Variants from Genome-Nilou Lab with conflicting interpretations

Minimum review status of the submission from Genome-Nilou Lab:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Genome-Nilou Lab:	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
12690	14607	1	4650	2865	32	748	7759

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
Genome-Nilou Lab		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	affects	association	other
	pathogenic	1	721	43	0	0	14	0	0
	likely pathogenic	1111	0	176	5	0	4	0	0
	uncertain significance	247	348	0	1230	633	2	0	2
	likely benign	14	25	903	0	1075	1	0	2
	benign	14	17	184	1744	0	0	1	6

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	10919	1	1923	1626	8	265	3823
Illumina Laboratory Services, Illumina	0	4712	0	690	571	0	9	1268
Natera, Inc.	0	2923	0	511	201	0	54	766
Myriad Genetics, Inc.	0	1144	0	546	71	0	26	643
Baylor Genetics	0	1031	0	431	24	0	76	530
Fulgent Genetics, Fulgent Genetics	0	1473	0	419	27	0	67	513
Counsyl	0	942	0	276	32	0	88	396
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	706	0	213	4	0	82	299
Color Diagnostics, LLC DBA Color Health	0	852	0	153	115	0	19	287
All of Us Research Program, National Institutes of Health	0	787	0	112	118	0	17	247
Ambry Genetics	0	608	0	65	126	0	56	247
OMIM	0	344	0	135	14	0	47	196
Mendelics	0	614	0	108	48	0	22	178
Revvity Omics, Revvity	0	490	0	99	42	0	15	156
3billion	0	333	0	84	12	0	12	108
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	620	0	83	14	0	9	106
Department of Pathology and Laboratory Medicine, Sinai Health System	0	232	0	46	36	0	13	95
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	229	0	70	3	0	18	91
Institute of Human Genetics, University of Leipzig Medical Center	0	194	0	49	19	0	21	89
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	382	0	85	1	0	1	87
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	202	0	50	10	0	25	85
Genetic Services Laboratory, University of Chicago	0	224	0	37	30	0	11	78
Neuberg Centre For Genomic Medicine, NCGM	0	160	0	50	5	0	16	71
Johns Hopkins Genomics, Johns Hopkins University	0	113	0	23	21	0	17	61
Center for Human Genetics, Inc, Center for Human Genetics, Inc	0	143	0	45	5	0	1	51
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	136	0	48	2	0	0	50
Genome Diagnostics Laboratory, The Hospital for Sick Children	0	212	0	38	5	0	6	49
Variantyx, Inc.	0	73	0	35	0	0	13	48
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	123	0	42	0	0	4	46
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	130	0	23	16	0	6	45
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	8	0	2	40	0	1	43
Genomenon, Inc, Genomenon, Inc	0	112	0	28	6	0	8	42
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	0	98	0	17	6	0	19	42
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	72	0	30	2	0	9	41
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	91	0	4	36	0	1	41
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	233	0	31	5	0	0	36
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	660	0	33	2	0	0	35
CeGaT Center for Human Genetics Tuebingen	0	62	0	27	6	0	1	34
GeneDx	0	212	0	29	4	0	0	33
Juno Genomics, Hangzhou Juno Genomics, Inc	0	139	0	26	0	0	7	33
Mayo Clinic Laboratories, Mayo Clinic	0	119	0	22	10	0	0	32
PreventionGenetics, part of Exact Sciences	0	89	0	29	2	0	0	31
MGZ Medical Genetics Center	0	123	0	23	5	0	2	30
First Genomix Gene Laboratory, Genetic Diagnostics Department	0	38	0	14	0	0	11	25
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel	0	49	0	7	7	0	10	24
CENTOGENE GmbH and LLC - Guiding Precision Medicine	0	37	0	17	2	0	3	22
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	108	0	16	3	0	3	22
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	45	0	17	1	0	4	22
Athena Diagnostics	0	192	0	19	1	0	1	21
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	29	0	13	8	0	0	21
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	5	0	19	0	0	2	21
Medical Genetics, University of Parma	0	61	0	12	2	0	7	21
Institute of Human Genetics Munich, TUM University Hospital	0	36	0	16	0	0	4	20
UAB Medical Genomics Laboratory, UAB Medicine	0	15	0	19	0	0	0	19
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University	0	57	0	12	3	0	3	18
Clinical Biochemistry Laboratory, Health Services Laboratory	0	0	0	0	17	0	0	17
Clinical Genomics Laboratory, Washington University in St. Louis	0	30	0	4	12	0	1	17
Genetics and Molecular Pathology, SA Pathology	0	52	0	10	3	0	4	17
Giacomini Lab, University of California, San Francisco	0	21	0	6	4	0	7	17
Department of Human Genetics, Hannover Medical School	0	25	0	13	1	0	2	16
Genomics England Pilot Project, Genomics England	0	13	0	14	1	0	1	16
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	55	0	15	0	0	1	16
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	0	46	0	14	0	0	2	16
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	24	0	14	0	0	2	16
NHS Central & South Genomic Laboratory Hub	0	78	0	14	0	0	2	16
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	77	0	10	4	0	1	15
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	51	0	14	0	0	1	15
Molecular Pathology, Peter Maccallum Cancer Centre	0	58	0	6	7	0	2	15
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center	0	2	0	0	0	15	0	15
New York Genome Center	0	94	0	6	9	0	0	15
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	33	0	11	0	0	3	14
Dubai Health Genomic Medicine Center, Dubai Health	0	32	0	9	4	0	1	14
SingHealth Duke-NUS Institute of Precision Medicine	0	16	0	7	3	0	4	14
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	56	0	12	0	0	1	13
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	25	0	9	0	0	4	13
Breakthrough Genomics, Breakthrough Genomics	0	106	0	12	0	0	0	12
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	0	9	0	11	0	0	1	12
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	31	0	10	1	0	1	12
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	13	0	3	6	0	3	12
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	25	0	9	0	0	2	11
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	0	18	0	2	7	0	2	11
Molecular Diagnostics Laboratory, Catalan Institute of Oncology	0	11	0	10	1	0	0	11
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research	0	25	0	4	0	0	7	11
SIB Swiss Institute of Bioinformatics	0	23	0	10	1	0	0	11
Sema4, Sema4	0	34	0	9	2	0	0	11
ClinGen TP53 Variant Curation Expert Panel, ClinGen	0	14	0	4	0	0	6	10
Daryl Scott Lab, Baylor College of Medicine	0	24	0	5	3	0	2	10
Dasa	0	43	0	9	1	0	0	10
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital	0	11	0	10	0	0	0	10
CFTR-France	0	10	0	4	1	0	4	9
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen	0	22	0	7	1	0	1	9
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	97	0	9	0	0	0	9
LDLR-LOVD, British Heart Foundation	0	15	0	6	3	0	0	9
Lildballe Lab, Aarhus University Hospital	0	28	0	4	0	0	5	9
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	11	0	9	0	0	0	9
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	0	1	0	0	4	1	3	8
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	0	24	0	5	0	0	3	8
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	0	22	0	4	3	0	1	8
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	30	0	7	0	0	1	8
Albrecht-Kossel-Institute, Medical University Rostock	0	3	0	2	2	0	3	7
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	62	0	1	0	0	6	7
Division of Human Genetics, Children's Hospital of Philadelphia	0	18	0	5	0	0	2	7
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi	0	0	0	0	0	7	0	7
Genesis Genomics	0	2	0	7	0	0	0	7
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	0	12	0	5	2	0	0	7
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	0	13	0	3	3	0	1	7
Laboratory of Genetics in Ophthalmology, Institut Imagine	0	26	0	7	0	0	0	7
Laboratory of Prof. Karen Avraham, Tel Aviv University	0	4	0	0	1	0	6	7
Ocular Genomics Institute, Massachusetts Eye and Ear	0	63	0	6	1	0	0	7
Reproductive Health Research and Development, BGI Genomics	0	10	0	7	0	0	0	7
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	16	0	3	0	0	3	6
Clinical Genetics Laboratory, Skane University Hospital Lund	0	8	0	5	0	0	1	6
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	0	25	0	4	0	0	2	6
Department of Genetics, Sultan Qaboos University Hospital	0	33	0	6	0	0	0	6
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam	0	10	0	4	0	0	2	6
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub	0	6	0	2	0	0	4	6
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	0	12	0	5	0	0	1	6
Laboratoire de Génétique Moléculaire, CHU Bordeaux	0	10	0	3	2	0	1	6
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics	0	5	0	0	1	0	5	6
Lifecell International Pvt. Ltd	0	9	0	6	0	0	0	6
Medical and Scientific Branch, Hong Kong Genome Institute	0	17	0	4	0	0	2	6
Paris Brain Institute, Inserm - ICM	0	16	0	6	0	0	0	6
Pathway Genomics	0	5	0	3	3	0	0	6
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	19	0	5	1	0	0	6
Centre for Inherited Metabolic Diseases, Karolinska University Hospital	0	11	0	4	0	0	1	5
Elsea Laboratory, Baylor College of Medicine	0	7	0	2	1	0	2	5
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences	0	6	0	3	0	0	2	5
Hadassah Hebrew University Medical Center	0	12	0	3	0	0	2	5
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	8	0	2	1	0	2	5
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	29	0	2	2	0	1	5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	0	2	0	4	1	0	0	5
Leiden Open Variation Database	0	0	0	0	3	0	2	5
Molecular Genetics, Royal Melbourne Hospital	0	48	0	4	0	0	1	5
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital	0	5	0	3	0	0	2	5
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust	0	9	0	4	0	0	1	5
UCLA Clinical Genomics Center, UCLA	0	3	0	5	0	0	0	5
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	14	0	4	0	0	1	5
deCODE genetics, Amgen	0	0	0	5	0	0	0	5
BRCAlab, Lund University	0	7	0	3	0	0	1	4
CSER _CC_NCGL, University of Washington	0	11	0	0	3	0	1	4
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	0	16	0	0	2	0	2	4
Center for Molecular Medicine, Children’s Hospital of Fudan University	0	2	0	2	0	0	2	4
Center of Excellence for Medical Genomics, Chulalongkorn University	0	0	0	3	0	0	1	4
Centre of Medical Genetics, University Hospital Muenster	0	12	0	2	1	0	1	4
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel	0	4	0	2	0	0	2	4
Department of Molecular Genetics, Istishari Arab Hospital	0	14	0	4	0	0	0	4
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand	0	13	0	4	0	0	0	4
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP	0	20	0	4	0	0	0	4
Institute of Immunology and Genetics Kaiserslautern	0	21	0	4	0	0	0	4
Suma Genomics	0	14	0	1	0	0	3	4
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	0	0	0	1	1	0	2	4
Undiagnosed Diseases Network, NIH	0	7	0	3	1	0	0	4
Cardiovascular Biomarker Research Laboratory, Mayo Clinic	0	2	0	1	2	0	0	3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	0	2	0	3	0	0	0	3
Centre for Human Genetics	0	8	0	3	0	0	0	3
ClinGen ACADVL Variant Curation Expert Panel, ClinGen	0	3	0	1	2	0	0	3
ClinGen PAH Variant Curation Expert Panel	0	19	0	1	2	0	0	3
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada	0	5	0	3	0	0	0	3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	9	0	3	0	0	0	3
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics, Hospital Universitario Hospital La Paz	0	8	0	3	0	0	0	3
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences	0	19	0	3	0	0	0	3
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital	0	7	0	3	0	0	0	3
Division of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center	0	8	0	3	0	0	0	3
Dr.Nikuei Genetic Center	0	3	0	2	1	0	0	3
GENinCode PLC	0	23	0	2	1	0	0	3
Genetics Department, Catlab	0	3	0	2	0	0	1	3
Gharavi Laboratory, Columbia University	0	2	0	0	0	0	3	3
Institute of Human Genetics, Cologne University	0	3	0	2	0	0	1	3
Institute of Human Genetics, Heidelberg University	0	5	0	3	0	0	0	3
Institute of Human Genetics, University Hospital of Duesseldorf	0	5	0	0	1	0	2	3
Kariminejad - Najmabadi Pathology & Genetics Center	0	10	0	3	0	0	0	3
Laboratory of Molecular, Cellular and Translation Genetics in Otolaryngology/ Lim32-hcfmusp, University of Sao Paulo School of Medicine Clinics Hospital	0	1	0	2	0	0	1	3
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	7	0	3	0	0	0	3
Molecular Genetics, University Hospital Bordeaux	0	0	0	0	0	0	3	3
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)	0	3	0	0	0	0	3	3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	0	8	0	3	0	0	0	3
Precision Medicine Center, Zhengzhou University	0	5	0	1	1	0	1	3
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic	0	2	0	2	0	0	1	3
Service de Génétique Moléculaire, Hôpital Robert Debré	0	6	0	3	0	0	0	3
True Health Diagnostics	0	1	0	3	0	0	0	3
University of Washington Department of Laboratory Medicine, University of Washington	0	2	0	2	1	0	0	3
Arcensus	0	9	0	2	0	0	0	2
Atomic Energy Commission of Syria (AECS)	0	1	0	2	0	0	0	2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	0	4	0	2	0	0	0	2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital	0	7	0	2	0	0	0	2
CFTR2	0	11	0	1	1	0	0	2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service	0	3	0	2	0	0	0	2
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital	0	0	0	1	1	0	0	2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	2	0	2	0	0	0	2
Center of Genomic medicine, Geneva, University Hospital of Geneva	0	18	0	2	0	0	0	2
Center of Human Genetics, Hôpital Erasme	0	3	0	2	0	0	0	2
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix	0	1	0	0	2	0	0	2
Centre for Human Genetics, University of Kinshasa	0	0	0	2	0	0	0	2
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen	0	2	0	2	0	0	0	2
ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen	0	0	0	2	0	0	0	2
Clinical Genetics, Academic Medical Center	0	8	0	2	0	0	0	2
Clinical Genomics Laboratory, Stanford Medicine	0	19	0	1	0	0	1	2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	0	13	0	2	0	0	0	2
DBGen Ocular Genomics	0	20	0	1	0	0	1	2
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen	0	11	0	2	0	0	0	2
Department of Human Genetics, University Hospital Magdeburg	0	3	0	2	0	0	0	2
Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine	0	5	0	2	0	0	0	2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	0	0	0	2	0	0	0	2
Eurofins Ntd Llc (ga)	0	15	0	2	0	0	0	2
Fundacion Hipercolesterolemia Familiar	0	0	0	0	1	0	1	2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	0	7	0	2	0	0	0	2
GeneID Lab - Advanced Molecular Diagnostics	0	3	0	2	0	0	0	2
GeneReviews	0	263	0	1	0	0	1	2
Genomic Medicine Lab, University of California San Francisco	0	7	0	2	0	0	0	2
IIFP, CONICET-UNLP	0	9	0	1	0	0	1	2
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	0	0	0	1	1	0	0	2
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino"	0	9	0	2	0	0	0	2
Institute for Genomic Medicine, Nationwide Children's Hospital	0	1	0	0	0	0	2	2
Institute of Medical Molecular Genetics, University of Zurich	0	0	0	2	0	0	0	2
KTest Genetics, KTest	0	0	0	2	0	0	0	2
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi	0	0	0	0	0	0	2	2
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	0	9	0	0	1	0	1	2
Laboratory of Hematology, Radboud University Medical Center	0	0	0	1	1	0	0	2
Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo	0	1	0	1	0	0	1	2
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez	0	1	0	2	0	0	0	2
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University	0	1	0	2	0	0	0	2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	0	4	0	0	0	0	2	2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,	0	2	0	0	0	0	2	2
National Institute of Mental Health and Neurosciences	0	0	0	0	0	0	2	2
Neurology Department, Peking University First Hospital	0	5	0	1	0	0	1	2
OLLIN Analises Genomicas, OLLIN	0	15	0	0	0	0	2	2
PXE International	0	26	0	1	1	0	0	2
Pars Genome Lab	0	147	0	1	1	0	0	2
Phosphorus, Inc.	0	27	0	1	1	0	0	2
Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences	0	2	0	1	0	0	1	2
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital	0	21	0	2	0	0	0	2
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul	0	2	0	1	0	0	0	1
Acibadem Labgen Genetic Diagnostic Center	0	0	0	1	0	0	0	1
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico	0	0	0	1	0	0	0	1
Biotechnology Lab, University of Central Punjab	0	1	0	0	0	0	1	1
Breast Cancer Information Core (BIC) (BRCA1)	0	1	0	0	0	0	1	1
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia	0	0	0	0	0	0	1	1
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences	0	1	0	0	0	0	1	1
Care4Rare-SOLVE, CHEO	0	0	0	1	0	0	0	1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen	0	1	0	1	0	0	0	1
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital	0	0	0	0	1	0	0	1
Center for Personalized Medicine, Children's Hospital Los Angeles	0	0	0	1	0	0	0	1
Center of Medical Genetics, Central South University	0	1	0	1	0	0	0	1
Centre de Génétique Humaine, Institut de Pathologie Et de Génétique	0	0	0	0	1	0	0	1
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen	0	1	0	0	1	0	0	1
Clinical Genetics and Genomics, Karolinska University Hospital	0	1	0	0	1	0	0	1
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town	0	1	0	1	0	0	0	1
Coban-Akdemir Lab, University of Texas Health Science Center	0	0	0	0	0	0	1	1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center	0	0	0	0	0	0	1	1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia	0	3	0	1	0	0	0	1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences	0	6	0	1	0	0	0	1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	29	0	1	0	0	0	1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	0	3	0	1	0	0	0	1
Department of Medical Genetics, College of Basic Medicine, Army Medical University	0	0	0	0	0	0	1	1
Department of Medical Genetics, Oslo University Hospital	0	0	0	1	0	0	0	1
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences	0	2	0	1	0	0	0	1
Department of Neurology, Zibo Changguo Hospital	0	3	0	1	0	0	0	1
Department of Pediatric Genetics, Istanbul University - Cerrahpasa	0	0	0	1	0	0	0	1
Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf	0	1	0	1	0	0	0	1
Department of Prosthodontics, Peking University School and Hospital of Stomatology	0	0	0	1	0	0	0	1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital	0	4	0	1	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	3	0	0	1	0	0	1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center	0	6	0	1	0	0	0	1
Division of Medical Genetics, University of Washington	0	1	0	1	0	0	0	1
Duke University Health System Sequencing Clinic, Duke University Health System	0	4	0	1	0	0	0	1
Eurofins-Biomnis	0	3	0	1	0	0	0	1
Farhud Genetics Clinic, Farhud Genetics Lab	0	0	0	1	0	0	0	1
GeNE CliniK, Regional Hospital Limbe	0	0	0	0	1	0	0	1
Gene Discovery Core-Manton Center, Boston Children's Hospital	0	0	0	1	0	0	0	1
GenePathDx, GenePath diagnostics	0	0	0	1	0	0	0	1
Genetic Foundation of Khorasan Razavi (GFKR)	0	2	0	1	0	0	0	1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli	0	2	0	1	0	0	0	1
Genomic Diagnostics Laboratory, National Institute of Medical Genomics	0	0	0	1	0	0	0	1
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital	0	0	0	0	0	0	1	1
Genomics, Clalit Research Institute, Clalit Health Care	0	0	0	0	0	0	1	1
Génetica Clinica/ Bioquímica Clínica, Genética Hospital Universitario Miguel Servet	0	0	0	0	1	0	0	1
Hauer Lab, Department Of Pediatric Oncology, Technical University Munich	0	0	0	1	0	0	0	1
Huiwen Zhang's lab, Shanghai Jiao Tong University School of Medicine, Xinhua Hospital	0	0	0	1	0	0	0	1
Human Genetics Bochum, Ruhr University Bochum	0	4	0	0	0	0	1	1
Human Genetics Disease in Children – Taif University, Taif University	0	4	0	0	0	0	1	1
Human Genetics Research Lab, Central University of Jammu	0	1	0	1	0	0	0	1
Human Genetics Unit, University Of Colombo	0	1	0	1	0	0	0	1
Iberoamerican FH Network	0	3	0	0	0	0	1	1
Inserm U 954, Faculté de Médecine de Nancy	0	2	0	1	0	0	0	1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	0	6	0	1	0	0	0	1
Institute for Integrative and Experimental Genomics, University of Luebeck	0	0	0	0	0	0	1	1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	7	0	0	0	0	1	1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	0	1	0	1	0	0	0	1
Institute of Human Genetics, Medical University Innsbruck	0	4	0	1	0	0	0	1
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	0	1	0	0	0	0	1	1
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf	0	0	0	1	0	0	0	1
Institute of Medical Genetics, University of Zurich	0	5	0	1	0	0	0	1
Institute of Rare Diseases, West China Hospital, Sichuan University	0	0	0	0	0	0	1	1
Intergen Genetics and Rare Diseases Diagnosis Center	0	8	0	1	0	0	0	1
James R Lupski Laboratory, Baylor College Of Medicine	0	0	0	1	0	0	0	1
Keimyung University Dongsan Hospital, Keimyung University School of Medicine	0	0	0	1	0	0	0	1
Kids Neuroscience Centre, Sydney Children's Hospitals Network	0	2	0	0	0	0	1	1
King Laboratory, University of Washington	0	2	0	0	0	0	1	1
LIPIGEN - Lipid Transport Disorders Italian Genetic Network	0	0	0	1	0	0	0	1
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University	0	0	0	1	0	0	0	1
Laboratoire Génétique Moléculaire, CHRU TOURS	0	1	0	1	0	0	0	1
Laboratorio de Biologia Molecular/Medicina Genomica - IFF/Fiocruz, Instituto Fernandes Figueira, Fundacao Oswaldo Cruz	0	0	0	1	0	0	0	1
Laboratory Cellgenetics, GMDL Cellgenetics	0	0	0	1	0	0	0	1
Laboratory of Human Genetics, Universidade de São Paulo	0	0	0	0	0	0	1	1
Laboratory of Medical Genetics, University of Torino	0	1	0	1	0	0	0	1
Laboratory of Molecular Genetics, CHU Rennes	0	0	0	1	0	0	0	1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine	0	1	0	0	0	0	1	1
McDonnell Genome Institute, Washington University in St. Louis	0	0	0	0	0	0	1	1
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University	0	1	0	1	0	0	0	1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province	0	2	0	1	0	0	0	1
Medical Genetics Laboratory, Etlik City Hospital	0	0	0	0	0	0	1	1
Medical Genetics Laboratory, Tarbiat Modares University	0	4	0	1	0	0	0	1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital	0	0	0	1	0	0	0	1
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre	0	1	0	1	0	0	0	1
Molecular Biology Laboratory, Fundació Puigvert	0	11	0	0	0	0	1	1
Molecular Genetics Lab, CHRU Brest	0	1	0	0	1	0	0	1
Molecular Genetics Laboratory, Institute for Ophthalmic Research	0	4	0	0	0	0	1	1
Molecular Genetics laboratory, Necker Hospital	0	1	0	0	0	0	1	1
Molecular Therapies Laboratory, Murdoch University	0	0	0	1	0	0	0	1
National Institute on Deafness and Communication Disorders, National Institutes of Health	0	1	0	1	0	0	0	1
Nephrology, University of Crete, University General Hospital of Heraklion	0	5	0	1	0	0	0	1
Next Generation Genetic Polyclinic	0	1	0	1	0	0	0	1
Obstetrics Unit, Tongji Hospital, Huazhong University of Science and Technology	0	0	0	1	0	0	0	1
Otolaryngology - Head and Neck Surgery, The General Hospital of the PLA Rocket Force	0	0	0	1	0	0	0	1
Pangenia Genomics, Pangenia Inc.	0	3	0	0	0	0	1	1
Payam Genetics Center, General Welfare Department of North Khorasan Province	0	4	0	1	0	0	0	1
Pediatric Immunology Service, The Chaim Sheba Medical Center at Tel HaShomer	0	0	0	0	1	0	0	1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital	0	0	0	0	1	0	0	1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations	0	0	0	1	0	0	0	1
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center	0	1	0	0	1	0	0	1
Prof. Brien Holden Eye Research Center, Hyderabad Eye Research Foundation, L V Prasad Eye Institute	0	0	0	0	1	0	0	1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara	0	0	0	0	0	0	1	1
Research Group Niklas Dahl, Uppsala University	0	0	0	1	0	0	0	1
Robarts Research Institute, Western University	0	2	0	0	1	0	0	1
Sadaf Naz Human Genetics Laboratory, University of the Punjab	0	0	0	1	0	0	0	1
Sayed Lab, Stanford University	0	0	0	0	1	0	0	1
Section for Clinical Neurogenetics, University of Tübingen	0	1	0	1	0	0	0	1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana	0	0	0	0	0	0	1	1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria	0	0	0	0	0	0	1	1
Sharing Clinical Reports Project (SCRP)	0	1	0	1	0	0	0	1
Sharon lab, Hadassah-Hebrew University Medical Center	0	1	0	0	0	0	1	1
Solve-RD Consortium	0	2	0	1	0	0	0	1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University	0	2	0	1	0	0	0	1
Swedish Neurofibromatosis Center, Swedish Medical Center	0	1	0	0	0	0	1	1
The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine	0	2	0	0	0	0	1	1
Unidad de Estudios Geneticos y Forenses, Instituto Venezolano de Investigaciones Cientificas	0	0	0	0	0	0	1	1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	0	3	0	1	0	0	0	1
University Children's Hospital, University of Zurich	0	0	0	1	0	0	0	1
University of Iowa Renal Genetics Clinic, University of Iowa	0	0	0	0	1	0	0	1
Vantari Genetics	0	0	0	1	0	0	0	1
Wangler Lab, Baylor College of Medicine	0	0	0	1	0	0	0	1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	0	14	0	0	0	0	1	1
Wonkam Laboratory, Johns Hopkins University	0	1	0	0	0	0	1	1
Yunnan Provincial Key Laboratory of Clinical Virology, Institution of Basic and Clinical Medicine of Yunnan Province, The First People's Hospital of Yunnan Province	0	0	0	0	0	1	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.1060+7=	rs2738442	0.99995
NM_001363.5(DKC1):c.369G>T (p.Thr123=)	rs2728532	0.99384
NM_004525.3(LRP2):c.79+15A>G	rs1559013	0.98948
NM_005866.4(SIGMAR1):c.*31A>G	rs4879809	0.98825
NM_004998.4(MYO1E):c.332+8G>A	rs4508371	0.98102
NM_012203.2(GRHPR):c.288-11C>T	rs2736664	0.92549
NM_000369.5(TSHR):c.2181G>C (p.Glu727Asp)	rs1991517	0.90865
NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu)	rs505151	0.89865
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly)	rs12021720	0.87100
NM_000527.5(LDLR):c.2312-136A>G	rs2569538	0.86836
NM_012203.2(GRHPR):c.494-68A>G	rs309459	0.86485
NM_012203.2(GRHPR):c.579A>G (p.Ala193=)	rs309458	0.86193
NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile)	rs562556	0.83129
NM_000518.5(HBB):c.315+16G>C	rs10768683	0.81748
NM_000030.3(AGXT):c.777-44A>G	rs12464426	0.79262
NM_001366385.1(CARD14):c.675+26G>A	rs4889991	0.77525
NM_002526.4(NT5E):c.1126A>G (p.Thr376Ala)	rs2229523	0.76322
NM_000379.4(XDH):c.3276+12A>G	rs1366813	0.75380
NM_002185.5(IL7R):c.412G>A (p.Val138Ile)	rs1494555	0.72524
NM_014585.6(SLC40A1):c.44-24G>C	rs1439816	0.69640
NM_004415.4(DSP):c.8472G>C (p.Gly2824=)	rs2744380	0.69057
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr)	rs1494558	0.68368
NM_000376.3(VDR):c.2T>C (p.Met1Thr)	rs2228570	0.66130
NM_000152.5(GAA):c.668G>A (p.Arg223His)	rs1042395	0.65654
NM_000186.4(CFH):c.1204C>T (p.His402Tyr)	rs1061170	0.64500
NM_000159.4(GCDH):c.*165A>G	rs8012	0.64188
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=)	rs4489420	0.62688
NM_000546.6(TP53):c.215C>G (p.Pro72Arg)	rs1042522	0.62654
NM_000243.3(MEFV):c.*267G>A	rs2741918	0.58813
NM_000243.3(MEFV):c.*245G>A	rs2741919	0.58215
NM_000376.3(VDR):c.1025-49G>T	rs7975232	0.54878
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser)	rs2239359	0.51262
NM_001142800.2(EYS):c.1809C>T (p.Val603=)	rs9345601	0.50550
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr)	rs398607	0.49249
NM_001174089.2(SLC4A11):c.433A>C (p.Arg145=)	rs3827075	0.49054
NM_017617.5(NOTCH1):c.1555+10A>G	rs11145767	0.48034
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met)	rs2229813	0.46878
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp)	rs7195066	0.46389
NM_001297.5(CNGB1):c.1122-15C>T	rs2303778	0.46316
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val)	rs1055138	0.45965
NM_001202.6(BMP4):c.455T>C (p.Val152Ala)	rs17563	0.43916
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=)	rs10521	0.43502
NM_000030.3(AGXT):c.846+52G>A	rs12695032	0.43208
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=)	rs2229971	0.42989
NM_000186.4(CFH):c.184G>A (p.Val62Ile)	rs800292	0.40446
NM_001366385.1(CARD14):c.2399-4A>G	rs11653893	0.40359
NM_000384.3(APOB):c.1853C>T (p.Ala618Val)	rs679899	0.40054
NM_001366385.1(CARD14):c.2458C>T (p.Arg820Trp)	rs11652075	0.39960
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=)	rs7413162	0.39681
NM_001366385.1(CARD14):c.633G>A (p.Glu211=)	rs4889990	0.37881
NM_000527.5(LDLR):c.1959T>C (p.Val653=)	rs5925	0.37645
NM_020247.5(COQ8A):c.1573-20C>G	rs2297416	0.37163
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu)	rs1169288	0.35489
NM_153700.2(STRC):c.179T>C (p.Phe60Ser)	rs2729509	0.34286
NM_000527.5(LDLR):c.1060+10G>C	rs12710260	0.34072
NM_005343.4(HRAS):c.81T>C (p.His27=)	rs12628	0.34066
NM_000527.5(LDLR):c.1773C>T (p.Asn591=)	rs688	0.33665
NM_000159.4(GCDH):c.*288G>T	rs9384	0.33119
NM_001171.6(ABCC6):c.1233T>C (p.Asn411=)	rs9930886	0.31672
NM_001080467.3(MYO5B):c.3163_3165dup (p.Leu1055dup)	rs397841722	0.31640
NM_000030.3(AGXT):c.*41C>A	rs4273214	0.30681
NM_138413.4(HOGA1):c.912C>A (p.Ala304=)	rs12261752	0.29673
NM_000030.3(AGXT):c.524+91C>T	rs10196315	0.29415
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr)	rs1043424	0.27663
NM_000140.5(FECH):c.68-23C>T	rs2269219	0.27629
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)	rs1801131	0.25830
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln)	rs34787999	0.24782
NM_000384.3(APOB):c.293C>T (p.Thr98Ile)	rs1367117	0.24155
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)	rs1042602	0.24046
NM_014625.4(NPHS2):c.-51G>T	rs12406197	0.23878
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln)	rs2238472	0.22903
NM_000527.5(LDLR):c.1705+56C>T	rs4508523	0.21747
NM_005422.4(TECTA):c.2795T>C (p.Val932Ala)	rs520805	0.20516
NM_000593.6(TAP1):c.997A>G (p.Ile333Val)	rs1057141	0.20047
NM_138413.4(HOGA1):c.212-21A>G	rs11817730	0.19877
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser)	rs2071421	0.19530
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)	rs1126809	0.17677
NM_000593.6(TAP1):c.1910A>G (p.Asp637Gly)	rs1135216	0.17500
NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr)	rs5030732	0.16658
NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys)	rs1042031	0.16481
NM_138413.4(HOGA1):c.700+67G>A	rs2297643	0.16278
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met)	rs4426527	0.15412
NM_000030.3(AGXT):c.264C>T (p.Ala88=)	rs35698882	0.15328
NM_000030.3(AGXT):c.680+17C>T	rs11693280	0.14843
NM_000186.4(CFH):c.2808G>T (p.Glu936Asp)	rs1065489	0.14779
NM_000030.3(AGXT):c.358+13C>T	rs34995778	0.14441
NM_013382.7(POMT2):c.1654-6A>G	rs4540995	0.14051
NM_001002294.3(FMO3):c.923A>G (p.Glu308Gly)	rs2266780	0.13897
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg)	rs61753610	0.12981
NM_001039958.2(MESP2):c.573G>A (p.Gly191=)	rs113097169	0.12941
NM_000030.3(AGXT):c.654G>A (p.Ser218=)	rs33958047	0.12729
NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser)	rs1800440	0.11965
NM_001077365.2(POMT1):c.699+52C>T	rs3887873	0.11757
NM_000153.4(GALC):c.742G>A (p.Asp248Asn)	rs34362748	0.11424
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=)	rs11000009	0.10970
NM_001201543.2(FAM161A):c.1665G>A (p.Leu555=)	rs6545910	0.10308
NM_000527.5(LDLR):c.190+56G>A	rs3745677	0.09858
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly)	rs3729989	0.09513
NM_013296.5(GPSM2):c.380G>A (p.Arg127Gln)	rs41279678	0.09453
NM_001384474.1(LOXHD1):c.2175C>T (p.Asn725=)	rs2086005	0.09034
NM_014625.4(NPHS2):c.1038A>G (p.Leu346=)	rs3818587	0.08745
NM_014625.4(NPHS2):c.288C>T (p.Ser96=)	rs3738423	0.08404
NM_000368.5(TSC1):c.2829C>T (p.Ala943=)	rs4962081	0.08157
NM_000110.4(DPYD):c.496A>G (p.Met166Val)	rs2297595	0.08071
NM_000186.4(CFH):c.3019G>T (p.Val1007Leu)	rs534399	0.07904
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His)	rs11549936	0.07892
NM_017433.5(MYO3A):c.624C>T (p.Asp208=)	rs35010955	0.07818
NM_000129.4(F13A1):c.1704A>G (p.Glu568=)	rs5986	0.07753
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)	rs2070074	0.07384
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)	rs35953626	0.07232
NM_201253.3(CRB1):c.*28T>C	rs41302107	0.07060
NM_001384474.1(LOXHD1):c.5399+13G>A	rs59128481	0.07033
NM_001384474.1(LOXHD1):c.4868A>G (p.Glu1623Gly)	rs12606417	0.06969
NM_003060.4(SLC22A5):c.1052+101A>G	rs2073645	0.06948
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly)	rs72657698	0.06836
NM_017433.5(MYO3A):c.660C>T (p.Ala220=)	rs34067308	0.06790
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly)	rs112562759	0.06673
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu)	rs2227935	0.06567
NM_000169.3(GLA):c.-12G>A	rs3027585	0.06554
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg)	rs696723	0.06184
NM_017433.5(MYO3A):c.2497G>T (p.Ala833Ser)	rs33947968	0.06112
NM_020533.3(MCOLN1):c.966A>C (p.Arg322=)	rs61736600	0.06042
NM_000022.4(ADA):c.239A>G (p.Lys80Arg)	rs11555566	0.05947
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile)	rs515299	0.05928
NM_001384474.1(LOXHD1):c.1087G>A (p.Val363Ile)	rs10163657	0.05881
NM_022356.4(P3H1):c.1045G>A (p.Gly349Arg)	rs6700677	0.05835
NM_022367.4(SEMA4A):c.*37T>C	rs41265023	0.05725
NM_000186.4(CFH):c.3138C>T (p.Thr1046=)	rs61822181	0.05563
NM_000379.4(XDH):c.2107A>G (p.Ile703Val)	rs17011368	0.05498
NM_000487.6(ARSA):c.*96A>G	rs6151429	0.05120
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly)	rs35219601	0.04960
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=)	rs28730711	0.04871
NM_014049.5(ACAD9):c.-44_-41dup	rs387906242	0.04863
NM_000155.4(GALT):c.378-27G>C	rs41274865	0.04621
NM_000155.4(GALT):c.508-24G>A	rs41274867	0.04612
NM_000155.4(GALT):c.507+62G>A	rs2277202	0.04610
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)	rs1800309	0.04394
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile)	rs4740164	0.04317
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln)	rs45559835	0.04192
NM_130849.4(SLC39A4):c.63G>C (p.Thr21=)	rs13251676	0.04058
NM_000153.4(GALC):c.550C>T (p.Arg184Cys)	rs1805078	0.03875
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln)	rs56181447	0.03706
NM_030787.4(CFHR5):c.434G>A (p.Gly145Glu)	rs57960694	0.03706
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val)	rs6339	0.03698
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr)	rs6336	0.03696
NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly)	rs12406479	0.03481
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp)	rs1800556	0.03280
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln)	rs41265017	0.03238
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_001184.4(ATR):c.3725+18A>G	rs73864554	0.03201
NM_015627.3(LDLRAP1):c.712C>T (p.Arg238Trp)	rs41291058	0.03155
NM_015346.4(ZFYVE26):c.7232G>A (p.Arg2411His)	rs34373049	0.03090
NM_002016.2(FLG):c.4678C>T (p.Arg1560Cys)	rs151103850	0.02982
NM_014625.4(NPHS2):c.873+7A>G	rs115778946	0.02940
NM_013339.4(ALG6):c.391T>C (p.Tyr131His)	rs35383149	0.02935
NM_000379.4(XDH):c.837C>T (p.Val279=)	rs4407290	0.02892
NM_000531.6(OTC):c.809A>G (p.Gln270Arg)	rs1800328	0.02868
NM_182894.3(VSX2):c.831G>A (p.Leu277=)	rs62006815	0.02860
NM_000051.4(ATM):c.3403-15T>A	rs79701258	0.02833
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg)	rs7334118	0.02828
NM_001256864.2(DNAJC6):c.194-20_194-19insG	rs111346712	0.02808
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)	rs61747728	0.02796
NM_000135.4(FANCA):c.3348+18A>G	rs1800347	0.02789
NM_138413.4(HOGA1):c.396G>A (p.Ala132=)	rs41290456	0.02716
NM_018122.5(DARS2):c.663+8T>C	rs73037062	0.02691
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr)	rs115532916	0.02662
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=)	rs1801248	0.02598
NM_001232.4(CASQ2):c.731A>G (p.His244Arg)	rs28730716	0.02511
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys)	rs114234874	0.02502
NM_000051.4(ATM):c.8786+8A>C	rs4986839	0.02488
NM_000069.3(CACNA1S):c.2063+7G>T	rs79984703	0.02430
NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys)	rs36024592	0.02382
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr)	rs111033266	0.02380
NM_003060.4(SLC22A5):c.1645C>T (p.Pro549Ser)	rs11568525	0.02345
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu)	rs13021201	0.02340
NM_000379.4(XDH):c.514G>A (p.Gly172Arg)	rs45523133	0.02328
NM_000069.3(CACNA1S):c.2748C>T (p.His916=)	rs2297902	0.02302
NM_015346.4(ZFYVE26):c.2852C>T (p.Thr951Met)	rs35471427	0.02295
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=)	rs61743997	0.02259
NM_000379.4(XDH):c.1936A>G (p.Ile646Val)	rs17323225	0.02243
NM_025136.4(OPA3):c.-38A>G	rs45527139	0.02241
NM_000152.5(GAA):c.271G>A (p.Asp91Asn)	rs1800299	0.02215
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys)	rs1140064	0.02197
NM_004006.3(DMD):c.8762A>G (p.His2921Arg)	rs1800279	0.02191
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe)	rs10040427	0.02190
NM_001040436.3(YARS2):c.1026G>A (p.Arg342=)	rs35339227	0.02168
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=)	rs35445420	0.02143
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp)	rs11555096	0.02131
NM_000051.4(ATM):c.5497-8T>C	rs3092829	0.02129
NM_000186.4(CFH):c.3176T>C (p.Ile1059Thr)	rs35343172	0.02118
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=)	rs28730712	0.02116
NM_133433.4(NIPBL):c.4561-9T>A	rs79924167	0.02103
NM_000379.4(XDH):c.1134C>T (p.Gly378=)	rs45612738	0.02057
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly)	rs72648982	0.02056
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr)	rs41281316	0.02047
NM_018136.5(ASPM):c.*60C>T	rs1537318	0.02044
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=)	rs56034831	0.02043
NM_000379.4(XDH):c.1184A>T (p.Lys395Met)	rs34929837	0.02021
NM_001267550.2(TTN):c.86811A>G (p.Val28937=)	rs55972010	0.02018
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=)	rs11694623	0.01999
NM_012434.5(SLC17A5):c.1111+7G>A	rs146729568	0.01982
NM_001148.6(ANK2):c.9900C>A (p.Ser3300Arg)	rs34270799	0.01942
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr)	rs35274867	0.01924
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser)	rs72650006	0.01912
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu)	rs111033381	0.01895
NM_005105.5(RBM8A):c.-21G>A	rs139428292	0.01871
NM_000379.4(XDH):c.3084C>T (p.Gly1028=)	rs45604135	0.01858
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=)	rs72648983	0.01842
NM_018136.5(ASPM):c.2419+12G>A	rs77191836	0.01806
NM_005138.2(SCO2):c.-142G>C	rs145052206	0.01794
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn)	rs28730701	0.01764
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp)	rs41278174	0.01757
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile)	rs61340537	0.01730
NM_022124.6(CDH23):c.7467C>T (p.Arg2489=)	rs111033289	0.01726
NM_000512.5(GALNS):c.240G>A (p.Ser80=)	rs11865929	0.01724
NM_019032.6(ADAMTSL4):c.3083G>A (p.Arg1028His)	rs56411234	0.01715
NM_030787.4(CFHR5):c.1067G>A (p.Arg356His)	rs35662416	0.01713
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys)	rs77697105	0.01678
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)	rs1800095	0.01670
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys)	rs72648987	0.01659
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile)	rs72647851	0.01643
NM_201253.3(CRB1):c.2128+15A>C	rs75691013	0.01643
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly)	rs17853166	0.01640
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val)	rs11568438	0.01617
NM_000546.6(TP53):c.993+12T>C	rs1800899	0.01614
NM_000243.3(MEFV):c.*133G>A	rs2075849	0.01591
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)	rs11466023	0.01590
NM_000186.4(CFH):c.477T>C (p.Ser159=)	rs34940854	0.01586
NM_000069.3(CACNA1S):c.3525+18C>T	rs56021911	0.01583
NM_000271.5(NPC1):c.1947+14G>T	rs3745024	0.01574
NM_001171.6(ABCC6):c.3507-3C>T	rs41278172	0.01548
NM_002160.4(TNC):c.3353G>A (p.Arg1118Gln)	rs61738263	0.01534
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=)	rs5216	0.01521
NM_000186.4(CFH):c.245-7G>A	rs35814900	0.01517
NM_018136.5(ASPM):c.5821T>C (p.Cys1941Arg)	rs61249253	0.01514
NM_018136.5(ASPM):c.7787T>C (p.Val2596Ala)	rs79572771	0.01514
NM_001384474.1(LOXHD1):c.1876G>T (p.Gly626Cys)	rs34589386	0.01503
NM_030787.4(CFHR5):c.507C>T (p.Asp169=)	rs34533956	0.01500
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe)	rs33917087	0.01497
NM_000520.6(HEXA):c.672+30T>G	rs117160567	0.01494
NM_000202.8(IDS):c.641C>T (p.Thr214Met)	rs61736892	0.01492
NM_013275.6(ANKRD11):c.6924C>T (p.Gly2308=)	rs146575027	0.01487
NM_002160.4(TNC):c.6006G>A (p.Leu2002=)	rs61736828	0.01478
NM_000186.4(CFH):c.1652T>C (p.Ile551Thr)	rs35453854	0.01471
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys)	rs2229291	0.01469
NM_025099.6(CTC1):c.1025A>G (p.Asp342Gly)	rs78390421	0.01469
NM_001253852.3(AP4B1):c.1365T>C (p.Tyr455=)	rs114201291	0.01466
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=)	rs61749202	0.01463
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)	rs11466024	0.01456
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His)	rs56307213	0.01453
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg)	rs1800057	0.01452
NM_206933.4(USH2A):c.2109T>C (p.Asp703=)	rs45555435	0.01452
NM_030787.4(CFHR5):c.254-8T>G	rs114023763	0.01451
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)	rs121908120	0.01412
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr)	rs36043230	0.01390
NM_018136.5(ASPM):c.2751C>T (p.Ala917=)	rs33987824	0.01382
NM_030787.4(CFHR5):c.330A>C (p.Val110=)	rs61745675	0.01356
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg)	rs118203576	0.01347
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp)	rs56038610	0.01345
NM_000237.3(LPL):c.953A>G (p.Asn318Ser)	rs268	0.01327
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys)	rs56324595	0.01324
NM_000037.4(ANK1):c.3224C>T (p.Thr1075Ile)	rs35213384	0.01323
NM_000186.4(CFH):c.2236+8T>A	rs7537967	0.01319
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp)	rs35730265	0.01315
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr)	rs78183930	0.01302
NM_015046.7(SETX):c.6507G>A (p.Gly2169=)	rs34073320	0.01300
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr)	rs41303285	0.01295
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=)	rs8175351	0.01289
NM_001232.4(CASQ2):c.226G>A (p.Val76Met)	rs10801999	0.01289
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val)	rs3759873	0.01282
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln)	rs55742743	0.01280
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys)	rs72646869	0.01270
NM_019032.6(ADAMTSL4):c.3139C>A (p.Arg1047=)	rs113799188	0.01266
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys)	rs116676813	0.01242
NM_000546.6(TP53):c.639A>G (p.Arg213=)	rs1800372	0.01238
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)	rs68080670	0.01231
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=)	rs111033230	0.01192
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=)	rs55977045	0.01192
NM_000552.5(VWF):c.2771G>A (p.Arg924Gln)	rs33978901	0.01188
NM_001367561.1(DOCK7):c.2471T>C (p.Ile824Thr)	rs35400360	0.01182
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val)	rs72647877	0.01178
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=)	rs34749281	0.01175
NM_000037.4(ANK1):c.2211C>G (p.Pro737=)	rs34194642	0.01174
NM_002506.3(NGF):c.239G>A (p.Arg80Gln)	rs11466111	0.01173
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg)	rs17355460	0.01172
NM_001267550.2(TTN):c.1398+8C>T	rs72647848	0.01171
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg)	rs55801134	0.01166
NM_006623.4(PHGDH):c.318C>T (p.Ala106=)	rs115747918	0.01154
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro)	rs62621206	0.01151
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr)	rs55880440	0.01150
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met)	rs41281330	0.01149
NM_001379286.1(ZNF423):c.3361G>A (p.Ala1121Thr)	rs147898137	0.01146
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=)	rs114145817	0.01143
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=)	rs67041405	0.01136
NM_000037.4(ANK1):c.3813G>A (p.Glu1271=)	rs16890758	0.01135
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr)	rs72646809	0.01131
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=)	rs72648935	0.01116
NM_000037.4(ANK1):c.489C>T (p.Leu163=)	rs34173100	0.01106
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile)	rs72650028	0.01102
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu)	rs77853750	0.01096
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met)	rs55865284	0.01093
NM_001256864.2(DNAJC6):c.1456C>T (p.Leu486Phe)	rs78141380	0.01089
NM_006623.4(PHGDH):c.792+6T>G	rs146953046	0.01087
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr)	rs36049418	0.01075
NM_004628.5(XPC):c.1362T>C (p.Asp454=)	rs3731128	0.01075
NM_030787.4(CFHR5):c.136C>T (p.Pro46Ser)	rs12097550	0.01068
NM_004525.3(LRP2):c.13134C>G (p.Pro4378=)	rs73970129	0.01063
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)	rs2230288	0.01061
NM_000289.6(PFKM):c.2087G>A (p.Arg696His)	rs41291971	0.01058
NM_001371928.1(AHDC1):c.2634C>T (p.Ala878=)	rs60039430	0.01056
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)	rs80358251	0.01055
NM_031935.3(HMCN1):c.12941T>C (p.Val4314Ala)	rs79183244	0.01053
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=)	rs719202	0.01042
NM_001918.5(DBT):c.1281+6T>G	rs140115881	0.01042
NM_012203.2(GRHPR):c.963G>A (p.Pro321=)	rs76299266	0.01042
NM_001367561.1(DOCK7):c.1460A>G (p.Lys487Arg)	rs72913293	0.01039
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser)	rs67254537	0.01037
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val)	rs66961115	0.01037
NM_001184.4(ATR):c.891G>C (p.Lys297Asn)	rs2229033	0.01036
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)	rs34885143	0.01036
NM_000098.3(CPT2):c.1767G>A (p.Thr589=)	rs77565483	0.01032
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=)	rs73036373	0.01031
NM_004525.3(LRP2):c.5293G>A (p.Val1765Met)	rs116456291	0.01031
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)	rs11466045	0.01021
NM_004525.3(LRP2):c.9033-8T>C	rs140148483	0.01021
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met)	rs73038314	0.01013
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly)	rs72648951	0.01012
NM_000512.5(GALNS):c.*3C>G	rs77826920	0.01005
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile)	rs72646850	0.00987
NM_019032.6(ADAMTSL4):c.2906C>A (p.Ala969Asp)	rs150225445	0.00984
NM_014363.6(SACS):c.12762C>T (p.Ser4254=)	rs11554397	0.00978
NM_000546.6(TP53):c.108G>A (p.Pro36=)	rs1800370	0.00974
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln)	rs34819099	0.00971
NM_201253.3(CRB1):c.2677-8C>T	rs73071678	0.00970
NM_001379286.1(ZNF423):c.711C>T (p.Arg237=)	rs16947744	0.00969
NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr)	rs34270473	0.00969
NM_019032.6(ADAMTSL4):c.2121G>A (p.Ala707=)	rs41317525	0.00968
NM_001184.4(ATR):c.6339A>G (p.Val2113=)	rs7635479	0.00964
NM_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr)	rs78253373	0.00962
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile)	rs35530544	0.00961
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln)	rs112545413	0.00960
NM_001267550.2(TTN):c.17741-9A>G	rs72648944	0.00958
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu)	rs1007211	0.00957
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu)	rs74518295	0.00953
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)	rs74374973	0.00953
NM_018136.5(ASPM):c.7917A>G (p.Lys2639=)	rs112647911	0.00953
NM_018136.5(ASPM):c.7353G>A (p.Leu2451=)	rs111487086	0.00949
NM_001164508.2(NEB):c.21044C>G (p.Ser7015Cys)	rs62167164	0.00935
NM_014363.6(SACS):c.10305T>C (p.Ser3435=)	rs35670472	0.00933
NM_000546.6(TP53):c.1100+30A>T	rs17880847	0.00929
NM_000553.6(WRN):c.2241T>G (p.Leu747=)	rs2230011	0.00921
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=)	rs62178963	0.00915
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala)	rs58238559	0.00914
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)	rs138611001	0.00910
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu)	rs72629787	0.00909
NM_001267550.2(TTN):c.82575G>A (p.Thr27525=)	rs11896779	0.00905
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=)	rs61734313	0.00902
NM_025099.6(CTC1):c.2973T>C (p.Tyr991=)	rs62637613	0.00896
NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu)	rs62637610	0.00894
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr)	rs61995747	0.00892
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile)	rs115970214	0.00892
NM_015346.4(ZFYVE26):c.1844C>T (p.Ser615Phe)	rs117228915	0.00888
NM_000492.4(CFTR):c.1210-11T>G	rs73715573	0.00886
NM_004525.3(LRP2):c.11346C>T (p.Asn3782=)	rs7598640	0.00882
NM_025137.4(SPG11):c.4810T>C (p.Phe1604Leu)	rs116807842	0.00877
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn)	rs142356235	0.00873
NM_018136.5(ASPM):c.8820+7C>G	rs115045814	0.00865
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln)	rs17885240	0.00863
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu)	rs1800056	0.00861
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr)	rs11807956	0.00858
NM_000310.4(PPT1):c.*3C>A	rs150454815	0.00852
NM_001171.6(ABCC6):c.3289C>A (p.Leu1097Ile)	rs60707953	0.00849
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile)	rs2229968	0.00847
NM_000243.3(MEFV):c.1503C>T (p.Arg501=)	rs76464258	0.00846
NM_001918.5(DBT):c.724T>C (p.Ser242Pro)	rs146249007	0.00844
NM_000033.4(ABCD1):c.901-16C>T	rs41302176	0.00840
NM_001267550.2(TTN):c.33340+10T>C	rs72650039	0.00830
NM_000186.4(CFH):c.2634C>T (p.His878=)	rs35292876	0.00829
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys)	rs55861600	0.00828
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=)	rs72646893	0.00826
NM_001267550.2(TTN):c.79689C>A (p.Val26563=)	rs10185798	0.00826
NM_015346.4(ZFYVE26):c.2826G>A (p.Met942Ile)	rs117367857	0.00826
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr)	rs36210417	0.00822
NM_001365088.1(SLC12A6):c.408T>C (p.Phe136=)	rs145186782	0.00819
NM_001148.6(ANK2):c.3379+12T>G	rs139528815	0.00812
NM_018136.5(ASPM):c.5185C>T (p.Arg1729Trp)	rs41299623	0.00808
NM_001083961.2(WDR62):c.2991C>T (p.Ala997=)	rs77898819	0.00804
NM_022356.4(P3H1):c.2055+70G>T	rs115690038	0.00802
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=)	rs56310931	0.00799
NM_025137.4(SPG11):c.808G>A (p.Val270Ile)	rs80338868	0.00799
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=)	rs55806007	0.00798
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe)	rs62109744	0.00795
NM_019032.6(ADAMTSL4):c.803C>T (p.Ser268Phe)	rs41317517	0.00795
NM_003640.5(ELP1):c.1758T>G (p.Pro586=)	rs35054425	0.00792
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile)	rs61750974	0.00790
NM_000110.4(DPYD):c.1371C>T (p.Asn457=)	rs57918000	0.00785
NM_000546.6(TP53):c.97-6C>T	rs35117667	0.00785
NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=)	rs58668703	0.00784
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu)	rs115658240	0.00782
NM_014915.3(ANKRD26):c.3655G>A (p.Val1219Ile)	rs146819984	0.00781
NM_018136.5(ASPM):c.7565T>G (p.Leu2522Ter)	rs62624965	0.00780
NM_001184.4(ATR):c.268C>T (p.His90Tyr)	rs28897763	0.00778
NM_000512.5(GALNS):c.723C>T (p.Ala241=)	rs117053987	0.00774
NM_018136.5(ASPM):c.10162-7T>A	rs141402675	0.00774
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn)	rs114402911	0.00770
NM_030787.4(CFHR5):c.1704T>A (p.Cys568Ter)	rs143140599	0.00764
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=)	rs116660078	0.00763
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His)	rs59887778	0.00758
NM_001267550.2(TTN):c.42219C>T (p.Phe14073=)	rs150612172	0.00757
NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg)	rs77583146	0.00755
NM_000186.4(CFH):c.3102T>C (p.Asn1034=)	rs34594237	0.00750
NM_015346.4(ZFYVE26):c.6229G>A (p.Gly2077Arg)	rs140540720	0.00750
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)	rs35799469	0.00744
NM_000642.3(AGL):c.1481G>A (p.Arg494His)	rs141043166	0.00743
NM_000202.8(IDS):c.418+12T>C	rs470986	0.00736
NM_000481.4(AMT):c.631G>A (p.Glu211Lys)	rs116192290	0.00735
NM_144988.4(ALG14):c.31G>A (p.Ala11Thr)	rs34364382	0.00735
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=)	rs35593170	0.00731
NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His)	rs35856559	0.00730
NM_001171.6(ABCC6):c.2707G>C (p.Glu903Gln)	rs60712230	0.00729
NM_002506.3(NGF):c.214G>A (p.Val72Met)	rs11466110	0.00727
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr)	rs138787974	0.00725
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=)	rs74321406	0.00724
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg)	rs72648927	0.00722
NM_001365999.1(SZT2):c.2631C>T (p.Thr877=)	rs140831372	0.00717
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)	rs1800054	0.00712
NM_000512.5(GALNS):c.775C>A (p.Arg259=)	rs61742258	0.00707
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)	rs34677591	0.00706
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro)	rs61326562	0.00706
NM_014363.6(SACS):c.6069C>T (p.Asn2023=)	rs35369023	0.00706
NM_014363.6(SACS):c.5502G>C (p.Leu1834=)	rs34389000	0.00705
NM_000186.4(CFH):c.1159+19T>G	rs35695425	0.00703
NM_001267550.2(TTN):c.24579A>G (p.Thr8193=)	rs72648979	0.00702
NM_001267550.2(TTN):c.24160A>T (p.Ile8054Leu)	rs72648976	0.00701
NM_006939.4(SOS2):c.3489+19C>T	rs149825446	0.00700
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=)	rs12474306	0.00697
NM_001267550.2(TTN):c.56529G>A (p.Thr18843=)	rs72646827	0.00697
NM_001267550.2(TTN):c.32722+9G>A	rs148231130	0.00695
NM_001164508.2(NEB):c.2832C>T (p.Ser944=)	rs114076205	0.00690
NM_004525.3(LRP2):c.10403C>T (p.Pro3468Leu)	rs143367996	0.00689
NM_030787.4(CFHR5):c.832G>A (p.Gly278Ser)	rs139017763	0.00689
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly)	rs113671330	0.00689
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn)	rs61753611	0.00688
NM_030632.3(ASXL3):c.6200T>G (p.Leu2067Arg)	rs144534810	0.00679
NM_000453.3(SLC5A5):c.839+11C>T	rs182064161	0.00677
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln)	rs41281338	0.00677
NM_000098.3(CPT2):c.302C>T (p.Ala101Val)	rs75939866	0.00675
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)	rs74653330	0.00674
NM_001374828.1(ARID1B):c.5576A>C (p.Glu1859Ala)	rs149518409	0.00673
NM_005633.4(SOS1):c.*3458A>C	rs114232209	0.00673
NM_001148.6(ANK2):c.2377-8C>T	rs139893914	0.00672
NM_001267550.2(TTN):c.81057T>C (p.Thr27019=)	rs114908705	0.00671
NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=)	rs149416418	0.00671
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=)	rs7811324	0.00669
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=)	rs72648258	0.00667
NM_000210.4(ITGA6):c.2247C>G (p.Val749=)	rs61748247	0.00663
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile)	rs138127778	0.00658
NM_000271.5(NPC1):c.2661G>A (p.Pro887=)	rs9949660	0.00656
NM_001267550.2(TTN):c.45083-10A>G	rs72677222	0.00656
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=)	rs34562585	0.00654
NM_001267550.2(TTN):c.24345C>T (p.Ser8115=)	rs72648977	0.00653
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val)	rs61548169	0.00649
NM_018136.5(ASPM):c.3742-10T>G	rs41299587	0.00649
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu)	rs80340744	0.00645
NM_001099922.3(ALG13):c.1152G>A (p.Ala384=)	rs145353928	0.00643
NM_022124.6(CDH23):c.8980-14C>A	rs45522532	0.00642
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys)	rs28626194	0.00641
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)	rs45439799	0.00640
NM_015046.7(SETX):c.59G>A (p.Arg20His)	rs79740039	0.00639
NM_030632.3(ASXL3):c.3324T>G (p.Ala1108=)	rs77617474	0.00638
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg)	rs148632988	0.00638
NM_025137.4(SPG11):c.2621-15T>G	rs188590034	0.00637
NM_000337.6(SGCD):c.507G>A (p.Ala169=)	rs10071079	0.00635
NM_001205293.3(CACNA1E):c.3065C>T (p.Thr1022Met)	rs74127835	0.00634
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly)	rs146983095	0.00634
NM_001267550.2(TTN):c.99111T>C (p.Tyr33037=)	rs77257306	0.00632
NM_001042492.3(NF1):c.3496+19T>C	rs9890283	0.00628
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)	rs75548401	0.00627
NM_000553.6(WRN):c.1953C>T (p.Gly651=)	rs11574263	0.00627
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)	rs1800100	0.00625
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val)	rs72648244	0.00625
NM_006623.4(PHGDH):c.595C>G (p.Leu199Val)	rs77632964	0.00622
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=)	rs56174006	0.00618
NM_000275.3(OCA2):c.574-19A>G	rs145242923	0.00618
NM_000152.5(GAA):c.852G>A (p.Ala284=)	rs142626724	0.00616
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu)	rs41308435	0.00614
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr)	rs56128843	0.00613
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=)	rs56345408	0.00611
NM_004525.3(LRP2):c.923-6G>A	rs144147038	0.00611
NM_001267550.2(TTN):c.42156C>T (p.Ile14052=)	rs76815324	0.00610
NM_000368.5(TSC1):c.2626-3C>T	rs1060503192	0.00608
NM_030787.4(CFHR5):c.429T>C (p.Thr143=)	rs140215003	0.00608
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=)	rs76771282	0.00607
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe)	rs61749895	0.00606
NM_000337.6(SGCD):c.294+8T>C	rs11748588	0.00606
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys)	rs56056328	0.00606
NM_000527.5(LDLR):c.2389+57C>T	rs145293532	0.00605
NM_001367561.1(DOCK7):c.4696G>A (p.Gly1566Ser)	rs147103646	0.00601
NM_001267550.2(TTN):c.45350-13T>C	rs113084617	0.00600
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile)	rs145125791	0.00600
NM_000521.4(HEXB):c.1051T>C (p.Leu351=)	rs114661695	0.00599
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr)	rs114026724	0.00598
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)	rs147099630	0.00597
NM_018136.5(ASPM):c.3741+3A>G	rs138558822	0.00594
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser)	rs16866477	0.00593
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=)	rs115070904	0.00590
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser)	rs114832250	0.00587
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu)	rs116307796	0.00586
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala)	rs56385601	0.00586
NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr)	rs72648946	0.00585
NM_000455.5(STK11):c.369G>A (p.Gln123=)	rs140112347	0.00584
NM_032520.5(GNPTG):c.255G>A (p.Pro85=)	rs76594024	0.00583
NM_001130438.3(SPTAN1):c.3520-14C>G	rs142682344	0.00575
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala)	rs45479896	0.00575
NM_000069.3(CACNA1S):c.4668+19T>C	rs140742077	0.00573
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)	rs142645936	0.00573
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)	rs34911792	0.00573
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly)	rs72646885	0.00573
NM_031418.4(ANO3):c.1968C>T (p.Ile656=)	rs149050831	0.00572
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=)	rs72896268	0.00571
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)	rs1800118	0.00570
NM_015046.7(SETX):c.*319C>T	rs1056912	0.00570
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)	rs138036823	0.00569
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)	rs17233141	0.00567
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=)	rs72646857	0.00566
NM_002529.4(NTRK1):c.1728C>T (p.Phe576=)	rs6335	0.00563
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn)	rs35865691	0.00562
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met)	rs34355135	0.00561
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe)	rs151296605	0.00559
NM_001267550.2(TTN):c.24471C>T (p.Gly8157=)	rs113391261	0.00559
NM_000069.3(CACNA1S):c.-68T>C	rs140748567	0.00558
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met)	rs73973147	0.00558
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met)	rs35256065	0.00558
NM_001126108.2(SLC12A3):c.2857-6G>A	rs117981500	0.00557
NM_000069.3(CACNA1S):c.252C>T (p.Leu84=)	rs112868209	0.00555
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser)	rs55638457	0.00545
NM_001365.4(DLG4):c.-1072A>G	rs77051465	0.00545
NM_003982.4(SLC7A7):c.1119G>A (p.Leu373=)	rs1805062	0.00544
NM_000037.4(ANK1):c.1999-17C>T	rs28571216	0.00543
NM_000546.6(TP53):c.672+31A>G	rs34949160	0.00543
NM_001360.3(DHCR7):c.1008C>T (p.His336=)	rs75225632	0.00542
NM_000379.4(XDH):c.1857-4G>A	rs17395175	0.00541
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His)	rs72677237	0.00536
NM_001282531.3(ADNP):c.2475G>T (p.Gly825=)	rs148502910	0.00534
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr)	rs140916001	0.00534
NM_002529.4(NTRK1):c.2272G>A (p.Ala758Thr)	rs62640939	0.00534
NM_001267550.2(TTN):c.39709+6C>T	rs72650067	0.00533
NM_000642.3(AGL):c.4430C>G (p.Thr1477Ser)	rs78348923	0.00530
NM_005609.4(PYGM):c.645G>A (p.Lys215=)	rs116315896	0.00530
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile)	rs34139502	0.00524
NM_000486.6(AQP2):c.39G>A (p.Val13=)	rs61733029	0.00523
NM_001126108.2(SLC12A3):c.774C>T (p.Asn258=)	rs111578437	0.00523
NM_002617.4(PEX10):c.6C>G (p.Ala2=)	rs112471479	0.00523
NM_000137.4(FAH):c.315-14G>A	rs139830755	0.00521
NM_000360.4(TH):c.267G>A (p.Arg89=)	rs76240471	0.00521
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)	rs1800098	0.00519
NM_000553.6(WRN):c.1725T>C (p.Tyr575=)	rs13438802	0.00516
NM_000642.3(AGL):c.3758G>A (p.Arg1253His)	rs12043139	0.00515
NM_015046.7(SETX):c.4755T>G (p.Pro1585=)	rs151237267	0.00515
NM_001148.6(ANK2):c.2278-11G>A	rs146312675	0.00513
NM_014363.6(SACS):c.1593C>T (p.Ile531=)	rs113756713	0.00513
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)	rs1800361	0.00511
NM_152618.3(BBS12):c.1103G>A (p.Arg368His)	rs78457123	0.00511
NM_015346.4(ZFYVE26):c.7586C>G (p.Pro2529Arg)	rs143198225	0.00510
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=)	rs13440710	0.00508
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)	rs104895094	0.00506
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)	rs146722795	0.00506
NM_000053.4(ATP7B):c.3403G>A (p.Ala1135Thr)	rs187200982	0.00499
NM_001267550.2(TTN):c.42024+6T>C	rs140002940	0.00497
NM_025137.4(SPG11):c.4687A>G (p.Arg1563Gly)	rs75430389	0.00497
NM_001253852.3(AP4B1):c.240A>G (p.Pro80=)	rs34249695	0.00495
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)	rs121908954	0.00491
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser)	rs200642629	0.00491
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)	rs113013085	0.00490
NM_000379.4(XDH):c.3405-15T>C	rs141728694	0.00486
NM_000243.3(MEFV):c.2163C>T (p.Phe721=)	rs11466047	0.00484
NM_000379.4(XDH):c.3951+14C>G	rs201055814	0.00484
NM_022367.4(SEMA4A):c.1434+12C>A	rs114835695	0.00483
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=)	rs11904444	0.00481
NM_000553.6(WRN):c.1788T>C (p.Ser596=)	rs13438803	0.00477
NM_000255.4(MMUT):c.1629C>T (p.Ser543=)	rs150642856	0.00476
NM_000069.3(CACNA1S):c.*310A>T	rs190783634	0.00475
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu)	rs72648984	0.00473
NM_001367624.2(ZNF469):c.62G>A (p.Arg21His)	rs145178398	0.00473
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala)	rs146292575	0.00472
NM_006015.6(ARID1A):c.6586C>T (p.Leu2196=)	rs149633292	0.00468
NM_004525.3(LRP2):c.3659C>T (p.Ala1220Val)	rs144723964	0.00467
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=)	rs142131750	0.00466
NM_031935.3(HMCN1):c.7818C>T (p.Thr2606=)	rs138332626	0.00466
NM_024426.6(WT1):c.1114-9T>C	rs5030274	0.00465
NM_000359.3(TGM1):c.365C>T (p.Ser122Leu)	rs141486741	0.00463
NM_000379.4(XDH):c.1751A>C (p.Asp584Ala)	rs45491693	0.00463
NM_001182.5(ALDH7A1):c.1009-6G>A	rs138056453	0.00463
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=)	rs76081119	0.00462
NM_000108.5(DLD):c.543A>T (p.Ile181=)	rs61749952	0.00461
NM_001171.6(ABCC6):c.3883-24G>A	rs59513011	0.00461
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser)	rs144922355	0.00460
NM_000243.3(MEFV):c.1759+8C>T	rs77380520	0.00459
NM_000379.4(XDH):c.3937A>G (p.Lys1313Glu)	rs141335716	0.00456
NM_000098.3(CPT2):c.1578T>C (p.Gly526=)	rs113493395	0.00455
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala)	rs61757684	0.00449
NM_025137.4(SPG11):c.4923G>C (p.Lys1641Asn)	rs150218102	0.00449
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn)	rs116567963	0.00447
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=)	rs34211419	0.00447
NM_001253852.3(AP4B1):c.1189A>G (p.Ile397Val)	rs145182838	0.00445
NM_022455.5(NSD1):c.1690G>T (p.Ala564Ser)	rs116520623	0.00445
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg)	rs61759485	0.00445
NM_030787.4(CFHR5):c.243G>A (p.Pro81=)	rs7532068	0.00444
NM_001267550.2(TTN):c.3668C>T (p.Ala1223Val)	rs78269740	0.00443
NM_001365999.1(SZT2):c.8910C>T (p.Ser2970=)	rs116536134	0.00441
NM_013275.6(ANKRD11):c.744+18C>G	rs147328392	0.00441
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)	rs1801673	0.00439
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser)	rs61750615	0.00437
NM_004628.5(XPC):c.1443G>T (p.Lys481Asn)	rs182616621	0.00437
NM_014915.3(ANKRD26):c.4445T>C (p.Ile1482Thr)	rs80097260	0.00437
NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg)	rs73928330	0.00436
NM_000069.3(CACNA1S):c.2745+14C>T	rs74138824	0.00433
NM_001267550.2(TTN):c.33742+11A>G	rs72650042	0.00433
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)	rs2227922	0.00431
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val)	rs72650029	0.00431
NM_014244.5(ADAMTS2):c.1458C>T (p.Tyr486=)	rs61757478	0.00427
NM_031935.3(HMCN1):c.11556A>T (p.Ser3852=)	rs144346158	0.00426
NM_014363.6(SACS):c.12597A>G (p.Pro4199=)	rs112630127	0.00422
NM_015166.4(MLC1):c.279G>A (p.Ser93=)	rs11568172	0.00422
NM_000359.3(TGM1):c.1113C>T (p.Ser371=)	rs61747601	0.00421
NM_005633.4(SOS1):c.*3569T>C	rs115465194	0.00421
NM_024426.6(WT1):c.*16G>T	rs2234594	0.00421
NM_000359.3(TGM1):c.168G>A (p.Ala56=)	rs79251149	0.00420
NM_001126108.2(SLC12A3):c.249G>T (p.Arg83=)	rs76750525	0.00420
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg)	rs45549044	0.00420
NM_000553.6(WRN):c.4015G>A (p.Val1339Ile)	rs11574395	0.00418
NM_014363.6(SACS):c.11688G>A (p.Arg3896=)	rs116791509	0.00417
NM_032861.4(SERAC1):c.1134C>T (p.Gly378=)	rs116763934	0.00417
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu)	rs35811023	0.00416
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg)	rs72681869	0.00416
NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys)	rs201487340	0.00415
NM_014363.6(SACS):c.10821C>A (p.Ile3607=)	rs113595574	0.00415
NM_001083961.2(WDR62):c.1225A>G (p.Asn409Asp)	rs146180912	0.00414
NM_004525.3(LRP2):c.7917A>C (p.Gly2639=)	rs144126440	0.00414
NM_032861.4(SERAC1):c.440C>T (p.Thr147Met)	rs114443105	0.00411
NM_001184.4(ATR):c.1328G>C (p.Arg443Thr)	rs28367453	0.00410
NM_032861.4(SERAC1):c.1155A>G (p.Gln385=)	rs116173262	0.00410
NM_000069.3(CACNA1S):c.3953+7G>A	rs141071505	0.00409
NM_001267550.2(TTN):c.59165T>C (p.Val19722Ala)	rs116592778	0.00406
NM_001267550.2(TTN):c.101697C>T (p.Asp33899=)	rs114267234	0.00405
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)	rs188164241	0.00405
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu)	rs112454391	0.00404
NM_001130438.3(SPTAN1):c.652-6G>A	rs115815276	0.00403
NM_015046.7(SETX):c.7371T>C (p.His2457=)	rs113071480	0.00399
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu)	rs74315344	0.00398
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn)	rs12344006	0.00398
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=)	rs56151652	0.00397
NM_000186.4(CFH):c.3050C>T (p.Thr1017Ile)	rs34362004	0.00395
NM_001099922.3(ALG13):c.3039A>G (p.Val1013=)	rs183032531	0.00394
NM_206933.4(USH2A):c.8458G>A (p.Val2820Ile)	rs59174500	0.00394
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224	0.00393
NM_001267550.2(TTN):c.25008C>T (p.Cys8336=)	rs116378128	0.00391
NM_001385875.1(ZFYVE27):c.62C>T (p.Ala21Val)	rs140812293	0.00388
NM_001184.4(ATR):c.423T>C (p.Ile141=)	rs10935466	0.00386
NM_001184.4(ATR):c.4764C>T (p.Leu1588=)	rs142240637	0.00386
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=)	rs111033516	0.00386
NM_030787.4(CFHR5):c.1586T>G (p.Leu529Arg)	rs16840956	0.00386
NM_004525.3(LRP2):c.13620+14C>G	rs142018904	0.00384
NM_001042492.3(NF1):c.-22G>C	rs556823296	0.00381
NM_001148.6(ANK2):c.4744C>T (p.Arg1582Trp)	rs35249198	0.00379
NM_022124.6(CDH23):c.9510+13C>T	rs183692794	0.00379
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp)	rs80358350	0.00379
NM_000022.4(ADA):c.425G>A (p.Arg142Gln)	rs61732239	0.00376
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	rs104894313	0.00375
NM_000202.8(IDS):c.754G>A (p.Asp252Asn)	rs146458524	0.00372
NM_001201543.2(FAM161A):c.197C>T (p.Thr66Ile)	rs145199539	0.00372
NM_020366.4(RPGRIP1):c.2878G>C (p.Ala960Pro)	rs35810926	0.00369
NM_030787.4(CFHR5):c.254-5C>T	rs185709089	0.00368
NM_003060.4(SLC22A5):c.1249A>G (p.Met417Val)	rs139775414	0.00365
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr)	rs142923613	0.00365
NM_133433.4(NIPBL):c.6109-3T>C	rs145778995	0.00363
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=)	rs61733679	0.00362
NM_000152.5(GAA):c.447G>A (p.Thr149=)	rs2289536	0.00362
NM_003060.4(SLC22A5):c.59T>A (p.Leu20His)	rs144020613	0.00362
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile)	rs76675748	0.00361
NM_001394062.1(MACF1):c.3450G>A (p.Lys1150=)	rs147586507	0.00361
NM_001205293.3(CACNA1E):c.1308C>G (p.Ser436=)	rs114088252	0.00360
NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val)	rs114734921	0.00358
NM_000033.4(ABCD1):c.696G>T (p.Ala232=)	rs147595334	0.00357
NM_001267550.2(TTN):c.7740T>G (p.Ile2580Met)	rs146590898	0.00354
NM_025137.4(SPG11):c.64A>G (p.Met22Val)	rs34255962	0.00354
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_000455.5(STK11):c.1062C>G (p.Phe354Leu)	rs59912467	0.00348
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys)	rs72646861	0.00347
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)	rs28383481	0.00347
NM_014363.6(SACS):c.171+13C>T	rs374672041	0.00347
NM_031935.3(HMCN1):c.7515G>T (p.Gly2505=)	rs41317479	0.00347
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser)	rs118203518	0.00346
NM_000379.4(XDH):c.397G>A (p.Glu133Lys)	rs45447191	0.00346
NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp)	rs28910273	0.00344
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser)	rs80132141	0.00343
NM_004525.3(LRP2):c.149C>G (p.Thr50Ser)	rs114460450	0.00342
NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala)	rs61741040	0.00340
NM_000243.3(MEFV):c.333G>A (p.Gly111=)	rs61732425	0.00339
NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala)	rs2306618	0.00338
NM_000191.3(HMGCL):c.61-17C>T	rs56913973	0.00337
NM_031935.3(HMCN1):c.114G>T (p.Gly38=)	rs115169621	0.00337
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp)	rs143179070	0.00336
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)	rs121909046	0.00335
NM_003060.4(SLC22A5):c.1590G>T (p.Met530Ile)	rs148233131	0.00335
NM_004924.6(ACTN4):c.1218C>A (p.Arg406=)	rs148259739	0.00334
NM_031935.3(HMCN1):c.7494G>A (p.Thr2498=)	rs148467349	0.00333
NM_031935.3(HMCN1):c.1152A>G (p.Lys384=)	rs151284138	0.00331
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)	rs138427376	0.00329
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)	rs55680026	0.00329
NM_000379.4(XDH):c.3271G>C (p.Val1091Leu)	rs45619033	0.00328
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)	rs111540787	0.00328
NM_004525.3(LRP2):c.6967C>T (p.Leu2323=)	rs149367019	0.00326
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)	rs34382952	0.00326
NM_000512.5(GALNS):c.1443C>T (p.Pro481=)	rs147536058	0.00325
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=)	rs151080601	0.00325
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser)	rs139600783	0.00323
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)	rs1800546	0.00319
NM_000527.5(LDLR):c.1920C>T (p.Asn640=)	rs5926	0.00316
NM_004525.3(LRP2):c.403G>A (p.Asp135Asn)	rs142594441	0.00316
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val)	rs41306397	0.00315
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)	rs28935490	0.00315
NM_000053.4(ATP7B):c.3557-6C>T	rs140708492	0.00314
NM_001399.5(EDA):c.206G>T (p.Arg69Leu)	rs132630309	0.00312
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His)	rs142905621	0.00310
NM_032861.4(SERAC1):c.62C>T (p.Pro21Leu)	rs147194699	0.00309
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met)	rs73003348	0.00308
NM_000536.4(RAG2):c.22G>A (p.Val8Ile)	rs150762709	0.00307
NM_000410.4(HFE):c.189T>C (p.His63=)	rs147426902	0.00305
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=)	rs17887014	0.00305
NM_018136.5(ASPM):c.6775T>C (p.Leu2259=)	rs140922974	0.00304
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys)	rs111751379	0.00304
NM_000275.3(OCA2):c.1744C>T (p.Leu582=)	rs61751032	0.00302
NM_001918.5(DBT):c.76T>C (p.Cys26Arg)	rs145674833	0.00302
NM_001374828.1(ARID1B):c.3768C>T (p.Thr1256=)	rs142391292	0.00301
NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val)	rs111294536	0.00296
NM_004525.3(LRP2):c.5538+10C>T	rs115659204	0.00296
NM_005751.5(AKAP9):c.10858A>G (p.Ile3620Val)	rs142729919	0.00296
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro)	rs11466018	0.00293
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu)	rs36024203	0.00293
NM_031935.3(HMCN1):c.16623C>G (p.Leu5541=)	rs151256828	0.00293
NM_000152.5(GAA):c.917C>T (p.Ser306Leu)	rs138097673	0.00292
NM_007375.4(TARDBP):c.198T>C (p.Ala66=)	rs61730366	0.00292
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=)	rs55921307	0.00291
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=)	rs11840224	0.00287
NM_000396.4(CTSK):c.675A>G (p.Arg225=)	rs41271965	0.00287
NM_002529.4(NTRK1):c.2047-11G>A	rs79173278	0.00287
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)	rs148878361	0.00287
NM_000195.5(HPS1):c.1683C>T (p.Cys561=)	rs112337765	0.00284
NM_001042492.3(NF1):c.340C>T (p.Leu114=)	rs7207410	0.00283
NM_001267550.2(TTN):c.30426C>T (p.Asp10142=)	rs147524531	0.00283
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=)	rs61751546	0.00283
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)	rs60986317	0.00282
NM_001148.6(ANK2):c.10395G>A (p.Glu3465=)	rs147423696	0.00282
NM_031935.3(HMCN1):c.12771T>C (p.His4257=)	rs115171363	0.00282
NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser)	rs45576136	0.00281
NM_001371928.1(AHDC1):c.811C>G (p.Pro271Ala)	rs200660997	0.00281
NM_004525.3(LRP2):c.10937G>A (p.Arg3646His)	rs142549310	0.00281
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu)	rs112581563	0.00281
NM_004525.3(LRP2):c.92C>T (p.Ala31Val)	rs144829356	0.00280
NM_000057.4(BLM):c.1928G>A (p.Arg643His)	rs12720097	0.00279
NM_001367624.2(ZNF469):c.7611G>C (p.Glu2537Asp)	rs199519673	0.00279
NM_020366.4(RPGRIP1):c.218+13C>G	rs200225522	0.00279
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)	rs1800365	0.00275
NM_000548.5(TSC2):c.4006-8C>T	rs45517325	0.00275
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val)	rs145207584	0.00275
NM_003982.4(SLC7A7):c.720A>C (p.Ser240=)	rs151261004	0.00274
NM_000359.3(TGM1):c.2405A>T (p.Asp802Val)	rs2228337	0.00273
NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp)	rs139822086	0.00273
NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile)	rs202209699	0.00273
NM_005235.3(ERBB4):c.1122T>G (p.His374Gln)	rs76603692	0.00272
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe)	rs28390202	0.00270
NM_000186.4(CFH):c.428-14T>C	rs184188486	0.00269
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_024426.6(WT1):c.181C>A (p.Arg61=)	rs2234581	0.00269
NM_002529.4(NTRK1):c.1236C>T (p.Asp412=)	rs147438950	0.00268
NM_005751.5(AKAP9):c.2425A>G (p.Ile809Val)	rs144615758	0.00268
NM_000022.4(ADA):c.162G>A (p.Lys54=)	rs45557242	0.00267
NM_001148.6(ANK2):c.4152T>C (p.Asp1384=)	rs116128106	0.00267
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His)	rs181104321	0.00267
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=)	rs80358354	0.00267
NM_001148.6(ANK2):c.1401A>G (p.Ala467=)	rs142159132	0.00263
NM_000037.4(ANK1):c.5097-34C>T	rs185434561	0.00261
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala)	rs35238405	0.00261
NM_000158.4(GBE1):c.405C>T (p.Leu135=)	rs139882066	0.00259
NM_001148.6(ANK2):c.3543C>T (p.Ala1181=)	rs76685232	0.00259
NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln)	rs2075164	0.00259
NM_001367624.2(ZNF469):c.869C>T (p.Ala290Val)	rs117501524	0.00258
NM_001126108.2(SLC12A3):c.307C>T (p.Leu103=)	rs35005216	0.00257
NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=)	rs138609094	0.00257
NM_018136.5(ASPM):c.9996T>C (p.Thr3332=)	rs139927527	0.00253
NM_001256864.2(DNAJC6):c.194-18T>G	rs201249130	0.00252
NM_015046.7(SETX):c.*254C>T	rs11545230	0.00252
NM_031935.3(HMCN1):c.6708A>G (p.Pro2236=)	rs144191448	0.00252
NM_001148.6(ANK2):c.3366C>T (p.Asn1122=)	rs114896457	0.00251
NM_014915.3(ANKRD26):c.2332G>C (p.Glu778Gln)	rs139949439	0.00251
NM_000379.4(XDH):c.1629C>T (p.Phe543=)	rs140651875	0.00250
NM_001394062.1(MACF1):c.1799G>A (p.Arg600Gln)	rs139794027	0.00250
NM_004924.6(ACTN4):c.1608C>T (p.Arg536=)	rs139575917	0.00250
NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro)	rs76177450	0.00250
NM_030787.4(CFHR5):c.732C>T (p.Asn244=)	rs41306229	0.00250
NM_031935.3(HMCN1):c.13313-5C>T	rs184095385	0.00249
NM_000243.3(MEFV):c.1587+18C>T	rs11466030	0.00248
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn)	rs111033369	0.00248
NM_025132.4(WDR19):c.3183+9G>A	rs138318063	0.00248
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn)	rs150673589	0.00247
NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter)	rs149484917	0.00246
NM_001127671.2(LIFR):c.2447A>G (p.Asp816Gly)	rs74856317	0.00245
NM_001365088.1(SLC12A6):c.3042+8A>G	rs186141509	0.00245
NM_206933.4(USH2A):c.13404A>G (p.Arg4468=)	rs146994147	0.00245
NM_000186.4(CFH):c.3150T>C (p.Asn1050=)	rs113347629	0.00242
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)	rs148584617	0.00241
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=)	rs142812510	0.00240
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=)	rs145896974	0.00240
NM_000359.3(TGM1):c.429C>T (p.Arg143=)	rs144989372	0.00239
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu)	rs117843968	0.00237
NM_001042492.3(NF1):c.846G>A (p.Gln282=)	rs138840528	0.00237
NM_001171.6(ABCC6):c.1248C>T (p.Asp416=)	rs143487365	0.00236
NM_002529.4(NTRK1):c.612G>A (p.Ser204=)	rs114320051	0.00236
NM_014363.6(SACS):c.10611A>G (p.Ala3537=)	rs137856939	0.00236
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr)	rs183021839	0.00235
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=)	rs116302615	0.00235
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys)	rs45454496	0.00235
NM_025132.4(WDR19):c.2142+12G>A	rs149621476	0.00235
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser)	rs149547196	0.00234
NM_153676.4(USH1C):c.403G>A (p.Val135Ile)	rs145013633	0.00234
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)	rs148000219	0.00234
NM_004525.3(LRP2):c.5390A>G (p.Asn1797Ser)	rs138070797	0.00233
NM_013275.6(ANKRD11):c.7296C>T (p.Ser2432=)	rs146648782	0.00233
NM_015602.4(TOR1AIP1):c.70C>G (p.Pro24Ala)	rs146976883	0.00233
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly)	rs149804567	0.00233
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)	rs139570786	0.00232
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)	rs139235751	0.00230
NM_000199.5(SGSH):c.411G>A (p.Ala137=)	rs142557761	0.00230
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=)	rs143916832	0.00229
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile)	rs114191482	0.00228
NM_015627.3(LDLRAP1):c.713G>A (p.Arg238Gln)	rs148579379	0.00227
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys)	rs35689779	0.00225
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe)	rs150441555	0.00223
NM_001367624.2(ZNF469):c.10327G>C (p.Gly3443Arg)	rs532857190	0.00223
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn)	rs10979599	0.00222
NM_004924.6(ACTN4):c.1425C>T (p.Ala475=)	rs144388375	0.00222
NM_031935.3(HMCN1):c.5070A>T (p.Ile1690=)	rs141581919	0.00222
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=)	rs17886566	0.00220
NM_002529.4(NTRK1):c.254G>A (p.Arg85His)	rs79678945	0.00220
NM_013275.6(ANKRD11):c.6826C>T (p.Pro2276Ser)	rs201957371	0.00220
NM_183050.4(BCKDHB):c.742+16A>G	rs140373763	0.00220
NM_000186.4(CFH):c.3207T>C (p.Ser1069=)	rs62641697	0.00219
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr)	rs45517319	0.00219
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)	rs116587608	0.00218
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys)	rs181347577	0.00218
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)	rs137932254	0.00218
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile)	rs74360232	0.00218
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)	rs144942544	0.00217
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=)	rs117880912	0.00217
NM_004525.3(LRP2):c.12379C>A (p.Arg4127Ser)	rs148356370	0.00217
NM_001042492.3(NF1):c.4836-21229G>C	rs17884293	0.00215
NM_001083961.2(WDR62):c.4312-5T>G	rs182467995	0.00214
NM_001367624.2(ZNF469):c.8381C>T (p.Thr2794Met)	rs202188220	0.00214
NM_005751.5(AKAP9):c.11098-13T>G	rs76709221	0.00214
NM_000492.4(CFTR):c.2620-15C>G	rs139379077	0.00212
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser)	rs149210307	0.00212
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala)	rs144787939	0.00212
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)	rs61729954	0.00212
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn)	rs55858252	0.00211
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn)	rs72749169	0.00210
NM_004525.3(LRP2):c.2079C>T (p.Phe693=)	rs145709922	0.00210
NM_031935.3(HMCN1):c.4782A>G (p.Ala1594=)	rs78613732	0.00210
NM_000243.3(MEFV):c.1261-28A>G	rs104895140	0.00208
NM_000455.5(STK11):c.464+9G>A	rs376313955	0.00208
NM_004525.3(LRP2):c.769+9G>A	rs148452352	0.00208
NM_006493.4(CLN5):c.-99G>C	rs202118652	0.00208
NM_031935.3(HMCN1):c.4475+9C>A	rs111694556	0.00208
NM_201253.3(CRB1):c.2306G>A (p.Arg769His)	rs62636287	0.00208
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu)	rs144358567	0.00207
NM_001369.3(DNAH5):c.624C>T (p.Asn208=)	rs139640247	0.00206
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)	rs34767364	0.00206
NM_001148.6(ANK2):c.2277+9C>T	rs141965666	0.00205
NM_001148.6(ANK2):c.6648C>G (p.Gly2216=)	rs140926982	0.00205
NM_001267550.2(TTN):c.1938+10G>C	rs190935632	0.00205
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val)	rs61733680	0.00204
NM_001148.6(ANK2):c.10371G>A (p.Thr3457=)	rs142908806	0.00204
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile)	rs149881695	0.00204
NM_001267550.2(TTN):c.426C>T (p.Ala142=)	rs56137037	0.00204
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val)	rs139142865	0.00203
NM_000051.4(ATM):c.162T>C (p.Tyr54=)	rs3218690	0.00200
NM_000642.3(AGL):c.2546+10T>C	rs74551473	0.00200
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser)	rs144952836	0.00199
NM_001394062.1(MACF1):c.3924G>A (p.Ser1308=)	rs150560748	0.00198
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)	rs36061856	0.00198
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)	rs146451611	0.00197
NM_004525.3(LRP2):c.12380G>A (p.Arg4127His)	rs142934522	0.00196
NM_004525.3(LRP2):c.6850A>G (p.Thr2284Ala)	rs35413340	0.00196
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val)	rs147327414	0.00195
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys)	rs72648972	0.00195
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val)	rs73945001	0.00195
NM_014795.4(ZEB2):c.807+3G>C	rs144925893	0.00194
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)	rs41269549	0.00194
NM_000349.3(STAR):c.361C>T (p.Arg121Trp)	rs34908868	0.00193
NM_000368.5(TSC1):c.2865C>T (p.Thr955=)	rs45468995	0.00193
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile)	rs148399850	0.00192
NM_004525.3(LRP2):c.2513+14T>C	rs201785482	0.00192
NM_014915.3(ANKRD26):c.40G>A (p.Gly14Ser)	rs201068693	0.00192
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly)	rs36105240	0.00190
NM_004525.3(LRP2):c.10170-15T>G	rs144579935	0.00190
NM_000027.4(AGA):c.436T>G (p.Leu146Val)	rs146381591	0.00188
NM_014915.3(ANKRD26):c.1133A>G (p.Glu378Gly)	rs186243874	0.00188
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser)	rs77618751	0.00188
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)	rs183655276	0.00187
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg)	rs57443665	0.00186
NM_000166.6(GJB1):c.235C>T (p.Leu79=)	rs144717157	0.00186
NM_005609.4(PYGM):c.660G>A (p.Gln220=)	rs142234258	0.00186
NM_001126108.2(SLC12A3):c.1980C>T (p.Asp660=)	rs201519016	0.00185
NM_001367624.2(ZNF469):c.8064C>T (p.Asp2688=)	rs558108271	0.00185
NM_019032.6(ADAMTSL4):c.2763+12G>A	rs200136870	0.00185
NM_000546.6(TP53):c.782+17C>T	rs17880172	0.00184
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys)	rs141168110	0.00184
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys)	rs111033255	0.00183
NM_001083961.2(WDR62):c.4338C>T (p.Thr1446=)	rs149289227	0.00183
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=)	rs142891278	0.00183
NM_004525.3(LRP2):c.10233C>T (p.Phe3411=)	rs139363553	0.00183
NM_020366.4(RPGRIP1):c.2376G>A (p.Ser792=)	rs185667326	0.00183
NM_032520.5(GNPTG):c.741+5C>T	rs201263537	0.00183
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)	rs149287302	0.00182
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)	rs61753720	0.00182
NM_014159.7(SETD2):c.2302G>C (p.Val768Leu)	rs9311404	0.00182
NM_001130438.3(SPTAN1):c.3720-5T>G	rs200543425	0.00180
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg)	rs137917233	0.00180
NM_001918.5(DBT):c.753C>T (p.Asp251=)	rs79292123	0.00179
NM_001148.6(ANK2):c.11465G>C (p.Gly3822Ala)	rs79577190	0.00178
NM_001182.5(ALDH7A1):c.373A>G (p.Ile125Val)	rs117295656	0.00178
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=)	rs56324602	0.00178
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=)	rs56293906	0.00178
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)	rs140551762	0.00178
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)	rs149318176	0.00178
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=)	rs34025424	0.00176
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=)	rs140279996	0.00175
NM_005609.4(PYGM):c.924C>T (p.Ile308=)	rs139726186	0.00175
NM_001205293.3(CACNA1E):c.57G>A (p.Ser19=)	rs370950694	0.00174
NM_000268.4(NF2):c.1123-6C>T	rs147898623	0.00173
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln)	rs150734270	0.00173
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe)	rs35984312	0.00173
NM_031935.3(HMCN1):c.6063G>A (p.Val2021=)	rs144776594	0.00173
NM_000199.5(SGSH):c.1283G>A (p.Arg428His)	rs144862290	0.00172
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg)	rs61736380	0.00172
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val)	rs183156491	0.00171
NM_001148.6(ANK2):c.8354C>T (p.Ser2785Leu)	rs145895389	0.00170
NM_014363.6(SACS):c.2988A>G (p.Leu996=)	rs111846884	0.00170
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His)	rs730254	0.00170
NM_022455.5(NSD1):c.1149C>T (p.Ile383=)	rs34921128	0.00169
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg)	rs147317123	0.00168
NM_001025603.2(RFX5):c.1379G>A (p.Ser460Asn)	rs142053610	0.00167
NM_000110.4(DPYD):c.1525-11G>A	rs55699321	0.00166
NM_001367624.2(ZNF469):c.751C>A (p.Pro251Thr)	rs540655479	0.00166
NM_015346.4(ZFYVE26):c.4066T>G (p.Cys1356Gly)	rs149276487	0.00166
NM_000275.3(OCA2):c.1560C>A (p.Leu520=)	rs140932222	0.00164
NM_002529.4(NTRK1):c.1354+18A>T	rs73004759	0.00164
NM_000057.4(BLM):c.2268A>G (p.Lys756=)	rs146013879	0.00163
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)	rs151272083	0.00162
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr)	rs144668626	0.00161
NM_002506.3(NGF):c.78C>T (p.Val26=)	rs150188752	0.00161
NM_004525.3(LRP2):c.9914G>A (p.Arg3305His)	rs3213760	0.00161
NM_014297.5(ETHE1):c.*55G>T	rs201842186	0.00160
NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=)	rs138423302	0.00159
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val)	rs142679083	0.00159
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val)	rs200250181	0.00159
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln)	rs150555106	0.00158
NM_000287.4(PEX6):c.1480-5C>T	rs376473597	0.00157
NM_001148.6(ANK2):c.3255G>T (p.Ala1085=)	rs56173868	0.00156
NM_004525.3(LRP2):c.12725A>G (p.Asp4242Gly)	rs35942532	0.00156
NM_013275.6(ANKRD11):c.5738C>A (p.Thr1913Asn)	rs142373563	0.00156
NM_001367561.1(DOCK7):c.2700C>T (p.Ser900=)	rs35648144	0.00154
NM_001370658.1(BTD):c.201C>T (p.Asn67=)	rs147057169	0.00154
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala)	rs148135241	0.00152
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)	rs41292782	0.00151
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)	rs181250704	0.00151
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys)	rs114896482	0.00151
NM_000536.4(RAG2):c.1504A>G (p.Met502Val)	rs145614809	0.00150
NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu)	rs146205997	0.00150
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)	rs199573929	0.00149
NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=)	rs41307518	0.00149
NM_014363.6(SACS):c.810T>G (p.Phe270Leu)	rs116907814	0.00149
NM_005751.5(AKAP9):c.10197T>C (p.Thr3399=)	rs143627839	0.00148
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)	rs28940579	0.00147
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)	rs61752878	0.00147
NM_001126108.2(SLC12A3):c.1392C>A (p.Ala464=)	rs118121751	0.00146
NM_004525.3(LRP2):c.9147C>T (p.Phe3049=)	rs146115458	0.00146
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)	rs72552259	0.00145
NM_002485.5(NBN):c.511A>G (p.Ile171Val)	rs61754966	0.00145
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter)	rs150597413	0.00144
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=)	rs138661755	0.00144
NM_000372.5(TYR):c.650G>A (p.Arg217Gln)	rs61754365	0.00143
NM_000642.3(AGL):c.1875G>T (p.Thr625=)	rs141944878	0.00143
NM_001126108.2(SLC12A3):c.93C>T (p.Pro31=)	rs34055681	0.00143
NM_020822.3(KCNT1):c.2892C>T (p.Phe964=)	rs146904895	0.00143
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)	rs145798966	0.00142
NM_001126108.2(SLC12A3):c.2190C>T (p.Leu730=)	rs150692587	0.00141
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu)	rs72646845	0.00140
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys)	rs200510462	0.00140
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser)	rs118203742	0.00139
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)	rs144590904	0.00139
NM_000260.4(MYO7A):c.510G>A (p.Leu170=)	rs34477144	0.00138
NM_001148.6(ANK2):c.7902G>A (p.Val2634=)	rs150878494	0.00138
NM_002529.4(NTRK1):c.287+12G>A	rs202238126	0.00138
NM_015978.3(TNNI3K):c.969A>G (p.Lys323=)	rs141955645	0.00138
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu)	rs142401936	0.00137
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
NM_014915.3(ANKRD26):c.2170A>C (p.Ser724Arg)	rs141748831	0.00136
NM_000053.4(ATP7B):c.1278C>T (p.Val426=)	rs143556945	0.00135
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)	rs1800073	0.00134
NM_133433.4(NIPBL):c.294C>T (p.Ala98=)	rs142184978	0.00134
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp)	rs143002265	0.00133
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys)	rs145062583	0.00132
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)	rs141212446	0.00132
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser)	rs548525119	0.00131
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)	rs74315294	0.00131
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe)	rs142553916	0.00131
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=)	rs140353002	0.00130
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys)	rs78920863	0.00130
NM_000186.4(CFH):c.1707C>T (p.Cys569=)	rs144976181	0.00129
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)	rs11212587	0.00127
NM_020366.4(RPGRIP1):c.542C>G (p.Ala181Gly)	rs186266220	0.00127
NM_000158.4(GBE1):c.1521T>C (p.Thr507=)	rs372821643	0.00126
NM_000277.3(PAH):c.*19G>T	rs372637021	0.00126
NM_001282531.3(ADNP):c.2931A>G (p.Gly977=)	rs144684998	0.00126
NM_004525.3(LRP2):c.6267G>A (p.Pro2089=)	rs2228169	0.00126
NM_013275.6(ANKRD11):c.890C>T (p.Thr297Met)	rs140998225	0.00126
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu)	rs149112292	0.00125
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=)	rs55865524	0.00125
NM_057176.3(BSND):c.189C>T (p.Val63=)	rs144505461	0.00125
NM_000455.5(STK11):c.598-8C>T	rs373610101	0.00123
NM_001042492.3(NF1):c.1810T>C (p.Leu604=)	rs142712751	0.00123
NM_001042492.3(NF1):c.4577+11C>G	rs190614908	0.00123
NM_001267550.2(TTN):c.34453+12C>A	rs74930148	0.00123
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)	rs141373204	0.00123
NM_004525.3(LRP2):c.13921A>T (p.Thr4641Ser)	rs79179577	0.00123
NM_030632.3(ASXL3):c.3389C>G (p.Pro1130Arg)	rs185753602	0.00123
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)	rs140524886	0.00122
NM_006432.5(NPC2):c.88G>A (p.Val30Met)	rs151220873	0.00122
NM_000069.3(CACNA1S):c.5371-19C>T	rs201064986	0.00121
NM_013275.6(ANKRD11):c.6745C>T (p.Arg2249Cys)	rs202081612	0.00121
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)	rs61754109	0.00121
NM_000642.3(AGL):c.968G>A (p.Arg323Gln)	rs139399527	0.00120
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu)	rs118169528	0.00119
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)	rs75789129	0.00119
NM_001369.3(DNAH5):c.2443T>A (p.Leu815Met)	rs149654950	0.00119
NM_004525.3(LRP2):c.391A>G (p.Arg131Gly)	rs34592807	0.00119
NM_005391.5(PDK3):c.376A>G (p.Met126Val)	rs138321172	0.00119
NM_006623.4(PHGDH):c.510+6A>G	rs371736796	0.00119
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)	rs147876778	0.00119
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val)	rs78972735	0.00119
NM_000035.4(ALDOB):c.*12C>T	rs201867948	0.00118
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr)	rs187925021	0.00118
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys)	rs72648939	0.00117
NM_001267550.2(TTN):c.44529C>T (p.His14843=)	rs55973744	0.00117
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)	rs111920492	0.00117
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=)	rs146819206	0.00117
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser)	rs200440641	0.00117
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)	rs145138923	0.00116
NM_001394062.1(MACF1):c.13145A>G (p.Asn4382Ser)	rs148069432	0.00116
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg)	rs199727787	0.00116
NM_000152.5(GAA):c.1830C>T (p.Ala610=)	rs61736896	0.00115
NM_000268.4(NF2):c.12C>T (p.Ala4=)	rs144477078	0.00115
NM_206933.4(USH2A):c.4698G>A (p.Gln1566=)	rs143218330	0.00115
NM_000033.4(ABCD1):c.707G>A (p.Arg236His)	rs201455322	0.00114
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr)	rs201767727	0.00114
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=)	rs138968178	0.00114
NM_002485.5(NBN):c.1317A>G (p.Ile439Met)	rs28538230	0.00114
NM_000069.3(CACNA1S):c.3795+3G>A	rs191758096	0.00113
NM_000152.5(GAA):c.915G>A (p.Gly305=)	rs150343359	0.00113
NM_000199.5(SGSH):c.1002C>T (p.Ala334=)	rs145596938	0.00113
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val)	rs112005830	0.00113
NM_000152.5(GAA):c.2415G>A (p.Val805=)	rs150536507	0.00112
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)	rs45484298	0.00111
NM_013275.6(ANKRD11):c.6730G>A (p.Val2244Ile)	rs200852197	0.00111
NM_001267550.2(TTN):c.49371A>T (p.Leu16457=)	rs146163169	0.00110
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp)	rs11568514	0.00110
NM_015166.4(MLC1):c.628G>A (p.Val210Ile)	rs11568178	0.00110
NM_017617.5(NOTCH1):c.1511G>A (p.Arg504His)	rs201768800	0.00110
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn)	rs2230308	0.00109
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=)	rs55832587	0.00109
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=)	rs55956577	0.00109
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=)	rs140034972	0.00109
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr)	rs45490792	0.00108
NM_001267550.2(TTN):c.91565-13C>T	rs200847757	0.00108
NM_001267550.2(TTN):c.95148C>T (p.Thr31716=)	rs140663434	0.00108
NM_031935.3(HMCN1):c.15393C>T (p.Ser5131=)	rs142864872	0.00108
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)	rs34988750	0.00107
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His)	rs143024324	0.00107
NM_000337.6(SGCD):c.144G>C (p.Val48=)	rs372152495	0.00106
NM_001282531.3(ADNP):c.2943G>T (p.Val981=)	rs143103063	0.00106
NM_001399.5(EDA):c.458G>A (p.Arg153His)	rs140642493	0.00106
NM_000186.4(CFH):c.1935G>T (p.Thr645=)	rs56035657	0.00105
NM_000199.5(SGSH):c.390C>T (p.Thr130=)	rs111761143	0.00105
NM_001184.4(ATR):c.2637C>T (p.Ala879=)	rs150512706	0.00105
NM_018136.5(ASPM):c.-9G>T	rs141108591	0.00105
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His)	rs62636285	0.00105
NM_001267550.2(TTN):c.24150C>T (p.Ser8050=)	rs185062935	0.00104
NM_001267550.2(TTN):c.29605-12T>C	rs143352892	0.00104
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=)	rs188584219	0.00104
NM_001042432.2(CLN3):c.768C>T (p.Thr256=)	rs145967477	0.00103
NM_001267550.2(TTN):c.101406C>G (p.Val33802=)	rs55802460	0.00103
NM_022124.6(CDH23):c.198G>A (p.Val66=)	rs111033288	0.00103
NM_000359.3(TGM1):c.432G>A (p.Gly144=)	rs141559048	0.00102
NM_001184.4(ATR):c.5987T>C (p.Met1996Thr)	rs150339560	0.00102
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr)	rs142278066	0.00102
NM_004924.6(ACTN4):c.2016C>T (p.Ile672=)	rs137985903	0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)	rs191312027	0.00101
NM_000152.5(GAA):c.726G>A (p.Ala242=)	rs148578399	0.00101
NM_001126108.2(SLC12A3):c.1567+7C>T	rs376819753	0.00101
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp)	rs146632606	0.00101
NM_001184.4(ATR):c.4200A>T (p.Leu1400=)	rs150562945	0.00101
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala)	rs56137800	0.00101
NM_001267550.2(TTN):c.82497C>T (p.Thr27499=)	rs199629314	0.00101
NM_005751.5(AKAP9):c.9358+11T>C	rs199714035	0.00101
NM_000069.3(CACNA1S):c.165G>A (p.Thr55=)	rs150520884	0.00100
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met)	rs72650677	0.00100
NM_001182.4(ALDH7A1):c.-29T>C	rs556650006	0.00100
NM_004525.3(LRP2):c.2603C>G (p.Thr868Ser)	rs150752263	0.00100
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr)	rs141463026	0.00100
NM_031935.3(HMCN1):c.9546G>A (p.Thr3182=)	rs140049629	0.00100
NM_032861.4(SERAC1):c.1137A>G (p.Val379=)	rs115846131	0.00100
NM_201253.3(CRB1):c.2103C>G (p.Pro701=)	rs144436610	0.00100
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=)	rs56026369	0.00099
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile)	rs72649002	0.00099
NM_014363.6(SACS):c.4015A>C (p.Ile1339Leu)	rs143144795	0.00099
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=)	rs144206959	0.00098
NM_000169.3(GLA):c.8T>C (p.Leu3Pro)	rs150547672	0.00098
NM_130849.4(SLC39A4):c.257C>T (p.Pro86Leu)	rs187080747	0.00098
NM_000553.6(WRN):c.2500C>T (p.Arg834Cys)	rs3087425	0.00097
NM_013275.6(ANKRD11):c.6978C>T (p.Ala2326=)	rs558301893	0.00097
NM_000069.3(CACNA1S):c.5370+10G>A	rs368138384	0.00096
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu)	rs141200145	0.00096
NM_000520.6(HEXA):c.1107C>T (p.Gly369=)	rs140337137	0.00096
NM_000093.5(COL5A1):c.12T>C (p.His4=)	rs368818087	0.00095
NM_000379.4(XDH):c.636T>C (p.Phe212=)	rs140225517	0.00095
NM_001126108.2(SLC12A3):c.1284C>T (p.Thr428=)	rs34216426	0.00095
NM_002529.4(NTRK1):c.1080G>A (p.Thr360=)	rs2274498	0.00095
NM_014159.7(SETD2):c.3229A>G (p.Thr1077Ala)	rs114719990	0.00095
NM_000548.5(TSC2):c.275A>T (p.Glu92Val)	rs137853994	0.00094
NM_000016.6(ACADM):c.994C>T (p.Leu332=)	rs138098371	0.00093
NM_000069.3(CACNA1S):c.900+14C>T	rs377170574	0.00093
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)	rs74571530	0.00093
NM_020822.3(KCNT1):c.985C>T (p.Leu329=)	rs147165522	0.00093
NM_000455.5(STK11):c.894C>A (p.Phe298Leu)	rs199681533	0.00092
NM_000512.5(GALNS):c.303C>T (p.Asn101=)	rs79146426	0.00092
NM_001184.4(ATR):c.5070C>T (p.Ala1690=)	rs142881746	0.00092
NM_002281.4(KRT81):c.846T>A (p.Tyr282Ter)	rs138597671	0.00092
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)	rs138629441	0.00091
NM_000277.3(PAH):c.158G>A (p.Arg53His)	rs118092776	0.00091
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=)	rs146932786	0.00091
NM_004525.3(LRP2):c.4831C>T (p.Leu1611=)	rs151079411	0.00091
NM_177550.5(SLC13A5):c.231+6C>A	rs138834680	0.00091
NM_000199.5(SGSH):c.1446C>T (p.Ala482=)	rs113679696	0.00090
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr)	rs142822371	0.00090
NM_001099922.3(ALG13):c.150C>T (p.Pro50=)	rs147897682	0.00090
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln)	rs138842207	0.00090
NM_014363.6(SACS):c.9852A>G (p.Thr3284=)	rs147506904	0.00090
NM_014915.3(ANKRD26):c.542C>T (p.Thr181Ile)	rs191015656	0.00090
NM_000152.5(GAA):c.2668G>C (p.Val890Leu)	rs377286472	0.00089
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His)	rs142723249	0.00089
NM_001148.6(ANK2):c.1863C>G (p.Ser621=)	rs146425138	0.00089
NM_133433.4(NIPBL):c.2256A>G (p.Glu752=)	rs148075057	0.00089
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser)	rs200164758	0.00088
NM_001182.5(ALDH7A1):c.243A>G (p.Arg81=)	rs146438406	0.00088
NM_004525.3(LRP2):c.6176C>T (p.Ser2059Phe)	rs148299415	0.00088
NM_014159.7(SETD2):c.3422C>T (p.Pro1141Leu)	rs142723093	0.00088
NM_000546.6(TP53):c.994-17C>T	rs368691910	0.00087
NM_001171.6(ABCC6):c.2904G>A (p.Leu968=)	rs72664287	0.00087
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile)	rs149291867	0.00087
NM_004525.3(LRP2):c.10165A>G (p.Ile3389Val)	rs140272085	0.00087
NM_000053.4(ATP7B):c.2174G>A (p.Arg725Lys)	rs115227204	0.00086
NM_000133.4(F9):c.19A>T (p.Ile7Phe)	rs150190385	0.00086
NM_001370658.1(BTD):c.1041C>T (p.Gly347=)	rs142421934	0.00086
NM_020822.3(KCNT1):c.3157-8C>T	rs371874401	0.00086
NM_001099922.3(ALG13):c.1591T>C (p.Leu531=)	rs112837367	0.00085
NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val)	rs77300588	0.00085
NM_182760.4(SUMF1):c.211T>C (p.Ser71Pro)	rs201984297	0.00085
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)	rs35818432	0.00085
NM_004525.3(LRP2):c.987G>A (p.Ala329=)	rs141751667	0.00084
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=)	rs146673563	0.00084
NM_018122.5(DARS2):c.128-5T>A	rs200078808	0.00084
NM_000048.4(ASL):c.392C>T (p.Thr131Met)	rs143793815	0.00083
NM_000093.5(COL5A1):c.4795G>C (p.Glu1599Gln)	rs149212775	0.00083
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)	rs35516286	0.00083
NM_000548.5(TSC2):c.856A>G (p.Met286Val)	rs1800748	0.00083
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=)	rs147955381	0.00083
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe)	rs137961578	0.00083
NM_013275.6(ANKRD11):c.6193T>C (p.Phe2065Leu)	rs200351209	0.00083
NM_013275.6(ANKRD11):c.6221A>C (p.Glu2074Ala)	rs201401760	0.00083
NM_000268.4(NF2):c.1451T>C (p.Met484Thr)	rs141538143	0.00082
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)	rs111033243	0.00082
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser)	rs114468011	0.00081
NM_005751.5(AKAP9):c.6508-20A>T	rs374874284	0.00081
NM_007214.5(SEC63):c.340-7T>C	rs1569557	0.00081
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe)	rs115722008	0.00081
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)	rs41302239	0.00081
NM_000396.4(CTSK):c.-1-9C>T	rs200480574	0.00080
NM_001267550.2(TTN):c.32807-10T>A	rs138192315	0.00080
NM_017617.5(NOTCH1):c.1440C>T (p.Pro480=)	rs61751555	0.00080
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=)	rs150015024	0.00079
NM_001267550.2(TTN):c.1537-4G>A	rs56006378	0.00079
NM_022455.5(NSD1):c.1574G>A (p.Arg525Gln)	rs138405802	0.00079
NM_000022.4(ADA):c.226C>T (p.Arg76Trp)	rs121908736	0.00078
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)	rs373081328	0.00078
NM_000186.4(CFH):c.2637A>G (p.Gly879=)	rs55752475	0.00078
NM_000275.3(OCA2):c.1117-17T>C	rs200081580	0.00078
NM_001303256.3(MORC2):c.1768C>T (p.Leu590=)	rs146972491	0.00078
NM_003060.4(SLC22A5):c.1380C>T (p.Asn460=)	rs149521997	0.00078
NM_004525.3(LRP2):c.6160G>A (p.Asp2054Asn)	rs138269726	0.00078
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)	rs181255269	0.00078
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)	rs117148013	0.00078
NM_000152.5(GAA):c.858+8G>A	rs5822325	0.00077
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=)	rs143318498	0.00077
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=)	rs202017608	0.00077
NM_020822.3(KCNT1):c.2619C>T (p.Gly873=)	rs144659358	0.00077
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=)	rs150296373	0.00077
NM_000069.3(CACNA1S):c.2601C>T (p.Tyr867=)	rs34374418	0.00076
NM_000069.3(CACNA1S):c.4114-8T>C	rs373675720	0.00076
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr)	rs147196739	0.00076
NM_001267550.2(TTN):c.19191G>A (p.Thr6397=)	rs140495148	0.00076
NM_013275.6(ANKRD11):c.6560C>T (p.Pro2187Leu)	rs202216051	0.00076
NM_000359.3(TGM1):c.383A>G (p.Glu128Gly)	rs138592626	0.00075
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser)	rs116711766	0.00075
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys)	rs191482653	0.00075
NM_001367561.1(DOCK7):c.480T>C (p.Ser160=)	rs142535471	0.00075
NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln)	rs181758389	0.00074
NM_001126108.2(SLC12A3):c.2028C>T (p.His676=)	rs35070204	0.00073
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu)	rs143108250	0.00073
NM_004525.3(LRP2):c.3311A>G (p.His1104Arg)	rs144906000	0.00073
NM_014423.4(AFF4):c.830G>C (p.Ser277Thr)	rs141068875	0.00073
NM_000512.5(GALNS):c.324C>T (p.Tyr108=)	rs150582627	0.00072
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)	rs116135678	0.00072
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)	rs200483477	0.00072
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=)	rs139436386	0.00072
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)	rs2235006	0.00071
NM_000289.6(PFKM):c.453G>A (p.Thr151=)	rs144370737	0.00071
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr)	rs149638449	0.00071
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met)	rs187473846	0.00071
NM_000069.3(CACNA1S):c.5087C>T (p.Thr1696Met)	rs367577681	0.00070
NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg)	rs192833530	0.00070
NM_000275.3(OCA2):c.1857C>T (p.Asp619=)	rs7164127	0.00070
NM_000368.5(TSC1):c.273G>A (p.Ser91=)	rs115097221	0.00070
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)	rs45517238	0.00070
NM_001267550.2(TTN):c.30224-8T>G	rs72650010	0.00070
NM_013275.6(ANKRD11):c.2519G>A (p.Arg840Gln)	rs149776253	0.00070
NM_015166.4(MLC1):c.627C>T (p.Ala209=)	rs138153307	0.00070
NM_015346.4(ZFYVE26):c.273+13A>G	rs150070634	0.00070
NM_015602.4(TOR1AIP1):c.531_532insTCA (p.Val177_Arg178insSer)	rs145521179	0.00070
NM_018136.5(ASPM):c.8166T>C (p.Tyr2722=)	rs78315399	0.00070
NM_031935.3(HMCN1):c.16731T>C (p.Thr5577=)	rs146867591	0.00070
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)	rs140601319	0.00070
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)	rs142248228	0.00070
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)	rs145890213	0.00070
NM_000553.6(WRN):c.3237G>A (p.Ser1079=)	rs11574345	0.00069
NM_002225.5(IVD):c.891G>A (p.Ala297=)	rs138427412	0.00069
NM_022455.5(NSD1):c.1980C>T (p.Asn660=)	rs140072393	0.00069
NM_000455.5(STK11):c.597+14del	rs536282050	0.00068
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)	rs121909034	0.00068
NM_000512.5(GALNS):c.858G>A (p.Thr286=)	rs140299014	0.00068
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr)	rs137854154	0.00068
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr)	rs45517203	0.00068
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg)	rs143205296	0.00068
NM_153006.3(NAGS):c.1302C>T (p.Pro434=)	rs150004962	0.00068
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr)	rs144321760	0.00067
NM_001130438.3(SPTAN1):c.5478+12G>A	rs41275900	0.00067
NM_001130438.3(SPTAN1):c.7309-15T>C	rs370705867	0.00067
NM_001360.3(DHCR7):c.126C>T (p.Ser42=)	rs150928869	0.00067
NM_153717.3(EVC):c.2322G>C (p.Ala774=)	rs150373930	0.00067
NM_000053.4(ATP7B):c.1198A>G (p.Thr400Ala)	rs199807461	0.00066
NM_000069.3(CACNA1S):c.4338+13G>T	rs370782181	0.00066
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val)	rs148154172	0.00066
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser)	rs139203363	0.00066
NM_004738.5(VAPB):c.390T>G (p.Asp130Glu)	rs146459055	0.00066
NM_020822.3(KCNT1):c.3503-18C>T	rs373901872	0.00066
NM_206933.4(USH2A):c.2052A>G (p.Gln684=)	rs111033248	0.00066
NM_000033.4(ABCD1):c.258C>T (p.Val86=)	rs200660869	0.00065
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)	rs111033212	0.00065
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=)	rs372260338	0.00065
NM_001101.5(ACTB):c.1107C>T (p.Ile369=)	rs71531321	0.00065
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly)	rs201390755	0.00065
NM_004525.3(LRP2):c.4803C>T (p.Cys1601=)	rs141068435	0.00065
NM_020822.3(KCNT1):c.1619+18C>T	rs183348093	0.00065
NM_152296.5(ATP1A3):c.2838C>T (p.Phe946=)	rs141421692	0.00065
NM_000368.5(TSC1):c.1526G>A (p.Arg509Gln)	rs118203543	0.00064
NM_000455.5(STK11):c.945G>A (p.Pro315=)	rs376329042	0.00064
NM_000642.3(AGL):c.334A>G (p.Ile112Val)	rs147024351	0.00064
NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn)	rs144947610	0.00064
NM_014159.7(SETD2):c.3097A>G (p.Thr1033Ala)	rs145759179	0.00064
NM_015627.3(LDLRAP1):c.432C>T (p.His144=)	rs200840583	0.00064
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=)	rs140815139	0.00064
NM_000020.3(ACVRL1):c.207C>T (p.Cys69=)	rs56080682	0.00063
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val)	rs150151955	0.00063
NM_000202.8(IDS):c.396G>A (p.Ser132=)	rs147108245	0.00063
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu)	rs148527903	0.00063
NM_003060.4(SLC22A5):c.1579G>C (p.Val527Leu)	rs145792427	0.00063
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=)	rs146879902	0.00063
NM_000268.4(NF2):c.1113C>T (p.Asn371=)	rs142459414	0.00062
NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=)	rs374403946	0.00062
NM_001365088.1(SLC12A6):c.1164C>T (p.Asp388=)	rs145615604	0.00062
NM_004525.3(LRP2):c.11264-14C>G	rs377424162	0.00062
NM_001126108.2(SLC12A3):c.36C>T (p.Asp12=)	rs117987946	0.00061
NM_001303256.3(MORC2):c.2044G>A (p.Val682Ile)	rs144493873	0.00061
NM_003060.4(SLC22A5):c.1441G>A (p.Val481Ile)	rs11568513	0.00061
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala)	rs114615449	0.00061
NM_005751.5(AKAP9):c.5246T>C (p.Ile1749Thr)	rs150016098	0.00061
NM_006623.4(PHGDH):c.624T>C (p.Pro208=)	rs77401816	0.00061
NM_013275.6(ANKRD11):c.6140C>G (p.Ala2047Gly)	rs199691161	0.00061
NM_014363.6(SACS):c.12813T>G (p.Pro4271=)	rs146376949	0.00061
NM_014363.6(SACS):c.13344C>T (p.Arg4448=)	rs200157359	0.00061
NM_014795.4(ZEB2):c.2206A>G (p.Met736Val)	rs139191491	0.00061
NM_018136.5(ASPM):c.9492T>C (p.Tyr3164=)	rs143931757	0.00061
NM_022455.5(NSD1):c.480C>T (p.Asp160=)	rs79427433	0.00061
NM_005633.4(SOS1):c.*44T>C	rs182657531	0.00060
NM_006623.4(PHGDH):c.985A>T (p.Thr329Ser)	rs201298102	0.00060
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser)	rs199654211	0.00060
NM_030632.3(ASXL3):c.2731G>A (p.Val911Met)	rs201107680	0.00060
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys)	rs185678374	0.00060
NM_000069.3(CACNA1S):c.1948+10C>G	rs201173419	0.00059
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)	rs143486492	0.00059
NM_001267550.2(TTN):c.69231T>C (p.Leu23077=)	rs12615797	0.00059
NM_002485.5(NBN):c.788T>C (p.Phe263Ser)	rs147626427	0.00059
NM_015915.5(ATL1):c.669C>T (p.Tyr223=)	rs146975855	0.00059
NM_020822.3(KCNT1):c.1770-16C>T	rs192658955	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_000023.4(SGCA):c.421C>A (p.Arg141Ser)	rs35130237	0.00058
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=)	rs140263823	0.00058
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser)	rs186924074	0.00058
NM_000152.5(GAA):c.2417C>T (p.Thr806Met)	rs139850074	0.00058
NM_000186.4(CFH):c.3133+8G>T	rs142718541	0.00058
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)	rs33947415	0.00058
NM_001099922.3(ALG13):c.1843C>T (p.Leu615=)	rs374231091	0.00058
NM_001099922.3(ALG13):c.3358A>G (p.Ile1120Val)	rs369167525	0.00058
NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser)	rs183844833	0.00058
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala)	rs146989944	0.00058
NM_003060.4(SLC22A5):c.414C>T (p.Asp138=)	rs150705788	0.00058
NM_000037.4(ANK1):c.1467G>A (p.Leu489=)	rs148165519	0.00057
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His)	rs201252809	0.00057
NM_018122.5(DARS2):c.580G>A (p.Val194Ile)	rs186723843	0.00057
NM_000017.4(ACADS):c.669G>A (p.Thr223=)	rs17848089	0.00056
NM_000069.3(CACNA1S):c.3796-11C>T	rs369565379	0.00056
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys)	rs200761715	0.00056
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=)	rs368834616	0.00056
NM_001130438.3(SPTAN1):c.7161-9C>T	rs187613754	0.00056
NM_015166.4(MLC1):c.1053T>C (p.Ala351=)	rs11568190	0.00056
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala)	rs74533482	0.00056
NM_030632.3(ASXL3):c.5001T>G (p.Pro1667=)	rs377152896	0.00056
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)	rs148660051	0.00056
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys)	rs145771342	0.00056
NM_206933.4(USH2A):c.4758+3A>G	rs117798425	0.00056
NM_000069.3(CACNA1S):c.369T>C (p.Asn123=)	rs148680317	0.00055
NM_003982.4(SLC7A7):c.234C>T (p.Val78=)	rs139776370	0.00055
NM_013275.6(ANKRD11):c.5629C>T (p.Pro1877Ser)	rs142527333	0.00055
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met)	rs139779505	0.00054
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly)	rs143166100	0.00054
NM_001267550.2(TTN):c.63876C>T (p.Asn21292=)	rs199598302	0.00054
NM_002016.2(FLG):c.6109C>T (p.Arg2037Ter)	rs200002200	0.00054
NM_003060.4(SLC22A5):c.1142T>C (p.Met381Thr)	rs149730454	0.00054
NM_014363.6(SACS):c.7165G>A (p.Val2389Met)	rs142869943	0.00054
NM_022455.5(NSD1):c.4473G>T (p.Ser1491=)	rs150920473	0.00054
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)	rs201988582	0.00054
NM_031935.3(HMCN1):c.2212+8T>G	rs183165464	0.00054
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)	rs141103838	0.00054
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr)	rs111033533	0.00054
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)	rs34640941	0.00053
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val)	rs146303208	0.00053
NM_000069.3(CACNA1S):c.1506C>T (p.Phe502=)	rs141808465	0.00053
NM_000455.5(STK11):c.426C>T (p.Ser142=)	rs758448869	0.00053
NM_000709.4(BCKDHA):c.289-5C>T	rs200646708	0.00053
NM_020366.4(RPGRIP1):c.3171C>T (p.His1057=)	rs201838837	0.00053
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=)	rs144218745	0.00052
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp)	rs143218168	0.00052
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr)	rs145012038	0.00052
NM_000709.4(BCKDHA):c.1081A>G (p.Ile361Val)	rs61736656	0.00052
NM_001042492.3(NF1):c.7410T>C (p.Asn2470=)	rs17881903	0.00052
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=)	rs149924365	0.00052
NM_014363.6(SACS):c.2186-4A>G	rs371866995	0.00052
NM_014795.4(ZEB2):c.1306A>G (p.Met436Val)	rs145812868	0.00052
NM_022455.5(NSD1):c.3000C>T (p.Ser1000=)	rs150854966	0.00052
NM_025137.4(SPG11):c.1384T>C (p.Cys462Arg)	rs139019255	0.00052
NM_031935.3(HMCN1):c.1266C>G (p.Ser422=)	rs565658664	0.00052
NM_000069.3(CACNA1S):c.4339-14G>A	rs200570483	0.00051
NM_000372.5(TYR):c.1037-7T>A	rs61754381	0.00051
NM_000548.5(TSC2):c.1593C>T (p.Ile531=)	rs45517180	0.00051
NM_001148.6(ANK2):c.7971C>T (p.Ser2657=)	rs146085234	0.00051
NM_001253852.3(AP4B1):c.151A>C (p.Met51Leu)	rs183034705	0.00051
NM_003060.4(SLC22A5):c.279G>C (p.Ser93=)	rs377734902	0.00051
NM_013275.6(ANKRD11):c.6065C>T (p.Pro2022Leu)	rs373218212	0.00051
NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile)	rs149600313	0.00051
NM_206933.4(USH2A):c.10741-8G>A	rs369968349	0.00051
NM_000186.4(CFH):c.2509G>A (p.Val837Ile)	rs55807605	0.00050
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=)	rs141153056	0.00050
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)	rs200078204	0.00050
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val)	rs150195368	0.00050
NM_000553.6(WRN):c.1882C>G (p.Leu628Val)	rs77969734	0.00050
NM_000642.3(AGL):c.1759C>T (p.His587Tyr)	rs139488862	0.00050
NM_014159.7(SETD2):c.1415G>A (p.Arg472His)	rs201984344	0.00050
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met)	rs142381713	0.00050
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)	rs200911496	0.00049
NM_001367561.1(DOCK7):c.281G>A (p.Arg94Gln)	rs570514826	0.00049
NM_004525.3(LRP2):c.13610A>C (p.Gln4537Pro)	rs188918037	0.00049
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=)	rs115750405	0.00048
NM_001099922.3(ALG13):c.1327-19A>G	rs375412069	0.00048
NM_001126108.2(SLC12A3):c.1386C>T (p.Phe462=)	rs142199602	0.00048
NM_001253852.3(AP4B1):c.912G>A (p.Leu304=)	rs146053295	0.00048
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=)	rs72646876	0.00048
NM_004924.6(ACTN4):c.2316G>A (p.Ala772=)	rs192382222	0.00048
NM_013275.6(ANKRD11):c.4237G>A (p.Glu1413Lys)	rs140373729	0.00048
NM_020366.4(RPGRIP1):c.2550G>A (p.Gln850=)	rs200268506	0.00048
NM_133433.4(NIPBL):c.1212C>T (p.Pro404=)	rs80358349	0.00048
NM_133433.4(NIPBL):c.615G>A (p.Ser205=)	rs150678035	0.00048
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)	rs782161942	0.00047
NM_000492.4(CFTR):c.274-6T>C	rs371315549	0.00047
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln)	rs137943515	0.00047
NM_001099922.3(ALG13):c.3399A>G (p.Val1133=)	rs372982045	0.00047
NM_001918.5(DBT):c.1210-11T>A	rs751951997	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_006493.4(CLN5):c.5C>T (p.Ala2Val)	rs146993892	0.00047
NM_014159.7(SETD2):c.7164C>T (p.Thr2388=)	rs144752494	0.00047
NM_014363.6(SACS):c.10443C>G (p.Leu3481=)	rs144087359	0.00047
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg)	rs139278612	0.00047
NM_183050.4(BCKDHB):c.987C>T (p.His329=)	rs138670449	0.00047
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys)	rs140853839	0.00046
NM_000035.4(ALDOB):c.619G>C (p.Glu207Gln)	rs3739721	0.00046
NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met)	rs377030324	0.00046
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)	rs137853964	0.00046
NM_000548.5(TSC2):c.1839+6G>A	rs45517204	0.00046
NM_000548.5(TSC2):c.5312C>T (p.Pro1771Leu)	rs137854214	0.00046
NM_013275.6(ANKRD11):c.5632T>C (p.Ser1878Pro)	rs143743958	0.00046
NM_025137.4(SPG11):c.763A>G (p.Lys255Glu)	rs139091750	0.00046
NM_152296.5(ATP1A3):c.994-3C>G	rs377256877	0.00046
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=)	rs200996053	0.00045
NM_000069.3(CACNA1S):c.1301T>C (p.Phe434Ser)	rs146136274	0.00045
NM_000275.3(OCA2):c.1762C>T (p.Arg588Trp)	rs150711896	0.00045
NM_000492.4(CFTR):c.509G>A (p.Arg170His)	rs1800079	0.00045
NM_000492.4(CFTR):c.601G>A (p.Val201Met)	rs138338446	0.00045
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=)	rs139435774	0.00045
NM_000642.3(AGL):c.39C>T (p.Asn13=)	rs138203039	0.00045
NM_001042432.2(CLN3):c.831G>A (p.Val277=)	rs1142183	0.00045
NM_001267550.2(TTN):c.71369G>A (p.Arg23790His)	rs55677134	0.00045
NM_004525.3(LRP2):c.7866C>T (p.Asp2622=)	rs139514301	0.00045
NM_004525.3(LRP2):c.8901C>G (p.Pro2967=)	rs145179638	0.00045
NM_013275.6(ANKRD11):c.6112A>G (p.Lys2038Glu)	rs200724087	0.00045
NM_030787.4(CFHR5):c.329T>C (p.Val110Ala)	rs140691305	0.00045
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)	rs183105855	0.00044
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)	rs150673992	0.00044
NM_001267550.2(TTN):c.99345T>G (p.Gly33115=)	rs56398525	0.00044
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile)	rs142334798	0.00044
NM_004525.3(LRP2):c.2320+9G>A	rs368933798	0.00044
NM_006939.4(SOS2):c.1071A>G (p.Gln357=)	rs111961549	0.00044
NM_032520.5(GNPTG):c.702T>C (p.Pro234=)	rs532275192	0.00044
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)	rs149391489	0.00043
NM_000186.4(CFH):c.3178G>C (p.Val1060Leu)	rs55771831	0.00043
NM_000455.5(STK11):c.1185A>G (p.Thr395=)	rs370207155	0.00043
NM_000548.5(TSC2):c.3610+6G>A	rs45517301	0.00043
NM_000709.4(BCKDHA):c.288C>T (p.His96=)	rs148571328	0.00043
NM_001182.5(ALDH7A1):c.774-18G>A	rs185333013	0.00043
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)	rs201082652	0.00043
NM_004525.3(LRP2):c.3128A>G (p.Tyr1043Cys)	rs201299366	0.00043
NM_004525.3(LRP2):c.6553C>T (p.Leu2185Phe)	rs143884041	0.00043
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys)	rs143433500	0.00043
NM_017617.5(NOTCH1):c.5403A>G (p.Ser1801=)	rs201358664	0.00043
NM_020366.4(RPGRIP1):c.2435G>A (p.Arg812Gln)	rs190490019	0.00043
NM_020822.3(KCNT1):c.3502+12C>T	rs367727105	0.00043
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys)	rs137853825	0.00043
NM_032520.5(GNPTG):c.741+6G>A	rs371060844	0.00043
NM_000023.4(SGCA):c.662G>A (p.Arg221His)	rs138254713	0.00042
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=)	rs146522699	0.00042
NM_000268.4(NF2):c.1387G>A (p.Glu463Lys)	rs74315503	0.00042
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser)	rs118203670	0.00042
NM_001267550.2(TTN):c.72105T>C (p.Phe24035=)	rs397517691	0.00042
NM_002485.5(NBN):c.-26G>A	rs201392451	0.00042
NM_003640.5(ELP1):c.948G>A (p.Pro316=)	rs148917889	0.00042
NM_006939.4(SOS2):c.2162-10C>T	rs375702667	0.00042
NM_013275.6(ANKRD11):c.5578C>T (p.Pro1860Ser)	rs144516367	0.00042
NM_020366.4(RPGRIP1):c.1078-9C>A	rs371312060	0.00042
NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr)	rs141596008	0.00042
NM_182760.4(SUMF1):c.519A>G (p.Ala173=)	rs146050361	0.00042
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)	rs121907998	0.00041
NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro)	rs377598226	0.00041
NM_000548.5(TSC2):c.2296G>A (p.Val766Met)	rs150672640	0.00041
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)	rs138977195	0.00041
NM_001148.6(ANK2):c.7488A>G (p.Thr2496=)	rs143161930	0.00041
NM_001164508.2(NEB):c.539A>G (p.Lys180Arg)	rs200719359	0.00041
NM_004525.3(LRP2):c.12421G>A (p.Val4141Ile)	rs150382715	0.00041
NM_013275.6(ANKRD11):c.5481C>G (p.Pro1827=)	rs142469039	0.00041
NM_015506.3(MMACHC):c.631C>A (p.Pro211Thr)	rs192924272	0.00041
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)	rs121918170	0.00040
NM_000368.5(TSC1):c.1773G>A (p.Pro591=)	rs146578402	0.00040
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)	rs201386642	0.00040
NM_001099922.3(ALG13):c.2248-15G>C	rs139711892	0.00040
NM_001099922.3(ALG13):c.638G>A (p.Ser213Asn)	rs374748006	0.00040
NM_004525.3(LRP2):c.6048C>T (p.Ala2016=)	rs144449508	0.00040
NM_013275.6(ANKRD11):c.1852G>A (p.Ala618Thr)	rs140370885	0.00040
NM_013275.6(ANKRD11):c.3826G>A (p.Ala1276Thr)	rs139239852	0.00040
NM_022455.5(NSD1):c.3564G>C (p.Arg1188Ser)	rs199814669	0.00040
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser)	rs201071654	0.00040
NM_000017.4(ACADS):c.624+8C>T	rs371550264	0.00039
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)	rs201697532	0.00039
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)	rs104894845	0.00039
NM_000199.5(SGSH):c.734G>A (p.Arg245His)	rs104894635	0.00039
NM_000368.5(TSC1):c.2505C>T (p.Leu835=)	rs112384441	0.00039
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)	rs121908759	0.00039
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=)	rs201206239	0.00039
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=)	rs146720775	0.00039
NM_000020.3(ACVRL1):c.681C>T (p.Ala227=)	rs147005473	0.00038
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val)	rs534960245	0.00038
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)	rs2229222	0.00038
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)	rs200856561	0.00038
NM_000186.4(CFH):c.245-8C>T	rs537160602	0.00038
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)	rs140455771	0.00038
NM_000492.4(CFTR):c.2620-6T>C	rs371315682	0.00038
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)	rs148698650	0.00038
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=)	rs140322984	0.00038
NM_001148.6(ANK2):c.7267G>A (p.Ala2423Thr)	rs3733616	0.00038
NM_001253852.3(AP4B1):c.803A>G (p.His268Arg)	rs201047107	0.00038
NM_001918.5(DBT):c.1210-8A>T	rs535837017	0.00038
NM_004525.3(LRP2):c.9363C>T (p.Gly3121=)	rs146783211	0.00038
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=)	rs147732875	0.00038
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg)	rs201857437	0.00038
NM_025137.4(SPG11):c.6892A>G (p.Ile2298Val)	rs147962000	0.00038
NM_000033.4(ABCD1):c.945G>A (p.Ser315=)	rs145545199	0.00037
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)	rs111033303	0.00037
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)	rs150212784	0.00037
NM_001042492.3(NF1):c.369C>G (p.Thr123=)	rs146691765	0.00037
NM_001171.6(ABCC6):c.2848G>A (p.Ala950Thr)	rs72657689	0.00037
NM_006939.4(SOS2):c.3830T>C (p.Leu1277Pro)	rs146802994	0.00037
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu)	rs143982186	0.00037
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	rs62642937	0.00036
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu)	rs118203504	0.00036
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr)	rs118203357	0.00036
NM_000642.3(AGL):c.2941A>G (p.Ile981Val)	rs148981763	0.00036
NM_001099922.3(ALG13):c.1729+14A>G	rs763484848	0.00036
NM_001148.6(ANK2):c.2727T>A (p.Thr909=)	rs144548535	0.00036
NM_002016.2(FLG):c.3321del (p.Gly1109fs)	rs200519781	0.00036
NM_003060.4(SLC22A5):c.272A>G (p.Asn91Ser)	rs546442503	0.00036
NM_014795.4(ZEB2):c.1276T>A (p.Leu426Ile)	rs201881288	0.00036
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln)	rs28932180	0.00036
NM_024426.6(WT1):c.216G>T (p.Gln72His)	rs5030135	0.00036
NM_024996.7(GFM1):c.1032C>T (p.Asn344=)	rs373952002	0.00036
NM_032861.4(SERAC1):c.1659G>A (p.Ser553=)	rs114493681	0.00036
NM_133433.4(NIPBL):c.198C>G (p.Val66=)	rs146033170	0.00036
NM_000098.3(CPT2):c.588T>C (p.Pro196=)	rs140853350	0.00035
NM_000152.5(GAA):c.2109C>T (p.Tyr703=)	rs150728610	0.00035
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=)	rs150892928	0.00035
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu)	rs183487020	0.00035
NM_000455.5(STK11):c.1284G>A (p.Ser428=)	rs369097329	0.00035
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His)	rs56071233	0.00035
NM_004924.6(ACTN4):c.2191-5C>T	rs186662077	0.00035
NM_014363.6(SACS):c.3144A>G (p.Val1048=)	rs3751369	0.00035
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile)	rs151201945	0.00034
NM_000152.5(GAA):c.2652G>A (p.Thr884=)	rs143642048	0.00034
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)	rs80338848	0.00034
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)	rs147422190	0.00034
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val)	rs1800091	0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)	rs1800103	0.00034
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)	rs141723617	0.00034
NM_000548.5(TSC2):c.5204T>C (p.Ile1735Thr)	rs786203769	0.00034
NM_004525.3(LRP2):c.11322G>A (p.Ser3774=)	rs141727314	0.00034
NM_004525.3(LRP2):c.2511C>T (p.Ala837=)	rs375313914	0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)	rs140522266	0.00034
NM_017617.5(NOTCH1):c.6429C>T (p.Asn2143=)	rs369845924	0.00034
NM_020366.4(RPGRIP1):c.3239-14C>T	rs542859849	0.00034
NM_020822.3(KCNT1):c.1545C>T (p.Ala515=)	rs150905302	0.00034
NM_032520.5(GNPTG):c.264C>T (p.Asn88=)	rs145313679	0.00034
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=)	rs140021654	0.00034
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln)	rs111033409	0.00034
NM_206933.4(USH2A):c.6930G>A (p.Thr2310=)	rs146406377	0.00034
NM_000053.4(ATP7B):c.1947-4C>T	rs74904335	0.00033
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn)	rs118203493	0.00033
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=)	rs200200869	0.00033
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)	rs75541969	0.00033
NM_000548.5(TSC2):c.2743-3C>A	rs45517264	0.00033
NM_001126108.2(SLC12A3):c.1543A>G (p.Ile515Val)	rs554432544	0.00033
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln)	rs145272777	0.00033
NM_001385875.1(ZFYVE27):c.522G>A (p.Leu174=)	rs143515214	0.00033
NM_002076.4(GNS):c.4C>T (p.Arg2Trp)	rs200441930	0.00033
NM_002485.5(NBN):c.425A>G (p.Asn142Ser)	rs769414	0.00033
NM_003060.4(SLC22A5):c.605T>C (p.Leu202Pro)	rs142447950	0.00033
NM_004924.6(ACTN4):c.2679C>T (p.Pro893=)	rs146493523	0.00033
NM_006939.4(SOS2):c.2854G>A (p.Asp952Asn)	rs200387871	0.00033
NM_014159.7(SETD2):c.1734A>T (p.Leu578Phe)	rs138401612	0.00033
NM_015346.4(ZFYVE26):c.2481C>A (p.Pro827=)	rs139283212	0.00033
NM_017617.5(NOTCH1):c.1038C>T (p.His346=)	rs376951155	0.00033
NM_182760.4(SUMF1):c.891C>T (p.Asn297=)	rs143754187	0.00033
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp)	rs104895210	0.00032
NM_000243.3(MEFV):c.926C>T (p.Thr309Met)	rs104895155	0.00032
NM_000268.4(NF2):c.-18G>A	rs201591536	0.00032
NM_000498.3(CYP11B2):c.477G>A (p.Pro159=)	rs375242946	0.00032
NM_001042492.3(NF1):c.4851A>G (p.Gln1617=)	rs150309802	0.00032
NM_001130438.3(SPTAN1):c.7319G>A (p.Arg2440Gln)	rs141980692	0.00032
NM_001232.4(CASQ2):c.320-18C>T	rs376871374	0.00032
NM_001267550.2(TTN):c.72113C>T (p.Thr24038Met)	rs370375696	0.00032
NM_004525.3(LRP2):c.3551-9C>A	rs373882047	0.00032
NM_006623.4(PHGDH):c.296C>G (p.Pro99Arg)	rs182600362	0.00032
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr)	rs190617851	0.00032
NM_014363.6(SACS):c.7725A>T (p.Ile2575=)	rs200735789	0.00032
NM_022367.4(SEMA4A):c.2167C>T (p.Arg723Cys)	rs199933282	0.00032
NM_022455.5(NSD1):c.639C>T (p.Ser213=)	rs755931458	0.00032
NM_000243.3(MEFV):c.1344A>C (p.Ala448=)	rs143337771	0.00031
NM_000260.4(MYO7A):c.448C>A (p.Arg150=)	rs121965079	0.00031
NM_001042492.3(NF1):c.1137C>T (p.Cys379=)	rs139648455	0.00031
NM_001182.5(ALDH7A1):c.858G>A (p.Val286=)	rs150623275	0.00031
NM_004525.3(LRP2):c.1731G>A (p.Arg577=)	rs142698246	0.00031
NM_014159.7(SETD2):c.4060G>A (p.Asp1354Asn)	rs138005965	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_014795.4(ZEB2):c.759C>T (p.Arg253=)	rs150853991	0.00031
NM_020822.3(KCNT1):c.3681C>T (p.Pro1227=)	rs149049198	0.00031
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp)	rs145278250	0.00031
NM_000022.4(ADA):c.643G>A (p.Ala215Thr)	rs114025668	0.00030
NM_000069.3(CACNA1S):c.2361-11C>T	rs376279583	0.00030
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)	rs138577661	0.00030
NM_000268.4(NF2):c.886-15C>T	rs200837904	0.00030
NM_000277.3(PAH):c.688G>A (p.Val230Ile)	rs62516152	0.00030
NM_000368.5(TSC1):c.1977G>A (p.Ala659=)	rs35958226	0.00030
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)	rs78769542	0.00030
NM_000512.5(GALNS):c.121-4G>A	rs200008960	0.00030
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=)	rs45475501	0.00030
NM_014363.6(SACS):c.3042A>G (p.Leu1014=)	rs141982796	0.00030
NM_031935.3(HMCN1):c.14562C>T (p.Pro4854=)	rs138776748	0.00030
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=)	rs141637316	0.00030
NM_000069.3(CACNA1S):c.542-13C>T	rs199502458	0.00029
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)	rs80338671	0.00029
NM_000243.3(MEFV):c.1827C>G (p.Pro609=)	rs104895135	0.00029
NM_000268.4(NF2):c.1340+8G>T	rs370604189	0.00029
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)	rs75820036	0.00029
NM_000368.5(TSC1):c.2626-4T>C	rs777386691	0.00029
NM_000368.5(TSC1):c.346T>G (p.Leu116Val)	rs199620268	0.00029
NM_000372.5(TYR):c.649C>T (p.Arg217Trp)	rs63159160	0.00029
NM_000548.5(TSC2):c.1292C>T (p.Ala431Val)	rs202187148	0.00029
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys)	rs45517391	0.00029
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser)	rs143815159	0.00029
NM_000642.3(AGL):c.82+4A>C	rs765098686	0.00029
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=)	rs142967869	0.00029
NM_001042492.3(NF1):c.7322-16A>G	rs369168102	0.00029
NM_001126108.2(SLC12A3):c.1825+5G>A	rs368509876	0.00029
NM_001360.3(DHCR7):c.988G>A (p.Val330Met)	rs139724817	0.00029
NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala)	rs377767450	0.00029
NM_006939.4(SOS2):c.3952C>T (p.Pro1318Ser)	rs140995728	0.00029
NM_014159.7(SETD2):c.590C>T (p.Ala197Val)	rs374950143	0.00029
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)	rs137905181	0.00029
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val)	rs201475055	0.00029
NM_025137.4(SPG11):c.1775C>T (p.Ser592Leu)	rs373796566	0.00029
NM_031935.3(HMCN1):c.36G>C (p.Leu12=)	rs76631922	0.00029
NM_133433.4(NIPBL):c.179A>G (p.Asn60Ser)	rs142703446	0.00029
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala)	rs184693266	0.00029
NM_000033.4(ABCD1):c.181G>A (p.Ala61Thr)	rs782134465	0.00028
NM_000379.4(XDH):c.3771G>A (p.Ser1257=)	rs45594136	0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	rs5030868	0.00028
NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu)	rs145540754	0.00028
NM_000531.6(OTC):c.941A>C (p.Glu314Ala)	rs137899554	0.00028
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=)	rs34654141	0.00028
NM_001148.6(ANK2):c.7943G>A (p.Gly2648Asp)	rs563254150	0.00028
NM_001365088.1(SLC12A6):c.2106T>C (p.Tyr702=)	rs145775351	0.00028
NM_001377295.2(GNAT2):c.369C>T (p.Leu123=)	rs12046787	0.00028
NM_020366.4(RPGRIP1):c.1920C>T (p.Ala640=)	rs368434311	0.00028
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His)	rs80358359	0.00028
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)	rs28940279	0.00027
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=)	rs372456815	0.00027
NM_000069.3(CACNA1S):c.1395C>T (p.Asp465=)	rs189129662	0.00027
NM_000243.3(MEFV):c.231C>A (p.Ile77=)	rs139899201	0.00027
NM_000455.5(STK11):c.*8C>T	rs587782259	0.00027
NM_001025603.2(RFX5):c.1569G>A (p.Glu523=)	rs137968641	0.00027
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=)	rs142636150	0.00027
NM_001130438.3(SPTAN1):c.4536C>T (p.Ile1512=)	rs367772623	0.00027
NM_001148.6(ANK2):c.6633C>T (p.Ala2211=)	rs143516811	0.00027
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)	rs104895032	0.00027
NM_003060.4(SLC22A5):c.529A>G (p.Met177Val)	rs145068530	0.00027
NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met)	rs368913905	0.00027
NM_006939.4(SOS2):c.2640A>G (p.Ser880=)	rs146730136	0.00027
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)	rs121908641	0.00027
NM_000053.4(ATP7B):c.3368C>T (p.Pro1123Leu)	rs146623472	0.00026
NM_000057.4(BLM):c.191A>T (p.Asp64Val)	rs140382474	0.00026
NM_000069.3(CACNA1S):c.324C>T (p.Tyr108=)	rs200487405	0.00026
NM_000152.5(GAA):c.2736G>A (p.Ala912=)	rs142472738	0.00026
NM_000152.5(GAA):c.32G>A (p.Arg11Gln)	rs138812846	0.00026
NM_000317.3(PTS):c.195T>C (p.Pro65=)	rs143472856	0.00026
NM_000548.5(TSC2):c.1120-17C>T	rs201704675	0.00026
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp)	rs45517328	0.00026
NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=)	rs148929192	0.00026
NM_001126108.2(SLC12A3):c.1926-10C>G	rs375828467	0.00026
NM_001367624.2(ZNF469):c.6179C>A (p.Ser2060Tyr)	rs273585623	0.00026
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val)	rs386134199	0.00026
NM_003072.5(SMARCA4):c.442G>A (p.Gly148Arg)	rs138689221	0.00026
NM_012203.2(GRHPR):c.468C>T (p.Val156=)	rs142509393	0.00026
NM_014363.6(SACS):c.12438G>A (p.Ser4146=)	rs150959878	0.00026
NM_014795.4(ZEB2):c.1438G>T (p.Ala480Ser)	rs143854197	0.00026
NM_014795.4(ZEB2):c.1735A>G (p.Thr579Ala)	rs140593583	0.00026
NM_024996.7(GFM1):c.1831C>T (p.Leu611=)	rs190393538	0.00026
NM_206933.4(USH2A):c.10374G>A (p.Thr3458=)	rs137963595	0.00026
NM_000053.4(ATP7B):c.1291T>C (p.Cys431Arg)	rs145173864	0.00025
NM_000098.3(CPT2):c.236A>C (p.Lys79Thr)	rs150888506	0.00025
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)	rs142931246	0.00025
NM_000441.2(SLC26A4):c.-3-2A>G	rs397516411	0.00025
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=)	rs112829030	0.00025
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp)	rs45517295	0.00025
NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val)	rs202068995	0.00025
NM_000548.5(TSC2):c.5262C>G (p.Ile1754Met)	rs397515318	0.00025
NM_001126108.2(SLC12A3):c.1732G>A (p.Val578Met)	rs139329616	0.00025
NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile)	rs202124287	0.00025
NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=)	rs201566142	0.00025
NM_001918.5(DBT):c.670G>T (p.Glu224Ter)	rs74103423	0.00025
NM_022455.5(NSD1):c.3187A>G (p.Thr1063Ala)	rs193290006	0.00025
NM_022455.5(NSD1):c.7908C>T (p.Leu2636=)	rs143159630	0.00025
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=)	rs147719822	0.00025
NM_201253.3(CRB1):c.2230C>A (p.Arg744=)	rs150412614	0.00025
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)	rs201738967	0.00024
NM_000093.5(COL5A1):c.4393-19C>T	rs186732287	0.00024
NM_000152.5(GAA):c.2323C>A (p.Leu775Met)	rs147290429	0.00024
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met)	rs140559111	0.00024
NM_001130438.3(SPTAN1):c.2025T>C (p.Arg675=)	rs145870898	0.00024
NM_001267550.2(TTN):c.15552C>T (p.Thr5184=)	rs146353237	0.00024
NM_001365088.1(SLC12A6):c.2565G>A (p.Thr855=)	rs201062811	0.00024
NM_001918.5(DBT):c.37A>G (p.Asn13Asp)	rs140308307	0.00024
NM_014363.6(SACS):c.8577C>T (p.His2859=)	rs140016265	0.00024
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu)	rs11243731	0.00024
NM_020822.3(KCNT1):c.3495C>T (p.Thr1165=)	rs374429090	0.00024
NM_031935.3(HMCN1):c.861G>A (p.Val287=)	rs138455877	0.00024
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)	rs137852849	0.00024
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg)	rs201131924	0.00023
NM_000033.4(ABCD1):c.249C>T (p.Phe83=)	rs782628755	0.00023
NM_000069.3(CACNA1S):c.3616C>T (p.Leu1206=)	rs148105111	0.00023
NM_000243.3(MEFV):c.1677C>T (p.Leu559=)	rs144672997	0.00023
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_000277.3(PAH):c.1161C>T (p.Tyr387=)	rs149595475	0.00023
NM_000368.5(TSC1):c.1936A>G (p.Met646Val)	rs145741748	0.00023
NM_000368.5(TSC1):c.2653C>T (p.Arg885Trp)	rs118203723	0.00023
NM_000455.5(STK11):c.1194G>A (p.Ala398=)	rs184271025	0.00023
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=)	rs137960127	0.00023
NM_001042492.3(NF1):c.7554C>G (p.Ala2518=)	rs141897690	0.00023
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)	rs121912707	0.00023
NM_001365088.1(SLC12A6):c.1012C>T (p.Arg338Cys)	rs77122016	0.00023
NM_001918.5(DBT):c.901C>T (p.Arg301Cys)	rs185492864	0.00023
NM_003060.4(SLC22A5):c.-26G>A	rs369724970	0.00023
NM_014795.4(ZEB2):c.462G>A (p.Glu154=)	rs372940559	0.00023
NM_020822.3(KCNT1):c.3694G>A (p.Glu1232Lys)	rs138109494	0.00023
NM_030787.4(CFHR5):c.508G>A (p.Val170Met)	rs201073457	0.00023
NM_152296.5(ATP1A3):c.1192+6C>T	rs367771319	0.00023
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)	rs143240767	0.00023
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=)	rs200324179	0.00022
NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His)	rs4915212	0.00022
NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=)	rs141717649	0.00022
NM_000098.3(CPT2):c.149C>A (p.Pro50His)	rs28936375	0.00022
NM_000368.5(TSC1):c.1006C>T (p.Arg336Trp)	rs118203483	0.00022
NM_000546.6(TP53):c.216C>T (p.Pro72=)	rs56275308	0.00022
NM_000548.5(TSC2):c.1443+4C>T	rs45517172	0.00022
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr)	rs397515223	0.00022
NM_000548.5(TSC2):c.2712C>G (p.Phe904Leu)	rs137920189	0.00022
NM_001148.6(ANK2):c.2850C>A (p.Gly950=)	rs189563238	0.00022
NM_001367561.1(DOCK7):c.6045C>T (p.Pro2015=)	rs202231787	0.00022
NM_014795.4(ZEB2):c.304A>T (p.Ile102Phe)	rs201109457	0.00022
NM_022455.5(NSD1):c.2968G>A (p.Glu990Lys)	rs138673583	0.00022
NM_032520.5(GNPTG):c.67G>C (p.Gly23Arg)	rs547624231	0.00022
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala)	rs145392789	0.00022
NM_000017.4(ACADS):c.465C>T (p.Ser155=)	rs141492002	0.00021
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp)	rs199874575	0.00021
NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr)	rs139289704	0.00021
NM_000069.3(CACNA1S):c.1949-7C>T	rs368564115	0.00021
NM_000093.5(COL5A1):c.1774-7C>A	rs371941850	0.00021
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)	rs141017311	0.00021
NM_000152.5(GAA):c.922C>T (p.His308Tyr)	rs112025212	0.00021
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)	rs104894636	0.00021
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys)	rs201839693	0.00021
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)	rs121918167	0.00021
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)	rs141949212	0.00021
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu)	rs143473912	0.00021
NM_000512.5(GALNS):c.771C>T (p.Ala257=)	rs370586494	0.00021
NM_000548.5(TSC2):c.167A>G (p.Asn56Ser)	rs144165984	0.00021
NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=)	rs374749325	0.00021
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=)	rs147021347	0.00021
NM_000709.4(BCKDHA):c.125A>G (p.Gln42Arg)	rs150177278	0.00021
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=)	rs144654282	0.00021
NM_001148.6(ANK2):c.2592T>C (p.Pro864=)	rs138641014	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_017617.5(NOTCH1):c.2970-9C>T	rs568052902	0.00021
NM_020822.3(KCNT1):c.1620-17C>T	rs376069264	0.00021
NM_025137.4(SPG11):c.5315G>A (p.Arg1772His)	rs150823040	0.00021
NM_152281.3(GORAB):c.663-12A>G	rs201410218	0.00021
NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=)	rs375255226	0.00021
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu)	rs28941773	0.00020
NM_000202.8(IDS):c.104A>G (p.Asp35Gly)	rs144081417	0.00020
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)	rs199475598	0.00020
NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=)	rs150860491	0.00020
NM_000546.6(TP53):c.74+14T>C	rs184743157	0.00020
NM_000548.5(TSC2):c.3420C>T (p.Gly1140=)	rs373968155	0.00020
NM_006939.4(SOS2):c.2712A>G (p.Glu904=)	rs143332839	0.00020
NM_013275.6(ANKRD11):c.5178C>T (p.Ser1726=)	rs200783129	0.00020
NM_014363.6(SACS):c.7200T>C (p.Phe2400=)	rs148544893	0.00020
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val)	rs104886192	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_000033.4(ABCD1):c.1455A>C (p.Ser485=)	rs150878397	0.00019
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=)	rs150940930	0.00019
NM_000093.5(COL5A1):c.2844+20G>A	rs200916696	0.00019
NM_000151.4(G6PC1):c.992C>T (p.Ala331Val)	rs149486847	0.00019
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)	rs146762316	0.00019
NM_000152.5(GAA):c.250G>A (p.Val84Ile)	rs139595011	0.00019
NM_000152.5(GAA):c.693-4G>T	rs200088236	0.00019
NM_000275.3(OCA2):c.1160C>T (p.Thr387Met)	rs150335311	0.00019
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)	rs118203532	0.00019
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)	rs28939086	0.00019
NM_000455.5(STK11):c.1296G>A (p.Gln432=)	rs587781179	0.00019
NM_000548.5(TSC2):c.251C>T (p.Ala84Val)	rs35660529	0.00019
NM_000548.5(TSC2):c.3892G>A (p.Val1298Met)	rs147284943	0.00019
NM_000548.5(TSC2):c.4045G>A (p.Ala1349Thr)	rs146239734	0.00019
NM_000548.5(TSC2):c.4662+17G>A	rs45443002	0.00019
NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln)	rs45506695	0.00019
NM_000702.4(ATP1A2):c.*15G>A	rs187737212	0.00019
NM_001126108.2(SLC12A3):c.81C>G (p.Ser27Arg)	rs201850644	0.00019
NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn)	rs367776636	0.00019
NM_001365088.1(SLC12A6):c.966C>T (p.Gly322=)	rs142496698	0.00019
NM_002485.5(NBN):c.37+6G>A	rs540868733	0.00019
NM_004525.3(LRP2):c.11478G>A (p.Ala3826=)	rs150464677	0.00019
NM_004525.3(LRP2):c.13359C>T (p.Ser4453=)	rs202161925	0.00019
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr)	rs76872266	0.00019
NM_014363.6(SACS):c.7647T>G (p.Leu2549=)	rs186301471	0.00019
NM_015346.4(ZFYVE26):c.748G>A (p.Glu250Lys)	rs200340910	0.00019
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)	rs201312386	0.00019
NM_017617.5(NOTCH1):c.2037C>T (p.Ile679=)	rs367591933	0.00019
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr)	rs749672769	0.00019
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe)	rs145419141	0.00019
NM_201253.3(CRB1):c.2462C>T (p.Thr821Met)	rs142857810	0.00019
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=)	rs147930567	0.00019
NM_000033.4(ABCD1):c.1215G>A (p.Ser405=)	rs138233092	0.00018
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg)	rs757549770	0.00018
NM_000093.5(COL5A1):c.2799+11G>A	rs377322092	0.00018
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys)	rs138065338	0.00018
NM_000455.5(STK11):c.618G>A (p.Ala206=)	rs370976710	0.00018
NM_000546.6(TP53):c.1014C>T (p.Phe338=)	rs150293825	0.00018
NM_000546.6(TP53):c.560-8G>C	rs373797299	0.00018
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr)	rs45505895	0.00018
NM_000548.5(TSC2):c.3429C>T (p.Asp1143=)	rs45487691	0.00018
NM_000642.3(AGL):c.3884G>A (p.Arg1295His)	rs140481863	0.00018
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro)	rs121909379	0.00018
NM_001182.5(ALDH7A1):c.193-20C>T	rs199762757	0.00018
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln)	rs147474255	0.00018
NM_001367561.1(DOCK7):c.1292G>C (p.Gly431Ala)	rs201785444	0.00018
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu)	rs192236678	0.00018
NM_003060.4(SLC22A5):c.1377A>G (p.Arg459=)	rs142264458	0.00018
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met)	rs114269482	0.00018
NM_004525.3(LRP2):c.8073C>T (p.His2691=)	rs146772976	0.00018
NM_004924.6(ACTN4):c.2652G>A (p.Ala884=)	rs202127035	0.00018
NM_017617.5(NOTCH1):c.2218G>A (p.Asp740Asn)	rs200816814	0.00018
NM_017617.5(NOTCH1):c.383G>A (p.Arg128His)	rs754086897	0.00018
NM_020822.3(KCNT1):c.3001A>G (p.Thr1001Ala)	rs143780942	0.00018
NM_022455.5(NSD1):c.6444T>C (p.Asn2148=)	rs146601031	0.00018
NM_022455.5(NSD1):c.7352G>A (p.Arg2451Lys)	rs200115665	0.00018
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)	rs199821556	0.00017
NM_000093.5(COL5A1):c.279G>A (p.Ala93=)	rs145090868	0.00017
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu)	rs28936700	0.00017
NM_000243.3(MEFV):c.1770G>A (p.Leu590=)	rs139692347	0.00017
NM_000372.5(TYR):c.915C>A (p.Asp305Glu)	rs142170797	0.00017
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)	rs137853096	0.00017
NM_000455.5(STK11):c.597+8C>T	rs565387911	0.00017
NM_000512.5(GALNS):c.850T>G (p.Phe284Val)	rs144067930	0.00017
NM_000546.6(TP53):c.648G>C (p.Val216=)	rs199693249	0.00017
NM_000548.5(TSC2):c.148A>G (p.Met50Val)	rs140618379	0.00017
NM_000642.3(AGL):c.4575T>A (p.Ile1525=)	rs372116308	0.00017
NM_001148.6(ANK2):c.2249A>G (p.Gln750Arg)	rs371787039	0.00017
NM_003060.4(SLC22A5):c.852C>T (p.Leu284=)	rs146185976	0.00017
NM_014363.6(SACS):c.11928T>C (p.Ser3976=)	rs145680118	0.00017
NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn)	rs548083258	0.00017
NM_022455.5(NSD1):c.1558G>A (p.Ala520Thr)	rs559617787	0.00017
NM_025137.4(SPG11):c.4873C>T (p.Leu1625Phe)	rs371716779	0.00017
NM_030787.4(CFHR5):c.880G>A (p.Glu294Lys)	rs201084185	0.00017
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln)	rs149629686	0.00017
NM_172250.3(MMAA):c.630A>G (p.Pro210=)	rs374347679	0.00017
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg)	rs373604102	0.00017
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=)	rs141110958	0.00016
NM_000053.4(ATP7B):c.445G>A (p.Val149Met)	rs200606656	0.00016
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)	rs149968110	0.00016
NM_000157.4(GBA1):c.882T>G (p.His294Gln)	rs367968666	0.00016
NM_000237.3(LPL):c.1325T>G (p.Val442Gly)	rs116403115	0.00016
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)	rs104895080	0.00016
NM_000268.4(NF2):c.613A>G (p.Met205Val)	rs141629512	0.00016
NM_000368.5(TSC1):c.1333+14G>A	rs371733518	0.00016
NM_000368.5(TSC1):c.3435G>A (p.Pro1145=)	rs140352085	0.00016
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=)	rs187447337	0.00016
NM_000492.4(CFTR):c.489+3A>G	rs377729736	0.00016
NM_000520.6(HEXA):c.582G>A (p.Ala194=)	rs112614306	0.00016
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=)	rs148945108	0.00016
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val)	rs374936223	0.00016
NM_000548.5(TSC2):c.3276G>A (p.Pro1092=)	rs368923127	0.00016
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys)	rs370404391	0.00016
NM_000548.5(TSC2):c.649-9C>G	rs781099543	0.00016
NM_000709.4(BCKDHA):c.420G>A (p.Thr140=)	rs143608852	0.00016
NM_001042492.3(NF1):c.3672G>A (p.Ala1224=)	rs151293900	0.00016
NM_001126108.2(SLC12A3):c.2160C>T (p.Gly720=)	rs147984554	0.00016
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu)	rs146403088	0.00016
NM_002485.5(NBN):c.278C>T (p.Ser93Leu)	rs12721593	0.00016
NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu)	rs75783492	0.00016
NM_004172.5(SLC1A3):c.1425-8G>C	rs202233020	0.00016
NM_004525.3(LRP2):c.12687T>C (p.Gly4229=)	rs140195786	0.00016
NM_006939.4(SOS2):c.3076-17A>T	rs200184350	0.00016
NM_007214.5(SEC63):c.340-8T>C	rs1569556	0.00016
NM_014363.6(SACS):c.10298C>T (p.Thr3433Ile)	rs200991790	0.00016
NM_014363.6(SACS):c.12765G>A (p.Arg4255=)	rs139692779	0.00016
NM_014363.6(SACS):c.3282C>T (p.Asn1094=)	rs145499245	0.00016
NM_014363.6(SACS):c.4302A>G (p.Leu1434=)	rs34559250	0.00016
NM_014363.6(SACS):c.99T>C (p.Asp33=)	rs775206528	0.00016
NM_014915.3(ANKRD26):c.1635+9T>C	rs199590440	0.00016
NM_015915.5(ATL1):c.991-6T>G	rs192428744	0.00016
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser)	rs367825691	0.00016
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser)	rs373932824	0.00016
NM_057176.3(BSND):c.139G>A (p.Gly47Arg)	rs74315289	0.00016
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg)	rs199546324	0.00016
NM_133433.4(NIPBL):c.2903A>G (p.Asn968Ser)	rs180747605	0.00016
NM_152296.5(ATP1A3):c.6+3A>G	rs369853936	0.00016
NM_182760.4(SUMF1):c.606G>A (p.Pro202=)	rs141957829	0.00016
NM_206933.4(USH2A):c.12399G>A (p.Glu4133=)	rs150406015	0.00016
NM_000069.3(CACNA1S):c.258+6A>G	rs376899610	0.00015
NM_000069.3(CACNA1S):c.3606C>T (p.Ile1202=)	rs189797100	0.00015
NM_000069.3(CACNA1S):c.3777G>A (p.Thr1259=)	rs147646714	0.00015
NM_000093.5(COL5A1):c.3114+12G>C	rs528913410	0.00015
NM_000093.5(COL5A1):c.4383C>T (p.Pro1461=)	rs368551709	0.00015
NM_000093.5(COL5A1):c.4941C>T (p.Pro1647=)	rs747549921	0.00015
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val)	rs371412500	0.00015
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)	rs111033244	0.00015
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)	rs121909021	0.00015
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn)	rs45509392	0.00015
NM_000548.5(TSC2):c.2356-15T>A	rs189674303	0.00015
NM_000548.5(TSC2):c.300G>A (p.Ala100=)	rs45517100	0.00015
NM_000548.5(TSC2):c.4044C>T (p.His1348=)	rs137854084	0.00015
NM_000548.5(TSC2):c.5289C>T (p.Pro1763=)	rs144965811	0.00015
NM_000548.5(TSC2):c.552C>T (p.Val184=)	rs199991910	0.00015
NM_001099922.3(ALG13):c.2654T>C (p.Ile885Thr)	rs781459134	0.00015
NM_001369.3(DNAH5):c.2400G>A (p.Glu800=)	rs199951976	0.00015
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)	rs201728850	0.00015
NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter)	rs372754256	0.00015
NM_002485.5(NBN):c.1036G>A (p.Val346Met)	rs200297914	0.00015
NM_002485.5(NBN):c.38-10T>A	rs556807466	0.00015
NM_006939.4(SOS2):c.599A>G (p.Tyr200Cys)	rs148595463	0.00015
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser)	rs370655945	0.00015
NM_014363.6(SACS):c.3345C>T (p.Val1115=)	rs143287019	0.00015
NM_014795.4(ZEB2):c.10C>G (p.Pro4Ala)	rs146394306	0.00015
NM_017617.5(NOTCH1):c.2353+14G>A	rs140288481	0.00015
NM_017617.5(NOTCH1):c.454G>A (p.Gly152Ser)	rs750242131	0.00015
NM_017617.5(NOTCH1):c.591C>T (p.Asn197=)	rs370684825	0.00015
NM_025137.4(SPG11):c.1121C>G (p.Ser374Cys)	rs144403346	0.00015
NM_025137.4(SPG11):c.5011C>T (p.His1671Tyr)	rs141011688	0.00015
NM_000017.4(ACADS):c.825C>T (p.Ile275=)	rs200652158	0.00014
NM_000033.4(ABCD1):c.1780+4G>A	rs193922095	0.00014
NM_000033.4(ABCD1):c.2044G>C (p.Glu682Gln)	rs781793261	0.00014
NM_000033.4(ABCD1):c.420C>A (p.Ile140=)	rs74315279	0.00014
NM_000033.4(ABCD1):c.901-5C>T	rs782603062	0.00014
NM_000049.4(ASPA):c.427A>G (p.Ile143Val)	rs199565861	0.00014
NM_000053.4(ATP7B):c.226A>G (p.Ile76Val)	rs200642204	0.00014
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe)	rs200563529	0.00014
NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln)	rs377474103	0.00014
NM_000093.5(COL5A1):c.3906+19C>T	rs571788196	0.00014
NM_000152.5(GAA):c.1593C>T (p.Asp531=)	rs138732016	0.00014
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala)	rs397515869	0.00014
NM_000243.3(MEFV):c.331G>A (p.Gly111Arg)	rs112739451	0.00014
NM_000268.4(NF2):c.107A>G (p.Asn36Ser)	rs372279458	0.00014
NM_000268.4(NF2):c.240+15C>T	rs200701337	0.00014
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp)	rs118203745	0.00014
NM_000368.5(TSC1):c.532G>A (p.Val178Ile)	rs118203395	0.00014
NM_000372.5(TYR):c.1467dup (p.Ala490fs)	rs61754399	0.00014
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter)	rs766383135	0.00014
NM_000546.6(TP53):c.672+18G>C	rs199578278	0.00014
NM_000548.5(TSC2):c.1947-3C>T	rs201106259	0.00014
NM_000548.5(TSC2):c.20A>G (p.Lys7Arg)	rs137854215	0.00014
NM_000548.5(TSC2):c.3379C>T (p.Arg1127Trp)	rs373939435	0.00014
NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys)	rs45517409	0.00014
NM_000642.3(AGL):c.4027G>A (p.Glu1343Lys)	rs112795811	0.00014
NM_000642.3(AGL):c.846+14G>A	rs376827010	0.00014
NM_001042432.2(CLN3):c.677+8G>A	rs368568189	0.00014
NM_001042492.3(NF1):c.7368A>G (p.Lys2456=)	rs201287021	0.00014
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)	rs140012781	0.00014
NM_001126108.2(SLC12A3):c.1968G>A (p.Pro656=)	rs150378634	0.00014
NM_001130438.3(SPTAN1):c.7161-8G>A	rs202180736	0.00014
NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu)	rs35194393	0.00014
NM_002016.2(FLG):c.6239C>A (p.Ser2080Ter)	rs147145234	0.00014
NM_002485.5(NBN):c.266G>C (p.Arg89Pro)	rs747315554	0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile)	rs201816949	0.00014
NM_006912.6(RIT1):c.237+10C>A	rs367785615	0.00014
NM_006939.4(SOS2):c.2057+19T>A	rs544924513	0.00014
NM_014795.4(ZEB2):c.1848T>G (p.Pro616=)	rs144835963	0.00014
NM_014795.4(ZEB2):c.2457A>G (p.Ser819=)	rs144184948	0.00014
NM_017617.5(NOTCH1):c.2191C>T (p.Arg731Trp)	rs199666126	0.00014
NM_017617.5(NOTCH1):c.3597C>T (p.Leu1199=)	rs150666307	0.00014
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)	rs34647222	0.00014
NM_022455.5(NSD1):c.2339C>T (p.Ser780Leu)	rs201327209	0.00014
NM_030787.4(CFHR5):c.1155G>T (p.Arg385Ser)	rs141358257	0.00014
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=)	rs200440893	0.00014
NM_133433.4(NIPBL):c.2448T>C (p.Arg816=)	rs139177541	0.00014
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter)	rs398124598	0.00014
NM_206933.4(USH2A):c.127G>A (p.Val43Met)	rs147421006	0.00014
NM_000022.4(ADA):c.591T>A (p.His197Gln)	rs142456343	0.00013
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)	rs138945081	0.00013
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp)	rs200137051	0.00013
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)	rs137852623	0.00013
NM_000023.4(SGCA):c.981C>T (p.Ser327=)	rs368522117	0.00013
NM_000049.4(ASPA):c.212G>A (p.Arg71His)	rs104894553	0.00013
NM_000051.4(ATM):c.8156G>A (p.Arg2719His)	rs55982963	0.00013
NM_000053.4(ATP7B):c.1544-12T>C	rs201167060	0.00013
NM_000053.4(ATP7B):c.3243+5G>A	rs373193482	0.00013
NM_000069.3(CACNA1S):c.2906+17G>A	rs202089480	0.00013
NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys)	rs143933255	0.00013
NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu)	rs748345448	0.00013
NM_000169.3(GLA):c.1088G>A (p.Arg363His)	rs111422676	0.00013
NM_000199.5(SGSH):c.534C>T (p.His178=)	rs139484283	0.00013
NM_000268.4(NF2):c.1439C>T (p.Thr480Met)	rs145666157	0.00013
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala)	rs121909298	0.00013
NM_000360.4(TH):c.51C>T (p.Ala17=)	rs199645400	0.00013
NM_000368.5(TSC1):c.2209-3T>C	rs368309229	0.00013
NM_000368.5(TSC1):c.3024T>G (p.Asn1008Lys)	rs142954164	0.00013
NM_000492.4(CFTR):c.1679+16T>C	rs397508262	0.00013
NM_000512.5(GALNS):c.567-3C>T	rs549597016	0.00013
NM_000548.5(TSC2):c.*5G>A	rs201342697	0.00013
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala)	rs45517284	0.00013
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val)	rs45448801	0.00013
NM_000548.5(TSC2):c.4398G>T (p.Ser1466=)	rs376086638	0.00013
NM_000548.5(TSC2):c.4447A>G (p.Arg1483Gly)	rs199644840	0.00013
NM_000642.3(AGL):c.3084-8T>C	rs186402161	0.00013
NM_001042492.3(NF1):c.2032C>G (p.Pro678Ala)	rs758691069	0.00013
NM_001148.6(ANK2):c.8768A>G (p.Gln2923Arg)	rs551454026	0.00013
NM_001365999.1(SZT2):c.9629G>A (p.Arg3210His)	rs371193436	0.00013
NM_001918.5(DBT):c.747C>A (p.Gly249=)	rs200612682	0.00013
NM_002485.5(NBN):c.1124+6G>T	rs375862750	0.00013
NM_003060.4(SLC22A5):c.1440C>T (p.Phe480=)	rs150457229	0.00013
NM_003982.4(SLC7A7):c.339A>C (p.Gly113=)	rs139270936	0.00013
NM_004525.3(LRP2):c.12296-7T>A	rs200755164	0.00013
NM_004525.3(LRP2):c.5553C>T (p.His1851=)	rs369998522	0.00013
NM_004924.6(ACTN4):c.1902C>T (p.Asp634=)	rs139162351	0.00013
NM_014363.6(SACS):c.10909A>G (p.Met3637Val)	rs150309559	0.00013
NM_017617.5(NOTCH1):c.1837C>T (p.Arg613Cys)	rs763988265	0.00013
NM_017617.5(NOTCH1):c.19C>T (p.Pro7Ser)	rs1397523469	0.00013
NM_017617.5(NOTCH1):c.851C>T (p.Pro284Leu)	rs376104770	0.00013
NM_020366.4(RPGRIP1):c.658A>G (p.Met220Val)	rs371762530	0.00013
NM_025137.4(SPG11):c.4490A>G (p.Asn1497Ser)	rs747973076	0.00013
NM_030787.4(CFHR5):c.533A>G (p.Asn178Ser)	rs200427185	0.00013
NM_152296.5(ATP1A3):c.1500C>T (p.Ala500=)	rs146606627	0.00013
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	rs201527662	0.00013
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr)	rs528342000	0.00013
NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=)	rs145887771	0.00012
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr)	rs199773340	0.00012
NM_000069.3(CACNA1S):c.5008T>A (p.Tyr1670Asn)	rs146696748	0.00012
NM_000070.3(CAPN3):c.552G>A (p.Thr184=)	rs147808529	0.00012
NM_000093.5(COL5A1):c.3291C>T (p.Ala1097=)	rs371821655	0.00012
NM_000093.5(COL5A1):c.4968C>T (p.Val1656=)	rs201871481	0.00012
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	rs61752717	0.00012
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=)	rs367668576	0.00012
NM_000268.4(NF2):c.465C>T (p.Pro155=)	rs374911526	0.00012
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu)	rs118203481	0.00012
NM_000368.5(TSC1):c.1700C>T (p.Ala567Val)	rs397514880	0.00012
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln)	rs199755731	0.00012
NM_000368.5(TSC1):c.2647G>A (p.Ala883Thr)	rs118203721	0.00012
NM_000368.5(TSC1):c.467A>C (p.Asp156Ala)	rs893232039	0.00012
NM_000455.5(STK11):c.825G>A (p.Pro275=)	rs202011521	0.00012
NM_000548.5(TSC2):c.1599+10G>A	rs376692777	0.00012
NM_000548.5(TSC2):c.2546-5C>T	rs45517247	0.00012
NM_000548.5(TSC2):c.3611-4G>A	rs368926908	0.00012
NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys)	rs62642481	0.00012
NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu)	rs377123510	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_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala)	rs199649563	0.00012
NM_004525.3(LRP2):c.12756C>T (p.Asp4252=)	rs201793817	0.00012
NM_006939.4(SOS2):c.702G>A (p.Leu234=)	rs200208472	0.00012
NM_014363.6(SACS):c.1081A>G (p.Lys361Glu)	rs377027736	0.00012
NM_014795.4(ZEB2):c.2084G>A (p.Arg695Gln)	rs147693839	0.00012
NM_017617.5(NOTCH1):c.1146C>T (p.Asn382=)	rs368665838	0.00012
NM_017617.5(NOTCH1):c.2982C>T (p.Asn994=)	rs374100421	0.00012
NM_017617.5(NOTCH1):c.4179C>T (p.Gly1393=)	rs200664704	0.00012
NM_022124.6(CDH23):c.2235C>T (p.Ile745=)	rs368841307	0.00012
NM_030632.3(ASXL3):c.5173G>A (p.Asp1725Asn)	rs201072457	0.00012
NM_032861.4(SERAC1):c.266-11A>G	rs574469098	0.00012
NM_152296.5(ATP1A3):c.1192+3G>A	rs374542368	0.00012
NM_000069.3(CACNA1S):c.1256G>A (p.Arg419His)	rs370861322	0.00011
NM_000069.3(CACNA1S):c.3415-13G>T	rs755431424	0.00011
NM_000069.3(CACNA1S):c.3796-14C>T	rs377210987	0.00011
NM_000069.3(CACNA1S):c.4996G>A (p.Ala1666Thr)	rs145340252	0.00011
NM_000069.3(CACNA1S):c.5554G>A (p.Gly1852Arg)	rs540721779	0.00011
NM_000069.3(CACNA1S):c.951C>T (p.Leu317=)	rs773209639	0.00011
NM_000098.3(CPT2):c.1851T>C (p.His617=)	rs540322467	0.00011
NM_000186.4(CFH):c.2946A>G (p.Pro982=)	rs553471643	0.00011
NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn)	rs764274816	0.00011
NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn)	rs756322372	0.00011
NM_000243.3(MEFV):c.1522C>G (p.Leu508Val)	rs199937453	0.00011
NM_000268.4(NF2):c.1385G>A (p.Arg462His)	rs373650983	0.00011
NM_000275.3(OCA2):c.1785-7C>G	rs375281082	0.00011
NM_000368.5(TSC1):c.2425G>C (p.Glu809Gln)	rs118203692	0.00011
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)	rs111033205	0.00011
NM_000455.5(STK11):c.1038C>T (p.Gly346=)	rs767565606	0.00011
NM_000455.5(STK11):c.900C>T (p.Ile300=)	rs546089394	0.00011
NM_000455.5(STK11):c.920+5G>A	rs587780013	0.00011
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)	rs397508137	0.00011
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His)	rs376968326	0.00011
NM_000492.4(CFTR):c.547C>A (p.Leu183Ile)	rs397508751	0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)	rs191456345	0.00011
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln)	rs543222535	0.00011
NM_000531.6(OTC):c.140A>C (p.Asn47Thr)	rs67939655	0.00011
NM_000546.6(TP53):c.993+223T>G	rs3021068	0.00011
NM_000548.5(TSC2):c.223G>A (p.Glu75Lys)	rs145470784	0.00011
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys)	rs137854421	0.00011
NM_000548.5(TSC2):c.4226G>A (p.Arg1409Gln)	rs768684515	0.00011
NM_000548.5(TSC2):c.4352G>A (p.Arg1451His)	rs142848358	0.00011
NM_000548.5(TSC2):c.4579T>C (p.Phe1527Leu)	rs45514391	0.00011
NM_000642.3(AGL):c.3231G>A (p.Lys1077=)	rs138063386	0.00011
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter)	rs12118058	0.00011
NM_001042492.3(NF1):c.1599C>G (p.Val533=)	rs369458366	0.00011
NM_001042492.3(NF1):c.960T>A (p.Ala320=)	rs376447070	0.00011
NM_001126108.2(SLC12A3):c.2490C>T (p.Thr830=)	rs539069621	0.00011
NM_001164508.2(NEB):c.25165C>T (p.Arg8389Trp)	rs373551215	0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)	rs121964999	0.00011
NM_002485.5(NBN):c.1914+10G>A	rs577706448	0.00011
NM_002485.5(NBN):c.37+10G>C	rs369408590	0.00011
NM_002529.4(NTRK1):c.1257G>A (p.Ser419=)	rs750968694	0.00011
NM_002529.4(NTRK1):c.1808C>G (p.Ser603Cys)	rs188270548	0.00011
NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys)	rs11568437	0.00011
NM_003982.4(SLC7A7):c.549A>C (p.Val183=)	rs146945921	0.00011
NM_004004.6(GJB2):c.23C>T (p.Thr8Met)	rs529500747	0.00011
NM_004525.3(LRP2):c.5370A>G (p.Gln1790=)	rs201155152	0.00011
NM_006493.4(CLN5):c.1026A>G (p.Thr342=)	rs200637649	0.00011
NM_006939.4(SOS2):c.1263T>C (p.Asn421=)	rs369267864	0.00011
NM_014363.6(SACS):c.5841C>T (p.Pro1947=)	rs145371235	0.00011
NM_014795.4(ZEB2):c.1840C>T (p.Leu614=)	rs145201706	0.00011
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln)	rs368011392	0.00011
NM_018136.5(ASPM):c.8524C>T (p.Arg2842Trp)	rs112946633	0.00011
NM_025132.4(WDR19):c.3027C>T (p.Asp1009=)	rs181975379	0.00011
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys)	rs183276875	0.00011
NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser)	rs368028754	0.00011
NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr)	rs138242579	0.00011
NM_206933.4(USH2A):c.10059G>A (p.Pro3353=)	rs147842359	0.00011
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)	rs143344549	0.00011
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met)	rs139065588	0.00011
NM_206933.4(USH2A):c.1935A>T (p.Thr645=)	rs146670690	0.00011
NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser)	rs376472029	0.00010
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)	rs118204429	0.00010
NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met)	rs183195890	0.00010
NM_000093.5(COL5A1):c.5034G>A (p.Ser1678=)	rs148006741	0.00010
NM_000152.5(GAA):c.1758G>A (p.Ala586=)	rs79795428	0.00010
NM_000152.5(GAA):c.1920T>G (p.Pro640=)	rs144090460	0.00010
NM_000152.5(GAA):c.2319C>T (p.Tyr773=)	rs377402848	0.00010
NM_000199.5(SGSH):c.250-15C>T	rs369082713	0.00010
NM_000199.5(SGSH):c.417G>A (p.Thr139=)	rs142729872	0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)	rs104895097	0.00010
NM_000268.4(NF2):c.1445C>G (p.Pro482Arg)	rs766339217	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_000337.6(SGCD):c.3+11C>T	rs374790317	0.00010
NM_000368.5(TSC1):c.3125G>T (p.Ser1042Ile)	rs148931779	0.00010
NM_000368.5(TSC1):c.3303G>A (p.Glu1101=)	rs118203751	0.00010
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val)	rs111033423	0.00010
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)	rs111033309	0.00010
NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg)	rs371459975	0.00010
NM_000546.6(TP53):c.673-37C>T	rs374907737	0.00010
NM_000548.5(TSC2):c.1577G>C (p.Ser526Thr)	rs376573446	0.00010
NM_000548.5(TSC2):c.2986A>G (p.Thr996Ala)	rs139753238	0.00010
NM_000548.5(TSC2):c.3468A>G (p.Pro1156=)	rs147242130	0.00010
NM_000548.5(TSC2):c.4510C>T (p.Leu1504Phe)	rs747613240	0.00010
NM_000548.5(TSC2):c.4565A>G (p.Asn1522Ser)	rs144062721	0.00010
NM_000548.5(TSC2):c.619G>A (p.Val207Ile)	rs139929314	0.00010
NM_000642.3(AGL):c.3290G>A (p.Arg1097His)	rs185947256	0.00010
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His)	rs775471043	0.00010
NM_001182.5(ALDH7A1):c.1305C>G (p.Val435=)	rs142975776	0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)	rs104893688	0.00010
NM_002016.2(FLG):c.7837A>T (p.Arg2613Ter)	rs567795279	0.00010
NM_002529.4(NTRK1):c.659G>A (p.Arg220Gln)	rs540751200	0.00010
NM_004525.3(LRP2):c.8112C>A (p.Ser2704=)	rs148473513	0.00010
NM_004525.3(LRP2):c.9066C>T (p.Ser3022=)	rs374380173	0.00010
NM_004629.2(FANCG):c.722C>T (p.Pro241Leu)	rs201438531	0.00010
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)	rs546989392	0.00010
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu)	rs76672402	0.00010
NM_014159.7(SETD2):c.1180T>C (p.Cys394Arg)	rs368465960	0.00010
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn)	rs372359781	0.00010
NM_015915.5(ATL1):c.306C>A (p.Asp102Glu)	rs145204580	0.00010
NM_017617.5(NOTCH1):c.2969+14G>A	rs112192550	0.00010
NM_017617.5(NOTCH1):c.4372G>A (p.Ala1458Thr)	rs200495793	0.00010
NM_017617.5(NOTCH1):c.4537G>A (p.Gly1513Ser)	rs765844768	0.00010
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro)	rs201779159	0.00010
NM_020366.4(RPGRIP1):c.2334T>C (p.Asp778=)	rs188318743	0.00010
NM_030632.3(ASXL3):c.195G>A (p.Gly65=)	rs371104233	0.00010
NM_032520.5(GNPTG):c.510C>T (p.His170=)	rs202240106	0.00010
NM_032861.4(SERAC1):c.1933C>T (p.Arg645Cys)	rs114624250	0.00010
NM_152296.5(ATP1A3):c.2226C>T (p.Asp742=)	rs146600566	0.00010
NM_152296.5(ATP1A3):c.2559C>T (p.Leu853=)	rs369555293	0.00010
NM_000017.4(ACADS):c.1108A>G (p.Met370Val)	rs566325901	0.00009
NM_000022.4(ADA):c.632G>A (p.Arg211His)	rs121908716	0.00009
NM_000053.4(ATP7B):c.2731-2A>G	rs367956522	0.00009
NM_000053.4(ATP7B):c.2994C>T (p.Gly998=)	rs373102009	0.00009
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)	rs374094065	0.00009
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=)	rs370947152	0.00009
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser)	rs762866453	0.00009
NM_000053.4(ATP7B):c.610A>G (p.Met204Val)	rs200605351	0.00009
NM_000069.3(CACNA1S):c.1470G>A (p.Gln490=)	rs373712202	0.00009
NM_000069.3(CACNA1S):c.1881C>T (p.Tyr627=)	rs145689664	0.00009
NM_000069.3(CACNA1S):c.1935C>T (p.Phe645=)	rs550584336	0.00009
NM_000069.3(CACNA1S):c.1949-6G>A	rs373698107	0.00009
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)	rs149914792	0.00009
NM_000093.5(COL5A1):c.3691-9T>C	rs187584029	0.00009
NM_000169.3(GLA):c.865A>G (p.Ile289Val)	rs140329381	0.00009
NM_000186.4(CFH):c.2821G>T (p.Val941Phe)	rs529491401	0.00009
NM_000191.3(HMGCL):c.375C>T (p.Val125=)	rs139102957	0.00009
NM_000199.5(SGSH):c.780C>T (p.Ala260=)	rs530964770	0.00009
NM_000202.8(IDS):c.1227G>A (p.Thr409=)	rs201905166	0.00009
NM_000260.4(MYO7A):c.549G>A (p.Ser183=)	rs188198404	0.00009
NM_000268.4(NF2):c.1540A>G (p.Met514Val)	rs201527155	0.00009
NM_000275.3(OCA2):c.1479T>G (p.Val493=)	rs374434751	0.00009
NM_000275.3(OCA2):c.2245-6C>A	rs368772032	0.00009
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile)	rs765779905	0.00009
NM_000275.3(OCA2):c.2432+11A>G	rs145577954	0.00009
NM_000317.3(PTS):c.317C>T (p.Thr106Met)	rs200712908	0.00009
NM_000368.5(TSC1):c.1333+5A>G	rs118203515	0.00009
NM_000368.5(TSC1):c.1438+6G>A	rs118203530	0.00009
NM_000368.5(TSC1):c.2423C>T (p.Ala808Val)	rs756514375	0.00009
NM_000441.2(SLC26A4):c.1796C>T (p.Ala599Val)	rs201709908	0.00009
NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn)	rs138462416	0.00009
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile)	rs727505080	0.00009
NM_000455.5(STK11):c.735-9G>A	rs201899557	0.00009
NM_000455.5(STK11):c.787T>C (p.Leu263=)	rs372378119	0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)	rs121909011	0.00009
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=)	rs55928397	0.00009
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys)	rs199791061	0.00009
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)	rs140502196	0.00009
NM_000512.5(GALNS):c.857C>T (p.Thr286Met)	rs137927658	0.00009
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp)	rs774698247	0.00009
NM_000528.4(MAN2B1):c.2299C>T (p.Gln767Ter)	rs779769525	0.00009
NM_000528.4(MAN2B1):c.744G>A (p.Pro248=)	rs3745649	0.00009
NM_000546.6(TP53):c.474C>T (p.Arg158=)	rs139200646	0.00009
NM_000546.6(TP53):c.6G>A (p.Glu2=)	rs143458271	0.00009
NM_000642.3(AGL):c.1602C>T (p.His534=)	rs563472929	0.00009
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro)	rs398123508	0.00009
NM_001042492.3(NF1):c.2541T>C (p.Leu847=)	rs147433258	0.00009
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)	rs121909380	0.00009
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu)	rs375909006	0.00009
NM_001182.5(ALDH7A1):c.1287T>C (p.Phe429=)	rs375030056	0.00009
NM_001182.5(ALDH7A1):c.774-19C>T	rs373058643	0.00009
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)	rs145285434	0.00009
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile)	rs376478015	0.00009
NM_001386140.1(MTTP):c.915G>A (p.Ser305=)	rs199716549	0.00009
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys)	rs60376624	0.00009
NM_003982.4(SLC7A7):c.1128A>C (p.Glu376Asp)	rs139619724	0.00009
NM_004004.6(GJB2):c.487A>G (p.Met163Val)	rs80338949	0.00009
NM_004525.3(LRP2):c.10906C>T (p.Arg3636Trp)	rs747833963	0.00009
NM_006493.4(CLN5):c.-4C>T	rs587780896	0.00009
NM_006939.4(SOS2):c.3066A>G (p.Pro1022=)	rs201696354	0.00009
NM_017617.5(NOTCH1):c.4157C>T (p.Pro1386Leu)	rs367710569	0.00009
NM_017617.5(NOTCH1):c.527G>A (p.Arg176Gln)	rs375065108	0.00009
NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu)	rs199777870	0.00009
NM_020822.3(KCNT1):c.3039C>T (p.Thr1013=)	rs148001061	0.00009
NM_022455.5(NSD1):c.4187C>T (p.Thr1396Met)	rs747298351	0.00009
NM_022455.5(NSD1):c.7275A>G (p.Leu2425=)	rs139879749	0.00009
NM_025137.4(SPG11):c.6278G>A (p.Arg2093His)	rs376817637	0.00009
NM_030787.4(CFHR5):c.1116C>T (p.Asn372=)	rs556270179	0.00009
NM_032520.5(GNPTG):c.713G>A (p.Gly238Glu)	rs202080062	0.00009
NM_052845.4(MMAB):c.561C>T (p.Ala187=)	rs370773720	0.00009
NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser)	rs2291703	0.00009
NM_133433.4(NIPBL):c.6589+9A>T	rs370709104	0.00009
NM_152296.5(ATP1A3):c.2367G>A (p.Pro789=)	rs372737275	0.00009
NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile)	rs117934093	0.00009
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter)	rs144948296	0.00009
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)	rs79761867	0.00009
NM_206933.4(USH2A):c.2167+5G>A	rs771583281	0.00009
NM_000017.4(ACADS):c.*4C>T	rs774815274	0.00008
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys)	rs28940872	0.00008
NM_000033.4(ABCD1):c.821G>A (p.Arg274Gln)	rs781874815	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_000069.3(CACNA1S):c.2628G>T (p.Val876=)	rs200898535	0.00008
NM_000069.3(CACNA1S):c.297T>A (p.Ile99=)	rs202132932	0.00008
NM_000093.5(COL5A1):c.1935+12C>T	rs368245632	0.00008
NM_000093.5(COL5A1):c.5250G>A (p.Val1750=)	rs200348547	0.00008
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu)	rs145886270	0.00008
NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg)	rs201063698	0.00008
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln)	rs2229224	0.00008
NM_000152.5(GAA):c.1552-3C>G	rs375470378	0.00008
NM_000152.5(GAA):c.2041-4G>T	rs775757700	0.00008
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn)	rs758390382	0.00008
NM_000152.5(GAA):c.533G>A (p.Arg178His)	rs762267535	0.00008
NM_000152.5(GAA):c.711G>A (p.Ala237=)	rs368328598	0.00008
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)	rs577915581	0.00008
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)	rs886042086	0.00008
NM_000202.8(IDS):c.1144G>C (p.Asp382His)	rs370125505	0.00008
NM_000243.3(MEFV):c.765A>G (p.Ala255=)	rs771714168	0.00008
NM_000246.4(CIITA):c.2384G>A (p.Arg795Gln)	rs553503699	0.00008
NM_000268.4(NF2):c.879T>C (p.Asn293=)	rs151198477	0.00008
NM_000275.3(OCA2):c.1503+5G>A	rs368124046	0.00008
NM_000359.3(TGM1):c.420A>G (p.Ile140Met)	rs139208806	0.00008
NM_000368.5(TSC1):c.1276G>T (p.Asp426Tyr)	rs765695557	0.00008
NM_000368.5(TSC1):c.1567G>C (p.Ala523Pro)	rs118203548	0.00008
NM_000368.5(TSC1):c.2965G>T (p.Ala989Ser)	rs537585211	0.00008
NM_000368.5(TSC1):c.851G>A (p.Arg284His)	rs151309813	0.00008
NM_000372.5(TYR):c.613C>A (p.Pro205Thr)	rs61754362	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_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp)	rs397516426	0.00008
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp)	rs193922497	0.00008
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe)	rs143456784	0.00008
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile)	rs1800123	0.00008
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe)	rs118204438	0.00008
NM_000548.5(TSC2):c.3364C>T (p.Arg1122Cys)	rs397514938	0.00008
NM_000548.5(TSC2):c.760G>A (p.Glu254Lys)	rs45517126	0.00008
NM_001042492.3(NF1):c.6171A>T (p.Ile2057=)	rs140733963	0.00008
NM_001099922.3(ALG13):c.2369G>A (p.Gly790Glu)	rs745411126	0.00008
NM_001099922.3(ALG13):c.2933-15G>T	rs372767806	0.00008
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu)	rs148038173	0.00008
NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met)	rs145337602	0.00008
NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val)	rs373901523	0.00008
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln)	rs202114767	0.00008
NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr)	rs199849117	0.00008
NM_001876.4(CPT1A):c.145G>A (p.Gly49Ser)	rs552007692	0.00008
NM_003982.4(SLC7A7):c.123C>T (p.Asn41=)	rs367673752	0.00008
NM_006623.4(PHGDH):c.1255G>A (p.Gly419Arg)	rs145344767	0.00008
NM_006623.4(PHGDH):c.422C>T (p.Thr141Ile)	rs200037593	0.00008
NM_014363.6(SACS):c.6561C>T (p.Ile2187=)	rs143477126	0.00008
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)	rs747676277	0.00008
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu)	rs117229601	0.00008
NM_015978.3(TNNI3K):c.193G>T (p.Glu65Ter)	rs201061482	0.00008
NM_017617.5(NOTCH1):c.4373C>T (p.Ala1458Val)	rs374352922	0.00008
NM_017617.5(NOTCH1):c.6083-4G>A	rs570242146	0.00008
NM_022455.5(NSD1):c.6259-8A>T	rs370529039	0.00008
NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln)	rs775779700	0.00008
NM_025137.4(SPG11):c.1602+10T>G	rs201535432	0.00008
NM_032520.5(GNPTG):c.238_243del (p.Lys80_Tyr81del)	rs773452586	0.00008
NM_032520.5(GNPTG):c.758C>A (p.Ser253Ter)	rs761299690	0.00008
NM_052845.4(MMAB):c.91C>T (p.Arg31Cys)	rs142447736	0.00008
NM_133433.4(NIPBL):c.6312A>G (p.Lys2104=)	rs147865925	0.00008
NM_152296.5(ATP1A3):c.1131A>G (p.Thr377=)	rs143242360	0.00008
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter)	rs144539572	0.00008
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)	rs144332569	0.00008
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)	rs111033524	0.00008
NM_000017.4(ACADS):c.147C>G (p.Ala49=)	rs202193021	0.00007
NM_000022.4(ADA):c.320T>C (p.Leu107Pro)	rs121908739	0.00007
NM_000022.4(ADA):c.821C>T (p.Pro274Leu)	rs121908738	0.00007
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=)	rs199723613	0.00007
NM_000046.5(ARSB):c.475C>T (p.Arg159Cys)	rs202134230	0.00007
NM_000053.4(ATP7B):c.1415C>T (p.Pro472Leu)	rs771789585	0.00007
NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp)	rs539585071	0.00007
NM_000053.4(ATP7B):c.3151C>T (p.Leu1051=)	rs534622837	0.00007
NM_000069.3(CACNA1S):c.1324G>A (p.Val442Ile)	rs572977674	0.00007
NM_000069.3(CACNA1S):c.1780C>T (p.Arg594Cys)	rs200165212	0.00007
NM_000069.3(CACNA1S):c.4468C>T (p.Leu1490=)	rs149036408	0.00007
NM_000093.5(COL5A1):c.5154C>T (p.Ala1718=)	rs147434147	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_000186.4(CFH):c.350+9T>C	rs201686629	0.00007
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys)	rs190705322	0.00007
NM_000243.3(MEFV):c.536G>A (p.Ser179Asn)	rs104895125	0.00007
NM_000243.3(MEFV):c.866C>T (p.Ala289Val)	rs104895132	0.00007
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)	rs121918169	0.00007
NM_000368.5(TSC1):c.1051A>G (p.Met351Val)	rs781312535	0.00007
NM_000368.5(TSC1):c.2209-9C>G	rs118203660	0.00007
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu)	rs141482368	0.00007
NM_000455.5(STK11):c.-2G>T	rs774072752	0.00007
NM_000455.5(STK11):c.1127A>C (p.Glu376Ala)	rs373888280	0.00007
NM_000455.5(STK11):c.357C>T (p.Asn119=)	rs372511774	0.00007
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)	rs142920240	0.00007
NM_000492.4(CFTR):c.202A>G (p.Lys68Glu)	rs397508332	0.00007
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)	rs151048781	0.00007
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)	rs141482808	0.00007
NM_000512.5(GALNS):c.921G>T (p.Leu307=)	rs201986622	0.00007
NM_000528.4(MAN2B1):c.2437-5C>G	rs200695002	0.00007
NM_000546.6(TP53):c.618G>A (p.Leu206=)	rs142813240	0.00007
NM_000546.6(TP53):c.903A>G (p.Pro301=)	rs72661120	0.00007
NM_000548.5(TSC2):c.*7G>A	rs765016970	0.00007
NM_000548.5(TSC2):c.1040A>G (p.Lys347Arg)	rs367963898	0.00007
NM_000548.5(TSC2):c.1656A>G (p.Ala552=)	rs373515515	0.00007
NM_000548.5(TSC2):c.2978C>T (p.Thr993Met)	rs137854410	0.00007
NM_000548.5(TSC2):c.3287C>T (p.Ser1096Phe)	rs140772300	0.00007
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu)	rs137854065	0.00007
NM_000548.5(TSC2):c.4887C>T (p.Asp1629=)	rs137854152	0.00007
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His)	rs45517392	0.00007
NM_000548.5(TSC2):c.5259+9T>C	rs1057522018	0.00007
NM_000548.5(TSC2):c.630G>A (p.Ala210=)	rs567756494	0.00007
NM_000548.5(TSC2):c.710C>T (p.Pro237Leu)	rs139060277	0.00007
NM_000642.3(AGL):c.2607A>G (p.Gln869=)	rs747817359	0.00007
NM_000642.3(AGL):c.3668G>A (p.Gly1223Asp)	rs202046937	0.00007
NM_000642.3(AGL):c.609A>G (p.Lys203=)	rs186709388	0.00007
NM_000702.4(ATP1A2):c.2142C>T (p.Asp714=)	rs139022921	0.00007
NM_001099922.3(ALG13):c.288C>T (p.Leu96=)	rs369867857	0.00007
NM_001099922.3(ALG13):c.975T>G (p.Thr325=)	rs767735916	0.00007
NM_001126108.2(SLC12A3):c.2857-7C>T	rs745327566	0.00007
NM_001164508.2(NEB):c.2475C>T (p.Asp825=)	rs180881237	0.00007
NM_001365088.1(SLC12A6):c.21C>T (p.Thr7=)	rs146902000	0.00007
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln)	rs200699819	0.00007
NM_004172.5(SLC1A3):c.1496G>A (p.Arg499Gln)	rs138085358	0.00007
NM_004525.3(LRP2):c.11244C>T (p.Asn3748=)	rs542010522	0.00007
NM_004525.3(LRP2):c.1425C>T (p.Asp475=)	rs186484839	0.00007
NM_006493.4(CLN5):c.642A>T (p.Val214=)	rs751496223	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_014363.6(SACS):c.1912T>G (p.Cys638Gly)	rs200333323	0.00007
NM_014363.6(SACS):c.2487C>T (p.Asp829=)	rs151198216	0.00007
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys)	rs375805688	0.00007
NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser)	rs150421712	0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)	rs121918243	0.00007
NM_017617.5(NOTCH1):c.2388G>A (p.Ala796=)	rs561956078	0.00007
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met)	rs756972680	0.00007
NM_017617.5(NOTCH1):c.4307C>T (p.Ala1436Val)	rs371303106	0.00007
NM_017617.5(NOTCH1):c.4795G>A (p.Val1599Met)	rs543770603	0.00007
NM_017617.5(NOTCH1):c.4809C>T (p.Asn1603=)	rs370523171	0.00007
NM_017617.5(NOTCH1):c.6283C>T (p.Arg2095Cys)	rs780873661	0.00007
NM_017617.5(NOTCH1):c.6583G>A (p.Gly2195Ser)	rs376422513	0.00007
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met)	rs369167555	0.00007
NM_017617.5(NOTCH1):c.975C>T (p.Asn325=)	rs746111102	0.00007
NM_018122.5(DARS2):c.796C>T (p.Arg266Ter)	rs149035108	0.00007
NM_019032.6(ADAMTSL4):c.2594G>A (p.Arg865His)	rs781691587	0.00007
NM_022455.5(NSD1):c.3089T>C (p.Leu1030Ser)	rs200856103	0.00007
NM_025137.4(SPG11):c.316G>A (p.Ala106Thr)	rs201842512	0.00007
NM_025137.4(SPG11):c.31G>C (p.Ala11Pro)	rs529316227	0.00007
NM_025137.4(SPG11):c.6410G>A (p.Arg2137Gln)	rs200283964	0.00007
NM_025137.4(SPG11):c.6944A>C (p.Asn2315Thr)	rs200276333	0.00007
NM_032520.5(GNPTG):c.394C>T (p.Arg132Trp)	rs200741370	0.00007
NM_032520.5(GNPTG):c.489C>T (p.Phe163=)	rs370857842	0.00007
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)	rs121908646	0.00007
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro)	rs137852850	0.00007
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)	rs111033264	0.00007
NM_206933.4(USH2A):c.7227T>C (p.Thr2409=)	rs141917231	0.00007
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter)	rs767774362	0.00006
NM_000017.4(ACADS):c.417G>C (p.Trp139Cys)	rs149107232	0.00006
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys)	rs539219309	0.00006
NM_000017.4(ACADS):c.973C>T (p.Arg325Trp)	rs121908006	0.00006
NM_000020.3(ACVRL1):c.759C>T (p.His253=)	rs374020751	0.00006
NM_000022.4(ADA):c.375C>G (p.Thr125=)	rs766539394	0.00006
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met)	rs782157913	0.00006
NM_000049.4(ASPA):c.746A>T (p.Asp249Val)	rs104894552	0.00006
NM_000053.4(ATP7B):c.2190C>T (p.Asp730=)	rs550565277	0.00006
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met)	rs200290721	0.00006
NM_000053.4(ATP7B):c.3160A>C (p.Arg1054=)	rs377586515	0.00006
NM_000053.4(ATP7B):c.325C>T (p.Leu109=)	rs751920801	0.00006
NM_000053.4(ATP7B):c.352G>A (p.Asp118Asn)	rs769655497	0.00006
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met)	rs776280797	0.00006
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=)	rs546721020	0.00006
NM_000053.4(ATP7B):c.496C>T (p.Arg166Trp)	rs755476114	0.00006
NM_000053.4(ATP7B):c.664A>G (p.Ile222Val)	rs200866801	0.00006
NM_000069.3(CACNA1S):c.1915A>G (p.Ile639Val)	rs185777948	0.00006
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys)	rs80338782	0.00006
NM_000069.3(CACNA1S):c.4669-11G>A	rs376672151	0.00006
NM_000093.5(COL5A1):c.3906+14C>T	rs377136680	0.00006
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)	rs121918528	0.00006
NM_000110.4(DPYD):c.2579del (p.Gln860fs)	rs746991079	0.00006
NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr)	rs374984587	0.00006
NM_000152.5(GAA):c.1124G>A (p.Arg375His)	rs142752477	0.00006
NM_000152.5(GAA):c.1356C>T (p.Ala452=)	rs757893858	0.00006
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln)	rs377126280	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.2800-11C>G	rs374571499	0.00006
NM_000152.5(GAA):c.318C>T (p.Arg106=)	rs762542246	0.00006
NM_000152.5(GAA):c.510C>T (p.Asp170=)	rs564758226	0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr)	rs121907936	0.00006
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys)	rs202158511	0.00006
NM_000158.4(GBE1):c.785G>A (p.Arg262His)	rs369574719	0.00006
NM_000199.5(SGSH):c.1302G>A (p.Ala434=)	rs376787615	0.00006
NM_000199.5(SGSH):c.432C>T (p.Ser144=)	rs200194908	0.00006
NM_000243.3(MEFV):c.2337G>C (p.Gly779=)	rs104895153	0.00006
NM_000268.4(NF2):c.1392G>A (p.Ala464=)	rs375819833	0.00006
NM_000275.3(OCA2):c.2043C>G (p.Thr681=)	rs368126732	0.00006
NM_000317.3(PTS):c.132C>T (p.Asn44=)	rs763556416	0.00006
NM_000318.3(PEX2):c.892G>A (p.Glu298Lys)	rs544763390	0.00006
NM_000368.5(TSC1):c.1178C>T (p.Thr393Ile)	rs201452238	0.00006
NM_000368.5(TSC1):c.1209G>A (p.Ser403=)	rs141184479	0.00006
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu)	rs118203553	0.00006
NM_000368.5(TSC1):c.1808C>T (p.Pro603Leu)	rs751247705	0.00006
NM_000368.5(TSC1):c.625A>G (p.Met209Val)	rs754980229	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_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg)	rs111033316	0.00006
NM_000455.5(STK11):c.1069G>A (p.Glu357Lys)	rs759473833	0.00006
NM_000455.5(STK11):c.1257C>T (p.Ser419=)	rs375328708	0.00006
NM_000455.5(STK11):c.125G>T (p.Arg42Leu)	rs148830698	0.00006
NM_000455.5(STK11):c.734+17C>G	rs751929304	0.00006
NM_000455.5(STK11):c.842C>T (p.Pro281Leu)	rs121913322	0.00006
NM_000455.5(STK11):c.921-10G>A	rs183406870	0.00006
NM_000455.5(STK11):c.992G>A (p.Arg331Gln)	rs371264852	0.00006
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)	rs1800089	0.00006
NM_000492.4(CFTR):c.1679+18G>A	rs369294289	0.00006
NM_000492.4(CFTR):c.169T>C (p.Trp57Arg)	rs397508272	0.00006
NM_000492.4(CFTR):c.3517G>A (p.Gly1173Ser)	rs368393738	0.00006
NM_000512.5(GALNS):c.1071G>A (p.Pro357=)	rs374619390	0.00006
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)	rs118204437	0.00006
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)	rs148181903	0.00006
NM_000528.4(MAN2B1):c.2007G>A (p.Pro669=)	rs762152042	0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)	rs80338681	0.00006
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val)	rs45486591	0.00006
NM_000548.5(TSC2):c.1341G>A (p.Ala447=)	rs141609319	0.00006
NM_000548.5(TSC2):c.363C>T (p.Ala121=)	rs45517106	0.00006
NM_000548.5(TSC2):c.4351C>G (p.Arg1451Gly)	rs369553241	0.00006
NM_000548.5(TSC2):c.5384G>A (p.Arg1795His)	rs137854288	0.00006
NM_000548.5(TSC2):c.618C>T (p.Cys206=)	rs45498496	0.00006
NM_000642.3(AGL):c.293+3A>G	rs375459662	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_001042492.3(NF1):c.3217A>G (p.Met1073Val)	rs199474740	0.00006
NM_001042492.3(NF1):c.6033A>G (p.Leu2011=)	rs147995863	0.00006
NM_001042492.3(NF1):c.7006G>A (p.Ala2336Thr)	rs587781428	0.00006
NM_001099922.3(ALG13):c.42C>A (p.Asp14Glu)	rs200293248	0.00006
NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=)	rs13306666	0.00006
NM_001126108.2(SLC12A3):c.2863C>T (p.Arg955Trp)	rs559626481	0.00006
NM_001148.6(ANK2):c.1135C>T (p.Arg379Cys)	rs143043717	0.00006
NM_001148.6(ANK2):c.7932G>A (p.Glu2644=)	rs201645638	0.00006
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=)	rs202102237	0.00006
NM_001365999.1(SZT2):c.4370T>A (p.Phe1457Tyr)	rs147201727	0.00006
NM_001374828.1(ARID1B):c.1379G>T (p.Gly460Val)	rs1274183370	0.00006
NM_001374828.1(ARID1B):c.4674G>A (p.Pro1558=)	rs566865279	0.00006
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=)	rs199603690	0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)	rs200287925	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_004525.3(LRP2):c.630C>T (p.Asp210=)	rs368336310	0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)	rs121907987	0.00006
NM_006912.6(RIT1):c.106+15C>T	rs755316223	0.00006
NM_006939.4(SOS2):c.2605G>A (p.Val869Ile)	rs373143128	0.00006
NM_006939.4(SOS2):c.2700C>T (p.Asp900=)	rs369410641	0.00006
NM_006939.4(SOS2):c.2959-16A>G	rs147830734	0.00006
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln)	rs780580623	0.00006
NM_006939.4(SOS2):c.720C>T (p.Ile240=)	rs373852615	0.00006
NM_012434.5(SLC17A5):c.533del (p.Thr178fs)	rs727504156	0.00006
NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=)	rs139949668	0.00006
NM_014363.6(SACS):c.12216T>A (p.Thr4072=)	rs574182225	0.00006
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala)	rs556248979	0.00006
NM_014363.6(SACS):c.9903G>T (p.Leu3301=)	rs563145604	0.00006
NM_014795.4(ZEB2):c.1221C>T (p.His407=)	rs144613207	0.00006
NM_014795.4(ZEB2):c.2275A>G (p.Arg759Gly)	rs748354087	0.00006
NM_015627.3(LDLRAP1):c.748-4C>A	rs370633185	0.00006
NM_015627.3(LDLRAP1):c.861C>T (p.Leu287=)	rs767867837	0.00006
NM_017617.5(NOTCH1):c.2640C>T (p.His880=)	rs374946182	0.00006
NM_017617.5(NOTCH1):c.3001G>A (p.Gly1001Ser)	rs763621169	0.00006
NM_017617.5(NOTCH1):c.3270C>T (p.Thr1090=)	rs773990513	0.00006
NM_017617.5(NOTCH1):c.3271G>A (p.Gly1091Ser)	rs768095251	0.00006
NM_017617.5(NOTCH1):c.3338C>T (p.Ala1113Val)	rs377351349	0.00006
NM_017617.5(NOTCH1):c.3374C>T (p.Ala1125Val)	rs200871631	0.00006
NM_017617.5(NOTCH1):c.3788G>A (p.Arg1263His)	rs377594681	0.00006
NM_017617.5(NOTCH1):c.4718C>T (p.Thr1573Met)	rs573864607	0.00006
NM_017617.5(NOTCH1):c.5718G>A (p.Ala1906=)	rs369730620	0.00006
NM_017617.5(NOTCH1):c.5776C>T (p.Arg1926Cys)	rs199652954	0.00006
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala)	rs536167222	0.00006
NM_018122.5(DARS2):c.396+2T>G	rs759123043	0.00006
NM_020533.3(MCOLN1):c.1038G>A (p.Glu346=)	rs535704197	0.00006
NM_020822.3(KCNT1):c.3575C>T (p.Pro1192Leu)	rs147654995	0.00006
NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp)	rs202138550	0.00006
NM_025137.4(SPG11):c.1187A>G (p.Tyr396Cys)	rs3759875	0.00006
NM_025137.4(SPG11):c.5270A>G (p.His1757Arg)	rs139423939	0.00006
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met)	rs149003934	0.00006
NM_025137.4(SPG11):c.7249G>A (p.Glu2417Lys)	rs371313584	0.00006
NM_031935.3(HMCN1):c.14076C>T (p.Cys4692=)	rs144621380	0.00006
NM_144988.4(ALG14):c.422T>G (p.Val141Gly)	rs139005007	0.00006
NM_152296.5(ATP1A3):c.2886C>T (p.Pro962=)	rs141412861	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.10999A>C (p.Thr3667Pro)	rs150822759	0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)	rs527236139	0.00006
NM_206933.4(USH2A):c.12597T>C (p.Ala4199=)	rs202172029	0.00006
NM_206933.4(USH2A):c.7595-2144A>G	rs786200928	0.00006
NM_000017.4(ACADS):c.1095G>T (p.Gln365His)	rs368469075	0.00005
NM_000017.4(ACADS):c.575C>T (p.Ala192Val)	rs28940874	0.00005
NM_000022.4(ADA):c.872C>T (p.Ser291Leu)	rs121908721	0.00005
NM_000023.4(SGCA):c.657C>T (p.His219=)	rs747684069	0.00005
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val)	rs367799134	0.00005
NM_000049.4(ASPA):c.230A>G (p.Asn77Ser)	rs574328488	0.00005
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser)	rs137853285	0.00005
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=)	rs398123136	0.00005
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln)	rs121907996	0.00005
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)	rs121907992	0.00005
NM_000069.3(CACNA1S):c.1936G>A (p.Val646Ile)	rs139860737	0.00005
NM_000069.3(CACNA1S):c.2439C>T (p.Ser813=)	rs376863448	0.00005
NM_000069.3(CACNA1S):c.4572C>T (p.Tyr1524=)	rs765581827	0.00005
NM_000093.5(COL5A1):c.2593-15T>C	rs747677530	0.00005
NM_000093.5(COL5A1):c.4803C>T (p.Tyr1601=)	rs199637893	0.00005
NM_000110.4(DPYD):c.2275C>T (p.Arg759Ter)	rs759372918	0.00005
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr)	rs144731405	0.00005
NM_000152.5(GAA):c.2418G>A (p.Thr806=)	rs371528938	0.00005
NM_000152.5(GAA):c.2671C>T (p.Arg891Cys)	rs377249041	0.00005
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys)	rs368650877	0.00005
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn)	rs753472891	0.00005
NM_000243.3(MEFV):c.1061G>A (p.Arg354Gln)	rs763015849	0.00005
NM_000243.3(MEFV):c.1179C>T (p.Pro393=)	rs104895082	0.00005
NM_000243.3(MEFV):c.1610+8G>A	rs765410591	0.00005
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro)	rs756975501	0.00005
NM_000268.4(NF2):c.947T>G (p.Leu316Trp)	rs750633919	0.00005
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu)	rs121965044	0.00005
NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu)	rs147736385	0.00005
NM_000368.5(TSC1):c.1047A>G (p.Pro349=)	rs118203492	0.00005
NM_000368.5(TSC1):c.1916G>T (p.Gly639Val)	rs372583166	0.00005
NM_000368.5(TSC1):c.231C>T (p.Asn77=)	rs397514809	0.00005
NM_000368.5(TSC1):c.2654G>A (p.Arg885Gln)	rs200514807	0.00005
NM_000368.5(TSC1):c.3045C>T (p.Asn1015=)	rs759047948	0.00005
NM_000368.5(TSC1):c.3123C>G (p.Ser1041Arg)	rs753374839	0.00005
NM_000368.5(TSC1):c.402G>A (p.Leu134=)	rs147125501	0.00005
NM_000368.5(TSC1):c.73G>A (p.Val25Met)	rs1230244328	0.00005
NM_000368.5(TSC1):c.853T>G (p.Phe285Val)	rs377076733	0.00005
NM_000368.5(TSC1):c.857C>G (p.Pro286Arg)	rs375144225	0.00005
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro)	rs62645908	0.00005
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	rs111033256	0.00005
NM_000455.5(STK11):c.1027G>A (p.Asp343Asn)	rs368547224	0.00005
NM_000455.5(STK11):c.1254C>G (p.Cys418Trp)	rs587780715	0.00005
NM_000455.5(STK11):c.237C>T (p.Ile79=)	rs751859508	0.00005
NM_000455.5(STK11):c.366G>A (p.Lys122=)	rs376969448	0.00005
NM_000455.5(STK11):c.374+11C>T	rs368923696	0.00005
NM_000455.5(STK11):c.375-7G>A	rs587781176	0.00005
NM_000455.5(STK11):c.465-5C>T	rs567202367	0.00005
NM_000455.5(STK11):c.666C>T (p.Pro222=)	rs542189325	0.00005
NM_000455.5(STK11):c.920+6C>T	rs730881964	0.00005
NM_000455.5(STK11):c.970C>G (p.Pro324Ala)	rs549474196	0.00005
NM_000466.3(PEX1):c.147G>A (p.Val49=)	rs202230667	0.00005
NM_000466.3(PEX1):c.2584-10T>C	rs375129444	0.00005
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val)	rs201295415	0.00005
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val)	rs397508553	0.00005
NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter)	rs372893383	0.00005
NM_000512.5(GALNS):c.665G>A (p.Arg222Gln)	rs140162658	0.00005
NM_000528.4(MAN2B1):c.2046+2T>A	rs748712495	0.00005
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg)	rs754733253	0.00005
NM_000531.6(OTC):c.118C>T (p.Arg40Cys)	rs72554307	0.00005
NM_000546.6(TP53):c.672+15T>C	rs140756213	0.00005
NM_000548.5(TSC2):c.1293G>A (p.Ala431=)	rs45517162	0.00005
NM_000548.5(TSC2):c.1820C>T (p.Ala607Val)	rs397515296	0.00005
NM_000548.5(TSC2):c.2220+4C>G	rs781186613	0.00005
NM_000548.5(TSC2):c.2392C>T (p.His798Tyr)	rs375809212	0.00005
NM_000548.5(TSC2):c.2546-6C>T	rs372088609	0.00005
NM_000548.5(TSC2):c.2584G>A (p.Ala862Thr)	rs759837836	0.00005
NM_000548.5(TSC2):c.2750G>A (p.Arg917Gln)	rs397515046	0.00005
NM_000548.5(TSC2):c.282G>A (p.Pro94=)	rs145624233	0.00005
NM_000548.5(TSC2):c.336+14C>T	rs570065416	0.00005
NM_000548.5(TSC2):c.3567G>A (p.Leu1189=)	rs146734084	0.00005
NM_000548.5(TSC2):c.3968C>T (p.Ala1323Val)	rs397515062	0.00005
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp)	rs45517333	0.00005
NM_000548.5(TSC2):c.4469A>G (p.Glu1490Gly)	rs759882146	0.00005
NM_000548.5(TSC2):c.4849+13G>A	rs780953278	0.00005
NM_000548.5(TSC2):c.4863C>T (p.Ile1621=)	rs142085017	0.00005
NM_000548.5(TSC2):c.5186G>A (p.Arg1729His)	rs760395277	0.00005
NM_000548.5(TSC2):c.781C>T (p.Arg261Trp)	rs45517130	0.00005
NM_000642.3(AGL):c.1065G>A (p.Thr355=)	rs764914308	0.00005
NM_000642.3(AGL):c.261A>G (p.Gln87=)	rs370304606	0.00005
NM_000702.4(ATP1A2):c.969C>T (p.Ile323=)	rs28716941	0.00005
NM_001033855.3(DCLRE1C):c.456C>T (p.Ser152=)	rs140176235	0.00005
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser)	rs370789267	0.00005
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser)	rs138227618	0.00005
NM_001042492.3(NF1):c.8238T>G (p.Ile2746Met)	rs779789452	0.00005
NM_001105206.3(LAMA4):c.2214C>T (p.Thr738=)	rs782058486	0.00005
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg)	rs752101663	0.00005
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg)	rs34803727	0.00005
NM_001126108.2(SLC12A3):c.434G>A (p.Arg145His)	rs374324018	0.00005
NM_001126108.2(SLC12A3):c.482G>A (p.Trp161Ter)	rs201190064	0.00005
NM_001130438.3(SPTAN1):c.1806+4A>G	rs770046688	0.00005
NM_001148.6(ANK2):c.9936C>T (p.Ser3312=)	rs758162927	0.00005
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=)	rs201948406	0.00005
NM_001253852.3(AP4B1):c.1558C>T (p.Arg520Cys)	rs200276550	0.00005
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)	rs104886033	0.00005
NM_001365088.1(SLC12A6):c.1008C>T (p.Gly336=)	rs770742608	0.00005
NM_001365088.1(SLC12A6):c.964G>A (p.Gly322Ser)	rs75235010	0.00005
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)	rs369102875	0.00005
NM_002016.2(FLG):c.7487del (p.Thr2496fs)	rs774362740	0.00005
NM_002485.5(NBN):c.1398-10T>A	rs539960851	0.00005
NM_002485.5(NBN):c.1454C>T (p.Thr485Met)	rs200891292	0.00005
NM_002485.5(NBN):c.254A>G (p.Asn85Ser)	rs587780095	0.00005
NM_002529.4(NTRK1):c.575-19G>A	rs370828525	0.00005
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys)	rs377216516	0.00005
NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter)	rs121908886	0.00005
NM_003072.5(SMARCA4):c.3791C>T (p.Thr1264Met)	rs377119410	0.00005
NM_004525.3(LRP2):c.3495G>A (p.Ser1165=)	rs186494101	0.00005
NM_004525.3(LRP2):c.770-12T>C	rs138572086	0.00005
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter)	rs386833993	0.00005
NM_014363.6(SACS):c.3915T>C (p.His1305=)	rs767598017	0.00005
NM_014363.6(SACS):c.447G>A (p.Ala149=)	rs145681117	0.00005
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile)	rs201724656	0.00005
NM_014363.6(SACS):c.7614A>C (p.Ala2538=)	rs142697365	0.00005
NM_014363.6(SACS):c.861C>T (p.Tyr287=)	rs200877272	0.00005
NM_014363.6(SACS):c.8958C>T (p.His2986=)	rs758029668	0.00005
NM_014795.4(ZEB2):c.1876G>A (p.Gly626Arg)	rs727504224	0.00005
NM_014795.4(ZEB2):c.219C>T (p.His73=)	rs778851716	0.00005
NM_014795.4(ZEB2):c.2855G>C (p.Arg952Thr)	rs151256895	0.00005
NM_017617.5(NOTCH1):c.1510C>T (p.Arg504Cys)	rs752071569	0.00005
NM_017617.5(NOTCH1):c.1664C>T (p.Thr555Met)	rs746796894	0.00005
NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=)	rs199719103	0.00005
NM_017617.5(NOTCH1):c.2521G>A (p.Gly841Ser)	rs369259434	0.00005
NM_017617.5(NOTCH1):c.2908A>G (p.Thr970Ala)	rs201053795	0.00005
NM_017617.5(NOTCH1):c.4077C>T (p.Asn1359=)	rs775108554	0.00005
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His)	rs371068504	0.00005
NM_017617.5(NOTCH1):c.448G>A (p.Ala150Thr)	rs372660483	0.00005
NM_017617.5(NOTCH1):c.4492A>G (p.Lys1498Glu)	rs745681787	0.00005
NM_017617.5(NOTCH1):c.5248G>A (p.Val1750Met)	rs368396893	0.00005
NM_017617.5(NOTCH1):c.5416A>G (p.Met1806Val)	rs114479009	0.00005
NM_017617.5(NOTCH1):c.7016C>A (p.Ala2339Asp)	rs773134608	0.00005
NM_017617.5(NOTCH1):c.7130C>T (p.Pro2377Leu)	rs761839390	0.00005
NM_019032.6(ADAMTSL4):c.2236C>T (p.Arg746Cys)	rs751676813	0.00005
NM_020822.3(KCNT1):c.3437G>A (p.Arg1146His)	rs368339692	0.00005
NM_022455.5(NSD1):c.3803G>A (p.Arg1268Gln)	rs368706736	0.00005
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter)	rs140385286	0.00005
NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys)	rs201082396	0.00005
NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln)	rs752401008	0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs)	rs312262720	0.00005
NM_032861.4(SERAC1):c.999T>C (p.Ser333=)	rs746668292	0.00005
NM_133433.4(NIPBL):c.2931A>G (p.Glu977=)	rs587783913	0.00005
NM_152296.5(ATP1A3):c.994-4C>G	rs373698149	0.00005
NM_153700.2(STRC):c.3275G>A (p.Cys1092Tyr)	rs727503447	0.00005
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe)	rs764256655	0.00005
NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter)	rs184351619	0.00005
NM_206933.4(USH2A):c.1731C>T (p.Cys577=)	rs41313732	0.00005
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His)	rs533700989	0.00005
NM_000017.4(ACADS):c.1104C>T (p.Gly368=)	rs200165866	0.00004
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp)	rs28940875	0.00004
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys)	rs537072819	0.00004
NM_000017.4(ACADS):c.663G>T (p.Gly221=)	rs751023929	0.00004
NM_000017.4(ACADS):c.815G>A (p.Arg272His)	rs374726386	0.00004
NM_000022.4(ADA):c.642C>T (p.His214=)	rs562055008	0.00004
NM_000053.4(ATP7B):c.1122C>G (p.Val374=)	rs201254466	0.00004
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=)	rs778775834	0.00004
NM_000053.4(ATP7B):c.1172C>T (p.Ser391Leu)	rs750724856	0.00004
NM_000053.4(ATP7B):c.1630C>T (p.Gln544Ter)	rs766906034	0.00004
NM_000053.4(ATP7B):c.2763T>C (p.Ser921=)	rs1052485948	0.00004
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=)	rs200597654	0.00004
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser)	rs587783318	0.00004
NM_000069.3(CACNA1S):c.2667C>T (p.Ala889=)	rs188071541	0.00004
NM_000069.3(CACNA1S):c.2839G>A (p.Val947Ile)	rs76460090	0.00004
NM_000069.3(CACNA1S):c.541+9C>T	rs375541532	0.00004
NM_000069.3(CACNA1S):c.784C>T (p.Arg262Trp)	rs186538122	0.00004
NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile)	rs138205421	0.00004
NM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter)	rs148317787	0.00004
NM_000093.5(COL5A1):c.2268C>T (p.Pro756=)	rs367755808	0.00004
NM_000093.5(COL5A1):c.2310T>A (p.Pro770=)	rs377123592	0.00004
NM_000098.3(CPT2):c.1646G>A (p.Gly549Asp)	rs186044004	0.00004
NM_000098.3(CPT2):c.98del (p.Gln33fs)	rs917744011	0.00004
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu)	rs568132506	0.00004
NM_000152.5(GAA):c.1245G>A (p.Thr415=)	rs760920034	0.00004
NM_000152.5(GAA):c.1629C>T (p.Tyr543=)	rs372193105	0.00004
NM_000152.5(GAA):c.861C>T (p.Pro287=)	rs778580823	0.00004
NM_000169.3(GLA):c.1261A>G (p.Met421Val)	rs144060196	0.00004
NM_000169.3(GLA):c.196G>C (p.Glu66Gln)	rs104894833	0.00004
NM_000169.3(GLA):c.644A>G (p.Asn215Ser)	rs28935197	0.00004
NM_000186.4(CFH):c.807T>C (p.Asn269=)	rs757654697	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.1134C>T (p.Ser378=)	rs771257931	0.00004
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp)	rs777267343	0.00004
NM_000202.8(IDS):c.301C>T (p.Arg101Cys)	rs782738754	0.00004
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val)	rs144270019	0.00004
NM_000243.3(MEFV):c.1957C>T (p.Arg653Cys)	rs375716505	0.00004
NM_000243.3(MEFV):c.2109C>T (p.Ser703=)	rs104895118	0.00004
NM_000243.3(MEFV):c.775A>G (p.Ile259Val)	rs104895144	0.00004
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His)	rs371029653	0.00004
NM_000268.4(NF2):c.1252C>T (p.Arg418Cys)	rs765540111	0.00004
NM_000268.4(NF2):c.1619A>G (p.Asn540Ser)	rs774824164	0.00004
NM_000268.4(NF2):c.662A>G (p.Tyr221Cys)	rs746025177	0.00004
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val)	rs200457227	0.00004
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp)	rs549319429	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_000368.5(TSC1):c.110G>A (p.Arg37His)	rs750441497	0.00004
NM_000368.5(TSC1):c.1264-9T>C	rs1399728684	0.00004
NM_000368.5(TSC1):c.1332A>G (p.Ser444=)	rs773003016	0.00004
NM_000368.5(TSC1):c.1884A>G (p.Leu628=)	rs1038140620	0.00004
NM_000368.5(TSC1):c.1976C>T (p.Ala659Val)	rs118203609	0.00004
NM_000368.5(TSC1):c.2115G>A (p.Glu705=)	rs142662480	0.00004
NM_000368.5(TSC1):c.2922C>T (p.Leu974=)	rs769389702	0.00004
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys)	rs1031268531	0.00004
NM_000410.4(HFE):c.1006+1G>A	rs573745685	0.00004
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser)	rs766206507	0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)	rs121908362	0.00004
NM_000441.2(SLC26A4):c.279del (p.Ser93fs)	rs786204421	0.00004
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu)	rs397516431	0.00004
NM_000455.5(STK11):c.1109-3C>T	rs864622219	0.00004
NM_000455.5(STK11):c.1286C>G (p.Ala429Gly)	rs757369900	0.00004
NM_000455.5(STK11):c.298C>G (p.Gln100Glu)	rs757841535	0.00004
NM_000455.5(STK11):c.42G>A (p.Glu14=)	rs758769888	0.00004
NM_000455.5(STK11):c.432G>A (p.Pro144=)	rs376788924	0.00004
NM_000455.5(STK11):c.464+10C>T	rs587782445	0.00004
NM_000455.5(STK11):c.612C>T (p.Phe204=)	rs774100153	0.00004
NM_000455.5(STK11):c.631C>T (p.Arg211Trp)	rs185087320	0.00004
NM_000455.5(STK11):c.723T>C (p.Ala241=)	rs533550278	0.00004
NM_000455.5(STK11):c.795G>A (p.Glu265=)	rs730881963	0.00004
NM_000481.4(AMT):c.280C>T (p.Arg94Trp)	rs1126422	0.00004
NM_000492.4(CFTR):c.2490+14G>T	rs573016418	0.00004
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr)	rs201958172	0.00004
NM_000492.4(CFTR):c.794T>G (p.Met265Arg)	rs148519623	0.00004
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly)	rs397508818	0.00004
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp)	rs145798311	0.00004
NM_000528.4(MAN2B1):c.1845G>A (p.Thr615=)	rs369071579	0.00004
NM_000528.4(MAN2B1):c.2047-5C>T	rs200424566	0.00004
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln)	rs373240866	0.00004
NM_000528.4(MAN2B1):c.282C>T (p.His94=)	rs766810849	0.00004
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu)	rs1057517195	0.00004
NM_000546.6(TP53):c.102C>G (p.Pro34=)	rs11575998	0.00004
NM_000546.6(TP53):c.1149C>T (p.Leu383=)	rs373710656	0.00004
NM_000546.6(TP53):c.141G>A (p.Pro47=)	rs201741778	0.00004
NM_000546.6(TP53):c.255T>C (p.Pro85=)	rs775515332	0.00004
NM_000546.6(TP53):c.450A>G (p.Thr150=)	rs754020850	0.00004
NM_000546.6(TP53):c.504C>T (p.His168=)	rs746293837	0.00004
NM_000546.6(TP53):c.612G>A (p.Glu204=)	rs749629973	0.00004
NM_000546.6(TP53):c.677G>T (p.Gly226Val)	rs970212462	0.00004
NM_000548.5(TSC2):c.1066G>C (p.Val356Leu)	rs587778728	0.00004
NM_000548.5(TSC2):c.1303C>T (p.His435Tyr)	rs760896048	0.00004
NM_000548.5(TSC2):c.1730C>T (p.Thr577Ile)	rs770895919	0.00004
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val)	rs371074761	0.00004
NM_000548.5(TSC2):c.1865G>A (p.Arg622Gln)	rs45517206	0.00004
NM_000548.5(TSC2):c.1981G>A (p.Gly661Ser)	rs137854168	0.00004
NM_000548.5(TSC2):c.2009C>T (p.Pro670Leu)	rs397515288	0.00004
NM_000548.5(TSC2):c.2163G>A (p.Val721=)	rs552644975	0.00004
NM_000548.5(TSC2):c.2742+6C>T	rs377568673	0.00004
NM_000548.5(TSC2):c.2859C>T (p.Pro953=)	rs397514968	0.00004
NM_000548.5(TSC2):c.2887G>A (p.Val963Met)	rs45517275	0.00004
NM_000548.5(TSC2):c.2926C>T (p.Arg976Trp)	rs769527912	0.00004
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp)	rs372321790	0.00004
NM_000548.5(TSC2):c.2963G>C (p.Arg988Pro)	rs397515306	0.00004
NM_000548.5(TSC2):c.3225C>T (p.Thr1075=)	rs374145104	0.00004
NM_000548.5(TSC2):c.3275C>T (p.Pro1092Leu)	rs587781774	0.00004
NM_000548.5(TSC2):c.3365G>A (p.Arg1122His)	rs369536711	0.00004
NM_000548.5(TSC2):c.3871G>A (p.Val1291Ile)	rs201135184	0.00004
NM_000548.5(TSC2):c.4023C>A (p.Ser1341Arg)	rs45462593	0.00004
NM_000548.5(TSC2):c.4299G>A (p.Ser1433=)	rs749358180	0.00004
NM_000548.5(TSC2):c.4852G>A (p.Val1618Ile)	rs377129517	0.00004
NM_000548.5(TSC2):c.5010C>T (p.His1670=)	rs376306544	0.00004
NM_000548.5(TSC2):c.5161-4C>G	rs45517406	0.00004
NM_000548.5(TSC2):c.5210C>T (p.Pro1737Leu)	rs749326176	0.00004
NM_000548.5(TSC2):c.5307C>T (p.His1769=)	rs562220073	0.00004
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser)	rs761181064	0.00004
NM_000548.5(TSC2):c.5331T>C (p.Pro1777=)	rs370820622	0.00004
NM_000548.5(TSC2):c.5339C>T (p.Thr1780Ile)	rs778395191	0.00004
NM_000548.5(TSC2):c.989C>T (p.Pro330Leu)	rs140910086	0.00004
NM_000642.3(AGL):c.1552A>G (p.Thr518Ala)	rs754606378	0.00004
NM_000642.3(AGL):c.1829G>A (p.Arg610Lys)	rs781127120	0.00004
NM_000642.3(AGL):c.1933A>G (p.Thr645Ala)	rs576969969	0.00004
NM_001042432.2(CLN3):c.516C>T (p.Leu172=)	rs148846795	0.00004
NM_001042492.3(NF1):c.231A>T (p.Lys77Asn)	rs373563053	0.00004
NM_001042492.3(NF1):c.3358G>C (p.Val1120Leu)	rs200594167	0.00004
NM_001042492.3(NF1):c.4445T>C (p.Ile1482Thr)	rs746994734	0.00004
NM_001042492.3(NF1):c.5255A>G (p.Lys1752Arg)	rs864622373	0.00004
NM_001042492.3(NF1):c.5812+8A>G	rs372075322	0.00004
NM_001042492.3(NF1):c.7046G>A (p.Arg2349His)	rs864622065	0.00004
NM_001042492.3(NF1):c.7528A>G (p.Thr2510Ala)	rs145794301	0.00004
NM_001042492.3(NF1):c.8490C>A (p.Phe2830Leu)	rs760550772	0.00004
NM_001099922.3(ALG13):c.2013G>A (p.Pro671=)	rs775697727	0.00004
NM_001182.5(ALDH7A1):c.1068G>A (p.Gln356=)	rs376004978	0.00004
NM_001182.5(ALDH7A1):c.1405C>T (p.Arg469Cys)	rs752523070	0.00004
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)	rs147538370	0.00004
NM_001267550.2(TTN):c.24227-15C>T	rs397517505	0.00004
NM_001282531.3(ADNP):c.393G>A (p.Pro131=)	rs201360495	0.00004
NM_001918.5(DBT):c.291C>T (p.Ser97=)	rs201318480	0.00004
NM_002016.2(FLG):c.10969C>T (p.Arg3657Ter)	rs749083759	0.00004
NM_002016.2(FLG):c.2218C>T (p.Arg740Ter)	rs777181377	0.00004
NM_002485.5(NBN):c.-10A>T	rs759094270	0.00004
NM_002778.4(PSAP):c.1281C>T (p.Ser427=)	rs529776324	0.00004
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His)	rs185551386	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_004006.3(DMD):c.8226A>G (p.Gln2742=)	rs746514008	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_006939.4(SOS2):c.1976T>C (p.Leu659Ser)	rs1391029692	0.00004
NM_006939.4(SOS2):c.257C>T (p.Ala86Val)	rs146272145	0.00004
NM_006939.4(SOS2):c.3520G>A (p.Ala1174Thr)	rs935249167	0.00004
NM_006939.4(SOS2):c.3788C>G (p.Pro1263Arg)	rs569343105	0.00004
NM_006939.4(SOS2):c.532C>G (p.Gln178Glu)	rs770603835	0.00004
NM_014159.7(SETD2):c.4376G>A (p.Arg1459Gln)	rs777992018	0.00004
NM_014363.6(SACS):c.1224C>T (p.Asp408=)	rs2274386	0.00004
NM_014363.6(SACS):c.1791A>T (p.Ser597=)	rs371175405	0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)	rs775059063	0.00004
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)	rs376680832	0.00004
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala)	rs763504656	0.00004
NM_014625.4(NPHS2):c.851C>T (p.Ala284Val)	rs780761368	0.00004
NM_014795.4(ZEB2):c.295A>G (p.Asn99Asp)	rs150665982	0.00004
NM_014795.4(ZEB2):c.374C>T (p.Thr125Met)	rs727504227	0.00004
NM_014795.4(ZEB2):c.466C>T (p.Arg156Cys)	rs147021269	0.00004
NM_014795.4(ZEB2):c.768C>T (p.Leu256=)	rs370751674	0.00004
NM_015346.4(ZFYVE26):c.1597G>A (p.Ala533Thr)	rs551062468	0.00004
NM_017617.5(NOTCH1):c.1670-10C>T	rs751747178	0.00004
NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr)	rs775217381	0.00004
NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met)	rs199505287	0.00004
NM_017617.5(NOTCH1):c.2728G>A (p.Asp910Asn)	rs765293859	0.00004
NM_017617.5(NOTCH1):c.3121G>A (p.Gly1041Ser)	rs375260339	0.00004
NM_017617.5(NOTCH1):c.3905G>A (p.Arg1302His)	rs762091081	0.00004
NM_017617.5(NOTCH1):c.3980A>G (p.Asn1327Ser)	rs751874720	0.00004
NM_017617.5(NOTCH1):c.4185C>T (p.Asn1395=)	rs749570626	0.00004
NM_017617.5(NOTCH1):c.4652G>T (p.Ser1551Ile)	rs774068657	0.00004
NM_017617.5(NOTCH1):c.5542C>A (p.Leu1848Met)	rs35652719	0.00004
NM_017617.5(NOTCH1):c.5724C>T (p.Ala1908=)	rs555773558	0.00004
NM_017617.5(NOTCH1):c.573C>T (p.His191=)	rs763733336	0.00004
NM_017617.5(NOTCH1):c.6150C>T (p.Asn2050=)	rs757372588	0.00004
NM_017617.5(NOTCH1):c.6222C>T (p.Tyr2074=)	rs764551640	0.00004
NM_017617.5(NOTCH1):c.6383C>T (p.Pro2128Leu)	rs770713134	0.00004
NM_017617.5(NOTCH1):c.6453C>T (p.Pro2151=)	rs377302245	0.00004
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg)	rs761602495	0.00004
NM_018122.5(DARS2):c.536G>A (p.Arg179His)	rs121918210	0.00004
NM_020822.3(KCNT1):c.1614C>T (p.Arg538=)	rs368876173	0.00004
NM_020822.3(KCNT1):c.2841+10C>T	rs765179799	0.00004
NM_022455.5(NSD1):c.4307A>G (p.Tyr1436Cys)	rs574641900	0.00004
NM_024426.6(WT1):c.513C>A (p.Gly171=)	rs536728682	0.00004
NM_032520.5(GNPTG):c.412-14C>T	rs528538033	0.00004
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)	rs376128990	0.00004
NM_133433.4(NIPBL):c.1988A>C (p.Gln663Pro)	rs149892167	0.00004
NM_144988.4(ALG14):c.326G>A (p.Arg109Gln)	rs199689080	0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met)	rs587777577	0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)	rs62635654	0.00004
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del)	rs771903291	0.00004
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)	rs368687374	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_000022.4(ADA):c.21C>T (p.Phe7=)	rs925528695	0.00003
NM_000022.4(ADA):c.715G>A (p.Gly239Ser)	rs777820729	0.00003
NM_000023.4(SGCA):c.221G>A (p.Arg74Gln)	rs779439298	0.00003
NM_000023.4(SGCA):c.293G>A (p.Arg98His)	rs137852621	0.00003
NM_000023.4(SGCA):c.34G>A (p.Val12Met)	rs766209304	0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)	rs768814872	0.00003
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)	rs143962150	0.00003
NM_000049.4(ASPA):c.79G>A (p.Gly27Arg)	rs766328537	0.00003
NM_000051.4(ATM):c.2449G>C (p.Asp817His)	rs587778067	0.00003
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly)	rs587778069	0.00003
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=)	rs751202110	0.00003
NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu)	rs776668666	0.00003
NM_000053.4(ATP7B):c.2363C>T (p.Thr788Ile)	rs541408630	0.00003
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)	rs750019452	0.00003
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr)	rs201497300	0.00003
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val)	rs371840514	0.00003
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp)	rs746485916	0.00003
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His)	rs778749563	0.00003
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)	rs121907990	0.00003
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu)	rs758355520	0.00003
NM_000069.3(CACNA1S):c.1290G>A (p.Lys430=)	rs1241905770	0.00003
NM_000069.3(CACNA1S):c.1393+11A>T	rs753604199	0.00003
NM_000069.3(CACNA1S):c.1591C>T (p.Arg531Cys)	rs751671175	0.00003
NM_000069.3(CACNA1S):c.1845C>T (p.Asp615=)	rs200091030	0.00003
NM_000069.3(CACNA1S):c.225G>A (p.Pro75=)	rs143816534	0.00003
NM_000069.3(CACNA1S):c.3331G>A (p.Val1111Met)	rs200558548	0.00003
NM_000069.3(CACNA1S):c.445A>G (p.Thr149Ala)	rs74642988	0.00003
NM_000069.3(CACNA1S):c.4522C>G (p.Gln1508Glu)	rs970352258	0.00003
NM_000069.3(CACNA1S):c.665T>A (p.Met222Lys)	rs1287586310	0.00003
NM_000071.3(CBS):c.374G>A (p.Arg125Gln)	rs781444670	0.00003
NM_000093.5(COL5A1):c.3303C>T (p.Ile1101=)	rs760754491	0.00003
NM_000093.5(COL5A1):c.5371-15C>T	rs369764872	0.00003
NM_000098.3(CPT2):c.1429C>T (p.Arg477Trp)	rs770734793	0.00003
NM_000101.4(CYBA):c.528G>A (p.Ala176=)	rs762277251	0.00003
NM_000110.4(DPYD):c.1681C>T (p.Arg561Ter)	rs1057516968	0.00003
NM_000110.4(DPYD):c.208C>T (p.Arg70Ter)	rs141597515	0.00003
NM_000110.4(DPYD):c.2657G>A (p.Arg886His)	rs1801267	0.00003
NM_000152.5(GAA):c.1411G>A (p.Glu471Lys)	rs189402693	0.00003
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg)	rs759292700	0.00003
NM_000152.5(GAA):c.2151C>T (p.His717=)	rs758725073	0.00003
NM_000152.5(GAA):c.2154C>T (p.Val718=)	rs1800311	0.00003
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)	rs144016984	0.00003
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp)	rs61736895	0.00003
NM_000152.5(GAA):c.277G>A (p.Ala93Thr)	rs142481170	0.00003
NM_000152.5(GAA):c.2799+4A>G	rs778032599	0.00003
NM_000152.5(GAA):c.503G>A (p.Arg168Gln)	rs376685205	0.00003
NM_000154.2(GALK1):c.94G>A (p.Val32Met)	rs104894576	0.00003
NM_000158.4(GBE1):c.708G>C (p.Gln236His)	rs137852892	0.00003
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln)	rs869312163	0.00003
NM_000169.3(GLA):c.639+6A>C	rs200096940	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_000206.3(IL2RG):c.1061A>G (p.His354Arg)	rs771221019	0.00003
NM_000243.3(MEFV):c.1533G>A (p.Ala511=)	rs771061550	0.00003
NM_000243.3(MEFV):c.1758T>C (p.Asn586=)	rs202228332	0.00003
NM_000243.3(MEFV):c.2103G>A (p.Ala701=)	rs104895095	0.00003
NM_000243.3(MEFV):c.2123G>A (p.Arg708His)	rs200375017	0.00003
NM_000243.3(MEFV):c.2164G>A (p.Val722Met)	rs104895201	0.00003
NM_000243.3(MEFV):c.2263A>G (p.Ile755Val)	rs104895194	0.00003
NM_000243.3(MEFV):c.456G>A (p.Gly152=)	rs368333568	0.00003
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)	rs104895079	0.00003
NM_000243.3(MEFV):c.539C>T (p.Pro180Leu)	rs104895134	0.00003
NM_000268.4(NF2):c.1231C>T (p.Arg411Cys)	rs773296925	0.00003
NM_000268.4(NF2):c.1490G>C (p.Ser497Thr)	rs900545157	0.00003
NM_000268.4(NF2):c.1699G>A (p.Asp567Asn)	rs757586383	0.00003
NM_000268.4(NF2):c.170G>A (p.Arg57Gln)	rs368773485	0.00003
NM_000268.4(NF2):c.1774T>C (p.Phe592Leu)	rs764972504	0.00003
NM_000268.4(NF2):c.255T>C (p.Asp85=)	rs375802248	0.00003
NM_000268.4(NF2):c.683A>G (p.Lys228Arg)	rs145384260	0.00003
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu)	rs757286784	0.00003
NM_000275.3(OCA2):c.157del (p.Arg53fs)	rs758894409	0.00003
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)	rs780296175	0.00003
NM_000277.3(PAH):c.631C>A (p.Pro211Thr)	rs62514931	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_000359.3(TGM1):c.876+2T>C	rs151054393	0.00003
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln)	rs121918717	0.00003
NM_000368.5(TSC1):c.1007G>A (p.Arg336Gln)	rs397514808	0.00003
NM_000368.5(TSC1):c.114C>G (p.Gly38=)	rs776158461	0.00003
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile)	rs397514840	0.00003
NM_000368.5(TSC1):c.1317G>C (p.Leu439=)	rs770692313	0.00003
NM_000368.5(TSC1):c.1344T>G (p.Pro448=)	rs530908428	0.00003
NM_000368.5(TSC1):c.1439-4T>C	rs762473323	0.00003
NM_000368.5(TSC1):c.1506C>T (p.Gly502=)	rs772337076	0.00003
NM_000368.5(TSC1):c.1584C>T (p.Gly528=)	rs149439187	0.00003
NM_000368.5(TSC1):c.1585G>A (p.Ala529Thr)	rs751125011	0.00003
NM_000368.5(TSC1):c.1685C>G (p.Ala562Gly)	rs377185303	0.00003
NM_000368.5(TSC1):c.1721C>G (p.Thr574Ser)	rs548002938	0.00003
NM_000368.5(TSC1):c.1878G>A (p.Glu626=)	rs753424167	0.00003
NM_000368.5(TSC1):c.1922C>A (p.Pro641His)	rs397514863	0.00003
NM_000368.5(TSC1):c.2065C>T (p.Arg689Cys)	rs202241429	0.00003
NM_000368.5(TSC1):c.2357G>A (p.Arg786Gln)	rs1336228562	0.00003
NM_000368.5(TSC1):c.2478G>C (p.Leu826=)	rs149719514	0.00003
NM_000368.5(TSC1):c.2696C>G (p.Thr899Ser)	rs76801599	0.00003
NM_000368.5(TSC1):c.2700G>A (p.Gln900=)	rs560986491	0.00003
NM_000368.5(TSC1):c.2968G>A (p.Glu990Lys)	rs200398750	0.00003
NM_000368.5(TSC1):c.3005A>T (p.Asp1002Val)	rs202121327	0.00003
NM_000368.5(TSC1):c.3129C>T (p.Ser1043=)	rs201192125	0.00003
NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu)	rs201867031	0.00003
NM_000368.5(TSC1):c.3439A>G (p.Ser1147Gly)	rs768624733	0.00003
NM_000368.5(TSC1):c.379G>A (p.Val127Ile)	rs372215435	0.00003
NM_000368.5(TSC1):c.503A>C (p.Lys168Thr)	rs1007335343	0.00003
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys)	rs118203400	0.00003
NM_000368.5(TSC1):c.734G>A (p.Arg245Gln)	rs755859330	0.00003
NM_000368.5(TSC1):c.840A>G (p.Gln280=)	rs1171852730	0.00003
NM_000368.5(TSC1):c.850C>T (p.Arg284Cys)	rs140544652	0.00003
NM_000368.5(TSC1):c.87T>C (p.Phe29=)	rs745384145	0.00003
NM_000368.5(TSC1):c.932C>G (p.Pro311Arg)	rs776158460	0.00003
NM_000368.5(TSC1):c.941C>T (p.Thr314Met)	rs373454700	0.00003
NM_000372.5(TYR):c.1064C>T (p.Ala355Val)	rs151206295	0.00003
NM_000396.4(CTSK):c.746T>C (p.Ile249Thr)	rs199919553	0.00003
NM_000441.2(SLC26A4):c.1068C>T (p.Ile356=)	rs886061885	0.00003
NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro)	rs747431002	0.00003
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro)	rs201660407	0.00003
NM_000441.2(SLC26A4):c.2009T>C (p.Val670Ala)	rs200712253	0.00003
NM_000441.2(SLC26A4):c.2089+1G>A	rs727503430	0.00003
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met)	rs121908363	0.00003
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly)	rs757820624	0.00003
NM_000441.2(SLC26A4):c.601-5C>T	rs546450643	0.00003
NM_000455.5(STK11):c.1035C>T (p.His345=)	rs751619208	0.00003
NM_000455.5(STK11):c.1039G>A (p.Ala347Thr)	rs369744528	0.00003
NM_000455.5(STK11):c.1063G>C (p.Asp355His)	rs769403473	0.00003
NM_000455.5(STK11):c.1100C>T (p.Thr367Met)	rs587782835	0.00003
NM_000455.5(STK11):c.1109-5C>T	rs587782020	0.00003
NM_000455.5(STK11):c.1118C>T (p.Pro373Leu)	rs876661153	0.00003
NM_000455.5(STK11):c.1130C>T (p.Ala377Val)	rs199973552	0.00003
NM_000455.5(STK11):c.1168G>C (p.Val390Leu)	rs374078532	0.00003
NM_000455.5(STK11):c.1200G>A (p.Leu400=)	rs368661707	0.00003
NM_000455.5(STK11):c.1226G>A (p.Arg409Gln)	rs587782364	0.00003
NM_000455.5(STK11):c.1229C>T (p.Ala410Val)	rs372329880	0.00003
NM_000455.5(STK11):c.1258G>T (p.Ala420Ser)	rs762482152	0.00003
NM_000455.5(STK11):c.316C>T (p.Arg106Trp)	rs587782115	0.00003
NM_000455.5(STK11):c.374+9T>A	rs762297795	0.00003
NM_000455.5(STK11):c.439C>T (p.Arg147Cys)	rs748464757	0.00003
NM_000455.5(STK11):c.566C>T (p.Thr189Ile)	rs587781515	0.00003
NM_000455.5(STK11):c.57G>C (p.Ser19=)	rs748698151	0.00003
NM_000455.5(STK11):c.613G>A (p.Ala205Thr)	rs730881981	0.00003
NM_000455.5(STK11):c.615G>A (p.Ala205=)	rs532889728	0.00003
NM_000455.5(STK11):c.651G>A (p.Pro217=)	rs368348370	0.00003
NM_000455.5(STK11):c.827G>T (p.Gly276Val)	rs749927908	0.00003
NM_000455.5(STK11):c.828C>T (p.Gly276=)	rs200824447	0.00003
NM_000455.5(STK11):c.876C>T (p.Tyr292=)	rs148928808	0.00003
NM_000455.5(STK11):c.911G>A (p.Arg304Gln)	rs376280361	0.00003
NM_000492.4(CFTR):c.1117G>A (p.Asp373Asn)	rs556880586	0.00003
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)	rs73215912	0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)	rs193922501	0.00003
NM_000492.4(CFTR):c.1679+9C>G	rs775440240	0.00003
NM_000492.4(CFTR):c.2758G>A (p.Val920Met)	rs373885282	0.00003
NM_000492.4(CFTR):c.2835G>A (p.Ser945=)	rs193922513	0.00003
NM_000492.4(CFTR):c.3038C>A (p.Pro1013His)	rs193922516	0.00003
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val)	rs397508670	0.00003
NM_000512.5(GALNS):c.1485C>G (p.Asn495Lys)	rs886039377	0.00003
NM_000512.5(GALNS):c.331C>T (p.Gln111Ter)	rs200374326	0.00003
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp)	rs761385192	0.00003
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr)	rs118204448	0.00003
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe)	rs149239881	0.00003
NM_000528.4(MAN2B1):c.1A>G (p.Met1Val)	rs967834240	0.00003
NM_000528.4(MAN2B1):c.2298C>T (p.Asn766=)	rs746514019	0.00003
NM_000546.6(TP53):c.1119G>A (p.Lys373=)	rs1342613419	0.00003
NM_000546.6(TP53):c.1149C>A (p.Leu383=)	rs373710656	0.00003
NM_000546.6(TP53):c.168A>G (p.Glu56=)	rs574255227	0.00003
NM_000546.6(TP53):c.180A>C (p.Pro60=)	rs749289195	0.00003
NM_000546.6(TP53):c.246G>A (p.Pro82=)	rs372397095	0.00003
NM_000546.6(TP53):c.382C>A (p.Pro128Thr)	rs1555526327	0.00003
NM_000546.6(TP53):c.459C>T (p.Pro153=)	rs72661116	0.00003
NM_000548.5(TSC2):c.1059C>T (p.Leu353=)	rs796053472	0.00003
NM_000548.5(TSC2):c.108G>A (p.Thr36=)	rs781075483	0.00003
NM_000548.5(TSC2):c.1095C>T (p.Ile365=)	rs757135168	0.00003
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys)	rs45517148	0.00003
NM_000548.5(TSC2):c.1150G>A (p.Val384Ile)	rs397514881	0.00003
NM_000548.5(TSC2):c.1317C>T (p.Asp439=)	rs777457815	0.00003
NM_000548.5(TSC2):c.1600-10C>T	rs768188836	0.00003
NM_000548.5(TSC2):c.1600-9T>C	rs886043268	0.00003
NM_000548.5(TSC2):c.1600G>T (p.Val534Leu)	rs587778729	0.00003
NM_000548.5(TSC2):c.1627C>T (p.Pro543Ser)	rs1060500944	0.00003
NM_000548.5(TSC2):c.1775G>A (p.Ser592Asn)	rs374371998	0.00003
NM_000548.5(TSC2):c.1815A>G (p.Pro605=)	rs961687056	0.00003
NM_000548.5(TSC2):c.1991C>T (p.Ser664Phe)	rs991714565	0.00003
NM_000548.5(TSC2):c.2015C>T (p.Pro672Leu)	rs768864353	0.00003
NM_000548.5(TSC2):c.2019G>A (p.Ala673=)	rs772993105	0.00003
NM_000548.5(TSC2):c.2072G>T (p.Arg691Leu)	rs370553131	0.00003
NM_000548.5(TSC2):c.2097+13G>A	rs367915255	0.00003
NM_000548.5(TSC2):c.2220+11C>T	rs372555496	0.00003
NM_000548.5(TSC2):c.2348C>G (p.Thr783Ser)	rs562945619	0.00003
NM_000548.5(TSC2):c.2545+9C>G	rs369385105	0.00003
NM_000548.5(TSC2):c.2545A>G (p.Thr849Ala)	rs781713438	0.00003
NM_000548.5(TSC2):c.299C>T (p.Ala100Val)	rs375824753	0.00003
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys)	rs796053492	0.00003
NM_000548.5(TSC2):c.3196C>T (p.Leu1066Phe)	rs886051793	0.00003
NM_000548.5(TSC2):c.3210G>A (p.Thr1070=)	rs539927192	0.00003
NM_000548.5(TSC2):c.3240A>G (p.Leu1080=)	rs371514669	0.00003
NM_000548.5(TSC2):c.3254C>T (p.Ser1085Leu)	rs45517287	0.00003
NM_000548.5(TSC2):c.325G>A (p.Val109Met)	rs369932305	0.00003
NM_000548.5(TSC2):c.3281C>G (p.Ser1094Trp)	rs397514887	0.00003
NM_000548.5(TSC2):c.3295G>A (p.Gly1099Arg)	rs776855601	0.00003
NM_000548.5(TSC2):c.3377A>T (p.Asp1126Val)	rs397514945	0.00003
NM_000548.5(TSC2):c.3413G>A (p.Arg1138Gln)	rs143168379	0.00003
NM_000548.5(TSC2):c.3476G>T (p.Arg1159Leu)	rs45473098	0.00003
NM_000548.5(TSC2):c.3492G>A (p.Ala1164=)	rs769562717	0.00003
NM_000548.5(TSC2):c.3542C>T (p.Thr1181Met)	rs373481458	0.00003
NM_000548.5(TSC2):c.395C>G (p.Ser132Cys)	rs137854391	0.00003
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met)	rs397515209	0.00003
NM_000548.5(TSC2):c.4086C>T (p.Val1362=)	rs763847509	0.00003
NM_000548.5(TSC2):c.4108C>T (p.Pro1370Ser)	rs747293303	0.00003
NM_000548.5(TSC2):c.4167C>T (p.Pro1389=)	rs45508504	0.00003
NM_000548.5(TSC2):c.4194C>T (p.Leu1398=)	rs1060504106	0.00003
NM_000548.5(TSC2):c.4218C>T (p.Asp1406=)	rs886051794	0.00003
NM_000548.5(TSC2):c.4219G>A (p.Val1407Met)	rs45517332	0.00003
NM_000548.5(TSC2):c.4323C>T (p.Pro1441=)	rs536527623	0.00003
NM_000548.5(TSC2):c.4332C>T (p.Pro1444=)	rs373973956	0.00003
NM_000548.5(TSC2):c.4346C>T (p.Ser1449Phe)	rs759004251	0.00003
NM_000548.5(TSC2):c.4355C>T (p.Ser1452Leu)	rs45517339	0.00003
NM_000548.5(TSC2):c.4426G>A (p.Glu1476Lys)	rs376946970	0.00003
NM_000548.5(TSC2):c.4446C>T (p.Ser1482=)	rs780955293	0.00003
NM_000548.5(TSC2):c.444C>T (p.Asp148=)	rs767968378	0.00003
NM_000548.5(TSC2):c.450G>A (p.Gly150=)	rs372000734	0.00003
NM_000548.5(TSC2):c.4746C>T (p.Ile1582=)	rs751305758	0.00003
NM_000548.5(TSC2):c.481+8C>T	rs758228838	0.00003
NM_000548.5(TSC2):c.4812C>A (p.Gly1604=)	rs397515103	0.00003
NM_000548.5(TSC2):c.4849+4C>T	rs370426490	0.00003
NM_000548.5(TSC2):c.4849+5G>A	rs1198379006	0.00003
NM_000548.5(TSC2):c.4854C>T (p.Val1618=)	rs45517378	0.00003
NM_000548.5(TSC2):c.493C>T (p.Leu165=)	rs758521946	0.00003
NM_000548.5(TSC2):c.5017G>A (p.Val1673Ile)	rs45490993	0.00003
NM_000548.5(TSC2):c.5041A>G (p.Asn1681Asp)	rs1200837034	0.00003
NM_000548.5(TSC2):c.5095G>A (p.Val1699Met)	rs370864445	0.00003
NM_000548.5(TSC2):c.5122C>T (p.Leu1708=)	rs1168265181	0.00003
NM_000548.5(TSC2):c.5260-1G>C	rs1057518103	0.00003
NM_000548.5(TSC2):c.5266G>A (p.Glu1756Lys)	rs375075952	0.00003
NM_000548.5(TSC2):c.5362T>G (p.Tyr1788Asp)	rs904411432	0.00003
NM_000548.5(TSC2):c.538C>G (p.Leu180Val)	rs45485591	0.00003
NM_000548.5(TSC2):c.583A>G (p.Ile195Val)	rs148325559	0.00003
NM_000548.5(TSC2):c.586G>A (p.Ala196Thr)	rs45517113	0.00003
NM_000548.5(TSC2):c.627C>T (p.Thr209=)	rs776293094	0.00003
NM_000548.5(TSC2):c.672C>T (p.Ala224=)	rs138897064	0.00003
NM_000548.5(TSC2):c.673G>A (p.Val225Met)	rs142919353	0.00003
NM_000548.5(TSC2):c.734G>A (p.Arg245His)	rs397515011	0.00003
NM_000548.5(TSC2):c.828G>A (p.Met276Ile)	rs1318274503	0.00003
NM_000548.5(TSC2):c.849-9dup	rs764626623	0.00003
NM_000548.5(TSC2):c.864C>T (p.Asp288=)	rs780887572	0.00003
NM_000548.5(TSC2):c.921C>G (p.His307Gln)	rs878854121	0.00003
NM_000548.5(TSC2):c.922C>T (p.Arg308Trp)	rs201144475	0.00003
NM_000642.3(AGL):c.16C>T (p.Gln6Ter)	rs113994126	0.00003
NM_000642.3(AGL):c.3345A>T (p.Gly1115=)	rs758265909	0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)	rs387906244	0.00003
NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter)	rs376456598	0.00003
NM_000709.4(BCKDHA):c.288+9C>T	rs398123497	0.00003
NM_000709.4(BCKDHA):c.330A>T (p.Thr110=)	rs201366184	0.00003
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His)	rs200137189	0.00003
NM_001006658.3(CR2):c.2625C>A (p.Cys875Ter)	rs751868289	0.00003
NM_001042492.3(NF1):c.*4T>C	rs201044568	0.00003
NM_001042492.3(NF1):c.100G>A (p.Val34Ile)	rs772995929	0.00003
NM_001042492.3(NF1):c.134A>G (p.Asn45Ser)	rs753189381	0.00003
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser)	rs779727341	0.00003
NM_001042492.3(NF1):c.1975C>T (p.Arg659Trp)	rs757512142	0.00003
NM_001042492.3(NF1):c.2570A>G (p.Asn857Ser)	rs1060500299	0.00003
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser)	rs200302954	0.00003
NM_001042492.3(NF1):c.2747A>G (p.Asn916Ser)	rs765043916	0.00003
NM_001042492.3(NF1):c.2821A>G (p.Ile941Val)	rs876659888	0.00003
NM_001042492.3(NF1):c.2999G>A (p.Arg1000His)	rs753082620	0.00003
NM_001042492.3(NF1):c.3145G>A (p.Val1049Ile)	rs1060500343	0.00003
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser)	rs146641724	0.00003
NM_001042492.3(NF1):c.3947A>G (p.His1316Arg)	rs751023085	0.00003
NM_001042492.3(NF1):c.3975-12A>G	rs750100751	0.00003
NM_001042492.3(NF1):c.4835+5G>C	rs786201306	0.00003
NM_001042492.3(NF1):c.5793T>C (p.Ile1931=)	rs779114598	0.00003
NM_001042492.3(NF1):c.6082G>A (p.Ala2028Thr)	rs767869530	0.00003
NM_001042492.3(NF1):c.6781C>T (p.His2261Tyr)	rs750869272	0.00003
NM_001042492.3(NF1):c.696A>G (p.Thr232=)	rs368691517	0.00003
NM_001042492.3(NF1):c.7003A>G (p.Thr2335Ala)	rs370209920	0.00003
NM_001042492.3(NF1):c.8216T>C (p.Ile2739Thr)	rs752541243	0.00003
NM_001042492.3(NF1):c.8479G>T (p.Ala2827Ser)	rs199878086	0.00003
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg)	rs374163823	0.00003
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu)	rs779160677	0.00003
NM_001126108.2(SLC12A3):c.2082C>T (p.Asn694=)	rs370145822	0.00003
NM_001126108.2(SLC12A3):c.2253G>A (p.Pro751=)	rs776382586	0.00003
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp)	rs201255508	0.00003
NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys)	rs146158333	0.00003
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val)	rs140551719	0.00003
NM_001182.5(ALDH7A1):c.1547A>G (p.Tyr516Cys)	rs200102503	0.00003
NM_001232.4(CASQ2):c.1097T>C (p.Leu366Pro)	rs762153545	0.00003
NM_001253852.3(AP4B1):c.1044G>A (p.Val348=)	rs763730264	0.00003
NM_001276345.2(TNNT2):c.721G>C (p.Glu241Gln)	rs1189945246	0.00003
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys)	rs80338864	0.00003
NM_001365088.1(SLC12A6):c.1005C>T (p.Ile335=)	rs35855196	0.00003
NM_001365088.1(SLC12A6):c.2385C>T (p.Val795=)	rs562984167	0.00003
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu)	rs397514427	0.00003
NM_001374828.1(ARID1B):c.1238G>C (p.Gly413Ala)	rs749315126	0.00003
NM_001918.5(DBT):c.198G>A (p.Gln66=)	rs201714436	0.00003
NM_002016.2(FLG):c.138+1G>C	rs756254959	0.00003
NM_002016.2(FLG):c.7661C>G (p.Ser2554Ter)	rs121909626	0.00003
NM_002485.5(NBN):c.1089C>T (p.Tyr363=)	rs121908974	0.00003
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro)	rs199657566	0.00003
NM_002485.5(NBN):c.207A>G (p.Lys69=)	rs754352569	0.00003
NM_002485.5(NBN):c.702+9G>A	rs748373099	0.00003
NM_002506.3(NGF):c.173C>T (p.Ala58Val)	rs201861727	0.00003
NM_002529.4(NTRK1):c.1354+1G>T	rs764771898	0.00003
NM_003060.4(SLC22A5):c.1053-2A>C	rs777004046	0.00003
NM_003060.4(SLC22A5):c.1113C>T (p.Asp371=)	rs200637508	0.00003
NM_003060.4(SLC22A5):c.1202dup (p.Tyr401Ter)	rs121908887	0.00003
NM_003060.4(SLC22A5):c.1229G>A (p.Gly410Asp)	rs200125400	0.00003
NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val)	rs199689597	0.00003
NM_003060.4(SLC22A5):c.1587-11T>G	rs772775759	0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)	rs151231558	0.00003
NM_003060.4(SLC22A5):c.453G>A (p.Val151=)	rs386134194	0.00003
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln)	rs121908889	0.00003
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter)	rs386833807	0.00003
NM_003982.4(SLC7A7):c.1494T>C (p.Asp498=)	rs765682604	0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)	rs773528125	0.00003
NM_004525.3(LRP2):c.13002C>T (p.Cys4334=)	rs774133574	0.00003
NM_004700.4(KCNQ4):c.682G>T (p.Gly228Cys)	rs367890569	0.00003
NM_006493.4(CLN5):c.522dup (p.Trp175fs)	rs386833979	0.00003
NM_006493.4(CLN5):c.935T>C (p.Phe312Ser)	rs201767993	0.00003
NM_006939.4(SOS2):c.1264G>A (p.Glu422Lys)	rs375244948	0.00003
NM_006939.4(SOS2):c.3902A>G (p.His1301Arg)	rs759124324	0.00003
NM_007315.4(STAT1):c.1713T>G (p.Pro571=)	rs772114461	0.00003
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter)	rs727504157	0.00003
NM_013275.6(ANKRD11):c.6085G>A (p.Val2029Ile)	rs199785661	0.00003
NM_014159.7(SETD2):c.7355C>T (p.Ser2452Leu)	rs775780402	0.00003
NM_014363.6(SACS):c.151C>T (p.Leu51=)	rs979224977	0.00003
NM_014363.6(SACS):c.5169A>G (p.Ala1723=)	rs200699984	0.00003
NM_014363.6(SACS):c.7101G>A (p.Ala2367=)	rs764702321	0.00003
NM_014363.6(SACS):c.7497C>T (p.Val2499=)	rs774558627	0.00003
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)	rs202199411	0.00003
NM_014625.4(NPHS2):c.643C>T (p.Gln215Ter)	rs778055996	0.00003
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser)	rs748812981	0.00003
NM_014795.4(ZEB2):c.1533C>T (p.Val511=)	rs587780994	0.00003
NM_014795.4(ZEB2):c.1836G>A (p.Ala612=)	rs754916469	0.00003
NM_014795.4(ZEB2):c.2004G>T (p.Glu668Asp)	rs767506087	0.00003
NM_014795.4(ZEB2):c.2255C>T (p.Thr752Met)	rs143438888	0.00003
NM_014795.4(ZEB2):c.2541C>T (p.Asn847=)	rs759097498	0.00003
NM_014795.4(ZEB2):c.332-6C>T	rs730881186	0.00003
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs)	rs776470487	0.00003
NM_015346.4(ZFYVE26):c.2105G>A (p.Arg702His)	rs201339450	0.00003
NM_015506.3(MMACHC):c.495G>A (p.Leu165=)	rs761111018	0.00003
NM_015602.4(TOR1AIP1):c.554-1G>A	rs200993053	0.00003
NM_017617.5(NOTCH1):c.1262A>G (p.Asn421Ser)	rs928512979	0.00003
NM_017617.5(NOTCH1):c.1543G>C (p.Glu515Gln)	rs749085650	0.00003
NM_017617.5(NOTCH1):c.1747G>A (p.Gly583Ser)	rs757066417	0.00003
NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu)	rs576030298	0.00003
NM_017617.5(NOTCH1):c.2458C>T (p.Pro820Ser)	rs1379596542	0.00003
NM_017617.5(NOTCH1):c.2520C>T (p.Asn840=)	rs546222078	0.00003
NM_017617.5(NOTCH1):c.2882C>T (p.Thr961Met)	rs377343669	0.00003
NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His)	rs777684045	0.00003
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met)	rs112900950	0.00003
NM_017617.5(NOTCH1):c.4078G>A (p.Gly1360Ser)	rs769493139	0.00003
NM_017617.5(NOTCH1):c.4326G>A (p.Pro1442=)	rs376469653	0.00003
NM_017617.5(NOTCH1):c.4793G>A (p.Arg1598His)	rs755124691	0.00003
NM_017617.5(NOTCH1):c.500C>T (p.Pro167Leu)	rs370951369	0.00003
NM_017617.5(NOTCH1):c.5733C>T (p.Ser1911=)	rs61751534	0.00003
NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr)	rs544856644	0.00003
NM_017617.5(NOTCH1):c.6294C>T (p.Arg2098=)	rs777111928	0.00003
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser)	rs201518848	0.00003
NM_017617.5(NOTCH1):c.6577A>G (p.Ser2193Gly)	rs1060502236	0.00003
NM_017617.5(NOTCH1):c.7115G>A (p.Arg2372Gln)	rs373119531	0.00003
NM_017617.5(NOTCH1):c.7279G>A (p.Gly2427Ser)	rs370722609	0.00003
NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp)	rs763902589	0.00003
NM_018122.5(DARS2):c.172C>G (p.Arg58Gly)	rs375700548	0.00003
NM_018136.5(ASPM):c.9553G>C (p.Ala3185Pro)	rs375985254	0.00003
NM_020822.3(KCNT1):c.1996A>T (p.Ile666Phe)	rs376231681	0.00003
NM_020822.3(KCNT1):c.2050A>C (p.Thr684Pro)	rs756570347	0.00003
NM_020822.3(KCNT1):c.2201A>G (p.Asp734Gly)	rs1360863995	0.00003
NM_020822.3(KCNT1):c.3045C>T (p.Gly1015=)	rs576099213	0.00003
NM_022356.4(P3H1):c.2055+18G>A	rs137853890	0.00003
NM_022455.5(NSD1):c.6045T>C (p.Tyr2015=)	rs745760201	0.00003
NM_022455.5(NSD1):c.682C>G (p.Pro228Ala)	rs770522999	0.00003
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu)	rs576113399	0.00003
NM_025137.4(SPG11):c.2834+1G>T	rs312262749	0.00003
NM_025137.4(SPG11):c.581C>T (p.Pro194Leu)	rs573482671	0.00003
NM_032520.5(GNPTG):c.234-8G>T	rs369333639	0.00003
NM_032520.5(GNPTG):c.42C>T (p.Leu14=)	rs776361173	0.00003
NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter)	rs1220930025	0.00003
NM_133433.4(NIPBL):c.2768G>T (p.Gly923Val)	rs200991784	0.00003
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter)	rs773770609	0.00003
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs)	rs398124572	0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	rs28939720	0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)	rs767648174	0.00003
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)	rs397517963	0.00003
NM_206933.4(USH2A):c.15297+1G>C	rs767630412	0.00003
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala)	rs372081834	0.00003
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg)	rs1342455785	0.00003
NM_206933.4(USH2A):c.7517A>G (p.Tyr2506Cys)	rs937606032	0.00003
NM_206933.4(USH2A):c.7595-3C>G	rs201657446	0.00003
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter)	rs766590491	0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=)	rs111033272	0.00003
NM_206933.4(USH2A):c.9571-2A>G	rs751111524	0.00003
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)	rs764182950	0.00003
NM_000017.4(ACADS):c.1130C>T (p.Pro377Leu)	rs183161718	0.00002
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu)	rs147442301	0.00002
NM_000018.4(ACADVL):c.963C>T (p.Asn321=)	rs568118142	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.941A>G (p.Asp314Gly)	rs547569818	0.00002
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)	rs758647756	0.00002
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu)	rs200849757	0.00002
NM_000048.4(ASL):c.243G>C (p.Leu81=)	rs774204716	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_000053.4(ATP7B):c.1230A>G (p.Pro410=)	rs772843652	0.00002
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val)	rs1555291801	0.00002
NM_000053.4(ATP7B):c.2122-3C>T	rs1593726901	0.00002
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met)	rs786204718	0.00002
NM_000053.4(ATP7B):c.2712A>G (p.Glu904=)	rs146232015	0.00002
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp)	rs779323689	0.00002
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys)	rs756029120	0.00002
NM_000053.4(ATP7B):c.3582C>T (p.Ile1194=)	rs761183334	0.00002
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro)	rs568009639	0.00002
NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys)	rs80338778	0.00002
NM_000069.3(CACNA1S):c.1637G>A (p.Ser546Asn)	rs373525085	0.00002
NM_000069.3(CACNA1S):c.2539A>G (p.Ile847Val)	rs764821044	0.00002
NM_000069.3(CACNA1S):c.2838C>T (p.Gly946=)	rs759934490	0.00002
NM_000069.3(CACNA1S):c.2922G>A (p.Val974=)	rs377715551	0.00002
NM_000069.3(CACNA1S):c.702G>T (p.Val234=)	rs752724350	0.00002
NM_000069.3(CACNA1S):c.758G>A (p.Arg253Gln)	rs768015104	0.00002
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu)	rs534253913	0.00002
NM_000093.5(COL5A1):c.1293G>T (p.Gly431=)	rs373460629	0.00002
NM_000098.3(CPT2):c.1645+7C>T	rs200596483	0.00002
NM_000152.5(GAA):c.1053G>T (p.Val351=)	rs773063199	0.00002
NM_000152.5(GAA):c.1560C>T (p.Asn520=)	rs116322271	0.00002
NM_000152.5(GAA):c.216C>T (p.Pro72=)	rs753287841	0.00002
NM_000152.5(GAA):c.2190-4G>A	rs759974338	0.00002
NM_000152.5(GAA):c.317G>A (p.Arg106His)	rs772534106	0.00002
NM_000152.5(GAA):c.67A>G (p.Thr23Ala)	rs2289537	0.00002
NM_000152.5(GAA):c.687C>T (p.Arg229=)	rs149814041	0.00002
NM_000152.5(GAA):c.705G>A (p.Thr235=)	rs2304846	0.00002
NM_000152.5(GAA):c.868A>G (p.Asn290Asp)	rs552929702	0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)	rs750030887	0.00002
NM_000169.3(GLA):c.1181T>C (p.Leu394Pro)	rs886044779	0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His)	rs372966991	0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr)	rs727503950	0.00002
NM_000169.3(GLA):c.868A>C (p.Met290Leu)	rs375538532	0.00002
NM_000186.4(CFH):c.1507C>G (p.Pro503Ala)	rs570523689	0.00002
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu)	rs121964996	0.00002
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe)	rs780239925	0.00002
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg)	rs761607612	0.00002
NM_000206.3(IL2RG):c.201C>T (p.Val67=)	rs756100347	0.00002
NM_000243.3(MEFV):c.1005C>T (p.Pro335=)	rs567739580	0.00002
NM_000243.3(MEFV):c.1082G>C (p.Arg361Thr)	rs190405488	0.00002
NM_000243.3(MEFV):c.1089C>T (p.Ser363=)	rs104895170	0.00002
NM_000243.3(MEFV):c.1898C>T (p.Pro633Leu)	rs976279218	0.00002
NM_000243.3(MEFV):c.192G>A (p.Glu64=)	rs547393490	0.00002
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp)	rs111033233	0.00002
NM_000268.4(NF2):c.1013G>A (p.Arg338His)	rs768053145	0.00002
NM_000268.4(NF2):c.1018G>A (p.Ala340Thr)	rs780430071	0.00002
NM_000268.4(NF2):c.1052G>A (p.Arg351His)	rs771675702	0.00002
NM_000268.4(NF2):c.599+3G>A	rs768301915	0.00002
NM_000277.3(PAH):c.1065+39G>T	rs62510582	0.00002
NM_000277.3(PAH):c.1218A>G (p.Ile406Met)	rs773526027	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_000368.5(TSC1):c.1251A>G (p.Thr417=)	rs147127442	0.00002
NM_000368.5(TSC1):c.1256C>G (p.Pro419Arg)	rs878853959	0.00002
NM_000368.5(TSC1):c.1273A>G (p.Met425Val)	rs753199284	0.00002
NM_000368.5(TSC1):c.1328G>T (p.Gly443Val)	rs1489175329	0.00002
NM_000368.5(TSC1):c.1631G>A (p.Gly544Glu)	rs770570830	0.00002
NM_000368.5(TSC1):c.1678G>A (p.Gly560Ser)	rs746304922	0.00002
NM_000368.5(TSC1):c.167C>T (p.Pro56Leu)	rs750512029	0.00002
NM_000368.5(TSC1):c.1809G>T (p.Pro603=)	rs112434645	0.00002
NM_000368.5(TSC1):c.1934C>T (p.Pro645Leu)	rs1269162063	0.00002
NM_000368.5(TSC1):c.2034C>T (p.His678=)	rs201392975	0.00002
NM_000368.5(TSC1):c.2077G>C (p.Asp693His)	rs397514800	0.00002
NM_000368.5(TSC1):c.2303G>A (p.Arg768His)	rs1033725987	0.00002
NM_000368.5(TSC1):c.2322G>A (p.Lys774=)	rs772038670	0.00002
NM_000368.5(TSC1):c.2323C>T (p.Leu775Phe)	rs868755168	0.00002
NM_000368.5(TSC1):c.2424G>A (p.Ala808=)	rs200651872	0.00002
NM_000368.5(TSC1):c.2882A>G (p.Glu961Gly)	rs760762170	0.00002
NM_000368.5(TSC1):c.2924T>A (p.Leu975Gln)	rs549467159	0.00002
NM_000368.5(TSC1):c.3075C>T (p.Ser1025=)	rs765753157	0.00002
NM_000368.5(TSC1):c.3080G>A (p.Arg1027Gln)	rs796053461	0.00002
NM_000368.5(TSC1):c.3112A>G (p.Ser1038Gly)	rs768443391	0.00002
NM_000368.5(TSC1):c.3172C>A (p.Pro1058Thr)	rs112066743	0.00002
NM_000368.5(TSC1):c.3195G>A (p.Thr1065=)	rs118203746	0.00002
NM_000368.5(TSC1):c.3237C>T (p.Gly1079=)	rs749995749	0.00002
NM_000368.5(TSC1):c.3249T>C (p.Ser1083=)	rs761673589	0.00002
NM_000368.5(TSC1):c.3253A>G (p.Lys1085Glu)	rs1442514678	0.00002
NM_000368.5(TSC1):c.3266G>C (p.Gly1089Ala)	rs762845573	0.00002
NM_000368.5(TSC1):c.3364G>A (p.Gly1122Ser)	rs760918561	0.00002
NM_000368.5(TSC1):c.3396C>T (p.Pro1132=)	rs774980129	0.00002
NM_000368.5(TSC1):c.3397C>T (p.Leu1133=)	rs1244090738	0.00002
NM_000368.5(TSC1):c.370A>G (p.Thr124Ala)	rs745871522	0.00002
NM_000368.5(TSC1):c.531C>T (p.Leu177=)	rs752615412	0.00002
NM_000368.5(TSC1):c.593A>G (p.Asn198Ser)	rs577983115	0.00002
NM_000368.5(TSC1):c.597C>T (p.Phe199=)	rs202242304	0.00002
NM_000368.5(TSC1):c.696A>G (p.Glu232=)	rs1588345709	0.00002
NM_000368.5(TSC1):c.819T>G (p.Asp273Glu)	rs148756522	0.00002
NM_000368.5(TSC1):c.89A>G (p.Lys30Arg)	rs796053452	0.00002
NM_000368.5(TSC1):c.917G>A (p.Cys306Tyr)	rs752290177	0.00002
NM_000368.5(TSC1):c.930C>T (p.Thr310=)	rs759004332	0.00002
NM_000372.5(TYR):c.265T>C (p.Cys89Arg)	rs28940877	0.00002
NM_000410.4(HFE):c.546_547del (p.Leu183fs)	rs765804978	0.00002
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His)	rs111033254	0.00002
NM_000441.2(SLC26A4):c.165-1G>A	rs759792660	0.00002
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys)	rs763006761	0.00002
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter)	rs368119540	0.00002
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu)	rs199588131	0.00002
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe)	rs760040670	0.00002
NM_000441.2(SLC26A4):c.55del (p.Ser19fs)	rs1057516634	0.00002
NM_000455.5(STK11):c.1050C>T (p.Asp350=)	rs779583262	0.00002
NM_000455.5(STK11):c.1109-14C>T	rs780434041	0.00002
NM_000455.5(STK11):c.1168G>A (p.Val390Met)	rs374078532	0.00002
NM_000455.5(STK11):c.1179C>T (p.Asn393=)	rs863224360	0.00002
NM_000455.5(STK11):c.1193C>T (p.Ala398Val)	rs768058962	0.00002
NM_000455.5(STK11):c.310A>G (p.Arg104Gly)	rs587782783	0.00002
NM_000455.5(STK11):c.355A>G (p.Asn119Asp)	rs545015076	0.00002
NM_000455.5(STK11):c.464+5G>A	rs587781681	0.00002
NM_000455.5(STK11):c.552C>T (p.Leu184=)	rs587780719	0.00002
NM_000455.5(STK11):c.608C>T (p.Pro203Leu)	rs587782379	0.00002
NM_000455.5(STK11):c.735C>G (p.Leu245=)	rs773147894	0.00002
NM_000455.5(STK11):c.901C>T (p.Arg301Trp)	rs587780012	0.00002
NM_000455.5(STK11):c.921-8G>A	rs863224362	0.00002
NM_000455.5(STK11):c.944C>T (p.Pro315Leu)	rs766958608	0.00002
NM_000455.5(STK11):c.972G>A (p.Pro324=)	rs553474397	0.00002
NM_000455.5(STK11):c.984C>G (p.Thr328=)	rs730881965	0.00002
NM_000466.3(PEX1):c.3166T>C (p.Leu1056=)	rs1009877821	0.00002
NM_000486.6(AQP2):c.438C>T (p.Phe146=)	rs143886391	0.00002
NM_000489.6(ATRX):c.3387G>A (p.Leu1129=)	rs3761507	0.00002
NM_000492.4(CFTR):c.127G>A (p.Val43Ile)	rs370586917	0.00002
NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg)	rs368516826	0.00002
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn)	rs397508300	0.00002
NM_000492.4(CFTR):c.2259C>T (p.Ser753=)	rs201888075	0.00002
NM_000492.4(CFTR):c.328G>C (p.Asp110His)	rs113993958	0.00002
NM_000492.4(CFTR):c.627A>G (p.Ala209=)	rs397508773	0.00002
NM_000492.4(CFTR):c.869+8G>T	rs773933167	0.00002
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu)	rs371429653	0.00002
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)	rs559063128	0.00002
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser)	rs118204446	0.00002
NM_000512.5(GALNS):c.986A>C (p.His329Pro)	rs760892654	0.00002
NM_000518.5(HBB):c.82G>T (p.Ala28Ser)	rs35424040	0.00002
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)	rs730882096	0.00002
NM_000528.4(MAN2B1):c.1587G>T (p.Pro529=)	rs771761940	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.597C>T (p.Gly199=)	rs200872797	0.00002
NM_000546.6(TP53):c.-12C>T	rs375229869	0.00002
NM_000546.6(TP53):c.18A>C (p.Ser6=)	rs573130482	0.00002
NM_000546.6(TP53):c.234A>G (p.Ala78=)	rs375099397	0.00002
NM_000546.6(TP53):c.249G>A (p.Ala83=)	rs55754907	0.00002
NM_000546.6(TP53):c.297C>T (p.Ser99=)	rs751494750	0.00002
NM_000546.6(TP53):c.510G>A (p.Thr170=)	rs757544615	0.00002
NM_000546.6(TP53):c.555C>T (p.Ser185=)	rs367560109	0.00002
NM_000546.6(TP53):c.582T>C (p.Leu194=)	rs370216745	0.00002
NM_000546.6(TP53):c.732C>T (p.Gly244=)	rs759625762	0.00002
NM_000548.5(TSC2):c.101A>C (p.Lys34Thr)	rs777988634	0.00002
NM_000548.5(TSC2):c.1071G>A (p.Ala357=)	rs776395163	0.00002
NM_000548.5(TSC2):c.1093A>G (p.Ile365Val)	rs370403197	0.00002
NM_000548.5(TSC2):c.1119+6G>C	rs397515305	0.00002
NM_000548.5(TSC2):c.1133C>T (p.Pro378Leu)	rs45517154	0.00002
NM_000548.5(TSC2):c.1257+8C>A	rs767392684	0.00002
NM_000548.5(TSC2):c.1258-5G>T	rs925954967	0.00002
NM_000548.5(TSC2):c.1309G>C (p.Ala437Pro)	rs764967942	0.00002
NM_000548.5(TSC2):c.1458C>T (p.Asn486=)	rs200532154	0.00002
NM_000548.5(TSC2):c.1610G>A (p.Arg537His)	rs372681603	0.00002
NM_000548.5(TSC2):c.1818C>T (p.Ile606=)	rs547389841	0.00002
NM_000548.5(TSC2):c.1842C>G (p.Ala614=)	rs201575136	0.00002
NM_000548.5(TSC2):c.1883G>A (p.Arg628His)	rs774895427	0.00002
NM_000548.5(TSC2):c.1928A>G (p.Tyr643Cys)	rs1319342312	0.00002
NM_000548.5(TSC2):c.1977C>T (p.Thr659=)	rs369065703	0.00002
NM_000548.5(TSC2):c.2027G>T (p.Gly676Val)	rs754556513	0.00002
NM_000548.5(TSC2):c.215A>G (p.Lys72Arg)	rs1489623582	0.00002
NM_000548.5(TSC2):c.2246G>A (p.Arg749Gln)	rs766442736	0.00002
NM_000548.5(TSC2):c.226-13C>T	rs886038353	0.00002
NM_000548.5(TSC2):c.2294C>T (p.Ala765Val)	rs886042145	0.00002
NM_000548.5(TSC2):c.2310G>C (p.Leu770=)	rs772380298	0.00002
NM_000548.5(TSC2):c.2315C>T (p.Ala772Val)	rs397514984	0.00002
NM_000548.5(TSC2):c.2356C>T (p.Arg786Cys)	rs767252128	0.00002
NM_000548.5(TSC2):c.2358C>T (p.Arg786=)	rs372834284	0.00002
NM_000548.5(TSC2):c.2404A>G (p.Ser802Gly)	rs200929621	0.00002
NM_000548.5(TSC2):c.2412C>T (p.Cys804=)	rs763123951	0.00002
NM_000548.5(TSC2):c.2415C>T (p.Val805=)	rs45517235	0.00002
NM_000548.5(TSC2):c.2484G>A (p.Val828=)	rs780395534	0.00002
NM_000548.5(TSC2):c.2585C>T (p.Ala862Val)	rs45517249	0.00002
NM_000548.5(TSC2):c.2607C>T (p.Phe869=)	rs750336814	0.00002
NM_000548.5(TSC2):c.2694C>T (p.Ile898=)	rs200360213	0.00002
NM_000548.5(TSC2):c.2916C>A (p.Ala972=)	rs751474097	0.00002
NM_000548.5(TSC2):c.2948C>G (p.Ser983Cys)	rs759786102	0.00002
NM_000548.5(TSC2):c.2968A>G (p.Arg990Gly)	rs753730009	0.00002
NM_000548.5(TSC2):c.2996G>A (p.Ser999Asn)	rs149808366	0.00002
NM_000548.5(TSC2):c.3028C>G (p.Gln1010Glu)	rs45514100	0.00002
NM_000548.5(TSC2):c.3039T>C (p.Asp1013=)	rs149098424	0.00002
NM_000548.5(TSC2):c.3117G>A (p.Thr1039=)	rs747104674	0.00002
NM_000548.5(TSC2):c.3285-3C>A	rs781023043	0.00002
NM_000548.5(TSC2):c.3293C>T (p.Pro1098Leu)	rs773545852	0.00002
NM_000548.5(TSC2):c.3396G>A (p.Ser1132=)	rs373004429	0.00002
NM_000548.5(TSC2):c.344G>A (p.Arg115His)	rs764529584	0.00002
NM_000548.5(TSC2):c.3485C>T (p.Pro1162Leu)	rs778069675	0.00002
NM_000548.5(TSC2):c.3520C>T (p.Arg1174Trp)	rs529298825	0.00002
NM_000548.5(TSC2):c.3534G>A (p.Gln1178=)	rs201305783	0.00002
NM_000548.5(TSC2):c.354C>G (p.Val118=)	rs762228318	0.00002
NM_000548.5(TSC2):c.3551C>T (p.Ala1184Val)	rs1060500939	0.00002
NM_000548.5(TSC2):c.3610+4C>T	rs201978396	0.00002
NM_000548.5(TSC2):c.3730C>T (p.His1244Tyr)	rs993614997	0.00002
NM_000548.5(TSC2):c.374A>G (p.Lys125Arg)	rs767059758	0.00002
NM_000548.5(TSC2):c.3768G>A (p.Pro1256=)	rs201599540	0.00002
NM_000548.5(TSC2):c.3802C>T (p.Arg1268Cys)	rs1020561347	0.00002
NM_000548.5(TSC2):c.3885C>T (p.Asp1295=)	rs766771526	0.00002
NM_000548.5(TSC2):c.3890C>T (p.Ala1297Val)	rs371239156	0.00002
NM_000548.5(TSC2):c.3928G>A (p.Val1310Met)	rs1046522975	0.00002
NM_000548.5(TSC2):c.3993T>A (p.Asp1331Glu)	rs776049462	0.00002
NM_000548.5(TSC2):c.4057G>A (p.Val1353Ile)	rs373982157	0.00002
NM_000548.5(TSC2):c.408T>G (p.Leu136=)	rs1037058497	0.00002
NM_000548.5(TSC2):c.4097A>C (p.Glu1366Ala)	rs755461310	0.00002
NM_000548.5(TSC2):c.4106G>A (p.Arg1369Gln)	rs587778738	0.00002
NM_000548.5(TSC2):c.411C>T (p.His137=)	rs776129896	0.00002
NM_000548.5(TSC2):c.4137G>A (p.Ser1379=)	rs769653533	0.00002
NM_000548.5(TSC2):c.4155C>G (p.Ser1385=)	rs1057521540	0.00002
NM_000548.5(TSC2):c.4180C>T (p.Leu1394=)	rs911307922	0.00002
NM_000548.5(TSC2):c.4256A>G (p.Gln1419Arg)	rs562443546	0.00002
NM_000548.5(TSC2):c.4286C>T (p.Ala1429Val)	rs757579310	0.00002
NM_000548.5(TSC2):c.4303G>A (p.Glu1435Lys)	rs1441136255	0.00002
NM_000548.5(TSC2):c.4349C>G (p.Pro1450Arg)	rs45517338	0.00002
NM_000548.5(TSC2):c.4436C>T (p.Ala1479Val)	rs397515242	0.00002
NM_000548.5(TSC2):c.4440A>G (p.Leu1480=)	rs756991335	0.00002
NM_000548.5(TSC2):c.4527C>G (p.Phe1509Leu)	rs775919951	0.00002
NM_000548.5(TSC2):c.4552A>G (p.Ile1518Val)	rs764903148	0.00002
NM_000548.5(TSC2):c.4569+6C>T	rs756614796	0.00002
NM_000548.5(TSC2):c.4590G>A (p.Ser1530=)	rs377377367	0.00002
NM_000548.5(TSC2):c.4599C>T (p.Leu1533=)	rs768431568	0.00002
NM_000548.5(TSC2):c.4671C>T (p.Ser1557=)	rs151140709	0.00002
NM_000548.5(TSC2):c.4728G>A (p.Thr1576=)	rs752642825	0.00002
NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn)	rs886051795	0.00002
NM_000548.5(TSC2):c.4906G>A (p.Asp1636Asn)	rs45482398	0.00002
NM_000548.5(TSC2):c.4930G>A (p.Asp1644Asn)	rs137853999	0.00002
NM_000548.5(TSC2):c.4956C>T (p.Asp1652=)	rs1376515823	0.00002
NM_000548.5(TSC2):c.4973A>G (p.Lys1658Arg)	rs1050594534	0.00002
NM_000548.5(TSC2):c.5004T>C (p.Phe1668=)	rs745787082	0.00002
NM_000548.5(TSC2):c.5014A>G (p.Ile1672Val)	rs374066182	0.00002
NM_000548.5(TSC2):c.5064G>A (p.Arg1688=)	rs374476631	0.00002
NM_000548.5(TSC2):c.5112T>A (p.Ser1704=)	rs769158004	0.00002
NM_000548.5(TSC2):c.5160+7G>C	rs45506600	0.00002
NM_000548.5(TSC2):c.5252G>A (p.Arg1751His)	rs373365980	0.00002
NM_000548.5(TSC2):c.5275G>A (p.Ala1759Thr)	rs758450326	0.00002
NM_000548.5(TSC2):c.5279A>G (p.Tyr1760Cys)	rs1261020269	0.00002
NM_000548.5(TSC2):c.5299C>G (p.Leu1767Val)	rs1051758	0.00002
NM_000548.5(TSC2):c.5301G>C (p.Leu1767=)	rs886051798	0.00002
NM_000548.5(TSC2):c.5311C>G (p.Pro1771Ala)	rs777006583	0.00002
NM_000548.5(TSC2):c.623G>A (p.Arg208Gln)	rs368386966	0.00002
NM_000548.5(TSC2):c.721G>A (p.Val241Ile)	rs200943828	0.00002
NM_000548.5(TSC2):c.945G>A (p.Ser315=)	rs763948768	0.00002
NM_000548.5(TSC2):c.975+7C>T	rs372463702	0.00002
NM_000548.5(TSC2):c.993C>T (p.Asn331=)	rs45517153	0.00002
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)	rs113994129	0.00002
NM_000642.3(AGL):c.2682-7T>C	rs375256646	0.00002
NM_000642.3(AGL):c.4422del (p.Ala1475fs)	rs1286364615	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_001039958.2(MESP2):c.561G>A (p.Gly187=)	rs767474985	0.00002
NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter)	rs386833697	0.00002
NM_001042492.3(NF1):c.1223A>G (p.Tyr408Cys)	rs876660344	0.00002
NM_001042492.3(NF1):c.145T>A (p.Tyr49Asn)	rs764367878	0.00002
NM_001042492.3(NF1):c.1472A>G (p.Tyr491Cys)	rs199474757	0.00002
NM_001042492.3(NF1):c.1620G>T (p.Glu540Asp)	rs766748586	0.00002
NM_001042492.3(NF1):c.1901T>C (p.Ile634Thr)	rs527563505	0.00002
NM_001042492.3(NF1):c.1939C>T (p.His647Tyr)	rs776251084	0.00002
NM_001042492.3(NF1):c.1955G>A (p.Arg652His)	rs587778549	0.00002
NM_001042492.3(NF1):c.2023G>A (p.Gly675Arg)	rs779546178	0.00002
NM_001042492.3(NF1):c.2282C>T (p.Ala761Val)	rs746850653	0.00002
NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val)	rs902739109	0.00002
NM_001042492.3(NF1):c.367A>G (p.Thr123Ala)	rs587781757	0.00002
NM_001042492.3(NF1):c.4009C>T (p.Arg1337Trp)	rs146306756	0.00002
NM_001042492.3(NF1):c.4185G>T (p.Gln1395His)	rs775206746	0.00002
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly)	rs587781755	0.00002
NM_001042492.3(NF1):c.4262C>T (p.Pro1421Leu)	rs753997885	0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)	rs137854550	0.00002
NM_001042492.3(NF1):c.4357G>A (p.Val1453Ile)	rs199474755	0.00002
NM_001042492.3(NF1):c.4426C>T (p.Arg1476Cys)	rs771420960	0.00002
NM_001042492.3(NF1):c.4657C>G (p.Pro1553Ala)	rs1033427343	0.00002
NM_001042492.3(NF1):c.512A>G (p.Asn171Ser)	rs767500770	0.00002
NM_001042492.3(NF1):c.5225A>G (p.Asn1742Ser)	rs745407845	0.00002
NM_001042492.3(NF1):c.5263A>G (p.Ile1755Val)	rs370181275	0.00002
NM_001042492.3(NF1):c.5423C>T (p.Thr1808Met)	rs760649828	0.00002
NM_001042492.3(NF1):c.6851C>T (p.Thr2284Ile)	rs747881072	0.00002
NM_001042492.3(NF1):c.7087A>G (p.Ile2363Val)	rs137966859	0.00002
NM_001042492.3(NF1):c.7484C>T (p.Ser2495Phe)	rs757245615	0.00002
NM_001042492.3(NF1):c.7523A>G (p.Tyr2508Cys)	rs762169098	0.00002
NM_001042492.3(NF1):c.7869+6G>A	rs864622318	0.00002
NM_001042492.3(NF1):c.8073T>G (p.His2691Gln)	rs375468032	0.00002
NM_001042492.3(NF1):c.8456G>A (p.Ser2819Asn)	rs934837854	0.00002
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr)	rs200572531	0.00002
NM_001042492.3(NF1):c.8494C>T (p.Arg2832Cys)	rs587782893	0.00002
NM_001099922.3(ALG13):c.2278G>T (p.Ala760Ser)	rs773286994	0.00002
NM_001126108.2(SLC12A3):c.1075A>G (p.Asn359Asp)	rs781030242	0.00002
NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys)	rs775931992	0.00002
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=)	rs746824729	0.00002
NM_001130438.3(SPTAN1):c.6763-6C>A	rs543227930	0.00002
NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile)	rs746532292	0.00002
NM_001148.6(ANK2):c.3927A>G (p.Glu1309=)	rs567570285	0.00002
NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln)	rs754449549	0.00002
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys)	rs1436844070	0.00002
NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=)	rs747338200	0.00002
NM_001365088.1(SLC12A6):c.576C>T (p.Tyr192=)	rs774081365	0.00002
NM_001365088.1(SLC12A6):c.849C>T (p.Tyr283=)	rs753466496	0.00002
NM_001374828.1(ARID1B):c.2615T>C (p.Met872Thr)	rs761093701	0.00002
NM_001918.5(DBT):c.401C>T (p.Pro134Leu)	rs1131691488	0.00002
NM_002485.5(NBN):c.104T>C (p.Ile35Thr)	rs587780773	0.00002
NM_002485.5(NBN):c.1125-3C>T	rs587781326	0.00002
NM_002485.5(NBN):c.1434C>T (p.Cys478=)	rs1060503473	0.00002
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)	rs587782545	0.00002
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn)	rs730881856	0.00002
NM_002485.5(NBN):c.2070+4G>A	rs876660950	0.00002
NM_002485.5(NBN):c.24G>A (p.Ala8=)	rs779543740	0.00002
NM_002485.5(NBN):c.481-4G>A	rs754864893	0.00002
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp)	rs267607054	0.00002
NM_003060.4(SLC22A5):c.522C>T (p.Phe174=)	rs145350949	0.00002
NM_003334.4(UBA1):c.105G>A (p.Ser35=)	rs782781187	0.00002
NM_006432.5(NPC2):c.278G>T (p.Cys93Phe)	rs143960270	0.00002
NM_006516.4(SLC2A1):c.798C>T (p.Pro266=)	rs201996220	0.00002
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser)	rs267606948	0.00002
NM_006939.4(SOS2):c.3547C>T (p.Pro1183Ser)	rs139401491	0.00002
NM_006939.4(SOS2):c.364G>A (p.Val122Met)	rs1208838203	0.00002
NM_006939.4(SOS2):c.3698A>C (p.Asn1233Thr)	rs201756168	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_014363.6(SACS):c.10716C>G (p.Pro3572=)	rs886050077	0.00002
NM_014363.6(SACS):c.6240T>C (p.Val2080=)	rs550680855	0.00002
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)	rs750732115	0.00002
NM_014625.4(NPHS2):c.890C>T (p.Ala297Val)	rs199506378	0.00002
NM_014795.4(ZEB2):c.220G>A (p.Val74Met)	rs767169568	0.00002
NM_014795.4(ZEB2):c.2215A>G (p.Ile739Val)	rs730881178	0.00002
NM_014795.4(ZEB2):c.2300C>T (p.Thr767Ile)	rs755233964	0.00002
NM_015166.4(MLC1):c.544G>A (p.Ala182Thr)	rs537457768	0.00002
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)	rs765822392	0.00002
NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys)	rs202238194	0.00002
NM_017617.5(NOTCH1):c.114A>G (p.Glu38=)	rs375506915	0.00002
NM_017617.5(NOTCH1):c.1250C>T (p.Ser417Leu)	rs757631575	0.00002
NM_017617.5(NOTCH1):c.1357G>A (p.Val453Ile)	rs761629787	0.00002
NM_017617.5(NOTCH1):c.1676C>T (p.Thr559Met)	rs376055493	0.00002
NM_017617.5(NOTCH1):c.1929T>C (p.Asp643=)	rs527323201	0.00002
NM_017617.5(NOTCH1):c.1953C>T (p.Asp651=)	rs752168856	0.00002
NM_017617.5(NOTCH1):c.2297G>T (p.Gly766Val)	rs374434131	0.00002
NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr)	rs200699541	0.00002
NM_017617.5(NOTCH1):c.3171+8C>T	rs985717588	0.00002
NM_017617.5(NOTCH1):c.3701G>A (p.Arg1234Gln)	rs773926521	0.00002
NM_017617.5(NOTCH1):c.4348G>A (p.Glu1450Lys)	rs147841035	0.00002
NM_017617.5(NOTCH1):c.4717A>G (p.Thr1573Ala)	rs762492041	0.00002
NM_017617.5(NOTCH1):c.4746G>A (p.Pro1582=)	rs886038974	0.00002
NM_017617.5(NOTCH1):c.5398G>A (p.Ala1800Thr)	rs569203312	0.00002
NM_017617.5(NOTCH1):c.6054C>T (p.His2018=)	rs202198360	0.00002
NM_017617.5(NOTCH1):c.6083-10T>G	rs1380449680	0.00002
NM_017617.5(NOTCH1):c.6749C>T (p.Ala2250Val)	rs777809068	0.00002
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys)	rs752505638	0.00002
NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp)	rs751007903	0.00002
NM_017617.5(NOTCH1):c.7372C>A (p.Pro2458Thr)	rs752802795	0.00002
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn)	rs763187824	0.00002
NM_017617.5(NOTCH1):c.823G>A (p.Gly275Ser)	rs371333249	0.00002
NM_019032.6(ADAMTSL4):c.2008C>T (p.Arg670Ter)	rs368482584	0.00002
NM_020366.4(RPGRIP1):c.1401A>G (p.Gln467=)	rs184853466	0.00002
NM_020822.3(KCNT1):c.1067G>A (p.Arg356Gln)	rs758152252	0.00002
NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp)	rs532620254	0.00002
NM_020822.3(KCNT1):c.2059G>A (p.Gly687Ser)	rs1156662870	0.00002
NM_020822.3(KCNT1):c.3244C>T (p.Arg1082Cys)	rs776232246	0.00002
NM_022124.6(CDH23):c.1472C>T (p.Thr491Ile)	rs397517307	0.00002
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu)	rs554938323	0.00002
NM_022455.5(NSD1):c.241A>G (p.Met81Val)	rs763781326	0.00002
NM_022455.5(NSD1):c.3286C>T (p.His1096Tyr)	rs202208033	0.00002
NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala)	rs754309202	0.00002
NM_025137.4(SPG11):c.3648G>A (p.Leu1216=)	rs370282739	0.00002
NM_031935.3(HMCN1):c.15561G>T (p.Gly5187=)	rs373603132	0.00002
NM_133433.4(NIPBL):c.5762A>G (p.Asn1921Ser)	rs587783983	0.00002
NM_152296.5(ATP1A3):c.1605C>T (p.Leu535=)	rs148097195	0.00002
NM_152564.5(VPS13B):c.9831G>A (p.Pro3277=)	rs775601813	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_183050.4(BCKDHB):c.732C>T (p.Tyr244=)	rs537988425	0.00002
NM_201253.3(CRB1):c.1084C>T (p.Gln362Ter)	rs778627080	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_206933.4(USH2A):c.10852G>A (p.Gly3618Ser)	rs778158900	0.00002
NM_206933.4(USH2A):c.11048-2A>G	rs200871041	0.00002
NM_206933.4(USH2A):c.12295-2A>G	rs151148854	0.00002
NM_206933.4(USH2A):c.12697_12698del (p.Trp4233fs)	rs764917754	0.00002
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)	rs768161313	0.00002
NM_206933.4(USH2A):c.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.4732C>T (p.Arg1578Cys)	rs201529124	0.00002
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)	rs770329105	0.00002
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly)	rs387906950	0.00001
NM_000017.4(ACADS):c.107dup (p.Thr37fs)	rs750941135	0.00001
NM_000017.4(ACADS):c.326_328del (p.Cys109_Ala110delinsSer)	rs1346829948	0.00001
NM_000017.4(ACADS):c.820G>A (p.Gly274Ser)	rs746368198	0.00001
NM_000018.4(ACADVL):c.1575C>A (p.Val525=)	rs745996278	0.00001
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu)	rs750043368	0.00001
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)	rs545215807	0.00001
NM_000022.4(ADA):c.301C>T (p.Arg101Trp)	rs121908717	0.00001
NM_000022.4(ADA):c.43C>G (p.His15Asp)	rs121908725	0.00001
NM_000022.4(ADA):c.466C>T (p.Arg156Cys)	rs121908735	0.00001
NM_000022.4(ADA):c.467G>A (p.Arg156His)	rs121908722	0.00001
NM_000022.4(ADA):c.58G>A (p.Gly20Arg)	rs121908724	0.00001
NM_000022.4(ADA):c.631C>T (p.Arg211Cys)	rs121908740	0.00001
NM_000022.4(ADA):c.703C>T (p.Arg235Trp)	rs778809577	0.00001
NM_000022.4(ADA):c.845G>A (p.Arg282Gln)	rs751635016	0.00001
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr)	rs759692350	0.00001
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp)	rs757888349	0.00001
NM_000023.4(SGCA):c.313-2A>G	rs1057516650	0.00001
NM_000023.4(SGCA):c.37+6T>C	rs751466815	0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)	rs372210292	0.00001
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg)	rs199810179	0.00001
NM_000023.4(SGCA):c.585-1G>A	rs1342189589	0.00001
NM_000023.4(SGCA):c.600G>A (p.Val200=)	rs764188161	0.00001
NM_000023.4(SGCA):c.700G>A (p.Asp234Asn)	rs760608643	0.00001
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)	rs903823830	0.00001
NM_000027.4(AGA):c.109A>G (p.Lys37Glu)	rs766776902	0.00001
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met)	rs1569541035	0.00001
NM_000033.4(ABCD1):c.1452C>G (p.Pro484=)	rs782546330	0.00001
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)	rs781862879	0.00001
NM_000046.5(ARSB):c.1224C>T (p.Asn408=)	rs762454192	0.00001
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg)	rs746206847	0.00001
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys)	rs779440632	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.541C>A (p.Pro181Thr)	rs786204572	0.00001
NM_000049.4(ASPA):c.634+1G>T	rs753871454	0.00001
NM_000049.4(ASPA):c.637A>G (p.Lys213Glu)	rs528179434	0.00001
NM_000049.4(ASPA):c.807G>A (p.Thr269=)	rs759106494	0.00001
NM_000049.4(ASPA):c.859G>A (p.Ala287Thr)	rs774323189	0.00001
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn)	rs587782506	0.00001
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser)	rs531617441	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.1969A>C (p.Ser657Arg)	rs372436901	0.00001
NM_000053.4(ATP7B):c.2029G>A (p.Glu677Lys)	rs2277447	0.00001
NM_000053.4(ATP7B):c.2108G>A (p.Cys703Tyr)	rs767218895	0.00001
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp)	rs1394999756	0.00001
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs)	rs768729972	0.00001
NM_000053.4(ATP7B):c.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.2355+4A>G	rs776572343	0.00001
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe)	rs751710854	0.00001
NM_000053.4(ATP7B):c.2436T>C (p.Asn812=)	rs533967323	0.00001
NM_000053.4(ATP7B):c.2518C>A (p.Pro840Thr)	rs1017756733	0.00001
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val)	rs121907994	0.00001
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser)	rs28942076	0.00001
NM_000053.4(ATP7B):c.2919G>A (p.Gln973=)	rs537498754	0.00001
NM_000053.4(ATP7B):c.2924C>A (p.Ser975Tyr)	rs778163447	0.00001
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu)	rs201038679	0.00001
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg)	rs751078884	0.00001
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)	rs775055397	0.00001
NM_000053.4(ATP7B):c.3107dup (p.Arg1038fs)	rs886043423	0.00001
NM_000053.4(ATP7B):c.3114G>A (p.Arg1038=)	rs761888880	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.3305T>C (p.Ile1102Thr)	rs560952220	0.00001
NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=)	rs587783314	0.00001
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala)	rs1387431334	0.00001
NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr)	rs755817220	0.00001
NM_000053.4(ATP7B):c.3556+1G>A	rs184388696	0.00001
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)	rs786204547	0.00001
NM_000053.4(ATP7B):c.3557-8C>T	rs765668065	0.00001
NM_000053.4(ATP7B):c.3625C>T (p.Leu1209=)	rs61957448	0.00001
NM_000053.4(ATP7B):c.363C>T (p.Phe121=)	rs370199412	0.00001
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly)	rs374628199	0.00001
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln)	rs767464491	0.00001
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe)	rs769484789	0.00001
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=)	rs375007352	0.00001
NM_000053.4(ATP7B):c.3842G>A (p.Gly1281Asp)	rs755202606	0.00001
NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met)	rs373748155	0.00001
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys)	rs776300396	0.00001
NM_000053.4(ATP7B):c.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.4088C>G (p.Ser1363Cys)	rs776848753	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.562C>T (p.Gln188Ter)	rs1412593296	0.00001
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu)	rs756718353	0.00001
NM_000053.4(ATP7B):c.609C>T (p.Asp203=)	rs781140058	0.00001
NM_000057.4(BLM):c.1674A>T (p.Ile558=)	rs770573584	0.00001
NM_000069.3(CACNA1S):c.1234C>T (p.Arg412Ter)	rs767052156	0.00001
NM_000069.3(CACNA1S):c.143T>C (p.Val48Ala)	rs977298165	0.00001
NM_000069.3(CACNA1S):c.1507G>A (p.Val503Met)	rs140246559	0.00001
NM_000069.3(CACNA1S):c.1827+6C>T	rs202244301	0.00001
NM_000069.3(CACNA1S):c.2245G>A (p.Glu749Lys)	rs1313818230	0.00001
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter)	rs770073633	0.00001
NM_000069.3(CACNA1S):c.2361-3C>T	rs774194599	0.00001
NM_000069.3(CACNA1S):c.2365C>T (p.Arg789Cys)	rs148895719	0.00001
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His)	rs1157720606	0.00001
NM_000069.3(CACNA1S):c.2707C>T (p.Arg903Ter)	rs367983954	0.00001
NM_000069.3(CACNA1S):c.3027G>A (p.Thr1009=)	rs371818752	0.00001
NM_000069.3(CACNA1S):c.3053+19C>G	rs372276351	0.00001
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His)	rs201627041	0.00001
NM_000069.3(CACNA1S):c.4242-10C>G	rs574154912	0.00001
NM_000069.3(CACNA1S):c.4798-2A>G	rs1428157373	0.00001
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter)	rs201998231	0.00001
NM_000069.3(CACNA1S):c.656A>G (p.Lys219Arg)	rs771569004	0.00001
NM_000070.3(CAPN3):c.1062G>A (p.Val354=)	rs776793553	0.00001
NM_000070.3(CAPN3):c.1395G>A (p.Leu465=)	rs760344791	0.00001
NM_000093.5(COL5A1):c.2485-11C>T	rs756350498	0.00001
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr)	rs74315295	0.00001
NM_000098.3(CPT2):c.1493G>A (p.Arg498His)	rs776645157	0.00001
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter)	rs201065226	0.00001
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys)	rs28936674	0.00001
NM_000098.3(CPT2):c.674G>A (p.Arg225His)	rs794727616	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_000117.3(EMD):c.423T>G (p.Ser141=)	rs1209782193	0.00001
NM_000128.4(F11):c.1253G>T (p.Gly418Val)	rs121965071	0.00001
NM_000135.4(FANCA):c.1634G>T (p.Ser545Ile)	rs200922390	0.00001
NM_000137.4(FAH):c.1025C>T (p.Pro342Leu)	rs779040832	0.00001
NM_000152.5(GAA):c.1047C>T (p.Ser349=)	rs138262940	0.00001
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys)	rs372486238	0.00001
NM_000152.5(GAA):c.1192C>T (p.Leu398=)	rs369707231	0.00001
NM_000152.5(GAA):c.1347G>A (p.Ser449=)	rs756938942	0.00001
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)	rs886043148	0.00001
NM_000152.5(GAA):c.1410C>T (p.Asn470=)	rs886043068	0.00001
NM_000152.5(GAA):c.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.1796C>A (p.Ser599Tyr)	rs753505203	0.00001
NM_000152.5(GAA):c.1842G>A (p.Thr614=)	rs373955374	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.2391C>T (p.Ala797=)	rs767494597	0.00001
NM_000152.5(GAA):c.2427C>G (p.Ala809=)	rs766325117	0.00001
NM_000152.5(GAA):c.265C>T (p.Arg89Cys)	rs534192892	0.00001
NM_000152.5(GAA):c.2712G>A (p.Val904=)	rs886043848	0.00001
NM_000152.5(GAA):c.36C>T (p.Leu12=)	rs200548806	0.00001
NM_000152.5(GAA):c.444C>T (p.Tyr148=)	rs886043112	0.00001
NM_000152.5(GAA):c.615G>A (p.Pro205=)	rs141427808	0.00001
NM_000152.5(GAA):c.630C>T (p.Ser210=)	rs775568949	0.00001
NM_000152.5(GAA):c.702G>A (p.Thr234=)	rs755337511	0.00001
NM_000152.5(GAA):c.842G>A (p.Arg281Gln)	rs772607616	0.00001
NM_000152.5(GAA):c.900G>A (p.Ala300=)	rs759425304	0.00001
NM_000152.5(GAA):c.906G>A (p.Glu302=)	rs1488323868	0.00001
NM_000152.5(GAA):c.993G>A (p.Arg331=)	rs749831587	0.00001
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys)	rs797044776	0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser)	rs782449839	0.00001
NM_000169.3(GLA):c.124A>C (p.Met42Leu)	rs797044613	0.00001
NM_000169.3(GLA):c.26A>G (p.His9Arg)	rs1555987214	0.00001
NM_000169.3(GLA):c.596T>C (p.Val199Ala)	rs781871113	0.00001
NM_000169.3(GLA):c.724A>G (p.Ile242Val)	rs397515873	0.00001
NM_000169.3(GLA):c.870G>C (p.Met290Ile)	rs869312438	0.00001
NM_000186.4(CFH):c.524G>C (p.Arg175Pro)	rs139360826	0.00001
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)	rs770225915	0.00001
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr)	rs760106433	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.1262C>T (p.Thr421Met)	rs767649680	0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)	rs104894641	0.00001
NM_000199.5(SGSH):c.1455C>T (p.Gly485=)	rs757563981	0.00001
NM_000199.5(SGSH):c.1A>G (p.Met1Val)	rs1250300189	0.00001
NM_000199.5(SGSH):c.221G>A (p.Arg74His)	rs778336949	0.00001
NM_000199.5(SGSH):c.2T>C (p.Met1Thr)	rs1488660868	0.00001
NM_000199.5(SGSH):c.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.548G>A (p.Cys183Tyr)	rs1329133410	0.00001
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter)	rs886041370	0.00001
NM_000199.5(SGSH):c.681C>A (p.Pro227=)	rs2041774244	0.00001
NM_000199.5(SGSH):c.726C>T (p.Thr242=)	rs1347877363	0.00001
NM_000199.5(SGSH):c.798A>G (p.Thr266=)	rs199562202	0.00001
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn)	rs1046551417	0.00001
NM_000199.5(SGSH):c.88+8C>T	rs75720127	0.00001
NM_000199.5(SGSH):c.942C>T (p.Ser314=)	rs759810426	0.00001
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg)	rs398123246	0.00001
NM_000202.8(IDS):c.934G>A (p.Gly312Ser)	rs903259179	0.00001
NM_000231.3(SGCG):c.101G>A (p.Arg34His)	rs755404457	0.00001
NM_000231.3(SGCG):c.267A>G (p.Pro89=)	rs149595403	0.00001
NM_000243.3(MEFV):c.1091C>T (p.Pro364Leu)	rs104895214	0.00001
NM_000243.3(MEFV):c.1401G>A (p.Glu467=)	rs1398639205	0.00001
NM_000243.3(MEFV):c.1485G>A (p.Arg495=)	rs1012455878	0.00001
NM_000243.3(MEFV):c.149C>T (p.Pro50Leu)	rs144716190	0.00001
NM_000243.3(MEFV):c.1501C>T (p.Arg501Cys)	rs104895101	0.00001
NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn)	rs550970304	0.00001
NM_000243.3(MEFV):c.1899G>A (p.Pro633=)	rs776315170	0.00001
NM_000243.3(MEFV):c.2078T>C (p.Met693Thr)	rs749052818	0.00001
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met)	rs104895102	0.00001
NM_000243.3(MEFV):c.2169C>T (p.Asp723=)	rs104895117	0.00001
NM_000243.3(MEFV):c.2271C>T (p.Ser757=)	rs772754956	0.00001
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val)	rs104895163	0.00001
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)	rs104895154	0.00001
NM_000243.3(MEFV):c.422G>T (p.Ser141Ile)	rs104895130	0.00001
NM_000243.3(MEFV):c.426G>C (p.Leu142=)	rs1465332482	0.00001
NM_000243.3(MEFV):c.443A>T (p.Glu148Val)	rs104895076	0.00001
NM_000243.3(MEFV):c.48G>A (p.Leu16=)	rs777381107	0.00001
NM_000243.3(MEFV):c.540G>C (p.Pro180=)	rs104895139	0.00001
NM_000243.3(MEFV):c.786T>C (p.Thr262=)	rs575521131	0.00001
NM_000243.3(MEFV):c.933G>A (p.Ala311=)	rs774547197	0.00001
NM_000243.3(MEFV):c.985C>T (p.Arg329Cys)	rs757216434	0.00001
NM_000255.4(MMUT):c.422C>T (p.Ala141Val)	rs565348836	0.00001
NM_000260.4(MYO7A):c.1669A>G (p.Ile557Val)	rs1282033456	0.00001
NM_000268.4(NF2):c.1007G>A (p.Arg336Gln)	rs587778554	0.00001
NM_000268.4(NF2):c.1232G>A (p.Arg411His)	rs201214090	0.00001
NM_000268.4(NF2):c.1253G>A (p.Arg418His)	rs548217466	0.00001
NM_000268.4(NF2):c.1271G>A (p.Arg424His)	rs751182657	0.00001
NM_000268.4(NF2):c.1397G>A (p.Arg466Gln)	rs866689896	0.00001
NM_000268.4(NF2):c.1445C>T (p.Pro482Leu)	rs766339217	0.00001
NM_000268.4(NF2):c.1446+5G>A	rs367829184	0.00001
NM_000268.4(NF2):c.1469C>T (p.Pro490Leu)	rs765100922	0.00001
NM_000268.4(NF2):c.1502T>C (p.Ile501Thr)	rs767682136	0.00001
NM_000268.4(NF2):c.1522G>A (p.Asp508Asn)	rs749326764	0.00001
NM_000268.4(NF2):c.1547G>A (p.Arg516Gln)	rs1569309694	0.00001
NM_000268.4(NF2):c.1586T>C (p.Met529Thr)	rs780818183	0.00001
NM_000268.4(NF2):c.1688A>G (p.Asn563Ser)	rs768303416	0.00001
NM_000268.4(NF2):c.1701C>G (p.Asp567Glu)	rs1049732514	0.00001
NM_000268.4(NF2):c.1752C>T (p.Ser584=)	rs370999558	0.00001
NM_000268.4(NF2):c.1765G>A (p.Val589Met)	rs1293851600	0.00001
NM_000268.4(NF2):c.215T>C (p.Val72Ala)	rs1260510937	0.00001
NM_000268.4(NF2):c.296A>G (p.Lys99Arg)	rs181794923	0.00001
NM_000268.4(NF2):c.347A>G (p.His116Arg)	rs371373672	0.00001
NM_000268.4(NF2):c.595G>A (p.Ala199Thr)	rs1261707371	0.00001
NM_000268.4(NF2):c.685G>T (p.Gly229Cys)	rs1028670573	0.00001
NM_000268.4(NF2):c.713C>T (p.Ala238Val)	rs761195572	0.00001
NM_000268.4(NF2):c.872G>A (p.Arg291His)	rs755200117	0.00001
NM_000268.4(NF2):c.903C>T (p.Ile301=)	rs199957176	0.00001
NM_000277.3(PAH):c.505C>T (p.Arg169Cys)	rs281865440	0.00001
NM_000277.3(PAH):c.786C>T (p.Val262=)	rs776860902	0.00001
NM_000317.3(PTS):c.146A>G (p.His49Arg)	rs750229518	0.00001
NM_000317.3(PTS):c.186+1G>T	rs1256819927	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_000318.3(PEX2):c.666A>G (p.Ser222=)	rs1806901488	0.00001
NM_000359.3(TGM1):c.1186C>T (p.Arg396Cys)	rs543521135	0.00001
NM_000359.3(TGM1):c.1417G>A (p.Gly473Ser)	rs904122716	0.00001
NM_000359.3(TGM1):c.1645+1G>T	rs774242987	0.00001
NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter)	rs397514522	0.00001
NM_000359.3(TGM1):c.184G>T (p.Gly62Ter)	rs886041950	0.00001
NM_000359.3(TGM1):c.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.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_000368.5(TSC1):c.1002G>A (p.Ser334=)	rs200820603	0.00001
NM_000368.5(TSC1):c.1038T>C (p.Leu346=)	rs753360364	0.00001
NM_000368.5(TSC1):c.1050T>C (p.Ser350=)	rs150777389	0.00001
NM_000368.5(TSC1):c.1054G>A (p.Val352Ile)	rs796053447	0.00001
NM_000368.5(TSC1):c.1058G>A (p.Cys353Tyr)	rs876660024	0.00001
NM_000368.5(TSC1):c.1078A>C (p.Thr360Pro)	rs201738258	0.00001
NM_000368.5(TSC1):c.1078A>G (p.Thr360Ala)	rs201738258	0.00001
NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser)	rs397514864	0.00001
NM_000368.5(TSC1):c.1097C>T (p.Pro366Leu)	rs763915012	0.00001
NM_000368.5(TSC1):c.1099C>G (p.Pro367Ala)	rs1412914051	0.00001
NM_000368.5(TSC1):c.109C>T (p.Arg37Cys)	rs1309560054	0.00001
NM_000368.5(TSC1):c.1116T>C (p.Pro372=)	rs1311647964	0.00001
NM_000368.5(TSC1):c.1139C>G (p.Thr380Ser)	rs1064796512	0.00001
NM_000368.5(TSC1):c.1191A>G (p.Pro397=)	rs370281825	0.00001
NM_000368.5(TSC1):c.1200C>G (p.Leu400=)	rs767514820	0.00001
NM_000368.5(TSC1):c.1217A>G (p.Tyr406Cys)	rs143502728	0.00001
NM_000368.5(TSC1):c.1219G>A (p.Val407Met)	rs769331772	0.00001
NM_000368.5(TSC1):c.121C>T (p.Leu41Phe)	rs118203334	0.00001
NM_000368.5(TSC1):c.1238A>G (p.Gln413Arg)	rs1060503218	0.00001
NM_000368.5(TSC1):c.1248C>T (p.Val416=)	rs777823426	0.00001
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile)	rs77464996	0.00001
NM_000368.5(TSC1):c.1257C>G (p.Pro419=)	rs369642207	0.00001
NM_000368.5(TSC1):c.1263+6_1263+8dup	rs751182565	0.00001
NM_000368.5(TSC1):c.1315C>G (p.Leu439Val)	rs199800297	0.00001
NM_000368.5(TSC1):c.133T>C (p.Leu45=)	rs755226092	0.00001
NM_000368.5(TSC1):c.1355G>C (p.Gly452Ala)	rs371093730	0.00001
NM_000368.5(TSC1):c.135G>A (p.Leu45=)	rs149278759	0.00001
NM_000368.5(TSC1):c.1369A>C (p.Ser457Arg)	rs587778722	0.00001
NM_000368.5(TSC1):c.153A>C (p.Glu51Asp)	rs118203342	0.00001
NM_000368.5(TSC1):c.1550G>A (p.Arg517Gln)	rs371908551	0.00001
NM_000368.5(TSC1):c.1562C>T (p.Ser521Leu)	rs759379027	0.00001
NM_000368.5(TSC1):c.1571C>T (p.Ser524Phe)	rs1276296733	0.00001
NM_000368.5(TSC1):c.1580A>G (p.Gln527Arg)	rs767708806	0.00001
NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr)	rs368481360	0.00001
NM_000368.5(TSC1):c.1591G>A (p.Val531Met)	rs377279170	0.00001
NM_000368.5(TSC1):c.1596C>T (p.Asn532=)	rs759461471	0.00001
NM_000368.5(TSC1):c.1674C>T (p.Pro558=)	rs878853962	0.00001
NM_000368.5(TSC1):c.168G>A (p.Pro56=)	rs781483110	0.00001
NM_000368.5(TSC1):c.1775C>T (p.Thr592Met)	rs775869914	0.00001
NM_000368.5(TSC1):c.1776G>A (p.Thr592=)	rs118203580	0.00001
NM_000368.5(TSC1):c.1779A>G (p.Arg593=)	rs964191879	0.00001
NM_000368.5(TSC1):c.1794C>T (p.Ser598=)	rs766438395	0.00001
NM_000368.5(TSC1):c.1795G>A (p.Gly599Arg)	rs761959210	0.00001
NM_000368.5(TSC1):c.1800G>C (p.Gln600His)	rs1254353359	0.00001
NM_000368.5(TSC1):c.1802C>T (p.Pro601Leu)	rs543077026	0.00001
NM_000368.5(TSC1):c.1809G>A (p.Pro603=)	rs112434645	0.00001
NM_000368.5(TSC1):c.1811A>G (p.Tyr604Cys)	rs1057522817	0.00001
NM_000368.5(TSC1):c.181C>T (p.Leu61=)	rs752047592	0.00001
NM_000368.5(TSC1):c.1869G>A (p.Lys623=)	rs778556382	0.00001
NM_000368.5(TSC1):c.1871C>T (p.Thr624Ile)	rs754401816	0.00001
NM_000368.5(TSC1):c.1882T>C (p.Leu628=)	rs375534013	0.00001
NM_000368.5(TSC1):c.1927A>G (p.Thr643Ala)	rs1485955306	0.00001
NM_000368.5(TSC1):c.1943T>C (p.Val648Ala)	rs771341361	0.00001
NM_000368.5(TSC1):c.1975G>A (p.Ala659Thr)	rs914628341	0.00001
NM_000368.5(TSC1):c.1997A>G (p.Lys666Arg)	rs1419720341	0.00001
NM_000368.5(TSC1):c.2026T>A (p.Trp676Arg)	rs748901883	0.00001
NM_000368.5(TSC1):c.2033A>T (p.His678Leu)	rs745413532	0.00001
NM_000368.5(TSC1):c.2064C>T (p.Ile688=)	rs878853963	0.00001
NM_000368.5(TSC1):c.2066G>A (p.Arg689His)	rs200827913	0.00001
NM_000368.5(TSC1):c.2085G>A (p.Leu695=)	rs767518902	0.00001
NM_000368.5(TSC1):c.2195A>G (p.His732Arg)	rs878853964	0.00001
NM_000368.5(TSC1):c.2196T>C (p.His732=)	rs776441369	0.00001
NM_000368.5(TSC1):c.2268A>G (p.Lys756=)	rs760004541	0.00001
NM_000368.5(TSC1):c.2281T>C (p.Tyr761His)	rs776386313	0.00001
NM_000368.5(TSC1):c.2307C>T (p.Asp769=)	rs876658671	0.00001
NM_000368.5(TSC1):c.2312T>C (p.Met771Thr)	rs760208449	0.00001
NM_000368.5(TSC1):c.2375A>G (p.Gln792Arg)	rs796053460	0.00001
NM_000368.5(TSC1):c.23G>C (p.Gly8Ala)	rs1269896419	0.00001
NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln)	rs761281095	0.00001
NM_000368.5(TSC1):c.2434A>G (p.Ile812Val)	rs751128287	0.00001
NM_000368.5(TSC1):c.2485A>C (p.Ser829Arg)	rs118203699	0.00001
NM_000368.5(TSC1):c.2520G>A (p.Ser840=)	rs547498792	0.00001
NM_000368.5(TSC1):c.2556G>C (p.Leu852=)	rs770381040	0.00001
NM_000368.5(TSC1):c.2577C>T (p.Asn859=)	rs781553258	0.00001
NM_000368.5(TSC1):c.2604C>T (p.Asn868=)	rs147163264	0.00001
NM_000368.5(TSC1):c.2614G>C (p.Asp872His)	rs746607455	0.00001
NM_000368.5(TSC1):c.2658A>G (p.Lys886=)	rs368212910	0.00001
NM_000368.5(TSC1):c.2722C>T (p.Arg908Trp)	rs748845915	0.00001
NM_000368.5(TSC1):c.2766T>G (p.Leu922=)	rs546119844	0.00001
NM_000368.5(TSC1):c.2830G>A (p.Ala944Thr)	rs751362258	0.00001
NM_000368.5(TSC1):c.287T>C (p.Val96Ala)	rs370243092	0.00001
NM_000368.5(TSC1):c.2893T>A (p.Leu965Ile)	rs1060503217	0.00001
NM_000368.5(TSC1):c.2896T>C (p.Tyr966His)	rs767946427	0.00001
NM_000368.5(TSC1):c.289A>G (p.Ile97Val)	rs138541569	0.00001
NM_000368.5(TSC1):c.28C>T (p.Leu10Phe)	rs1399717425	0.00001
NM_000368.5(TSC1):c.2926A>G (p.Lys976Glu)	rs796053448	0.00001
NM_000368.5(TSC1):c.2932C>G (p.Leu978Val)	rs397514859	0.00001
NM_000368.5(TSC1):c.2964A>G (p.Ala988=)	rs1057520482	0.00001
NM_000368.5(TSC1):c.2982C>T (p.Asp994=)	rs199919348	0.00001
NM_000368.5(TSC1):c.2994C>T (p.Asp998=)	rs923543734	0.00001
NM_000368.5(TSC1):c.2995G>A (p.Gly999Arg)	rs780224196	0.00001
NM_000368.5(TSC1):c.3016G>C (p.Gly1006Arg)	rs1242948205	0.00001
NM_000368.5(TSC1):c.3019C>T (p.His1007Tyr)	rs764738792	0.00001
NM_000368.5(TSC1):c.3023A>G (p.Asn1008Ser)	rs1263094349	0.00001
NM_000368.5(TSC1):c.3032C>A (p.Ala1011Glu)	rs796053449	0.00001
NM_000368.5(TSC1):c.3059C>T (p.Thr1020Ile)	rs1060503214	0.00001
NM_000368.5(TSC1):c.3076G>A (p.Ala1026Thr)	rs533565295	0.00001
NM_000368.5(TSC1):c.3079C>T (p.Arg1027Trp)	rs375394001	0.00001
NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys)	rs796053462	0.00001
NM_000368.5(TSC1):c.3140C>T (p.Thr1047Ile)	rs587778726	0.00001
NM_000368.5(TSC1):c.3177C>G (p.Phe1059Leu)	rs753263747	0.00001
NM_000368.5(TSC1):c.3185G>A (p.Arg1062Gln)	rs755396992	0.00001
NM_000368.5(TSC1):c.3194C>T (p.Thr1065Met)	rs753388676	0.00001
NM_000368.5(TSC1):c.3200T>G (p.Met1067Arg)	rs1167362899	0.00001
NM_000368.5(TSC1):c.3207A>G (p.Glu1069=)	rs878853966	0.00001
NM_000368.5(TSC1):c.3228C>T (p.Thr1076=)	rs140622357	0.00001
NM_000368.5(TSC1):c.3268A>G (p.Met1090Val)	rs776694051	0.00001
NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln)	rs550526986	0.00001
NM_000368.5(TSC1):c.3289C>T (p.Arg1097Cys)	rs779599439	0.00001
NM_000368.5(TSC1):c.3290G>A (p.Arg1097His)	rs118203750	0.00001
NM_000368.5(TSC1):c.3296A>G (p.Lys1099Arg)	rs876660132	0.00001
NM_000368.5(TSC1):c.3300C>T (p.Ser1100=)	rs754282309	0.00001
NM_000368.5(TSC1):c.331C>T (p.Pro111Ser)	rs748669519	0.00001
NM_000368.5(TSC1):c.3321C>T (p.Asp1107=)	rs118203752	0.00001
NM_000368.5(TSC1):c.3322G>A (p.Gly1108Ser)	rs118203753	0.00001
NM_000368.5(TSC1):c.3350T>C (p.Leu1117Pro)	rs762641110	0.00001
NM_000368.5(TSC1):c.3356C>T (p.Thr1119Ile)	rs775420987	0.00001
NM_000368.5(TSC1):c.3373T>C (p.Leu1125=)	rs1157060310	0.00001
NM_000368.5(TSC1):c.3381G>A (p.Val1127=)	rs773586317	0.00001
NM_000368.5(TSC1):c.3386C>T (p.Ala1129Val)	rs772233665	0.00001
NM_000368.5(TSC1):c.3405A>G (p.Leu1135=)	rs568004490	0.00001
NM_000368.5(TSC1):c.3408T>A (p.Asp1136Glu)	rs751398082	0.00001
NM_000368.5(TSC1):c.3416A>C (p.His1139Pro)	rs764018144	0.00001
NM_000368.5(TSC1):c.3419C>T (p.Pro1140Leu)	rs751126355	0.00001
NM_000368.5(TSC1):c.3420G>A (p.Pro1140=)	rs763931959	0.00001
NM_000368.5(TSC1):c.3433C>G (p.Pro1145Ala)	rs773541137	0.00001
NM_000368.5(TSC1):c.3434C>T (p.Pro1145Leu)	rs767904247	0.00001
NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr)	rs397514806	0.00001
NM_000368.5(TSC1):c.3455A>G (p.His1152Arg)	rs1554812543	0.00001
NM_000368.5(TSC1):c.375C>T (p.Asp125=)	rs560863078	0.00001
NM_000368.5(TSC1):c.376G>A (p.Val126Ile)	rs397514843	0.00001
NM_000368.5(TSC1):c.38T>C (p.Met13Thr)	rs1041071543	0.00001
NM_000368.5(TSC1):c.391A>G (p.Thr131Ala)	rs1564499857	0.00001
NM_000368.5(TSC1):c.395G>C (p.Gly132Ala)	rs397514784	0.00001
NM_000368.5(TSC1):c.397G>A (p.Val133Ile)	rs118203381	0.00001
NM_000368.5(TSC1):c.45C>T (p.Asp15=)	rs1457262106	0.00001
NM_000368.5(TSC1):c.514G>A (p.Val172Met)	rs952813051	0.00001
NM_000368.5(TSC1):c.518C>T (p.Ala173Val)	rs777484049	0.00001
NM_000368.5(TSC1):c.519G>A (p.Ala173=)	rs768999400	0.00001
NM_000368.5(TSC1):c.51C>G (p.Pro17=)	rs768175095	0.00001
NM_000368.5(TSC1):c.524T>C (p.Val175Ala)	rs1415895533	0.00001
NM_000368.5(TSC1):c.527A>G (p.Tyr176Cys)	rs1060503209	0.00001
NM_000368.5(TSC1):c.555C>T (p.Tyr185=)	rs118203398	0.00001
NM_000368.5(TSC1):c.598G>A (p.Val200Ile)	rs118203410	0.00001
NM_000368.5(TSC1):c.61G>T (p.Val21Leu)	rs1392596033	0.00001
NM_000368.5(TSC1):c.64C>T (p.Arg22Trp)	rs749030456	0.00001
NM_000368.5(TSC1):c.651A>G (p.Glu217=)	rs766250769	0.00001
NM_000368.5(TSC1):c.670A>T (p.Met224Leu)	rs535397245	0.00001
NM_000368.5(TSC1):c.72C>T (p.Asp24=)	rs376527838	0.00001
NM_000368.5(TSC1):c.738-10C>A	rs768158324	0.00001
NM_000368.5(TSC1):c.772G>A (p.Glu258Lys)	rs118203450	0.00001
NM_000368.5(TSC1):c.782A>G (p.Lys261Arg)	rs371225009	0.00001
NM_000368.5(TSC1):c.809C>T (p.Ser270Leu)	rs878853968	0.00001
NM_000368.5(TSC1):c.826T>C (p.Ser276Pro)	rs774009225	0.00001
NM_000368.5(TSC1):c.862C>T (p.Arg288Cys)	rs770653972	0.00001
NM_000368.5(TSC1):c.898A>G (p.Thr300Ala)	rs796053456	0.00001
NM_000368.5(TSC1):c.899C>T (p.Thr300Ile)	rs370916731	0.00001
NM_000368.5(TSC1):c.946C>T (p.Arg316Trp)	rs535868591	0.00001
NM_000368.5(TSC1):c.947G>A (p.Arg316Gln)	rs375956049	0.00001
NM_000368.5(TSC1):c.997C>T (p.Pro333Ser)	rs1057520994	0.00001
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter)	rs1013801316	0.00001
NM_000372.5(TYR):c.116G>A (p.Trp39Ter)	rs775683960	0.00001
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser)	rs104894316	0.00001
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg)	rs61754392	0.00001
NM_000372.5(TYR):c.1501dup (p.Arg501fs)	rs281865328	0.00001
NM_000372.5(TYR):c.616G>A (p.Ala206Thr)	rs28940880	0.00001
NM_000372.5(TYR):c.707G>A (p.Trp236Ter)	rs61754367	0.00001
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln)	rs765380155	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.926T>C (p.Leu309Pro)	rs29001685	0.00001
NM_000410.4(HFE):c.211C>T (p.Arg71Ter)	rs759524388	0.00001
NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=)	rs727504993	0.00001
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)	rs786204474	0.00001
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr)	rs201562855	0.00001
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys)	rs147952620	0.00001
NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg)	rs142498437	0.00001
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter)	rs397516416	0.00001
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser)	rs786204739	0.00001
NM_000441.2(SLC26A4):c.1615-2A>G	rs758823761	0.00001
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)	rs200455203	0.00001
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter)	rs752807925	0.00001
NM_000441.2(SLC26A4):c.2319+1G>A	rs542079779	0.00001
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile)	rs786204426	0.00001
NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile)	rs1481765326	0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)	rs111033348	0.00001
NM_000441.2(SLC26A4):c.678T>C (p.Ala226=)	rs773602319	0.00001
NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter)	rs397516430	0.00001
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg)	rs539699299	0.00001
NM_000441.2(SLC26A4):c.916dup (p.Val306fs)	rs768245266	0.00001
NM_000441.2(SLC26A4):c.918+2T>C	rs912147281	0.00001
NM_000455.5(STK11):c.*4del	rs1235043828	0.00001
NM_000455.5(STK11):c.1012G>A (p.Val338Met)	rs587782302	0.00001
NM_000455.5(STK11):c.1016C>T (p.Pro339Leu)	rs567896256	0.00001
NM_000455.5(STK11):c.1036G>A (p.Gly346Ser)	rs375431906	0.00001
NM_000455.5(STK11):c.1040C>T (p.Ala347Val)	rs587782058	0.00001
NM_000455.5(STK11):c.1071G>T (p.Glu357Asp)	rs556651007	0.00001
NM_000455.5(STK11):c.1072G>A (p.Asp358Asn)	rs587778696	0.00001
NM_000455.5(STK11):c.1101G>A (p.Thr367=)	rs750954647	0.00001
NM_000455.5(STK11):c.1128G>A (p.Glu376=)	rs747018506	0.00001
NM_000455.5(STK11):c.1139A>G (p.Asn380Ser)	rs1247102370	0.00001
NM_000455.5(STK11):c.1145A>G (p.Gln382Arg)	rs985937027	0.00001
NM_000455.5(STK11):c.1147C>T (p.Arg383Cys)	rs535449626	0.00001
NM_000455.5(STK11):c.1148G>A (p.Arg383His)	rs730881990	0.00001
NM_000455.5(STK11):c.1150C>T (p.Arg384Trp)	rs752015385	0.00001
NM_000455.5(STK11):c.1151G>A (p.Arg384Gln)	rs371102112	0.00001
NM_000455.5(STK11):c.1167C>G (p.Ala389=)	rs547919101	0.00001
NM_000455.5(STK11):c.116G>T (p.Arg39Leu)	rs786203250	0.00001
NM_000455.5(STK11):c.1174A>G (p.Met392Val)	rs565993396	0.00001
NM_000455.5(STK11):c.1182C>T (p.Gly394=)	rs376679847	0.00001
NM_000455.5(STK11):c.1189G>T (p.Ala397Ser)	rs587780008	0.00001
NM_000455.5(STK11):c.1190C>T (p.Ala397Val)	rs558040549	0.00001
NM_000455.5(STK11):c.1195C>A (p.Gln399Lys)	rs1060499968	0.00001
NM_000455.5(STK11):c.1208A>G (p.Lys403Arg)	rs587781633	0.00001
NM_000455.5(STK11):c.1217C>T (p.Ala406Val)	rs748202003	0.00001
NM_000455.5(STK11):c.1222G>A (p.Gly408Ser)	rs749463771	0.00001
NM_000455.5(STK11):c.1231C>G (p.Pro411Ala)	rs772527201	0.00001
NM_000455.5(STK11):c.1235A>G (p.Asn412Ser)	rs786201309	0.00001
NM_000455.5(STK11):c.1245C>T (p.Arg415=)	rs878853985	0.00001
NM_000455.5(STK11):c.1247A>G (p.Lys416Arg)	rs1446554442	0.00001
NM_000455.5(STK11):c.1249G>T (p.Ala417Ser)	rs587782876	0.00001
NM_000455.5(STK11):c.1251C>T (p.Ala417=)	rs1060503786	0.00001
NM_000455.5(STK11):c.1256C>T (p.Ser419Phe)	rs764639416	0.00001
NM_000455.5(STK11):c.1259C>T (p.Ala420Val)	rs369033659	0.00001
NM_000455.5(STK11):c.1274G>A (p.Arg425His)	rs730881992	0.00001
NM_000455.5(STK11):c.1276C>T (p.Arg426Trp)	rs587782687	0.00001
NM_000455.5(STK11):c.1283C>T (p.Ser428Leu)	rs587781537	0.00001
NM_000455.5(STK11):c.151A>C (p.Met51Leu)	rs730881986	0.00001
NM_000455.5(STK11):c.301C>G (p.Leu101Val)	rs587780716	0.00001
NM_000455.5(STK11):c.310A>T (p.Arg104Trp)	rs587782783	0.00001
NM_000455.5(STK11):c.317G>A (p.Arg106Gln)	rs375622587	0.00001
NM_000455.5(STK11):c.327T>C (p.Asn109=)	rs749251218	0.00001
NM_000455.5(STK11):c.348G>T (p.Val116=)	rs774482643	0.00001
NM_000455.5(STK11):c.427G>A (p.Val143Met)	rs779987540	0.00001
NM_000455.5(STK11):c.434A>G (p.Glu145Gly)	rs369764220	0.00001
NM_000455.5(STK11):c.440G>A (p.Arg147His)	rs587780717	0.00001
NM_000455.5(STK11):c.447A>G (p.Pro149=)	rs587780718	0.00001
NM_000455.5(STK11):c.449T>C (p.Val150Ala)	rs587781802	0.00001
NM_000455.5(STK11):c.45C>T (p.Gly15=)	rs786201234	0.00001
NM_000455.5(STK11):c.464+15C>T	rs1057521355	0.00001
NM_000455.5(STK11):c.464+3G>A	rs1060499956	0.00001
NM_000455.5(STK11):c.464+4C>T	rs373167735	0.00001
NM_000455.5(STK11):c.465-10C>G	rs1060503780	0.00001
NM_000455.5(STK11):c.465-17G>A	rs761361803	0.00001
NM_000455.5(STK11):c.465-8G>A	rs878853990	0.00001
NM_000455.5(STK11):c.559G>A (p.Gly187Ser)	rs587782032	0.00001
NM_000455.5(STK11):c.577T>G (p.Ser193Ala)	rs1064794883	0.00001
NM_000455.5(STK11):c.579C>T (p.Ser193=)	rs730881961	0.00001
NM_000455.5(STK11):c.594C>T (p.Ala198=)	rs772940660	0.00001
NM_000455.5(STK11):c.5A>C (p.Glu2Ala)	rs1159551738	0.00001
NM_000455.5(STK11):c.614C>T (p.Ala205Val)	rs587782468	0.00001
NM_000455.5(STK11):c.617C>T (p.Ala206Val)	rs764244639	0.00001
NM_000455.5(STK11):c.632G>A (p.Arg211Gln)	rs730881982	0.00001
NM_000455.5(STK11):c.662C>T (p.Pro221Leu)	rs1167609100	0.00001
NM_000455.5(STK11):c.696C>T (p.Ser232=)	rs566823619	0.00001
NM_000455.5(STK11):c.69C>T (p.Asp23=)	rs1599914867	0.00001
NM_000455.5(STK11):c.71C>T (p.Thr24Met)	rs770503805	0.00001
NM_000455.5(STK11):c.750G>A (p.Thr250=)	rs748112446	0.00001
NM_000455.5(STK11):c.765C>T (p.Phe255=)	rs769912677	0.00001
NM_000455.5(STK11):c.817G>A (p.Ala273Thr)	rs587782199	0.00001
NM_000455.5(STK11):c.837C>T (p.Gly279=)	rs373021819	0.00001
NM_000455.5(STK11):c.841C>A (p.Pro281Thr)	rs377208033	0.00001
NM_000455.5(STK11):c.846C>G (p.Leu282=)	rs777872290	0.00001
NM_000455.5(STK11):c.84C>T (p.Arg28=)	rs778468876	0.00001
NM_000455.5(STK11):c.882G>A (p.Pro294=)	rs587781178	0.00001
NM_000455.5(STK11):c.897C>T (p.Ser299=)	rs769013935	0.00001
NM_000455.5(STK11):c.902G>A (p.Arg301Gln)	rs370222210	0.00001
NM_000455.5(STK11):c.921-9C>T	rs761688641	0.00001
NM_000455.5(STK11):c.947C>G (p.Ala316Gly)	rs751709130	0.00001
NM_000455.5(STK11):c.94A>G (p.Thr32Ala)	rs755210880	0.00001
NM_000455.5(STK11):c.957A>G (p.Pro319=)	rs755126393	0.00001
NM_000455.5(STK11):c.976C>A (p.Pro326Thr)	rs771632414	0.00001
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp)	rs866184460	0.00001
NM_000487.6(ARSA):c.279C>T (p.Val93=)	rs756760904	0.00001
NM_000487.6(ARSA):c.891C>T (p.Ser297=)	rs770536697	0.00001
NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg)	rs397508154	0.00001
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser)	rs397508187	0.00001
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr)	rs397508191	0.00001
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn)	rs758900656	0.00001
NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu)	rs387906368	0.00001
NM_000492.4(CFTR):c.1630G>A (p.Gly544Ser)	rs762224063	0.00001
NM_000492.4(CFTR):c.164+12T>C	rs121908790	0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr)	rs773569201	0.00001
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile)	rs397508293	0.00001
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)	rs201124247	0.00001
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe)	rs186089140	0.00001
NM_000492.4(CFTR):c.2255T>G (p.Ile752Ser)	rs766541549	0.00001
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly)	rs397508375	0.00001
NM_000492.4(CFTR):c.2526A>G (p.Ala842=)	rs758128209	0.00001
NM_000492.4(CFTR):c.2679G>T (p.Gly893=)	rs397508419	0.00001
NM_000492.4(CFTR):c.273+4A>G	rs387906374	0.00001
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly)	rs397508436	0.00001
NM_000492.4(CFTR):c.3158C>T (p.Thr1053Ile)	rs140883683	0.00001
NM_000492.4(CFTR):c.3368-20C>T	rs761144879	0.00001
NM_000492.4(CFTR):c.3672T>A (p.Asn1224Lys)	rs371475225	0.00001
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro)	rs397508674	0.00001
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys)	rs397508699	0.00001
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu)	rs397508731	0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val)	rs397508763	0.00001
NM_000492.4(CFTR):c.725G>A (p.Arg242Lys)	rs758012554	0.00001
NM_000492.4(CFTR):c.744-6T>G	rs878854022	0.00001
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr)	rs397508804	0.00001
NM_000492.4(CFTR):c.869+5G>A	rs533959068	0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)	rs75763344	0.00001
NM_000492.4(CFTR):c.94C>A (p.Leu32Met)	rs776797377	0.00001
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser)	rs749891007	0.00001
NM_000512.5(GALNS):c.1164C>A (p.Asp388Glu)	rs752339162	0.00001
NM_000512.5(GALNS):c.1219A>C (p.Asn407His)	rs749578474	0.00001
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg)	rs199638097	0.00001
NM_000512.5(GALNS):c.1480A>G (p.Met494Val)	rs1401175486	0.00001
NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr)	rs1404888504	0.00001
NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg)	rs398123434	0.00001
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg)	rs1478665723	0.00001
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys)	rs118204441	0.00001
NM_000512.5(GALNS):c.281G>A (p.Arg94His)	rs727503946	0.00001
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg)	rs398123438	0.00001
NM_000512.5(GALNS):c.498C>G (p.His166Gln)	rs1301198698	0.00001
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg)	rs775732598	0.00001
NM_000512.5(GALNS):c.602G>A (p.Gly201Glu)	rs772413313	0.00001
NM_000512.5(GALNS):c.641T>C (p.Leu214Pro)	rs771810111	0.00001
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn)	rs753051547	0.00001
NM_000512.5(GALNS):c.719A>G (p.Tyr240Cys)	rs752039956	0.00001
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter)	rs1275386976	0.00001
NM_000512.5(GALNS):c.757C>T (p.Arg253Trp)	rs775300515	0.00001
NM_000512.5(GALNS):c.911G>T (p.Gly304Val)	rs758439379	0.00001
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser)	rs375495026	0.00001
NM_000528.4(MAN2B1):c.1067C>G (p.Pro356Arg)	rs121434333	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.1713C>T (p.Pro571=)	rs747081586	0.00001
NM_000528.4(MAN2B1):c.2436+2T>C	rs398123457	0.00001
NM_000528.4(MAN2B1):c.2469C>T (p.Arg823=)	rs561895292	0.00001
NM_000528.4(MAN2B1):c.2661G>A (p.Thr887=)	rs775212002	0.00001
NM_000528.4(MAN2B1):c.422del (p.Asp141fs)	rs778399351	0.00001
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp)	rs763257568	0.00001
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=)	rs139218045	0.00001
NM_000531.6(OTC):c.896C>T (p.Thr299Ile)	rs756772340	0.00001
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val)	rs748589919	0.00001
NM_000546.6(TP53):c.1004G>A (p.Arg335His)	rs771939956	0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His)	rs121912664	0.00001
NM_000546.6(TP53):c.1023C>T (p.Phe341=)	rs864622369	0.00001
NM_000546.6(TP53):c.1054G>T (p.Asp352Tyr)	rs1555524394	0.00001
NM_000546.6(TP53):c.1061A>G (p.Gln354Arg)	rs752142489	0.00001
NM_000546.6(TP53):c.1082G>A (p.Gly361Glu)	rs587781663	0.00001
NM_000546.6(TP53):c.1131C>T (p.Thr377=)	rs1456836660	0.00001
NM_000546.6(TP53):c.1133C>G (p.Ser378Cys)	rs1555524130	0.00001
NM_000546.6(TP53):c.123T>C (p.Asp41=)	rs369129220	0.00001
NM_000546.6(TP53):c.12G>A (p.Pro4=)	rs876658274	0.00001
NM_000546.6(TP53):c.144C>T (p.Asp48=)	rs587781460	0.00001
NM_000546.6(TP53):c.14A>G (p.Gln5Arg)	rs781595324	0.00001
NM_000546.6(TP53):c.171C>A (p.Asp57Glu)	rs587782776	0.00001
NM_000546.6(TP53):c.206C>T (p.Ala69Val)	rs756233241	0.00001
NM_000546.6(TP53):c.222C>T (p.Ala74=)	rs786201577	0.00001
NM_000546.6(TP53):c.229C>T (p.Pro77Ser)	rs753085009	0.00001
NM_000546.6(TP53):c.267C>T (p.Pro89=)	rs786201443	0.00001
NM_000546.6(TP53):c.270C>T (p.Ser90=)	rs863224370	0.00001
NM_000546.6(TP53):c.27C>T (p.Ser9=)	rs757282628	0.00001
NM_000546.6(TP53):c.282A>G (p.Ser94=)	rs771721337	0.00001
NM_000546.6(TP53):c.289G>T (p.Val97Phe)	rs730882023	0.00001
NM_000546.6(TP53):c.30C>T (p.Val10=)	rs568171603	0.00001
NM_000546.6(TP53):c.321C>T (p.Tyr107=)	rs770776262	0.00001
NM_000546.6(TP53):c.328C>T (p.Arg110Cys)	rs587781371	0.00001
NM_000546.6(TP53):c.331C>T (p.Leu111=)	rs1403707528	0.00001
NM_000546.6(TP53):c.341T>C (p.Leu114Ser)	rs781724995	0.00001
NM_000546.6(TP53):c.346T>G (p.Ser116Ala)	rs989692988	0.00001
NM_000546.6(TP53):c.354A>T (p.Thr118=)	rs751978853	0.00001
NM_000546.6(TP53):c.375G>A (p.Thr125=)	rs55863639	0.00001
NM_000546.6(TP53):c.376-1G>A	rs868137297	0.00001
NM_000546.6(TP53):c.38C>T (p.Pro13Leu)	rs878854070	0.00001
NM_000546.6(TP53):c.390C>T (p.Leu130=)	rs781537596	0.00001
NM_000546.6(TP53):c.399G>A (p.Met133Ile)	rs1064795139	0.00001
NM_000546.6(TP53):c.405C>T (p.Cys135=)	rs1057519976	0.00001
NM_000546.6(TP53):c.408A>G (p.Gln136=)	rs758781593	0.00001
NM_000546.6(TP53):c.457C>T (p.Pro153Ser)	rs1064795860	0.00001
NM_000546.6(TP53):c.45T>C (p.Ser15=)	rs766765429	0.00001
NM_000546.6(TP53):c.462C>T (p.Gly154=)	rs137852793	0.00001
NM_000546.6(TP53):c.468C>T (p.Arg156=)	rs761222871	0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His)	rs587782144	0.00001
NM_000546.6(TP53):c.4G>A (p.Glu2Lys)	rs769884991	0.00001
NM_000546.6(TP53):c.535C>T (p.His179Tyr)	rs587780070	0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His)	rs397514495	0.00001
NM_000546.6(TP53):c.54A>G (p.Thr18=)	rs876659984	0.00001
NM_000546.6(TP53):c.606T>C (p.Arg202=)	rs1392931620	0.00001
NM_000546.6(TP53):c.60A>G (p.Ser20=)	rs786201754	0.00001
NM_000546.6(TP53):c.633T>G (p.Thr211=)	rs976434163	0.00001
NM_000546.6(TP53):c.672+6G>T	rs766856111	0.00001
NM_000546.6(TP53):c.686G>A (p.Cys229Tyr)	rs1064793603	0.00001
NM_000546.6(TP53):c.694A>C (p.Ile232Leu)	rs1555525562	0.00001
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)	rs730882005	0.00001
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr)	rs121912655	0.00001
NM_000546.6(TP53):c.736A>G (p.Met246Val)	rs483352695	0.00001
NM_000546.6(TP53):c.769C>T (p.Leu257=)	rs779761818	0.00001
NM_000546.6(TP53):c.783-1G>A	rs1555525367	0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)	rs121913343	0.00001
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)	rs863224451	0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	rs28934574	0.00001
NM_000546.6(TP53):c.853G>A (p.Glu285Lys)	rs112431538	0.00001
NM_000546.6(TP53):c.855G>A (p.Glu285=)	rs1487868349	0.00001
NM_000546.6(TP53):c.861G>C (p.Glu287Asp)	rs748891343	0.00001
NM_000546.6(TP53):c.867C>T (p.Leu289=)	rs778138282	0.00001
NM_000546.6(TP53):c.885T>C (p.Pro295=)	rs200073907	0.00001
NM_000546.6(TP53):c.891C>T (p.His297=)	rs750578863	0.00001
NM_000546.6(TP53):c.90C>T (p.Asn30=)	rs370992294	0.00001
NM_000546.6(TP53):c.947C>T (p.Pro316Leu)	rs1555524979	0.00001
NM_000546.6(TP53):c.953C>T (p.Pro318Leu)	rs1555524975	0.00001
NM_000546.6(TP53):c.970G>C (p.Asp324His)	rs1064794810	0.00001
NM_000548.5(TSC2):c.*4C>T	rs368282661	0.00001
NM_000548.5(TSC2):c.1004C>T (p.Ser335Phe)	rs45517144	0.00001
NM_000548.5(TSC2):c.1033C>T (p.Leu345Phe)	rs397515146	0.00001
NM_000548.5(TSC2):c.106A>G (p.Thr36Ala)	rs757113497	0.00001
NM_000548.5(TSC2):c.1077C>T (p.Asp359=)	rs1555500558	0.00001
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val)	rs796053483	0.00001
NM_000548.5(TSC2):c.1134G>A (p.Pro378=)	rs754343186	0.00001
NM_000548.5(TSC2):c.1145C>T (p.Thr382Ile)	rs758511419	0.00001
NM_000548.5(TSC2):c.1146C>A (p.Thr382=)	rs887128869	0.00001
NM_000548.5(TSC2):c.1154A>G (p.His385Arg)	rs757353933	0.00001
NM_000548.5(TSC2):c.1169C>T (p.Thr390Met)	rs1596303442	0.00001
NM_000548.5(TSC2):c.1187A>T (p.Asp396Val)	rs1365616275	0.00001
NM_000548.5(TSC2):c.1213G>C (p.Glu405Gln)	rs765622787	0.00001
NM_000548.5(TSC2):c.123C>T (p.Thr41=)	rs1060504100	0.00001
NM_000548.5(TSC2):c.1298C>G (p.Ser433Cys)	rs397515187	0.00001
NM_000548.5(TSC2):c.131T>C (p.Ile44Thr)	rs1190102918	0.00001
NM_000548.5(TSC2):c.1352G>A (p.Arg451Lys)	rs749780677	0.00001
NM_000548.5(TSC2):c.1362-5C>T	rs372424945	0.00001
NM_000548.5(TSC2):c.1370C>A (p.Ser457Tyr)	rs1278503244	0.00001
NM_000548.5(TSC2):c.1371C>G (p.Ser457=)	rs1060504093	0.00001
NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln)	rs878854077	0.00001
NM_000548.5(TSC2):c.1381G>A (p.Val461Met)	rs796053486	0.00001
NM_000548.5(TSC2):c.1401C>T (p.Asp467=)	rs1433989426	0.00001
NM_000548.5(TSC2):c.1440T>C (p.Tyr480=)	rs45514794	0.00001
NM_000548.5(TSC2):c.1450C>T (p.Leu484=)	rs2087007486	0.00001
NM_000548.5(TSC2):c.1455T>C (p.Ile485=)	rs1239743041	0.00001
NM_000548.5(TSC2):c.1463T>C (p.Val488Ala)	rs760205499	0.00001
NM_000548.5(TSC2):c.1482C>G (p.Ser494=)	rs549189961	0.00001
NM_000548.5(TSC2):c.1514G>A (p.Arg505Gln)	rs376285784	0.00001
NM_000548.5(TSC2):c.152A>C (p.Glu51Ala)	rs772617064	0.00001
NM_000548.5(TSC2):c.1566C>T (p.His522=)	rs876659982	0.00001
NM_000548.5(TSC2):c.1588A>G (p.Ile530Val)	rs786203470	0.00001
NM_000548.5(TSC2):c.1622C>G (p.Pro541Arg)	rs752953762	0.00001
NM_000548.5(TSC2):c.1653C>T (p.Ala551=)	rs202171361	0.00001
NM_000548.5(TSC2):c.1654G>A (p.Ala552Thr)	rs777121421	0.00001
NM_000548.5(TSC2):c.1661C>T (p.Ser554Leu)	rs45471596	0.00001
NM_000548.5(TSC2):c.1678G>A (p.Val560Met)	rs141631268	0.00001
NM_000548.5(TSC2):c.1685C>T (p.Thr562Ile)	rs1463643429	0.00001
NM_000548.5(TSC2):c.1686A>T (p.Thr562=)	rs755900760	0.00001
NM_000548.5(TSC2):c.1689C>T (p.Ala563=)	rs779858018	0.00001
NM_000548.5(TSC2):c.169C>T (p.Arg57Cys)	rs1430159201	0.00001
NM_000548.5(TSC2):c.1717-6C>T	rs1596335934	0.00001
NM_000548.5(TSC2):c.1718C>T (p.Thr573Ile)	rs773304374	0.00001
NM_000548.5(TSC2):c.1743C>A (p.Ser581Arg)	rs775195398	0.00001
NM_000548.5(TSC2):c.1746C>T (p.His582=)	rs876658921	0.00001
NM_000548.5(TSC2):c.1754G>A (p.Arg585His)	rs397515063	0.00001
NM_000548.5(TSC2):c.175C>T (p.Arg59Trp)	rs1015282988	0.00001
NM_000548.5(TSC2):c.1774A>G (p.Ser592Gly)	rs910068556	0.00001
NM_000548.5(TSC2):c.1785G>A (p.Gln595=)	rs150352976	0.00001
NM_000548.5(TSC2):c.1794C>T (p.Tyr598=)	rs45509094	0.00001
NM_000548.5(TSC2):c.1800C>T (p.His600=)	rs762782913	0.00001
NM_000548.5(TSC2):c.1806C>T (p.Tyr602=)	rs367553206	0.00001
NM_000548.5(TSC2):c.1823G>C (p.Ser608Thr)	rs753235037	0.00001
NM_000548.5(TSC2):c.1836G>A (p.Leu612=)	rs758839898	0.00001
NM_000548.5(TSC2):c.1839+10C>T	rs868388786	0.00001
NM_000548.5(TSC2):c.1854G>C (p.Leu618=)	rs1060504088	0.00001
NM_000548.5(TSC2):c.1863G>A (p.Leu621=)	rs1485599658	0.00001
NM_000548.5(TSC2):c.1870G>A (p.Asp624Asn)	rs1334081822	0.00001
NM_000548.5(TSC2):c.1923C>T (p.Ser641=)	rs1555505825	0.00001
NM_000548.5(TSC2):c.1931G>A (p.Cys644Tyr)	rs758301934	0.00001
NM_000548.5(TSC2):c.1945A>G (p.Met649Val)	rs762331610	0.00001
NM_000548.5(TSC2):c.1947G>A (p.Met649Ile)	rs775845436	0.00001
NM_000548.5(TSC2):c.1979G>A (p.Ser660Asn)	rs754504918	0.00001
NM_000548.5(TSC2):c.1983C>T (p.Gly661=)	rs1270679683	0.00001
NM_000548.5(TSC2):c.1993C>G (p.Pro665Ala)	rs1184908674	0.00001
NM_000548.5(TSC2):c.2014C>T (p.Pro672Ser)	rs1262368552	0.00001
NM_000548.5(TSC2):c.2023G>T (p.Ala675Ser)	rs764840082	0.00001
NM_000548.5(TSC2):c.2030C>T (p.Pro677Leu)	rs376974525	0.00001
NM_000548.5(TSC2):c.2038C>T (p.Arg680Trp)	rs876658578	0.00001
NM_000548.5(TSC2):c.2047T>C (p.Ser683Pro)	rs878854080	0.00001
NM_000548.5(TSC2):c.2050G>A (p.Val684Met)	rs779275341	0.00001
NM_000548.5(TSC2):c.2058C>T (p.Tyr686=)	rs1186913814	0.00001
NM_000548.5(TSC2):c.2074G>A (p.Val692Ile)	rs201769220	0.00001
NM_000548.5(TSC2):c.2077C>T (p.Leu693=)	rs1167258871	0.00001
NM_000548.5(TSC2):c.2079G>C (p.Leu693=)	rs764932531	0.00001
NM_000548.5(TSC2):c.2097+5G>C	rs977777731	0.00001
NM_000548.5(TSC2):c.2122C>T (p.Leu708=)	rs778040604	0.00001
NM_000548.5(TSC2):c.2128C>T (p.Leu710=)	rs1225700612	0.00001
NM_000548.5(TSC2):c.2147C>T (p.Ser716Phe)	rs781153452	0.00001
NM_000548.5(TSC2):c.2220+5C>T	rs1164941572	0.00001
NM_000548.5(TSC2):c.2237C>T (p.Thr746Ile)	rs767770242	0.00001
NM_000548.5(TSC2):c.2245C>T (p.Arg749Trp)	rs377397369	0.00001
NM_000548.5(TSC2):c.2250C>T (p.Leu750=)	rs1387127083	0.00001
NM_000548.5(TSC2):c.2252G>A (p.Arg751Gln)	rs749593050	0.00001
NM_000548.5(TSC2):c.2257G>A (p.Ala753Thr)	rs574205203	0.00001
NM_000548.5(TSC2):c.2287C>T (p.His763Tyr)	rs758234726	0.00001
NM_000548.5(TSC2):c.2298G>C (p.Val766=)	rs1157138703	0.00001
NM_000548.5(TSC2):c.229G>A (p.Ala77Thr)	rs777459404	0.00001
NM_000548.5(TSC2):c.2301T>A (p.Val767=)	rs531724951	0.00001
NM_000548.5(TSC2):c.2308C>T (p.Leu770=)	rs762215859	0.00001
NM_000548.5(TSC2):c.2322C>T (p.Ile774=)	rs760885994	0.00001
NM_000548.5(TSC2):c.2330A>G (p.His777Arg)	rs759528809	0.00001
NM_000548.5(TSC2):c.2355+5G>A	rs756995937	0.00001
NM_000548.5(TSC2):c.2355+6A>T	rs904030973	0.00001
NM_000548.5(TSC2):c.2355+8G>A	rs199558375	0.00001
NM_000548.5(TSC2):c.2357G>A (p.Arg786His)	rs796053511	0.00001
NM_000548.5(TSC2):c.2365G>A (p.Val789Ile)	rs779472379	0.00001
NM_000548.5(TSC2):c.2372G>T (p.Cys791Phe)	rs758961134	0.00001
NM_000548.5(TSC2):c.2395C>T (p.Arg799Cys)	rs1366556255	0.00001
NM_000548.5(TSC2):c.2416G>A (p.Val806Met)	rs796053473	0.00001
NM_000548.5(TSC2):c.2454C>T (p.Ile818=)	rs786201599	0.00001
NM_000548.5(TSC2):c.2465C>T (p.Ala822Val)	rs936484229	0.00001
NM_000548.5(TSC2):c.2466G>A (p.Ala822=)	rs141728350	0.00001
NM_000548.5(TSC2):c.2467C>T (p.Leu823=)	rs554509064	0.00001
NM_000548.5(TSC2):c.2479G>A (p.Val827Met)	rs543738044	0.00001
NM_000548.5(TSC2):c.2521G>A (p.Val841Ile)	rs549612492	0.00001
NM_000548.5(TSC2):c.2526A>G (p.Pro842=)	rs753466189	0.00001
NM_000548.5(TSC2):c.2546-4G>A	rs746958032	0.00001
NM_000548.5(TSC2):c.2553C>T (p.Ala851=)	rs745687916	0.00001
NM_000548.5(TSC2):c.2554A>C (p.Arg852=)	rs769586763	0.00001
NM_000548.5(TSC2):c.2568C>G (p.Leu856=)	rs886038354	0.00001
NM_000548.5(TSC2):c.257C>T (p.Ala86Val)	rs1369594860	0.00001
NM_000548.5(TSC2):c.2592G>C (p.Gln864His)	rs763099064	0.00001
NM_000548.5(TSC2):c.2601T>C (p.Ser867=)	rs878854086	0.00001
NM_000548.5(TSC2):c.2610C>T (p.Ala870=)	rs755870234	0.00001
NM_000548.5(TSC2):c.2621C>T (p.Pro874Leu)	rs138527121	0.00001
NM_000548.5(TSC2):c.2631C>T (p.Asn877=)	rs45517251	0.00001
NM_000548.5(TSC2):c.2655C>T (p.Ile885=)	rs1060504116	0.00001
NM_000548.5(TSC2):c.2701C>T (p.Arg901Cys)	rs796053512	0.00001
NM_000548.5(TSC2):c.273G>A (p.Pro91=)	rs772296140	0.00001
NM_000548.5(TSC2):c.2742+3G>A	rs373935836	0.00001
NM_000548.5(TSC2):c.2748G>A (p.Leu916=)	rs757674443	0.00001
NM_000548.5(TSC2):c.2766G>A (p.Leu922=)	rs772858520	0.00001
NM_000548.5(TSC2):c.2780C>A (p.Thr927Asn)	rs144329595	0.00001
NM_000548.5(TSC2):c.2820C>G (p.Leu940=)	rs876659493	0.00001
NM_000548.5(TSC2):c.2823C>T (p.Asn941=)	rs750806272	0.00001
NM_000548.5(TSC2):c.2825A>G (p.Glu942Gly)	rs1018951391	0.00001
NM_000548.5(TSC2):c.2837+4C>T	rs544409858	0.00001
NM_000548.5(TSC2):c.2838-6C>T	rs528706539	0.00001
NM_000548.5(TSC2):c.2844G>A (p.Arg948=)	rs1060504114	0.00001
NM_000548.5(TSC2):c.2877C>G (p.Asn959Lys)	rs147523833	0.00001
NM_000548.5(TSC2):c.2882C>T (p.Pro961Leu)	rs370415754	0.00001
NM_000548.5(TSC2):c.2886C>T (p.Pro962=)	rs140202176	0.00001
NM_000548.5(TSC2):c.2901G>T (p.Lys967Asn)	rs1168031047	0.00001
NM_000548.5(TSC2):c.2917G>A (p.Glu973Lys)	rs780981335	0.00001
NM_000548.5(TSC2):c.2954A>G (p.His985Arg)	rs1330306605	0.00001
NM_000548.5(TSC2):c.2998T>C (p.Leu1000=)	rs756679047	0.00001
NM_000548.5(TSC2):c.3021C>T (p.Ser1007=)	rs201516931	0.00001
NM_000548.5(TSC2):c.3030G>A (p.Gln1010=)	rs776658284	0.00001
NM_000548.5(TSC2):c.3038A>G (p.Asp1013Gly)	rs1060500961	0.00001
NM_000548.5(TSC2):c.3054C>T (p.Leu1018=)	rs762570079	0.00001
NM_000548.5(TSC2):c.3057C>T (p.His1019=)	rs1060504102	0.00001
NM_000548.5(TSC2):c.3088A>G (p.Met1030Val)	rs754276150	0.00001
NM_000548.5(TSC2):c.3131+8C>T	rs763702215	0.00001
NM_000548.5(TSC2):c.3171C>G (p.Thr1057=)	rs1487006409	0.00001
NM_000548.5(TSC2):c.3193A>C (p.Lys1065Gln)	rs751955670	0.00001
NM_000548.5(TSC2):c.3212C>T (p.Thr1071Ile)	rs45498892	0.00001
NM_000548.5(TSC2):c.324C>T (p.Ile108=)	rs973500815	0.00001
NM_000548.5(TSC2):c.3273C>T (p.Gly1091=)	rs1060500971	0.00001
NM_000548.5(TSC2):c.327G>A (p.Val109=)	rs754348511	0.00001
NM_000548.5(TSC2):c.3282G>A (p.Ser1094=)	rs1060504095	0.00001
NM_000548.5(TSC2):c.3284+6T>G	rs375837026	0.00001
NM_000548.5(TSC2):c.3294C>T (p.Pro1098=)	rs150126331	0.00001
NM_000548.5(TSC2):c.3318G>A (p.Lys1106=)	rs1060504119	0.00001
NM_000548.5(TSC2):c.3326C>T (p.Pro1109Leu)	rs796053474	0.00001
NM_000548.5(TSC2):c.336+8C>T	rs779174834	0.00001
NM_000548.5(TSC2):c.3366T>C (p.Arg1122=)	rs778352969	0.00001
NM_000548.5(TSC2):c.337-3T>C	rs770515822	0.00001
NM_000548.5(TSC2):c.3373C>T (p.Arg1125Trp)	rs747420910	0.00001
NM_000548.5(TSC2):c.3374G>A (p.Arg1125Gln)	rs796053475	0.00001
NM_000548.5(TSC2):c.3390C>T (p.Ser1130=)	rs867238767	0.00001
NM_000548.5(TSC2):c.3391A>G (p.Met1131Val)	rs775639244	0.00001
NM_000548.5(TSC2):c.3392T>C (p.Met1131Thr)	rs763122999	0.00001
NM_000548.5(TSC2):c.3401G>A (p.Gly1134Asp)	rs766223343	0.00001
NM_000548.5(TSC2):c.3434C>T (p.Pro1145Leu)	rs397515162	0.00001
NM_000548.5(TSC2):c.3435G>A (p.Pro1145=)	rs749633483	0.00001
NM_000548.5(TSC2):c.3484C>T (p.Pro1162Ser)	rs895935495	0.00001
NM_000548.5(TSC2):c.3487G>T (p.Ala1163Ser)	rs560522093	0.00001
NM_000548.5(TSC2):c.3521G>A (p.Arg1174Gln)	rs368666554	0.00001
NM_000548.5(TSC2):c.3526C>T (p.Pro1176Ser)	rs1326077397	0.00001
NM_000548.5(TSC2):c.3532C>G (p.Gln1178Glu)	rs45517297	0.00001
NM_000548.5(TSC2):c.3538A>G (p.Lys1180Glu)	rs751708490	0.00001
NM_000548.5(TSC2):c.3543G>A (p.Thr1181=)	rs139313964	0.00001
NM_000548.5(TSC2):c.3600G>A (p.Arg1200=)	rs1410559096	0.00001
NM_000548.5(TSC2):c.3606C>T (p.Pro1202=)	rs772580979	0.00001
NM_000548.5(TSC2):c.3634C>T (p.Leu1212=)	rs1358537146	0.00001
NM_000548.5(TSC2):c.3639G>A (p.Glu1213=)	rs747862818	0.00001
NM_000548.5(TSC2):c.3690G>A (p.Glu1230=)	rs876659207	0.00001
NM_000548.5(TSC2):c.3696T>C (p.Ser1232=)	rs767812115	0.00001
NM_000548.5(TSC2):c.3699C>T (p.Asn1233=)	rs773240506	0.00001
NM_000548.5(TSC2):c.3717G>A (p.Glu1239=)	rs765060368	0.00001
NM_000548.5(TSC2):c.3735G>A (p.Arg1245=)	rs756959674	0.00001
NM_000548.5(TSC2):c.3750C>T (p.Tyr1250=)	rs45517308	0.00001
NM_000548.5(TSC2):c.375G>C (p.Lys125Asn)	rs778928295	0.00001
NM_000548.5(TSC2):c.3777C>T (p.Ser1259=)	rs786202178	0.00001
NM_000548.5(TSC2):c.3780G>A (p.Thr1260=)	rs199742312	0.00001
NM_000548.5(TSC2):c.3793C>T (p.Pro1265Ser)	rs45517311	0.00001
NM_000548.5(TSC2):c.3803G>A (p.Arg1268His)	rs200577441	0.00001
NM_000548.5(TSC2):c.3814+10A>G	rs200309006	0.00001
NM_000548.5(TSC2):c.3815-1G>A	rs2090256621	0.00001
NM_000548.5(TSC2):c.3816G>A (p.Val1272=)	rs45517314	0.00001
NM_000548.5(TSC2):c.3817G>A (p.Ala1273Thr)	rs1596404280	0.00001
NM_000548.5(TSC2):c.3818C>T (p.Ala1273Val)	rs749367382	0.00001
NM_000548.5(TSC2):c.3843C>T (p.Ser1281=)	rs1223688571	0.00001
NM_000548.5(TSC2):c.3850C>T (p.Gln1284Ter)	rs753308966	0.00001
NM_000548.5(TSC2):c.3884-8C>G	rs397515219	0.00001
NM_000548.5(TSC2):c.3918C>T (p.Gly1306=)	rs368712041	0.00001
NM_000548.5(TSC2):c.3939G>T (p.Glu1313Asp)	rs149340262	0.00001
NM_000548.5(TSC2):c.3955G>A (p.Asp1319Asn)	rs375883030	0.00001
NM_000548.5(TSC2):c.3958G>A (p.Val1320Ile)	rs767495365	0.00001
NM_000548.5(TSC2):c.3962A>T (p.Glu1321Val)	rs587778736	0.00001
NM_000548.5(TSC2):c.3963G>C (p.Glu1321Asp)	rs587778737	0.00001
NM_000548.5(TSC2):c.3985C>T (p.Arg1329Cys)	rs747695245	0.00001
NM_000548.5(TSC2):c.4006-6T>C	rs1060500953	0.00001
NM_000548.5(TSC2):c.4010C>T (p.Ser1337Phe)	rs200411484	0.00001
NM_000548.5(TSC2):c.4017C>T (p.Val1339=)	rs876658217	0.00001
NM_000548.5(TSC2):c.4037C>T (p.Ser1346Leu)	rs45517326	0.00001
NM_000548.5(TSC2):c.4039C>G (p.Leu1347Val)	rs377050648	0.00001
NM_000548.5(TSC2):c.4046C>T (p.Ala1349Val)	rs201979616	0.00001
NM_000548.5(TSC2):c.4069A>C (p.Ile1357Leu)	rs1555513920	0.00001
NM_000548.5(TSC2):c.4074C>T (p.Pro1358=)	rs144098854	0.00001
NM_000548.5(TSC2):c.4078G>A (p.Glu1360Lys)	rs397514997	0.00001
NM_000548.5(TSC2):c.4080G>A (p.Glu1360=)	rs786203798	0.00001
NM_000548.5(TSC2):c.4082G>A (p.Arg1361Gln)	rs762798984	0.00001
NM_000548.5(TSC2):c.4115T>C (p.Val1372Ala)	rs1300203299	0.00001
NM_000548.5(TSC2):c.4170G>A (p.Glu1390=)	rs1244952951	0.00001
NM_000548.5(TSC2):c.4176G>A (p.Gln1392=)	rs749930791	0.00001
NM_000548.5(TSC2):c.4192C>G (p.Leu1398Val)	rs1060500928	0.00001
NM_000548.5(TSC2):c.4201C>T (p.Pro1401Ser)	rs778147657	0.00001
NM_000548.5(TSC2):c.4260A>G (p.Ser1420=)	rs1285012780	0.00001
NM_000548.5(TSC2):c.4262G>A (p.Gly1421Glu)	rs1368001965	0.00001
NM_000548.5(TSC2):c.4273G>A (p.Gly1425Arg)	rs763497329	0.00001
NM_000548.5(TSC2):c.4275G>A (p.Gly1425=)	rs1057522238	0.00001
NM_000548.5(TSC2):c.4282G>A (p.Ala1428Thr)	rs764533757	0.00001
NM_000548.5(TSC2):c.4313G>A (p.Arg1438Gln)	rs45448791	0.00001
NM_000548.5(TSC2):c.4330C>G (p.Pro1444Ala)	rs1459518095	0.00001
NM_000548.5(TSC2):c.433G>A (p.Ala145Thr)	rs774892845	0.00001
NM_000548.5(TSC2):c.4348C>G (p.Pro1450Ala)	rs376381196	0.00001
NM_000548.5(TSC2):c.4418A>G (p.Lys1473Arg)	rs1219556604	0.00001
NM_000548.5(TSC2):c.4423G>A (p.Val1475Ile)	rs1202676769	0.00001
NM_000548.5(TSC2):c.4448G>C (p.Arg1483Thr)	rs370114027	0.00001
NM_000548.5(TSC2):c.4516C>T (p.His1506Tyr)	rs1173459869	0.00001
NM_000548.5(TSC2):c.4534G>A (p.Asp1512Asn)	rs774441486	0.00001
NM_000548.5(TSC2):c.4554C>T (p.Ile1518=)	rs1204199739	0.00001
NM_000548.5(TSC2):c.4569+4G>A	rs1051944517	0.00001
NM_000548.5(TSC2):c.4569+5G>A	rs746446349	0.00001
NM_000548.5(TSC2):c.456C>T (p.His152=)	rs1596265401	0.00001
NM_000548.5(TSC2):c.4570-1G>A	rs777985056	0.00001
NM_000548.5(TSC2):c.4570-3C>T	rs1166715944	0.00001
NM_000548.5(TSC2):c.4573C>G (p.Gln1525Glu)	rs45517352	0.00001
NM_000548.5(TSC2):c.4577C>A (p.Ser1526Tyr)	rs796053498	0.00001
NM_000548.5(TSC2):c.4635C>T (p.Ile1545=)	rs757388437	0.00001
NM_000548.5(TSC2):c.4636G>A (p.Ala1546Thr)	rs1332979299	0.00001
NM_000548.5(TSC2):c.4703C>G (p.Ser1568Cys)	rs1555516036	0.00001
NM_000548.5(TSC2):c.4707C>T (p.Tyr1569=)	rs397515277	0.00001
NM_000548.5(TSC2):c.4740G>T (p.Arg1580=)	rs930171871	0.00001
NM_000548.5(TSC2):c.4766C>T (p.Pro1589Leu)	rs373635516	0.00001
NM_000548.5(TSC2):c.4779C>T (p.Tyr1593=)	rs45517368	0.00001
NM_000548.5(TSC2):c.4803T>G (p.Gly1601=)	rs377474730	0.00001
NM_000548.5(TSC2):c.481+9C>T	rs201026150	0.00001
NM_000548.5(TSC2):c.482-4C>T	rs780938957	0.00001
NM_000548.5(TSC2):c.4833C>T (p.His1611=)	rs765271161	0.00001
NM_000548.5(TSC2):c.4839C>T (p.Asp1613=)	rs876660657	0.00001
NM_000548.5(TSC2):c.484G>A (p.Asp162Asn)	rs1257721773	0.00001
NM_000548.5(TSC2):c.4850-8A>G	rs372258482	0.00001
NM_000548.5(TSC2):c.486C>T (p.Asp162=)	rs45473598	0.00001
NM_000548.5(TSC2):c.4888G>A (p.Val1630Met)	rs886051796	0.00001
NM_000548.5(TSC2):c.4914G>A (p.Lys1638=)	rs137854094	0.00001
NM_000548.5(TSC2):c.4942A>G (p.Ile1648Val)	rs749554579	0.00001
NM_000548.5(TSC2):c.4950C>T (p.Tyr1650=)	rs1283177454	0.00001
NM_000548.5(TSC2):c.499T>C (p.Trp167Arg)	rs1555498118	0.00001
NM_000548.5(TSC2):c.5022C>T (p.Thr1674=)	rs777184691	0.00001
NM_000548.5(TSC2):c.5029G>A (p.Asp1677Asn)	rs1163037065	0.00001
NM_000548.5(TSC2):c.5037G>A (p.Glu1679=)	rs876658185	0.00001
NM_000548.5(TSC2):c.5049G>T (p.Val1683=)	rs1256890176	0.00001
NM_000548.5(TSC2):c.5058G>A (p.Gln1686=)	rs200700923	0.00001
NM_000548.5(TSC2):c.5061C>T (p.Cys1687=)	rs779923426	0.00001
NM_000548.5(TSC2):c.5069-5C>T	rs762149472	0.00001
NM_000548.5(TSC2):c.5091C>T (p.Thr1697=)	rs111675922	0.00001
NM_000548.5(TSC2):c.5135C>T (p.Ala1712Val)	rs45517394	0.00001
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His)	rs45517395	0.00001
NM_000548.5(TSC2):c.5144T>C (p.Met1715Thr)	rs758246234	0.00001
NM_000548.5(TSC2):c.5161A>G (p.Met1721Val)	rs45517407	0.00001
NM_000548.5(TSC2):c.5175G>A (p.Val1725=)	rs886038357	0.00001
NM_000548.5(TSC2):c.5196C>T (p.Pro1732=)	rs910514279	0.00001
NM_000548.5(TSC2):c.5205C>T (p.Ile1735=)	rs1308899138	0.00001
NM_000548.5(TSC2):c.5209C>T (p.Pro1737Ser)	rs780112037	0.00001
NM_000548.5(TSC2):c.5211C>A (p.Pro1737=)	rs151298910	0.00001
NM_000548.5(TSC2):c.5221A>G (p.Ile1741Val)	rs140526185	0.00001
NM_000548.5(TSC2):c.5232C>T (p.Leu1744=)	rs772865175	0.00001
NM_000548.5(TSC2):c.5258G>A (p.Arg1753Gln)	rs749487441	0.00001
NM_000548.5(TSC2):c.5276C>T (p.Ala1759Val)	rs45477298	0.00001
NM_000548.5(TSC2):c.5286C>T (p.Asn1762=)	rs757204634	0.00001
NM_000548.5(TSC2):c.5291G>A (p.Ser1764Asn)	rs138831802	0.00001
NM_000548.5(TSC2):c.5296C>T (p.Pro1766Ser)	rs779621136	0.00001
NM_000548.5(TSC2):c.5305C>T (p.His1769Tyr)	rs1555441265	0.00001
NM_000548.5(TSC2):c.5318A>G (p.His1773Arg)	rs45517418	0.00001
NM_000548.5(TSC2):c.5329C>T (p.Pro1777Ser)	rs781226141	0.00001
NM_000548.5(TSC2):c.532C>T (p.Leu178=)	rs1465941679	0.00001
NM_000548.5(TSC2):c.5336A>G (p.Gln1779Arg)	rs748947919	0.00001
NM_000548.5(TSC2):c.5337G>A (p.Gln1779=)	rs768237144	0.00001
NM_000548.5(TSC2):c.5357C>G (p.Pro1786Arg)	rs770117004	0.00001
NM_000548.5(TSC2):c.5363A>G (p.Tyr1788Cys)	rs397515221	0.00001
NM_000548.5(TSC2):c.5370G>C (p.Val1790=)	rs762032752	0.00001
NM_000548.5(TSC2):c.5374C>A (p.Gln1792Lys)	rs201916931	0.00001
NM_000548.5(TSC2):c.5377C>T (p.Arg1793Trp)	rs1473538868	0.00001
NM_000548.5(TSC2):c.5386C>T (p.Leu1796Phe)	rs45455398	0.00001
NM_000548.5(TSC2):c.5389A>C (p.Ile1797Leu)	rs796053479	0.00001
NM_000548.5(TSC2):c.5409C>T (p.Phe1803=)	rs770270816	0.00001
NM_000548.5(TSC2):c.560A>G (p.Asn187Ser)	rs45505405	0.00001
NM_000548.5(TSC2):c.573C>T (p.Leu191=)	rs397515059	0.00001
NM_000548.5(TSC2):c.576C>T (p.Asp192=)	rs761704292	0.00001
NM_000548.5(TSC2):c.582C>T (p.Tyr194=)	rs750174170	0.00001
NM_000548.5(TSC2):c.599+10G>C	rs1037449903	0.00001
NM_000548.5(TSC2):c.599+3A>G	rs397514899	0.00001
NM_000548.5(TSC2):c.603G>C (p.Met201Ile)	rs45506197	0.00001
NM_000548.5(TSC2):c.622C>T (p.Arg208Trp)	rs374410454	0.00001
NM_000548.5(TSC2):c.643A>G (p.Ile215Val)	rs1293515155	0.00001
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys)	rs45517118	0.00001
NM_000548.5(TSC2):c.655C>T (p.Leu219=)	rs369046625	0.00001
NM_000548.5(TSC2):c.674T>C (p.Val225Ala)	rs1437259556	0.00001
NM_000548.5(TSC2):c.686A>G (p.Asn229Ser)	rs1555498800	0.00001
NM_000548.5(TSC2):c.704G>A (p.Ser235Asn)	rs397514957	0.00001
NM_000548.5(TSC2):c.713T>C (p.Leu238Pro)	rs768623382	0.00001
NM_000548.5(TSC2):c.733C>T (p.Arg245Cys)	rs375574283	0.00001
NM_000548.5(TSC2):c.739A>G (p.Ile247Val)	rs774526017	0.00001
NM_000548.5(TSC2):c.743A>G (p.Asn248Ser)	rs762104739	0.00001
NM_000548.5(TSC2):c.744C>T (p.Asn248=)	rs767565673	0.00001
NM_000548.5(TSC2):c.745G>A (p.Val249Ile)	rs750649974	0.00001
NM_000548.5(TSC2):c.775-5C>T	rs181827303	0.00001
NM_000548.5(TSC2):c.821A>G (p.Tyr274Cys)	rs1305592691	0.00001
NM_000548.5(TSC2):c.837C>T (p.Leu279=)	rs746694709	0.00001
NM_000548.5(TSC2):c.83C>A (p.Pro28His)	rs1057522105	0.00001
NM_000548.5(TSC2):c.849-13G>A	rs886051787	0.00001
NM_000548.5(TSC2):c.849-4T>C	rs752614339	0.00001
NM_000548.5(TSC2):c.849-6T>G	rs886038358	0.00001
NM_000548.5(TSC2):c.855C>T (p.Tyr285=)	rs794726983	0.00001
NM_000548.5(TSC2):c.857T>C (p.Met286Thr)	rs45517136	0.00001
NM_000548.5(TSC2):c.867G>A (p.Ala289=)	rs375163125	0.00001
NM_000548.5(TSC2):c.879A>G (p.Arg293=)	rs369222477	0.00001
NM_000548.5(TSC2):c.885C>T (p.Ala295=)	rs778296481	0.00001
NM_000548.5(TSC2):c.886G>A (p.Val296Met)	rs747237113	0.00001
NM_000548.5(TSC2):c.893T>C (p.Phe298Ser)	rs747310967	0.00001
NM_000548.5(TSC2):c.923G>A (p.Arg308Gln)	rs1213252028	0.00001
NM_000548.5(TSC2):c.932C>G (p.Ser311Cys)	rs1475672414	0.00001
NM_000548.5(TSC2):c.944C>T (p.Ser315Leu)	rs202082319	0.00001
NM_000548.5(TSC2):c.947C>A (p.Pro316Gln)	rs751490043	0.00001
NM_000548.5(TSC2):c.951A>G (p.Thr317=)	rs767275578	0.00001
NM_000548.5(TSC2):c.97G>A (p.Gly33Ser)	rs370230541	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.1082+4T>A	rs781204563	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.22del (p.Arg8fs)	rs1215043175	0.00001
NM_000642.3(AGL):c.2309-1G>A	rs786204481	0.00001
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg)	rs772347559	0.00001
NM_000642.3(AGL):c.289C>T (p.Gln97Ter)	rs1553183220	0.00001
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)	rs531425980	0.00001
NM_000642.3(AGL):c.318C>T (p.Tyr106=)	rs376885398	0.00001
NM_000642.3(AGL):c.3259+1G>A	rs1394576194	0.00001
NM_000642.3(AGL):c.3554del (p.Thr1185fs)	rs764318570	0.00001
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter)	rs113994131	0.00001
NM_000642.3(AGL):c.664+3A>G	rs370792293	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_000702.4(ATP1A2):c.1572G>A (p.Glu524=)	rs775192056	0.00001
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys)	rs182923857	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.435C>T (p.Ala145=)	rs369278165	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.761C>A (p.Ala254Asp)	rs373713279	0.00001
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp)	rs137852873	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_000709.4(BCKDHA):c.995+8C>T	rs886054462	0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)	rs200883871	0.00001
NM_000925.4(PDHB):c.45C>G (p.Val15=)	rs747916943	0.00001
NM_001008216.2(GALE):c.529-11A>G	rs1463746382	0.00001
NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu)	rs796052338	0.00001
NM_001042432.2(CLN3):c.837+5G>A	rs756848924	0.00001
NM_001042432.2(CLN3):c.949C>T (p.Gln317Ter)	rs796052335	0.00001
NM_001042492.3(NF1):c.1004A>G (p.Asn335Ser)	rs758212945	0.00001
NM_001042492.3(NF1):c.1062+6A>G	rs1060500291	0.00001
NM_001042492.3(NF1):c.1130T>C (p.Ile377Thr)	rs878853863	0.00001
NM_001042492.3(NF1):c.1138C>T (p.Leu380Phe)	rs1426127948	0.00001
NM_001042492.3(NF1):c.1153C>T (p.Arg385Cys)	rs1322986962	0.00001
NM_001042492.3(NF1):c.1213A>G (p.Thr405Ala)	rs587782233	0.00001
NM_001042492.3(NF1):c.1247G>A (p.Arg416Gln)	rs1343309278	0.00001
NM_001042492.3(NF1):c.1264G>A (p.Ala422Thr)	rs786202145	0.00001
NM_001042492.3(NF1):c.1370A>T (p.His457Leu)	rs786202763	0.00001
NM_001042492.3(NF1):c.1392G>A (p.Pro464=)	rs201604273	0.00001
NM_001042492.3(NF1):c.1413A>G (p.Lys471=)	rs1309932338	0.00001
NM_001042492.3(NF1):c.1444A>G (p.Thr482Ala)	rs770201871	0.00001
NM_001042492.3(NF1):c.1549G>A (p.Glu517Lys)	rs587778548	0.00001
NM_001042492.3(NF1):c.1553C>T (p.Thr518Ile)	rs587782696	0.00001
NM_001042492.3(NF1):c.1756A>C (p.Thr586Pro)	rs876659242	0.00001
NM_001042492.3(NF1):c.1769T>C (p.Met590Thr)	rs761559887	0.00001
NM_001042492.3(NF1):c.178A>G (p.Thr60Ala)	rs546729596	0.00001
NM_001042492.3(NF1):c.1801C>T (p.Arg601Trp)	rs587782592	0.00001
NM_001042492.3(NF1):c.1870T>C (p.Phe624Leu)	rs765060733	0.00001
NM_001042492.3(NF1):c.1907C>G (p.Ser636Cys)	rs780412565	0.00001
NM_001042492.3(NF1):c.1921A>G (p.Ser641Gly)	rs769154907	0.00001
NM_001042492.3(NF1):c.1936G>T (p.Asp646Tyr)	rs142079728	0.00001
NM_001042492.3(NF1):c.1960C>T (p.Pro654Ser)	rs765281937	0.00001
NM_001042492.3(NF1):c.1985A>G (p.Lys662Arg)	rs578141234	0.00001
NM_001042492.3(NF1):c.1999A>G (p.Met667Val)	rs749833271	0.00001
NM_001042492.3(NF1):c.2054C>G (p.Thr685Ser)	rs876658190	0.00001
NM_001042492.3(NF1):c.2065G>A (p.Val689Met)	rs771784652	0.00001
NM_001042492.3(NF1):c.2097C>T (p.Asp699=)	rs547905840	0.00001
NM_001042492.3(NF1):c.212T>C (p.Phe71Ser)	rs752396270	0.00001
NM_001042492.3(NF1):c.2156T>C (p.Ile719Thr)	rs754025938	0.00001
NM_001042492.3(NF1):c.2158C>T (p.Arg720Trp)	rs759679443	0.00001
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln)	rs1350468182	0.00001
NM_001042492.3(NF1):c.2244G>A (p.Met748Ile)	rs786202478	0.00001
NM_001042492.3(NF1):c.2248A>G (p.Thr750Ala)	rs748064845	0.00001
NM_001042492.3(NF1):c.2251+5A>G	rs786201934	0.00001
NM_001042492.3(NF1):c.2257G>A (p.Ala753Thr)	rs758325102	0.00001
NM_001042492.3(NF1):c.2342A>T (p.His781Leu)	rs199474763	0.00001
NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg)	rs199474730	0.00001
NM_001042492.3(NF1):c.2409+5G>A	rs763688567	0.00001
NM_001042492.3(NF1):c.2410-8G>A	rs1060500270	0.00001
NM_001042492.3(NF1):c.2434A>C (p.Ile812Leu)	rs587781899	0.00001
NM_001042492.3(NF1):c.2476A>C (p.Ile826Leu)	rs767069721	0.00001
NM_001042492.3(NF1):c.256A>G (p.Ile86Val)	rs757057811	0.00001
NM_001042492.3(NF1):c.2597C>T (p.Pro866Leu)	rs767159555	0.00001
NM_001042492.3(NF1):c.2618G>A (p.Arg873His)	rs949092641	0.00001
NM_001042492.3(NF1):c.2623G>A (p.Gly875Ser)	rs754734571	0.00001
NM_001042492.3(NF1):c.2629A>G (p.Met877Val)	rs764950557	0.00001
NM_001042492.3(NF1):c.2633T>C (p.Ile878Thr)	rs372049168	0.00001
NM_001042492.3(NF1):c.2643G>A (p.Met881Ile)	rs376666221	0.00001
NM_001042492.3(NF1):c.2659G>A (p.Ala887Thr)	rs1251621684	0.00001
NM_001042492.3(NF1):c.2666C>G (p.Thr889Arg)	rs369912079	0.00001
NM_001042492.3(NF1):c.2689C>T (p.Arg897Trp)	rs775949348	0.00001
NM_001042492.3(NF1):c.2741G>A (p.Arg914Gln)	rs776447057	0.00001
NM_001042492.3(NF1):c.2749G>A (p.Val917Ile)	rs752455591	0.00001
NM_001042492.3(NF1):c.2794A>G (p.Met932Val)	rs886052800	0.00001
NM_001042492.3(NF1):c.2803A>C (p.Asn935His)	rs786201823	0.00001
NM_001042492.3(NF1):c.2902A>G (p.Met968Val)	rs587781499	0.00001
NM_001042492.3(NF1):c.2998C>T (p.Arg1000Cys)	rs367684252	0.00001
NM_001042492.3(NF1):c.3013A>G (p.Met1005Val)	rs1555614502	0.00001
NM_001042492.3(NF1):c.3039G>A (p.Thr1013=)	rs876660168	0.00001
NM_001042492.3(NF1):c.3062T>G (p.Val1021Gly)	rs1355411201	0.00001
NM_001042492.3(NF1):c.3103A>G (p.Met1035Val)	rs771694969	0.00001
NM_001042492.3(NF1):c.323T>C (p.Met108Thr)	rs780233935	0.00001
NM_001042492.3(NF1):c.3330T>A (p.Phe1110Leu)	rs1256152851	0.00001
NM_001042492.3(NF1):c.3359T>C (p.Val1120Ala)	rs751571517	0.00001
NM_001042492.3(NF1):c.3362A>G (p.Glu1121Gly)	rs757222815	0.00001
NM_001042492.3(NF1):c.3394C>T (p.Arg1132Cys)	rs587781725	0.00001
NM_001042492.3(NF1):c.3461A>G (p.Asn1154Ser)	rs371544233	0.00001
NM_001042492.3(NF1):c.3469G>A (p.Val1157Ile)	rs375845704	0.00001
NM_001042492.3(NF1):c.3485T>G (p.Met1162Arg)	rs200732832	0.00001
NM_001042492.3(NF1):c.348A>T (p.Glu116Asp)	rs1231174547	0.00001
NM_001042492.3(NF1):c.3527G>T (p.Arg1176Ile)	rs1227027709	0.00001
NM_001042492.3(NF1):c.3590C>G (p.Ala1197Gly)	rs370820478	0.00001
NM_001042492.3(NF1):c.3610C>T (p.Arg1204Trp)	rs199474732	0.00001
NM_001042492.3(NF1):c.3694C>T (p.Pro1232Ser)	rs1482085668	0.00001
NM_001042492.3(NF1):c.3722G>A (p.Arg1241Gln)	rs543387071	0.00001
NM_001042492.3(NF1):c.3748C>T (p.Arg1250Trp)	rs1452005208	0.00001
NM_001042492.3(NF1):c.3749G>A (p.Arg1250Gln)	rs199474765	0.00001
NM_001042492.3(NF1):c.374G>A (p.Arg125His)	rs149003051	0.00001
NM_001042492.3(NF1):c.3779T>C (p.Met1260Thr)	rs1555615463	0.00001
NM_001042492.3(NF1):c.3811A>G (p.Met1271Val)	rs746583007	0.00001
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly)	rs199474742	0.00001
NM_001042492.3(NF1):c.3906T>G (p.Asp1302Glu)	rs549058591	0.00001
NM_001042492.3(NF1):c.3911T>C (p.Leu1304Ser)	rs761512189	0.00001
NM_001042492.3(NF1):c.3970A>G (p.Thr1324Ala)	rs189522993	0.00001
NM_001042492.3(NF1):c.3974+9T>A	rs368586596	0.00001
NM_001042492.3(NF1):c.3976T>A (p.Leu1326Ile)	rs765957571	0.00001
NM_001042492.3(NF1):c.3989A>C (p.Glu1330Ala)	rs1256727206	0.00001
NM_001042492.3(NF1):c.4000G>A (p.Glu1334Lys)	rs878853892	0.00001
NM_001042492.3(NF1):c.403C>T (p.Arg135Trp)	rs775191883	0.00001
NM_001042492.3(NF1):c.4046C>A (p.Ala1349Asp)	rs1229215269	0.00001
NM_001042492.3(NF1):c.404G>A (p.Arg135Gln)	rs1060500244	0.00001
NM_001042492.3(NF1):c.4055G>C (p.Ser1352Thr)	rs876660908	0.00001
NM_001042492.3(NF1):c.4085G>A (p.Arg1362Gln)	rs540108477	0.00001
NM_001042492.3(NF1):c.4098C>G (p.His1366Gln)	rs1555617377	0.00001
NM_001042492.3(NF1):c.4110+4T>C	rs587781700	0.00001
NM_001042492.3(NF1):c.4187G>A (p.Arg1396His)	rs368685980	0.00001
NM_001042492.3(NF1):c.4201A>T (p.Ser1401Cys)	rs1060500310	0.00001
NM_001042492.3(NF1):c.4306G>A (p.Glu1436Lys)	rs876660428	0.00001
NM_001042492.3(NF1):c.4352A>G (p.Asn1451Ser)	rs199474754	0.00001
NM_001042492.3(NF1):c.4384C>T (p.Arg1462Trp)	rs876658127	0.00001
NM_001042492.3(NF1):c.4385G>A (p.Arg1462Gln)	rs370852681	0.00001
NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn)	rs876660093	0.00001
NM_001042492.3(NF1):c.4495A>G (p.Ile1499Val)	rs764654925	0.00001
NM_001042492.3(NF1):c.4503C>T (p.Asp1501=)	rs577394398	0.00001
NM_001042492.3(NF1):c.4504G>A (p.Gly1502Ser)	rs876659607	0.00001
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His)	rs1555618837	0.00001
NM_001042492.3(NF1):c.4508A>G (p.Asn1503Ser)	rs587781445	0.00001
NM_001042492.3(NF1):c.451A>C (p.Asn151His)	rs769391944	0.00001
NM_001042492.3(NF1):c.452A>G (p.Asn151Ser)	rs1567817981	0.00001
NM_001042492.3(NF1):c.4577+3A>G	rs1060500246	0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)	rs760703505	0.00001
NM_001042492.3(NF1):c.4601G>A (p.Arg1534Gln)	rs867955218	0.00001
NM_001042492.3(NF1):c.4724+3A>G	rs781147524	0.00001
NM_001042492.3(NF1):c.4766C>T (p.Thr1589Met)	rs185660700	0.00001
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val)	rs199474766	0.00001
NM_001042492.3(NF1):c.4957C>T (p.Arg1653Cys)	rs876659922	0.00001
NM_001042492.3(NF1):c.5087T>C (p.Leu1696Pro)	rs745489489	0.00001
NM_001042492.3(NF1):c.5098C>T (p.Leu1700Phe)	rs775786295	0.00001
NM_001042492.3(NF1):c.5115G>C (p.Arg1705Ser)	rs749669269	0.00001
NM_001042492.3(NF1):c.5125A>G (p.Ile1709Val)	rs774720054	0.00001
NM_001042492.3(NF1):c.5167C>G (p.Gln1723Glu)	rs766727694	0.00001
NM_001042492.3(NF1):c.5270T>C (p.Val1757Ala)	rs1021835871	0.00001
NM_001042492.3(NF1):c.5289A>G (p.Gln1763=)	rs199703296	0.00001
NM_001042492.3(NF1):c.5290G>A (p.Val1764Ile)	rs778427434	0.00001
NM_001042492.3(NF1):c.5293A>G (p.Thr1765Ala)	rs747584987	0.00001
NM_001042492.3(NF1):c.5299G>A (p.Ala1767Thr)	rs529905904	0.00001
NM_001042492.3(NF1):c.529A>G (p.Ile177Val)	rs766213678	0.00001
NM_001042492.3(NF1):c.5344A>G (p.Ile1782Val)	rs1160436761	0.00001
NM_001042492.3(NF1):c.5351A>T (p.Tyr1784Phe)	rs1060500280	0.00001
NM_001042492.3(NF1):c.5381T>C (p.Val1794Ala)	rs142867979	0.00001
NM_001042492.3(NF1):c.5407A>G (p.Ile1803Val)	rs559910904	0.00001
NM_001042492.3(NF1):c.5458A>C (p.Ile1820Leu)	rs786202459	0.00001
NM_001042492.3(NF1):c.5470A>G (p.Ile1824Val)	rs370858405	0.00001
NM_001042492.3(NF1):c.5482C>T (p.Arg1828Trp)	rs1555533609	0.00001
NM_001042492.3(NF1):c.551A>G (p.Asn184Ser)	rs876659849	0.00001
NM_001042492.3(NF1):c.5610-4C>G	rs1419030713	0.00001
NM_001042492.3(NF1):c.5731A>G (p.Ile1911Val)	rs146523293	0.00001
NM_001042492.3(NF1):c.5753A>G (p.Asn1918Ser)	rs534249104	0.00001
NM_001042492.3(NF1):c.5812+332A>G	rs863224491	0.00001
NM_001042492.3(NF1):c.5813G>A (p.Ser1938Asn)	rs906075234	0.00001
NM_001042492.3(NF1):c.584A>G (p.Lys195Arg)	rs587778552	0.00001
NM_001042492.3(NF1):c.587-3C>T	rs375188075	0.00001
NM_001042492.3(NF1):c.5947A>G (p.Ile1983Val)	rs876658484	0.00001
NM_001042492.3(NF1):c.5951A>G (p.Asn1984Ser)	rs764291252	0.00001
NM_001042492.3(NF1):c.6148G>T (p.Val2050Phe)	rs1300330804	0.00001
NM_001042492.3(NF1):c.6316G>A (p.Val2106Ile)	rs755791578	0.00001
NM_001042492.3(NF1):c.631G>A (p.Ala211Thr)	rs781519491	0.00001
NM_001042492.3(NF1):c.6322A>T (p.Thr2108Ser)	rs1024333224	0.00001
NM_001042492.3(NF1):c.6334G>A (p.Ala2112Thr)	rs749672954	0.00001
NM_001042492.3(NF1):c.6368A>T (p.His2123Leu)	rs112546213	0.00001
NM_001042492.3(NF1):c.6442G>A (p.Val2148Ile)	rs770993581	0.00001
NM_001042492.3(NF1):c.6586A>G (p.Thr2196Ala)	rs372169109	0.00001
NM_001042492.3(NF1):c.6637A>G (p.Met2213Val)	rs864622330	0.00001
NM_001042492.3(NF1):c.6665C>T (p.Thr2222Met)	rs369803831	0.00001
NM_001042492.3(NF1):c.6671A>G (p.Lys2224Arg)	rs749567006	0.00001
NM_001042492.3(NF1):c.6674G>A (p.Trp2225Ter)	rs1193716348	0.00001
NM_001042492.3(NF1):c.6717A>G (p.Gln2239=)	rs2069724967	0.00001
NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln)	rs786202030	0.00001
NM_001042492.3(NF1):c.67A>G (p.Ile23Val)	rs542824372	0.00001
NM_001042492.3(NF1):c.6806G>A (p.Arg2269His)	rs562367786	0.00001
NM_001042492.3(NF1):c.6819+6T>C	rs1407700643	0.00001
NM_001042492.3(NF1):c.6837A>C (p.Leu2279Phe)	rs144287929	0.00001
NM_001042492.3(NF1):c.7009C>T (p.Leu2337Phe)	rs367734104	0.00001
NM_001042492.3(NF1):c.7045C>T (p.Arg2349Cys)	rs56013763	0.00001
NM_001042492.3(NF1):c.7055A>G (p.Asn2352Ser)	rs763082717	0.00001
NM_001042492.3(NF1):c.7091G>A (p.Arg2364Gln)	rs1555535407	0.00001
NM_001042492.3(NF1):c.7135G>A (p.Gly2379Arg)	rs775476318	0.00001
NM_001042492.3(NF1):c.7211C>T (p.Ala2404Val)	rs771706364	0.00001
NM_001042492.3(NF1):c.7253C>T (p.Thr2418Ile)	rs764022114	0.00001
NM_001042492.3(NF1):c.7305C>T (p.Ser2435=)	rs369754180	0.00001
NM_001042492.3(NF1):c.7349G>A (p.Arg2450Gln)	rs533110479	0.00001
NM_001042492.3(NF1):c.734G>A (p.Cys245Tyr)	rs587781869	0.00001
NM_001042492.3(NF1):c.7370A>G (p.His2457Arg)	rs863224664	0.00001
NM_001042492.3(NF1):c.7394A>G (p.Asp2465Gly)	rs143474365	0.00001
NM_001042492.3(NF1):c.7402A>G (p.Met2468Val)	rs151211377	0.00001
NM_001042492.3(NF1):c.7432A>G (p.Ile2478Val)	rs759307070	0.00001
NM_001042492.3(NF1):c.7439A>G (p.His2480Arg)	rs371151718	0.00001
NM_001042492.3(NF1):c.7456A>G (p.Arg2486Gly)	rs752162999	0.00001
NM_001042492.3(NF1):c.7466A>G (p.Lys2489Arg)	rs864622249	0.00001
NM_001042492.3(NF1):c.747A>G (p.Leu249=)	rs761964963	0.00001
NM_001042492.3(NF1):c.7487C>G (p.Ser2496Cys)	rs371773406	0.00001
NM_001042492.3(NF1):c.7490C>T (p.Pro2497Leu)	rs1555536347	0.00001
NM_001042492.3(NF1):c.7513G>A (p.Ala2505Thr)	rs786202955	0.00001
NM_001042492.3(NF1):c.7525C>T (p.Pro2509Ser)	rs886052803	0.00001
NM_001042492.3(NF1):c.7533C>T (p.Val2511=)	rs760733171	0.00001
NM_001042492.3(NF1):c.7534G>A (p.Gly2512Ser)	rs766496842	0.00001
NM_001042492.3(NF1):c.7643T>G (p.Ile2548Arg)	rs864622266	0.00001
NM_001042492.3(NF1):c.7645T>C (p.Ser2549Pro)	rs767458044	0.00001
NM_001042492.3(NF1):c.7780C>T (p.Arg2594Cys)	rs372787215	0.00001
NM_001042492.3(NF1):c.7781G>A (p.Arg2594His)	rs774781617	0.00001
NM_001042492.3(NF1):c.7810C>G (p.Leu2604Val)	rs776602307	0.00001
NM_001042492.3(NF1):c.7825G>A (p.Val2609Ile)	rs786203848	0.00001
NM_001042492.3(NF1):c.7837C>T (p.Pro2613Ser)	rs138839077	0.00001
NM_001042492.3(NF1):c.7850C>T (p.Ala2617Val)	rs375990655	0.00001
NM_001042492.3(NF1):c.7876C>G (p.Leu2626Val)	rs1555536748	0.00001
NM_001042492.3(NF1):c.7889C>G (p.Thr2630Ser)	rs1283946778	0.00001
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala)	rs199474793	0.00001
NM_001042492.3(NF1):c.7943T>G (p.Val2648Gly)	rs1487025591	0.00001
NM_001042492.3(NF1):c.8080T>C (p.Ser2694Pro)	rs876658554	0.00001
NM_001042492.3(NF1):c.8150C>T (p.Pro2717Leu)	rs778799019	0.00001
NM_001042492.3(NF1):c.8324A>G (p.Asn2775Ser)	rs772090874	0.00001
NM_001042492.3(NF1):c.8377+4A>G	rs1224454019	0.00001
NM_001042492.3(NF1):c.8386A>C (p.Lys2796Gln)	rs1383658117	0.00001
NM_001042492.3(NF1):c.83A>C (p.Gln28Pro)	rs587782686	0.00001
NM_001042492.3(NF1):c.8446G>A (p.Gly2816Arg)	rs778233452	0.00001
NM_001042492.3(NF1):c.845A>G (p.Gln282Arg)	rs779034900	0.00001
NM_001042492.3(NF1):c.8495G>A (p.Arg2832His)	rs587781523	0.00001
NM_001042492.3(NF1):c.8500A>G (p.Ser2834Gly)	rs764858484	0.00001
NM_001042492.3(NF1):c.853T>G (p.Ser285Ala)	rs1555608981	0.00001
NM_001042492.3(NF1):c.862G>A (p.Val288Met)	rs755670651	0.00001
NM_001042492.3(NF1):c.873A>C (p.Glu291Asp)	rs754915138	0.00001
NM_001042492.3(NF1):c.911G>A (p.Arg304Gln)	rs76015786	0.00001
NM_001042492.3(NF1):c.91C>T (p.His31Tyr)	rs786202864	0.00001
NM_001042492.3(NF1):c.964A>G (p.Ile322Val)	rs755007999	0.00001
NM_001042492.3(NF1):c.98A>G (p.Lys33Arg)	rs1555604887	0.00001
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs)	rs779357448	0.00001
NM_001126108.2(SLC12A3):c.1545C>T (p.Ile515=)	rs764801122	0.00001
NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys)	rs747249619	0.00001
NM_001126108.2(SLC12A3):c.2089_2095del (p.Thr697fs)	rs771701344	0.00001
NM_001126108.2(SLC12A3):c.2244G>A (p.Ser748=)	rs150633177	0.00001
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His)	rs185927948	0.00001
NM_001126108.2(SLC12A3):c.533C>T (p.Ser178Leu)	rs772589653	0.00001
NM_001130438.3(SPTAN1):c.1389C>T (p.Tyr463=)	rs587784431	0.00001
NM_001130987.2(DYSF):c.1905C>T (p.Ile635=)	rs567956595	0.00001
NM_001148.6(ANK2):c.2819C>G (p.Ala940Gly)	rs537484483	0.00001
NM_001148.6(ANK2):c.4123-13T>C	rs759465783	0.00001
NM_001182.5(ALDH7A1):c.1061A>G (p.Tyr354Cys)	rs1471249688	0.00001
NM_001182.5(ALDH7A1):c.1292C>T (p.Pro431Leu)	rs151107837	0.00001
NM_001182.5(ALDH7A1):c.1375A>T (p.Ile459Phe)	rs186558364	0.00001
NM_001182.5(ALDH7A1):c.1489+5G>A	rs368820286	0.00001
NM_001182.5(ALDH7A1):c.1565+1G>T	rs1064793830	0.00001
NM_001182.5(ALDH7A1):c.246+1G>A	rs764588746	0.00001
NM_001182.5(ALDH7A1):c.312+1G>A	rs199497486	0.00001
NM_001182.5(ALDH7A1):c.530C>A (p.Ala177Glu)	rs764417585	0.00001
NM_001205293.3(CACNA1E):c.2298G>A (p.Leu766=)	rs1257129141	0.00001
NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter)	rs1243213118	0.00001
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter)	rs776976178	0.00001
NM_001253852.3(AP4B1):c.1540C>T (p.Arg514Ter)	rs767220480	0.00001
NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn)	rs121964855	0.00001
NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln)	rs121964856	0.00001
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys)	rs397516463	0.00001
NM_001276345.2(TNNT2):c.601-1G>A	rs483352835	0.00001
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter)	rs727504247	0.00001
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=)	rs767700692	0.00001
NM_001365088.1(SLC12A6):c.1707A>G (p.Pro569=)	rs764272139	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_001367561.1(DOCK7):c.4637dup (p.Thr1547fs)	rs770283117	0.00001
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His)	rs587777395	0.00001
NM_001377299.1(NDUFS2):c.1237T>C (p.Ser413Pro)	rs121434429	0.00001
NM_001876.4(CPT1A):c.317G>A (p.Ser106Asn)	rs766819782	0.00001
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr)	rs1449113689	0.00001
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter)	rs398123660	0.00001
NM_001918.5(DBT):c.1400G>A (p.Trp467Ter)	rs767760099	0.00001
NM_001918.5(DBT):c.1430T>G (p.Met477Arg)	rs398123662	0.00001
NM_001918.5(DBT):c.206T>C (p.Leu69Pro)	rs1663813561	0.00001
NM_001918.5(DBT):c.434-15_434-4del	rs727503895	0.00001
NM_001918.5(DBT):c.5C>T (p.Ala2Val)	rs398123672	0.00001
NM_002485.5(NBN):c.11del (p.Leu4fs)	rs1064793210	0.00001
NM_002485.5(NBN):c.1315A>G (p.Ile439Val)	rs752837508	0.00001
NM_002485.5(NBN):c.1383G>A (p.Pro461=)	rs886063169	0.00001
NM_002485.5(NBN):c.1397+3C>G	rs876660481	0.00001
NM_002485.5(NBN):c.1465C>G (p.Leu489Val)	rs143948240	0.00001
NM_002485.5(NBN):c.171+4T>C	rs587782290	0.00001
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter)	rs786201745	0.00001
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter)	rs1337679118	0.00001
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)	rs730881857	0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)	rs730881864	0.00001
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)	rs1057516320	0.00001
NM_002485.5(NBN):c.286G>A (p.Gly96Ser)	rs730882133	0.00001
NM_002485.5(NBN):c.321-17C>G	rs763878712	0.00001
NM_002485.5(NBN):c.37+3A>G	rs764356392	0.00001
NM_002485.5(NBN):c.38-7A>G	rs863224392	0.00001
NM_002485.5(NBN):c.390A>G (p.Gln130=)	rs146150499	0.00001
NM_002485.5(NBN):c.567G>A (p.Gln189=)	rs1203807404	0.00001
NM_002485.5(NBN):c.60del (p.Gly21fs)	rs758708229	0.00001
NM_002485.5(NBN):c.646C>A (p.Gln216Lys)	rs769416	0.00001
NM_002485.5(NBN):c.666C>T (p.Phe222=)	rs876661098	0.00001
NM_002485.5(NBN):c.7A>T (p.Lys3Ter)	rs779098734	0.00001
NM_002485.5(NBN):c.897G>A (p.Arg299=)	rs779798363	0.00001
NM_002485.5(NBN):c.994+5T>C	rs778254433	0.00001
NM_002529.4(NTRK1):c.1359G>A (p.Pro453=)	rs200937156	0.00001
NM_002529.4(NTRK1):c.2020G>T (p.Asp674Tyr)	rs80356677	0.00001
NM_002529.4(NTRK1):c.2047-6T>C	rs762866535	0.00001
NM_002529.4(NTRK1):c.311G>A (p.Arg104His)	rs578095133	0.00001
NM_002529.4(NTRK1):c.638T>C (p.Leu213Pro)	rs747711259	0.00001
NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu)	rs886042092	0.00001
NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys)	rs386134218	0.00001
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys)	rs72552734	0.00001
NM_003060.4(SLC22A5):c.137C>T (p.Pro46Leu)	rs377767445	0.00001
NM_003060.4(SLC22A5):c.148del (p.Cys50fs)	rs386134227	0.00001
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)	rs727504159	0.00001
NM_003060.4(SLC22A5):c.349T>C (p.Trp117Arg)	rs398123692	0.00001
NM_003060.4(SLC22A5):c.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.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.77G>A (p.Ser26Asn)	rs772578415	0.00001
NM_003060.4(SLC22A5):c.806del (p.Leu269fs)	rs386134204	0.00001
NM_003060.4(SLC22A5):c.83G>T (p.Ser28Ile)	rs72552724	0.00001
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter)	rs386134212	0.00001
NM_003982.4(SLC7A7):c.342C>T (p.Phe114=)	rs777682875	0.00001
NM_003982.4(SLC7A7):c.545dup (p.Val183fs)	rs386833818	0.00001
NM_004006.3(DMD):c.2617T>C (p.Cys873Arg)	rs200872948	0.00001
NM_004453.4(ETFDH):c.1530C>T (p.Pro510=)	rs754795292	0.00001
NM_004525.3(LRP2):c.9342C>T (p.Cys3114=)	rs199803029	0.00001
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser)	rs28939710	0.00001
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys)	rs886041241	0.00001
NM_005957.5(MTHFR):c.1033C>T (p.Arg345Cys)	rs759031330	0.00001
NM_006432.5(NPC2):c.240C>T (p.Gly80=)	rs773836291	0.00001
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys)	rs786205211	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.688G>A (p.Asp230Asn)	rs28940280	0.00001
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys)	rs148862100	0.00001
NM_006516.4(SLC2A1):c.657C>T (p.Asn219=)	rs534113895	0.00001
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter)	rs769256568	0.00001
NM_006623.4(PHGDH):c.357-1G>A	rs766427173	0.00001
NM_006623.4(PHGDH):c.487C>T (p.Arg163Trp)	rs772067625	0.00001
NM_006912.6(RIT1):c.251C>T (p.Ala84Val)	rs869025196	0.00001
NM_006939.4(SOS2):c.1732A>G (p.Lys578Glu)	rs748480687	0.00001
NM_006939.4(SOS2):c.2443A>G (p.Asn815Asp)	rs886041958	0.00001
NM_006939.4(SOS2):c.3026A>G (p.Asn1009Ser)	rs779413196	0.00001
NM_006939.4(SOS2):c.374A>T (p.His125Leu)	rs777300218	0.00001
NM_006939.4(SOS2):c.3772T>G (p.Ser1258Ala)	rs1344396759	0.00001
NM_006939.4(SOS2):c.3782C>G (p.Thr1261Ser)	rs780772018	0.00001
NM_006939.4(SOS2):c.3815G>A (p.Arg1272His)	rs200104745	0.00001
NM_006939.4(SOS2):c.3944C>T (p.Ser1315Leu)	rs865922330	0.00001
NM_012203.2(GRHPR):c.1A>G (p.Met1Val)	rs1554746094	0.00001
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter)	rs1057516910	0.00001
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)	rs769235753	0.00001
NM_012434.5(SLC17A5):c.1272C>A (p.Ile424=)	rs374241516	0.00001
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)	rs1234745577	0.00001
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro)	rs587779410	0.00001
NM_012434.5(SLC17A5):c.573C>G (p.Pro191=)	rs924683894	0.00001
NM_012434.5(SLC17A5):c.819+1G>A	rs1057517028	0.00001
NM_013275.6(ANKRD11):c.5998C>T (p.Leu2000Phe)	rs777086823	0.00001
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)	rs1057517250	0.00001
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)	rs780247476	0.00001
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln)	rs281865119	0.00001
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter)	rs769212398	0.00001
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)	rs762947018	0.00001
NM_014363.6(SACS):c.1728C>T (p.Tyr576=)	rs750748828	0.00001
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe)	rs139805032	0.00001
NM_014363.6(SACS):c.3417C>T (p.His1139=)	rs758862765	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.60C>T (p.Cys20=)	rs932552006	0.00001
NM_014363.6(SACS):c.623G>T (p.Ser208Ile)	rs911764681	0.00001
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter)	rs145766983	0.00001
NM_014363.6(SACS):c.8108G>A (p.Arg2703His)	rs750181262	0.00001
NM_014363.6(SACS):c.814C>T (p.Arg272Cys)	rs374128662	0.00001
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter)	rs886041949	0.00001
NM_014625.4(NPHS2):c.503G>A (p.Arg168His)	rs530318579	0.00001
NM_014625.4(NPHS2):c.535-1G>T	rs1291398331	0.00001
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp)	rs74315348	0.00001
NM_014625.4(NPHS2):c.873+2T>A	rs967339926	0.00001
NM_014795.4(ZEB2):c.1288C>T (p.Pro430Ser)	rs753804606	0.00001
NM_014795.4(ZEB2):c.1446A>C (p.Glu482Asp)	rs886043609	0.00001
NM_014795.4(ZEB2):c.150C>T (p.Asp50=)	rs587780996	0.00001
NM_014795.4(ZEB2):c.179C>T (p.Thr60Met)	rs780890592	0.00001
NM_014795.4(ZEB2):c.1877G>A (p.Gly626Glu)	rs794727923	0.00001
NM_014795.4(ZEB2):c.2226A>T (p.Pro742=)	rs540345773	0.00001
NM_014795.4(ZEB2):c.2352T>C (p.Ser784=)	rs201990887	0.00001
NM_014795.4(ZEB2):c.2390A>G (p.His797Arg)	rs201227541	0.00001
NM_014795.4(ZEB2):c.2497A>G (p.Thr833Ala)	rs1490526407	0.00001
NM_014795.4(ZEB2):c.26G>A (p.Gly9Asp)	rs1242134764	0.00001
NM_014795.4(ZEB2):c.385G>A (p.Ala129Thr)	rs730881187	0.00001
NM_014795.4(ZEB2):c.430T>A (p.Phe144Ile)	rs1057518371	0.00001
NM_014795.4(ZEB2):c.74-3C>T	rs984545941	0.00001
NM_015046.7(SETX):c.2788A>G (p.Ser930Gly)	rs770694223	0.00001
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe)	rs121434380	0.00001
NM_015046.7(SETX):c.7103C>G (p.Pro2368Arg)	rs1420833435	0.00001
NM_015046.7(SETX):c.994C>T (p.Arg332Trp)	rs29001665	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.434dup (p.Ser146fs)	rs768978351	0.00001
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg)	rs955468279	0.00001
NM_015915.5(ATL1):c.921C>T (p.Pro307=)	rs535790981	0.00001
NM_016277.5(RAB23):c.218C>T (p.Ala73Val)	rs556931606	0.00001
NM_017617.5(NOTCH1):c.1000G>A (p.Glu334Lys)	rs779061035	0.00001
NM_017617.5(NOTCH1):c.1094G>A (p.Arg365His)	rs775991013	0.00001
NM_017617.5(NOTCH1):c.1205C>T (p.Ser402Leu)	rs1037236860	0.00001
NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu)	rs754529382	0.00001
NM_017617.5(NOTCH1):c.1237G>A (p.Val413Met)	rs373770404	0.00001
NM_017617.5(NOTCH1):c.123T>C (p.Asn41=)	rs1207676067	0.00001
NM_017617.5(NOTCH1):c.157G>A (p.Val53Met)	rs757497167	0.00001
NM_017617.5(NOTCH1):c.1750G>A (p.Val584Ile)	rs763886355	0.00001
NM_017617.5(NOTCH1):c.1775G>A (p.Arg592His)	rs544117297	0.00001
NM_017617.5(NOTCH1):c.1815C>T (p.Asn605=)	rs781029850	0.00001
NM_017617.5(NOTCH1):c.1924C>G (p.Leu642Val)	rs755740633	0.00001
NM_017617.5(NOTCH1):c.1972A>G (p.Lys658Glu)	rs1260932753	0.00001
NM_017617.5(NOTCH1):c.1977C>A (p.Ile659=)	rs766577980	0.00001
NM_017617.5(NOTCH1):c.2127C>T (p.His709=)	rs755898711	0.00001
NM_017617.5(NOTCH1):c.2175C>T (p.Cys725=)	rs770313470	0.00001
NM_017617.5(NOTCH1):c.2291A>G (p.Asn764Ser)	rs1454630791	0.00001
NM_017617.5(NOTCH1):c.244G>A (p.Val82Met)	rs571831870	0.00001
NM_017617.5(NOTCH1):c.2644G>A (p.Ala882Thr)	rs767886377	0.00001
NM_017617.5(NOTCH1):c.2705G>A (p.Arg902His)	rs373075482	0.00001
NM_017617.5(NOTCH1):c.2753A>G (p.Asn918Ser)	rs367586502	0.00001
NM_017617.5(NOTCH1):c.2916C>T (p.Pro972=)	rs754724517	0.00001
NM_017617.5(NOTCH1):c.3404C>T (p.Ala1135Val)	rs370300490	0.00001
NM_017617.5(NOTCH1):c.3482C>T (p.Thr1161Met)	rs769903954	0.00001
NM_017617.5(NOTCH1):c.3694G>A (p.Val1232Met)	rs750169914	0.00001
NM_017617.5(NOTCH1):c.3954T>A (p.Asn1318Lys)	rs754634957	0.00001
NM_017617.5(NOTCH1):c.3991G>A (p.Gly1331Arg)	rs769908800	0.00001
NM_017617.5(NOTCH1):c.4066C>T (p.Arg1356Cys)	rs587778567	0.00001
NM_017617.5(NOTCH1):c.4309G>A (p.Gly1437Arg)	rs780500109	0.00001
NM_017617.5(NOTCH1):c.4451A>G (p.Asn1484Ser)	rs759828439	0.00001
NM_017617.5(NOTCH1):c.4472C>T (p.Thr1491Met)	rs369915496	0.00001
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val)	rs774374213	0.00001
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val)	rs748862853	0.00001
NM_017617.5(NOTCH1):c.4880G>A (p.Arg1627His)	rs946083212	0.00001
NM_017617.5(NOTCH1):c.5069C>T (p.Ser1690Leu)	rs552065719	0.00001
NM_017617.5(NOTCH1):c.5092G>A (p.Asp1698Asn)	rs1417478070	0.00001
NM_017617.5(NOTCH1):c.5168-5C>T	rs757370134	0.00001
NM_017617.5(NOTCH1):c.5413C>T (p.Leu1805Phe)	rs775497405	0.00001
NM_017617.5(NOTCH1):c.5476G>A (p.Glu1826Lys)	rs374103443	0.00001
NM_017617.5(NOTCH1):c.5495C>G (p.Pro1832Arg)	rs1425070721	0.00001
NM_017617.5(NOTCH1):c.5560C>T (p.Arg1854Cys)	rs376689092	0.00001
NM_017617.5(NOTCH1):c.5572A>C (p.Met1858Leu)	rs779337715	0.00001
NM_017617.5(NOTCH1):c.5690C>T (p.Thr1897Met)	rs746237272	0.00001
NM_017617.5(NOTCH1):c.5784C>T (p.Gly1928=)	rs773571672	0.00001
NM_017617.5(NOTCH1):c.5805C>T (p.Ala1935=)	rs774693459	0.00001
NM_017617.5(NOTCH1):c.581C>T (p.Thr194Ile)	rs760005580	0.00001
NM_017617.5(NOTCH1):c.5972G>A (p.Arg1991His)	rs1371022203	0.00001
NM_017617.5(NOTCH1):c.5981A>G (p.Asp1994Gly)	rs1454512890	0.00001
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr)	rs567909904	0.00001
NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser)	rs1401319182	0.00001
NM_017617.5(NOTCH1):c.6422C>T (p.Ser2141Leu)	rs767822693	0.00001
NM_017617.5(NOTCH1):c.6582C>T (p.Ser2194=)	rs200853719	0.00001
NM_017617.5(NOTCH1):c.6593C>T (p.Ser2198Leu)	rs761562076	0.00001
NM_017617.5(NOTCH1):c.674C>G (p.Ser225Trp)	rs553542677	0.00001
NM_017617.5(NOTCH1):c.6781G>T (p.Gly2261Cys)	rs768817065	0.00001
NM_017617.5(NOTCH1):c.6789G>C (p.Arg2263=)	rs1367699274	0.00001
NM_017617.5(NOTCH1):c.6895G>A (p.Gly2299Ser)	rs1020747496	0.00001
NM_017617.5(NOTCH1):c.7047G>A (p.Pro2349=)	rs775336930	0.00001
NM_017617.5(NOTCH1):c.707C>T (p.Thr236Met)	rs537766290	0.00001
NM_017617.5(NOTCH1):c.7128G>T (p.Gln2376His)	rs369935287	0.00001
NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met)	rs769693988	0.00001
NM_017617.5(NOTCH1):c.7150C>G (p.Gln2384Glu)	rs375119074	0.00001
NM_017617.5(NOTCH1):c.7157A>G (p.Gln2386Arg)	rs746658493	0.00001
NM_017617.5(NOTCH1):c.7189C>T (p.Leu2397=)	rs374789141	0.00001
NM_017617.5(NOTCH1):c.7291C>T (p.Arg2431Trp)	rs758410389	0.00001
NM_017617.5(NOTCH1):c.751G>A (p.Gly251Ser)	rs755667439	0.00001
NM_017617.5(NOTCH1):c.7642G>A (p.Ala2548Thr)	rs761156723	0.00001
NM_017617.5(NOTCH1):c.949G>A (p.Gly317Ser)	rs749696049	0.00001
NM_018122.5(DARS2):c.1825C>T (p.Arg609Trp)	rs200670286	0.00001
NM_018136.5(ASPM):c.10060C>T (p.Arg3354Ter)	rs748529285	0.00001
NM_018136.5(ASPM):c.2419+2T>C	rs587783225	0.00001
NM_018136.5(ASPM):c.2488-1G>C	rs1321892596	0.00001
NM_018136.5(ASPM):c.7324C>T (p.Arg2442Ter)	rs769364943	0.00001
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter)	rs199422194	0.00001
NM_020822.3(KCNT1):c.1963G>A (p.Glu655Lys)	rs770039542	0.00001
NM_020822.3(KCNT1):c.2062G>A (p.Gly688Ser)	rs570983410	0.00001
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter)	rs780011606	0.00001
NM_022356.4(P3H1):c.1096C>T (p.Arg366Ter)	rs752575140	0.00001
NM_022455.5(NSD1):c.4883T>C (p.Met1628Thr)	rs530920626	0.00001
NM_022455.5(NSD1):c.4966+15T>C	rs587784130	0.00001
NM_024301.5(FKRP):c.854A>C (p.Glu285Ala)	rs963039919	0.00001
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp)	rs373905859	0.00001
NM_025099.6(CTC1):c.775G>A (p.Val259Met)	rs387907080	0.00001
NM_025137.4(SPG11):c.1763A>G (p.Asp588Gly)	rs763060505	0.00001
NM_025137.4(SPG11):c.2857G>T (p.Glu953Ter)	rs372906057	0.00001
NM_025137.4(SPG11):c.4075del (p.Ile1359fs)	rs1405032433	0.00001
NM_025137.4(SPG11):c.4161+9C>G	rs1555451101	0.00001
NM_025137.4(SPG11):c.5392G>A (p.Glu1798Lys)	rs201254271	0.00001
NM_025137.4(SPG11):c.5595A>G (p.Thr1865=)	rs375403626	0.00001
NM_025137.4(SPG11):c.5598C>T (p.Cys1866=)	rs570599267	0.00001
NM_025137.4(SPG11):c.5972del (p.Cys1991fs)	rs2082503070	0.00001
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter)	rs769898852	0.00001
NM_025137.4(SPG11):c.6726A>G (p.Gln2242=)	rs376245210	0.00001
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro)	rs371334506	0.00001
NM_025137.4(SPG11):c.7258T>A (p.Phe2420Ile)	rs779900397	0.00001
NM_025137.4(SPG11):c.789A>G (p.Lys263=)	rs764439012	0.00001
NM_032520.5(GNPTG):c.233+1G>A	rs376679416	0.00001
NM_032520.5(GNPTG):c.297C>T (p.Asn99=)	rs201045559	0.00001
NM_032520.5(GNPTG):c.29T>A (p.Leu10Ter)	rs1555450681	0.00001
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)	rs387907236	0.00001
NM_032861.4(SERAC1):c.916C>T (p.Arg306Ter)	rs780664696	0.00001
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=)	rs555179389	0.00001
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=)	rs571024836	0.00001
NM_133433.4(NIPBL):c.3660G>A (p.Ala1220=)	rs143252734	0.00001
NM_133433.4(NIPBL):c.5979C>T (p.Asp1993=)	rs761030463	0.00001
NM_133433.4(NIPBL):c.7641C>T (p.Leu2547=)	rs587784046	0.00001
NM_138694.4(PKHD1):c.881-1G>A	rs1554220431	0.00001
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter)	rs398124503	0.00001
NM_152296.5(ATP1A3):c.1080G>A (p.Thr360=)	rs370511776	0.00001
NM_152296.5(ATP1A3):c.1905C>T (p.Ala635=)	rs781822752	0.00001
NM_152564.5(VPS13B):c.9603A>G (p.Gly3201=)	rs564362618	0.00001
NM_177550.5(SLC13A5):c.1022G>A (p.Trp341Ter)	rs150203483	0.00001
NM_177550.5(SLC13A5):c.1037G>T (p.Trp346Leu)	rs746999375	0.00001
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met)	rs761917087	0.00001
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp)	rs137852846	0.00001
NM_182760.4(SUMF1):c.447T>C (p.Ala149=)	rs750372409	0.00001
NM_182760.4(SUMF1):c.45G>A (p.Glu15=)	rs1460272243	0.00001
NM_183050.4(BCKDHB):c.1087T>A (p.Tyr363Asn)	rs398124565	0.00001
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter)	rs751599203	0.00001
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp)	rs398124571	0.00001
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val)	rs776631396	0.00001
NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala)	rs398124593	0.00001
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter)	rs398124594	0.00001
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter)	rs398124603	0.00001
NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro)	rs769909288	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_206933.4(USH2A):c.1047T>C (p.Asp349=)	rs775053681	0.00001
NM_206933.4(USH2A):c.10525A>T (p.Lys3509Ter)	rs944675223	0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)	rs202175091	0.00001
NM_206933.4(USH2A):c.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.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.14546G>A (p.Trp4849Ter)	rs1656936749	0.00001
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)	rs397517994	0.00001
NM_206933.4(USH2A):c.15200del (p.Ile5067fs)	rs1295968274	0.00001
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)	rs483353054	0.00001
NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter)	rs886039449	0.00001
NM_206933.4(USH2A):c.2617G>A (p.Gly873Arg)	rs1037325220	0.00001
NM_206933.4(USH2A):c.4384A>C (p.Thr1462Pro)	rs757315203	0.00001
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter)	rs745350407	0.00001
NM_206933.4(USH2A):c.5083del (p.Ser1695fs)	rs1553300016	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.8232G>C (p.Trp2744Cys)	rs1424639717	0.00001
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)	rs201863550	0.00001
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter)	rs1064797134	0.00001
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)	rs397518041	0.00001
NM_206933.4(USH2A):c.9258+1G>A	rs748810737	0.00001
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter)	rs772100045	0.00001
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)	rs111033263	0.00001
NM_206933.4(USH2A):c.99_100insT (p.Arg34fs)	rs141672841	0.00001
NM_000017.4(ACADS):c.1054G>A (p.Ala352Thr)	rs202078273
NM_000017.4(ACADS):c.1153G>T (p.Ala385Ser)	rs202124189
NM_000017.4(ACADS):c.1A>G (p.Met1Val)	rs1291226969
NM_000017.4(ACADS):c.328G>A (p.Ala110Thr)	rs780571371
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro)	rs777002501
NM_000017.4(ACADS):c.682_683del (p.Glu228fs)	rs786204691
NM_000017.4(ACADS):c.910dup (p.Leu304fs)	rs1057516606
NM_000018.4(ACADVL):c.1215C>T (p.Asp405=)	rs2071338251
NM_000018.4(ACADVL):c.1881G>A (p.Gln627=)	rs931018661
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)	rs796051913
NM_000022.4(ADA):c.201C>G (p.Tyr67Ter)	rs1419063255
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.445C>A (p.Arg149=)	rs121908733
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer)	rs886041796
NM_000022.4(ADA):c.577dup (p.Leu193fs)	rs759445496
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.956_960del (p.Glu319fs)	rs771266745
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter)	rs763372958
NM_000023.4(SGCA):c.203del (p.Gly68fs)	rs1567739228
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe)	rs1555568335
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)
NM_000023.4(SGCA):c.391del (p.Leu131fs)	rs144356125
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter)	rs886043221
NM_000023.4(SGCA):c.464del (p.Ser155fs)	rs1555568775
NM_000023.4(SGCA):c.488dup (p.Leu164fs)	rs763986788
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)	rs200166783
NM_000023.4(SGCA):c.747+1G>A	rs886043392
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=)	rs782250326
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)	rs886044777
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro)	rs1557054173
NM_000033.4(ABCD1):c.1237G>C (p.Ala413Pro)	rs1569541011
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp)	rs128624220
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)	rs128624221
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)	rs1569541088
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)	rs128624224
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro)	rs2091762647
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu)	rs1557054776
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp)	rs398123106
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro)	rs201774661
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp)	rs78993751
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)	rs4010613
NM_000033.4(ABCD1):c.1866-10G>A	rs398123108
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr)	rs1557055316
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr)	rs782041940
NM_000033.4(ABCD1):c.1912G>C (p.Asp638His)	rs886044887
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)	rs1557055340
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del)	rs1569540680
NM_000033.4(ABCD1):c.311G>A (p.Arg104His)	rs1557052302
NM_000033.4(ABCD1):c.452T>C (p.Ile151Thr)	rs1569540692
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys)	rs1569540693
NM_000033.4(ABCD1):c.498_520del (p.Val167fs)	rs398123112
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser)	rs1557052390
NM_000033.4(ABCD1):c.524T>A (p.Phe175Tyr)	rs1569540700
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.653C>T (p.Pro218Leu)	rs1569540710
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val)	rs2091709505
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr)	rs782487174
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met)	rs1131691743
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)	rs193922098
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)	rs781904944
NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro)	rs781904944
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr)	rs1131691954
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys)	rs797044610
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser)	rs1603232243
NM_000035.4(ALDOB):c.282C>T (p.Phe94=)	rs549682194
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del)	rs550086186
NM_000048.4(ASL):c.1095C>T (p.Ser365=)	rs749559501
NM_000049.4(ASPA):c.244dup (p.Met82fs)	rs756198538
NM_000049.4(ASPA):c.340G>T (p.Asp114Tyr)	rs1446467099
NM_000049.4(ASPA):c.427A>T (p.Ile143Phe)	rs199565861
NM_000049.4(ASPA):c.437_449del (p.Ser146fs)	rs2073669074
NM_000049.4(ASPA):c.831del (p.Val278fs)	rs1555541304
NM_000049.4(ASPA):c.876_879del (p.Glu293fs)	rs766720790
NM_000049.4(ASPA):c.89T>C (p.Leu30Pro)	rs1555538144
NM_000051.4(ATM):c.1880dup (p.Gln628fs)	rs786202474
NM_000051.4(ATM):c.3285-9del	rs1799757
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser)	rs786203311
NM_000053.4(ATP7B):c.1063C>T (p.Gln355Ter)	rs778490238
NM_000053.4(ATP7B):c.1073del (p.Cys358fs)	rs1951985366
NM_000053.4(ATP7B):c.1158_1159del (p.Val387fs)	rs1593787789
NM_000053.4(ATP7B):c.1216T>A (p.Ser406Thr)	rs1801243
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter)	rs778675259
NM_000053.4(ATP7B):c.1543+1G>T	rs1360279134
NM_000053.4(ATP7B):c.1707+2dup	rs781531824
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer)	rs1057516893
NM_000053.4(ATP7B):c.1739del (p.His580fs)	rs1555293357
NM_000053.4(ATP7B):c.174dup (p.Thr59fs)	rs1057516561
NM_000053.4(ATP7B):c.1782del (p.Thr593_Tyr594insTer)	rs780327716
NM_000053.4(ATP7B):c.1869+2T>C	rs2139767694
NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr)	rs72552285
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs)	rs749363958
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.2121+3A>G	rs1248002612
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala)	rs1555291285
NM_000053.4(ATP7B):c.2131G>A (p.Gly711Arg)	rs1394999756
NM_000053.4(ATP7B):c.2157C>A (p.Tyr719Ter)	rs1057516380
NM_000053.4(ATP7B):c.2227del (p.Tyr743fs)	rs1958499462
NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro)	rs1593726081
NM_000053.4(ATP7B):c.2233_2234del (p.Leu745fs)	rs1555291195
NM_000053.4(ATP7B):c.2286A>T (p.Thr762=)	rs750477816
NM_000053.4(ATP7B):c.2297C>G (p.Thr766Arg)	rs121907997
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.2447+1G>T	rs1958431105
NM_000053.4(ATP7B):c.2510dup (p.Phe839fs)	rs964976261
NM_000053.4(ATP7B):c.2532del (p.Val845fs)	rs755709270
NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly)	rs752634617
NM_000053.4(ATP7B):c.2575+1G>A	rs766149114
NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro)	rs1455758826
NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile)	rs1340729837
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn)	rs540935874
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)	rs121907993
NM_000053.4(ATP7B):c.2810del (p.Val937fs)	rs1057516643
NM_000053.4(ATP7B):c.2826_2832del (p.Gly943fs)	rs1555288385
NM_000053.4(ATP7B):c.2866-2del	rs1593681941
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=)	rs746358240
NM_000053.4(ATP7B):c.2997C>T (p.Thr999=)	rs199581971
NM_000053.4(ATP7B):c.3011A>C (p.Gln1004Pro)	rs587783307
NM_000053.4(ATP7B):c.3029A>C (p.Lys1010Thr)	rs747584649
NM_000053.4(ATP7B):c.3036dup (p.Lys1013fs)	rs1555287300
NM_000053.4(ATP7B):c.3062T>A (p.Ile1021Lys)	rs949421614
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.3190G>A (p.Glu1064Lys)	rs376910645
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly)	rs1555286478
NM_000053.4(ATP7B):c.3236G>T (p.Cys1079Phe)	rs1064797072
NM_000053.4(ATP7B):c.3237T>A (p.Cys1079Ter)	rs1957506216
NM_000053.4(ATP7B):c.3244-2A>G	rs786204584
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe)	rs1286080173
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr)	rs778825095
NM_000053.4(ATP7B):c.3284A>C (p.Gln1095Pro)	rs1555285891
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg)	rs786204483
NM_000053.4(ATP7B):c.3350_3353del (p.Glu1117fs)	rs1555285830
NM_000053.4(ATP7B):c.3449del (p.Asn1150fs)	rs1555285380
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter)	rs1057516479
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly)	rs587783315
NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=)	rs377267217
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.3664del (p.Asp1222fs)	rs886042519
NM_000053.4(ATP7B):c.3722C>T (p.Ala1241Val)	rs1555283994
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln)	rs758355520
NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly)	rs778914828
NM_000053.4(ATP7B):c.3852_3875del (p.Gly1285_Ile1292del)	rs1555283826
NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg)	rs373748155
NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val)	rs1340942427
NM_000053.4(ATP7B):c.388_389dup (p.Ala131fs)	rs1057517384
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe)	rs749472361
NM_000053.4(ATP7B):c.3895del (p.Ile1300fs)	rs1957038706
NM_000053.4(ATP7B):c.3904-2del	rs1957032734
NM_000053.4(ATP7B):c.3960G>C (p.Arg1320Ser)	rs778732681
NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs)	rs1566441447
NM_000053.4(ATP7B):c.4063G>A (p.Gly1355Ser)	rs1555282751
NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly)	rs557577836
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe)	rs776848753
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs)	rs771603301
NM_000053.4(ATP7B):c.4112T>C (p.Leu1371Pro)	rs1444841250
NM_000053.4(ATP7B):c.4125-1G>T	rs1293549383
NM_000053.4(ATP7B):c.4144G>T (p.Glu1382Ter)	rs2138414735
NM_000053.4(ATP7B):c.4185G>C (p.Leu1395=)	rs368801566
NM_000053.4(ATP7B):c.4195del (p.Gln1399fs)	rs886041336
NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs)	rs1555282191
NM_000053.4(ATP7B):c.432G>T (p.Val144=)	rs2140102093
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs)	rs558037268
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.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_000069.3(CACNA1S):c.1401_1414del (p.Asn468fs)	rs2102144416
NM_000069.3(CACNA1S):c.1547C>T (p.Ser516Leu)	rs140662085
NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=)	rs143999390
NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter)	rs1572048220
NM_000069.3(CACNA1S):c.2454G>A (p.Ala818=)	rs141619541
NM_000069.3(CACNA1S):c.2454G>T (p.Ala818=)	rs141619541
NM_000069.3(CACNA1S):c.2647A>C (p.Met883Leu)	rs553593355
NM_000069.3(CACNA1S):c.2690G>C (p.Arg897Thr)	rs1287079817
NM_000069.3(CACNA1S):c.2746-16G>A	rs531717137
NM_000069.3(CACNA1S):c.2812del (p.Leu938fs)	rs1572038993
NM_000069.3(CACNA1S):c.2979C>A (p.Ser993Arg)	rs146497999
NM_000069.3(CACNA1S):c.3861+14G>T	rs200654730
NM_000069.3(CACNA1S):c.3953+14G>A	rs201077181
NM_000069.3(CACNA1S):c.4113+1G>A	rs1558056376
NM_000069.3(CACNA1S):c.4543+2T>C	rs1572023336
NM_000069.3(CACNA1S):c.5299C>T (p.Pro1767Ser)	rs200434921
NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs)	rs554596425
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp)	rs35534614
NM_000071.3(CBS):c.753G>T (p.Leu251=)	rs2146375662
NM_000091.5(COL4A3):c.1175G>A (p.Gly392Glu)	rs1114167371
NM_000093.5(COL5A1):c.1590C>T (p.Gly530=)	rs769010469
NM_000093.5(COL5A1):c.1977C>T (p.Asp659=)	rs370766020
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs)	rs397509431
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.1883A>C (p.Tyr628Ser)	rs28936673
NM_000110.4(DPYD):c.1109_1110del (p.Ile370fs)	rs749571474
NM_000117.3(EMD):c.285T>C (p.Tyr95=)	rs2148128483
NM_000133.4(F9):c.224G>A (p.Arg75Gln)	rs137852228
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile)	rs536839082
NM_000137.4(FAH):c.615del (p.Phe205fs)	rs1057517084
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)	rs1555600061
NM_000152.5(GAA):c.1219T>C (p.Tyr407His)	rs727503939
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn)	rs535644999
NM_000152.5(GAA):c.1375G>C (p.Asp459His)	rs535644999
NM_000152.5(GAA):c.1416C>G (p.Thr472=)	rs368492669
NM_000152.5(GAA):c.1434G>A (p.Gly478=)	rs886043285
NM_000152.5(GAA):c.1626C>G (p.Pro542=)	rs947585663
NM_000152.5(GAA):c.1642G>T (p.Val548Phe)	rs1567834141
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)	rs747150965
NM_000152.5(GAA):c.1722C>T (p.Leu574=)	rs561357893
NM_000152.5(GAA):c.1734C>T (p.Thr578=)	rs149384771
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)	rs369531647
NM_000152.5(GAA):c.1851G>A (p.Val617=)	rs886042906
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe)	rs1024137874
NM_000152.5(GAA):c.1889-5C>T	rs794727115
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys)	rs1555601633
NM_000152.5(GAA):c.2064C>T (p.Ser688=)	rs140996643
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro)	rs398123172
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)	rs143324027
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)	rs1479740763
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu)	rs752921215
NM_000152.5(GAA):c.2647-71G>C	rs4889821
NM_000152.5(GAA):c.2790C>T (p.Pro930=)	rs2039418269
NM_000152.5(GAA):c.2800-15CT[3]	rs770227589
NM_000152.5(GAA):c.2800-9C>G	rs886053547
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del)	rs1555598888
NM_000152.5(GAA):c.531C>T (p.Asn177=)	rs886053544
NM_000152.5(GAA):c.546+5G>T	rs756024023
NM_000152.5(GAA):c.750C>T (p.Thr250=)	rs2143846283
NM_000152.5(GAA):c.794G>A (p.Ser265Asn)	rs772002851
NM_000152.5(GAA):c.858+10C>T	rs758283022
NM_000152.5(GAA):c.953T>A (p.Met318Lys)	rs121907936
NM_000153.4(GALC):c.41C>G (p.Ala14Gly)	rs373587692
NM_000154.2(GALK1):c.321C>T (p.Ala107=)	rs771880802
NM_000155.4(GALT):c.630G>A (p.Lys210=)	rs367543260
NM_000169.3(GLA):c.1018T>C (p.Trp340Arg)	rs1555984869
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)	rs869312162
NM_000169.3(GLA):c.1057_1058del (p.Met353fs)	rs886044829
NM_000169.3(GLA):c.1066C>T (p.Arg356Trp)	rs104894827
NM_000169.3(GLA):c.1085C>T (p.Pro362Leu)	rs730880441
NM_000169.3(GLA):c.109G>C (p.Ala37Pro)	rs869312226
NM_000169.3(GLA):c.1102G>C (p.Ala368Pro)	rs144994244
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser)	rs727504348
NM_000169.3(GLA):c.1157A>C (p.Gln386Pro)	rs797044775
NM_000169.3(GLA):c.119C>T (p.Pro40Leu)	rs398123199
NM_000169.3(GLA):c.1235_1236del (p.Thr412fs)	rs797044777
NM_000169.3(GLA):c.128del (p.Gly43fs)	rs797044500
NM_000169.3(GLA):c.132G>T (p.Trp44Cys)	rs398123202
NM_000169.3(GLA):c.153G>A (p.Met51Ile)	rs869312255
NM_000169.3(GLA):c.239G>A (p.Gly80Asp)	rs781838005
NM_000169.3(GLA):c.265C>T (p.Leu89Phe)	rs1555986305
NM_000169.3(GLA):c.274G>T (p.Asp92Tyr)	rs886041315
NM_000169.3(GLA):c.290C>T (p.Ala97Val)	rs1569304867
NM_000169.3(GLA):c.337T>C (p.Phe113Leu)	rs869312142
NM_000169.3(GLA):c.369+5G>T	rs398123209
NM_000169.3(GLA):c.386T>C (p.Leu129Pro)	rs727503072
NM_000169.3(GLA):c.400T>G (p.Tyr134Asp)	rs727503951
NM_000169.3(GLA):c.422C>T (p.Thr141Ile)	rs886044843
NM_000169.3(GLA):c.427G>C (p.Ala143Pro)	rs104894845
NM_000169.3(GLA):c.490G>T (p.Val164Leu)	rs869312144
NM_000169.3(GLA):c.525C>G (p.Asp175Glu)	rs782722844
NM_000169.3(GLA):c.547G>A (p.Gly183Ser)	rs869312324
NM_000169.3(GLA):c.59_72dup (p.Asp25fs)	rs1555987175
NM_000169.3(GLA):c.604T>C (p.Cys202Arg)	rs1569303843
NM_000169.3(GLA):c.605G>A (p.Cys202Tyr)	rs869312344
NM_000169.3(GLA):c.607G>A (p.Glu203Lys)	rs869312345
NM_000169.3(GLA):c.613C>A (p.Pro205Thr)	rs397515870
NM_000169.3(GLA):c.692A>C (p.Asp231Ala)	rs1569303295
NM_000169.3(GLA):c.713G>A (p.Ser238Asn)	rs730880450
NM_000169.3(GLA):c.758T>C (p.Ile253Thr)	rs727505292
NM_000169.3(GLA):c.770C>T (p.Ala257Val)	rs1569303218
NM_000169.3(GLA):c.776C>G (p.Pro259Arg)	rs869312399
NM_000169.3(GLA):c.782G>T (p.Gly261Val)	rs869312401
NM_000169.3(GLA):c.791A>T (p.Asp264Val)	rs28935486
NM_000169.3(GLA):c.801G>A (p.Met267Ile)	rs730880451
NM_000169.3(GLA):c.824_825del (p.Leu275fs)	rs1928173731
NM_000169.3(GLA):c.842_844del (p.Val281_Thr282delinsAla)	rs1555985004
NM_000169.3(GLA):c.848dup (p.Met284fs)	rs1555985002
NM_000169.3(GLA):c.886A>G (p.Met296Val)	rs104894830
NM_000169.3(GLA):c.899T>C (p.Leu300Pro)	rs398123223
NM_000169.3(GLA):c.901C>G (p.Arg301Gly)	rs398123224
NM_000169.3(GLA):c.966C>A (p.Asp322Glu)	rs398123226
NM_000169.3(GLA):c.973G>A (p.Gly325Ser)	rs398123227
NM_000169.3(GLA):c.974G>A (p.Gly325Asp)	rs398123228
NM_000169.3(GLA):c.982G>C (p.Gly328Arg)	rs104894832
NM_000170.3(GLDC):c.1738C>G (p.His580Asp)	rs1164241828
NM_000170.3(GLDC):c.2316-6dup	rs3215923
NM_000186.4(CFH):c.245-9del	rs35507625
NM_000186.4(CFH):c.245-9dup	rs35507625
NM_000186.4(CFH):c.2783-3dup	rs748791414
NM_000186.4(CFH):c.350+15C>T	rs190197472
NM_000186.4(CFH):c.7C>G (p.Leu3Val)	rs139254423
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs)	rs752137615
NM_000191.3(HMGCL):c.230del (p.Val77fs)	rs1638632303
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter)	rs890995574
NM_000191.3(HMGCL):c.795C>G (p.Gly265=)	rs1488079271
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)	rs786205431
NM_000199.5(SGSH):c.111T>A (p.Ser37Arg)	rs1434209913
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg)	rs398123244
NM_000199.5(SGSH):c.1159G>A (p.Val387Met)	rs62620232
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn)	rs1064794815
NM_000199.5(SGSH):c.1241_1244dup (p.Thr416fs)	rs1412408576
NM_000199.5(SGSH):c.1316A>G (p.Tyr439Cys)	rs900198526
NM_000199.5(SGSH):c.1380del (p.Leu461fs)	rs1555620092
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg)	rs1131691434
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg)	rs774010006
NM_000199.5(SGSH):c.437T>C (p.Leu146Pro)	rs749358773
NM_000199.5(SGSH):c.506+13G>T	rs201177560
NM_000199.5(SGSH):c.542A>G (p.His181Arg)	rs776228545
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro)	rs104894643
NM_000199.5(SGSH):c.637C>A (p.Gln213Lys)	rs200644359
NM_000199.5(SGSH):c.658G>T (p.Val220Leu)	rs150508741
NM_000199.5(SGSH):c.673T>C (p.Phe225Leu)	rs1057521801
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu)	rs34520362
NM_000199.5(SGSH):c.734G>T (p.Arg245Leu)	rs104894635
NM_000199.5(SGSH):c.89-18_89-15del	rs768357480
NM_000199.5(SGSH):c.927C>G (p.Ser309Arg)	rs1385473515
NM_000199.5(SGSH):c.952C>A (p.Leu318Ile)	rs747197522
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala)	rs758756630
NM_000199.5(SGSH):c.981G>A (p.Ser327=)	rs143223388
NM_000202.8(IDS):c.1006+1G>A	rs869025308
NM_000202.8(IDS):c.1122C>T (p.Gly374=)	rs113993948
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg)	rs199422229
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr)	rs886044835
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp)	rs199422231
NM_000202.8(IDS):c.1497T>G (p.Tyr499Ter)	rs2089304408
NM_000202.8(IDS):c.1505G>A (p.Trp502Ter)	rs199422228
NM_000202.8(IDS):c.1561G>A (p.Glu521Lys)	rs2124648301
NM_000202.8(IDS):c.1591C>T (p.Gln531Ter)	rs886044837
NM_000202.8(IDS):c.181T>C (p.Ser61Pro)	rs113993955
NM_000202.8(IDS):c.187A>G (p.Asn63Asp)	rs193302909
NM_000202.8(IDS):c.253G>A (p.Ala85Thr)	rs113993949
NM_000202.8(IDS):c.263G>A (p.Arg88His)	rs2089497431
NM_000202.8(IDS):c.419-1G>A	rs1557339927
NM_000202.8(IDS):c.514C>T (p.Arg172Ter)	rs104894860
NM_000202.8(IDS):c.592G>A (p.Asp198Asn)	rs193302904
NM_000202.8(IDS):c.670G>A (p.Gly224Arg)	rs2089450754
NM_000202.8(IDS):c.692C>G (p.Pro231Arg)	rs2089450305
NM_000202.8(IDS):c.998C>T (p.Ser333Leu)	rs104894853
NM_000206.3(IL2RG):c.318A>G (p.Leu106=)	rs1389116834
NM_000235.4(LIPA):c.615C>T (p.Ser205=)	rs143930279
NM_000243.3(MEFV):c.1092G>A (p.Pro364=)	rs11466022
NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu)	rs11466024
NM_000243.3(MEFV):c.1352T>G (p.Phe451Cys)	rs1958986915
NM_000243.3(MEFV):c.1368A>C (p.Glu456Asp)	rs1567233429
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr)	rs104895105
NM_000243.3(MEFV):c.1459G>A (p.Val487Met)	rs104895100
NM_000243.3(MEFV):c.1538T>C (p.Ile513Thr)	rs104895199
NM_000243.3(MEFV):c.1759+11C>T	rs370349451
NM_000243.3(MEFV):c.201_202delinsTT (p.Gln68Ter)	rs1959115695
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)	rs28940580
NM_000243.3(MEFV):c.2044_2045del (p.Leu682fs)	rs1355225244
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	rs61732874
NM_000243.3(MEFV):c.2287G>A (p.Gly763Arg)	rs2141664466
NM_000243.3(MEFV):c.342G>A (p.Lys114=)	rs981883034
NM_000243.3(MEFV):c.410del (p.Gly137fs)	rs767006697
NM_000243.3(MEFV):c.414A>T (p.Gly138=)	rs224224
NM_000243.3(MEFV):c.548C>T (p.Pro183Leu)	rs777009752
NM_000243.3(MEFV):c.564C>G (p.Pro188=)	rs775755423
NM_000243.3(MEFV):c.564C>T (p.Pro188=)	rs775755423
NM_000243.3(MEFV):c.751G>A (p.Glu251Lys)	rs104895111
NM_000268.4(NF2):c.1127G>A (p.Arg376Gln)	rs996964764
NM_000268.4(NF2):c.1450A>G (p.Met484Val)	rs1182896077
NM_000268.4(NF2):c.150G>A (p.Val50=)	rs1601578932
NM_000268.4(NF2):c.1550T>C (p.Leu517Pro)	rs1556002568
NM_000268.4(NF2):c.1739_1747del (p.Leu580_Leu582del)	rs1060503674
NM_000268.4(NF2):c.1762C>T (p.Arg588Ter)	rs1341371726
NM_000268.4(NF2):c.1A>G (p.Met1Val)	rs1319282473
NM_000268.4(NF2):c.345A>T (p.Gln115His)	rs746369012
NM_000268.4(NF2):c.599+5G>A	rs1601613749
NM_000268.4(NF2):c.641T>C (p.Leu214Pro)	rs1601618585
NM_000268.4(NF2):c.904G>A (p.Gly302Arg)	rs1255367068
NM_000271.5(NPC1):c.839del (p.Leu280fs)	rs1057518711
NM_000275.3(OCA2):c.2208G>T (p.Ser736=)	rs1800418
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal)	rs797044784
NM_000277.3(PAH):c.305T>C (p.Ile102Thr)	rs62508591
NM_000277.3(PAH):c.529G>A (p.Val177Met)	rs199475602
NM_000277.3(PAH):c.620A>G (p.Asn207Ser)	rs62508721
NM_000277.3(PAH):c.931_932del (p.Leu311fs)	rs281865430
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly)	rs146927771
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.238A>G (p.Met80Val)	rs1057517810
NM_000317.3(PTS):c.340A>G (p.Ile114Val)	rs1555198495
NM_000317.3(PTS):c.393del (p.Val132fs)	rs780332520
NM_000317.3(PTS):c.400G>T (p.Glu134Ter)	rs779681799
NM_000337.6(SGCD):c.105G>C (p.Leu35=)	rs193922392
NM_000337.6(SGCD):c.390del (p.Ala131fs)	rs397517921
NM_000337.6(SGCD):c.699+13_699+15del	rs397517924
NM_000341.4(SLC3A1):c.1854G>A (p.Met618Ile)	rs698761
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.1187G>T (p.Arg396Leu)	rs121918721
NM_000359.3(TGM1):c.400T>C (p.Tyr134His)	rs1230140208
NM_000359.3(TGM1):c.679C>T (p.Gln227Ter)	rs972054392
NM_000359.3(TGM1):c.919C>T (p.Arg307Trp)	rs121918731
NM_000368.5(TSC1):c.1026A>G (p.Pro342=)	rs1588324071
NM_000368.5(TSC1):c.1063A>G (p.Met355Val)	rs1302832406
NM_000368.5(TSC1):c.107-1G>A	rs1064793494
NM_000368.5(TSC1):c.109C>A (p.Arg37Ser)	rs1309560054
NM_000368.5(TSC1):c.1113C>A (p.His371Gln)	rs771217333
NM_000368.5(TSC1):c.1167A>T (p.Gly389=)	rs876660723
NM_000368.5(TSC1):c.1209G>T (p.Ser403=)	rs141184479
NM_000368.5(TSC1):c.121C>A (p.Leu41Ile)	rs118203334
NM_000368.5(TSC1):c.1250C>A (p.Thr417Lys)	rs77464996
NM_000368.5(TSC1):c.1256C>A (p.Pro419His)	rs878853959
NM_000368.5(TSC1):c.1257C>A (p.Pro419=)	rs369642207
NM_000368.5(TSC1):c.1296A>C (p.Leu432=)	rs1554816406
NM_000368.5(TSC1):c.12A>G (p.Gln4=)	rs1588363707
NM_000368.5(TSC1):c.1327G>A (p.Gly443Arg)	rs760470520
NM_000368.5(TSC1):c.1332A>C (p.Ser444=)	rs773003016
NM_000368.5(TSC1):c.1333+9T>A	rs747629498
NM_000368.5(TSC1):c.1338G>A (p.Glu446=)	rs1410493156
NM_000368.5(TSC1):c.134T>C (p.Leu45Ser)	rs1554820662
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter)	rs118203537
NM_000368.5(TSC1):c.1503A>C (p.Gly501=)	rs201810746
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)	rs118203542
NM_000368.5(TSC1):c.1563G>A (p.Ser521=)	rs1554816005
NM_000368.5(TSC1):c.1569C>T (p.Ala523=)	rs1234835402
NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter)	rs118203549
NM_000368.5(TSC1):c.1582_1602del (p.Gly528_Glu534del)	rs766376606
NM_000368.5(TSC1):c.1594A>T (p.Asn532Tyr)	rs765149885
NM_000368.5(TSC1):c.1611C>T (p.His537=)	rs898271020
NM_000368.5(TSC1):c.1679G>A (p.Gly560Asp)	rs1395737285
NM_000368.5(TSC1):c.171A>G (p.Ala57=)	rs1060504853
NM_000368.5(TSC1):c.1720A>G (p.Thr574Ala)	rs1454859974
NM_000368.5(TSC1):c.1721C>T (p.Thr574Ile)	rs548002938
NM_000368.5(TSC1):c.1734C>T (p.Thr578=)	rs1251871091
NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile)	rs886063623
NM_000368.5(TSC1):c.1749C>T (p.Pro583=)	rs876659216
NM_000368.5(TSC1):c.1751G>C (p.Ser584Thr)	rs786203799
NM_000368.5(TSC1):c.1772C>A (p.Pro591Gln)	rs768985094
NM_000368.5(TSC1):c.186C>G (p.Thr62=)	rs1554820640
NM_000368.5(TSC1):c.1874A>C (p.Glu625Ala)	rs886038287
NM_000368.5(TSC1):c.1916G>A (p.Gly639Asp)	rs372583166
NM_000368.5(TSC1):c.1974C>G (p.Asp658Glu)	rs118203608
NM_000368.5(TSC1):c.2022C>G (p.Val674=)	rs118203618
NM_000368.5(TSC1):c.2022C>T (p.Val674=)	rs118203618
NM_000368.5(TSC1):c.2041+5del	rs1564479424
NM_000368.5(TSC1):c.2042-5A>G	rs118203627
NM_000368.5(TSC1):c.2057A>G (p.Asp686Gly)	rs786201465
NM_000368.5(TSC1):c.2103G>A (p.Gln701=)	rs118203639
NM_000368.5(TSC1):c.2111A>G (p.Tyr704Cys)	rs752054698
NM_000368.5(TSC1):c.2117G>A (p.Arg706His)	rs1588304158
NM_000368.5(TSC1):c.2149A>C (p.Arg717=)	rs1057523194
NM_000368.5(TSC1):c.2162G>A (p.Arg721His)	rs769566267
NM_000368.5(TSC1):c.21C>T (p.Val7=)	rs145987906
NM_000368.5(TSC1):c.2208+2T>A	rs1064794132
NM_000368.5(TSC1):c.2235G>A (p.Lys745=)	rs753265422
NM_000368.5(TSC1):c.2369A>G (p.Tyr790Cys)	rs749111647
NM_000368.5(TSC1):c.2380C>A (p.Gln794Lys)	rs781371665
NM_000368.5(TSC1):c.2393C>T (p.Thr798Met)	rs1331635112
NM_000368.5(TSC1):c.2394G>A (p.Thr798=)	rs1060504860
NM_000368.5(TSC1):c.2412G>A (p.Arg804=)	rs1554814676
NM_000368.5(TSC1):c.2448G>A (p.Lys816=)	rs1588299142
NM_000368.5(TSC1):c.2459A>G (p.Lys820Arg)	rs1369700443
NM_000368.5(TSC1):c.2499A>G (p.Gln833=)	rs1554814615
NM_000368.5(TSC1):c.2508A>C (p.Ser836=)	rs1554814456
NM_000368.5(TSC1):c.2514T>C (p.Ser838=)	rs786203259
NM_000368.5(TSC1):c.2626-21_2626-19dup	rs5901000
NM_000368.5(TSC1):c.2626-3dup	rs1554813639
NM_000368.5(TSC1):c.2626-4del	rs5901000
NM_000368.5(TSC1):c.2635A>G (p.Met879Val)	rs778416424
NM_000368.5(TSC1):c.2665_2666delinsAT (p.Glu889Ile)	rs587778724
NM_000368.5(TSC1):c.2667A>G (p.Glu889=)	rs1554813546
NM_000368.5(TSC1):c.2748G>C (p.Leu916=)	rs1588290553
NM_000368.5(TSC1):c.2755A>C (p.Lys919Gln)	rs1319954878
NM_000368.5(TSC1):c.2787T>C (p.Tyr929=)	rs753980869
NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter)	rs118203735
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter)	rs1588290078
NM_000368.5(TSC1):c.2890G>A (p.Asp964Asn)	rs1033463168
NM_000368.5(TSC1):c.2904G>A (p.Arg968=)	rs1554813280
NM_000368.5(TSC1):c.2933T>C (p.Leu978Pro)	rs770834438
NM_000368.5(TSC1):c.2934T>C (p.Leu978=)	rs1554813253
NM_000368.5(TSC1):c.3060C>T (p.Thr1020=)	rs1380396209
NM_000368.5(TSC1):c.3086G>A (p.Ser1029Asn)	rs796053450
NM_000368.5(TSC1):c.3086G>T (p.Ser1029Ile)	rs796053450
NM_000368.5(TSC1):c.3125G>A (p.Ser1042Asn)	rs148931779
NM_000368.5(TSC1):c.3129_3130insAGCATCAGC (p.Ser1043_Glu1044insSerIleSer)	rs1588287475
NM_000368.5(TSC1):c.3133C>G (p.Leu1045Val)	rs747162992
NM_000368.5(TSC1):c.3159C>T (p.His1053=)	rs778413037
NM_000368.5(TSC1):c.3244C>G (p.Pro1082Ala)	rs1060503191
NM_000368.5(TSC1):c.3274G>T (p.Ala1092Ser)	rs747053008
NM_000368.5(TSC1):c.3293A>G (p.Asn1098Ser)	rs1554812687
NM_000368.5(TSC1):c.3305G>A (p.Ser1102Asn)	rs1263464680
NM_000368.5(TSC1):c.3336C>T (p.Ser1112=)	rs761334590
NM_000368.5(TSC1):c.33T>C (p.Leu11=)	rs1329395556
NM_000368.5(TSC1):c.3424C>G (p.Pro1142Ala)	rs1060503227
NM_000368.5(TSC1):c.3429G>A (p.Pro1143=)	rs759431801
NM_000368.5(TSC1):c.3429G>C (p.Pro1143=)	rs759431801
NM_000368.5(TSC1):c.3453A>G (p.Leu1151=)	rs1554812550
NM_000368.5(TSC1):c.3469A>G (p.Asn1157Asp)	rs796053451
NM_000368.5(TSC1):c.3486A>T (p.Glu1162Asp)	rs749746550
NM_000368.5(TSC1):c.348A>T (p.Leu116Phe)	rs755799702
NM_000368.5(TSC1):c.42G>A (p.Leu14=)	rs762233181
NM_000368.5(TSC1):c.445C>G (p.Gln149Glu)	rs118203384
NM_000368.5(TSC1):c.460T>A (p.Phe154Ile)	rs1485129708
NM_000368.5(TSC1):c.541C>T (p.His181Tyr)	rs1057524690
NM_000368.5(TSC1):c.549T>C (p.Ser183=)	rs774398322
NM_000368.5(TSC1):c.54G>C (p.Met18Ile)	rs940292214
NM_000368.5(TSC1):c.556G>A (p.Ala186Thr)	rs1279777367
NM_000368.5(TSC1):c.569G>A (p.Arg190His)	rs118203402
NM_000368.5(TSC1):c.660C>T (p.Val220=)	rs1588346808
NM_000368.5(TSC1):c.663+1G>A	rs118203419
NM_000368.5(TSC1):c.664-1G>A	rs118203423
NM_000368.5(TSC1):c.692C>T (p.Pro231Leu)	rs1322586198
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter)	rs118203434
NM_000368.5(TSC1):c.737+3A>G	rs118203439
NM_000368.5(TSC1):c.737G>A (p.Arg246Lys)	rs118203436
NM_000368.5(TSC1):c.765T>G (p.Val255=)	rs1588327624
NM_000368.5(TSC1):c.870C>G (p.Ala290=)	rs779155575
NM_000368.5(TSC1):c.870C>T (p.Ala290=)	rs779155575
NM_000368.5(TSC1):c.882C>T (p.Thr294=)	rs1588326689
NM_000368.5(TSC1):c.915G>A (p.Gly305=)	rs397515293
NM_000368.5(TSC1):c.915G>C (p.Gly305=)	rs397515293
NM_000368.5(TSC1):c.915G>T (p.Gly305=)	rs397515293
NM_000368.5(TSC1):c.931C>A (p.Pro311Thr)	rs1332186256
NM_000368.5(TSC1):c.982C>T (p.Gln328Ter)	rs1554817388
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala)	rs797046081
NM_000372.5(TYR):c.125A>G (p.Asp42Gly)	rs28940878
NM_000372.5(TYR):c.1275C>G (p.Tyr425Ter)	rs1590902378
NM_000372.5(TYR):c.661G>A (p.Glu221Lys)	rs758115945
NM_000372.5(TYR):c.820-3C>G	rs61754371
NM_000372.5(TYR):c.982G>A (p.Glu328Lys)	rs61754380
NM_000379.4(XDH):c.1885G>A (p.Val629Ile)	rs148464316
NM_000396.4(CTSK):c.3G>A (p.Met1Ile)	rs778368118
NM_000396.4(CTSK):c.568C>T (p.Gln190Ter)	rs202040269
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter)	rs74315303
NM_000396.4(CTSK):c.934C>T (p.Arg312Ter)	rs375958814
NM_000441.2(SLC26A4):c.1001+1G>T	rs80338849
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)	rs146281367
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)	rs397516413
NM_000441.2(SLC26A4):c.1264-1G>C	rs111033311
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.1547dup (p.Ser517fs)	rs786204450
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro)	rs1554360358
NM_000441.2(SLC26A4):c.1614+1G>C	rs111033312
NM_000441.2(SLC26A4):c.164+1del	rs786204504
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln)	rs111033318
NM_000441.2(SLC26A4):c.2127del (p.Phe709fs)	rs786204523
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val)	rs111033310
NM_000441.2(SLC26A4):c.304+2T>C	rs746238617
NM_000441.2(SLC26A4):c.486C>T (p.Leu162=)	rs370020280
NM_000441.2(SLC26A4):c.737del (p.Asn246fs)	rs918684449
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter)	rs111033205
NM_000441.2(SLC26A4):c.890del (p.Pro297fs)	rs786204600
NM_000441.2(SLC26A4):c.918+1G>T	rs111033245
NM_000455.5(STK11):c.*6G>A	rs1057523753
NM_000455.5(STK11):c.1002C>T (p.Ser334=)	rs1057521267
NM_000455.5(STK11):c.1037_1042del (p.Gly346_Ala347del)	rs1060499969
NM_000455.5(STK11):c.1040C>G (p.Ala347Gly)	rs587782058
NM_000455.5(STK11):c.1063G>A (p.Asp355Asn)	rs769403473
NM_000455.5(STK11):c.1068C>G (p.Ile356Met)	rs187744790
NM_000455.5(STK11):c.1108G>A (p.Gly370Arg)	rs747655835
NM_000455.5(STK11):c.1109-4C>A	rs1407794756
NM_000455.5(STK11):c.1129G>C (p.Ala377Pro)	rs768870802
NM_000455.5(STK11):c.1167C>T (p.Ala389=)	rs547919101
NM_000455.5(STK11):c.1180G>A (p.Gly394Ser)	rs768780695
NM_000455.5(STK11):c.120C>T (p.Arg40=)	rs878853984
NM_000455.5(STK11):c.1225C>A (p.Arg409=)	rs368466538
NM_000455.5(STK11):c.1225C>G (p.Arg409Gly)	rs368466538
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)	rs368466538
NM_000455.5(STK11):c.1236C>T (p.Asn412=)	rs1158714606
NM_000455.5(STK11):c.1243C>G (p.Arg415Gly)	rs864622448
NM_000455.5(STK11):c.1244G>A (p.Arg415His)	rs775978755
NM_000455.5(STK11):c.1252T>A (p.Cys418Ser)	rs730881991
NM_000455.5(STK11):c.1253G>C (p.Cys418Ser)	rs878853986
NM_000455.5(STK11):c.125G>A (p.Arg42Gln)	rs148830698
NM_000455.5(STK11):c.1266C>T (p.Ser422=)	rs751352435
NM_000455.5(STK11):c.1276C>G (p.Arg426Gly)	rs587782687
NM_000455.5(STK11):c.1282T>A (p.Ser428Thr)	rs1064793938
NM_000455.5(STK11):c.1283C>G (p.Ser428Trp)	rs587781537
NM_000455.5(STK11):c.156G>T (p.Gly52=)	rs1060499953
NM_000455.5(STK11):c.169dup (p.Glu57fs)	rs121913319
NM_000455.5(STK11):c.17C>G (p.Pro6Arg)	rs775346785
NM_000455.5(STK11):c.189G>A (p.Val63=)	rs1342321548
NM_000455.5(STK11):c.200T>C (p.Leu67Pro)	rs137853077
NM_000455.5(STK11):c.248A>G (p.Lys83Arg)	rs374006397
NM_000455.5(STK11):c.345T>C (p.Asp115=)	rs2145420737
NM_000455.5(STK11):c.358G>T (p.Glu120Ter)	rs775595174
NM_000455.5(STK11):c.407T>C (p.Met136Thr)	rs1060499958
NM_000455.5(STK11):c.418_420del (p.Leu140del)	rs1599925362
NM_000455.5(STK11):c.43G>A (p.Gly15Ser)	rs1060499970
NM_000455.5(STK11):c.458C>A (p.Ala153Asp)	rs1555737824
NM_000455.5(STK11):c.463G>A (p.Gly155Arg)	rs763353991
NM_000455.5(STK11):c.464+14G>A	rs587782421
NM_000455.5(STK11):c.464+20del	rs730881960
NM_000455.5(STK11):c.464G>A (p.Gly155Glu)	rs1555737830
NM_000455.5(STK11):c.465-4G>A	rs587780009
NM_000455.5(STK11):c.489C>T (p.Gly163=)	rs1060499959
NM_000455.5(STK11):c.537G>A (p.Pro179=)	rs528535500
NM_000455.5(STK11):c.542A>G (p.Asn181Ser)	rs886037859
NM_000455.5(STK11):c.543C>G (p.Asn181Lys)	rs730881973
NM_000455.5(STK11):c.558C>T (p.Thr186=)	rs749563734
NM_000455.5(STK11):c.564C>T (p.Gly188=)	rs786201344
NM_000455.5(STK11):c.579C>A (p.Ser193=)	rs730881961
NM_000455.5(STK11):c.580G>A (p.Asp194Asn)	rs121913315
NM_000455.5(STK11):c.597+21dup	rs534445875
NM_000455.5(STK11):c.598-11C>T	rs587782431
NM_000455.5(STK11):c.618G>C (p.Ala206=)	rs370976710
NM_000455.5(STK11):c.693C>T (p.Phe231=)	rs1568708275
NM_000455.5(STK11):c.721G>A (p.Ala241Thr)	rs587780721
NM_000455.5(STK11):c.734+19dup	rs730881962
NM_000455.5(STK11):c.735-16_735-15del	rs775965325
NM_000455.5(STK11):c.735-1G>A	rs1057517830
NM_000455.5(STK11):c.735-6_735-2del	rs759090799
NM_000455.5(STK11):c.747C>T (p.Thr249=)	rs759546076
NM_000455.5(STK11):c.840C>T (p.Pro280=)	rs1471868090
NM_000455.5(STK11):c.842C>A (p.Pro281Gln)	rs121913322
NM_000455.5(STK11):c.854T>C (p.Leu285Pro)	rs1555738724
NM_000455.5(STK11):c.862+4G>A	rs1555738736
NM_000455.5(STK11):c.863-14C>G	rs756001994
NM_000455.5(STK11):c.863-3C>T	rs1599928254
NM_000455.5(STK11):c.863-5C>T	rs1599928248
NM_000455.5(STK11):c.863-5_863-3del	rs764739106
NM_000455.5(STK11):c.864G>A (p.Gly288=)	rs2080787350
NM_000455.5(STK11):c.869T>C (p.Leu290Pro)	rs1057524439
NM_000455.5(STK11):c.894C>G (p.Phe298Leu)	rs199681533
NM_000455.5(STK11):c.910C>T (p.Arg304Trp)	rs786201090
NM_000455.5(STK11):c.920+1G>A	rs1131690920
NM_000455.5(STK11):c.920+7G>A	rs2075607
NM_000455.5(STK11):c.921-1G>C	rs398123406
NM_000455.5(STK11):c.923G>A (p.Trp308Ter)	rs864622488
NM_000455.5(STK11):c.942T>C (p.Pro314=)	rs1256260277
NM_000455.5(STK11):c.96C>G (p.Thr32=)	rs79175212
NM_000466.3(PEX1):c.1927del (p.Thr643fs)	rs1554372180
NM_000487.6(ARSA):c.276C>T (p.Gly92=)	rs978006787
NM_000487.6(ARSA):c.545del (p.Pro182fs)	rs1057516907
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)	rs1800086
NM_000492.4(CFTR):c.1052C>T (p.Thr351Ile)	rs1800086
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys)	rs4727853
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val)	rs74551128
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro)	rs1554382664
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)	rs79282516
NM_000492.4(CFTR):c.1446T>A (p.Ile482=)	rs914422460
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp)	rs774945680
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)	rs397508224
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile)	rs77646904
NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr)	rs1554384440
NM_000492.4(CFTR):c.1602A>G (p.Ala534=)	rs1584810152
NM_000492.4(CFTR):c.164+2dup	rs1554375870
NM_000492.4(CFTR):c.164+9A>T	rs397508245
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)	rs1800097
NM_000492.4(CFTR):c.1730A>T (p.Tyr577Phe)	rs397508286
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile)	rs397508308
NM_000492.4(CFTR):c.1826A>T (p.His609Leu)	rs397508310
NM_000492.4(CFTR):c.184G>C (p.Ala62Pro)	rs1584776330
NM_000492.4(CFTR):c.2026C>G (p.Pro676Ala)	rs762888022
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)	rs1800076
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn)	rs201864483
NM_000492.4(CFTR):c.2706C>G (p.Ser902Arg)	rs397508422
NM_000492.4(CFTR):c.273+8T>A	rs1189108407
NM_000492.4(CFTR):c.276A>T (p.Glu92Asp)	rs397508432
NM_000492.4(CFTR):c.2909-4A>G	rs397508457
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu)	rs193922516
NM_000492.4(CFTR):c.3061C>T (p.Pro1021Ser)	rs397508491
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe)	rs397508520
NM_000492.4(CFTR):c.3257C>T (p.Thr1086Ile)	rs77958296
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr)	rs113993958
NM_000492.4(CFTR):c.331C>G (p.Pro111Ala)	rs397508541
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)	rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His)	rs78655421
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)	rs78655421
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys)	rs77010898
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile)	rs397508634
NM_000492.4(CFTR):c.416A>T (p.His139Leu)	rs76371115
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn)	rs35516286
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn)	rs397508725
NM_000492.4(CFTR):c.523A>G (p.Ile175Val)	rs397508744
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys)	rs397508753
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly)	rs1554380515
NM_000500.9(CYP21A2):c.293-13C>A	rs6467
NM_000506.5(F2):c.423-7G>C	rs2070852
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp)	rs267606838
NM_000512.5(GALNS):c.121-2A>G	rs1567538216
NM_000512.5(GALNS):c.122T>A (p.Met41Lys)	rs1555523411
NM_000512.5(GALNS):c.1354T>A (p.Phe452Ile)	rs398123432
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)	rs760300454
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu)	rs1597515555
NM_000512.5(GALNS):c.155C>T (p.Pro52Leu)	rs2143005523
NM_000512.5(GALNS):c.218A>G (p.Tyr73Cys)	rs398123435
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)	rs1422505598
NM_000512.5(GALNS):c.239C>T (p.Ser80Leu)	rs1209154325
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg)	rs794727625
NM_000512.5(GALNS):c.425A>G (p.His142Arg)	rs1288895691
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys)	rs1301146300
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr)	rs761725425
NM_000512.5(GALNS):c.499T>G (p.Phe167Val)	rs148565559
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys)	rs786205899
NM_000512.5(GALNS):c.647T>C (p.Phe216Ser)	rs747805226
NM_000512.5(GALNS):c.700G>A (p.Ala234Thr)	rs368603508
NM_000512.5(GALNS):c.707A>G (p.His236Arg)	rs398123441
NM_000512.5(GALNS):c.871G>T (p.Ala291Ser)	rs118204448
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro)	rs2142999202
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	rs33946267
NM_000527.5(LDLR):c.1088C>A (p.Thr363Asn)	rs200533979
NM_000528.4(MAN2B1):c.1048dup (p.His350fs)	rs2145262260
NM_000528.4(MAN2B1):c.1068C>T (p.Pro356=)	rs117880912
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter)	rs786204715
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=)	rs762375074
NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter)	rs781291011
NM_000528.4(MAN2B1):c.1280_1296del (p.Pro427fs)	rs1057517408
NM_000528.4(MAN2B1):c.1284T>G (p.Tyr428Ter)	rs2024014272
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter)	rs775200333
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=)	rs775200333
NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs)	rs1599350640
NM_000528.4(MAN2B1):c.1915C>T (p.Gln639Ter)	rs121434332
NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter)	rs1599344532
NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter)	rs756680048
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu)	rs387906261
NM_000528.4(MAN2B1):c.2165+1G>A	rs80338679
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.2355G>A (p.Thr785=)	rs1008745697
NM_000528.4(MAN2B1):c.2356-2A>G	rs1064793936
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg)	rs398123456
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs)	rs797044680
NM_000528.4(MAN2B1):c.2414_2417del (p.Arg805fs)	rs1347035611
NM_000528.4(MAN2B1):c.2437-2A>G	rs1445197546
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.2802dup (p.Val935fs)	rs1057516864
NM_000528.4(MAN2B1):c.285C>T (p.Ala95=)	rs750997069
NM_000528.4(MAN2B1):c.2865G>A (p.Thr955=)	rs148108322
NM_000528.4(MAN2B1):c.2883C>A (p.Leu961=)	rs1376771729
NM_000528.4(MAN2B1):c.2887G>T (p.Glu963Ter)	rs757072948
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)	rs370803545
NM_000528.4(MAN2B1):c.426del (p.Val143fs)	rs2024205685
NM_000528.4(MAN2B1):c.639C>T (p.Phe213=)	rs886054233
NM_000528.4(MAN2B1):c.896dup (p.Ala300fs)	rs2024151949
NM_000531.6(OTC):c.1019C>T (p.Ser340Phe)	rs1569282905
NM_000531.6(OTC):c.116G>A (p.Gly39Asp)	rs1602014500
NM_000531.6(OTC):c.608C>T (p.Ser203Phe)	rs72558410
NM_000531.6(OTC):c.674C>T (p.Pro225Leu)	rs67120076
NM_000531.6(OTC):c.77G>A (p.Arg26Gln)	rs68031618
NM_000531.6(OTC):c.919A>G (p.Lys307Glu)	rs796052013
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)	rs202081954
NM_000546.6(TP53):c.*1070C>T	rs114831472
NM_000546.6(TP53):c.1002G>A (p.Gly334=)	rs786203531
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)	rs587782529
NM_000546.6(TP53):c.100C>G (p.Pro34Ala)	rs786201968
NM_000546.6(TP53):c.1010G>T (p.Arg337Leu)	rs121912664
NM_000546.6(TP53):c.1014C>G (p.Phe338Leu)	rs150293825
NM_000546.6(TP53):c.1016A>G (p.Glu339Gly)	rs1237829645
NM_000546.6(TP53):c.101C>G (p.Pro34Arg)	rs1322947350
NM_000546.6(TP53):c.1024del (p.Arg342fs)	rs1131691022
NM_000546.6(TP53):c.1025G>C (p.Arg342Pro)	rs375338359
NM_000546.6(TP53):c.1030C>T (p.Leu344=)	rs1597349242
NM_000546.6(TP53):c.103T>A (p.Leu35Met)	rs1060501211
NM_000546.6(TP53):c.1041C>G (p.Ala347=)	rs1450229137
NM_000546.6(TP53):c.1062G>A (p.Gln354=)	rs1382535379
NM_000546.6(TP53):c.1064C>T (p.Ala355Val)	rs1555524382
NM_000546.6(TP53):c.1072G>A (p.Glu358Lys)	rs587782237
NM_000546.6(TP53):c.1079G>A (p.Gly360Glu)	rs35993958
NM_000546.6(TP53):c.107C>T (p.Pro36Leu)	rs587781866
NM_000546.6(TP53):c.1083G>A (p.Gly361=)	rs886038349
NM_000546.6(TP53):c.1087A>G (p.Arg363Gly)	rs745751553
NM_000546.6(TP53):c.1101-1G>A	rs876658982
NM_000546.6(TP53):c.1101-2A>G	rs587781664
NM_000546.6(TP53):c.1104C>A (p.His368Gln)	rs1289241865
NM_000546.6(TP53):c.1104C>G (p.His368Gln)	rs1289241865
NM_000546.6(TP53):c.1104C>T (p.His368=)	rs1289241865
NM_000546.6(TP53):c.1115A>G (p.Lys372Arg)	rs876658876
NM_000546.6(TP53):c.1118A>G (p.Lys373Arg)	rs1567540504
NM_000546.6(TP53):c.111C>G (p.Ser37=)	rs1555526798
NM_000546.6(TP53):c.1125G>A (p.Gln375=)	rs764011631
NM_000546.6(TP53):c.1130C>T (p.Thr377Ile)	rs1597345549
NM_000546.6(TP53):c.1131C>A (p.Thr377=)	rs1456836660
NM_000546.6(TP53):c.1135C>T (p.Arg379Cys)	rs749061599
NM_000546.6(TP53):c.1137C>T (p.Arg379=)	rs786202368
NM_000546.6(TP53):c.1161A>G (p.Thr387=)	rs1131691017
NM_000546.6(TP53):c.116C>T (p.Ala39Val)	rs1353016807
NM_000546.6(TP53):c.1177G>A (p.Asp393Asn)	rs1192921623
NM_000546.6(TP53):c.1177G>C (p.Asp393His)	rs1192921623
NM_000546.6(TP53):c.118A>G (p.Met40Val)	rs1597375159
NM_000546.6(TP53):c.119T>C (p.Met40Thr)	rs587782877
NM_000546.6(TP53):c.11C>G (p.Pro4Arg)	rs878854064
NM_000546.6(TP53):c.121G>A (p.Asp41Asn)	rs1555526789
NM_000546.6(TP53):c.125A>G (p.Asp42Gly)	rs587781767
NM_000546.6(TP53):c.132G>A (p.Met44Ile)	rs1060501190
NM_000546.6(TP53):c.134T>C (p.Leu45Pro)	rs879254066
NM_000546.6(TP53):c.139C>A (p.Pro47Thr)	rs1800371
NM_000546.6(TP53):c.147T>C (p.Asp49=)	rs786201148
NM_000546.6(TP53):c.171C>T (p.Asp57=)	rs587782776
NM_000546.6(TP53):c.183T>A (p.Asp61Glu)	rs1597374797
NM_000546.6(TP53):c.18A>G (p.Ser6=)	rs573130482
NM_000546.6(TP53):c.192C>G (p.Pro64=)	rs1555526723
NM_000546.6(TP53):c.198G>A (p.Met66Ile)	rs1555526711
NM_000546.6(TP53):c.19G>C (p.Asp7His)	rs587782646
NM_000546.6(TP53):c.201A>G (p.Pro67=)	rs786203912
NM_000546.6(TP53):c.204G>A (p.Glu68=)	rs746814615
NM_000546.6(TP53):c.205G>A (p.Ala69Thr)	rs1567556618
NM_000546.6(TP53):c.207T>C (p.Ala69=)	rs775185978
NM_000546.6(TP53):c.210T>A (p.Ala70=)	rs786203513
NM_000546.6(TP53):c.210T>C (p.Ala70=)	rs786203513
NM_000546.6(TP53):c.211C>G (p.Pro71Ala)	rs1567556576
NM_000546.6(TP53):c.215_216delinsGT (p.Pro72Arg)	rs878854066
NM_000546.6(TP53):c.229C>A (p.Pro77Thr)	rs753085009
NM_000546.6(TP53):c.22C>A (p.Pro8Thr)	rs1597376589
NM_000546.6(TP53):c.233C>G (p.Ala78Gly)	rs876658527
NM_000546.6(TP53):c.248C>A (p.Ala83Glu)	rs201717599
NM_000546.6(TP53):c.257C>T (p.Ala86Val)	rs1597374264
NM_000546.6(TP53):c.263C>T (p.Ala88Val)	rs1555526631
NM_000546.6(TP53):c.264C>T (p.Ala88=)	rs876660951
NM_000546.6(TP53):c.266C>T (p.Pro89Leu)	rs730881994
NM_000546.6(TP53):c.267C>A (p.Pro89=)	rs786201443
NM_000546.6(TP53):c.273_279del (p.Trp91fs)	rs1064796124
NM_000546.6(TP53):c.275C>T (p.Pro92Leu)	rs1210700121
NM_000546.6(TP53):c.279G>T (p.Leu93=)	rs878854067
NM_000546.6(TP53):c.27C>G (p.Ser9Arg)	rs757282628
NM_000546.6(TP53):c.285T>G (p.Ser95=)	rs876658696
NM_000546.6(TP53):c.289G>C (p.Val97Leu)	rs730882023
NM_000546.6(TP53):c.29T>G (p.Val10Gly)	rs1418778734
NM_000546.6(TP53):c.304A>T (p.Thr102Ser)	rs1567555968
NM_000546.6(TP53):c.305C>T (p.Thr102Ile)	rs786202717
NM_000546.6(TP53):c.30C>G (p.Val10=)	rs568171603
NM_000546.6(TP53):c.313G>A (p.Gly105Ser)	rs1060501195
NM_000546.6(TP53):c.313G>C (p.Gly105Arg)	rs1060501195
NM_000546.6(TP53):c.314G>A (p.Gly105Asp)	rs587781504
NM_000546.6(TP53):c.317G>T (p.Ser106Ile)	rs1567555883
NM_000546.6(TP53):c.322_339del (p.Gly108_Phe113del)	rs886039495
NM_000546.6(TP53):c.327_328del (p.Phe109fs)	rs1064795434
NM_000546.6(TP53):c.329G>C (p.Arg110Pro)	rs11540654
NM_000546.6(TP53):c.329G>T (p.Arg110Leu)	rs11540654
NM_000546.6(TP53):c.330T>C (p.Arg110=)	rs1060504167
NM_000546.6(TP53):c.334G>A (p.Gly112Ser)	rs1423803759
NM_000546.6(TP53):c.336C>A (p.Gly112=)	rs876659177
NM_000546.6(TP53):c.336CTT[1] (p.Phe113del)	rs764486868
NM_000546.6(TP53):c.337T>G (p.Phe113Val)	rs587781642
NM_000546.6(TP53):c.343C>A (p.His115Asn)	rs1555526532
NM_000546.6(TP53):c.351G>A (p.Gly117=)	rs876658998
NM_000546.6(TP53):c.35C>G (p.Pro12Arg)	rs1482497533
NM_000546.6(TP53):c.35C>T (p.Pro12Leu)	rs1482497533
NM_000546.6(TP53):c.374C>G (p.Thr125Arg)	rs786201057
NM_000546.6(TP53):c.375+1G>A	rs1567555445
NM_000546.6(TP53):c.375+1G>C	rs1567555445
NM_000546.6(TP53):c.375+1G>T	rs1567555445
NM_000546.6(TP53):c.375+1dup	rs1555526470
NM_000546.6(TP53):c.375+2T>A	rs1555526469
NM_000546.6(TP53):c.375+2T>C	rs1555526469
NM_000546.6(TP53):c.375+5G>A	rs1555526466
NM_000546.6(TP53):c.376-2A>G	rs786202799
NM_000546.6(TP53):c.376T>A (p.Tyr126Asn)	rs886039483
NM_000546.6(TP53):c.377A>G (p.Tyr126Cys)	rs1555526335
NM_000546.6(TP53):c.379T>A (p.Ser127Thr)	rs1597371694
NM_000546.6(TP53):c.388C>G (p.Leu130Val)	rs863224683
NM_000546.6(TP53):c.388C>T (p.Leu130Phe)	rs863224683
NM_000546.6(TP53):c.38C>G (p.Pro13Arg)	rs878854070
NM_000546.6(TP53):c.390CAA[1] (p.Asn131del)	rs879254214
NM_000546.6(TP53):c.392A>T (p.Asn131Ile)	rs1131691037
NM_000546.6(TP53):c.394A>G (p.Lys132Glu)	rs747342068
NM_000546.6(TP53):c.402T>C (p.Phe134=)	rs1555526278
NM_000546.6(TP53):c.405C>G (p.Cys135Trp)	rs1057519976
NM_000546.6(TP53):c.406C>G (p.Gln136Glu)	rs1555526268
NM_000546.6(TP53):c.40C>G (p.Leu14Val)	rs1567558112
NM_000546.6(TP53):c.411G>C (p.Leu137=)	rs876660731
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr)	rs587781288
NM_000546.6(TP53):c.42G>A (p.Leu14=)	rs773918872
NM_000546.6(TP53):c.42G>C (p.Leu14=)	rs773918872
NM_000546.6(TP53):c.431A>C (p.Gln144Pro)	rs786203071
NM_000546.6(TP53):c.432G>A (p.Gln144=)	rs786201419
NM_000546.6(TP53):c.437G>A (p.Trp146Ter)	rs1206165503
NM_000546.6(TP53):c.442G>T (p.Asp148Tyr)	rs1131691007
NM_000546.6(TP53):c.443A>C (p.Asp148Ala)	rs1046611742
NM_000546.6(TP53):c.450A>C (p.Thr150=)	rs754020850
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)	rs28934874
NM_000546.6(TP53):c.451C>T (p.Pro151Ser)	rs28934874
NM_000546.6(TP53):c.455C>G (p.Pro152Arg)	rs587782705
NM_000546.6(TP53):c.456G>A (p.Pro152=)	rs876659481
NM_000546.6(TP53):c.463A>G (p.Thr155Ala)	rs772683278
NM_000546.6(TP53):c.465C>A (p.Thr155=)	rs786202992
NM_000546.6(TP53):c.470T>C (p.Val157Ala)	rs1131691023
NM_000546.6(TP53):c.471C>A (p.Val157=)	rs1057522496
NM_000546.6(TP53):c.473G>C (p.Arg158Pro)	rs587782144
NM_000546.6(TP53):c.473G>T (p.Arg158Leu)	rs587782144
NM_000546.6(TP53):c.473_474delinsTT (p.Arg158Leu)	rs1567553501
NM_000546.6(TP53):c.475G>C (p.Ala159Pro)	rs730882000
NM_000546.6(TP53):c.483C>A (p.Ala161=)	rs1057523101
NM_000546.6(TP53):c.487T>C (p.Tyr163His)	rs786203436
NM_000546.6(TP53):c.490A>G (p.Lys164Glu)	rs879254249
NM_000546.6(TP53):c.492G>A (p.Lys164=)	rs1131691034
NM_000546.6(TP53):c.498A>G (p.Ser166=)	rs1555526098
NM_000546.6(TP53):c.499C>T (p.Gln167Ter)	rs1555526097
NM_000546.6(TP53):c.517G>T (p.Val173Leu)	rs876660754
NM_000546.6(TP53):c.518T>C (p.Val173Ala)	rs1057519747
NM_000546.6(TP53):c.523C>G (p.Arg175Gly)	rs138729528
NM_000546.6(TP53):c.524G>T (p.Arg175Leu)	rs28934578
NM_000546.6(TP53):c.530C>G (p.Pro177Arg)	rs751477326
NM_000546.6(TP53):c.531C>G (p.Pro177=)	rs1597369785
NM_000546.6(TP53):c.537T>C (p.His179=)	rs876660821
NM_000546.6(TP53):c.537T>G (p.His179Gln)	rs876660821
NM_000546.6(TP53):c.542G>C (p.Arg181Pro)	rs397514495
NM_000546.6(TP53):c.543C>T (p.Arg181=)	rs876659582
NM_000546.6(TP53):c.548C>T (p.Ser183Leu)	rs1555525970
NM_000546.6(TP53):c.549A>G (p.Ser183=)	rs1597369559
NM_000546.6(TP53):c.559+1G>A	rs1131691042
NM_000546.6(TP53):c.559+1G>T	rs1131691042
NM_000546.6(TP53):c.560-9T>A	rs794727781
NM_000546.6(TP53):c.567C>T (p.Ala189=)	rs55764374
NM_000546.6(TP53):c.569C>G (p.Pro190Arg)	rs876660825
NM_000546.6(TP53):c.575A>G (p.Gln192Arg)	rs730882002
NM_000546.6(TP53):c.577C>T (p.His193Tyr)	rs876658468
NM_000546.6(TP53):c.578A>G (p.His193Arg)	rs786201838
NM_000546.6(TP53):c.580C>T (p.Leu194Phe)	rs587780071
NM_000546.6(TP53):c.584T>A (p.Ile195Asn)	rs760043106
NM_000546.6(TP53):c.586C>G (p.Arg196Gly)	rs397516435
NM_000546.6(TP53):c.589G>A (p.Val197Met)	rs786204041
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn)	rs1057520008
NM_000546.6(TP53):c.615T>C (p.Tyr205=)	rs786202222
NM_000546.6(TP53):c.625A>G (p.Arg209Gly)	rs1429743956
NM_000546.6(TP53):c.630C>T (p.Asn210=)	rs1555525791
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)	rs587778720
NM_000546.6(TP53):c.638G>C (p.Arg213Pro)	rs587778720
NM_000546.6(TP53):c.644G>C (p.Ser215Thr)	rs587782177
NM_000546.6(TP53):c.645T>G (p.Ser215Arg)	rs1057520001
NM_000546.6(TP53):c.651G>T (p.Val217=)	rs1555525747
NM_000546.6(TP53):c.653T>G (p.Val218Gly)	rs1555525743
NM_000546.6(TP53):c.654G>A (p.Val218=)	rs753630563
NM_000546.6(TP53):c.657C>A (p.Pro219=)	rs786201859
NM_000546.6(TP53):c.666G>A (p.Pro222=)	rs72661118
NM_000546.6(TP53):c.666G>T (p.Pro222=)	rs72661118
NM_000546.6(TP53):c.672+1G>A	rs863224499
NM_000546.6(TP53):c.672+1G>T	rs863224499
NM_000546.6(TP53):c.672+48G>A	rs17884607
NM_000546.6(TP53):c.672+6_672+8delinsTTG	rs2073318029
NM_000546.6(TP53):c.672G>A (p.Glu224=)	rs267605076
NM_000546.6(TP53):c.673-19G>A	rs564974117
NM_000546.6(TP53):c.673-2A>G	rs1555525585
NM_000546.6(TP53):c.673-4C>G	rs1555525586
NM_000546.6(TP53):c.673G>A (p.Val225Ile)	rs746504075
NM_000546.6(TP53):c.684C>G (p.Asp228Glu)	rs2073267220
NM_000546.6(TP53):c.687T>C (p.Cys229=)	rs2151022242
NM_000546.6(TP53):c.698A>G (p.His233Arg)	rs879254233
NM_000546.6(TP53):c.698ACTACA[1] (p.Asn235_Tyr236del)	rs794727846
NM_000546.6(TP53):c.699C>T (p.His233=)	rs2151022006
NM_000546.6(TP53):c.700T>C (p.Tyr234His)	rs864622237
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys)	rs587780073
NM_000546.6(TP53):c.706T>A (p.Tyr236Asn)	rs587782289
NM_000546.6(TP53):c.709A>G (p.Met237Val)	rs730882004
NM_000546.6(TP53):c.712T>C (p.Cys238Arg)	rs1057519981
NM_000546.6(TP53):c.713G>C (p.Cys238Ser)	rs730882005
NM_000546.6(TP53):c.716A>G (p.Asn239Ser)	rs1057519999
NM_000546.6(TP53):c.717C>T (p.Asn239=)	rs1057522275
NM_000546.6(TP53):c.718A>G (p.Ser240Gly)	rs1567549584
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr)	rs28934573
NM_000546.6(TP53):c.722C>G (p.Ser241Cys)	rs28934573
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)	rs28934573
NM_000546.6(TP53):c.727A>G (p.Met243Val)	rs786203117
NM_000546.6(TP53):c.731G>A (p.Gly244Asp)	rs985033810
NM_000546.6(TP53):c.734G>A (p.Gly245Asp)	rs121912656
NM_000546.6(TP53):c.741C>T (p.Asn247=)	rs786202448
NM_000546.6(TP53):c.745A>G (p.Arg249Gly)	rs587782082
NM_000546.6(TP53):c.746G>A (p.Arg249Lys)	rs587782329
NM_000546.6(TP53):c.751A>C (p.Ile251Leu)	rs730882007
NM_000546.6(TP53):c.753C>T (p.Ile251=)	rs878854074
NM_000546.6(TP53):c.761TCA[1] (p.Ile255del)	rs1064794309
NM_000546.6(TP53):c.764T>A (p.Ile255Asn)	rs876659675
NM_000546.6(TP53):c.766A>C (p.Thr256Pro)	rs587781433
NM_000546.6(TP53):c.769C>G (p.Leu257Val)	rs779761818
NM_000546.6(TP53):c.772G>A (p.Glu258Lys)	rs121912652
NM_000546.6(TP53):c.776A>T (p.Asp259Val)	rs745425759
NM_000546.6(TP53):c.782+3C>T	rs1555525425
NM_000546.6(TP53):c.785G>T (p.Gly262Val)	rs1131691025
NM_000546.6(TP53):c.78T>C (p.Leu26=)	rs934176141
NM_000546.6(TP53):c.794T>C (p.Leu265Pro)	rs879253942
NM_000546.6(TP53):c.797G>A (p.Gly266Glu)	rs193920774
NM_000546.6(TP53):c.797G>T (p.Gly266Val)	rs193920774
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)	rs55832599
NM_000546.6(TP53):c.79C>A (p.Pro27Thr)	rs922736614
NM_000546.6(TP53):c.7G>A (p.Glu3Lys)	rs2073524362
NM_000546.6(TP53):c.801G>A (p.Arg267=)	rs1597362195
NM_000546.6(TP53):c.809T>C (p.Phe270Ser)	rs1057519986
NM_000546.6(TP53):c.80C>T (p.Pro27Leu)	rs1555526933
NM_000546.6(TP53):c.817C>G (p.Arg273Gly)	rs121913343
NM_000546.6(TP53):c.818G>C (p.Arg273Pro)	rs28934576
NM_000546.6(TP53):c.827C>A (p.Ala276Asp)	rs786202082
NM_000546.6(TP53):c.831T>C (p.Cys277=)	rs1057523347
NM_000546.6(TP53):c.833C>A (p.Pro278His)	rs876659802
NM_000546.6(TP53):c.833C>G (p.Pro278Arg)	rs876659802
NM_000546.6(TP53):c.836G>A (p.Gly279Glu)	rs1064793881
NM_000546.6(TP53):c.838A>C (p.Arg280=)	rs753660142
NM_000546.6(TP53):c.83A>T (p.Glu28Val)	rs786202289
NM_000546.6(TP53):c.842A>T (p.Asp281Val)	rs587781525
NM_000546.6(TP53):c.843C>T (p.Asp281=)	rs1057519984
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)	rs730882008
NM_000546.6(TP53):c.846G>A (p.Arg282=)	rs1555525211
NM_000546.6(TP53):c.848G>C (p.Arg283Pro)	rs371409680
NM_000546.6(TP53):c.852A>C (p.Thr284=)	rs786203004
NM_000546.6(TP53):c.856G>A (p.Glu286Lys)	rs786201059
NM_000546.6(TP53):c.859G>A (p.Glu287Lys)	rs587782006
NM_000546.6(TP53):c.871A>G (p.Lys291Glu)	rs1555525126
NM_000546.6(TP53):c.873G>C (p.Lys291Asn)	rs372613518
NM_000546.6(TP53):c.877G>A (p.Gly293Arg)	rs587780076
NM_000546.6(TP53):c.891_915dup (p.Ala307_Leu308insAlaProArgGluHisTer)	rs2073171970
NM_000546.6(TP53):c.892del (p.Glu298fs)	rs2073177507
NM_000546.6(TP53):c.894G>A (p.Glu298=)	rs756123992
NM_000546.6(TP53):c.900C>T (p.Pro300=)	rs767356182
NM_000546.6(TP53):c.902C>T (p.Pro301Leu)	rs1555525067
NM_000546.6(TP53):c.905G>A (p.Gly302Glu)	rs1060501202
NM_000546.6(TP53):c.908G>A (p.Ser303Asn)	rs876658714
NM_000546.6(TP53):c.910A>G (p.Thr304Ala)	rs587782654
NM_000546.6(TP53):c.912T>C (p.Thr304=)	rs1555525052
NM_000546.6(TP53):c.919+2T>G	rs1131691016
NM_000546.6(TP53):c.920-14_920-3del	rs768598540
NM_000546.6(TP53):c.920-2A>G	rs397516439
NM_000546.6(TP53):c.920-3T>C	rs1367689213
NM_000546.6(TP53):c.924G>A (p.Leu308=)	rs786202546
NM_000546.6(TP53):c.925C>T (p.Pro309Ser)	rs1555525012
NM_000546.6(TP53):c.930C>A (p.Asn310Lys)	rs876660829
NM_000546.6(TP53):c.932A>G (p.Asn311Ser)	rs56184981
NM_000546.6(TP53):c.933C>T (p.Asn311=)	rs201601993
NM_000546.6(TP53):c.93T>G (p.Val31=)	rs1406108270
NM_000546.6(TP53):c.941C>T (p.Ser314Phe)	rs751440465
NM_000546.6(TP53):c.946C>T (p.Pro316Ser)	rs772773208
NM_000546.6(TP53):c.949C>T (p.Gln317Ter)	rs764735889
NM_000546.6(TP53):c.951G>A (p.Gln317=)	rs1060501199
NM_000546.6(TP53):c.96+15_96+31del	rs730882011
NM_000546.6(TP53):c.96+1G>T	rs1131691003
NM_000546.6(TP53):c.964C>T (p.Pro322Ser)	rs863224687
NM_000546.6(TP53):c.975A>G (p.Gly325=)	rs1245012034
NM_000546.6(TP53):c.986C>T (p.Thr329Ile)	rs969930693
NM_000546.6(TP53):c.98C>A (p.Ser33Tyr)	rs1555526832
NM_000546.6(TP53):c.992A>G (p.Gln331Arg)	rs1064795056
NM_000546.6(TP53):c.993+1G>A	rs11575997
NM_000546.6(TP53):c.993+1G>C	rs11575997
NM_000546.6(TP53):c.993+326_993+341del	rs730882013
NM_000546.6(TP53):c.993+5T>G	rs1310956961
NM_000546.6(TP53):c.993G>A (p.Gln331=)	rs11575996
NM_000546.6(TP53):c.994-1G>A	rs587782272
NM_000546.6(TP53):c.994-1G>C	rs587782272
NM_000546.6(TP53):c.996C>T (p.Ile332=)	rs1555524470
NM_000546.6(TP53):c.9G>A (p.Glu3=)	rs1555527028
NM_000548.5(TSC2):c.1049G>A (p.Arg350Lys)	rs1567423240
NM_000548.5(TSC2):c.1083G>A (p.Leu361=)	rs1057524138
NM_000548.5(TSC2):c.1101G>C (p.Arg367=)	rs45517149
NM_000548.5(TSC2):c.1119+3G>C	rs79668097
NM_000548.5(TSC2):c.1182G>A (p.Leu394=)	rs779951754
NM_000548.5(TSC2):c.1184G>A (p.Cys395Tyr)	rs1026632436
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg)	rs137854298
NM_000548.5(TSC2):c.1257+10C>G	rs756063576
NM_000548.5(TSC2):c.1260G>A (p.Glu420=)	rs876658585
NM_000548.5(TSC2):c.126G>A (p.Ala42=)	rs886043548
NM_000548.5(TSC2):c.1281C>G (p.Ile427Met)	rs45478892
NM_000548.5(TSC2):c.1299C>T (p.Ser433=)	rs993220492
NM_000548.5(TSC2):c.1307C>T (p.Pro436Leu)	rs796053485
NM_000548.5(TSC2):c.1308G>T (p.Pro436=)	rs753764275
NM_000548.5(TSC2):c.1311C>A (p.Ala437=)	rs752435039
NM_000548.5(TSC2):c.1317C>A (p.Asp439Glu)	rs777457815
NM_000548.5(TSC2):c.133C>T (p.Leu45=)	rs1555494707
NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro)	rs397515206
NM_000548.5(TSC2):c.1362-10C>A	rs45446697
NM_000548.5(TSC2):c.1362-4G>A	rs397515145
NM_000548.5(TSC2):c.1367A>G (p.Glu456Gly)	rs876659386
NM_000548.5(TSC2):c.1375G>T (p.Gly459Cys)	rs1567432890
NM_000548.5(TSC2):c.1385G>A (p.Arg462His)	rs45494392
NM_000548.5(TSC2):c.1416G>A (p.Val472=)	rs1596307406
NM_000548.5(TSC2):c.1458C>G (p.Asn486Lys)	rs200532154
NM_000548.5(TSC2):c.1470C>G (p.Ile490Met)	rs753344988
NM_000548.5(TSC2):c.1472C>T (p.Ser491Leu)	rs45517176
NM_000548.5(TSC2):c.1479C>T (p.Leu493=)	rs137854145
NM_000548.5(TSC2):c.1481C>T (p.Ser494Phe)	rs751984707
NM_000548.5(TSC2):c.1491C>G (p.Pro497=)	rs781367910
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)	rs45517179
NM_000548.5(TSC2):c.1553G>T (p.Gly518Val)	rs1229407025
NM_000548.5(TSC2):c.1577G>A (p.Ser526Asn)	rs376573446
NM_000548.5(TSC2):c.1593C>G (p.Ile531Met)	rs45517180
NM_000548.5(TSC2):c.1594G>A (p.Glu532Lys)	rs149222396
NM_000548.5(TSC2):c.1594G>C (p.Glu532Gln)	rs149222396
NM_000548.5(TSC2):c.1599+5G>A	rs397515100
NM_000548.5(TSC2):c.1600G>A (p.Val534Met)	rs587778729
NM_000548.5(TSC2):c.1611C>T (p.Arg537=)	rs45469702
NM_000548.5(TSC2):c.1626C>T (p.Pro542=)	rs376234285
NM_000548.5(TSC2):c.1643G>C (p.Arg548Thr)	rs748938385
NM_000548.5(TSC2):c.1653C>G (p.Ala551=)	rs202171361
NM_000548.5(TSC2):c.165C>T (p.Asn55=)	rs1596245687
NM_000548.5(TSC2):c.1675G>T (p.Asp559Tyr)	rs1555503254
NM_000548.5(TSC2):c.1728C>T (p.Tyr576=)	rs966102111
NM_000548.5(TSC2):c.1735C>G (p.Pro579Ala)	rs45517196
NM_000548.5(TSC2):c.1740A>C (p.Ala580=)	rs1057522755
NM_000548.5(TSC2):c.1743C>T (p.Ser581=)	rs775195398
NM_000548.5(TSC2):c.1748C>T (p.Ala583Val)	rs763863196
NM_000548.5(TSC2):c.1758G>A (p.Val586=)	rs1555505092
NM_000548.5(TSC2):c.1778A>G (p.His593Arg)	rs45517198
NM_000548.5(TSC2):c.1796A>G (p.Lys599Arg)	rs45517202
NM_000548.5(TSC2):c.17G>A (p.Ser6Asn)	rs758239066
NM_000548.5(TSC2):c.1815A>T (p.Pro605=)	rs961687056
NM_000548.5(TSC2):c.1824C>T (p.Ser608=)	rs886038351
NM_000548.5(TSC2):c.1828A>G (p.Ile610Val)	rs1285778253
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)	rs28934872
NM_000548.5(TSC2):c.1835T>C (p.Leu612Pro)	rs1567458244
NM_000548.5(TSC2):c.1840-4A>G	rs1057523736
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp)	rs397514914
NM_000548.5(TSC2):c.1865G>C (p.Arg622Pro)	rs45517206
NM_000548.5(TSC2):c.1869C>G (p.Ala623=)	rs111244727
NM_000548.5(TSC2):c.1885C>G (p.Leu629Val)	rs570409651
NM_000548.5(TSC2):c.1903G>A (p.Asp635Asn)	rs1060500932
NM_000548.5(TSC2):c.1905T>C (p.Asp635=)	rs1596342515
NM_000548.5(TSC2):c.190A>G (p.Ile64Val)	rs397515081
NM_000548.5(TSC2):c.1912G>A (p.Val638Met)	rs587778730
NM_000548.5(TSC2):c.1914G>A (p.Val638=)	rs933464584
NM_000548.5(TSC2):c.1935C>G (p.Val645=)	rs1596342693
NM_000548.5(TSC2):c.1946+5G>T	rs766646261
NM_000548.5(TSC2):c.1947-4G>A	rs201633455
NM_000548.5(TSC2):c.1971G>A (p.Lys657=)	rs1596344117
NM_000548.5(TSC2):c.1980C>T (p.Ser660=)	rs959705365
NM_000548.5(TSC2):c.1982_1983delinsTT (p.Gly661Val)	rs137854103
NM_000548.5(TSC2):c.2001A>G (p.Thr667=)	rs1412129753
NM_000548.5(TSC2):c.2012G>A (p.Gly671Asp)	rs775881847
NM_000548.5(TSC2):c.2049_2050delinsTC (p.Val684Leu)	rs1555506150
NM_000548.5(TSC2):c.2054C>G (p.Pro685Arg)	rs959165669
NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr)	rs45486196
NM_000548.5(TSC2):c.2096A>G (p.Gln699Arg)	rs1596345229
NM_000548.5(TSC2):c.2098-6T>C	rs1057523252
NM_000548.5(TSC2):c.209C>A (p.Thr70Asn)	rs1013995962
NM_000548.5(TSC2):c.2113G>A (p.Val705Met)	rs397515241
NM_000548.5(TSC2):c.2122C>A (p.Leu708Met)	rs778040604
NM_000548.5(TSC2):c.2124G>C (p.Leu708=)	rs1596347174
NM_000548.5(TSC2):c.2136G>A (p.Arg712=)	rs995073369
NM_000548.5(TSC2):c.2152C>A (p.Arg718Ser)	rs182538665
NM_000548.5(TSC2):c.2167A>G (p.Ile723Val)	rs764725850
NM_000548.5(TSC2):c.2178C>G (p.Ser726=)	rs1380835459
NM_000548.5(TSC2):c.2180C>T (p.Pro727Leu)	rs767086409
NM_000548.5(TSC2):c.2193C>T (p.Asp731=)	rs760053529
NM_000548.5(TSC2):c.2235G>A (p.Lys745=)	rs762162898
NM_000548.5(TSC2):c.226C>T (p.His76Tyr)	rs574779350
NM_000548.5(TSC2):c.2290C>A (p.Leu764Met)	rs777614710
NM_000548.5(TSC2):c.2290C>T (p.Leu764=)	rs777614710
NM_000548.5(TSC2):c.2295C>G (p.Ala765=)	rs45509500
NM_000548.5(TSC2):c.231A>C (p.Ala77=)	rs2151026046
NM_000548.5(TSC2):c.2328C>T (p.Tyr776=)	rs45517225
NM_000548.5(TSC2):c.2332A>G (p.Asn778Asp)	rs1060500946
NM_000548.5(TSC2):c.2348C>T (p.Thr783Ile)	rs562945619
NM_000548.5(TSC2):c.2352A>G (p.Lys784=)	rs1596350666
NM_000548.5(TSC2):c.2355G>A (p.Gln785=)	rs2088708544
NM_000548.5(TSC2):c.2356-5T>G	rs796053488
NM_000548.5(TSC2):c.2409G>T (p.Gln803His)	rs1400548727
NM_000548.5(TSC2):c.2410T>C (p.Cys804Arg)	rs137853995
NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu)	rs45517236
NM_000548.5(TSC2):c.2472T>C (p.Pro824=)	rs1596356689
NM_000548.5(TSC2):c.2490C>T (p.Leu830=)	rs768573698
NM_000548.5(TSC2):c.2493G>A (p.Thr831=)	rs773645613
NM_000548.5(TSC2):c.2520C>G (p.Ala840=)	rs147683438
NM_000548.5(TSC2):c.2520C>T (p.Ala840=)	rs147683438
NM_000548.5(TSC2):c.2547T>C (p.Thr849=)	rs1596364841
NM_000548.5(TSC2):c.258G>C (p.Ala86=)	rs397514912
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser)	rs397515077
NM_000548.5(TSC2):c.2639+6T>C	rs2151382514
NM_000548.5(TSC2):c.264G>A (p.Leu88=)	rs1466279830
NM_000548.5(TSC2):c.2656G>C (p.Val886Leu)	rs999523698
NM_000548.5(TSC2):c.2658G>A (p.Val886=)	rs1035837417
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val)	rs137854155
NM_000548.5(TSC2):c.2667C>T (p.Ala889=)	rs774740459
NM_000548.5(TSC2):c.2678T>C (p.Ile893Thr)	rs796053491
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter)	rs45517099
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)	rs45517259
NM_000548.5(TSC2):c.2732T>G (p.Phe911Cys)	rs774758044
NM_000548.5(TSC2):c.2733C>T (p.Phe911=)	rs1596367012
NM_000548.5(TSC2):c.2743-10A>G	rs1060504094
NM_000548.5(TSC2):c.2751G>A (p.Arg917=)	rs1555508897
NM_000548.5(TSC2):c.2763C>T (p.Leu921=)	rs771817176
NM_000548.5(TSC2):c.2772del (p.Phe924fs)	rs1555508938
NM_000548.5(TSC2):c.2774A>G (p.Asp925Gly)	rs1555508942
NM_000548.5(TSC2):c.2780C>T (p.Thr927Ile)	rs144329595
NM_000548.5(TSC2):c.2784C>G (p.Pro928=)	rs45517267
NM_000548.5(TSC2):c.2788_2790delinsGAC (p.Lys930Asp)	rs1060500935
NM_000548.5(TSC2):c.278G>A (p.Arg93Gln)	rs1222477746
NM_000548.5(TSC2):c.2834A>G (p.Lys945Arg)	rs886051791
NM_000548.5(TSC2):c.2849C>T (p.Ala950Val)	rs780737734
NM_000548.5(TSC2):c.2859dup (p.Lys954fs)	rs796053504
NM_000548.5(TSC2):c.2916C>T (p.Ala972=)	rs751474097
NM_000548.5(TSC2):c.2926C>A (p.Arg976=)	rs769527912
NM_000548.5(TSC2):c.2927G>C (p.Arg976Pro)	rs779832805
NM_000548.5(TSC2):c.2985C>T (p.Leu995=)	rs786203324
NM_000548.5(TSC2):c.2992G>T (p.Ala998Ser)	rs1440361406
NM_000548.5(TSC2):c.2996G>C (p.Ser999Thr)	rs149808366
NM_000548.5(TSC2):c.3030G>C (p.Gln1010His)	rs776658284
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro)	rs45491698
NM_000548.5(TSC2):c.3102C>G (p.Val1034=)	rs562998574
NM_000548.5(TSC2):c.3102C>T (p.Val1034=)	rs562998574
NM_000548.5(TSC2):c.3126G>A (p.Pro1042=)	rs36078782
NM_000548.5(TSC2):c.3144C>T (p.Gly1048=)	rs772640324
NM_000548.5(TSC2):c.3177C>T (p.Thr1059=)	rs1031918517
NM_000548.5(TSC2):c.3192C>G (p.Asn1064Lys)	rs201670791
NM_000548.5(TSC2):c.31T>C (p.Leu11=)	rs978517404
NM_000548.5(TSC2):c.3210G>C (p.Thr1070=)	rs539927192
NM_000548.5(TSC2):c.3210G>T (p.Thr1070=)	rs539927192
NM_000548.5(TSC2):c.3241C>T (p.Leu1081=)	rs1555510658
NM_000548.5(TSC2):c.3255G>A (p.Ser1085=)	rs750617693
NM_000548.5(TSC2):c.3268T>C (p.Ser1090Pro)	rs1060500936
NM_000548.5(TSC2):c.3271G>A (p.Gly1091Ser)	rs796053493
NM_000548.5(TSC2):c.3276G>C (p.Pro1092=)	rs368923127
NM_000548.5(TSC2):c.3281C>T (p.Ser1094Leu)	rs397514887
NM_000548.5(TSC2):c.3284+1G>A	rs45517289
NM_000548.5(TSC2):c.3292C>T (p.Pro1098Ser)	rs772686090
NM_000548.5(TSC2):c.3304G>A (p.Val1102Met)	rs775584262
NM_000548.5(TSC2):c.3324G>A (p.Ala1108=)	rs786203392
NM_000548.5(TSC2):c.3329C>G (p.Ala1110Gly)	rs1060500923
NM_000548.5(TSC2):c.3330C>G (p.Ala1110=)	rs1555510912
NM_000548.5(TSC2):c.3358G>C (p.Val1120Leu)	rs1053311636
NM_000548.5(TSC2):c.336+5G>C	rs1057523242
NM_000548.5(TSC2):c.3365G>C (p.Arg1122Pro)	rs369536711
NM_000548.5(TSC2):c.3381G>A (p.Arg1127=)	rs1596386421
NM_000548.5(TSC2):c.340G>A (p.Glu114Lys)	rs397515021
NM_000548.5(TSC2):c.3411T>G (p.Leu1137=)	rs876660766
NM_000548.5(TSC2):c.3413G>C (p.Arg1138Pro)	rs143168379
NM_000548.5(TSC2):c.3425T>C (p.Leu1142Pro)	rs796053513
NM_000548.5(TSC2):c.3447C>A (p.Phe1149Leu)	rs1265832990
NM_000548.5(TSC2):c.3459C>G (p.Ala1153=)	rs1596389837
NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln)	rs45473098
NM_000548.5(TSC2):c.3490G>T (p.Ala1164Ser)	rs776579875
NM_000548.5(TSC2):c.3493A>G (p.Lys1165Glu)	rs375444767
NM_000548.5(TSC2):c.3505G>A (p.Ala1169Thr)	rs773900333
NM_000548.5(TSC2):c.3519C>T (p.Thr1173=)	rs754306983
NM_000548.5(TSC2):c.3543G>C (p.Thr1181=)	rs139313964
NM_000548.5(TSC2):c.3554C>T (p.Ala1185Val)	rs1057521812
NM_000548.5(TSC2):c.3565C>G (p.Leu1189Val)	rs796053476
NM_000548.5(TSC2):c.357C>G (p.Leu119=)	rs1168763677
NM_000548.5(TSC2):c.3610+1G>T	rs45517299
NM_000548.5(TSC2):c.3612G>A (p.Gly1204=)	rs1555512292
NM_000548.5(TSC2):c.3622T>G (p.Trp1208Gly)	rs45482795
NM_000548.5(TSC2):c.3645G>A (p.Pro1215=)	rs758114962
NM_000548.5(TSC2):c.366C>T (p.Leu122=)	rs1397677711
NM_000548.5(TSC2):c.3681C>T (p.Pro1227=)	rs181279399
NM_000548.5(TSC2):c.3733C>A (p.Arg1245=)	rs777489742
NM_000548.5(TSC2):c.3745C>T (p.Leu1249=)	rs1596400436
NM_000548.5(TSC2):c.3778A>G (p.Thr1260Ala)	rs1310948800
NM_000548.5(TSC2):c.3797dup (p.Pro1267fs)	rs796053505
NM_000548.5(TSC2):c.3799C>T (p.Pro1267Ser)	rs757010959
NM_000548.5(TSC2):c.3835T>C (p.Tyr1279His)	rs1449727037
NM_000548.5(TSC2):c.3846_3854del (p.Ser1282_Gly1285delinsArg)	rs997331401
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg)	rs587778732
NM_000548.5(TSC2):c.3867G>C (p.Arg1289Ser)	rs1008733639
NM_000548.5(TSC2):c.3884-17C>G	rs45517317
NM_000548.5(TSC2):c.3891C>G (p.Ala1297=)	rs373508609
NM_000548.5(TSC2):c.3936G>A (p.Val1312=)	rs876659932
NM_000548.5(TSC2):c.3956A>T (p.Asp1319Val)	rs45517322
NM_000548.5(TSC2):c.3981C>G (p.Asp1327Glu)	rs876659087
NM_000548.5(TSC2):c.3991G>C (p.Asp1331His)	rs770396146
NM_000548.5(TSC2):c.3996C>A (p.Ala1332=)	rs1421997373
NM_000548.5(TSC2):c.4005+1G>T	rs45517324
NM_000548.5(TSC2):c.4008G>T (p.Ser1336=)	rs760704956
NM_000548.5(TSC2):c.4029G>C (p.Glu1343Asp)	rs752502287
NM_000548.5(TSC2):c.4041C>T (p.Leu1347=)	rs1060504109
NM_000548.5(TSC2):c.4056G>C (p.Leu1352=)	rs772309833
NM_000548.5(TSC2):c.4067G>T (p.Gly1356Val)	rs747104864
NM_000548.5(TSC2):c.4087G>A (p.Val1363Ile)	rs751203255
NM_000548.5(TSC2):c.4089C>T (p.Val1363=)	rs1036544111
NM_000548.5(TSC2):c.4105C>A (p.Arg1369=)	rs45517328
NM_000548.5(TSC2):c.4125C>G (p.Ser1375=)	rs1050512482
NM_000548.5(TSC2):c.4134C>G (p.Pro1378=)	rs1060504081
NM_000548.5(TSC2):c.4137G>T (p.Ser1379=)	rs769653533
NM_000548.5(TSC2):c.4138C>A (p.Gln1380Lys)	rs137854045
NM_000548.5(TSC2):c.4143C>T (p.Pro1381=)	rs1555514056
NM_000548.5(TSC2):c.4155C>T (p.Ser1385=)	rs1057521540
NM_000548.5(TSC2):c.418C>T (p.Leu140=)	rs1555497657
NM_000548.5(TSC2):c.420G>A (p.Leu140=)	rs876660078
NM_000548.5(TSC2):c.4216G>A (p.Asp1406Asn)	rs147719291
NM_000548.5(TSC2):c.4216G>T (p.Asp1406Tyr)	rs147719291
NM_000548.5(TSC2):c.4312C>T (p.Arg1438Trp)	rs778925833
NM_000548.5(TSC2):c.4321C>T (p.Pro1441Ser)	rs201710642
NM_000548.5(TSC2):c.4341C>T (p.Ser1447=)	rs1060504117
NM_000548.5(TSC2):c.4351C>A (p.Arg1451Ser)	rs369553241
NM_000548.5(TSC2):c.4360A>G (p.Ser1454Gly)	rs137854366
NM_000548.5(TSC2):c.4365C>T (p.Gly1455=)	rs2090527409
NM_000548.5(TSC2):c.4409G>A (p.Arg1470His)	rs1060500969
NM_000548.5(TSC2):c.4416C>T (p.Gly1472=)	rs2090534289
NM_000548.5(TSC2):c.4420A>C (p.Arg1474=)	rs766719443
NM_000548.5(TSC2):c.4435G>A (p.Ala1479Thr)	rs777529733
NM_000548.5(TSC2):c.4452C>T (p.Ala1484=)	rs1555514573
NM_000548.5(TSC2):c.4461C>G (p.Ser1487=)	rs777104003
NM_000548.5(TSC2):c.4465G>A (p.Ala1489Thr)	rs587778740
NM_000548.5(TSC2):c.4485C>G (p.Ile1495Met)	rs1030218603
NM_000548.5(TSC2):c.4498G>A (p.Val1500Met)	rs397515167
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro)	rs45516293
NM_000548.5(TSC2):c.4527C>A (p.Phe1509Leu)	rs775919951
NM_000548.5(TSC2):c.4549C>G (p.Pro1517Ala)	rs1057522800
NM_000548.5(TSC2):c.4557G>T (p.Leu1519=)	rs1260508226
NM_000548.5(TSC2):c.4560G>T (p.Leu1520=)	rs1596423200
NM_000548.5(TSC2):c.4563C>T (p.Pro1521=)	rs989650743
NM_000548.5(TSC2):c.4589C>T (p.Ser1530Leu)	rs1567528487
NM_000548.5(TSC2):c.4605C>T (p.Asp1535=)	rs1555515283
NM_000548.5(TSC2):c.4612C>T (p.Pro1538Ser)	rs1060500930
NM_000548.5(TSC2):c.4646A>G (p.Tyr1549Cys)	rs45517355
NM_000548.5(TSC2):c.4647T>C (p.Tyr1549=)	rs397515028
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys)	rs45517360
NM_000548.5(TSC2):c.4678G>A (p.Ala1560Thr)	rs777539610
NM_000548.5(TSC2):c.4684C>T (p.Leu1562=)	rs1057523304
NM_000548.5(TSC2):c.4701C>G (p.Gly1567=)	rs763804965
NM_000548.5(TSC2):c.4709G>A (p.Arg1570Lys)	rs397514980
NM_000548.5(TSC2):c.4716G>T (p.Thr1572=)	rs369346726
NM_000548.5(TSC2):c.4728G>C (p.Thr1576=)	rs752642825
NM_000548.5(TSC2):c.4729G>A (p.Gly1577Ser)	rs796053499
NM_000548.5(TSC2):c.4747G>A (p.Glu1583Lys)	rs886039446
NM_000548.5(TSC2):c.4780C>T (p.Leu1594=)	rs45511204
NM_000548.5(TSC2):c.4795G>C (p.Val1599Leu)	rs772687631
NM_000548.5(TSC2):c.4822T>A (p.Tyr1608Asn)	rs878854111
NM_000548.5(TSC2):c.4857C>T (p.Phe1619=)	rs1596443022
NM_000548.5(TSC2):c.4861A>G (p.Ile1621Val)	rs1555516628
NM_000548.5(TSC2):c.4870C>T (p.Leu1624=)	rs786203263
NM_000548.5(TSC2):c.4900C>T (p.Arg1634Cys)	rs760457821
NM_000548.5(TSC2):c.4947C>G (p.Val1649=)	rs778989782
NM_000548.5(TSC2):c.4970T>A (p.Phe1657Tyr)	rs878854112
NM_000548.5(TSC2):c.4971C>T (p.Phe1657=)	rs1596444029
NM_000548.5(TSC2):c.4990-5G>T	rs753000765
NM_000548.5(TSC2):c.4992C>T (p.Gly1664=)	rs145002269
NM_000548.5(TSC2):c.5001C>T (p.Asn1667=)	rs551938797
NM_000548.5(TSC2):c.5017G>C (p.Val1673Leu)	rs45490993
NM_000548.5(TSC2):c.501G>C (p.Trp167Cys)	rs755728007
NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln)	rs45483392
NM_000548.5(TSC2):c.5049G>A (p.Val1683=)	rs1256890176
NM_000548.5(TSC2):c.5069-14_5069-12del	rs397514923
NM_000548.5(TSC2):c.508G>A (p.Val170Ile)	rs1596270815
NM_000548.5(TSC2):c.5109G>C (p.Val1703=)	rs770413433
NM_000548.5(TSC2):c.5115C>G (p.Asp1705Glu)	rs1385591764
NM_000548.5(TSC2):c.5161-5C>G	rs775534948
NM_000548.5(TSC2):c.5177A>C (p.His1726Pro)	rs1555440475
NM_000548.5(TSC2):c.5193C>A (p.Asn1731Lys)	rs753336580
NM_000548.5(TSC2):c.5211C>T (p.Pro1737=)	rs151298910
NM_000548.5(TSC2):c.5212del (p.Ser1738fs)	rs1596460606
NM_000548.5(TSC2):c.5219G>C (p.Trp1740Ser)	rs137854219
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln)	rs45507199
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)	rs137854218
NM_000548.5(TSC2):c.5250C>A (p.Leu1750=)	rs370353005
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter)	rs45517414
NM_000548.5(TSC2):c.5259+1del	rs137854317
NM_000548.5(TSC2):c.5261T>G (p.Ile1754Ser)	rs762320484
NM_000548.5(TSC2):c.5262C>A (p.Ile1754=)	rs397515318
NM_000548.5(TSC2):c.5269G>A (p.Glu1757Lys)	rs1060500957
NM_000548.5(TSC2):c.5272G>C (p.Ala1758Pro)	rs1555441169
NM_000548.5(TSC2):c.5279A>C (p.Tyr1760Ser)	rs1261020269
NM_000548.5(TSC2):c.5297C>T (p.Pro1766Leu)	rs748936673
NM_000548.5(TSC2):c.5316C>G (p.Ser1772=)	rs2151639594
NM_000548.5(TSC2):c.5322C>T (p.Ser1774=)	rs751622894
NM_000548.5(TSC2):c.5355A>G (p.Thr1785=)	rs1057522896
NM_000548.5(TSC2):c.5361C>A (p.Gly1787=)	rs1334165353
NM_000548.5(TSC2):c.5367G>C (p.Glu1789Asp)	rs966695764
NM_000548.5(TSC2):c.5373C>G (p.Gly1791=)	rs1555441528
NM_000548.5(TSC2):c.5377C>G (p.Arg1793Gly)	rs1473538868
NM_000548.5(TSC2):c.5380_5382dup (p.Lys1794dup)	rs137854335
NM_000548.5(TSC2):c.5397G>A (p.Ser1799=)	rs1051771
NM_000548.5(TSC2):c.540G>A (p.Leu180=)	rs1567403619
NM_000548.5(TSC2):c.5413G>A (p.Glu1805Lys)	rs376017665
NM_000548.5(TSC2):c.5422_5423del (p.Ter1808ArgextTer?)	rs137854027
NM_000548.5(TSC2):c.573C>G (p.Leu191=)	rs397515059
NM_000548.5(TSC2):c.593T>C (p.Met198Thr)	rs45517114
NM_000548.5(TSC2):c.613C>T (p.Leu205=)	rs1596275276
NM_000548.5(TSC2):c.632C>T (p.Ser211Phe)	rs878854120
NM_000548.5(TSC2):c.633C>G (p.Ser211=)	rs762659998
NM_000548.5(TSC2):c.716T>G (p.Phe239Cys)	rs778544723
NM_000548.5(TSC2):c.729C>T (p.Leu243=)	rs45473698
NM_000548.5(TSC2):c.745G>C (p.Val249Leu)	rs750649974
NM_000548.5(TSC2):c.781C>G (p.Arg261Gly)	rs45517130
NM_000548.5(TSC2):c.846C>A (p.Asp282Glu)	rs587778734
NM_000548.5(TSC2):c.849-1G>A	rs45506396
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg)	rs397515108
NM_000548.5(TSC2):c.929A>G (p.Tyr310Cys)	rs878854122
NM_000548.5(TSC2):c.947C>T (p.Pro316Leu)	rs751490043
NM_000548.5(TSC2):c.953C>T (p.Ser318Phe)	rs1060500970
NM_000548.5(TSC2):c.96G>A (p.Glu32=)	rs1567380772
NM_000642.3(AGL):c.104T>G (p.Leu35Ter)	rs1057516567
NM_000642.3(AGL):c.1169_1172del (p.Asn390fs)	rs1057516741
NM_000642.3(AGL):c.118C>T (p.Gln40Ter)	rs771961377
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer)	rs786204678
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter)	rs766536350
NM_000642.3(AGL):c.1423+1G>T	rs751952198
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter)	rs140095668
NM_000642.3(AGL):c.18_19del (p.Gln6fs)	rs113994127
NM_000642.3(AGL):c.1907C>G (p.Ser636Ter)	rs2524647813
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs)	rs1652003965
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.2457_2460del (p.Gln820fs)	rs1553187237
NM_000642.3(AGL):c.2538dup (p.Ile847fs)	rs1057516984
NM_000642.3(AGL):c.2605C>T (p.Gln869Ter)	rs1057516254
NM_000642.3(AGL):c.2670del (p.Pro891fs)	rs764591009
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter)	rs767529587
NM_000642.3(AGL):c.2894G>A (p.Trp965Ter)	rs1652877420
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.3216_3217del (p.Glu1072fs)	rs771069887
NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter)	rs1553188849
NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter)	rs786204490
NM_000642.3(AGL):c.3362+1G>A	rs1553189468
NM_000642.3(AGL):c.3362+2T>C	rs2100804114
NM_000642.3(AGL):c.344T>C (p.Val115Ala)	rs567992352
NM_000642.3(AGL):c.348_373del (p.Ala117fs)	rs1057516308
NM_000642.3(AGL):c.3589-1G>A	rs1289339080
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter)	rs775498547
NM_000642.3(AGL):c.3807dup (p.Arg1270Ter)	rs1057517017
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs)	rs867341758
NM_000642.3(AGL):c.3911del (p.Asn1304fs)	rs745757264
NM_000642.3(AGL):c.3911dup (p.Asn1304fs)	rs745757264
NM_000642.3(AGL):c.4126C>T (p.Gln1376Ter)	rs762602838
NM_000642.3(AGL):c.4165_4166del (p.Ala1388_Pro1389insTer)	rs1293077915
NM_000642.3(AGL):c.4197del (p.Ala1400fs)	rs786204595
NM_000642.3(AGL):c.4221dup (p.Leu1408fs)	rs786204655
NM_000642.3(AGL):c.4322_4323dup (p.Gly1442fs)	rs1057516994
NM_000642.3(AGL):c.4323del (p.Gly1442fs)	rs1057516994
NM_000642.3(AGL):c.4348G>T (p.Glu1450Ter)	rs1553193486
NM_000642.3(AGL):c.454G>T (p.Glu152Ter)	rs1650125542
NM_000642.3(AGL):c.500dup (p.Leu168fs)	rs1443902661
NM_000642.3(AGL):c.535_538del (p.Leu179fs)	rs794727706
NM_000642.3(AGL):c.64del (p.Leu22fs)	rs1057517057
NM_000642.3(AGL):c.664+1G>A	rs61811105
NM_000642.3(AGL):c.854del (p.Arg285fs)	rs1553184620
NM_000642.3(AGL):c.861_864del (p.Ile288fs)	rs1571243699
NM_000642.3(AGL):c.891dup (p.Leu298fs)	rs775335476
NM_000642.3(AGL):c.967C>T (p.Arg323Ter)	rs757987101
NM_000702.4(ATP1A2):c.1652-7C>A	rs200102433
NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs)	rs1330793674
NM_000709.4(BCKDHA):c.1198A>T (p.Lys400Ter)	rs863225262
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro)	rs755691417
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly)	rs398123498
NM_000709.4(BCKDHA):c.511del (p.Leu171fs)	rs762084007
NM_001006658.3(CR2):c.3189-8_3189-7del	rs112859639
NM_001006658.3(CR2):c.623_624del (p.Pro208fs)	rs747832403
NM_001006658.3(CR2):c.624C>A (p.Pro208=)	rs61759494
NM_001006658.3(CR2):c.624dup (p.Thr209fs)	rs747832403
NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs)	rs760288938
NM_001035.3(RYR2):c.9318T>G (p.Ser3106=)	rs2797436
NM_001041.4(SI):c.374-11del	rs11313475
NM_001042432.2(CLN3):c.105G>A (p.Trp35Ter)	rs386833700
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn)	rs146610181
NM_001042432.2(CLN3):c.575G>A (p.Gly192Glu)	rs386833733
NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter)	rs267606737
NM_001042432.2(CLN3):c.790+3A>C	rs386833738
NM_001042432.2(CLN3):c.816_817del (p.Glu273fs)	rs886041546
NM_001042432.2(CLN3):c.868G>T (p.Val290Leu)	rs369008702
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter)	rs121434286
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs)	rs1555610903
NM_001042492.3(NF1):c.1021G>A (p.Val341Ile)	rs1555610907
NM_001042492.3(NF1):c.1062+3A>G	rs1057521098
NM_001042492.3(NF1):c.1062G>A (p.Lys354=)	rs1131691118
NM_001042492.3(NF1):c.1063-1G>C	rs1555610955
NM_001042492.3(NF1):c.1069C>T (p.Leu357Phe)	rs1567835662
NM_001042492.3(NF1):c.1139T>G (p.Leu380Arg)	rs1555611004
NM_001042492.3(NF1):c.1183_1185+2del	rs1555611039
NM_001042492.3(NF1):c.1185+1G>T	rs864622161
NM_001042492.3(NF1):c.1185G>A (p.Lys395=)	rs1567835847
NM_001042492.3(NF1):c.1186-1G>T	rs876660782
NM_001042492.3(NF1):c.1186-2A>G	rs1373365576
NM_001042492.3(NF1):c.1186-6C>T	rs200684215
NM_001042492.3(NF1):c.122A>C (p.Glu41Ala)	rs786203038
NM_001042492.3(NF1):c.1252A>G (p.Ile418Val)	rs1597682898
NM_001042492.3(NF1):c.1260+1604A>G	rs1131691067
NM_001042492.3(NF1):c.1260+2T>C	rs1555611110
NM_001042492.3(NF1):c.1260+2T>G	rs1555611110
NM_001042492.3(NF1):c.1261-19G>A	rs1597688663
NM_001042492.3(NF1):c.1261T>G (p.Ser421Ala)	rs878853864
NM_001042492.3(NF1):c.128T>C (p.Leu43Pro)	rs1555604899
NM_001042492.3(NF1):c.1307C>T (p.Ser436Leu)	rs755190083
NM_001042492.3(NF1):c.1310T>A (p.Val437Asp)	rs876658642
NM_001042492.3(NF1):c.1310T>C (p.Val437Ala)	rs876658642
NM_001042492.3(NF1):c.1392+1G>A	rs267604791
NM_001042492.3(NF1):c.1393-2A>G	rs1555612266
NM_001042492.3(NF1):c.1465T>G (p.Tyr489Asp)	rs2066786672
NM_001042492.3(NF1):c.1496T>C (p.Leu499Pro)	rs1555612288
NM_001042492.3(NF1):c.1496T>G (p.Leu499Arg)	rs1555612288
NM_001042492.3(NF1):c.1527+1159C>T	rs878853868
NM_001042492.3(NF1):c.1527+4_1527+7del	rs1555612294
NM_001042492.3(NF1):c.1528-3C>T	rs1060500294
NM_001042492.3(NF1):c.1607C>G (p.Ser536Ter)	rs1555612859
NM_001042492.3(NF1):c.1636A>G (p.Met546Val)	rs2066877456
NM_001042492.3(NF1):c.1641+1G>A	rs1555612866
NM_001042492.3(NF1):c.1641+2T>C	rs1555612867
NM_001042492.3(NF1):c.1646T>C (p.Leu549Pro)	rs199474758
NM_001042492.3(NF1):c.1658A>G (p.His553Arg)	rs1064794274
NM_001042492.3(NF1):c.1660C>T (p.Gln554Ter)	rs953440640
NM_001042492.3(NF1):c.1661A>G (p.Gln554Arg)	rs863224656
NM_001042492.3(NF1):c.1670G>A (p.Ser557Asn)	rs1567845046
NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn)	rs1555613206
NM_001042492.3(NF1):c.1738del (p.Tyr580fs)	rs786204255
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg)	rs199474760
NM_001042492.3(NF1):c.179C>G (p.Thr60Ser)	rs1007047958
NM_001042492.3(NF1):c.17C>T (p.Pro6Leu)	rs864622210
NM_001042492.3(NF1):c.1802G>A (p.Arg601Gln)	rs1060500288
NM_001042492.3(NF1):c.1818C>T (p.Cys606=)	rs1567845937
NM_001042492.3(NF1):c.1845G>A (p.Lys615=)	rs1131691080
NM_001042492.3(NF1):c.1855A>G (p.Arg619Gly)	rs587781821
NM_001042492.3(NF1):c.1868A>G (p.His623Arg)	rs1555613555
NM_001042492.3(NF1):c.1888G>A (p.Val630Ile)	rs751795238
NM_001042492.3(NF1):c.188del (p.Lys63fs)	rs1555604939
NM_001042492.3(NF1):c.1910G>C (p.Ser637Thr)	rs749745247
NM_001042492.3(NF1):c.1954C>T (p.Arg652Cys)	rs786202436
NM_001042492.3(NF1):c.1986del (p.Asn664fs)	rs2066993468
NM_001042492.3(NF1):c.2002-5C>G	rs1165625614
NM_001042492.3(NF1):c.2015G>T (p.Gly672Val)	rs371817372
NM_001042492.3(NF1):c.2028C>G (p.Thr676=)	rs878853873
NM_001042492.3(NF1):c.2032C>A (p.Pro678Thr)	rs758691069
NM_001042492.3(NF1):c.2032C>T (p.Pro678Ser)	rs758691069
NM_001042492.3(NF1):c.2042G>A (p.Arg681Gln)	rs786201768
NM_001042492.3(NF1):c.2077A>G (p.Met693Val)	rs1555613794
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro)	rs199474761
NM_001042492.3(NF1):c.2098A>G (p.Thr700Ala)	rs1555613801
NM_001042492.3(NF1):c.2116G>A (p.Ala706Thr)	rs876658232
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg)	rs1131691095
NM_001042492.3(NF1):c.2131C>T (p.Arg711Cys)	rs1400902839
NM_001042492.3(NF1):c.2135A>G (p.His712Arg)	rs199474727
NM_001042492.3(NF1):c.2163T>A (p.Cys721Ter)	rs1555613816
NM_001042492.3(NF1):c.2189A>C (p.Asn730Thr)	rs778033578
NM_001042492.3(NF1):c.2233A>G (p.Ser745Gly)	rs786201865
NM_001042492.3(NF1):c.2239A>G (p.Met747Val)	rs1471232737
NM_001042492.3(NF1):c.2251+1G>C	rs1555613843
NM_001042492.3(NF1):c.2251+5A>T	rs786201934
NM_001042492.3(NF1):c.2251G>C (p.Gly751Arg)	rs1567847681
NM_001042492.3(NF1):c.2252-1G>C	rs587781577
NM_001042492.3(NF1):c.2252-2A>G	rs1131691105
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro)	rs199474762
NM_001042492.3(NF1):c.2288T>G (p.Leu763Arg)	rs199474762
NM_001042492.3(NF1):c.2325+4T>C	rs1555613934
NM_001042492.3(NF1):c.2326-1G>C	rs1567848100
NM_001042492.3(NF1):c.2326-2A>G	rs1555613975
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg)	rs876658853
NM_001042492.3(NF1):c.2329T>C (p.Trp777Arg)	rs876658853
NM_001042492.3(NF1):c.2330G>C (p.Trp777Ser)	rs199474745
NM_001042492.3(NF1):c.2331G>A (p.Trp777Ter)	rs1555613983
NM_001042492.3(NF1):c.2339C>A (p.Thr780Lys)	rs199474746
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg)	rs199474746
NM_001042492.3(NF1):c.234T>A (p.Asn78Lys)	rs876658354
NM_001042492.3(NF1):c.2351G>C (p.Trp784Ser)	rs2067038047
NM_001042492.3(NF1):c.2352G>C (p.Trp784Cys)	rs199474778
NM_001042492.3(NF1):c.2353G>A (p.Glu785Lys)	rs1597713756
NM_001042492.3(NF1):c.2390C>T (p.Ala797Val)	rs1181350360
NM_001042492.3(NF1):c.239A>C (p.Tyr80Ser)	rs4795581
NM_001042492.3(NF1):c.239A>G (p.Tyr80Cys)	rs4795581
NM_001042492.3(NF1):c.2409+1G>C	rs1555614022
NM_001042492.3(NF1):c.2410-13A>G	rs1567848711
NM_001042492.3(NF1):c.2410-16A>G	rs1567848704
NM_001042492.3(NF1):c.2410G>C (p.Ala804Pro)	rs761109477
NM_001042492.3(NF1):c.2440A>G (p.Lys814Glu)	rs1555614184
NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe)	rs199474785
NM_001042492.3(NF1):c.2531T>C (p.Leu844Pro)	rs137854566
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)	rs199474747
NM_001042492.3(NF1):c.2542G>A (p.Gly848Arg)	rs1060500368
NM_001042492.3(NF1):c.2542G>C (p.Gly848Arg)	rs1060500368
NM_001042492.3(NF1):c.2560C>T (p.Gln854Ter)	rs1555614261
NM_001042492.3(NF1):c.2618G>C (p.Arg873Pro)	rs949092641
NM_001042492.3(NF1):c.2641A>G (p.Met881Val)	rs1060500263
NM_001042492.3(NF1):c.2665dup (p.Thr889fs)	rs886041348
NM_001042492.3(NF1):c.2674A>T (p.Ser892Cys)	rs746324091
NM_001042492.3(NF1):c.2683A>G (p.Met895Val)	rs876659129
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro)	rs199474786
NM_001042492.3(NF1):c.2761G>A (p.Val921Met)	rs567023433
NM_001042492.3(NF1):c.2764G>A (p.Gly922Ser)	rs1135402831
NM_001042492.3(NF1):c.279T>G (p.Cys93Trp)	rs1597629882
NM_001042492.3(NF1):c.2825G>C (p.Ser942Thr)	rs1555614350
NM_001042492.3(NF1):c.2835del (p.Phe945fs)	rs1567849208
NM_001042492.3(NF1):c.2851-21_2851-17del	rs758020046
NM_001042492.3(NF1):c.2851-6_2851-3del	rs1597716256
NM_001042492.3(NF1):c.288+5G>A	rs1555605409
NM_001042492.3(NF1):c.2894T>A (p.Ile965Lys)	rs1555614438
NM_001042492.3(NF1):c.2915T>C (p.Leu972Pro)	rs1597716348
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)	rs267606606
NM_001042492.3(NF1):c.2989A>G (p.Arg997Gly)	rs2067085335
NM_001042492.3(NF1):c.2991-2A>G	rs1555614495
NM_001042492.3(NF1):c.2T>A (p.Met1Lys)	rs886041346
NM_001042492.3(NF1):c.3044T>C (p.Leu1015Pro)	rs1131691112
NM_001042492.3(NF1):c.3047G>A (p.Cys1016Tyr)	rs2067091492
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys)	rs137854553
NM_001042492.3(NF1):c.3104T>C (p.Met1035Thr)	rs137854553
NM_001042492.3(NF1):c.3113+1G>T	rs267606599
NM_001042492.3(NF1):c.3113+2T>G	rs876658997
NM_001042492.3(NF1):c.3114-2A>G	rs1428885377
NM_001042492.3(NF1):c.3118A>G (p.Lys1040Glu)	rs1555614619
NM_001042492.3(NF1):c.3197+1G>A	rs1555614653
NM_001042492.3(NF1):c.3197+9dup	rs755212937
NM_001042492.3(NF1):c.3198-314G>A	rs2067116490
NM_001042492.3(NF1):c.3198-5T>G	rs587782639
NM_001042492.3(NF1):c.3239T>C (p.Leu1080Pro)	rs1555614833
NM_001042492.3(NF1):c.3251C>G (p.Pro1084Arg)	rs1164081667
NM_001042492.3(NF1):c.3251C>T (p.Pro1084Leu)	rs1164081667
NM_001042492.3(NF1):c.3301_3302del (p.Gln1101fs)	rs1555614866
NM_001042492.3(NF1):c.3313A>T (p.Lys1105Ter)	rs1555614867
NM_001042492.3(NF1):c.3315-3C>G	rs752318318
NM_001042492.3(NF1):c.3318C>A (p.Tyr1106Ter)	rs876659289
NM_001042492.3(NF1):c.3383G>A (p.Gly1128Asp)	rs1060500325
NM_001042492.3(NF1):c.3427C>T (p.His1143Tyr)	rs1555614963
NM_001042492.3(NF1):c.3428A>G (p.His1143Arg)	rs1555614965
NM_001042492.3(NF1):c.3437T>A (p.Val1146Asp)	rs2067137147
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val)	rs1187097568
NM_001042492.3(NF1):c.3447G>A (p.Met1149Ile)	rs1064794277
NM_001042492.3(NF1):c.3447G>C (p.Met1149Ile)	rs1064794277
NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile)	rs1064794277
NM_001042492.3(NF1):c.3460A>G (p.Asn1154Asp)	rs2067137878
NM_001042492.3(NF1):c.3461A>T (p.Asn1154Ile)	rs371544233
NM_001042492.3(NF1):c.3497-1G>A	rs1555615004
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala)	rs2067142076
NM_001042492.3(NF1):c.356A>G (p.His119Arg)	rs150080742
NM_001042492.3(NF1):c.3596C>G (p.Thr1199Arg)	rs1555615047
NM_001042492.3(NF1):c.3596C>T (p.Thr1199Ile)	rs1555615047
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly)	rs199474732
NM_001042492.3(NF1):c.3671C>T (p.Ala1224Val)	rs1060500340
NM_001042492.3(NF1):c.373C>T (p.Arg125Cys)	rs876659418
NM_001042492.3(NF1):c.3764A>G (p.Gln1255Arg)	rs1555615453
NM_001042492.3(NF1):c.3778A>G (p.Met1260Val)	rs1264981144
NM_001042492.3(NF1):c.3790G>A (p.Glu1264Lys)	rs863224660
NM_001042492.3(NF1):c.3812T>C (p.Met1271Thr)	rs876659801
NM_001042492.3(NF1):c.3826del (p.Arg1276fs)	rs2067188667
NM_001042492.3(NF1):c.3827G>T (p.Arg1276Leu)	rs137854556
NM_001042492.3(NF1):c.3834C>G (p.Asn1278Lys)	rs1135402850
NM_001042492.3(NF1):c.3841G>A (p.Ala1281Thr)	rs2151438011
NM_001042492.3(NF1):c.3842C>G (p.Ala1281Gly)	rs1060500341
NM_001042492.3(NF1):c.386A>T (p.Gln129Leu)	rs1060500250
NM_001042492.3(NF1):c.3870+1G>A	rs1131691075
NM_001042492.3(NF1):c.3875A>G (p.Tyr1292Cys)	rs1060500243
NM_001042492.3(NF1):c.387G>C (p.Gln129His)	rs1390215440
NM_001042492.3(NF1):c.3892C>T (p.Gln1298Ter)	rs2067193761
NM_001042492.3(NF1):c.389A>G (p.His130Arg)	rs876660277
NM_001042492.3(NF1):c.389A>T (p.His130Leu)	rs876660277
NM_001042492.3(NF1):c.38T>C (p.Val13Ala)	rs1911556061
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter)	rs376576925
NM_001042492.3(NF1):c.3974G>C (p.Arg1325Thr)	rs863224447
NM_001042492.3(NF1):c.4010G>A (p.Arg1337Gln)	rs1060500379
NM_001042492.3(NF1):c.4016T>G (p.Leu1339Arg)	rs1567858306
NM_001042492.3(NF1):c.4022A>T (p.Gln1341Leu)	rs1555617325
NM_001042492.3(NF1):c.4043A>G (p.His1348Arg)	rs786201844
NM_001042492.3(NF1):c.4054A>T (p.Ser1352Cys)	rs1337343400
NM_001042492.3(NF1):c.4058C>T (p.Ser1353Phe)	rs1555617346
NM_001042492.3(NF1):c.4069T>C (p.Phe1357Leu)	rs1207255352
NM_001042492.3(NF1):c.4072C>T (p.Pro1358Ser)	rs1555617359
NM_001042492.3(NF1):c.4074_4075delinsAA (p.Pro1359Thr)	rs1555617362
NM_001042492.3(NF1):c.4110+3A>C	rs774669878
NM_001042492.3(NF1):c.412G>C (p.Ala138Pro)	rs1597635936
NM_001042492.3(NF1):c.4174-8_4174-6del	rs751729752
NM_001042492.3(NF1):c.4183C>T (p.Gln1395Ter)	rs1555618494
NM_001042492.3(NF1):c.4186C>T (p.Arg1396Cys)	rs1555618495
NM_001042492.3(NF1):c.4226T>C (p.Met1409Thr)	rs1555618508
NM_001042492.3(NF1):c.4231C>G (p.Leu1411Val)	rs199474789
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe)	rs199474789
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser)	rs137854554
NM_001042492.3(NF1):c.4277T>C (p.Ile1426Thr)	rs1555618549
NM_001042492.3(NF1):c.4316T>A (p.Leu1439Ter)	rs1567862071
NM_001042492.3(NF1):c.4330A>C (p.Lys1444Gln)	rs137854550
NM_001042492.3(NF1):c.4332+2T>C	rs786204207
NM_001042492.3(NF1):c.4332G>C (p.Lys1444Asn)	rs199474750
NM_001042492.3(NF1):c.4339C>T (p.Gln1447Ter)	rs1135402857
NM_001042492.3(NF1):c.4340A>C (p.Gln1447Pro)	rs786204157
NM_001042492.3(NF1):c.4341G>C (p.Gln1447His)	rs876660206
NM_001042492.3(NF1):c.4357G>T (p.Val1453Phe)	rs199474755
NM_001042492.3(NF1):c.4360C>G (p.Leu1454Val)	rs1408832954
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del)	rs267606607
NM_001042492.3(NF1):c.4378C>T (p.His1460Tyr)	rs377295676
NM_001042492.3(NF1):c.4382T>A (p.Met1461Lys)	rs754639587
NM_001042492.3(NF1):c.4412A>G (p.Asn1471Ser)	rs876658250
NM_001042492.3(NF1):c.4430+1G>C	rs773151680
NM_001042492.3(NF1):c.4431-9T>G	rs1597746884
NM_001042492.3(NF1):c.4462A>G (p.Thr1488Ala)	rs876660162
NM_001042492.3(NF1):c.4520del (p.Leu1507fs)	rs2151464729
NM_001042492.3(NF1):c.4532T>C (p.Leu1511Pro)	rs1135402864
NM_001042492.3(NF1):c.4536G>C (p.Trp1512Cys)	rs878853897
NM_001042492.3(NF1):c.4544A>G (p.Gln1515Arg)	rs1135402865
NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu)	rs1567863004
NM_001042492.3(NF1):c.4571_4572delinsAA (p.Ser1524Lys)	rs1555618860
NM_001042492.3(NF1):c.4578-20_4578-18del	rs1597748617
NM_001042492.3(NF1):c.464G>A (p.Ser155Asn)	rs1555606113
NM_001042492.3(NF1):c.4669dup (p.Thr1557fs)	rs1555619033
NM_001042492.3(NF1):c.466C>T (p.Arg156Cys)	rs755890242
NM_001042492.3(NF1):c.467G>T (p.Arg156Leu)	rs754096545
NM_001042492.3(NF1):c.469A>G (p.Ile157Val)	rs1555606118
NM_001042492.3(NF1):c.4724+1G>A	rs1555619056
NM_001042492.3(NF1):c.4744_4745del (p.Glu1582fs)	rs1555619395
NM_001042492.3(NF1):c.4787C>G (p.Ala1596Gly)	rs1567865042
NM_001042492.3(NF1):c.479+1G>T	rs1555606137
NM_001042492.3(NF1):c.479+3T>G	rs876658752
NM_001042492.3(NF1):c.47G>C (p.Arg16Pro)	rs1555594493
NM_001042492.3(NF1):c.4801G>A (p.Ala1601Thr)	rs754651519
NM_001042492.3(NF1):c.4804G>A (p.Gly1602Arg)	rs878853898
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp)	rs1060500316
NM_001042492.3(NF1):c.4832G>A (p.Arg1611Gln)	rs876659197
NM_001042492.3(NF1):c.4835+1G>A	rs1085307819
NM_001042492.3(NF1):c.4835+1G>T	rs1085307819
NM_001042492.3(NF1):c.4836-1G>A	rs1057518326
NM_001042492.3(NF1):c.484C>A (p.Gln162Lys)	rs1555607073
NM_001042492.3(NF1):c.4856A>G (p.Asn1619Ser)	rs1466167635
NM_001042492.3(NF1):c.4880T>A (p.Val1627Asp)	rs1567611231
NM_001042492.3(NF1):c.494C>G (p.Thr165Ser)	rs876660009
NM_001042492.3(NF1):c.4958G>A (p.Arg1653His)	rs763413441
NM_001042492.3(NF1):c.4998del (p.Pro1667fs)	rs1135402867
NM_001042492.3(NF1):c.5018A>G (p.Asn1673Ser)	rs1201910133
NM_001042492.3(NF1):c.5020G>A (p.Val1674Ile)	rs1555533342
NM_001042492.3(NF1):c.5026G>A (p.Ala1676Thr)	rs756450772
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del)	rs1135402868
NM_001042492.3(NF1):c.5033A>G (p.Tyr1678Cys)	rs1555533347
NM_001042492.3(NF1):c.5039A>G (p.Tyr1680Cys)	rs758361270
NM_001042492.3(NF1):c.5040T>C (p.Tyr1680=)	rs1555533351
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer)	rs1597829906
NM_001042492.3(NF1):c.5114G>A (p.Arg1705Lys)	rs876660487
NM_001042492.3(NF1):c.5146G>A (p.Ala1716Thr)	rs767469374
NM_001042492.3(NF1):c.5169A>T (p.Gln1723His)	rs864622372
NM_001042492.3(NF1):c.5191T>G (p.Leu1731Val)	rs876658602
NM_001042492.3(NF1):c.5215G>C (p.Val1739Leu)	rs876659956
NM_001042492.3(NF1):c.5221C>A (p.His1741Asn)	rs780529277
NM_001042492.3(NF1):c.5268+2T>G	rs1555533416
NM_001042492.3(NF1):c.527A>G (p.Asp176Gly)	rs1567820732
NM_001042492.3(NF1):c.5297C>G (p.Ser1766Ter)	rs1555533555
NM_001042492.3(NF1):c.5357C>A (p.Ser1786Ter)	rs1555533569
NM_001042492.3(NF1):c.5450G>A (p.Cys1817Tyr)	rs1555533589
NM_001042492.3(NF1):c.5483G>A (p.Arg1828Gln)	rs876660298
NM_001042492.3(NF1):c.5488C>G (p.Arg1830Gly)	rs797045139
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu)	rs771529172
NM_001042492.3(NF1):c.5521C>T (p.Gln1841Ter)	rs786203570
NM_001042492.3(NF1):c.5546A>T (p.Asp1849Val)	rs1170679293
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr)	rs1567820765
NM_001042492.3(NF1):c.5572G>T (p.Ala1858Ser)	rs786203416
NM_001042492.3(NF1):c.5601G>A (p.Pro1867=)	rs766322878
NM_001042492.3(NF1):c.5610-2A>T	rs1135402876
NM_001042492.3(NF1):c.5625TCT[1] (p.Leu1877del)	rs1131691081
NM_001042492.3(NF1):c.5662del (p.Ile1888fs)	rs2069449497
NM_001042492.3(NF1):c.5705C>T (p.Ala1902Val)	rs1465309384
NM_001042492.3(NF1):c.5729C>G (p.Ser1910Cys)	rs751904277
NM_001042492.3(NF1):c.5741C>A (p.Thr1914Lys)	rs1555533873
NM_001042492.3(NF1):c.5744T>C (p.Leu1915Pro)	rs1555533875
NM_001042492.3(NF1):c.5768C>A (p.Thr1923Lys)	rs786203824
NM_001042492.3(NF1):c.5787G>C (p.Glu1929Asp)	rs786202591
NM_001042492.3(NF1):c.5787G>T (p.Glu1929Asp)	rs786202591
NM_001042492.3(NF1):c.5788T>C (p.Cys1930Arg)	rs2069454402
NM_001042492.3(NF1):c.5813-1G>A	rs1057518974
NM_001042492.3(NF1):c.5854T>C (p.Trp1952Arg)	rs199474791
NM_001042492.3(NF1):c.586+5G>C	rs1060500284
NM_001042492.3(NF1):c.5867T>G (p.Leu1956Arg)	rs1597840087
NM_001042492.3(NF1):c.587-2A>G	rs1057518360
NM_001042492.3(NF1):c.58C>T (p.Gln20Ter)	rs1567786905
NM_001042492.3(NF1):c.5924T>C (p.Leu1975Pro)	rs1555534411
NM_001042492.3(NF1):c.592G>A (p.Ala198Thr)	rs1555608643
NM_001042492.3(NF1):c.5970A>G (p.Pro1990=)	rs876658601
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter)	rs876660696
NM_001042492.3(NF1):c.59A>C (p.Gln20Pro)	rs1598173901
NM_001042492.3(NF1):c.60+1G>C	rs1555594500
NM_001042492.3(NF1):c.6006G>C (p.Gln2002His)	rs1555534432
NM_001042492.3(NF1):c.61-4del	rs551568608
NM_001042492.3(NF1):c.6119C>T (p.Ser2040Phe)	rs2069671270
NM_001042492.3(NF1):c.6147+2T>C	rs1555534621
NM_001042492.3(NF1):c.6147+8C>G	rs182709912
NM_001042492.3(NF1):c.6148-1G>C	rs1555534661
NM_001042492.3(NF1):c.6148-2A>G	rs2069681259
NM_001042492.3(NF1):c.6162G>A (p.Met2054Ile)	rs876660651
NM_001042492.3(NF1):c.6221del (p.Met2074fs)	rs2069683635
NM_001042492.3(NF1):c.6293C>T (p.Ala2098Val)	rs764106639
NM_001042492.3(NF1):c.6295C>T (p.His2099Tyr)	rs1060500382
NM_001042492.3(NF1):c.633A>G (p.Ala211=)	rs876660800
NM_001042492.3(NF1):c.6355A>T (p.Arg2119Ter)	rs2151554939
NM_001042492.3(NF1):c.6365C>T (p.Thr2122Ile)	rs878853907
NM_001042492.3(NF1):c.6374T>C (p.Leu2125Pro)	rs1597843129
NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs)	rs1597843186
NM_001042492.3(NF1):c.6424A>C (p.Ser2142Arg)	rs1135402886
NM_001042492.3(NF1):c.6428-3C>G	rs374014162
NM_001042492.3(NF1):c.6462dup (p.Glu2155fs)	rs1135402888
NM_001042492.3(NF1):c.6535C>T (p.Arg2179Cys)	rs878853908
NM_001042492.3(NF1):c.655-2A>C	rs1555608734
NM_001042492.3(NF1):c.6571T>C (p.Ser2191Pro)	rs754630324
NM_001042492.3(NF1):c.6623C>G (p.Ala2208Gly)	rs1555534886
NM_001042492.3(NF1):c.6647G>T (p.Cys2216Phe)	rs1567617669
NM_001042492.3(NF1):c.6657T>G (p.Asp2219Glu)	rs786203831
NM_001042492.3(NF1):c.6669C>A (p.Cys2223Ter)	rs1555534918
NM_001042492.3(NF1):c.6675G>A (p.Trp2225Ter)	rs2069717916
NM_001042492.3(NF1):c.667T>C (p.Trp223Arg)	rs1555608740
NM_001042492.3(NF1):c.6685T>C (p.Trp2229Arg)	rs1060500342
NM_001042492.3(NF1):c.6691G>A (p.Glu2231Lys)	rs1024484381
NM_001042492.3(NF1):c.6697G>A (p.Ala2233Thr)	rs2069718829
NM_001042492.3(NF1):c.6704+4T>C	rs1555534930
NM_001042492.3(NF1):c.6705-3C>A	rs1131691079
NM_001042492.3(NF1):c.677A>C (p.Asn226Thr)	rs770339628
NM_001042492.3(NF1):c.6782A>G (p.His2261Arg)	rs201336602
NM_001042492.3(NF1):c.6784G>T (p.Gly2262Trp)	rs1392981001
NM_001042492.3(NF1):c.6805C>T (p.Arg2269Cys)	rs1555534961
NM_001042492.3(NF1):c.6819+2T>C	rs1135402894
NM_001042492.3(NF1):c.6820-6T>C	rs1597845896
NM_001042492.3(NF1):c.6833dup (p.Cys2278fs)	rs1555535027
NM_001042492.3(NF1):c.6893T>C (p.Leu2298Pro)	rs1597846070
NM_001042492.3(NF1):c.6920A>G (p.Lys2307Arg)	rs765418194
NM_001042492.3(NF1):c.6921+1G>A	rs1060500355
NM_001042492.3(NF1):c.6921+3A>G	rs1085307885
NM_001042492.3(NF1):c.6922-3C>T	rs876659438
NM_001042492.3(NF1):c.6939del (p.Ala2314fs)	rs2069790028
NM_001042492.3(NF1):c.6952G>T (p.Val2318Leu)	rs760528229
NM_001042492.3(NF1):c.6968T>C (p.Leu2323Pro)	rs1131691267
NM_001042492.3(NF1):c.7006G>T (p.Ala2336Ser)	rs587781428
NM_001042492.3(NF1):c.7027C>T (p.His2343Tyr)	rs781578248
NM_001042492.3(NF1):c.702_703inv (p.Tyr235His)
NM_001042492.3(NF1):c.703T>C (p.Tyr235His)	rs864622465
NM_001042492.3(NF1):c.7046G>T (p.Arg2349Leu)	rs864622065
NM_001042492.3(NF1):c.7057_7059del (p.Asp2353del)	rs786203558
NM_001042492.3(NF1):c.706C>G (p.Gln236Glu)	rs1597658664
NM_001042492.3(NF1):c.7090C>T (p.Arg2364Trp)	rs1567620403
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])	rs864622639
NM_001042492.3(NF1):c.7189+8dup	rs753952604
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg)	rs1135402900
NM_001042492.3(NF1):c.7190-33TTGT[7]	rs149197458
NM_001042492.3(NF1):c.7190-5T>G	rs748245325
NM_001042492.3(NF1):c.7201C>T (p.Pro2401Ser)	rs1597858372
NM_001042492.3(NF1):c.7225A>G (p.Thr2409Ala)	rs1555536021
NM_001042492.3(NF1):c.7262A>G (p.Asn2421Ser)	rs774339063
NM_001042492.3(NF1):c.7278_7279del (p.Cys2426_Asp2427delinsTer)	rs2070076932
NM_001042492.3(NF1):c.7297A>G (p.Thr2433Ala)	rs1597858568
NM_001042492.3(NF1):c.730+1G>T	rs1060500274
NM_001042492.3(NF1):c.7340AAG[1] (p.Glu2448del)	rs587781961
NM_001042492.3(NF1):c.7368A>C (p.Lys2456Asn)	rs201287021
NM_001042492.3(NF1):c.7369C>T (p.His2457Tyr)	rs768404575
NM_001042492.3(NF1):c.7373G>A (p.Arg2458Lys)	rs1555536130
NM_001042492.3(NF1):c.7415C>G (p.Pro2472Arg)	rs786202184
NM_001042492.3(NF1):c.7424C>T (p.Thr2475Ile)	rs770532573
NM_001042492.3(NF1):c.7426T>C (p.Tyr2476His)	rs864622745
NM_001042492.3(NF1):c.7429C>G (p.Pro2477Ala)	rs876658722
NM_001042492.3(NF1):c.7442G>T (p.Gly2481Val)	rs786202540
NM_001042492.3(NF1):c.7446C>A (p.Asp2482Glu)	rs876660614
NM_001042492.3(NF1):c.7458-3C>G	rs1158267419
NM_001042492.3(NF1):c.7496G>T (p.Gly2499Val)	rs375176282
NM_001042492.3(NF1):c.74C>T (p.Thr25Ile)	rs1555604874
NM_001042492.3(NF1):c.7526C>T (p.Pro2509Leu)	rs786202146
NM_001042492.3(NF1):c.7550G>A (p.Arg2517Gln)	rs755260088
NM_001042492.3(NF1):c.7581del (p.Gln2528fs)	rs878853917
NM_001042492.3(NF1):c.7594G>A (p.Ala2532Thr)	rs1555536373
NM_001042492.3(NF1):c.7635T>A (p.Asp2545Glu)	rs876659530
NM_001042492.3(NF1):c.7663A>G (p.Lys2555Glu)	rs786203792
NM_001042492.3(NF1):c.7693A>G (p.Thr2565Ala)	rs786202548
NM_001042492.3(NF1):c.7700C>G (p.Pro2567Arg)	rs754511534
NM_001042492.3(NF1):c.7767G>C (p.Gln2589His)	rs587782168
NM_001042492.3(NF1):c.7774C>A (p.His2592Asn)	rs749460130
NM_001042492.3(NF1):c.7781G>T (p.Arg2594Leu)	rs774781617
NM_001042492.3(NF1):c.7793T>C (p.Val2598Ala)	rs760531845
NM_001042492.3(NF1):c.7804A>T (p.Asn2602Tyr)	rs150657839
NM_001042492.3(NF1):c.7807G>C (p.Val2603Leu)	rs766135206
NM_001042492.3(NF1):c.784C>T (p.Arg262Cys)	rs754343223
NM_001042492.3(NF1):c.7867C>G (p.Leu2623Val)	rs1555536721
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)	rs786201367
NM_001042492.3(NF1):c.7915C>G (p.Leu2639Val)	rs1057518362
NM_001042492.3(NF1):c.7920T>G (p.Tyr2640Ter)	rs1060500333
NM_001042492.3(NF1):c.7947_7948del (p.Phe2650fs)	rs2070298589
NM_001042492.3(NF1):c.7963C>A (p.Pro2655Thr)	rs587781791
NM_001042492.3(NF1):c.7963C>T (p.Pro2655Ser)	rs587781791
NM_001042492.3(NF1):c.7970+3A>G	rs1567627282
NM_001042492.3(NF1):c.7970+4_7970+7del	rs1064794279
NM_001042492.3(NF1):c.7970+5G>T	rs1567627286
NM_001042492.3(NF1):c.8061T>C (p.Ser2687=)	rs786202936
NM_001042492.3(NF1):c.808C>T (p.Gln270Ter)	rs1555608970
NM_001042492.3(NF1):c.8138G>A (p.Arg2713Gln)	rs1170836879
NM_001042492.3(NF1):c.8161-3C>T	rs786203684
NM_001042492.3(NF1):c.8183C>T (p.Ala2728Val)	rs760973918
NM_001042492.3(NF1):c.8222C>T (p.Thr2741Met)	rs144178015
NM_001042492.3(NF1):c.8227C>G (p.Leu2743Val)	rs1597870180
NM_001042492.3(NF1):c.8477G>C (p.Ser2826Thr)	rs1057523477
NM_001042492.3(NF1):c.848A>G (p.Asp283Gly)	rs878853921
NM_001042492.3(NF1):c.8497A>C (p.Asn2833His)	rs786202863
NM_001042492.3(NF1):c.8511G>A (p.Lys2837=)	rs752398289
NM_001042492.3(NF1):c.872A>C (p.Glu291Ala)	rs876660171
NM_001042492.3(NF1):c.885T>A (p.Asn295Lys)	rs864622300
NM_001042492.3(NF1):c.888+1G>C	rs1135402799
NM_001042492.3(NF1):c.889-1G>A	rs587781517
NM_001042492.3(NF1):c.923C>G (p.Ala308Gly)	rs876660836
NM_001042492.3(NF1):c.943C>T (p.Gln315Ter)	rs766011053
NM_001042492.3(NF1):c.958G>C (p.Ala320Pro)	rs2066507272
NM_001042492.3(NF1):c.965T>C (p.Ile322Thr)	rs1417994243
NM_001042492.3(NF1):c.987A>G (p.Lys329=)	rs2066508210
NM_001042492.3(NF1):c.989C>T (p.Ala330Val)	rs1555610898
NM_001042492.3(NF1):c.999C>A (p.Tyr333Ter)	rs1466912192
NM_001042492.3(NF1):c.99A>G (p.Lys33=)	rs786203280
NM_001042702.5(PJVK):c.793C>G (p.Arg265Gly)	rs17304212
NM_001042702.5(PJVK):c.793C>T (p.Arg265Cys)	rs17304212
NM_001079802.2(FKTN):c.-45G>T	rs77013649
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn)	rs58447305
NM_001099922.3(ALG13):c.2457+15_2457+17del	rs761459857
NM_001099922.3(ALG13):c.2754ACC[17] (p.Pro944_Pro945dup)	rs750710267
NM_001099922.3(ALG13):c.3221A>G (p.Tyr1074Cys)	rs372990620
NM_001099922.3(ALG13):c.751-8_751-6del	rs765948340
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)	rs398122822
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter)	rs769148365
NM_001126108.2(SLC12A3):c.1176C>A (p.Thr392=)	rs117440321
NM_001126108.2(SLC12A3):c.1176C>T (p.Thr392=)	rs117440321
NM_001126108.2(SLC12A3):c.184G>A (p.Asp62Asn)	rs757490496
NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly)	rs200697179
NM_001126108.2(SLC12A3):c.2563A>C (p.Arg855=)	rs191194366
NM_001126108.2(SLC12A3):c.741+8C>T	rs200257610
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=)	rs72758823
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys)	rs1859859572
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3])	rs757726895
NM_001182.5(ALDH7A1):c.1301_1302del (p.Tyr434fs)	rs753671880
NM_001182.5(ALDH7A1):c.1439T>C (p.Ile480Thr)	rs886059849
NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs)	rs387906574
NM_001182.5(ALDH7A1):c.285_286insG (p.Arg96fs)	rs758414053
NM_001182.5(ALDH7A1):c.313-10C>A	rs567441242
NM_001182.5(ALDH7A1):c.859C>T (p.Gln287Ter)	rs1204010423
NM_001182.5(ALDH7A1):c.901_902del (p.Asn301fs)	rs1064794240
NM_001182.5(ALDH7A1):c.902A>T (p.Asn301Ile)	rs121912711
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)	rs886039323
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)	rs12131800
NM_001205293.3(CACNA1E):c.4882-6_4882-4del	rs560116244
NM_001232.4(CASQ2):c.546del (p.Phe182fs)	rs763955301
NM_001232.4(CASQ2):c.784-17T>G	rs2997741
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter)	rs397507556
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)	rs587779388
NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile)	rs72648929
NM_001267550.2(TTN):c.23853C>A (p.Ala7951=)	rs201766927
NM_001267550.2(TTN):c.34453+14G>A	rs397517550
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro)	rs72647876
NM_001267550.2(TTN):c.45120T>G (p.Ile15040Met)	rs74580375
NM_001267550.2(TTN):c.56910C>T (p.Gly18970=)	rs148299739
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=)	rs72646894
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp)	rs74315380
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln)	rs397516471
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)	rs45578238
NM_001276345.2(TNNT2):c.838G>A (p.Asp280Asn)	rs121964861
NM_001276345.2(TNNT2):c.851+1G>A	rs111377893
NM_001282531.3(ADNP):c.2971A>G (p.Met991Val)	rs564373258
NM_001282531.3(ADNP):c.422_424dup (p.Ser141dup)	rs577498739
NM_001351132.2(PEX5):c.147+77_147+121del
NM_001360.3(DHCR7):c.964-1G>C	rs138659167
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup)	rs782576893
NM_001365088.1(SLC12A6):c.1118+1G>A	rs762730861
NM_001365088.1(SLC12A6):c.1551G>A (p.Pro517=)	rs17236798
NM_001365088.1(SLC12A6):c.2023C>T (p.Arg675Ter)	rs121908428
NM_001365088.1(SLC12A6):c.2995_3004del (p.Gln999fs)	rs606231158
NM_001365088.1(SLC12A6):c.901del (p.Ile301fs)	rs606231157
NM_001365999.1(SZT2):c.7874-16C>G	rs72883828
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs)	rs745420974
NM_001366385.1(CARD14):c.2219+14T>A	rs8069255
NM_001367561.1(DOCK7):c.1285C>T (p.Arg429Ter)	rs1057520100
NM_001367561.1(DOCK7):c.1333C>T (p.Arg445Ter)	rs758111714
NM_001367561.1(DOCK7):c.2503A>G (p.Asn835Asp)	rs747830413
NM_001367561.1(DOCK7):c.6381-6dup	rs773882812
NM_001367624.2(ZNF469):c.10325G>C (p.Arg3442Thr)	rs199528724
NM_001367624.2(ZNF469):c.3341G>T (p.Arg1114Leu)	rs568046708
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter)	rs1553653062
NM_001370658.1(BTD):c.333del (p.Phe111fs)	rs397514356
NM_001374828.1(ARID1B):c.1629_1647del (p.Gly544fs)	rs1779004027
NM_001374828.1(ARID1B):c.2581+5G>A	rs1554298239
NM_001374828.1(ARID1B):c.2603_2606del (p.Arg868fs)	rs1085307695
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs)	rs1289067120
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)	rs797045277
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs)	rs1554237269
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter)	rs797045282
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs)	rs886041706
NM_001374828.1(ARID1B):c.6072dup (p.Lys2025Ter)	rs886041878
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter)	rs1554237658
NM_001374828.1(ARID1B):c.6199C>T (p.Arg2067Ter)	rs1028186690
NM_001378454.1(ALMS1):c.11700del (p.Lys3900fs)	rs1553421626
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs)	rs932538480
NM_001379286.1(ZNF423):c.2535C>T (p.Thr845=)	rs77996576
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu)	rs45483395
NM_001384474.1(LOXHD1):c.1894G>T (p.Gly632Cys)	rs35088381
NM_001875.5(CPS1):c.-4_-3insTTC	rs61509952
NM_001875.5(CPS1):c.3928-8del	rs397703682
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys)	rs768389398
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter)	rs794727262
NM_001918.5(DBT):c.442G>T (p.Glu148Ter)	rs1570820579
NM_001918.5(DBT):c.51+1G>T	rs398123669
NM_001918.5(DBT):c.634C>T (p.Gln212Ter)	rs1553230841
NM_001918.5(DBT):c.872G>T (p.Arg291Leu)	rs775808731
NM_001918.5(DBT):c.939G>C (p.Lys313Asn)	rs398123676
NM_002016.2(FLG):c.10255C>T (p.Arg3419Ter)	rs143418984
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)	rs61816761
NM_002016.2(FLG):c.4785_4788del (p.Ser1595fs)	rs761519693
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer)	rs578184315
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter)	rs138726443
NM_002016.2(FLG):c.7945del (p.Ser2649fs)	rs538406713
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)	rs767215758
NM_002485.5(NBN):c.105_135del (p.Ile35fs)	rs730881840
NM_002485.5(NBN):c.1124+5A>T	rs587782108
NM_002485.5(NBN):c.1142del (p.Pro381fs)	rs587781969
NM_002485.5(NBN):c.1194A>G (p.Gln398=)	rs200046373
NM_002485.5(NBN):c.1232C>G (p.Ser411Cys)	rs551032019
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs)	rs1238152597
NM_002485.5(NBN):c.1274G>A (p.Arg425Lys)	rs1060503478
NM_002485.5(NBN):c.1417C>A (p.Gln473Lys)	rs755805461
NM_002485.5(NBN):c.141_142del (p.Leu48fs)	rs750375741
NM_002485.5(NBN):c.1474C>T (p.Gln492Ter)	rs587782130
NM_002485.5(NBN):c.1515del (p.Glu505fs)	rs759232053
NM_002485.5(NBN):c.156_157del (p.Ser53fs)	rs767454740
NM_002485.5(NBN):c.163_171+3del	rs1057516772
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs)	rs766044684
NM_002485.5(NBN):c.1651dup (p.Arg551fs)	rs766044684
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)	rs864622143
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer)	rs768378152
NM_002485.5(NBN):c.1848del (p.Glu617fs)	rs1057516611
NM_002485.5(NBN):c.1891C>G (p.Leu631Val)	rs1064793477
NM_002485.5(NBN):c.1909_1910delinsTA (p.Ile637Ter)	rs1563516254
NM_002485.5(NBN):c.1915-8C>T	rs368132097
NM_002485.5(NBN):c.1974del (p.Glu658fs)	rs1057516668
NM_002485.5(NBN):c.2071-4A>T	rs746994234
NM_002485.5(NBN):c.2071-6C>A	rs768670249
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs)	rs762664474
NM_002485.5(NBN):c.2185-7T>G	rs1563497932
NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter)	rs751570713
NM_002485.5(NBN):c.27C>T (p.Gly9=)	rs1554569662
NM_002485.5(NBN):c.306del (p.Phe102fs)	rs587781305
NM_002485.5(NBN):c.315A>G (p.Lys105=)	rs13312858
NM_002485.5(NBN):c.317dup (p.Arg107fs)	rs745355767
NM_002485.5(NBN):c.36A>C (p.Gly12=)	rs1554569658
NM_002485.5(NBN):c.37+8C>T	rs1554569655
NM_002485.5(NBN):c.396A>G (p.Ile132Met)	rs1060503462
NM_002485.5(NBN):c.480+3A>G	rs756817252
NM_002485.5(NBN):c.584+2T>C	rs1586101154
NM_002485.5(NBN):c.584+6T>C	rs1554566602
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs)	rs1554564297
NM_002485.5(NBN):c.703-3T>C	rs876659566
NM_002485.5(NBN):c.737del (p.Gly246fs)	rs1811464751
NM_002485.5(NBN):c.741_742dup (p.Glu248fs)	rs864309670
NM_002485.5(NBN):c.758C>T (p.Thr253Ile)	rs61754967
NM_002485.5(NBN):c.808_809del (p.Val270fs)	rs786202490
NM_002485.5(NBN):c.872dup (p.Ser292fs)	rs1563559078
NM_002485.5(NBN):c.88_89del (p.Asn30fs)	rs587781718
NM_002485.5(NBN):c.935T>A (p.Leu312Ter)	rs371480039
NM_002485.5(NBN):c.93_94del (p.Ala32fs)	rs864622253
NM_002485.5(NBN):c.995-2A>G	rs876659521
NM_002529.4(NTRK1):c.1196-1G>A	rs764171953
NM_002529.4(NTRK1):c.1501+1G>A	rs1647858636
NM_002529.4(NTRK1):c.1754del (p.Leu585fs)	rs1571699945
NM_002529.4(NTRK1):c.1805G>A (p.Arg602Gln)	rs1647932465
NM_002529.4(NTRK1):c.2231del (p.Arg744fs)	rs2525667554
NM_002529.4(NTRK1):c.360-2A>C	rs797045059
NM_002529.4(NTRK1):c.538C>T (p.Gln180Ter)	rs1571689751
NM_003060.4(SLC22A5):c.1084del (p.Ser362fs)	rs1580892239
NM_003060.4(SLC22A5):c.1175TGC[2] (p.Leu394del)	rs386134215
NM_003060.4(SLC22A5):c.1252C>T (p.Gln418Ter)	rs1057518297
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile)	rs267607053
NM_003060.4(SLC22A5):c.1403C>G (p.Thr468Arg)	rs386134221
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe)	rs386134222
NM_003060.4(SLC22A5):c.1411C>T (p.Arg471Cys)	rs749282641
NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His)	rs386134223
NM_003060.4(SLC22A5):c.1554del (p.Asp519fs)	rs1554088578
NM_003060.4(SLC22A5):c.1556_1559dup (p.Ile521fs)	rs386134225
NM_003060.4(SLC22A5):c.1595_1604dup (p.Pro536fs)	rs796052040
NM_003060.4(SLC22A5):c.160_166dup (p.Ala56fs)	rs1057516797
NM_003060.4(SLC22A5):c.393+1G>A	rs1057517069
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp)	rs121908890
NM_003060.4(SLC22A5):c.56_57delinsCT (p.Arg19Pro)	rs1561560424
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del)	rs377767444
NM_003060.4(SLC22A5):c.653-2A>C	rs386134201
NM_003060.4(SLC22A5):c.725G>T (p.Gly242Val)	rs72552728
NM_003060.4(SLC22A5):c.760C>A (p.Arg254=)	rs121908893
NM_003060.4(SLC22A5):c.791C>G (p.Thr264Arg)	rs201262157
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys)	rs2086534839
NM_003072.5(SMARCA4):c.1645C>T (p.Arg549Cys)	rs2087030906
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys)	rs281875227
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.2777A>G (p.Asn926Ser)	rs1555778797
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)	rs797045981
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val)	rs1600388982
NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His)	rs770680174
NM_003126.4(SPTA1):c.6549-12G>A	rs857716
NM_003982.4(SLC7A7):c.1095+6T>C	rs531862402
NM_003982.4(SLC7A7):c.1263G>A (p.Pro421=)	rs1043886041
NM_003982.4(SLC7A7):c.713C>T (p.Ser238Phe)	rs386833823
NM_003982.4(SLC7A7):c.931A>G (p.Ile311Val)	rs539843065
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro)	rs387907170
NM_004525.3(LRP2):c.11568G>A (p.Pro3856=)	rs745949029
NM_004525.3(LRP2):c.169G>T (p.Ala57Ser)	rs147295930
NM_004525.3(LRP2):c.3932G>A (p.Arg1311His)	rs140748929
NM_004525.3(LRP2):c.5648+7A>C	rs775694684
NM_004525.3(LRP2):c.8699-8C>T	rs145301652
NM_004628.5(XPC):c.1000C>T (p.Pro334Ser)	rs200338014
NM_004646.4(NPHS1):c.3250del (p.Val1084fs)	rs386833935
NM_005373.3(MPL):c.972del (p.Arg325fs)	rs770457041
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)	rs397517148
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr)	rs397517150
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe)	rs574088829
NM_006015.6(ARID1A):c.3978GCA[9] (p.Gln1334dup)	rs374564889
NM_006493.4(CLN5):c.187del (p.Arg63fs)	rs1555273881
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter)	rs386833972
NM_006493.4(CLN5):c.438del (p.His148fs)	rs1555273992
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer)	rs587780315
NM_006493.4(CLN5):c.566-7A>G	rs772501269
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.100A>G (p.Asn34Asp)	rs587784390
NM_006516.4(SLC2A1):c.1199G>A (p.Arg400His)	rs776095655
NM_006516.4(SLC2A1):c.1223G>A (p.Gly408Asp)	rs1570590876
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp)	rs13306758
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp)	rs202060209
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)	rs80359818
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)	rs80359816
NM_006516.4(SLC2A1):c.505_507del (p.Leu169del)	rs80359832
NM_006516.4(SLC2A1):c.634C>T (p.Arg212Cys)	rs387907312
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)	rs80359825
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln)	rs1553155986
NM_006623.4(PHGDH):c.1117G>A (p.Ala373Thr)	rs201553627
NM_006623.4(PHGDH):c.1394del (p.Leu465fs)	rs2464204681
NM_006623.4(PHGDH):c.290+2T>C	rs886041874
NM_006623.4(PHGDH):c.2T>C (p.Met1Thr)	rs951372478
NM_006623.4(PHGDH):c.901del (p.Val301fs)	rs1571013274
NM_006912.6(RIT1):c.112A>G (p.Thr38Ala)	rs1557962699
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)	rs672601334
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr)	rs869025191
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro)	rs869025191
NM_006912.6(RIT1):c.230C>G (p.Ala77Gly)	rs1673399238
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)	rs869025193
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)	rs869025194
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)	rs730881014
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro)	rs869025195
NM_006912.6(RIT1):c.270G>A (p.Met90Ile)	rs483352822
NM_006912.6(RIT1):c.270G>C (p.Met90Ile)	rs483352822
NM_006939.4(SOS2):c.2057+19_2057+20del	rs111970905
NM_006939.4(SOS2):c.2166A>T (p.Lys722Asn)	rs769787486
NM_006939.4(SOS2):c.2217G>A (p.Lys739=)	rs186110427
NM_006939.4(SOS2):c.2217G>T (p.Lys739Asn)	rs186110427
NM_006939.4(SOS2):c.2786-18_2786-17dup	rs201957103
NM_006939.4(SOS2):c.3540TCC[4] (p.Pro1183dup)	rs765097073
NM_006939.4(SOS2):c.3735T>G (p.Asp1245Glu)	rs752525400
NM_006939.4(SOS2):c.3818G>A (p.Arg1273Gln)	rs58365465
NM_006939.4(SOS2):c.399A>C (p.Val133=)	rs144584870
NM_006939.4(SOS2):c.622G>T (p.Ala208Ser)	rs61755579
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)	rs1595001710
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)	rs797045167
NM_007214.5(SEC63):c.340-12_340-8del	rs747514864
NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu)	rs80357450
NM_012434.5(SLC17A5):c.1121del (p.Gly374fs)	rs1057517119
NM_012434.5(SLC17A5):c.1176C>T (p.Ala392=)	rs372195490
NM_012434.5(SLC17A5):c.409del (p.Met137fs)	rs794729653
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)	rs386833994
NM_013275.6(ANKRD11):c.1844C>G (p.Ala615Gly)	rs115797011
NM_013275.6(ANKRD11):c.3431C>T (p.Pro1144Leu)	rs137894790
NM_013275.6(ANKRD11):c.4236AGA[1] (p.Glu1413del)	rs778347369
NM_013275.6(ANKRD11):c.5413G>A (p.Val1805Ile)	rs151288302
NM_013275.6(ANKRD11):c.6597C>G (p.Leu2199=)	rs762643863
NM_014249.4(NR2E3):c.951del (p.Thr318fs)	rs11351249
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu)	rs144179865
NM_014363.6(SACS):c.10485G>A (p.Glu3495=)	rs757255802
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)	rs565203731
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs)	rs1057516365
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter)	rs1555249555
NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs)	rs1555249425
NM_014363.6(SACS):c.13563T>C (p.Asn4521=)	rs766497653
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)	rs752059006
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser)	rs139993038
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)	rs144267558
NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter)	rs144267558
NM_014363.6(SACS):c.382_383del (p.Glu128fs)	rs757179309
NM_014363.6(SACS):c.4986G>A (p.Thr1662=)	rs755523201
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)	rs537408260
NM_014363.6(SACS):c.6172del (p.Ser2058fs)	rs1214399996
NM_014363.6(SACS):c.699del (p.Asp235fs)	rs1415870785
NM_014363.6(SACS):c.7139del (p.Asn2380fs)	rs1057516689
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.7713A>T (p.Pro2571=)	rs557113294
NM_014363.6(SACS):c.8022T>C (p.Phe2674=)	rs34928783
NM_014363.6(SACS):c.8793del (p.Lys2931fs)	rs767871841
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)	rs767871841
NM_014363.6(SACS):c.8853T>G (p.Val2951=)	rs9552929
NM_014363.6(SACS):c.972C>A (p.Asp324Glu)	rs546652936
NM_014423.4(AFF4):c.1051-17A>C	rs55844143
NM_014625.4(NPHS2):c.1032del (p.Phe344fs)	rs1673229720
NM_014625.4(NPHS2):c.156del (p.Thr53fs)	rs1272948499
NM_014625.4(NPHS2):c.353C>T (p.Pro118Leu)	rs869025495
NM_014625.4(NPHS2):c.451+9dup	rs542240453
NM_014625.4(NPHS2):c.452del	rs1250670041
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.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.1534G>A (p.Gly512Ser)	rs141781307
NM_014795.4(ZEB2):c.1993A>G (p.Met665Val)	rs1388932284
NM_014795.4(ZEB2):c.2255C>G (p.Thr752Arg)	rs143438888
NM_014795.4(ZEB2):c.2471T>C (p.Met824Thr)	rs1553961536
NM_014795.4(ZEB2):c.2486G>A (p.Ser829Asn)	rs730881198
NM_014795.4(ZEB2):c.2495C>A (p.Ala832Asp)	rs730881179
NM_014795.4(ZEB2):c.2627A>G (p.Asp876Gly)	rs779103467
NM_014795.4(ZEB2):c.2641A>C (p.Asn881His)	rs794727922
NM_014795.4(ZEB2):c.2707G>T (p.Ala903Ser)	rs730881200
NM_014795.4(ZEB2):c.2847G>A (p.Met949Ile)	rs1703257497
NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter)	rs886041989
NM_014795.4(ZEB2):c.3067+6A>T	rs143450927
NM_014795.4(ZEB2):c.73+2T>C	rs398124282
NM_014795.4(ZEB2):c.797G>A (p.Gly266Glu)	rs1057522361
NM_014795.4(ZEB2):c.82_87del (p.Tyr28_Asp29del)	rs730881214
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter)	rs587784571
NM_014795.4(ZEB2):c.917G>A (p.Gly306Asp)	rs1703292916
NM_014795.4(ZEB2):c.9G>A (p.Gln3=)	rs149882004
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup)	rs572772837
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs)	rs750959420
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs)	rs797045067
NM_015046.7(SETX):c.6848_6851del
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val)	rs1842534708
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter)	rs1553212545
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter)	rs879255404
NM_015100.4(POGZ):c.3424C>T (p.Arg1142Ter)	rs773311942
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)	rs869320764
NM_015338.6(ASXL1):c.2895AGG[1] (p.Gly967del)	rs762939072
NM_015338.6(ASXL1):c.3965C>G (p.Pro1322Arg)	rs141930107
NM_015346.4(ZFYVE26):c.3210C>T (p.Pro1070=)	rs7156492
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro)	rs201777449
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.2T>G (p.Met1Arg)	rs574983400
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs)	rs1311416761
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)	rs121918240
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)	rs796051998
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.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.507_519del (p.Glu170fs)	rs1553162923
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)	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.619dup (p.Asp207fs)	rs765913293
NM_015506.3(MMACHC):c.626_627del (p.Val209fs)	rs1356587420
NM_015506.3(MMACHC):c.81+2T>G	rs777251123
NM_015506.3(MMACHC):c.82-11_82-8del	rs751236442
NM_015506.3(MMACHC):c.82-1G>A	rs1255179780
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter)	rs771673343
NM_015602.4(TOR1AIP1):c.830C>G (p.Ser277Ter)	rs2148480016
NM_015602.4(TOR1AIP1):c.964+1G>A	rs2274955
NM_015627.3(LDLRAP1):c.112_113del (p.Thr38fs)	rs763778803
NM_015627.3(LDLRAP1):c.143del (p.Phe48fs)	rs868193249
NM_015627.3(LDLRAP1):c.460-1G>A	rs2124688583
NM_015627.3(LDLRAP1):c.71dup (p.Gly25fs)	rs1201229554
NM_017617.5(NOTCH1):c.1045A>C (p.Thr349Pro)	rs200520088
NM_017617.5(NOTCH1):c.1567C>T (p.His523Tyr)	rs572103199
NM_017617.5(NOTCH1):c.1701C>A (p.Ile567=)	rs773932034
NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn)	rs373125283
NM_017617.5(NOTCH1):c.1741A>G (p.Lys581Glu)	rs778992111
NM_017617.5(NOTCH1):c.2326G>T (p.Val776Leu)	rs377286829
NM_017617.5(NOTCH1):c.3350A>G (p.Gln1117Arg)	rs764816819
NM_017617.5(NOTCH1):c.3579G>T (p.Gln1193His)	rs61751544
NM_017617.5(NOTCH1):c.3853G>T (p.Val1285Leu)	rs756972680
NM_017617.5(NOTCH1):c.3915G>A (p.Glu1305=)	rs1554728133
NM_017617.5(NOTCH1):c.3970G>T (p.Val1324Leu)	rs149057410
NM_017617.5(NOTCH1):c.4335C>G (p.Ile1445Met)	rs373960609
NM_017617.5(NOTCH1):c.433G>A (p.Ala145Thr)	rs1388726872
NM_017617.5(NOTCH1):c.4971C>G (p.Ser1657Arg)	rs367838230
NM_017617.5(NOTCH1):c.4971C>T (p.Ser1657=)	rs367838230
NM_017617.5(NOTCH1):c.5155G>A (p.Glu1719Lys)	rs750085425
NM_017617.5(NOTCH1):c.5438G>T (p.Trp1813Leu)	rs755659037
NM_017617.5(NOTCH1):c.5472+19G>C	rs755674060
NM_017617.5(NOTCH1):c.620G>A (p.Arg207His)	rs779118023
NM_017617.5(NOTCH1):c.6597C>G (p.Pro2199=)	rs374640663
NM_017617.5(NOTCH1):c.6739C>G (p.Leu2247Val)	rs377165086
NM_017617.5(NOTCH1):c.6767C>T (p.Ala2256Val)	rs759225800
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs)	rs199422146
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs)	rs199422147
NM_018136.5(ASPM):c.3082+1G>C	rs886041709
NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs)	rs587783239
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter)	rs1057520873
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs)	rs770540184
NM_018136.5(ASPM):c.6854_6855del (p.Leu2285fs)	rs587783259
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs)	rs587783263
NM_018136.5(ASPM):c.7160_7161del (p.Ser2387fs)	rs587783265
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs)	rs587783280
NM_018136.5(ASPM):c.9324del (p.Leu3109fs)	rs1163303148
NM_019032.6(ADAMTSL4):c.2270del (p.Gly757fs)	rs747160538
NM_020166.5(MCCC1):c.1315G>T (p.Val439Leu)	rs398124352
NM_020166.5(MCCC1):c.231G>A (p.Ala77=)	rs144230304
NM_020366.4(RPGRIP1):c.3571C>T (p.Arg1191Trp)	rs188660364
NM_020366.4(RPGRIP1):c.673del (p.His225fs)	rs752263228
NM_020699.4(GATAD2B):c.1198_1199del (p.Ser400fs)	rs1674480467
NM_020699.4(GATAD2B):c.1241G>A (p.Arg414Gln)	rs1057521041
NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter)	rs761820222
NM_020699.4(GATAD2B):c.1438C>T (p.Gln480Ter)	rs1674313030
NM_020822.3(KCNT1):c.3178-26GCCCT[2]	rs757968008
NM_020822.3(KCNT1):c.3217C>T (p.Arg1073Trp)	rs768536067
NM_020822.3(KCNT1):c.711C>G (p.Pro237=)	rs117286274
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu)	rs74145660
NM_022132.5(MCCC2):c.1567A>G (p.Ser523Gly)	rs1459143051
NM_022356.4(P3H1):c.1120G>T (p.Glu374Ter)	rs140468248
NM_022356.4(P3H1):c.1383_1389dup (p.Lys464fs)	rs137853953
NM_022356.4(P3H1):c.1839-2A>C	rs755665899
NM_022356.4(P3H1):c.1915-1G>A	rs2124077667
NM_022356.4(P3H1):c.2041C>T (p.Arg681Ter)	rs72659356
NM_022356.4(P3H1):c.2055+13C>G	rs76628300
NM_022356.4(P3H1):c.2131dup (p.Leu711fs)	rs1570452407
NM_022455.5(NSD1):c.4378+3_4378+6del	rs1562251194
NM_022455.5(NSD1):c.4498-10del	rs200890017
NM_022455.5(NSD1):c.4564G>T (p.Asp1522Tyr)	rs201483724
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr)	rs587784127
NM_022455.5(NSD1):c.4987C>T (p.Arg1663Cys)	rs587784134
NM_022455.5(NSD1):c.5304-1G>C	rs863224905
NM_022455.5(NSD1):c.5854C>T (p.Arg1952Trp)	rs886041219
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter)	rs587784173
NM_022455.5(NSD1):c.6014G>A (p.Arg2005Gln)	rs587784174
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)	rs587784177
NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys)	rs398124380
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter)	rs587784190
NM_022455.5(NSD1):c.6356A>G (p.Asp2119Gly)	rs587784191
NM_022455.5(NSD1):c.6413G>A (p.Cys2138Tyr)	rs587784195
NM_022455.5(NSD1):c.6437dup (p.Cys2146fs)	rs1554206836
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln)	rs587784200
NM_022455.5(NSD1):c.6500G>A (p.Cys2167Tyr)	rs587784205
NM_022455.5(NSD1):c.6521_6523del (p.Phe2174del)	rs587784206
NM_024685.4(BBS10):c.147G>A (p.Arg49=)	rs1592493118
NM_025099.6(CTC1):c.248_251dup (p.His84fs)	rs745467709
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter)	rs312262723
NM_025137.4(SPG11):c.1478_1482del (p.Leu493fs)	rs758015273
NM_025137.4(SPG11):c.2445-32dup	rs374899647
NM_025137.4(SPG11):c.257+17A>G	rs201878138
NM_025137.4(SPG11):c.258-6del	rs373234269
NM_025137.4(SPG11):c.2621-15dup	rs577083743
NM_025137.4(SPG11):c.3321_3324del (p.Asn1106_Cys1107insTer)	rs768131119
NM_025137.4(SPG11):c.4434+1G>A	rs1567148391
NM_025137.4(SPG11):c.4860dup (p.Lys1621fs)	rs1418873962
NM_025137.4(SPG11):c.5175del (p.Ala1726fs)	rs1060499768
NM_025137.4(SPG11):c.5844del (p.Pro1949_Leu1950insTer)	rs1323156960
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs)	rs312262776
NM_025137.4(SPG11):c.6477+4A>G	rs312262780
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs)	rs312262781
NM_025137.4(SPG11):c.6755-17_6755-15del	rs143026515
NM_025137.4(SPG11):c.6899T>G (p.Leu2300Arg)	rs371334506
NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter)	rs778305085
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser)	rs75309308
NM_025216.3(WNT10A):c.949del (p.Ala317fs)	rs775990266
NM_030787.4(CFHR5):c.206G>A (p.Arg69His)	rs375843181
NM_030787.4(CFHR5):c.384G>T (p.Ser128=)	rs147791058
NM_030787.4(CFHR5):c.427A>C (p.Thr143Pro)	rs138529008
NM_030787.4(CFHR5):c.970+2T>G	rs550747814
NM_032520.5(GNPTG):c.11G>A (p.Gly4Glu)	rs574801192
NM_032520.5(GNPTG):c.234-1G>A	rs112850896
NM_032520.5(GNPTG):c.318-1G>A	rs193302847
NM_032520.5(GNPTG):c.607dup (p.Gln203fs)	rs756225251
NM_032520.5(GNPTG):c.6G>T (p.Ala2=)	rs886051658
NM_032520.5(GNPTG):c.798C>T (p.His266=)	rs375787769
NM_032861.4(SERAC1):c.1309-18_1309-17del	rs780332152
NM_032861.4(SERAC1):c.1396A>T (p.Met466Leu)	rs115459512
NM_032861.4(SERAC1):c.1502-24dup	rs780420200
NM_032861.4(SERAC1):c.1822_1828+10delinsACCAACAGG	rs1554260851
NM_032861.4(SERAC1):c.98TAA[1] (p.Ile34del)	rs754630732
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1])	rs397517465
NM_033380.3(COL4A5):c.446del (p.Pro149fs)	rs104886054
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu)	rs35269064
NM_133259.4(LRPPRC):c.135C>T (p.Ala45=)	rs886056061
NM_133433.4(NIPBL):c.1660C>T (p.Gln554Ter)	rs1580394197
NM_133433.4(NIPBL):c.2584A>G (p.Lys862Glu)	rs1554017428
NM_133433.4(NIPBL):c.4321-15A>G	rs587783946
NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg)	rs587783948
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln)	rs80358380
NM_133433.4(NIPBL):c.5483G>A (p.Arg1828Gln)	rs587783978
NM_133433.4(NIPBL):c.64+5G>A	rs587784011
NM_133433.4(NIPBL):c.65-5A>G	rs587784012
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His)	rs587784020
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile)	rs587784023
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His)	rs587784024
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro)	rs587784030
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr)	rs587784036
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)	rs746972457
NM_152296.5(ATP1A3):c.909C>T (p.Leu303=)	rs782266448
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser)	rs563705133
NM_152564.5(VPS13B):c.7651C>T (p.Gln2551Ter)	rs2130679206
NM_177550.5(SLC13A5):c.1511del (p.Leu504fs)	rs1211773372
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly)	rs4240659
NM_182760.4(SUMF1):c.16C>T (p.Leu6=)	rs774160105
NM_182760.4(SUMF1):c.191C>A (p.Ser64Ter)	rs1421066733
NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg)	rs1064793391
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser)	rs398124560
NM_183050.4(BCKDHB):c.1022T>A (p.Ile341Asn)	rs796051939
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr)	rs398124562
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter)	rs386834234
NM_183050.4(BCKDHB):c.1144T>C (p.Cys382Arg)	rs727503822
NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter)	rs190867671
NM_183050.4(BCKDHB):c.275-2A>G	rs1554184224
NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly)	rs869312126
NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter)	rs398124573
NM_183050.4(BCKDHB):c.368del (p.Pro123fs)	rs1085307058
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg)	rs751953459
NM_183050.4(BCKDHB):c.410C>A (p.Ala137Glu)	rs776631396
NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter)	rs1772735425
NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys)	rs398124581
NM_183050.4(BCKDHB):c.51A>C (p.Ala17=)	rs376293687
NM_183050.4(BCKDHB):c.51A>G (p.Ala17=)	rs376293687
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer)	rs398124587
NM_183050.4(BCKDHB):c.633+1G>T	rs398124589
NM_183050.4(BCKDHB):c.79_89del (p.Pro27fs)	rs1057516795
NM_183050.4(BCKDHB):c.840+2T>G	rs398124596
NM_183050.4(BCKDHB):c.885del (p.Gly296fs)	rs398124599
NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs)	rs398124601
NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys)	rs1224101411
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu)	rs1554205541
NM_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.3014A>T (p.Asp1005Val)	rs369184026
NM_201253.3(CRB1):c.3299T>C (p.Ile1100Thr)	rs62635659
NM_201253.3(CRB1):c.3427del (p.Cys1143fs)	rs2125500431
NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser)	rs2125506459
NM_201253.3(CRB1):c.3878G>A (p.Trp1293Ter)	rs1665282478
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_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.1055C>T (p.Thr352Ile)	rs780308389
NM_206933.4(USH2A):c.10585+1G>A	rs2102763351
NM_206933.4(USH2A):c.10636G>A (p.Gly3546Arg)	rs1553261372
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.11231+1G>A	rs111033382
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.12067-1G>C	rs397517977
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter)	rs988693758
NM_206933.4(USH2A):c.1226G>A (p.Trp409Ter)	rs2037682180
NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del)	rs1657997491
NM_206933.4(USH2A):c.12300C>A (p.Tyr4100Ter)	rs1657997730
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg)	rs145830318
NM_206933.4(USH2A):c.12889T>C (p.Ser4297Pro)	rs1553252463
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met)	rs527236137
NM_206933.4(USH2A):c.1312_1327dup (p.Asn443fs)	rs1415157305
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_13337del (p.Glu4445_Asn4446delinsAsp)	rs775556188
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)	rs1553252388
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu)	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.13898del (p.Pro4632_Leu4633insTer)	rs1553252052
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.14791+2T>A	rs1553250050
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.1824dup (p.Glu609Ter)	rs2037013894
NM_206933.4(USH2A):c.2168-2A>G	rs993185407
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.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.4251+1G>T	rs878853405
NM_206933.4(USH2A):c.4251+1del	rs2102460236
NM_206933.4(USH2A):c.490G>T (p.Val164Phe)	rs527236123
NM_206933.4(USH2A):c.4988-2A>G	rs143521854
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.612dup (p.Arg205fs)	rs2039614529
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.6398G>A (p.Trp2133Ter)	rs727503725
NM_206933.4(USH2A):c.651+1G>A	rs1553257761
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.675_678del (p.Phe225fs)	rs2102708663
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.820C>G (p.Arg274Gly)	rs397518036
NM_206933.4(USH2A):c.8240del (p.Pro2747fs)	rs1553272201
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter)	rs1553250952
NM_206933.4(USH2A):c.8682-2A>C	rs1553271002
NM_206933.4(USH2A):c.8917_8918del (p.Leu2973fs)	rs1553268582
NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter)	rs1269642027
NM_206933.4(USH2A):c.9258+1G>T	rs748810737
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_206933.4(USH2A):c.993_994del (p.Arg331fs)	rs1571703801