys)	rs1560466246
NM_003924.4(PHOX2B):c.741_758dup (p.Ala255_Ala260dup)	rs771383153
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter)	rs121908356
NM_003982.4(SLC7A7):c.1185_1188del (p.Ser396fs)	rs386833800
NM_003982.4(SLC7A7):c.1228C>T (p.Arg410Ter)	rs121908678
NM_003982.4(SLC7A7):c.1263_1269del (p.Ile422fs)	rs2139383552
NM_003982.4(SLC7A7):c.1322_1325dup (p.Ser443fs)	rs2501833115
NM_003982.4(SLC7A7):c.1381_1384del (p.Ile461fs)	rs2501832390
NM_003982.4(SLC7A7):c.1395del (p.Glu465fs)	rs1290445670
NM_003982.4(SLC7A7):c.215_218del (p.Ser72fs)	rs386833812
NM_003982.4(SLC7A7):c.346_349del (p.Ala116fs)	rs2501975297
NM_003982.4(SLC7A7):c.516del (p.Asn173fs)	rs2038690553
NM_003982.4(SLC7A7):c.539del (p.Gly180fs)	rs1414333836
NM_003982.4(SLC7A7):c.573del (p.Val192fs)	rs2501863948
NM_003982.4(SLC7A7):c.622C>T (p.Gln208Ter)	rs386833821
NM_003982.4(SLC7A7):c.625+1G>T	rs386833822
NM_003982.4(SLC7A7):c.70del (p.Ala24fs)	rs2501977813
NM_003982.4(SLC7A7):c.713C>T (p.Ser238Phe)	rs386833823
NM_003982.4(SLC7A7):c.725G>A (p.Trp242Ter)	rs2038664064
NM_003982.4(SLC7A7):c.766G>T (p.Glu256Ter)	rs2139394686
NM_003982.4(SLC7A7):c.895-2A>G	rs146582474
NM_003982.4(SLC7A7):c.930G>A (p.Trp310Ter)	rs2038594225
NM_004006.3(DMD):c.31+36947G>A	rs886042106
NM_004006.3(DMD):c.6613_6614del (p.Arg2205fs)	rs2534072629
NM_004006.3(DMD):c.883C>T (p.Arg295Ter)	rs727503864
NM_004040.4(RHOB):c.218C>T (p.Ser73Phe)	rs550750241
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser)	rs1553798675
NM_004113.6(FGF12):c.155G>A (p.Arg52His)	rs886039903
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu)	rs1057518697
NM_004208.4(AIFM1):c.720C>T (p.Asp240=)	rs1569418673
NM_004260.4(RECQL4):c.2086C>A (p.Arg696Ser)	rs531970883
NM_004260.4(RECQL4):c.2880C>G (p.Ala960=)	rs766684128
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile)	rs397507484
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)	rs180177042
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr)	rs796052093
NM_004373.4(COX6A1):c.247-7_247-3del	rs587777783
NM_004380.3(CREBBP):c.2701C>T (p.Pro901Ser)	rs148286133
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)	rs267606752
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)	rs797045037
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)	rs770873593
NM_004415.4(DSP):c.4297C>T (p.Gln1433Ter)	rs1554108283
NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter)	rs1554108431
NM_004453.4(ETFDH):c.1011del (p.Phe337fs)	rs757063739
NM_004453.4(ETFDH):c.1117-2A>G	rs764060500
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro)	rs387907170
NM_004453.4(ETFDH):c.1134del (p.Pro380fs)	rs1369800014
NM_004453.4(ETFDH):c.1136_1140del (p.Phe379fs)	rs2126309189
NM_004453.4(ETFDH):c.1368_1371del (p.Ser457fs)	rs2476732226
NM_004453.4(ETFDH):c.1433del (p.Ile477_Leu478insTer)	rs966234208
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln)	rs534388496
NM_004453.4(ETFDH):c.1555_1556del (p.Leu519fs)	rs1774630121
NM_004453.4(ETFDH):c.1570_1571del (p.Leu524fs)	rs727503919
NM_004453.4(ETFDH):c.1631dup (p.Pro545fs)	rs771393519
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)	rs772351035
NM_004453.4(ETFDH):c.251C>T (p.Ala84Val)	rs1580396712
NM_004453.4(ETFDH):c.269T>A (p.Leu90Ter)	rs749085653
NM_004453.4(ETFDH):c.302_303dup (p.Leu102fs)	rs796051962
NM_004453.4(ETFDH):c.34+5G>C	rs1373597092
NM_004453.4(ETFDH):c.344C>G (p.Ser115Ter)	rs2150305273
NM_004453.4(ETFDH):c.405+3A>G	rs796051965
NM_004453.4(ETFDH):c.406-2A>G	rs2150306282
NM_004453.4(ETFDH):c.430G>T (p.Glu144Ter)	rs2479086062
NM_004453.4(ETFDH):c.462C>G (p.Tyr154Ter)	rs878853082
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly)	rs549150456
NM_004453.4(ETFDH):c.488-1G>T	rs2150306551
NM_004453.4(ETFDH):c.56del (p.Ala18_Leu19insTer)	rs2150304339
NM_004453.4(ETFDH):c.583_584dup (p.Pro196fs)	rs2150306625
NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe)	rs1450977775
NM_004453.4(ETFDH):c.972+1del	rs2479117770
NM_004463.3(FGD1):c.527del (p.Pro176fs)	rs756586058
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)	rs749205120
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys)	rs587777570
NM_004553.6(NDUFS6):c.344G>A (p.Cys115Tyr)	rs267606913
NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp)	rs869025541
NM_004628.5(XPC):c.103+1G>A	rs1423398589
NM_004628.5(XPC):c.1872+1G>C	rs1559374923
NM_004628.5(XPC):c.2216_2217del (p.Glu739fs)	rs1559369237
NM_004628.5(XPC):c.622-2A>G	rs201940931
NM_004628.5(XPC):c.958C>T (p.Gln320Ter)	rs867461743
NM_004629.2(FANCG):c.1144-1G>C	rs755363896
NM_004629.2(FANCG):c.1158dup (p.Ser387fs)	rs757418016
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter)	rs1384748892
NM_004629.2(FANCG):c.1652_1655del (p.Tyr551fs)	rs770263417
NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter)	rs1829041127
NM_004629.2(FANCG):c.1771dup (p.Leu591fs)	rs746392434
NM_004629.2(FANCG):c.212T>C (p.Leu71Pro)	rs1829130135
NM_004629.2(FANCG):c.552dup (p.Ser185fs)	rs1412207017
NM_004629.2(FANCG):c.572T>G (p.Leu191Ter)	rs755361015
NM_004629.2(FANCG):c.619del (p.Leu207fs)	rs2490404478
NM_004629.2(FANCG):c.646+1G>T	rs1028569753
NM_004629.2(FANCG):c.908T>C (p.Leu303Pro)	rs1563986439
NM_004629.2(FANCG):c.981dup (p.Leu328fs)	rs2131055463
NM_004646.4(NPHS1):c.1020del (p.Ser341fs)	rs1555763372
NM_004646.4(NPHS1):c.1117C>T (p.Arg373Ter)	rs753535989
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.1394G>A (p.Cys465Tyr)	rs386833881
NM_004646.4(NPHS1):c.139del (p.Ala47fs)	rs386833882
NM_004646.4(NPHS1):c.2072-6C>G	rs200253809
NM_004646.4(NPHS1):c.2156_2163del (p.Leu719fs)	rs386833903
NM_004646.4(NPHS1):c.2160dup (p.Cys721fs)	rs386833904
NM_004646.4(NPHS1):c.2172_2173del (p.Glu725fs)	rs386833906
NM_004646.4(NPHS1):c.2206G>A (p.Val736Met)	rs1131692245
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp)	rs386833911
NM_004646.4(NPHS1):c.248dup (p.Tyr83Ter)	rs386833914
NM_004646.4(NPHS1):c.2515del (p.Gln839fs)	rs386833918
NM_004646.4(NPHS1):c.2549_2558del (p.Ala850fs)	rs386833919
NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs)	rs386833921
NM_004646.4(NPHS1):c.2663+2T>A	rs762392183
NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys)	rs778951863
NM_004646.4(NPHS1):c.2928-3del	rs2513765932
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.3312-1G>C	rs786204729
NM_004646.4(NPHS1):c.3554del (p.Pro1185fs)	rs750714387
NM_004646.4(NPHS1):c.3622_3625del (p.Asp1208fs)	rs1186290245
NM_004646.4(NPHS1):c.398-1G>A	rs386833942
NM_004646.4(NPHS1):c.44_45dup (p.Leu16fs)	rs1555764281
NM_004646.4(NPHS1):c.479G>C (p.Cys160Ser)	rs386833944
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.614_621delinsTT (p.Thr205_Arg207delinsIle)	rs1555763603
NM_004646.4(NPHS1):c.619del (p.Arg207fs)	rs778217926
NM_004646.4(NPHS1):c.710T>C (p.Leu237Pro)	rs373835033
NM_004646.4(NPHS1):c.866G>A (p.Trp289Ter)	rs781584590
NM_004655.4(AXIN2):c.1404CCA[7] (p.His474dup)	rs570443161
NM_004656.4(BAP1):c.119dup (p.Val43fs)	rs2471364013
NM_004656.4(BAP1):c.1217A>C (p.Glu406Ala)	rs535695655
NM_004656.4(BAP1):c.1235C>T (p.Thr412Ile)	rs760363108
NM_004656.4(BAP1):c.1337A>T (p.Asn446Ile)	rs751399960
NM_004656.4(BAP1):c.1535G>A (p.Arg512His)	rs778596308
NM_004656.4(BAP1):c.1801_1805delinsGAGGT (p.Lys601_Glu602delinsGluVal)	rs1060503748
NM_004656.4(BAP1):c.1869del (p.Ser623fs)	rs2471324551
NM_004656.4(BAP1):c.2012del (p.Tyr671fs)	rs2471320496
NM_004656.4(BAP1):c.518A>G (p.Tyr173Cys)	rs1705195392
NM_004656.4(BAP1):c.592del (p.Glu198fs)	rs1205668341
NM_004656.4(BAP1):c.757C>T (p.Gln253Ter)	rs776240891
NM_004656.4(BAP1):c.793_817dup (p.Thr273fs)	rs2471341236
NM_004656.4(BAP1):c.953dup (p.Ser319fs)	rs2471337286
NM_004836.7(EIF2AK3):c.1762C>T (p.Arg588Ter)	rs754973185
NM_004937.3(CTNS):c.1036_1047del (p.Asp346_Phe349del)	rs771552404
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.768dup (p.Val257fs)	rs1567713938
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_004975.4(KCNB1):c.1041C>G (p.Ser347Arg)	rs587777848
NM_004975.4(KCNB1):c.1343T>C (p.Met448Thr)	rs1984239884
NM_004975.4(KCNB1):c.536T>C (p.Leu179Pro)	rs2122803080
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)	rs1555889162
NM_004975.4(KCNB1):c.737T>G (p.Leu246Arg)	rs1601071839
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu)	rs193929331
NM_004994.3(MMP9):c.987C>A (p.Cys329Ter)	rs1302101551
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)	rs397518423
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)	rs587776934
NM_005050.4(ABCD4):c.1667_1668del (p.Glu556fs)	rs763777109
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly)	rs1379395211
NM_005101.4(ISG15):c.4-1G>A	rs1644247121
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)	rs80338758
NM_005120.3(MED12):c.5625del (p.Gly1876fs)	rs2519714036
NM_005120.3(MED12):c.6211del (p.Gln2071fs)	rs2519721261
NM_005138.3(SCO2):c.227_230del (p.Leu76fs)	rs780824645
NM_005138.3(SCO2):c.45_46del (p.Gln16fs)	rs1248665081
NM_005157.6(ABL1):c.689C>T (p.Pro230Leu)	rs1831097846
NM_005188.4(CBL):c.1112A>C (p.Tyr371Ser)	rs387906666
NM_005188.4(CBL):c.1202G>T (p.Cys401Phe)	rs1357686410
NM_005188.4(CBL):c.1228-2A>G	rs727504426
NM_005249.5(FOXG1):c.565C>G (p.Leu189Val)	rs1555321308
NM_005276.4(GPD1):c.361G>A (p.Gly121Arg)	rs35428353
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)	rs104894228
NM_005343.4(HRAS):c.386A>G (p.Gln129Arg)	rs1851242529
NM_005359.6(SMAD4):c.1231_1232del (p.Ser411fs)	rs730881952
NM_005359.6(SMAD4):c.1309G>A (p.Val437Ile)	rs1568211172
NM_005359.6(SMAD4):c.1549_1550del (p.Ser517fs)	rs377767373
NM_005359.6(SMAD4):c.664A>G (p.Thr222Ala)	rs770461626
NM_005359.6(SMAD4):c.812G>A (p.Ser271Asn)	rs1343555503
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.1727G>A (p.Gly576Glu)	rs121908625
NM_005476.7(GNE):c.1771G>A (p.Ala591Thr)	rs752286512
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.22C>T (p.Arg8Ter)	rs766420673
NM_005476.7(GNE):c.385C>T (p.Arg129Ter)	rs372872777
NM_005476.7(GNE):c.484C>T (p.Arg162Cys)	rs769215411
NM_005476.7(GNE):c.5A>G (p.Glu2Gly)	rs1830025657
NM_005476.7(GNE):c.694del (p.Met232fs)	rs1554661549
NM_005476.7(GNE):c.827T>G (p.Phe276Cys)	rs2489717397
NM_005476.7(GNE):c.893T>C (p.Ile298Thr)	rs757091387
NM_005476.7(GNE):c.910G>A (p.Gly304Arg)	rs755743750
NM_005476.7(GNE):c.961C>T (p.Arg321Cys)	rs1554661030
NM_005499.3(UBA2):c.1834A>T (p.Arg612Trp)	rs2513988291
NM_005585.5(SMAD6):c.511G>T (p.Glu171Ter)	rs1893037722
NM_005585.5(SMAD6):c.817G>T (p.Glu273Ter)	rs1259557323
NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter)	rs371077728
NM_005591.4(MRE11):c.1100_1131del (p.Val367fs)	rs1946499901
NM_005591.4(MRE11):c.1127del (p.Phe376fs)	rs2496427766
NM_005591.4(MRE11):c.1143del (p.Phe381fs)	rs863224508
NM_005591.4(MRE11):c.1280dup (p.Leu427fs)	rs2134999988
NM_005591.4(MRE11):c.1441del (p.Thr481fs)	rs747832587
NM_005591.4(MRE11):c.1447C>T (p.Arg483Ter)	rs780001540
NM_005591.4(MRE11):c.1458_1461del (p.Lys486fs)	rs780775598
NM_005591.4(MRE11):c.1532dup (p.Asn511fs)	rs757691558
NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter)	rs774277300
NM_005591.4(MRE11):c.1868-5T>C	rs773911334
NM_005591.4(MRE11):c.1888C>T (p.Gln630Ter)	rs2134840569
NM_005591.4(MRE11):c.1927-2A>G	rs587781822
NM_005591.4(MRE11):c.229G>T (p.Glu77Ter)	rs779269083
NM_005591.4(MRE11):c.295_298del (p.Val99fs)	rs1555017184
NM_005591.4(MRE11):c.571C>T (p.Arg191Ter)	rs1157413766
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys)	rs137852763
NM_005591.4(MRE11):c.664A>T (p.Lys222Ter)	rs371455048
NM_005591.4(MRE11):c.784del (p.Tyr262fs)	rs2496495153
NM_005591.4(MRE11):c.820_821del (p.Leu274fs)	rs1565228898
NM_005609.4(PYGM):c.1045G>A (p.Glu349Lys)	rs2496659888
NM_005609.4(PYGM):c.1119T>A (p.Cys373Ter)	rs2058377004
NM_005609.4(PYGM):c.125del (p.Lys42fs)	rs2496675458
NM_005609.4(PYGM):c.1278_1288dup (p.Ser430fs)	rs2058372554
NM_005609.4(PYGM):c.1362_1394del (p.Asn454_Leu464del)	rs2496656680
NM_005609.4(PYGM):c.1466dup (p.Arg490fs)	rs886041476
NM_005609.4(PYGM):c.1475G>A (p.Trp492Ter)	rs2496655165
NM_005609.4(PYGM):c.1545_1546del (p.Leu516fs)	rs2058363627
NM_005609.4(PYGM):c.1620+1G>A	rs1256894448
NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter)	rs752848974
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del)	rs527236147
NM_005609.4(PYGM):c.2146dup (p.Val716fs)	rs2496647974
NM_005609.4(PYGM):c.21_28dup (p.Lys10fs)	rs770037766
NM_005609.4(PYGM):c.2259dup (p.Lys754fs)	rs1565531453
NM_005609.4(PYGM):c.2262del (p.Lys754fs)	rs398124210
NM_005609.4(PYGM):c.2363_2366del (p.Val788fs)	rs1565531128
NM_005609.4(PYGM):c.2379+2_2379+3delinsAT	rs2135823216
NM_005609.4(PYGM):c.2380-1G>A	rs1555133248
NM_005609.4(PYGM):c.2392T>A (p.Trp798Arg)	rs119103258
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.260_261del (p.Ser87fs)	rs757762109
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg)	rs780246932
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp)	rs367990192
NM_005609.4(PYGM):c.425-2A>G	rs752851284
NM_005609.4(PYGM):c.501dup (p.Asn168Ter)	rs1555136390
NM_005609.4(PYGM):c.506AGA[1] (p.Lys170del)	rs764823441
NM_005609.4(PYGM):c.580del (p.Arg194fs)	rs2496668596
NM_005609.4(PYGM):c.658C>T (p.Gln220Ter)	rs753533515
NM_005609.4(PYGM):c.658_659del (p.Gln220fs)	rs766199191
NM_005609.4(PYGM):c.682del (p.Asp228fs)	rs2058388882
NM_005677.4(COLQ):c.1129del (p.Asp377fs)	rs1559511788
NM_005677.4(COLQ):c.1225dup (p.His409fs)	rs1559510978
NM_005677.4(COLQ):c.220-1G>A	rs199470447
NM_005677.4(COLQ):c.379C>T (p.Arg127Ter)	rs143766249
NM_005677.4(COLQ):c.54_57del (p.Ile20fs)	rs771879602
NM_005677.4(COLQ):c.955-2A>C	rs1172409117
NM_005732.4(RAD50):c.1270_1271del (p.Leu424fs)	rs587781327
NM_005732.4(RAD50):c.1620_1621insAG (p.Leu541fs)	rs764968413
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter)	rs149201802
NM_005732.4(RAD50):c.2202del (p.Pro734_Met735insTer)	rs786201789
NM_005732.4(RAD50):c.2467C>T (p.Arg823Ter)	rs1060501936
NM_005732.4(RAD50):c.2789_2792del (p.Ile930fs)	rs587781930
NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs)	rs1060501941
NM_005732.4(RAD50):c.3209del (p.Asn1070fs)	rs786202187
NM_005732.4(RAD50):c.541dup (p.Ser181fs)	rs786201531
NM_005763.4(AASS):c.1767-1G>A	rs745643453
NM_005859.5(PURA):c.493G>A (p.Gly165Ser)	rs1561793272
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln)	rs1376334317
NM_005862.3(STAG1):c.418C>T (p.Arg140Ter)	rs1435519890
NM_005908.4(MANBA):c.177+2T>C	rs779221957
NM_005909.5(MAP1B):c.2995C>T (p.Arg999Ter)	rs2478574299
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile)	rs1555691402
NM_005957.5(MTHFR):c.233C>G (p.Ser78Ter)	rs776969786
NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs)	rs483352911
NM_005993.5(TBCD):c.1126G>A (p.Val376Met)	rs183349235
NM_006005.3(WFS1):c.2643_2644del (p.Phe883fs)	rs863224268
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs)	rs797045076
NM_006009.4(TUBA1A):c.509C>G (p.Ser170Cys)	rs2498861047
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His)	rs1057517843
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His)	rs886043627
NM_006015.6(ARID1A):c.98_107del (p.Glu33fs)	rs2124740134
NM_006016.6(CD164):c.574C>T (p.Arg192Ter)	rs876661402
NM_006019.4(TCIRG1):c.117+4A>C	rs751881962
NM_006019.4(TCIRG1):c.117+4A>T	rs751881962
NM_006019.4(TCIRG1):c.1554+1G>T	rs1439348400
NM_006019.4(TCIRG1):c.1555-2A>C	rs758977199
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter)	rs1855655612
NM_006019.4(TCIRG1):c.1891del (p.Val631fs)	rs1300297240
NM_006019.4(TCIRG1):c.196+1G>T	rs2134432498
NM_006019.4(TCIRG1):c.2161_2163del (p.Ile721del)	rs780311417
NM_006019.4(TCIRG1):c.2218_2219del (p.Leu740fs)	rs1565164499
NM_006019.4(TCIRG1):c.2376_2379del (p.Glu792fs)	rs1189520104
NM_006019.4(TCIRG1):c.242del (p.Pro81fs)	rs1208311085
NM_006019.4(TCIRG1):c.418-21A>G	rs1855249165
NM_006019.4(TCIRG1):c.480dup (p.Pro161fs)	rs1554995341
NM_006019.4(TCIRG1):c.504-6C>A	rs1028394725
NM_006086.4(TUBB3):c.689C>T (p.Ser230Leu)	rs886041459
NM_006086.4(TUBB3):c.785G>A (p.Arg262His)	rs864321716
NM_006086.4(TUBB3):c.982G>A (p.Glu328Lys)	rs1057518686
NM_006087.4(TUBB4A):c.1164G>C (p.Met388Ile)	rs797045074
NM_006088.6(TUBB4B):c.1072C>T (p.Pro358Ser)	rs2131435194
NM_006096.4(NDRG1):c.944-1G>T	rs1588216753
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg)	rs587776932
NM_006231.4(POLE):c.1135C>T (p.His379Tyr)	rs2542159094
NM_006231.4(POLE):c.2090C>A (p.Pro697His)	rs36120395
NM_006231.4(POLE):c.983A>T (p.Tyr328Phe)	rs1339375099
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)	rs863225082
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro)	rs1762136390
NM_006261.5(PROP1):c.109+1G>T	rs1214465435
NM_006261.5(PROP1):c.112_124del (p.Ser38fs)	rs587776682
NM_006261.5(PROP1):c.301_302del (p.Leu102fs)	rs193922688
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_006267.5(RANBP2):c.1966A>G (p.Ile656Val)	rs121434504
NM_006267.5(RANBP2):c.3363G>T (p.Lys1121Asn)	rs112835359
NM_006280.3(SSR4):c.417+1G>A	rs1057518735
NM_006295.3(VARS1):c.1341G>T (p.Met447Ile)	rs1581645904
NM_006306.4(SMC1A):c.3103C>T (p.Arg1035Ter)	rs1556886124
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys)	rs587784422
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.808_823del (p.Gly270fs)	rs386833983
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.924_925del (p.Leu309fs)	rs386833964
NM_006493.4(CLN5):c.936del (p.Phe312fs)	rs386833966
NM_006493.4(CLN5):c.956_959del (p.Lys319fs)	rs386833967
NM_006493.4(CLN5):c.990G>A (p.Trp330Ter)	rs386833968
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)	rs80359818
NM_006580.4(CLDN16):c.2T>C (p.Met1Thr)	rs104893724
NM_006767.4(LZTR1):c.1149+1G>A	rs767191322
NM_006767.4(LZTR1):c.1353+1G>T	rs1170363408
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln)	rs370638947
NM_006772.3(SYNGAP1):c.1898T>C (p.Leu633Pro)	rs1761021165
NM_006772.3(SYNGAP1):c.2206C>T (p.Arg736Cys)	rs1202720979
NM_006772.3(SYNGAP1):c.265C>G (p.Pro89Ala)	rs1776944236
NM_006772.3(SYNGAP1):c.3635C>T (p.Ser1212Phe)	rs1761209473
NM_006772.3(SYNGAP1):c.4003G>A (p.Gly1335Ser)	rs1761351808
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter)	rs1057518352
NM_006785.4(MALT1):c.1401-15G>T	rs371051170
NM_006859.4(LIAS):c.76A>G (p.Arg26Gly)	rs773069554
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr)	rs869025191
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)	rs1057518801
NM_006940.6(SOX5):c.1411C>T (p.Arg471Ter)	rs1592099852
NM_006949.4(STXBP2):c.1138G>T (p.Glu380Ter)	rs772141641
NM_006949.4(STXBP2):c.1525C>T (p.Gln509Ter)	rs760061071
NM_006949.4(STXBP2):c.1586G>A (p.Arg529Gln)	rs35490401
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)	rs61736587
NM_006949.4(STXBP2):c.474_483delinsGA (p.Cys158fs)	rs1599397070
NM_006949.4(STXBP2):c.87+2T>C	rs1599389041
NM_006950.3(SYN1):c.1647_1650dup (p.Ser551fs)	rs1456167867
NM_007055.4(POLR3A):c.1771-7C>G	rs201314157
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln)	rs879255626
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser)	rs1747669042
NM_007194.4(CHEK2):c.1046dup (p.Pro350fs)	rs2145817185
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs)	rs2052563898
NM_007194.4(CHEK2):c.1126G>T (p.Gly376Ter)	rs2145806157
NM_007194.4(CHEK2):c.1147A>G (p.Thr383Ala)	rs769439021
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys)	rs200928781
NM_007194.4(CHEK2):c.1209_1233del (p.Tyr404fs)	rs1555913672
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)	rs371418985
NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer)	rs765664259
NM_007194.4(CHEK2):c.1259+1G>C	rs121908707
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs)	rs1569112324
NM_007194.4(CHEK2):c.1290dup (p.Arg431Ter)	rs771772104
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter)	rs778989252
NM_007194.4(CHEK2):c.1452del (p.Trp485fs)	rs2145784297
NM_007194.4(CHEK2):c.1455G>A (p.Trp485Ter)	rs1601715852
NM_007194.4(CHEK2):c.1461+5G>A	rs769841229
NM_007194.4(CHEK2):c.1462-2A>G	rs587782575
NM_007194.4(CHEK2):c.14_20del (p.Ser5fs)	rs757016287
NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs)	rs587782707
NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter)	rs587782489
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)	rs200432447
NM_007194.4(CHEK2):c.1556G>A (p.Arg519Gln)	rs587780180
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter)	rs768384031
NM_007194.4(CHEK2):c.247del (p.Gln83fs)	rs587782766
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter)	rs1349961118
NM_007194.4(CHEK2):c.320-1G>T	rs864622613
NM_007194.4(CHEK2):c.432del (p.Arg145fs)	rs1555927148
NM_007194.4(CHEK2):c.444+1del	rs1064793780
NM_007194.4(CHEK2):c.444+2T>C	rs560596101
NM_007194.4(CHEK2):c.449del (p.Val150fs)	rs1601824270
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)	rs587782008
NM_007194.4(CHEK2):c.580A>T (p.Ser194Cys)	rs786203042
NM_007194.4(CHEK2):c.591del (p.Val198fs)	rs587782245
NM_007194.4(CHEK2):c.593-1G>C	rs786203229
NM_007194.4(CHEK2):c.606dup (p.Asp203Ter)	rs886039609
NM_007194.4(CHEK2):c.616_617del (p.Val206fs)	rs1346554630
NM_007194.4(CHEK2):c.625C>T (p.Gln209Ter)	rs1569149953
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs)	rs750616657
NM_007194.4(CHEK2):c.683+1G>T	rs786203650
NM_007194.4(CHEK2):c.684-2A>G	rs2053419665
NM_007194.4(CHEK2):c.696dup (p.Glu233fs)	rs1601784008
NM_007194.4(CHEK2):c.697G>T (p.Glu233Ter)	rs753972711
NM_007194.4(CHEK2):c.700_712del (p.Val234fs)	rs2517962830
NM_007194.4(CHEK2):c.726_727del (p.Thr242_Cys243insTer)	rs1392940377
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter)	rs786201896
NM_007194.4(CHEK2):c.793-1G>A	rs730881687
NM_007194.4(CHEK2):c.793-1G>T	rs730881687
NM_007194.4(CHEK2):c.823del (p.Glu275fs)	rs769430546
NM_007194.4(CHEK2):c.846+1G>T	rs864622149
NM_007194.4(CHEK2):c.846+4_846+7del	rs764884641
NM_007194.4(CHEK2):c.865A>T (p.Lys289Ter)	rs2517886828
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter)	rs886039739
NM_007194.4(CHEK2):c.906del (p.Glu302fs)	rs2052974883
NM_007194.4(CHEK2):c.908+5G>A	rs1064796016
NM_007194.4(CHEK2):c.919_920del (p.Gly307fs)	rs786203053
NM_007194.4(CHEK2):c.919_920dup (p.Leu309fs)	rs786203053
NM_007255.3(B4GALT7):c.277dup (p.His93fs)	rs879255634
NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys)	rs80356880
NM_007294.4(BRCA1):c.115T>A (p.Cys39Ser)	rs80357164
NM_007294.4(BRCA1):c.121C>T (p.His41Tyr)	rs1060502353
NM_007294.4(BRCA1):c.122A>G (p.His41Arg)	rs80357276
NM_007294.4(BRCA1):c.122A>T (p.His41Leu)	rs80357276
NM_007294.4(BRCA1):c.1293_1295delinsGA (p.Leu432fs)	rs397508852
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.134+3A>C	rs80358064
NM_007294.4(BRCA1):c.139dup (p.Cys47fs)	rs80357734
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe)	rs80357150
NM_007294.4(BRCA1):c.1505_1509del (p.Leu502fs)	rs876659139
NM_007294.4(BRCA1):c.154C>A (p.Leu52Ile)	rs80357084
NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg)	rs28897672
NM_007294.4(BRCA1):c.182G>A (p.Cys61Tyr)	rs80357093
NM_007294.4(BRCA1):c.189A>T (p.Leu63Phe)	rs80356956
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg)	rs80357064
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)	rs55851803
NM_007294.4(BRCA1):c.1923dup (p.Asp642Ter)	rs878854935
NM_007294.4(BRCA1):c.1978del (p.Val660fs)	rs886039988
NM_007294.4(BRCA1):c.2043dup (p.Asn682Ter)	rs863224510
NM_007294.4(BRCA1):c.2061_2064del (p.Thr688fs)	rs1597872420
NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter)	rs80357298
NM_007294.4(BRCA1):c.216C>A (p.Ser72Arg)	rs80356967
NM_007294.4(BRCA1):c.2331_2332dup (p.Gly778fs)	rs431825390
NM_007294.4(BRCA1):c.2346dup (p.Ile783fs)	rs886040027
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs)	rs80357596
NM_007294.4(BRCA1):c.2816T>C (p.Val939Ala)	rs1555588894
NM_007294.4(BRCA1):c.2912_2913del (p.His971fs)	rs878854940
NM_007294.4(BRCA1):c.2960_2964del (p.Lys987fs)	rs1555588625
NM_007294.4(BRCA1):c.301+1G>A	rs587782173
NM_007294.4(BRCA1):c.301+2dup	rs273899694
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs)	rs80357635
NM_007294.4(BRCA1):c.3342_3345del (p.Glu1114_Glu1115insTer)	rs397509058
NM_007294.4(BRCA1):c.346del (p.Glu116fs)	rs762635795
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)	rs80357868
NM_007294.4(BRCA1):c.3853del (p.Ser1286fs)	rs397507222
NM_007294.4(BRCA1):c.3895C>T (p.Gln1299Ter)	rs80357038
NM_007294.4(BRCA1):c.395A>G (p.Asn132Ser)	rs1597896639
NM_007294.4(BRCA1):c.403A>T (p.Lys135Ter)	rs879255485
NM_007294.4(BRCA1):c.4055A>T (p.Glu1352Val)	rs879254228
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)	rs80357508
NM_007294.4(BRCA1):c.4096+3A>G	rs80358015
NM_007294.4(BRCA1):c.4132G>T (p.Val1378Phe)	rs28897690
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer)	rs80357572
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)	rs80357260
NM_007294.4(BRCA1):c.4184A>G (p.Gln1395Arg)	rs80356972
NM_007294.4(BRCA1):c.4386dup (p.Tyr1463fs)	rs786204267
NM_007294.4(BRCA1):c.4484+1G>A	rs80358063
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)	rs80357389
NM_007294.4(BRCA1):c.4485-2A>G	rs80358054
NM_007294.4(BRCA1):c.4733A>G (p.Asp1578Gly)	rs80356930
NM_007294.4(BRCA1):c.4821del (p.Ala1608fs)	rs2153836342
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)	rs80356862
NM_007294.4(BRCA1):c.4942A>G (p.Lys1648Glu)	rs747694453
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.5014CAC[1] (p.His1673del)	rs80358343
NM_007294.4(BRCA1):c.5036T>C (p.Leu1679Pro)	rs760038328
NM_007294.4(BRCA1):c.5054_5057dup (p.Val1687fs)	rs879254050
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del)	rs80358344
NM_007294.4(BRCA1):c.5072C>A (p.Thr1691Lys)	rs80357034
NM_007294.4(BRCA1):c.5074+2T>C	rs80358089
NM_007294.4(BRCA1):c.5074+3A>G	rs80358181
NM_007294.4(BRCA1):c.5075-1G>A	rs1800747
NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del)	rs80358345
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg)	rs80356993
NM_007294.4(BRCA1):c.5096G>C (p.Arg1699Pro)	rs41293459
NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys)	rs876660071
NM_007294.4(BRCA1):c.5125G>A (p.Gly1709Arg)	rs886038197
NM_007294.4(BRCA1):c.5141T>G (p.Val1714Gly)	rs80357243
NM_007294.4(BRCA1):c.5145C>G (p.Ser1715Arg)	rs80357094
NM_007294.4(BRCA1):c.5150del (p.Phe1717fs)	rs80357720
NM_007294.4(BRCA1):c.5152+4A>G	rs397509232
NM_007294.4(BRCA1):c.5153-1G>C	rs80358137
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys)	rs80357239
NM_007294.4(BRCA1):c.5155G>T (p.Val1719Leu)	rs749465132
NM_007294.4(BRCA1):c.5161C>G (p.Gln1721Glu)	rs878854957
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)	rs80357104
NM_007294.4(BRCA1):c.5191G>T (p.Glu1731Ter)	rs397507244
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg)	rs80356937
NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu)	rs80357450
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly)	rs80357227
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp)	rs397509243
NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro)	rs80357281
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser)	rs80357463
NM_007294.4(BRCA1):c.5302del (p.Cys1768fs)	rs886040289
NM_007294.4(BRCA1):c.5309G>C (p.Gly1770Ala)	rs863224765
NM_007294.4(BRCA1):c.5310_5311del (p.Pro1771fs)	rs587781825
NM_007294.4(BRCA1):c.5333-2A>T	rs397509264
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro)	rs398122697
NM_007294.4(BRCA1):c.5407-10G>A	rs273901767
NM_007294.4(BRCA1):c.5407G>T (p.Gly1803Cys)	rs876659510
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter)	rs397509283
NM_007294.4(BRCA1):c.5432A>G (p.Gln1811Arg)	rs80357040
NM_007294.4(BRCA1):c.547+1G>A	rs80358030
NM_007294.4(BRCA1):c.5470A>G (p.Ile1824Val)	rs587782026
NM_007294.4(BRCA1):c.5473G>A (p.Gly1825Arg)	rs398122700
NM_007294.4(BRCA1):c.5502_5503dup (p.Arg1835fs)	rs397509291
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)	rs80356959
NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly)	rs80356959
NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser)	rs398122702
NM_007294.4(BRCA1):c.5541C>A (p.Cys1847Ter)	rs397509295
NM_007294.4(BRCA1):c.5556_5560del (p.Tyr1853fs)	rs886040305
NM_007294.4(BRCA1):c.5565_5573del (p.Gln1857_Pro1859del)	rs397507253
NM_007294.4(BRCA1):c.5578dup (p.His1860fs)	rs397507254
NM_007294.4(BRCA1):c.60A>C (p.Lys20Asn)	rs202168814
NM_007294.4(BRCA1):c.626del (p.Pro209fs)	rs886040920
NM_007294.4(BRCA1):c.685del (p.Ser229fs)	rs80357824
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg)	rs80357410
NM_007294.4(BRCA1):c.715del (p.His239fs)	rs879255294
NM_007294.4(BRCA1):c.71G>A (p.Cys24Tyr)	rs80357198
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs)	rs80357724
NM_007294.4(BRCA1):c.81-9C>G	rs80358127
NM_007294.4(BRCA1):c.869T>A (p.Leu290Ter)	rs730881468
NM_007294.4(BRCA1):c.9A>T (p.Leu3Phe)	rs780157871
NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg)	rs797045047
NM_012062.5(DNM1L):c.1048G>A (p.Gly350Arg)	rs879255689
NM_012123.4(MTO1):c.1391G>T (p.Arg464Leu)	rs141970072
NM_012203.2(GRHPR):c.337G>T (p.Glu113Ter)	rs180177307
NM_012203.2(GRHPR):c.404+3_404+6del	rs180177309
NM_012203.2(GRHPR):c.493+2T>A	rs180177313
NM_012203.2(GRHPR):c.83+1G>C	rs1822898131
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.934A>G (p.Asn312Asp)	rs180177324
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg)	rs119491110
NM_012434.5(SLC17A5):c.1121del (p.Gly374fs)	rs1057517119
NM_012434.5(SLC17A5):c.294_310del	rs1192927951
NM_012434.5(SLC17A5):c.409del (p.Met137fs)	rs794729653
NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter)	rs1769021763
NM_012434.5(SLC17A5):c.699del (p.Phe233fs)	rs779548058
NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter)	rs755923873
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)	rs386833994
NM_012434.5(SLC17A5):c.905del (p.Asn302fs)	rs771156053
NM_012434.5(SLC17A5):c.979-1G>T	rs2533429751
NM_012434.5(SLC17A5):c.998del (p.Leu333fs)	rs779494716
NM_012448.4(STAT5B):c.1924A>C (p.Asn642His)	rs938448224
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys)	rs1554616628
NM_013245.3(VPS4A):c.83C>T (p.Ala28Val)	rs1965431981
NM_013254.4(TBK1):c.1153G>T (p.Glu385Ter)	rs765106259
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs)	rs886039734
NM_013275.6(ANKRD11):c.376G>C (p.Glu126Gln)	rs1276607391
NM_013275.6(ANKRD11):c.87+13C>T	rs201730053
NM_013339.4(ALG6):c.1006_1007del (p.Phe336fs)	rs1644562014
NM_013339.4(ALG6):c.1018del (p.Ser340fs)	rs1269984067
NM_013339.4(ALG6):c.1136del (p.Pro379fs)	rs1553156884
NM_013339.4(ALG6):c.114T>G (p.Tyr38Ter)	rs1648831627
NM_013339.4(ALG6):c.1167del (p.Ser390fs)	rs769698652
NM_013339.4(ALG6):c.1194dup (p.Ile399fs)	rs1207096732
NM_013339.4(ALG6):c.1246_1250del (p.Leu416fs)	rs1644631895
NM_013339.4(ALG6):c.1326+1G>A	rs1475789647
NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter)	rs1553157428
NM_013339.4(ALG6):c.146_147del (p.Thr48_Phe49insTer)	rs756566938
NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter)	rs780528545
NM_013339.4(ALG6):c.428del (p.Lys143fs)	rs1471326272
NM_013339.4(ALG6):c.506_507del (p.Val169fs)	rs1274913587
NM_013339.4(ALG6):c.634dup (p.Cys212fs)	rs879133727
NM_013339.4(ALG6):c.658A>T (p.Lys220Ter)	rs1644514822
NM_013339.4(ALG6):c.684del (p.Phe228fs)	rs2100421533
NM_013339.4(ALG6):c.796_799dup (p.Asp267delinsGlyTer)	rs2100421727
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del)	rs387906338
NM_013339.4(ALG6):c.920T>A (p.Leu307Ter)	rs1644543791
NM_013339.4(ALG6):c.988-1G>A	rs781473515
NM_013382.7(POMT2):c.1333-14G>A	rs918556979
NM_013382.7(POMT2):c.1786-2A>T	rs1257697617
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter)	rs1452558347
NM_013386.5(SLC25A24):c.649C>T (p.Arg217Cys)	rs1553253990
NM_014009.4(FOXP3):c.970T>C (p.Phe324Leu)	rs122467173
NM_014023.4(WDR37):c.344C>T (p.Thr115Ile)	rs1833994284
NM_014049.5(ACAD9):c.1240C>A (p.Arg414Ser)	rs777282696
NM_014049.5(ACAD9):c.1249C>T (p.Arg417Cys)	rs368949613
NM_014049.5(ACAD9):c.1359-1G>A	rs2529278964
NM_014049.5(ACAD9):c.1429C>T (p.Arg477Ter)	rs866688232
NM_014049.5(ACAD9):c.151-1_151del	rs766026673
NM_014049.5(ACAD9):c.1563+1G>A	rs1936041020
NM_014049.5(ACAD9):c.359del (p.Phe120fs)	rs863224844
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro)	rs115532916
NM_014055.4(IFT81):c.1717-2A>G	rs1868517084
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)	rs1057523157
NM_014225.6(PPP2R1A):c.547C>T (p.Arg183Trp)	rs1057519946
NM_014225.6(PPP2R1A):c.775G>A (p.Val259Ile)	rs2089688265
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)	rs1555582065
NM_014236.4(GNPAT):c.1483del (p.Leu494_Val495insTer)	rs749069446
NM_014249.4(NR2E3):c.1220T>A (p.Met407Lys)	rs1303613101
NM_014249.4(NR2E3):c.194_202del (p.Asn65_Cys67del)	rs1555454566
NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu)	rs377257254
NM_014249.4(NR2E3):c.767C>T (p.Ala256Val)	rs377257254
NM_014249.4(NR2E3):c.925C>G (p.Arg309Gly)	rs774102273
NM_014249.4(NR2E3):c.951del (p.Thr318fs)	rs11351249
NM_014251.3(SLC25A13):c.229G>T (p.Glu77Ter)	rs1254503252
NM_014252.4(SLC25A15):c.212T>A (p.Leu71Gln)	rs121908534
NM_014252.4(SLC25A15):c.236C>G (p.Ser79Ter)	rs2138045987
NM_014252.4(SLC25A15):c.265C>T (p.Gln89Ter)	rs2546917744
NM_014252.4(SLC25A15):c.326del (p.Asn109fs)	rs2546920755
NM_014252.4(SLC25A15):c.337G>T (p.Gly113Cys)	rs199894905
NM_014252.4(SLC25A15):c.408del (p.Met137fs)	rs780201405
NM_014252.4(SLC25A15):c.498del (p.Leu167fs)	rs2138056689
NM_014252.4(SLC25A15):c.553TTC[3] (p.Phe188del)	rs202247803
NM_014252.4(SLC25A15):c.564C>G (p.Phe188Leu)	rs141028076
NM_014252.4(SLC25A15):c.622+1G>A	rs957788324
NM_014252.4(SLC25A15):c.755_756insA (p.Phe253fs)	rs2546922700
NM_014297.5(ETHE1):c.131_132del (p.Glu44fs)	rs761827730
NM_014297.5(ETHE1):c.43C>T (p.Gln15Ter)	rs2146021370
NM_014297.5(ETHE1):c.596-1G>A	rs1487930609
NM_014297.5(ETHE1):c.702_703del (p.Gln235fs)	rs2513603665
NM_014297.5(ETHE1):c.79C>A (p.Gln27Lys)	rs749803238
NM_014324.6(AMACR):c.109C>A (p.Pro37Thr)	rs199734111
NM_014334.4(FRRS1L):c.584_586del (p.Gly195del)	rs878853282
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val)	rs1114167288
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs)	rs786204416
NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs)	rs779338945
NM_014363.6(SACS):c.11012_11013del (p.Gln3671fs)	rs1883576381
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.12835_12836del (p.Leu4279fs)	rs1555249425
NM_014363.6(SACS):c.12839del (p.Phe4280fs)	rs1197238841
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.2182C>T (p.Arg728Ter)	rs752059006
NM_014363.6(SACS):c.2881C>T (p.Arg961Ter)	rs1593133395
NM_014363.6(SACS):c.3328dup (p.Ile1110fs)	rs770866403
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)	rs144267558
NM_014363.6(SACS):c.3484G>T (p.Glu1162Ter)	rs1246013998
NM_014363.6(SACS):c.382_383del (p.Glu128fs)	rs757179309
NM_014363.6(SACS):c.429_430del (p.Trp144fs)	rs1555255328
NM_014363.6(SACS):c.470_471del (p.Tyr157fs)	rs1444216187
NM_014363.6(SACS):c.4954C>T (p.Gln1652Ter)	rs2542273834
NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs)	rs1566067485
NM_014363.6(SACS):c.6186dup (p.Pro2063fs)	rs2137611917
NM_014363.6(SACS):c.699del (p.Asp235fs)	rs1415870785
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs)	rs1555251539
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)	rs786204750
NM_014363.6(SACS):c.7962T>A (p.Tyr2654Ter)	rs777875035
NM_014363.6(SACS):c.815G>A (p.Arg272His)	rs745907077
NM_014363.6(SACS):c.8239dup (p.Ile2747fs)	rs779248938
NM_014363.6(SACS):c.826C>T (p.Arg276Cys)	rs1438645077
NM_014363.6(SACS):c.8793del (p.Lys2931fs)	rs767871841
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)	rs767871841
NM_014625.4(NPHS2):c.115C>T (p.Gln39Ter)	rs869312746
NM_014625.4(NPHS2):c.353C>T (p.Pro118Leu)	rs869025495
NM_014625.4(NPHS2):c.378+1_378+2delinsTG	rs2125790074
NM_014625.4(NPHS2):c.452del	rs1250670041
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.855_856del (p.Arg286fs)	rs749740335
NM_014625.4(NPHS2):c.862G>A (p.Ala288Thr)	rs1490010141
NM_014625.4(NPHS2):c.883G>A (p.Ala295Thr)	rs1673264509
NM_014625.4(NPHS2):c.928G>A (p.Glu310Lys)	rs1673254835
NM_014625.4(NPHS2):c.964C>T (p.Arg322Ter)	rs763818901
NM_014625.4(NPHS2):c.965G>A (p.Arg322Gln)	rs776859868
NM_014795.4(ZEB2):c.2707G>T (p.Ala903Ser)	rs730881200
NM_014795.4(ZEB2):c.917G>A (p.Gly306Asp)	rs1703292916
NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln)	rs186003800
NM_014946.4(SPAST):c.1276C>T (p.Leu426Phe)	rs1060502227
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)	rs878854991
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs)	rs797045067
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu)	rs80358242
NM_015166.4(MLC1):c.177+1del	rs2518369951
NM_015166.4(MLC1):c.324del (p.Asn110fs)	rs786204747
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer)	rs267607236
NM_015166.4(MLC1):c.597+1G>A	rs1569248367
NM_015166.4(MLC1):c.824C>A (p.Ala275Asp)	rs764669598
NM_015166.4(MLC1):c.849del (p.Ile283_Met284insTer)	rs2518488079
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys)	rs281875313
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp)	rs1554504681
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)	rs1565909334
NM_015294.6(TRIM37):c.1894_1895del (p.Glu632fs)	rs386834002
NM_015294.6(TRIM37):c.2056C>T (p.Arg686Ter)	rs386834003
NM_015294.6(TRIM37):c.2377_2378del (p.Leu793fs)	rs2544996719
NM_015294.6(TRIM37):c.370-1G>A	rs1285784670
NM_015294.6(TRIM37):c.586C>T (p.Gln196Ter)	rs1568191596
NM_015294.6(TRIM37):c.838_842del (p.Thr280fs)	rs386834007
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs)	rs750318549
NM_015338.6(ASXL1):c.3700C>T (p.Gln1234Ter)	rs1569337452
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs)	rs281865473
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro)	rs756980496
NM_015506.3(MMACHC):c.178dup (p.Asp60fs)	rs1570829757
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro)	rs201777449
NM_015506.3(MMACHC):c.276G>A (p.Glu92=)	rs556977618
NM_015506.3(MMACHC):c.285dup (p.Glu96fs)	rs1553162821
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter)	rs759188647
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr)	rs574983400
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)	rs121918240
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)	rs796051998
NM_015506.3(MMACHC):c.435_436del (p.Ser146fs)	rs2149323799
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)	rs140522266
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs)	rs796051999
NM_015506.3(MMACHC):c.452A>G (p.His151Arg)	rs764409631
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.481C>G (p.Arg161Gly)	rs370596113
NM_015506.3(MMACHC):c.497dup (p.Pro167fs)	rs1481893137
NM_015506.3(MMACHC):c.506_507del (p.Ile169fs)	rs2149323855
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs)	rs1553162923
NM_015506.3(MMACHC):c.542_545dup (p.Cys182Ter)	rs2522827461
NM_015506.3(MMACHC):c.551_554dup (p.Arg186fs)	rs1553162934
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)	rs200895671
NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys)	rs200895671
NM_015506.3(MMACHC):c.565del (p.Arg189fs)	rs1257204721
NM_015506.3(MMACHC):c.578T>C (p.Leu193Pro)	rs1233135084
NM_015506.3(MMACHC):c.614dup (p.Tyr205Ter)	rs1383465849
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro)	rs371753672
NM_015506.3(MMACHC):c.619dup (p.Asp207fs)	rs765913293
NM_015506.3(MMACHC):c.626_627del (p.Val209fs)	rs1356587420
NM_015506.3(MMACHC):c.728del (p.Pro243fs)	rs1409915649
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del)	rs796064513
NM_015506.3(MMACHC):c.82-11_82-8del	rs751236442
NM_015506.3(MMACHC):c.82-1G>A	rs1255179780
NM_015506.3(MMACHC):c.89G>A (p.Trp30Ter)	rs1570829502
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter)	rs771673343
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1])	rs1789934246
NM_015610.4(WIPI2):c.724C>T (p.Arg242Trp)	rs1783201574
NM_015702.3(MMADHC):c.128_129del (p.His43fs)	rs1162948308
NM_015702.3(MMADHC):c.663G>A (p.Trp221Ter)	rs2105042238
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly)	rs1408840913
NM_015713.5(RRM2B):c.662A>G (p.Asn221Ser)	rs863224193
NM_015721.3(GEMIN4):c.2452T>C (p.Trp818Arg)	rs730882219
NM_015836.4(WARS2):c.797del (p.Pro266fs)	rs746478253
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg)	rs1131692228
NM_016219.5(MAN1B1):c.1765-20G>C	rs1225685090
NM_016222.4(DDX41):c.1088_1090del (p.Ser363del)	rs1234975047
NM_016222.4(DDX41):c.1105C>G (p.Arg369Gly)	rs747672157
NM_016222.4(DDX41):c.232_233insAA (p.Pro78fs)	rs1554111683
NM_016222.4(DDX41):c.847del (p.Leu283fs)	rs1761145210
NM_016263.4(FZR1):c.1126G>A (p.Gly376Ser)	rs2083259164
NM_016302.4(CRBN):c.1171T>C (p.Cys391Arg)	rs797045036
NM_016363.5(GP6):c.356_360del (p.Gln119fs)	rs760074158
NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter)	rs1566306570
NM_016532.4(INPP5K):c.302T>C (p.Phe101Ser)	rs2075263105
NM_017617.5(NOTCH1):c.2153A>G (p.Asn718Ser)	rs1843232044
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter)	rs184469579
NM_017739.4(POMGNT1):c.1604+2T>C	rs1553162872
NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn)	rs193919335
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro)	rs267606962
NM_017739.4(POMGNT1):c.1876del (p.Val626fs)	rs386834022
NM_017739.4(POMGNT1):c.652+1G>A	rs386834035
NM_017739.4(POMGNT1):c.880-1G>A	rs1317832573
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter)	rs1377452635
NM_017763.6(RNF43):c.1976dup (p.Pro660fs)	rs755128667
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)	rs386834044
NM_017780.4(CHD7):c.2239-16T>A	rs2487672040
NM_017780.4(CHD7):c.5607+1G>A	rs1554603672
NM_017827.4(SARS2):c.176A>C (p.Asp59Ala)	rs145163692
NM_017849.4(TMEM127):c.117_120del (p.Ile41fs)	rs121908816
NM_017849.4(TMEM127):c.265_268del (p.Thr89fs)	rs121908822
NM_017882.3(CLN6):c.437T>C (p.Leu146Pro)	rs1595818249
NM_017882.3(CLN6):c.723G>T (p.Met241Ile)	rs149262877
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser)	rs115079861
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)	rs542489955
NM_017951.5(SMPD4):c.784_785del (p.Leu262fs)	rs2467253753
NM_018026.4(PACS1):c.661-15T>A	rs1565150720
NM_018055.5(NODAL):c.2T>C (p.Met1Thr)	rs2493096439
NM_018055.5(NODAL):c.700_723delinsTTGACTTCC (p.Arg234_Pro241delinsLeuThrSer)	rs2132214841
NM_018062.4(FANCL):c.375-2033C>G	rs1690571577
NM_018136.5(ASPM):c.9286C>T (p.Arg3096Ter)	rs774143329
NM_018196.4(TMLHE):c.961_962del (p.Ile321fs)	rs782624357
NM_018238.4(AGK):c.424-3C>G	rs766413410
NM_018255.4(ELP2):c.293dup (p.Leu98fs)	rs529659464
NM_018297.4(NGLY1):c.1764_1785del (p.Asp588fs)	rs2125442722
NM_018718.3(CEP41):c.34-2A>G	rs1797714974
NM_019042.5(PUS7):c.398+1G>T	rs1264890888
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln)	rs886039764
NM_020066.5(FMN2):c.1550del (p.Pro517fs)	rs1390970926
NM_020158.4(EXOSC5):c.302C>A (p.Thr101Lys)	rs777418116
NM_020166.5(MCCC1):c.1074del (p.Trp358fs)	rs398124350
NM_020166.5(MCCC1):c.1129_1130del (p.Leu377fs)	rs1714102462
NM_020166.5(MCCC1):c.1257_1263del (p.Val420fs)	rs1560224024
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs)	rs762463137
NM_020166.5(MCCC1):c.1378-2A>G	rs2530130369
NM_020166.5(MCCC1):c.1518del (p.Glu506fs)	rs2530128064
NM_020166.5(MCCC1):c.1522_1544del (p.Leu508fs)	rs1713693597
NM_020166.5(MCCC1):c.1541dup (p.Leu515fs)	rs1331457189
NM_020166.5(MCCC1):c.1630del (p.Arg544fs)	rs1243671468
NM_020166.5(MCCC1):c.1663_1664dup (p.Lys556fs)	rs2530101552
NM_020166.5(MCCC1):c.171_172del (p.Gly58fs)	rs1311374961
NM_020166.5(MCCC1):c.1792del (p.Tyr597_Leu598insTer)	rs2108441513
NM_020166.5(MCCC1):c.1864del (p.Ser622fs)	rs1712230544
NM_020166.5(MCCC1):c.1908C>G (p.Tyr636Ter)	rs1311139055
NM_020166.5(MCCC1):c.2088dup (p.Val697fs)	rs746267545
NM_020166.5(MCCC1):c.2123dup (p.His708fs)	rs1404350628
NM_020166.5(MCCC1):c.227_228del (p.Val76fs)	rs1718431677
NM_020166.5(MCCC1):c.310C>T (p.Gln104Ter)	rs1177891822
NM_020166.5(MCCC1):c.435del (p.Gly146fs)	rs1486240538
NM_020166.5(MCCC1):c.534_535delinsTT (p.Glu179Ter)	rs2108526606
NM_020166.5(MCCC1):c.622del (p.Arg208fs)	rs2530362767
NM_020166.5(MCCC1):c.635del (p.Gly212fs)	rs2108526355
NM_020166.5(MCCC1):c.676G>T (p.Glu226Ter)	rs1553862845
NM_020320.5(RARS2):c.-2A>G	rs201150141
NM_020320.5(RARS2):c.1055dup (p.His353fs)	rs756696262
NM_020320.5(RARS2):c.110+5A>G	rs63749985
NM_020320.5(RARS2):c.1390C>T (p.Gln464Ter)	rs753312969
NM_020320.5(RARS2):c.1612del (p.Thr538fs)	rs781417096
NM_020320.5(RARS2):c.1A>G (p.Met1Val)	rs774923951
NM_020320.5(RARS2):c.282_285del (p.Arg94fs)	rs767056243
NM_020320.5(RARS2):c.42del (p.Arg15fs)	rs777942571
NM_020320.5(RARS2):c.474_477del (p.Glu159fs)	rs774755297
NM_020320.5(RARS2):c.963_964del (p.Tyr322fs)	rs773838753
NM_020533.3(MCOLN1):c.1453_1463dup (p.Ser488fs)	rs797044823
NM_020533.3(MCOLN1):c.680+1G>A	rs1599254152
NM_020533.3(MCOLN1):c.785T>C (p.Phe262Ser)	rs2022599557
NM_020549.5(CHAT):c.1007T>C (p.Ile336Thr)	rs121912823
NM_020549.5(CHAT):c.1359_1363del (p.Cys453_Glu455delinsTer)	rs2538860938
NM_020549.5(CHAT):c.1387C>T (p.Gln463Ter)	rs1296550963
NM_020549.5(CHAT):c.1441dup (p.Arg481fs)	rs773268576
NM_020549.5(CHAT):c.1663G>T (p.Glu555Ter)	rs757303526
NM_020549.5(CHAT):c.1715C>G (p.Ser572Trp)	rs753652169
NM_020549.5(CHAT):c.1850_1851del (p.Gly617fs)	rs1207652491
NM_020549.5(CHAT):c.451C>T (p.Arg151Ter)	rs777679246
NM_020549.5(CHAT):c.472C>T (p.Gln158Ter)	rs1838635016
NM_020549.5(CHAT):c.593G>A (p.Trp198Ter)	rs2496323700
NM_020549.5(CHAT):c.59_60del (p.Glu20fs)	rs531450737
NM_020686.6(ABAT):c.22C>T (p.Gln8Ter)	rs1355739310
NM_020779.4(WDR35):c.3058C>T (p.His1020Tyr)	rs1553316264
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)	rs397515404
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His)	rs200694691
NM_020829.4(RIC1):c.3794G>C (p.Arg1265Pro)	rs763515150
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter)	rs1568133760
NM_020964.3(EPG5):c.721C>T (p.Arg241Ter)	rs372940918
NM_020975.6(RET):c.1998G>C (p.Lys666Asn)	rs146646971
NM_020988.3(GNAO1):c.724-8G>A	rs1085307876
NM_021008.4(DEAF1):c.634G>A (p.Gly212Ser)	rs1057519565
NM_021008.4(DEAF1):c.676C>T (p.Arg226Trp)	rs587777623
NM_021008.4(DEAF1):c.700T>A (p.Trp234Arg)	rs1057524157
NM_021008.4(DEAF1):c.737G>C (p.Arg246Thr)	rs1554944271
NM_021008.4(DEAF1):c.791A>C (p.Gln264Pro)	rs587777407
NM_021008.4(DEAF1):c.910AAG[1] (p.Lys305del)	rs1554943158
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)	rs267607144
NM_021922.3(FANCE):c.100C>T (p.Gln34Ter)	rs1324357775
NM_021922.3(FANCE):c.1096del (p.Ser366fs)	rs1272613429
NM_021922.3(FANCE):c.118del (p.Ala40fs)	rs2533646556
NM_021922.3(FANCE):c.1237+1G>A	rs1767499634
NM_021922.3(FANCE):c.1239dup (p.Pro414fs)	rs1561792535
NM_021922.3(FANCE):c.1363del (p.Gln455fs)	rs1767552099
NM_021922.3(FANCE):c.1510-1G>A	rs772678337
NM_021922.3(FANCE):c.248+1G>A	rs1480350743
NM_021922.3(FANCE):c.339del (p.Leu114fs)	rs2533657776
NM_021922.3(FANCE):c.350_351del (p.Val117fs)	rs748337315
NM_021922.3(FANCE):c.524dup (p.Arg176fs)	rs773363446
NM_021922.3(FANCE):c.538del (p.Ser180fs)	rs747113644
NM_021922.3(FANCE):c.769_772dup (p.Ala258fs)	rs2533661699
NM_021922.3(FANCE):c.929del (p.Pro310fs)	rs587778337
NM_021922.3(FANCE):c.929dup (p.Val311fs)	rs587778337
NM_021942.6(TRAPPC11):c.1568-1G>T	rs1180079162
NM_021942.6(TRAPPC11):c.518_521del (p.Phe173fs)	rs771717941
NM_022041.4(GAN):c.1268T>C (p.Ile423Thr)	rs119485091
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter)	rs369053765
NM_022081.6(HPS4):c.148C>T (p.Gln50Ter)	rs372020804
NM_022081.6(HPS4):c.2054del (p.Pro685fs)	rs2146241760
NM_022081.6(HPS4):c.47del (p.Asn16fs)	rs763190774
NM_022095.4(ZNF335):c.2744_2747del (p.Ser915fs)	rs753460205
NM_022095.4(ZNF335):c.715GTG[3] (p.Val242del)	rs759141702
NM_022124.6(CDH23):c.5712+1G>A	rs397517341
NM_022132.5(MCCC2):c.1081C>T (p.Arg361Ter)	rs763293192
NM_022132.5(MCCC2):c.1103del (p.Gly368fs)	rs756218448
NM_022132.5(MCCC2):c.1149+1G>A	rs2112460011
NM_022132.5(MCCC2):c.1149+1G>T	rs2112460011
NM_022132.5(MCCC2):c.1208A>C (p.Asn403Thr)	rs142887940
NM_022132.5(MCCC2):c.1216+2T>A	rs1554138265
NM_022132.5(MCCC2):c.127C>T (p.Gln43Ter)	rs2112251855
NM_022132.5(MCCC2):c.1580G>A (p.Trp527Ter)	rs761700756
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter)	rs768272570
NM_022132.5(MCCC2):c.181G>T (p.Glu61Ter)	rs752593298
NM_022132.5(MCCC2):c.190A>T (p.Lys64Ter)	rs796051989
NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter)	rs147903984
NM_022132.5(MCCC2):c.351_353del (p.Gly118del)	rs758794885
NM_022132.5(MCCC2):c.384-2A>G	rs1745476784
NM_022132.5(MCCC2):c.581del (p.Thr194fs)	rs1190325113
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr)	rs886043524
NM_022132.5(MCCC2):c.689del (p.Asn230fs)	rs2112412398
NM_022132.5(MCCC2):c.739-2A>G	rs2112427637
NM_022132.5(MCCC2):c.739del	rs1463802125
NM_022132.5(MCCC2):c.760G>T (p.Glu254Ter)	rs2530820915
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg)	rs119103221
NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg)	rs1443551700
NM_022168.4(IFIH1):c.1015G>A (p.Ala339Thr)	rs1314541924
NM_022489.4(INF2):c.658G>A (p.Glu220Lys)	rs530391015
NM_022725.4(FANCF):c.193C>T (p.Gln65Ter)	rs753272712
NM_022725.4(FANCF):c.604del (p.Phe201_Leu202insTer)	rs1479457172
NM_023110.3(FGFR1):c.1880G>C (p.Arg627Thr)	rs869025671
NM_023110.3(FGFR1):c.1981C>T (p.Arg661Ter)	rs776264072
NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln)	rs1040187200
NM_024301.5(FKRP):c.953G>A (p.Cys318Tyr)	rs104894684
NM_024312.5(GNPTAB):c.1959_1960del (p.Pro655fs)	rs1429181351
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.1570_1572del (p.Asn524del)	rs863224782
NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter)	rs1434577015
NM_024649.5(BBS1):c.223_224del (p.Leu75fs)	rs1057516451
NM_024649.5(BBS1):c.480-1G>C	rs1057516933
NM_024649.5(BBS1):c.831-3C>G	rs113994179
NM_024649.5(BBS1):c.951+58C>T	rs1856346961
NM_024649.5(BBS1):c.981del (p.Ala328fs)	rs1057516371
NM_024665.7(TBL1XR1):c.974G>A (p.Cys325Tyr)	rs1553810255
NM_024675.4(PALB2):c.101G>T (p.Arg34Leu)	rs144944814
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter)	rs375699023
NM_024675.4(PALB2):c.109-12T>A	rs774949203
NM_024675.4(PALB2):c.109C>T (p.Arg37Cys)	rs200048921
NM_024675.4(PALB2):c.1114dup (p.Ser372fs)	rs1060499815
NM_024675.4(PALB2):c.1117del (p.Glu373fs)	rs2506488340
NM_024675.4(PALB2):c.1179del (p.Lys393fs)	rs1567221417
NM_024675.4(PALB2):c.1421G>A (p.Ser474Asn)	rs786201806
NM_024675.4(PALB2):c.1434_1435del (p.Gln479fs)	rs2506477651
NM_024675.4(PALB2):c.1437_1438del (p.Lys480fs)	rs1555461280
NM_024675.4(PALB2):c.1478C>T (p.Pro493Leu)	rs770965402
NM_024675.4(PALB2):c.1485del (p.Asp496fs)	rs1555461256
NM_024675.4(PALB2):c.1490del (p.Asn497fs)	rs1555461253
NM_024675.4(PALB2):c.1610C>A (p.Ser537Ter)	rs142103232
NM_024675.4(PALB2):c.1641_1669del (p.Ser548fs)	rs2506469663
NM_024675.4(PALB2):c.1677del (p.Gln559_Val560insTer)	rs515726073
NM_024675.4(PALB2):c.1709_1710del (p.Glu570fs)	rs1597091425
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter)	rs730881876
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)	rs180177143
NM_024675.4(PALB2):c.1748T>G (p.Leu583Trp)	rs587782151
NM_024675.4(PALB2):c.1784del (p.Asp595fs)	rs2142389365
NM_024675.4(PALB2):c.1804C>T (p.Gln602Ter)	rs876660475
NM_024675.4(PALB2):c.18G>T (p.Gly6=)	rs587782462
NM_024675.4(PALB2):c.1918T>G (p.Ser640Ala)	rs876659058
NM_024675.4(PALB2):c.1924del (p.Met642fs)	rs730881865
NM_024675.4(PALB2):c.1969_1981dup (p.Pro661fs)	rs1966862408
NM_024675.4(PALB2):c.2020_2021del (p.Asp674fs)	rs2142383242
NM_024675.4(PALB2):c.2109_2112del (p.Leu703fs)	rs2142380816
NM_024675.4(PALB2):c.212-2A>C	rs730881879
NM_024675.4(PALB2):c.2148T>A (p.Asn716Lys)	rs770145849
NM_024675.4(PALB2):c.223A>T (p.Lys75Ter)	rs1555461875
NM_024675.4(PALB2):c.224_228del (p.Lys75fs)	rs1064795640
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.228_229del (p.Ile76fs)	rs1555461870
NM_024675.4(PALB2):c.2298dup (p.Val767fs)	rs1555460407
NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter)	rs1060502748
NM_024675.4(PALB2):c.2389C>T (p.Gln797Ter)	rs1060502768
NM_024675.4(PALB2):c.2405del (p.Cys802fs)	rs1966856604
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs)	rs747148023
NM_024675.4(PALB2):c.2463delinsAA (p.Asn821fs)	rs2506404426
NM_024675.4(PALB2):c.2470del (p.Cys824fs)	rs876658348
NM_024675.4(PALB2):c.2507_2509del (p.Val836del)	rs587782697
NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter)	rs750650768
NM_024675.4(PALB2):c.2559C>T (p.Gly853=)	rs180177115
NM_024675.4(PALB2):c.2566C>T (p.Gln856Ter)	rs770996884
NM_024675.4(PALB2):c.2575del (p.Ser859fs)	rs2142367858
NM_024675.4(PALB2):c.261dup (p.Leu88fs)	rs2506518601
NM_024675.4(PALB2):c.2634_2635del (p.Arg879fs)	rs876660643
NM_024675.4(PALB2):c.2712G>A (p.Trp904Ter)	rs587781457
NM_024675.4(PALB2):c.2736G>A (p.Trp912Ter)	rs1555459925
NM_024675.4(PALB2):c.2748+1G>A	rs753153576
NM_024675.4(PALB2):c.2748+1G>T	rs753153576
NM_024675.4(PALB2):c.2834+2T>A	rs864622481
NM_024675.4(PALB2):c.2835-1G>C	rs515726099
NM_024675.4(PALB2):c.2866G>T (p.Glu956Ter)	rs1219715328
NM_024675.4(PALB2):c.2938del (p.Ser980fs)	rs1555459540
NM_024675.4(PALB2):c.2962_2963del (p.Gln988fs)	rs1555459528
NM_024675.4(PALB2):c.2974_2975dup (p.Met992fs)	rs1555459520
NM_024675.4(PALB2):c.2982dup (p.Ala995fs)	rs180177127
NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter)	rs786203775
NM_024675.4(PALB2):c.3004_3008del (p.Glu1002fs)	rs2506320815
NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer)	rs886039683
NM_024675.4(PALB2):c.3062_3063dup (p.Met1022fs)	rs1597079711
NM_024675.4(PALB2):c.3074dup (p.Leu1026fs)	rs2506318271
NM_024675.4(PALB2):c.3114-1G>A	rs886039619
NM_024675.4(PALB2):c.3116del (p.Asn1039fs)	rs180177133
NM_024675.4(PALB2):c.3124dup (p.Thr1042fs)	rs1555458828
NM_024675.4(PALB2):c.3180T>A (p.Cys1060Ter)	rs2142298948
NM_024675.4(PALB2):c.3201+1G>C	rs587776423
NM_024675.4(PALB2):c.3201G>A (p.Met1067Ile)	rs1555458809
NM_024675.4(PALB2):c.3202-1G>A	rs515726111
NM_024675.4(PALB2):c.3202-1G>C	rs515726111
NM_024675.4(PALB2):c.3202-2A>G	rs1060499827
NM_024675.4(PALB2):c.3297_3298insT (p.Thr1100fs)	rs1567206823
NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter)	rs1218512317
NM_024675.4(PALB2):c.3350+1G>A	rs864622192
NM_024675.4(PALB2):c.3350+4A>G	rs180177136
NM_024675.4(PALB2):c.3362del (p.Gly1121fs)	rs515726117
NM_024675.4(PALB2):c.3469C>T (p.Gln1157Ter)	rs1597062038
NM_024675.4(PALB2):c.3477G>A (p.Trp1159Ter)	rs1597061983
NM_024675.4(PALB2):c.3491G>A (p.Trp1164Ter)	rs879254113
NM_024675.4(PALB2):c.3494C>A (p.Ser1165Ter)	rs773829275
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)	rs587776428
NM_024675.4(PALB2):c.373C>T (p.Gln125Ter)	rs2142444897
NM_024675.4(PALB2):c.49-2A>G	rs786203245
NM_024675.4(PALB2):c.500_513del (p.Asp167fs)	rs876660719
NM_024675.4(PALB2):c.532G>T (p.Glu178Ter)	rs1597098960
NM_024675.4(PALB2):c.538_539delinsTAGTTCCTTT (p.Glu180Ter)	rs1597098943
NM_024675.4(PALB2):c.625del (p.Ser209fs)	rs1597098739
NM_024675.4(PALB2):c.703dup (p.Thr235fs)	rs1967027806
NM_024675.4(PALB2):c.885_886insG (p.Met296fs)	rs1597097936
NM_024675.4(PALB2):c.931A>T (p.Lys311Ter)	rs1060499831
NM_024675.4(PALB2):c.93dup (p.Leu32fs)	rs864622498
NM_024675.4(PALB2):c.953_954del (p.Ser318fs)	rs1060502800
NM_024685.4(BBS10):c.1091del (p.Asn364fs)	rs727503818
NM_024685.4(BBS10):c.1315del (p.Gln439fs)	rs1592491950
NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter)	rs759682922
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>A (p.Tyr559Ter)	rs375413604
NM_024685.4(BBS10):c.1677C>G (p.Tyr559Ter)	rs375413604
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter)	rs1565809409
NM_024685.4(BBS10):c.1871C>G (p.Ser624Ter)	rs768385647
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.306_309del (p.Asp102fs)	rs745497072
NM_024685.4(BBS10):c.445dup (p.Leu149fs)	rs770053320
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter)	rs863224522
NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys)	rs756632517
NM_024685.4(BBS10):c.646dup (p.Asp216fs)	rs1555202695
NM_024685.4(BBS10):c.728_731del (p.Lys243fs)	rs786204671
NM_024685.4(BBS10):c.784_785del (p.Glu262fs)	rs1555202681
NM_024685.4(BBS10):c.84C>A (p.Cys28Ter)	rs1476664656
NM_024685.4(BBS10):c.909_912del (p.Ser303fs)	rs780059308
NM_024685.4(BBS10):c.959_962del (p.Ser320fs)	rs758522600
NM_024685.4(BBS10):c.962A>G (p.Tyr321Cys)	rs771325212
NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs)	rs2136091654
NM_024740.2(ALG9):c.125G>C (p.Arg42Pro)	rs781880611
NM_024757.5(EHMT1):c.3853G>C (p.Gly1285Arg)	rs758900811
NM_024757.5(EHMT1):c.756dup (p.Phe253fs)	rs1554852664
NM_024996.7(GFM1):c.1765-2A>G	rs2108102423
NM_024996.7(GFM1):c.193C>T (p.Arg65Ter)	rs62286651
NM_024996.7(GFM1):c.817dup (p.Ile273fs)	rs1722355988
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter)	rs775517752
NM_025193.4(HSD3B7):c.499G>T (p.Glu167Ter)	rs560826820
NM_025215.6(PUS1):c.813del (p.Phe272fs)	rs1566148136
NM_030632.3(ASXL3):c.3349C>T (p.Arg1117Ter)	rs868044680
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter)	rs1555744282
NM_031206.7(LAS1L):c.1243C>T (p.Arg415Trp)	rs1057518699
NM_031844.3(HNRNPU):c.1780_1781del (p.Cys594fs)	rs2527505699
NM_031844.3(HNRNPU):c.651_660del (p.Gly218fs)	rs779453109
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)	rs193922710
NM_031885.5(BBS2):c.1486_1489del (p.Ile496fs)	rs1363846772
NM_031885.5(BBS2):c.471+1G>A	rs1555523584
NM_031885.5(BBS2):c.612+1G>A	rs1964531402
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_031924.8(RSPH3):c.-207TG[1]	rs757935663
NM_032040.5(CCDC8):c.803_807delinsT (p.Lys268fs)	rs1973237748
NM_032043.3(BRIP1):c.103G>T (p.Gly35Ter)	rs373104267
NM_032043.3(BRIP1):c.1072_1087del (p.Leu358fs)	rs1567831649
NM_032043.3(BRIP1):c.128dup (p.Leu43fs)	rs2545472874
NM_032043.3(BRIP1):c.1360G>T (p.Glu454Ter)	rs1555605955
NM_032043.3(BRIP1):c.141del (p.Thr48fs)	rs587782065
NM_032043.3(BRIP1):c.1495C>T (p.Gln499Ter)	rs1060501739
NM_032043.3(BRIP1):c.1543del (p.Glu515fs)	rs1064793812
NM_032043.3(BRIP1):c.1770del (p.Trp592fs)	rs2145091141
NM_032043.3(BRIP1):c.1794+1G>A	rs766516963
NM_032043.3(BRIP1):c.180_190del (p.Leu61fs)	rs2545471484
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs)	rs587781985
NM_032043.3(BRIP1):c.1889del (p.Thr630fs)	rs1064793626
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys)	rs786202760
NM_032043.3(BRIP1):c.1970del (p.Gly657fs)	rs760782298
NM_032043.3(BRIP1):c.2103del (p.Glu702fs)	rs2144701568
NM_032043.3(BRIP1):c.210del (p.Lys70fs)	rs1555617925
NM_032043.3(BRIP1):c.2143_2163delinsTTCT (p.His715fs)	rs2544837995
NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter)	rs1257401983
NM_032043.3(BRIP1):c.2398_2400delinsATTTG	rs1555580957
NM_032043.3(BRIP1):c.2400C>A (p.Tyr800Ter)	rs574552037
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)	rs574552037
NM_032043.3(BRIP1):c.2414C>A (p.Ser805Ter)	rs2061855838
NM_032043.3(BRIP1):c.243del (p.Val82fs)	rs1064794890
NM_032043.3(BRIP1):c.292_293del (p.Asn97_Asn98insTer)	rs2145828926
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)	rs771028677
NM_032043.3(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs)	rs763443434
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys)	rs542698396
NM_032043.3(BRIP1):c.438_440delinsCT (p.Tyr147fs)	rs786203429
NM_032043.3(BRIP1):c.441_445delinsA (p.Tyr147_Asp149delinsTer)	rs2545420396
NM_032043.3(BRIP1):c.462dup (p.Gln155fs)	rs1567868477
NM_032043.3(BRIP1):c.46del (p.Tyr16fs)	rs876660613
NM_032043.3(BRIP1):c.507+1G>T	rs2145761239
NM_032043.3(BRIP1):c.616del (p.Ser206fs)	rs1603361558
NM_032043.3(BRIP1):c.627dup (p.Pro210fs)	rs1392582030
NM_032043.3(BRIP1):c.646del (p.Arg216fs)	rs1603347042
NM_032043.3(BRIP1):c.68dup (p.Ser24fs)	rs1555618716
NM_032043.3(BRIP1):c.734_740dup (p.Tyr247Ter)	rs1603346857
NM_032043.3(BRIP1):c.93+1G>T	rs587782047
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg)	rs1060499795
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln)	rs1331463984
NM_032383.5(HPS3):c.1555_1595dup (p.Ala532_Leu533insPheThrPheSerValArgLeuIleCysTer)	rs756611897
NM_032383.5(HPS3):c.1778G>A (p.Trp593Ter)	rs1723609962
NM_032383.5(HPS3):c.248dup (p.Asn83fs)	rs1336214631
NM_032383.5(HPS3):c.2589+1G>C	rs281865095
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs)	rs1277509410
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp)	rs137976282
NM_032536.4(NTNG2):c.858-13G>A	rs1840794100
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter)	rs556752387
NM_032634.4(PIGO):c.1810dup (p.Arg604fs)	rs774508288
NM_032634.4(PIGO):c.2191dup (p.Arg731fs)	rs760848629
NM_033028.5(BBS4):c.1180C>T (p.Gln394Ter)	rs2543012369
NM_033028.5(BBS4):c.1318_1321del (p.Val440fs)	rs1281334523
NM_033028.5(BBS4):c.332+2_332+3insTT	rs753360929
NM_033028.5(BBS4):c.341del (p.Leu114fs)	rs750258633
NM_033028.5(BBS4):c.864+1G>C	rs2151047618
NM_033360.4(KRAS):c.194G>T (p.Ser65Ile)	rs1555194026
NM_033380.3(COL4A5):c.4016-1G>A	rs797045035
NM_033380.3(COL4A5):c.4283G>A (p.Arg1428His)	rs2068539626
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr)	rs759541820
NM_052845.4(MMAB):c.290G>A (p.Gly97Glu)	rs864309511
NM_052845.4(MMAB):c.349-1G>C	rs864309510
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter)	rs557884699
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup)	rs1555274496
NM_052845.4(MMAB):c.574_577del (p.Ala192fs)	rs747499304
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp)	rs1060505041
NM_053274.3(GLMN):c.157_161del (p.Glu52_Lys53insTer)	rs762515373
NM_054012.4(ASS1):c.1166C>T (p.Thr389Ile)	rs1474017319
NM_054012.4(ASS1):c.350G>A (p.Gly117Asp)	rs745404241
NM_054012.4(ASS1):c.364-2A>C	rs774231051
NM_054012.4(ASS1):c.412C>T (p.Gln138Ter)	rs1057516339
NM_054012.4(ASS1):c.421-2A>C	rs751930594
NM_054012.4(ASS1):c.450_451del (p.Phe150fs)	rs786204648
NM_054012.4(ASS1):c.460_467del (p.Phe154fs)	rs1004492719
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn)	rs121908638
NM_054012.4(ASS1):c.773+1G>A	rs982830431
NM_054012.4(ASS1):c.774-2A>G	rs1588496214
NM_054012.4(ASS1):c.846C>A (p.Tyr282Ter)	rs549085827
NM_054012.4(ASS1):c.931C>T (p.Gln311Ter)	rs1301613270
NM_054012.4(ASS1):c.951del (p.Phe317fs)	rs775791516
NM_054012.4(ASS1):c.971G>T (p.Gly324Val)	rs1554725034
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro)	rs886041401
NM_058216.3(RAD51C):c.1018C>T (p.Gln340Ter)	rs1555605103
NM_058216.3(RAD51C):c.1026+5_1026+7del	rs587781410
NM_058216.3(RAD51C):c.145+1G>T	rs757128712
NM_058216.3(RAD51C):c.224_225dup (p.Ala76fs)	rs1598455598
NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter)	rs1555593616
NM_058216.3(RAD51C):c.335G>C (p.Gly112Ala)	rs370212314
NM_058216.3(RAD51C):c.395C>G (p.Thr132Arg)	rs730881930
NM_058216.3(RAD51C):c.397C>A (p.Gln133Lys)	rs387907159
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter)	rs387907159
NM_058216.3(RAD51C):c.399dup (p.Leu134fs)	rs2509276440
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr)	rs767796996
NM_058216.3(RAD51C):c.447_448delinsT (p.Gly150fs)	rs1598460178
NM_058216.3(RAD51C):c.448G>A (p.Gly150Arg)	rs553112850
NM_058216.3(RAD51C):c.472dup (p.Ile158fs)	rs2143746162
NM_058216.3(RAD51C):c.519dup (p.Thr174fs)	rs1598460710
NM_058216.3(RAD51C):c.535del (p.His179fs)	rs1555594864
NM_058216.3(RAD51C):c.572-1G>C	rs1413872299
NM_058216.3(RAD51C):c.724G>A (p.Asp242Asn)	rs876659188
NM_058216.3(RAD51C):c.80T>C (p.Leu27Pro)	rs587781309
NM_058216.3(RAD51C):c.851_854dup (p.Met286fs)	rs1060502605
NM_058216.3(RAD51C):c.860del (p.Thr287fs)	rs2143930383
NM_058216.3(RAD51C):c.934C>G (p.Arg312Gly)	rs730881932
NM_058216.3(RAD51C):c.93del (p.Phe32fs)	rs730881942
NM_058216.3(RAD51C):c.965+5G>A	rs774586107
NM_058216.3(RAD51C):c.968T>G (p.Leu323Trp)	rs587782045
NM_078480.3(PUF60):c.1381-2A>G	rs1057518681
NM_130839.5(UBE3A):c.1802CTT[1] (p.Ser602del)	rs587781234
NM_130839.5(UBE3A):c.2124+19T>G	rs587782925
NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu)	rs587781239
NM_130839.5(UBE3A):c.2563_2566dup (p.Lys856delinsThrTer)	rs398124440
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)	rs587784527
NM_130839.5(UBE3A):c.377C>A (p.Thr126Lys)	rs587781241
NM_130839.5(UBE3A):c.62+20G>A	rs587782906
NM_130839.5(UBE3A):c.63-19_63-17del	rs587782921
NM_133171.5(ELMO2):c.1802-1G>C	rs886037918
NM_133259.4(LRPPRC):c.1431T>G (p.Tyr477Ter)	rs746627889
NM_133259.4(LRPPRC):c.4077C>G (p.Tyr1359Ter)	rs148828179
NM_133433.4(NIPBL):c.5709+1G>A	rs587783979
NM_133433.4(NIPBL):c.7175G>A (p.Cys2392Tyr)	rs886042231
NM_138295.5(PKD1L1):c.6473+2_6473+3del	rs528302390
NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys)	rs888230251
NM_138615.3(DHX30):c.2353C>T (p.Arg785Cys)	rs1085307451
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.10315G>T (p.Asp3439Tyr)	rs778711731
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs)	rs752889346
NM_138694.4(PKHD1):c.10856del (p.Lys3619fs)	rs1554183235
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs)	rs1562040783
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.11074C>T (p.Arg3692Ter)	rs769559267
NM_138694.4(PKHD1):c.11212_11213del (p.Ile3738fs)	rs1554176517
NM_138694.4(PKHD1):c.11776del (p.Val3926fs)	rs1057517324
NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter)	rs1554229312
NM_138694.4(PKHD1):c.1233+1G>A	rs886061623
NM_138694.4(PKHD1):c.1284G>A (p.Trp428Ter)	rs2533373615
NM_138694.4(PKHD1):c.1338del (p.Leu447fs)	rs1582013246
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.1602+1G>A	rs398124476
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.2269A>C (p.Ile757Leu)	rs777183511
NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter)	rs398124480
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)	rs370277502
NM_138694.4(PKHD1):c.3229-2A>C	rs1057516872
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)	rs746972457
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)	rs1057517273
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg)	rs1464962854
NM_138694.4(PKHD1):c.4660dup (p.Tyr1554fs)	rs1801949246
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala)	rs267601070
NM_138694.4(PKHD1):c.5353T>C (p.Phe1785Leu)	rs781740739
NM_138694.4(PKHD1):c.5751+1G>A	rs775638588
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.6116T>C (p.Leu2039Pro)	rs777228780
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.7994T>C (p.Leu2665Pro)	rs1314759488
NM_138694.4(PKHD1):c.8302+2T>C	rs2151510946
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu)	rs375145340
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter)	rs398124498
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter)	rs1582053820
NM_138694.4(PKHD1):c.930del (p.Thr311fs)	rs398124501
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr)	rs1554218666
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs)	rs797045101
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)	rs146649803
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu)	rs146649803
NM_138694.4(PKHD1):c.9727del (p.Ile3243fs)	rs1562221540
NM_138694.4(PKHD1):c.9830-2A>G	rs890681861
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter)	rs757099749
NM_138927.4(SON):c.286C>T (p.Gln96Ter)	rs886039777
NM_138927.4(SON):c.3852_3856del (p.Met1284fs)	rs1114167303
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)	rs886039773
NM_139242.4(MTFMT):c.374C>T (p.Ser125Leu)	rs397514614
NM_144992.5(VWA3B):c.1191T>G (p.Tyr397Ter)	rs546662496
NM_144997.7(FLCN):c.1085G>T (p.Arg362Leu)	rs559055296
NM_144997.7(FLCN):c.127G>T (p.Glu43Ter)	rs1555611494
NM_144997.7(FLCN):c.1280C>A (p.Pro427His)	rs766218250
NM_144997.7(FLCN):c.1283C>A (p.Pro428His)	rs199889477
NM_144997.7(FLCN):c.134C>T (p.Ala45Val)	rs556510460
NM_144997.7(FLCN):c.176G>T (p.Arg59Leu)	rs374969279
NM_144997.7(FLCN):c.250-2A>G	rs398124533
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del)	rs786203218
NM_144997.7(FLCN):c.871+132G>T	rs1460258176
NM_145054.5(CFAP52):c.1304del (p.Gly435fs)	rs1360832162
NM_145167.3(PIGM):c.538A>T (p.Lys180Ter)	rs779628172
NM_145239.3(PRRT2):c.649del (p.Arg217fs)	rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)	rs587778771
NM_145868.2(ANXA11):c.118G>T (p.Asp40Tyr)	rs368751524
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)	rs1064797245
NM_152296.5(ATP1A3):c.829G>A (p.Glu277Lys)	rs80356533
NM_152383.5(DIS3L2):c.1087A>G (p.Ile363Val)	rs540563766
NM_152383.5(DIS3L2):c.2302del (p.Leu768fs)	rs1559220022
NM_152383.5(DIS3L2):c.325dup (p.Asp109fs)	rs1441475659
NM_152383.5(DIS3L2):c.645del (p.Cys216fs)	rs1328362747
NM_152383.5(DIS3L2):c.733C>T (p.Arg245Ter)	rs199648534
NM_152384.3(BBS5):c.303dup (p.Asn102Ter)	rs1683515617
NM_152393.4(KLHL40):c.703G>T (p.Glu235Ter)	rs768335581
NM_152443.3(RDH12):c.146C>A (p.Thr49Lys)	rs28940314
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp)	rs368489658
NM_152443.3(RDH12):c.377C>A (p.Ala126Glu)	rs202126574
NM_152443.3(RDH12):c.488del (p.Lys163fs)	rs2038193754
NM_152443.3(RDH12):c.505C>G (p.Arg169Gly)	rs761167763
NM_152443.3(RDH12):c.609C>A (p.Ser203Arg)	rs753959716
NM_152443.3(RDH12):c.617C>T (p.Ala206Val)	rs1254096311
NM_152443.3(RDH12):c.63_66del (p.Ile22fs)	rs794729650
NM_152443.3(RDH12):c.659-2A>T	rs2038231425
NM_152443.3(RDH12):c.698_699delinsAA (p.Val233Glu)	rs2038232911
NM_152443.3(RDH12):c.715C>T (p.Arg239Trp)	rs751589863
NM_152443.3(RDH12):c.779dup (p.Ala262fs)	rs2503833321
NM_152443.3(RDH12):c.812_813del (p.Ala271fs)	rs2140151036
NM_152443.3(RDH12):c.848+2T>C	rs878853338
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter)	rs200387832
NM_152618.3(BBS12):c.1082del (p.Gly361fs)	rs1057517193
NM_152618.3(BBS12):c.1372dup (p.Thr458fs)	rs1195341481
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)	rs752762669
NM_152618.3(BBS12):c.1616G>A (p.Gly539Asp)	rs755314355
NM_152618.3(BBS12):c.1663_1667del (p.Glu555fs)	rs2150737598
NM_152618.3(BBS12):c.172G>T (p.Glu58Ter)	rs759455327
NM_152618.3(BBS12):c.1733C>A (p.Ser578Ter)	rs1800931751
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs)	rs1560708847
NM_152618.3(BBS12):c.1993GTT[1] (p.Val666del)	rs779685329
NM_152618.3(BBS12):c.265_266del (p.Leu89fs)	rs1397714772
NM_152618.3(BBS12):c.270del (p.Val92fs)	rs1173504533
NM_153006.3(NAGS):c.1097-2A>G	rs2049106256
NM_153006.3(NAGS):c.1228T>C (p.Ser410Pro)	rs2509283438
NM_153006.3(NAGS):c.1289T>C (p.Leu430Pro)	rs104894605
NM_153006.3(NAGS):c.1323C>G (p.Tyr441Ter)	rs886042831
NM_153006.3(NAGS):c.310del (p.Arg104fs)	rs2509277864
NM_153006.3(NAGS):c.569G>A (p.Trp190Ter)	rs2049079486
NM_153006.3(NAGS):c.570G>A (p.Trp190Ter)	rs755257734
NM_153006.3(NAGS):c.654dup (p.Gly219fs)	rs1256337877
NM_153006.3(NAGS):c.872T>A (p.Ile291Asn)	rs2509280602
NM_153006.3(NAGS):c.916-2A>T	rs730880267
NM_153218.4(LACC1):c.850T>C (p.Cys284Arg)	rs730880295
NM_153676.4(USH1C):c.388-1G>A	rs1364331716
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)	rs764397417
NM_170606.3(KMT2C):c.10054C>G (p.Gln3352Glu)	rs2092568887
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)	rs121912496
NM_170784.3(MKKS):c.175C>T (p.Gln59Ter)	rs1334961999
NM_170784.3(MKKS):c.515_516del (p.Glu172fs)	rs2064904675
NM_170784.3(MKKS):c.732_733del (p.Phe244fs)	rs2514496005
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys)	rs796052623
NM_172250.3(MMAA):c.1098G>A (p.Trp366Ter)	rs2546345912
NM_172250.3(MMAA):c.1114del (p.Gln372fs)	rs765726949
NM_172250.3(MMAA):c.298_312del (p.Cys100_Ala104del)	rs780082584
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.733+1G>T	rs779939886
NM_172250.3(MMAA):c.820-1G>A	rs1553959017
NM_172250.3(MMAA):c.820-1G>C	rs1553959017
NM_172250.3(MMAA):c.963_969+4del	rs2546344998
NM_173354.5(SIK1):c.468G>A (p.Leu156=)	rs2081056659
NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu)	rs118091316
NM_173630.4(RTTN):c.2885+8A>G	rs864321620
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)	rs606231128
NM_173660.5(DOK7):c.1263dup (p.Ser422fs)	rs606231129
NM_173660.5(DOK7):c.1378dup (p.Gln460fs)	rs606231133
NM_174878.3(CLRN1):c.502dup (p.Ile168fs)	rs746523071
NM_174916.3(UBR1):c.2261G>A (p.Arg754His)	rs1567131023
NM_176787.5(PIGN):c.1694G>T (p.Arg565Leu)	rs201835155
NM_176787.5(PIGN):c.1759C>T (p.Arg587Ter)	rs376226764
NM_176795.5(HRAS):c.488_497del (p.Leu163fs)	rs764755556
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer)	rs773139166
NM_176824.3(BBS7):c.1306-1_1308del	rs779436749
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del)	rs587777836
NM_176824.3(BBS7):c.389_390del (p.Asn130fs)	rs863224530
NM_177550.5(SLC13A5):c.1475T>C (p.Leu492Pro)	rs1057519449
NM_177550.5(SLC13A5):c.785T>C (p.Leu262Pro)	rs1973699059
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)	rs869312840
NM_177924.5(ASAH1):c.536C>T (p.Thr179Ile)	rs766257867
NM_178014.4(TUBB):c.860C>T (p.Pro287Leu)	rs1554202416
NM_178172.6(GPIHBP1):c.323C>G (p.Thr108Arg)	rs752728823
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp)	rs864321624
NM_181523.3(PIK3R1):c.1425+1G>A	rs587777709
NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg)	rs1064793391
NM_182894.3(VSX2):c.599G>C (p.Arg200Pro)	rs121912543
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser)	rs398124560
NM_183050.4(BCKDHB):c.1007dup (p.Phe337fs)	rs772386574
NM_183050.4(BCKDHB):c.101del (p.Gly34fs)	rs1277939715
NM_183050.4(BCKDHB):c.1037A>G (p.Gln346Arg)	rs2127965290
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr)	rs398124562
NM_183050.4(BCKDHB):c.1095_1096del (p.Pro366fs)	rs2483370839
NM_183050.4(BCKDHB):c.169C>T (p.Gln57Ter)	rs1554181192
NM_183050.4(BCKDHB):c.329_330delinsAA (p.Leu110Ter)	rs2127727924
NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter)	rs398124573
NM_183050.4(BCKDHB):c.352dup (p.Arg118fs)	rs1562102601
NM_183050.4(BCKDHB):c.392G>T (p.Gly131Val)	rs774472182
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg)	rs751953459
NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter)	rs1772735425
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.532G>T (p.Gly178Ter)	rs2481898824
NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp)	rs149766077
NM_183050.4(BCKDHB):c.57_64dup (p.His22fs)	rs1410520713
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer)	rs398124587
NM_183050.4(BCKDHB):c.612del (p.Phe204fs)	rs1210649507
NM_183050.4(BCKDHB):c.818C>T (p.Thr273Ile)	rs769886312
NM_183050.4(BCKDHB):c.843dup (p.His282fs)	rs1431407722
NM_183050.4(BCKDHB):c.885del (p.Gly296fs)	rs398124599
NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs)	rs398124601
NM_183050.4(BCKDHB):c.94del (p.Ala32fs)	rs2127698980
NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys)	rs1224101411
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu)	rs1554205541
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val)	rs397514513
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp)	rs864309483
NM_194454.3(KRIT1):c.146_147del (p.Arg49fs)	rs1057518665
NM_194454.3(KRIT1):c.1730+3A>C	rs1563244629
NM_198239.2(CCN6):c.233G>A (p.Cys78Tyr)	rs1562595388
NM_198239.2(CCN6):c.246del (p.Glu84fs)	rs797044438
NM_198253.3(TERT):c.1828C>T (p.Arg610Trp)	rs747940807
NM_198271.5(LMOD3):c.788T>C (p.Ile263Thr)	rs9835034
NM_198428.3(BBS9):c.1423G>T (p.Glu475Ter)	rs863224534
NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter)	rs746797123
NM_198428.3(BBS9):c.434del (p.Gly145fs)	rs1408974101
NM_198880.3(QRICH1):c.851C>T (p.Pro284Leu)	rs2093408453
NM_198904.4(GABRG2):c.269C>T (p.Thr90Met)	rs1057520498
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)	rs796052505
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)	rs62645754
NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg)	rs866822473
NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys)	rs1204363918
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)	rs150412614
NM_201253.3(CRB1):c.2234C>A (p.Thr745Lys)	rs28939720
NM_201253.3(CRB1):c.2505_2508del (p.Pro836fs)	rs778419716
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val)	rs369184026
NM_201253.3(CRB1):c.3299T>C (p.Ile1100Thr)	rs62635659
NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser)	rs2125506459
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu)	rs1667264651
NM_201253.3(CRB1):c.506del (p.Gly169fs)	rs1167867158
NM_201253.3(CRB1):c.653-1G>A	rs760287363
NM_201548.5(CERKL):c.1073+3_1073+6del	rs1553513437
NM_201548.5(CERKL):c.109C>T (p.Gln37Ter)	rs1414280804
NM_201548.5(CERKL):c.182T>A (p.Val61Glu)	rs1472885040
NM_201548.5(CERKL):c.237_238+13del	rs746128841
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser)	rs569826109
NM_201548.5(CERKL):c.316C>T (p.Arg106Cys)	rs569826109
NM_201548.5(CERKL):c.397_401del (p.Leu133fs)	rs1457373962
NM_201548.5(CERKL):c.450_451del (p.Ile150fs)	rs1574489337
NM_201548.5(CERKL):c.568del (p.Val190fs)	rs2468354552
NM_201548.5(CERKL):c.677+1G>A	rs1005130980
NM_205861.3(DHDDS):c.264_267del (p.Ser88fs)	rs2524516472
NM_205861.3(DHDDS):c.513G>A (p.Trp171Ter)	rs2075282065
NM_206926.2(SELENON):c.1285+1G>A	rs2047977957
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)	rs772808534
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs)	rs397517964
NM_206933.4(USH2A):c.10197C>A (p.Cys3399Ter)	rs1183957540
NM_206933.4(USH2A):c.10388-2A>G	rs1553261479
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)	rs111033379
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter)	rs111033418
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs)	rs1366496013
NM_206933.4(USH2A):c.11156G>T (p.Arg3719Leu)	rs527236139
NM_206933.4(USH2A):c.11328T>A (p.Tyr3776Ter)	rs749726310
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs)	rs779791079
NM_206933.4(USH2A):c.1190T>A (p.Ile397Lys)	rs2037684112
NM_206933.4(USH2A):c.12067-1G>C	rs397517977
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter)	rs988693758
NM_206933.4(USH2A):c.12300C>A (p.Tyr4100Ter)	rs1657997730
NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro)	rs577938494
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.13313G>A (p.Trp4438Ter)	rs111033417
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)	rs1553252388
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)	rs139474806
NM_206933.4(USH2A):c.13595_13596del (p.Pro4532fs)	rs1485393201
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter)	rs367674026
NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter)	rs397517989
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)	rs397517990
NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter)	rs1553250072
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter)	rs754834155
NM_206933.4(USH2A):c.14787del (p.Glu4930fs)	rs34713174
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)	rs1656419435
NM_206933.4(USH2A):c.1571C>T (p.Ala524Val)	rs772624410
NM_206933.4(USH2A):c.2293C>T (p.Gln765Ter)	rs777629750
NM_206933.4(USH2A):c.2779C>T (p.Gln927Ter)	rs1438734382
NM_206933.4(USH2A):c.3296_3297del (p.Thr1099fs)	rs748369458
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs)	rs397518013
NM_206933.4(USH2A):c.3558del (p.Cys1186fs)	rs397518014
NM_206933.4(USH2A):c.3589del (p.Ser1197fs)	rs1553313810
NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del)	rs1294733964
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter)	rs2034938852
NM_206933.4(USH2A):c.409dup (p.Ser137fs)	rs1571805164
NM_206933.4(USH2A):c.4251+1G>T	rs878853405
NM_206933.4(USH2A):c.486-1G>C	rs876657730
NM_206933.4(USH2A):c.490G>T (p.Val164Phe)	rs527236123
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)	rs397518021
NM_206933.4(USH2A):c.5857+1G>C	rs2031604509
NM_206933.4(USH2A):c.5858-1G>A	rs397518023
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.6601C>T (p.Gln2201Ter)	rs794727579
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)	rs1057518826
NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp)	rs727503723
NM_206933.4(USH2A):c.7493del (p.Ser2498fs)	rs1553274448
NM_206933.4(USH2A):c.7568G>A (p.Trp2523Ter)	rs1553274424
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)	rs1571783742
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs)	rs886041502
NM_206933.4(USH2A):c.8083A>T (p.Lys2695Ter)	rs775921966
NM_206933.4(USH2A):c.8240del (p.Pro2747fs)	rs1553272201
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter)	rs1553250952
NM_206933.4(USH2A):c.8906C>G (p.Ser2969Ter)	rs2464611968
NM_206933.4(USH2A):c.8917_8918del (p.Leu2973fs)	rs1553268582
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs)	rs536593247
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)	rs397518048
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)	rs1388040238
NM_206933.4(USH2A):c.98C>A (p.Ser33Ter)	rs2039690812
NM_206965.2(FTCD):c.990dup (p.Pro331fs)	rs398124234
NM_207037.2(TCF12):c.1838G>A (p.Arg613His)	rs730880016
NM_207122.2(EXT2):c.1935+1G>T	rs945058783
NM_213649.2(SFXN4):c.930del (p.Ile310fs)	rs1589625048
PALB2:c.2515-1G>T	rs587776417
Single allele