Variants from Baylor Genetics with conflicting interpretations

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

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
24881	8857	72	5198	757	84	1513	6976

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

	All submitters
Baylor Genetics		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	affects	association	drug response	established risk allele	likely risk allele	pathogenic, low penetrance	protective	risk factor	other
	pathogenic	33	2786	420	16	13	19	1	1	3	1	8	1	16	20
	likely pathogenic	2410	38	813	11	2	6	1	0	1	1	0	0	3	3
	uncertain significance	140	166	1	613	170	2	0	0	0	1	0	0	5	0
	likely benign	2	2	9	0	7	0	0	0	0	0	0	0	0	0
	benign	1	0	3	5	0	0	0	0	0	0	0	0	0	0

Submitter to submitter summary #

Total submitters: 388

Download table as spreadsheet

Submitter	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
Invitae	0	6436	0	1789	464	11	313	2577
Counsyl	0	1551	0	1192	9	0	390	1591
Myriad Genetics, Inc.	0	1055	0	396	116	0	46	558
Genome-Nilou Lab	0	962	0	396	24	0	76	495
Fulgent Genetics, Fulgent Genetics	0	1550	0	354	2	0	64	420
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1514	0	341	0	0	19	360
OMIM	0	1319	0	240	0	41	68	349
Natera, Inc.	0	1705	0	198	21	0	124	343
Illumina Laboratory Services, Illumina	0	795	0	78	96	0	167	339
Revvity Omics, Revvity	0	1012	0	246	2	0	82	330
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	2	35	106	0	0	1	142
Mendelics	0	433	0	87	20	0	33	140
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	158	0	58	1	0	39	98
Institute of Human Genetics, University of Leipzig Medical Center	0	300	0	58	5	1	28	92
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	195	0	49	5	0	25	79
3billion	0	331	0	59	0	0	18	77
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	0	97	0	40	2	0	25	67
MGZ Medical Genetics Center	0	275	0	48	4	0	11	63
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	270	0	42	3	0	14	59
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	196	0	41	0	0	18	59
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	162	0	41	4	0	11	56
GeneReviews	0	554	33	18	0	0	2	53
SIB Swiss Institute of Bioinformatics	0	28	0	40	1	0	7	48
Leiden Open Variation Database	0	172	0	34	0	0	13	47
ClinGen PAH Variant Curation Expert Panel	0	145	0	40	0	0	6	46
Ocular Genomics Institute, Massachusetts Eye and Ear	0	58	0	35	0	0	11	46
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	129	0	28	0	0	17	45
GeneDx	0	163	0	33	0	0	11	43
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	111	0	31	0	0	12	43
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	83	0	24	2	0	14	40
Genomics England Pilot Project, Genomics England	0	31	0	36	0	0	4	40
ClinGen ACADVL Variant Curation Expert Panel, ClinGen	0	38	0	33	0	0	7	40
Breast Cancer Information Core (BIC) (BRCA1)	0	271	0	1	0	0	36	37
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	121	0	30	0	2	2	34
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	0	26	0	17	0	0	15	32
Genetic Services Laboratory, University of Chicago	0	165	0	23	0	0	6	29
Ambry Genetics	0	252	0	5	20	0	4	29
Genetics and Molecular Pathology, SA Pathology	0	159	0	24	0	0	5	29
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	100	0	25	0	0	3	28
Sharing Clinical Reports Project (SCRP)	0	213	0	12	4	0	12	28
Eurofins Ntd Llc (ga)	0	61	0	9	0	1	20	28
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	0	137	0	21	0	0	7	28
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	84	0	23	0	0	4	27
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center	0	2	0	0	0	24	0	24
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	10	0	14	0	0	9	23
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	0	295	0	19	3	0	0	22
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	76	0	19	1	0	2	22
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	49	0	18	0	0	4	22
Clinical Biochemistry Laboratory, Health Services Laboratory	0	52	0	21	0	0	0	21
Centogene AG - the Rare Disease Company	0	103	0	19	0	0	2	21
Sema4, Sema4	0	71	0	5	16	0	0	21
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel	0	83	0	17	0	0	4	21
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	161	0	18	0	0	3	21
PreventionGenetics, part of Exact Sciences	0	62	0	11	1	0	8	20
CeGaT Center for Human Genetics Tuebingen	0	57	0	15	0	0	5	20
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	52	0	15	0	0	6	20
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	0	35	0	17	0	0	3	20
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	38	0	16	0	0	3	19
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	87	0	6	9	1	3	19
Undiagnosed Diseases Network, NIH	0	70	0	9	0	0	10	18
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	15	0	3	0	0	13	16
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	89	0	12	0	0	4	16
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital	0	16	0	15	0	0	1	16
Laboratory of Genetics in Ophthalmology, Institut Imagine	0	47	0	15	0	0	1	16
New York Genome Center	0	87	0	10	0	1	6	16
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	0	30	0	9	1	0	5	15
Johns Hopkins Genomics, Johns Hopkins University	0	69	0	11	2	0	2	15
Lifecell International Pvt. Ltd	0	41	0	13	0	0	2	15
Suma Genomics	0	18	0	10	0	0	5	15
Division of Human Genetics, Children's Hospital of Philadelphia	0	42	0	13	0	0	1	14
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	27	0	6	0	0	8	14
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	171	0	3	5	0	6	14
Giacomini Lab, University of California, San Francisco	0	9	0	2	1	0	11	14
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	77	0	5	4	0	4	13
Department of Molecular Diagnostics, Institute of Oncology Ljubljana	0	66	0	12	0	0	1	13
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel	0	10	0	2	11	0	0	13
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	0	79	0	7	0	1	4	12
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre	0	8	0	11	1	0	0	12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	43	0	8	1	0	3	12
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	46	0	8	0	0	4	12
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	57	0	8	0	1	3	12
King Laboratory, University of Washington	0	17	0	8	0	0	3	11
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	10	0	7	0	0	5	11
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	37	0	10	0	0	1	11
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	0	294	0	11	0	0	0	11
Daryl Scott Lab, Baylor College of Medicine	0	65	0	5	1	0	5	11
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	0	29	0	9	1	0	1	11
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul	0	7	0	11	0	0	0	11
DASA	0	84	0	11	0	0	0	11
BRCAlab, Lund University	0	133	0	10	0	0	1	11
CSER _CC_NCGL, University of Washington	0	13	0	3	2	0	5	10
Department of Pathology and Laboratory Medicine, Sinai Health System	0	41	0	3	1	2	4	10
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	0	32	0	9	0	0	0	9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	80	0	4	3	0	2	9
SingHealth Duke-NUS Institute of Precision Medicine	0	9	0	4	0	0	5	9
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	44	0	9	0	0	0	9
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	0	38	0	8	0	0	1	9
Reproductive Health Research and Development, BGI Genomics	0	28	0	5	0	0	3	8
Center for Human Genetics, Inc, Center for Human Genetics, Inc	0	30	0	4	1	0	2	7
UCLA Clinical Genomics Center, UCLA	0	8	0	6	0	0	1	7
Center for Molecular Medicine, Children’s Hospital of Fudan University	0	14	0	6	0	0	1	7
Department of Pediatrics, Gifu University	0	26	0	5	0	0	2	7
deCODE genetics, Amgen	0	9	0	6	0	0	1	7
Pars Genome Lab	0	11	0	0	2	0	5	7
Centre for Inherited Metabolic Diseases, Karolinska University Hospital	0	25	0	5	0	0	1	6
Mayo Clinic Laboratories, Mayo Clinic	0	42	0	4	0	0	3	6
Inserm U 954, Faculté de Médecine de Nancy	0	2	3	3	0	0	0	6
University of Washington Center for Mendelian Genomics, University of Washington	0	1	0	6	0	0	0	6
Molecular Biology Laboratory, Fundació Puigvert	0	12	0	6	0	0	0	6
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	0	13	0	5	0	0	1	6
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen	0	23	0	4	0	0	2	6
Centre for Human Genetics	0	7	0	5	0	0	0	5
Hadassah Hebrew University Medical Center	0	8	0	5	0	0	0	5
NeuroMeGen, Hospital Clinico Santiago de Compostela	0	1	0	4	0	0	1	5
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	0	6	0	5	0	0	0	5
Color Diagnostics, LLC DBA Color Health	0	15	0	3	2	0	0	5
NIHR Bioresource Rare Diseases, University of Cambridge	0	5	0	4	0	0	1	5
Yale Center for Mendelian Genomics, Yale University	0	7	0	3	0	0	2	5
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	0	10	0	5	0	0	0	5
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,	0	0	0	3	0	0	2	5
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	0	23	0	2	1	0	2	5
Clinical Genomics Program, Stanford Medicine	0	17	0	3	0	0	2	5
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	0	0	0	2	1	2	0	5
Center for Precision Medicine, Meizhou People's Hospital	0	20	0	4	1	0	0	5
Department of Medical and Surgical Sciences, University of Bologna	0	1	0	1	4	0	0	5
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen	0	10	0	2	1	0	2	5
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital	0	19	0	4	0	0	1	5
Baylor Genetics	40656	54	0	1	0	0	3	4
Genome Diagnostics Laboratory, The Hospital for Sick Children	0	12	0	0	0	0	4	4
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	14	0	4	0	0	0	4
Elsea Laboratory, Baylor College of Medicine	0	14	0	0	0	0	4	4
Institute of Human Genetics, Cologne University	0	13	0	3	0	0	1	4
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre	0	5	0	3	0	0	1	4
Department of Medical Genetics, Oslo University Hospital	0	47	0	4	0	0	0	4
Service de Génétique Moléculaire, Hôpital Robert Debré	0	11	0	2	2	0	0	4
Duke University Health System Sequencing Clinic, Duke University Health System	0	15	0	2	0	0	2	4
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	0	1	0	4	0	0	0	4
Center of Genomic medicine, Geneva, University Hospital of Geneva	0	21	0	3	0	1	0	4
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	13	0	3	0	0	1	4
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	17	0	2	1	0	1	4
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	19	0	4	0	0	0	4
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	0	2	0	4	0	0	0	4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	56	0	3	0	0	1	4
Ding PR Lab, Sun Yat-sen University Cancer Center	0	7	0	2	0	0	2	4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	14	0	3	0	0	1	4
Baumgartner lab, University Children's Hospital Zurich	0	11	0	4	0	0	0	4
Molecular Genetics, Royal Melbourne Hospital	0	15	0	3	0	0	1	4
Eurofins-Biomnis	0	7	0	3	0	0	1	4
Arcensus	0	12	0	4	0	0	0	4
Athena Diagnostics Inc	0	20	0	3	0	0	1	3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	0	4	1	1	0	0	1	3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	0	7	0	2	0	0	1	3
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	49	0	3	0	0	0	3
Institute of Medical Molecular Genetics, University of Zurich	0	1	0	3	0	0	0	3
Quest Diagnostics Nichols Institute San Juan Capistrano	0	33	0	1	0	0	2	3
Blueprint Genetics	0	13	0	1	0	0	2	3
Familial Cancer Clinic, Veneto Institute of Oncology	0	0	0	2	0	0	1	3
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	0	6	0	2	1	0	0	3
Pathway Genomics	0	33	0	1	0	0	2	3
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	0	0	0	2	0	0	1	3
HerediLab, Inc.	0	1	0	3	0	0	0	3
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital	0	6	0	2	0	0	1	3
Kariminejad - Najmabadi Pathology & Genetics Center	0	6	0	3	0	0	0	3
Sharon lab, Hadassah-Hebrew University Medical Center	0	10	0	1	0	0	2	3
Genomic Medicine Lab, University of California San Francisco	0	23	0	3	0	0	0	3
Institute of Human Genetics, University Hospital Muenster	0	11	0	3	0	0	0	3
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University	0	3	0	3	0	0	0	3
GenomeConnect - Simons Searchlight	0	8	0	3	0	0	0	3
Paris Brain Institute, Inserm - ICM	0	12	0	2	1	0	0	3
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital	0	16	0	2	0	0	1	3
DBGen Ocular Genomics	0	11	0	2	0	0	1	3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	20	0	0	0	0	3	3
Molecular Endocrinology Laboratory, Christian Medical College	0	11	0	2	0	0	1	3
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen	0	29	0	3	0	0	0	3
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel	0	5	0	0	2	0	1	3
Collagen Diagnostic Laboratory, University of Washington	0	1	0	2	0	0	0	2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	1	0	0	0	0	2	2
Molecular Genetics Diagnostic Laboratory, Detroit Medical Center University Laboratories	0	2	0	2	0	0	0	2
Institute for Human Genetics, University Medical Center Freiburg	0	4	0	2	0	0	0	2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	0	17	0	2	0	0	0	2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	0	15	0	1	0	1	0	2
CFTR2	0	13	0	0	1	0	1	2
PXE International	0	1	0	2	0	0	0	2
LDLR-LOVD, British Heart Foundation	0	0	0	2	0	0	0	2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital	0	1	0	2	0	0	0	2
Clinical Genomics Laboratory, Washington University in St. Louis	0	10	0	2	0	0	0	2
CHU Sainte-Justine Research Center, University of Montreal	0	2	0	1	0	0	1	2
Department of Molecular and Human Genetics, Baylor College of Medicine	0	3	0	0	0	0	2	2
Institute for Integrative and Experimental Genomics, University of Luebeck	0	0	0	1	0	0	1	2
Pediatric Department, Peking University First Hospital	0	1	0	2	0	0	0	2
Laboratory of Human Genetics, Universidade de São Paulo	0	2	0	1	0	0	1	2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes	0	0	0	2	0	0	0	2
Medical Genetics, University of Parma	0	3	0	0	1	0	1	2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	0	8	0	2	0	0	0	2
Center for Human Genetics, University of Leuven	0	0	0	2	0	0	0	2
Gene Discovery Core-Manton Center, Boston Children's Hospital	0	1	0	1	0	0	1	2
Hereditary Research Laboratory, Bethlehem University	0	2	0	1	0	0	1	2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	0	1	0	2	0	0	0	2
Donald Williams Parsons Laboratory, Baylor College of Medicine	0	3	0	1	0	0	1	2
Robarts Research Institute, Western University	0	0	0	2	0	0	0	2
Medgenome Labs Pvt Ltd	0	1	0	2	0	0	0	2
Rare Disease Group, Clinical Genetics, Karolinska Institutet	0	0	0	1	0	0	2	2
Division of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center	0	11	0	2	0	0	0	2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	0	3	0	0	0	0	2	2
Pediatric Metabolic Diseases, Hacettepe University	0	4	0	2	0	0	0	2
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital	0	0	0	2	0	0	0	2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	0	2	0	2	0	0	0	2
Variantyx, Inc.	0	3	0	1	0	1	0	2
GeneID Lab - Advanced Molecular Diagnostics	0	3	0	2	0	0	0	2
Kids Research, The Children's Hospital at Westmead	0	3	0	1	0	0	1	2
Gharavi Laboratory, Columbia University	0	0	0	0	0	0	2	2
Department of Biotechnology and Microbiology, Karnatak University Dharwad	0	0	0	0	0	0	2	2
Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo	0	3	0	0	0	0	2	2
Institute of Human Genetics, Heidelberg University	0	5	0	2	0	0	0	2
University of Washington Department of Laboratory Medicine, University of Washington	0	19	0	0	2	0	0	2
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics	0	1	0	1	0	0	1	2
CFTR-France	0	14	0	2	0	0	0	2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	0	8	0	0	0	0	2	2
Division of Medical Genetics, University of Washington	0	36	0	0	0	0	2	2
Section for Clinical Neurogenetics, University of Tübingen	0	5	0	2	0	0	0	2
Istanbul Faculty of Medicine, Istanbul University	0	0	0	2	0	0	0	2
Child Health and Human Development Program, Research Institute of the McGill University Health Center	0	5	0	2	0	0	0	2
Molecular Genetics Lab, CHRU Brest	0	7	0	2	0	0	0	2
Laboratory of Molecular Genetics, Children's Memorial Health Institute	0	4	0	2	0	0	0	2
Precision Medicine Center, Zhengzhou University	0	3	0	1	0	0	1	2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli	0	1	0	2	0	0	0	2
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen	0	3	0	1	0	0	1	2
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar	0	3	0	2	0	0	0	2
Laan Lab, Human Genetics Research Group, University of Tartu	0	4	0	2	0	0	0	2
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences	0	1	0	2	0	0	0	2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University	0	3	0	2	0	0	0	2
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences	0	6	0	1	0	0	1	2
ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen	0	5	0	2	0	0	0	2
Vasylyeva lab, Texas Tech University Health Sciences Center	0	7	0	1	0	0	1	2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	0	17	0	0	0	0	1	1
Claritas Genomics	0	6	0	1	0	0	0	1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	0	26	0	0	0	0	1	1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique	0	1	0	1	0	0	0	1
Clinical Genetics, Academic Medical Center	0	8	0	1	0	0	0	1
Institute of Human Genetics, Medical University Innsbruck	0	14	0	1	0	0	0	1
Endocrinology Clinic, Seth G.S. Medical College	0	0	0	1	0	0	0	1
Eye Genetics Research Group, Children's Medical Research Institute	0	0	0	1	0	0	0	1
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	0	6	0	0	0	0	1	1
PharmGKB	0	0	0	0	0	1	0	1
Breast Cancer Information Core (BIC) (BRCA2)	0	13	0	0	0	0	1	1
RettBASE	0	6	0	0	0	0	1	1
UF de Génétique Moléculaire, Hôpital Lariboisière	0	0	0	1	0	0	0	1
ITMI	0	5	0	1	0	0	0	1
Center for Genetic Medicine Research, Children's National Medical Center	0	0	0	1	0	0	0	1
Shaikh Laboratory, University of Colorado	0	0	0	1	0	0	0	1
Center for Medical Genetics Ghent, University of Ghent	0	7	0	0	1	0	0	1
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology	0	1	0	0	0	0	1	1
Clinical Genetics and Genomics, Karolinska University Hospital	0	3	0	1	0	0	0	1
University Children's Hospital, University of Zurich	0	3	0	1	0	0	0	1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics	0	0	0	0	0	1	0	1
Diagnostic Molecular Genetics Laboratory, Memorial Sloan Kettering Cancer Center	0	0	0	1	0	0	0	1
National Institute of Mental Health and Neurosciences	0	1	0	1	0	0	0	1
Department of Hematology, University of Health Sciences	0	0	0	1	0	0	0	1
GeneKor MSA	0	17	0	1	0	0	0	1
Center for Individualized Medicine, Mayo Clinic	0	1	0	1	0	0	0	1
UW Hindbrain Malformation Research Program, University of Washington	0	8	0	1	0	0	0	1
Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute	0	0	0	1	0	0	0	1
Genome Sciences Centre, British Columbia Cancer Agency	0	0	0	1	0	0	0	1
Prenatal Medicine Munich, Prenatal Medicine Munich	0	0	0	0	0	0	1	1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	0	5	0	0	0	0	1	1
Genetic Diagnostic Laboratory, University of Szeged	0	1	0	1	0	0	0	1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	9	0	0	0	0	1	1
Laboratory of Prof. Karen Avraham, Tel Aviv University	0	3	0	1	0	0	0	1
Leeds Amelogenesis Imperfecta Research Group, University of Leeds	0	2	0	1	0	0	0	1
Neurogenetics Laboratory, GH Pitie Salpetriere APHP	0	0	0	1	0	0	0	1
Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital	0	0	0	1	0	0	0	1
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	0	2	0	1	0	0	0	1
Center for Statistical Genetics, Columbia University	0	0	0	1	0	0	1	1
Database of Curated Mutations (DoCM)	0	0	0	1	0	0	0	1
Department of Medical Genetics, University Hospital of North Norway	0	1	0	1	0	0	0	1
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	0	1	0	1	0	0	0	1
GenePathDx, GenePath diagnostics	0	5	0	1	0	0	0	1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences	0	5	0	1	0	0	0	1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	4	0	0	0	0	1	1
Institute of Human Genetics, University Hospital of Duesseldorf	0	10	0	1	0	0	0	1
Neurology Department, Peking University First Hospital	0	6	0	0	0	0	1	1
Center of Medical Genetics and Primary Health Care	0	9	0	1	0	0	0	1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix	0	0	0	1	0	0	0	1
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation	0	0	0	1	0	0	0	1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris	0	1	0	0	0	0	1	1
Muenke lab, National Institutes of Health	0	1	0	0	0	0	1	1
Phosphorus, Inc.	0	2	0	0	0	0	1	1
Embryology Laboratory, Victor Chang Cardiac Research Institute	0	0	0	0	0	0	1	1
Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse	0	1	0	1	0	0	0	1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	0	5	0	1	0	0	1	1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center	0	12	0	1	0	0	0	1
Fundacion Hipercolesterolemia Familiar	0	0	0	1	0	0	0	1
Iberoamerican FH Network	0	0	0	1	0	0	0	1
Center for Personalized Medicine, Children's Hospital Los Angeles	0	3	0	1	0	0	0	1
Institute of Cellular and Molecular Medicine, Copenhagen University	0	0	0	1	0	0	0	1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe	0	0	0	0	0	0	1	1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital	0	2	0	1	0	0	0	1
Dan Cohn Lab, University Of California Los Angeles	0	0	0	1	0	0	0	1
Unidade de Bioquimica Genetica, Centro Hospitalar do Porto	0	0	0	1	0	0	0	1
Jacobi Internal Medicine Residency Program, Jacobi Medical Center	0	0	0	1	0	0	0	1
ClinGen RASopathy Variant Curation Expert Panel	0	16	0	0	0	0	1	1
Department of Pathology and Genetics, University of Gothenburg	0	0	0	1	0	0	0	1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	0	4	0	1	0	0	0	1
Schule lab, Hertie Institute for Clinical Brain Research	0	0	0	0	0	0	1	1
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital	0	2	0	1	0	0	0	1
Laboratory of Functional Genomics, Research Centre for Medical Genetics	0	0	0	0	1	0	0	1
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux	0	0	0	0	0	0	1	1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi	0	0	0	1	0	0	1	1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano	0	2	0	0	0	0	1	1
Cancer Diagnostics Division, Gene Solutions	0	0	0	1	0	0	0	1
Raymond Lab, University of Cambridge	0	0	0	1	0	0	0	1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London	0	0	0	1	0	0	0	1
Uitto Lab, Thomas Jefferson University	0	1	0	0	0	0	1	1
Laboratory of Medical Genetics, University of Torino	0	6	0	0	0	0	1	1
Core Molecular Diagnostic Lab, McGill University Health Centre	0	0	0	1	0	0	0	1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics	0	0	0	1	0	0	0	1
Breda Genetics srl	0	10	0	1	0	0	0	1
Genetic Diseases Diagnostic Center, Koc University Hospital	0	0	0	1	0	0	0	1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea	0	4	0	1	0	0	0	1
Laboratory of Genetics and Genomics, Institute for Developing Science and Health Initiatives Foundation	0	0	0	1	0	0	0	1
Wessex Regional Genetics Laboratory, Salisbury District Hospital	0	2	0	1	0	0	0	1
Biochemistry Laboratory of CDMU, Chengde Medical University	0	4	0	1	0	0	0	1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	0	11	0	0	0	0	1	1
Medical Affairs, Dicerna Pharmaceuticals	0	0	0	0	0	0	1	1
Molecular Diagnostics, Microbiology, Virology, Parasitology and Genetics, Sofia University, St. Kliment Ohridski	0	0	0	1	0	0	0	1
Genome Medicine, Institute for Basic Research in Developmental Disabilities	0	4	0	0	0	0	1	1
Molecular Pathology and Genetics, King Abdulaziz Medical City, Ministry of National Guard - Health Affairs	0	0	0	1	0	0	0	1
ClinGen TP53 Variant Curation Expert Panel, ClinGen	0	2	0	0	1	0	0	1
NxGen MDx	0	0	0	1	0	0	0	1
Genesis Genoma Lab, Genesis Genoma Lab	0	0	0	0	1	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	1	0	1	0	0	0	1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University	0	4	0	0	1	0	0	1
MedGen Diagnostic Laboratory, MedGen Medical Centre	0	1	0	1	0	0	0	1
Center of Excellence for Medical Genomics, Chulalongkorn University	0	2	0	0	0	0	1	1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research	0	1	0	1	0	0	0	1
Rare Disease Group, University of Exeter	0	0	0	1	0	0	0	1
Reproductive Endocrine Unit, Massachusetts General Hospital	0	1	0	1	0	0	0	1
Molecular Genetics laboratory, Necker Hospital	0	0	0	1	0	0	0	1
Children’s Center Hospital, Tehran University of Medical Sciences	0	0	0	0	0	1	0	1
AiLife Diagnostics, AiLife Diagnostics	0	4	0	1	0	0	0	1
Roden Lab, Vanderbilt University Medical Center	0	0	0	1	0	0	0	1
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen	0	1	0	0	0	0	1	1
Department of Pathophysiology and Transplantation, University of Milan	0	2	0	1	0	0	0	1
Sydney Genome Diagnostics, Children's Hospital Westmead	0	3	0	1	0	0	0	1
Shieh Lab, University of California, San Francisco	0	4	0	1	0	0	0	1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital)	0	0	0	1	0	0	0	1
Pediatric Department, Xiangya Hospital, Central South University	0	7	0	1	0	0	0	1
Department of Medical Laboratory Science, Faculty of Allied Health Sciences, University of Peradeniya	0	3	0	0	0	0	1	1
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University	0	1	0	0	0	0	1	1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine	0	0	0	1	0	0	0	1
Kids Neuroscience Centre, Sydney Children's Hospitals Network	0	1	0	1	0	0	0	1
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University	0	1	0	1	0	0	0	1
Pediatric Genetics Clinic, Sheba Medical Center	0	9	0	1	0	0	0	1
Hereditary Cancer Group, L’Institut d'Investigació Biomèdica de Bellvitge	0	1	0	1	0	0	0	1
Bioinformatics Unit, Institut Pasteur de Montevideo	0	0	0	1	0	0	0	1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology	0	0	0	0	0	0	1	1
Beijing Obstetrics and Gynecology Hospital, Capital Medical University	0	0	0	1	0	0	0	1
Clinical Cancer Genomics Laboratory, City of Hope Comprehensive Cancer Center	0	0	0	1	0	0	0	1
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II	0	0	0	1	0	0	0	1
Vockley Lab, University of Pittsburgh	0	0	0	1	0	0	0	1
Nanfang Hospital, Southern Medical University	0	0	0	1	0	0	0	1
Genetic Diagnostics Department, Viafet Genomics Laboratory	0	2	0	1	0	0	0	1
Department of Neurology, Second Xiangya Hospital of Central South University	0	0	0	1	0	0	0	1
Imperial College London Diabetes Centre, Mubadala Healthcare	0	1	0	1	0	0	0	1
Human Genetics Bochum, Ruhr University Bochum	0	22	0	1	0	0	0	1
Provincial Medical Genetics Program of British Columbia, University of British Columbia	0	12	0	1	0	0	0	1
Thalassemia Center, San Luigi University Hospital	0	0	0	1	0	0	0	1
Molecular Lab, Department of Haematology, Christian Medical College	0	4	0	1	0	0	0	1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska"	0	4	0	1	0	0	0	1
IU Genetic Testing Laboratories, Indiana University School of Medicine	0	0	0	1	0	0	0	1
Institute of Neurology, Charite University of Medicine	0	0	0	0	0	0	1	1
ClinGen FBN1 Variant Curation Expert Panel, ClinGen	0	0	0	0	1	0	0	1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam	0	4	0	1	0	0	0	1
Dunham Lab, University of Washington	0	5	0	0	0	0	1	1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology	0	0	0	1	0	0	0	1
Pangenia Genomics, Pangenia Inc.	0	2	0	0	0	0	1	1
The Shared Resource Centre "Genome", Research Centre for Medical Genetics	0	5	0	1	0	0	0	1
Human Genetics Laboratory, Amsterdam University Medical Center	0	0	0	0	0	0	1	1
Payam Genetics Center, General Welfare Department of North Khorasan Province	0	2	0	1	0	0	0	1
Inherited Neuropathy Consortium Ii, University Of Miami	0	2	0	0	0	0	1	1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)	0	4	0	1	0	0	0	1
UAEU Genomics Laboratory, United Arab Emirates University	0	1	0	1	0	0	0	1
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS)	0	1	0	1	0	0	0	1
Fetal Health Research Center, Hope Generation Foundation	0	0	0	1	0	0	0	1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg	0	3	0	1	0	0	0	1
Department of Rehabilitation Medicine, Chungnam National University Hospital	0	0	0	0	0	0	1	1
Centre for Population Genomics, CPG	0	4	0	0	1	0	0	1
Coban-Akdemir Lab, University of Texas Health Science Center	0	0	0	0	0	0	1	1

All variants with conflicting interpretations #

Total variants: 6976

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly)	rs16941	0.29115
NM_000410.4(HFE):c.187C>G (p.His63Asp)	rs1799945	0.10170
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)	rs1050829	0.08672
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)	rs2070074	0.07150
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly)	rs72657698	0.06836
NM_000140.5(FECH):c.315-48T>C	rs2272783	0.06200
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)	rs1800309	0.04051
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	rs1800562	0.03880
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)	rs1801426	0.03864
NM_000402.4(G6PD):c.292G>A (p.Val98Met)	rs1050828	0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_130839.5(UBE3A):c.477A>T (p.Ala159=)	rs28528079	0.03018
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)	rs17580	0.02950
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)	rs61747728	0.02796
NM_130839.5(UBE3A):c.373T>C (p.Leu125=)	rs61734190	0.02311
NM_005105.5(RBM8A):c.-21G>A	rs139428292	0.01871
NM_000130.4(F5):c.1601G>A (p.Arg534Gln)	rs6025	0.01762
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622	0.00966
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)	rs11571707	0.00868
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)	rs17107315	0.00797
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser)	rs1800307	0.00653
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser)	rs143736974	0.00628
NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter)	rs202233735	0.00627
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met)	rs34355135	0.00560
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys)	rs149840356	0.00532
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)	rs6445	0.00530
NM_005609.4(PYGM):c.645G>A (p.Lys215=)	rs116315896	0.00530
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)	rs104895094	0.00506
NM_000110.4(DPYD):c.1905+1G>A	rs3918290	0.00474
NM_130839.5(UBE3A):c.2124+9T>C	rs79328837	0.00454
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)	rs143759519	0.00440
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	rs17879961	0.00434
NM_000435.3(NOTCH3):c.3704A>T (p.His1235Leu)	rs55882518	0.00433
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg)	rs141287105	0.00406
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	rs34557412	0.00403
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr)	rs36027220	0.00400
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp)	rs61749249	0.00399
NM_000152.5(GAA):c.-32-13T>G	rs386834236	0.00384
NM_001625.4(AK2):c.386G>A (p.Ser129Asn)	rs61750965	0.00379
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	rs104894313	0.00375
NM_052854.4(CREB3L1):c.599A>T (p.Asp200Val)	rs187725533	0.00364
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	rs77931234	0.00363
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	rs61755320	0.00361
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)	rs139548132	0.00360
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224	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_003060.4(SLC22A5):c.1463G>A (p.Arg488His)	rs28383481	0.00347
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg)	rs187401185	0.00343
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	rs36053993	0.00341
NM_000303.3(PMM2):c.422G>A (p.Arg141His)	rs28936415	0.00338
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)	rs11971167	0.00338
NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu)	rs148934699	0.00336
NM_007315.4(STAT1):c.633+6T>A	rs45459703	0.00335
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00323
NM_000781.3(CYP11A1):c.235G>A (p.Val79Ile)	rs143655263	0.00303
NM_024537.4(CARS2):c.1632C>A (p.Ser544Arg)	rs141184379	0.00297
NM_000128.4(F11):c.1304+12G>A	rs116667976	0.00295
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)	rs34324426	0.00294
NM_001370466.1(NOD2):c.485C>T (p.Thr162Met)	rs61755182	0.00291
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val)	rs144908351	0.00282
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met)	rs146097254	0.00280
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)	rs141090143	0.00278
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)	rs1800365	0.00275
NM_181078.3(IL21R):c.1033G>A (p.Gly345Ser)	rs56148525	0.00271
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg)	rs146165014	0.00270
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln)	rs41282065	0.00267
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)	rs140806722	0.00262
NM_000433.4(NCF2):c.563G>A (p.Arg188Lys)	rs115365142	0.00260
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp)	rs41307461	0.00255
NM_014339.7(IL17RA):c.1174G>T (p.Val392Leu)	rs146478431	0.00249
NM_000153.4(GALC):c.997G>A (p.Gly333Arg)	rs190921137	0.00248
NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter)	rs149484917	0.00246
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)	rs148584617	0.00244
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys)	rs35689779	0.00239
NM_006904.7(PRKDC):c.422C>G (p.Ser141Cys)	rs201231274	0.00239
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg)	rs61738009	0.00239
NM_001164508.2(NEB):c.9155G>A (p.Arg3052Gln)	rs201176993	0.00238
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro)	rs41281202	0.00236
NM_006904.7(PRKDC):c.5120T>A (p.Leu1707Gln)	rs202110076	0.00235
NM_153603.4(COG7):c.1178A>G (p.His393Arg)	rs116331296	0.00233
NM_001363.4(DKC1):c.-142C>G	rs199422241	0.00229
NM_147686.4(TRAF3IP2):c.232C>G (p.Arg78Gly)	rs73764462	0.00229
NM_001127178.3(PIGG):c.422C>T (p.Ala141Val)	rs116772777	0.00227
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val)	rs116355217	0.00225
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp)	rs144383241	0.00222
NM_020745.4(AARS2):c.1162C>T (p.Pro388Ser)	rs139372744	0.00220
NM_000135.4(FANCA):c.3514-4A>G	rs149388130	0.00219
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)	rs137932254	0.00215
NM_024884.3(L2HGDH):c.408+14T>C	rs77736285	0.00215
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00212
NM_001854.4(COL11A1):c.3384+13T>G	rs201970483	0.00210
NM_004946.3(DOCK2):c.1360G>A (p.Ala454Thr)	rs114888195	0.00210
NM_002206.3(ITGA7):c.2958+16G>A	rs200586885	0.00207
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln)	rs7437875	0.00206
NM_001364905.1(LRBA):c.194T>C (p.Ile65Thr)	rs148385798	0.00205
NM_182746.3(MCM4):c.1406G>C (p.Ser469Thr)	rs117063344	0.00202
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met)	rs191971593	0.00201
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)	rs121918007	0.00200
NM_005908.4(MANBA):c.2180C>T (p.Ser727Phe)	rs147437033	0.00195
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	rs75391579	0.00192
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	rs76763715	0.00191
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)	rs117225135	0.00190
NM_001127178.3(PIGG):c.724G>A (p.Val242Met)	rs144411585	0.00187
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)	rs139998038	0.00187
NM_003114.5(SPAG1):c.2714C>T (p.Ser905Leu)	rs142031266	0.00181
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)	rs116987552	0.00181
NM_001164508.2(NEB):c.22800+9A>G	rs144303545	0.00177
NM_001164508.2(NEB):c.23477A>G (p.Asn7826Ser)	rs143602832	0.00177
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met)	rs142433309	0.00177
NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile)	rs143107549	0.00177
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr)	rs74977201	0.00176
NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala)	rs150433001	0.00173
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu)	rs149109801	0.00172
NM_016327.3(UPB1):c.917-1G>A	rs143493067	0.00169
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr)	rs58173258	0.00169
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)	rs137854475	0.00168
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	rs34612342	0.00168
NM_014679.5(CEP57):c.677G>A (p.Arg226His)	rs143711180	0.00168
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp)	rs201580493	0.00166
NM_000018.4(ACADVL):c.1678+23C>T	rs147546456	0.00163
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)	rs145588689	0.00162
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)	rs149617956	0.00160
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	rs113994096	0.00160
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)	rs138213197	0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	rs113994094	0.00159
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)	rs28934897	0.00156
NM_000553.6(WRN):c.355+4G>C	rs145764920	0.00156
NM_007055.4(POLR3A):c.1909+22G>A	rs191875469	0.00156
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)	rs76723693	0.00154
NM_000294.3(PHKG2):c.393G>A (p.Arg131=)	rs55751949	0.00153
NM_001330078.2(NRXN1):c.772+1078A>G	rs144049982	0.00153
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys)	rs114896482	0.00151
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)	rs121912616	0.00150
NM_000199.5(SGSH):c.752G>C (p.Gly251Ala)	rs144461610	0.00148
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)	rs147231991	0.00146
NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile)	rs35967690	0.00146
NM_005502.4(ABCA1):c.3542C>T (p.Ser1181Phe)	rs76881554	0.00145
NM_003060.4(SLC22A5):c.-149G>A	rs57262206	0.00144
NM_005732.4(RAD50):c.943G>T (p.Val315Leu)	rs28903090	0.00141
NM_006567.5(FARS2):c.506A>T (p.Asp169Val)	rs146356199	0.00141
NM_014244.5(ADAMTS2):c.139+4G>A	rs1023653032	0.00140
NM_014844.5(TECPR2):c.623C>T (p.Thr208Ile)	rs144870163	0.00140
NM_000043.6(FAS):c.580G>A (p.Glu194Lys)	rs56006128	0.00138
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr)	rs201141958	0.00137
NM_001289104.2(PRKCSH):c.416G>A (p.Arg139His)	rs139991238	0.00137
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln)	rs104895464	0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)	rs1800709	0.00137
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter)	rs201754030	0.00136
NM_000081.4(LYST):c.4337G>A (p.Arg1446Gln)	rs111722949	0.00135
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)	rs74315294	0.00134
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)	rs150343959	0.00133
NM_001625.4(AK2):c.49C>G (p.Arg17Gly)	rs138577419	0.00133
NM_212552.3(BOLA3):c.258+9A>C	rs201380456	0.00133
NM_000290.4(PGAM2):c.310G>A (p.Ala104Thr)	rs150570281	0.00132
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr)	rs142614369	0.00132
NM_000553.6(WRN):c.2937T>G (p.Ile979Met)	rs147802438	0.00131
NM_001041.4(SI):c.1730T>G (p.Val577Gly)	rs121912615	0.00131
NM_001006658.3(CR2):c.2903-3C>A	rs372214909	0.00128
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg)	rs35201073	0.00128
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile)	rs144761622	0.00126
NM_001783.4(CD79A):c.419C>A (p.Thr140Asn)	rs148797987	0.00126
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)	rs79204362	0.00125
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr)	rs137868995	0.00125
NM_002185.5(IL7R):c.339A>C (p.Glu113Asp)	rs11567735	0.00125
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)	rs200300254	0.00123
NM_213607.3(CCDC103):c.461A>C (p.His154Pro)	rs145457535	0.00123
NM_001127178.3(PIGG):c.998G>A (p.Ser333Asn)	rs185712951	0.00122
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu)	rs35993949	0.00121
NM_130839.5(UBE3A):c.618A>T (p.Ala206=)	rs143484751	0.00121
NM_152383.5(DIS3L2):c.878C>A (p.Pro293His)	rs187563594	0.00121
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)	rs145138923	0.00120
NM_001379081.2(FREM1):c.4442+3G>A	rs181859461	0.00119
NM_001364905.1(LRBA):c.5754+15T>C	rs112952572	0.00118
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)	rs121908287	0.00117
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=)	rs149506027	0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)	rs1801155	0.00116
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)	rs72648958	0.00116
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile)	rs201162411	0.00116
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg)	rs142609245	0.00116
NM_013352.4(DSE):c.1961G>A (p.Arg654Gln)	rs61741781	0.00116
NM_018076.5(ODAD2):c.3086C>T (p.Ser1029Phe)	rs138588942	0.00116
NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp)	rs202232792	0.00115
NM_007254.4(PNKP):c.1029+2T>C	rs199919568	0.00115
NM_020070.4(IGLL1):c.334G>A (p.Ala112Thr)	rs149986237	0.00115
NM_032444.4(SLX4):c.590T>C (p.Val197Ala)	rs147826749	0.00115
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg)	rs150367385	0.00114
NM_001673.5(ASNS):c.1364C>T (p.Ser455Phe)	rs61733327	0.00114
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp)	rs11568514	0.00114
NM_032444.4(SLX4):c.3676C>T (p.Arg1226Trp)	rs142008398	0.00114
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)	rs28997570	0.00113
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val)	rs146739496	0.00111
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His)	rs143024324	0.00111
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)	rs201043950	0.00110
NM_004130.4(GYG1):c.304G>C (p.Asp102His)	rs143137713	0.00109
NM_018972.4(GDAP1):c.310+6del	rs780828430	0.00109
NM_000492.4(CFTR):c.2620-26A>G	rs201716473	0.00108
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val)	rs146636139	0.00108
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)	rs34988750	0.00107
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro)	rs61495246	0.00107
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)	rs104893915	0.00106
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=)	rs141671123	0.00106
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)	rs56264519	0.00105
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys)	rs145613634	0.00103
NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu)	rs146603801	0.00103
NM_000057.4(BLM):c.11T>C (p.Val4Ala)	rs144706057	0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)	rs191312027	0.00101
NM_000251.3(MSH2):c.942+2T>A	rs587779195	0.00101
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn)	rs142422990	0.00101
NM_021922.3(FANCE):c.284A>G (p.Gln95Arg)	rs149097636	0.00098
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly)	rs142872154	0.00097
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr)	rs144899305	0.00096
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)	rs121918054	0.00096
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=)	rs139082033	0.00096
NM_001371986.1(UNC80):c.9760C>A (p.Gln3254Lys)	rs189916631	0.00095
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)	rs111033690	0.00094
NM_024537.4(CARS2):c.302G>A (p.Arg101Gln)	rs112070421	0.00094
NM_002857.4(PEX19):c.16G>A (p.Glu6Lys)	rs145845197	0.00093
NM_003114.5(SPAG1):c.413T>C (p.Leu138Pro)	rs141605537	0.00093
NM_002281.4(KRT81):c.846T>A (p.Tyr282Ter)	rs138597671	0.00092
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu)	rs41303899	0.00092
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)	rs113994152	0.00092
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)	rs138629441	0.00091
NM_002591.4(PCK1):c.7C>T (p.Pro3Ser)	rs147120329	0.00091
NM_004304.5(ALK):c.4796C>A (p.Pro1599His)	rs1881423	0.00091
NM_000026.4(ADSL):c.895A>G (p.Met299Val)	rs34396910	0.00090
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)	rs74315329	0.00089
NM_006785.4(MALT1):c.649+9C>T	rs200919386	0.00088
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)	rs142572218	0.00088
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile)	rs199768740	0.00087
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val)	rs61745150	0.00086
NM_020549.5(CHAT):c.665G>C (p.Arg222Pro)	rs8178989	0.00086
NM_000553.6(WRN):c.720T>G (p.Asn240Lys)	rs148229804	0.00085
NM_000732.6(CD3D):c.52C>A (p.Gln18Lys)	rs141902449	0.00084
NM_201548.5(CERKL):c.375C>G (p.Cys125Trp)	rs200711686	0.00084
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu)	rs147017625	0.00083
NM_012472.6(DNAAF11):c.232A>G (p.Ile78Val)	rs146175329	0.00083
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)	rs142269885	0.00083
NM_138387.4(G6PC3):c.566G>A (p.Arg189Gln)	rs140294222	0.00083
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)	rs149711770	0.00081
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly)	rs61736440	0.00081
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	rs113994097	0.00081
NM_024989.4(PGAP1):c.2287G>A (p.Val763Ile)	rs143960563	0.00081
NM_152393.4(KLHL40):c.1273G>A (p.Gly425Ser)	rs138791086	0.00081
NM_199242.3(UNC13D):c.610A>G (p.Met204Val)	rs144722609	0.00081
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr)	rs201826605	0.00080
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)	rs141976414	0.00080
NM_000433.4(NCF2):c.938C>T (p.Pro313Leu)	rs137937390	0.00078
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met)	rs72954276	0.00078
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)	rs181255269	0.00078
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)	rs111033212	0.00077
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His)	rs34700927	0.00077
NM_016824.5(ADD3):c.995A>G (p.Asn332Ser)	rs41291894	0.00076
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)	rs149729531	0.00075
NM_152743.4(BRAT1):c.2147C>T (p.Ala716Val)	rs140802292	0.00075
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)	rs116135678	0.00074
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)	rs121434280	0.00073
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)	rs137932199	0.00073
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter)	rs150259543	0.00073
NM_018389.5(SLC35C1):c.748G>A (p.Gly250Arg)	rs148606857	0.00073
NM_000402.4(G6PD):c.934G>C (p.Asp312His)	rs137852318	0.00072
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)	rs11555217	0.00072
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)	rs2235006	0.00071
NM_000543.5(SMPD1):c.689G>A (p.Arg230His)	rs141387770	0.00071
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)	rs150487794	0.00071
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)	rs763672163	0.00071
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)	rs61746008	0.00070
NM_004260.4(RECQL4):c.1868G>A (p.Arg623His)	rs201734382	0.00070
NM_005797.4(MPZL2):c.72del (p.Ile24fs)	rs752672077	0.00069
NM_012073.5(CCT5):c.166+8del	rs773556943	0.00069
NM_014339.7(IL17RA):c.1232C>T (p.Ala411Val)	rs151166583	0.00069
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)	rs199504211	0.00069
NM_000443.4(ABCB4):c.696C>T (p.Ala232=)	rs8187791	0.00068
NM_005787.6(ALG3):c.1084G>A (p.Val362Ile)	rs186946267	0.00068
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg)	rs143205296	0.00068
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)	rs121908529	0.00067
NM_015971.4(MRPS7):c.550A>G (p.Met184Val)	rs115047866	0.00067
NM_024513.4(FYCO1):c.4151C>G (p.Ala1384Gly)	rs149783680	0.00067
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu)	rs150334966	0.00066
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)	rs201652272	0.00066
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser)	rs139203363	0.00066
NM_004006.3(DMD):c.4233+2C>T	rs147474070	0.00066
NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp)	rs138437966	0.00066
NM_021067.5(GINS1):c.247C>T (p.Arg83Cys)	rs137901350	0.00066
NM_198076.6(COX20):c.157+3G>C	rs367956888	0.00066
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu)	rs142994610	0.00065
NM_001605.3(AARS1):c.2580G>A (p.Leu860=)	rs145581652	0.00065
NM_013339.4(ALG6):c.257+5G>A	rs199682486	0.00065
NM_000026.4(ADSL):c.403-4G>A	rs373652667	0.00064
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)	rs33947415	0.00064
NM_000642.3(AGL):c.334A>G (p.Ile112Val)	rs147024351	0.00064
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)	rs143994166	0.00064
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr)	rs199784139	0.00064
NM_007126.5(VCP):c.1584C>T (p.Ala528=)	rs147623367	0.00064
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His)	rs119484086	0.00064
NM_018714.3(COG1):c.1282-3T>C	rs188853520	0.00064
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly)	rs143990563	0.00064
NM_001086521.2(NDUFAF8):c.195+271C>T	rs745332456	0.00063
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)	rs145843073	0.00063
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val)	rs200074974	0.00062
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)	rs145303331	0.00062
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr)	rs151201155	0.00061
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)	rs549794342	0.00061
NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser)	rs141874052	0.00061
NM_018062.4(FANCL):c.203G>C (p.Arg68Pro)	rs143819820	0.00061
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)	rs386834233	0.00061
NM_001271938.2(MEGF8):c.3154T>C (p.Trp1052Arg)	rs202039332	0.00060
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)	rs58639322	0.00060
NM_198578.4(LRRK2):c.5606T>C (p.Met1869Thr)	rs35602796	0.00060
NM_001006658.3(CR2):c.1676G>A (p.Gly559Glu)	rs143614333	0.00058
NM_001481.3(GAS8):c.841G>C (p.Asp281His)	rs139167960	0.00058
NM_000153.4(GALC):c.349A>G (p.Met117Val)	rs145580093	0.00057
NM_001040716.2(PC):c.3107G>A (p.Arg1036His)	rs141237842	0.00057
NM_004064.5(CDKN1B):c.356T>C (p.Ile119Thr)	rs142833529	0.00057
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)	rs150591260	0.00057
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly)	rs148725540	0.00056
NM_000355.4(TCN2):c.784G>C (p.Glu262Gln)	rs61743653	0.00056
NM_004946.3(DOCK2):c.2939T>C (p.Ile980Thr)	rs148694888	0.00056
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser)	rs149017703	0.00056
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)	rs143319805	0.00056
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)	rs141103838	0.00056
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)	rs148660051	0.00056
NM_000027.4(AGA):c.488G>C (p.Cys163Ser)	rs121964904	0.00055
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp)	rs139002130	0.00055
NM_003977.4(AIP):c.807C>T (p.Phe269=)	rs139407567	0.00055
NM_006295.3(VARS1):c.3650G>A (p.Arg1217His)	rs368075745	0.00055
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala)	rs143389605	0.00055
NM_206933.4(USH2A):c.2299del (p.Glu767fs)	rs80338903	0.00055
NM_000214.3(JAG1):c.133G>T (p.Val45Leu)	rs183974372	0.00054
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp)	rs143218168	0.00054
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg)	rs28931583	0.00054
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val)	rs202209668	0.00054
NM_001556.3(IKBKB):c.887C>T (p.Pro296Leu)	rs186203343	0.00054
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)	rs74315342	0.00054
NM_017570.5(OPLAH):c.1372G>A (p.Val458Met)	rs144920839	0.00054
NM_130839.5(UBE3A):c.1404A>G (p.Thr468=)	rs150331504	0.00054
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)	rs34640941	0.00053
NM_000070.3(CAPN3):c.2380+19C>T	rs141234995	0.00053
NM_000391.4(TPP1):c.509-1G>C	rs56144125	0.00053
NM_017668.3(NDE1):c.872C>T (p.Ser291Phe)	rs146284370	0.00053
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)	rs202088921	0.00052
NM_007126.5(VCP):c.*4G>T	rs201091341	0.00052
NM_024079.5(ALG8):c.478+1G>A	rs139832787	0.00052
NM_000016.6(ACADM):c.600-18G>A	rs370523609	0.00051
NM_000372.5(TYR):c.1037-7T>A	rs61754381	0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)	rs61754388	0.00051
NM_199242.3(UNC13D):c.2553+5C>G	rs201930023	0.00051
NM_001164508.2(NEB):c.23524C>T (p.Arg7842Cys)	rs184516994	0.00050
NM_001369369.1(FOXN1):c.1184C>T (p.Pro395Leu)	rs199739943	0.00050
NM_000277.3(PAH):c.734T>C (p.Val245Ala)	rs76212747	0.00049
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu)	rs139287784	0.00049
NM_000402.4(G6PD):c.632A>T (p.Asp211Val)	rs5030872	0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	rs137852944	0.00048
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)	rs143671872	0.00047
NM_002485.5(NBN):c.628G>T (p.Val210Phe)	rs61754796	0.00047
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu)	rs149533093	0.00047
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	rs76434661	0.00047
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter)	rs137891647	0.00047
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)	rs72554665	0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)	rs387906309	0.00046
NM_001130987.2(DYSF):c.2697+1G>A	rs140108514	0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	rs80338685	0.00046
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His)	rs80356892	0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	rs199605265	0.00046
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly)	rs200166942	0.00045
NM_001379659.1(ZNF142):c.25C>T (p.Gln9Ter)	rs200699349	0.00045
NM_020549.5(CHAT):c.605T>G (p.Met202Arg)	rs376808313	0.00045
NM_020320.5(RARS2):c.773G>A (p.Arg258His)	rs145297855	0.00044
NM_020708.5(SLC12A5):c.887G>A (p.Arg296His)	rs114371269	0.00044
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)	rs200179145	0.00044
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)	rs121918170	0.00043
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)	rs201082652	0.00043
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser)	rs141551053	0.00043
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His)	rs148312697	0.00043
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys)	rs141367100	0.00042
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)	rs190521996	0.00042
NM_001267550.2(TTN):c.39044-9T>A	rs184888200	0.00042
NM_001370658.1(BTD):c.68A>G (p.His23Arg)	rs146011150	0.00042
NM_005732.4(RAD50):c.687del (p.Ser229fs)	rs760146707	0.00042
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp)	rs139145143	0.00042
NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter)	rs188985665	0.00042
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu)	rs145039072	0.00042
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)	rs121907998	0.00041
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr)	rs113950465	0.00041
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)	rs140455771	0.00041
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg)	rs146970027	0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)	rs77563738	0.00041
NM_001358530.2(MOCS1):c.394C>T (p.Arg132Trp)	rs377167949	0.00041
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr)	rs138962786	0.00041
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)	rs150429680	0.00041
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser)	rs55886062	0.00040
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp)	rs200897773	0.00040
NM_001754.5(RUNX1):c.1269C>T (p.Arg423=)	rs544247912	0.00040
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)	rs146379816	0.00039
NM_000199.5(SGSH):c.734G>A (p.Arg245His)	rs104894635	0.00039
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)	rs121908759	0.00039
NM_001164508.2(NEB):c.5503C>T (p.Arg1835Trp)	rs199694315	0.00039
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)	rs13073139	0.00039
NM_002637.4(PHKA1):c.536C>T (p.Ala179Val)	rs199608903	0.00039
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)	rs121909398	0.00039
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys)	rs151254520	0.00038
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)	rs200856561	0.00038
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)	rs137852700	0.00038
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)	rs199738299	0.00038
NM_001848.3(COL6A1):c.2857G>A (p.Ala953Thr)	rs150378645	0.00038
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met)	rs779248881	0.00037
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	rs62642937	0.00036
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)	rs145252402	0.00036
NM_002693.3(POLG):c.131A>G (p.Gln44Arg)	rs757120802	0.00036
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	rs77375493	0.00036
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)	rs564605612	0.00036
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)	rs34637584	0.00036
NM_203447.4(DOCK8):c.54-1G>T	rs192864327	0.00036
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp)	rs143642304	0.00035
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)	rs80338848	0.00035
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)	rs200321110	0.00035
NM_001048174.2(MUTYH):c.850-2A>G	rs77542170	0.00035
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr)	rs142454476	0.00035
NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg)	rs201714437	0.00035
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)	rs369903995	0.00034
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)	rs1801175	0.00034
NM_000548.5(TSC2):c.5204T>C (p.Ile1735Thr)	rs786203769	0.00034
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser)	rs150932144	0.00034
NM_001142800.2(EYS):c.2137+1G>A	rs199740930	0.00034
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn)	rs72553877	0.00034
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=)	rs200092283	0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)	rs140522266	0.00034
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)	rs747253294	0.00034
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)	rs142967546	0.00033
NM_000817.3(GAD1):c.1184+17G>A	rs180969459	0.00033
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val)	rs121912714	0.00033
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)	rs201477273	0.00033
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)	rs75193786	0.00032
NM_001127178.3(PIGG):c.2053G>A (p.Gly685Ser)	rs200770933	0.00032
NM_001182.5(ALDH7A1):c.203C>A (p.Thr68Asn)	rs58528748	0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)	rs142763740	0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)	rs28937873	0.00032
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr)	rs138867099	0.00031
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu)	rs183487020	0.00031
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)	rs61761869	0.00031
NM_000553.6(WRN):c.130C>G (p.Leu44Val)	rs139775895	0.00031
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)	rs121908096	0.00031
NM_004655.4(AXIN2):c.1685C>T (p.Pro562Leu)	rs149764887	0.00031
NM_014363.6(SACS):c.10008A>G (p.Lys3336=)	rs148971954	0.00031
NM_014363.6(SACS):c.2580A>G (p.Gln860=)	rs41283958	0.00031
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)	rs201337954	0.00031
NM_000022.4(ADA):c.643G>A (p.Ala215Thr)	rs114025668	0.00030
NM_014384.3(ACAD8):c.466G>T (p.Ala156Ser)	rs201273972	0.00030
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)	rs121908188	0.00030
NM_024537.4(CARS2):c.563C>T (p.Thr188Met)	rs142034206	0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His)	rs72556554	0.00030
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)	rs80338671	0.00029
NM_000277.3(PAH):c.688G>A (p.Val230Ile)	rs62516152	0.00029
NM_000372.5(TYR):c.649C>T (p.Arg217Trp)	rs63159160	0.00029
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val)	rs113994012	0.00029
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln)	rs104894493	0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)	rs119103267	0.00029
NM_152443.3(RDH12):c.869T>G (p.Val290Gly)	rs61740289	0.00029
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn)	rs773242093	0.00029
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)	rs28940279	0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	rs5030868	0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu)	rs144600401	0.00028
NM_003060.4(SLC22A5):c.529A>G (p.Met177Val)	rs145068530	0.00028
NM_003738.5(PTCH2):c.2902G>A (p.Val968Ile)	rs200873074	0.00028
NM_022168.4(IFIH1):c.2016del (p.Asp673fs)	rs773033563	0.00028
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn)	rs150613320	0.00028
NM_025150.5(TARS2):c.1354C>T (p.Arg452Trp)	rs146503501	0.00028
NM_000441.2(SLC26A4):c.-3-2A>G	rs397516411	0.00027
NM_001164508.2(NEB):c.8024A>G (p.Asp2675Gly)	rs183354017	0.00027
NM_001953.5(TYMP):c.622G>A (p.Val208Met)	rs121913039	0.00027
NM_004304.5(ALK):c.4646G>T (p.Arg1549Ile)	rs199646095	0.00027
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met)	rs200451612	0.00027
NM_013314.4(BLNK):c.205-15C>T	rs199854336	0.00027
NM_000038.6(APC):c.8266A>G (p.Ile2756Val)	rs146115809	0.00026
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)	rs28934891	0.00026
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=)	rs45475501	0.00026
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)	rs137853027	0.00026
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys)	rs188094280	0.00026
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter)	rs146347092	0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)	rs137853011	0.00026
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu)	rs142348911	0.00026
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg)	rs370633684	0.00026
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)	rs143712760	0.00026
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)	rs201738967	0.00025
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu)	rs56369086	0.00025
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)	rs142931246	0.00025
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser)	rs201842633	0.00025
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)	rs144078282	0.00025
NM_001918.5(DBT):c.901C>T (p.Arg301Cys)	rs185492864	0.00025
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)	rs121908641	0.00025
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser)	rs185057307	0.00025
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln)	rs199766465	0.00025
NM_000237.3(LPL):c.998G>A (p.Arg333His)	rs144466625	0.00024
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)	rs1800408	0.00024
NM_000481.4(AMT):c.635T>C (p.Val212Ala)	rs201141125	0.00024
NM_001040716.2(PC):c.715A>G (p.Ile239Val)	rs148805312	0.00024
NM_001126108.2(SLC12A3):c.2856+1G>T	rs199974259	0.00024
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)	rs146136265	0.00024
NM_003850.3(SUCLA2):c.49C>G (p.Arg17Gly)	rs200124902	0.00024
NM_004260.4(RECQL4):c.2953G>A (p.Val985Met)	rs200629599	0.00024
NM_004304.5(ALK):c.3691C>T (p.Arg1231Trp)	rs771475772	0.00024
NM_032634.4(PIGO):c.2635G>A (p.Val879Ile)	rs139155910	0.00024
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)	rs137852849	0.00024
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met)	rs144812594	0.00023
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)	rs121918167	0.00023
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)	rs199475598	0.00023
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)	rs149866955	0.00023
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys)	rs150775371	0.00023
NM_014159.7(SETD2):c.19C>T (p.Gln7Ter)	rs541943893	0.00023
NM_000048.4(ASL):c.299T>C (p.Ile100Thr)	rs202142867	0.00022
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)	rs5030849	0.00022
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys)	rs147875659	0.00022
NM_001142800.2(EYS):c.3443+1G>T	rs373441420	0.00022
NM_001918.5(DBT):c.670G>T (p.Glu224Ter)	rs74103423	0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met)	rs79658334	0.00022
NM_000022.4(ADA):c.986C>T (p.Ala329Val)	rs121908715	0.00021
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)	rs104894636	0.00021
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)	rs368341987	0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)	rs80358257	0.00021
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)	rs141949212	0.00021
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met)	rs199473603	0.00021
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu)	rs143473912	0.00021
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)	rs28939086	0.00021
NM_000520.6(HEXA):c.1073+1G>A	rs76173977	0.00021
NM_001145860.2(POP1):c.1537C>T (p.Arg513Ter)	rs149102421	0.00021
NM_002016.2(FLG):c.94G>T (p.Glu32Ter)	rs114733570	0.00021
NM_002435.3(MPI):c.656G>A (p.Arg219Gln)	rs104894489	0.00021
NM_014679.5(CEP57):c.95C>T (p.Ser32Phe)	rs139110744	0.00021
NM_020529.3(NFKBIA):c.337-20G>A	rs371120371	0.00021
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu)	rs28941773	0.00020
NM_000081.4(LYST):c.10477T>C (p.Phe3493Leu)	rs200511787	0.00020
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)	rs63750361	0.00020
NM_000277.3(PAH):c.506G>A (p.Arg169His)	rs199475679	0.00020
NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr)	rs189174414	0.00020
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys)	rs772731615	0.00020
NM_024339.5(THOC6):c.298T>A (p.Trp100Arg)	rs138632121	0.00020
NM_024339.5(THOC6):c.700G>C (p.Val234Leu)	rs150940923	0.00020
NM_024339.5(THOC6):c.824G>A (p.Gly275Asp)	rs200426926	0.00020
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)	rs138011813	0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met)	rs143570936	0.00019
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg)	rs61757383	0.00019
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)	rs146762316	0.00019
NM_000152.5(GAA):c.693-4G>T	rs200088236	0.00019
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)	rs183105855	0.00019
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)	rs121434369	0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)	rs150518260	0.00019
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)	rs61750120	0.00019
NM_000372.5(TYR):c.823G>T (p.Val275Phe)	rs104894314	0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)	rs137853096	0.00019
NM_000628.5(IL10RB):c.215C>T (p.Thr72Met)	rs148466782	0.00019
NM_001182.5(ALDH7A1):c.1276A>G (p.Thr426Ala)	rs150305320	0.00019
NM_001346754.2(PIGW):c.533C>G (p.Ser178Cys)	rs368008171	0.00019
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys)	rs200945460	0.00019
NM_004371.4(COPA):c.2234G>A (p.Arg745His)	rs138441444	0.00019
NM_005535.3(IL12RB1):c.581-17G>A	rs370354493	0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)	rs139366548	0.00019
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg)	rs757549770	0.00018
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys)	rs55989760	0.00018
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)	rs138577661	0.00018
NM_000159.4(GCDH):c.1213A>G (p.Met405Val)	rs141437721	0.00018
NM_000159.4(GCDH):c.572T>C (p.Met191Thr)	rs149120354	0.00018
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys)	rs138065338	0.00018
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)	rs45553235	0.00018
NM_000441.2(SLC26A4):c.919-2A>G	rs111033313	0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	rs121434629	0.00018
NM_001005498.4(RHBDF2):c.1531G>A (p.Gly511Ser)	rs140196536	0.00018
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro)	rs121909379	0.00018
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met)	rs114269482	0.00018
NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr)	rs532711949	0.00018
NM_004304.5(ALK):c.4200A>C (p.Glu1400Asp)	rs143647372	0.00018
NM_005373.3(MPL):c.79+2T>A	rs146249964	0.00018
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)	rs374963432	0.00018
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)	rs201375579	0.00017
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe)	rs150882838	0.00017
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu)	rs28936700	0.00017
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)	rs141498002	0.00017
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)	rs145254330	0.00017
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter)	rs56381858	0.00017
NM_004004.6(GJB2):c.-23+1G>A	rs80338940	0.00017
NM_006767.4(LZTR1):c.264-13G>A	rs587777176	0.00017
NM_007294.3(BRCA1):c.-125C>T	rs148196794	0.00017
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)	rs371753672	0.00017
NM_016222.4(DDX41):c.490C>T (p.Arg164Trp)	rs142143752	0.00017
NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro)	rs143026267	0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)	rs104893851	0.00017
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)	rs201199629	0.00016
NM_000057.4(BLM):c.3751+10C>T	rs199685140	0.00016
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys)	rs151089298	0.00016
NM_000157.4(GBA1):c.882T>G (p.His294Gln)	rs367968666	0.00016
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)	rs104894423	0.00016
NM_000275.3(OCA2):c.1239+5G>C	rs757119713	0.00016
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)	rs200752969	0.00016
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)	rs121918019	0.00016
NM_000492.4(CFTR):c.489+3A>G	rs377729736	0.00016
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)	rs200165598	0.00016
NM_001164508.2(NEB):c.7309C>T (p.Arg2437Trp)	rs375164626	0.00016
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu)	rs79027628	0.00016
NM_001256545.2(MEGF10):c.2176G>A (p.Ala726Thr)	rs139884665	0.00016
NM_001361.5(DHODH):c.1036C>T (p.Arg346Trp)	rs201947120	0.00016
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn)	rs28929488	0.00016
NM_002691.4(POLD1):c.2185G>A (p.Glu729Lys)	rs200931999	0.00016
NM_005591.4(MRE11):c.1643T>C (p.Ile548Thr)	rs373522639	0.00016
NM_005912.3(MC4R):c.508A>G (p.Ile170Val)	rs121913560	0.00016
NM_006231.4(POLE):c.154C>T (p.Arg52Trp)	rs115452881	0.00016
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)	rs121908702	0.00016
NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser)	rs121908419	0.00016
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln)	rs121907932	0.00016
NM_145059.3(FCSK):c.2047C>T (p.Arg683Cys)	rs755169246	0.00016
NM_000049.4(ASPA):c.212G>A (p.Arg71His)	rs104894553	0.00015
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)	rs141656719	0.00015
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr)	rs747026964	0.00015
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe)	rs149775657	0.00015
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg)	rs140754514	0.00015
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)	rs121907954	0.00015
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn)	rs780768015	0.00015
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg)	rs148773718	0.00015
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter)	rs398124598	0.00015
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)	rs398123084	0.00014
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)	rs200788251	0.00014
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)	rs138945081	0.00014
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)	rs199821556	0.00014
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr)	rs55854959	0.00014
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)	rs104893924	0.00014
NM_000159.4(GCDH):c.1198G>A (p.Val400Met)	rs121434372	0.00014
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr)	rs377403073	0.00014
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter)	rs764353860	0.00014
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)	rs148032587	0.00014
NM_000497.4(CYP11B1):c.449C>T (p.Ser150Leu)	rs142484434	0.00014
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter)	rs766383135	0.00014
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val)	rs45448801	0.00014
NM_001127178.3(PIGG):c.2552A>C (p.Gln851Pro)	rs150802299	0.00014
NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu)	rs35194393	0.00014
NM_001282225.2(ADA2):c.1065C>A (p.Phe355Leu)	rs116020027	0.00014
NM_001298.3(CNGA3):c.101+1G>A	rs147118493	0.00014
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu)	rs376210604	0.00014
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)	rs142808899	0.00014
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)	rs181396238	0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile)	rs201816949	0.00014
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys)	rs2307440	0.00014
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)	rs121918358	0.00014
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys)	rs150283105	0.00014
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)	rs200094982	0.00014
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)	rs34647222	0.00014
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln)	rs119103219	0.00014
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu)	rs199795381	0.00014
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)	rs28941784	0.00014
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val)	rs149331537	0.00014
NM_152564.5(VPS13B):c.934A>G (p.Thr312Ala)	rs780702951	0.00014
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val)	rs146320179	0.00014
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)	rs199840367	0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)	rs121434274	0.00013
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)	rs137852623	0.00013
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln)	rs376107921	0.00013
NM_000071.3(CBS):c.146C>T (p.Pro49Leu)	rs148865119	0.00013
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His)	rs144751329	0.00013
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)	rs755922289	0.00013
NM_000169.3(GLA):c.1088G>A (p.Arg363His)	rs111422676	0.00013
NM_000268.4(NF2):c.1439C>T (p.Thr480Met)	rs145666157	0.00013
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)	rs137852870	0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)	rs121908102	0.00013
NM_001001548.3(CD36):c.430-2A>G	rs3211901	0.00013
NM_001369369.1(FOXN1):c.497C>T (p.Ala166Val)	rs367793349	0.00013
NM_001875.5(CPS1):c.121G>T (p.Val41Phe)	rs148708735	0.00013
NM_002225.5(IVD):c.358G>A (p.Gly120Arg)	rs142761835	0.00013
NM_003896.4(ST3GAL5):c.1063G>A (p.Glu355Lys)	rs534438354	0.00013
NM_004304.5(ALK):c.4795C>T (p.Pro1599Ser)	rs373037272	0.00013
NM_004655.4(AXIN2):c.1948C>T (p.Arg650Cys)	rs148419444	0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)	rs121913049	0.00013
NM_016327.3(UPB1):c.209G>C (p.Arg70Pro)	rs121908066	0.00013
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)	rs144972972	0.00013
NM_024537.4(CARS2):c.1448T>G (p.Leu483Trp)	rs766266851	0.00013
NM_030653.4(DDX11):c.1403dup (p.Ser469fs)	rs778363138	0.00013
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr)	rs199773340	0.00012
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)	rs761341952	0.00012
NM_000214.3(JAG1):c.1706C>T (p.Thr569Met)	rs368438076	0.00012
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	rs61752717	0.00012
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)	rs72554664	0.00012
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys)	rs80338856	0.00012
NM_003977.4(AIP):c.733G>A (p.Glu245Lys)	rs150645662	0.00012
NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln)	rs537908254	0.00012
NM_005921.2(MAP3K1):c.44C>G (p.Pro15Arg)	rs765282250	0.00012
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly)	rs142236568	0.00012
NM_014679.5(CEP57):c.764A>G (p.Asn255Ser)	rs768269976	0.00012
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)	rs904631654	0.00011
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp)	rs774030578	0.00011
NM_000053.4(ATP7B):c.1915C>T (p.His639Tyr)	rs200728096	0.00011
NM_000057.4(BLM):c.1315A>G (p.Met439Val)	rs201231857	0.00011
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)	rs139289675	0.00011
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)	rs17217723	0.00011
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)	rs372030650	0.00011
NM_000274.4(OAT):c.478G>A (p.Val160Met)	rs148433929	0.00011
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)	rs111033205	0.00011
NM_000487.6(ARSA):c.869G>A (p.Arg290His)	rs199476355	0.00011
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)	rs116788608	0.00011
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter)	rs12118058	0.00011
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)	rs587778778	0.00011
NM_001024630.4(RUNX2):c.523A>G (p.Met175Val)	rs201647225	0.00011
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys)	rs377025174	0.00011
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)	rs199422209	0.00011
NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met)	rs116040763	0.00011
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)	rs138818907	0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)	rs121964999	0.00011
NM_003482.4(KMT2D):c.5084-17A>G	rs368795536	0.00011
NM_003482.4(KMT2D):c.8245G>A (p.Val2749Met)	rs376888531	0.00011
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn)	rs79783591	0.00011
NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe)	rs370444838	0.00011
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)	rs751459058	0.00011
NM_012275.3(IL36RN):c.227C>T (p.Pro76Leu)	rs139497891	0.00011
NM_013275.6(ANKRD11):c.3274C>T (p.Pro1092Ser)	rs773172347	0.00011
NM_014625.4(NPHS2):c.779T>A (p.Val260Glu)	rs775006954	0.00011
NM_014625.4(NPHS2):c.868G>A (p.Val290Met)	rs200482683	0.00011
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys)	rs369762154	0.00011
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn)	rs200322968	0.00011
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met)	rs376289130	0.00011
NM_020549.5(CHAT):c.406G>A (p.Val136Met)	rs201479289	0.00011
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)	rs757052602	0.00011
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)	rs143031195	0.00011
NM_032444.4(SLX4):c.833G>A (p.Arg278Gln)	rs201192909	0.00011
NM_138387.4(G6PC3):c.687C>T (p.Ser229=)	rs377343204	0.00011
NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe)	rs751084512	0.00011
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)	rs137853197	0.00011
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)	rs77718928	0.00010
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)	rs118204429	0.00010
NM_000053.4(ATP7B):c.3243+5G>A	rs373193482	0.00010
NM_000071.3(CBS):c.362G>A (p.Arg121His)	rs770095972	0.00010
NM_000071.3(CBS):c.770C>T (p.Thr257Met)	rs758236584	0.00010
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp)	rs376790302	0.00010
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn)	rs200785120	0.00010
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly)	rs200764804	0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)	rs5030851	0.00010
NM_000286.3(PEX12):c.681-2A>C	rs187526749	0.00010
NM_000317.3(PTS):c.317C>T (p.Thr106Met)	rs200712908	0.00010
NM_000388.4(CASR):c.73C>T (p.Arg25Ter)	rs201633414	0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met)	rs137852327	0.00010
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)	rs201114717	0.00010
NM_001098.3(ACO2):c.2135C>T (p.Pro712Leu)	rs375761361	0.00010
NM_001164508.2(NEB):c.18859C>T (p.Arg6287Cys)	rs374606967	0.00010
NM_001164508.2(NEB):c.7343G>A (p.Arg2448His)	rs373589529	0.00010
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg)	rs149977726	0.00010
NM_002225.5(IVD):c.707C>T (p.Thr236Ile)	rs146861563	0.00010
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp)	rs267607052	0.00010
NM_004304.5(ALK):c.4028C>T (p.Thr1343Ile)	rs753763148	0.00010
NM_005327.7(HADH):c.676T>C (p.Tyr226His)	rs146036912	0.00010
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile)	rs121917840	0.00010
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)	rs546989392	0.00010
NM_021095.4(SLC5A6):c.1865_1866del (p.Gln622fs)	rs774193816	0.00010
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)	rs138043021	0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)	rs137852986	0.00010
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr)	rs28363307	0.00010
NM_152443.3(RDH12):c.701G>A (p.Arg234His)	rs750636662	0.00010
NM_152564.5(VPS13B):c.6657+1G>A	rs180177366	0.00010
NM_176824.3(BBS7):c.968A>G (p.His323Arg)	rs119466001	0.00010
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)	rs79761867	0.00010
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)	rs138834083	0.00009
NM_000018.4(ACADVL):c.520G>A (p.Val174Met)	rs369560930	0.00009
NM_000022.4(ADA):c.221G>T (p.Gly74Val)	rs199422328	0.00009
NM_000022.4(ADA):c.632G>A (p.Arg211His)	rs121908716	0.00009
NM_000051.4(ATM):c.133C>T (p.Arg45Trp)	rs3218684	0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)	rs145053092	0.00009
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)	rs374094065	0.00009
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser)	rs762866453	0.00009
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile)	rs80359069	0.00009
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)	rs151242354	0.00009
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met)	rs199652831	0.00009
NM_000152.5(GAA):c.1979G>A (p.Arg660His)	rs374143224	0.00009
NM_000153.4(GALC):c.1586C>T (p.Thr529Met)	rs200960659	0.00009
NM_000161.3(GCH1):c.610G>A (p.Val204Ile)	rs200891969	0.00009
NM_000222.3(KIT):c.1694G>T (p.Gly565Val)	rs200945282	0.00009
NM_000249.3(MLH1):c.-42C>T	rs41285097	0.00009
NM_000249.4(MLH1):c.1709A>G (p.Asn570Ser)	rs375853155	0.00009
NM_000251.3(MSH2):c.114C>G (p.Asp38Glu)	rs587779074	0.00009
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro)	rs63751107	0.00009
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile)	rs765779905	0.00009
NM_000277.3(PAH):c.434A>T (p.Asp145Val)	rs140175796	0.00009
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)	rs774130993	0.00009
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)	rs61750145	0.00009
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)	rs111033309	0.00009
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)	rs375315619	0.00009
NM_000540.3(RYR1):c.15015G>A (p.Thr5005=)	rs2229149	0.00009
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro)	rs398123508	0.00009
NM_000784.4(CYP27A1):c.1184+1G>A	rs587778777	0.00009
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)	rs140342925	0.00009
NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe)	rs201028196	0.00009
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)	rs145285434	0.00009
NM_001258392.3(CLPB):c.1803G>A (p.Val601=)	rs766600801	0.00009
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)	rs373740199	0.00009
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)	rs767533946	0.00009
NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp)	rs777425801	0.00009
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)	rs201604102	0.00009
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys)	rs60376624	0.00009
NM_004371.4(COPA):c.778C>T (p.Arg260Cys)	rs773636602	0.00009
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met)	rs369930675	0.00009
NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr)	rs759047530	0.00009
NM_005609.4(PYGM):c.1403+5G>A	rs373040789	0.00009
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)	rs373190458	0.00009
NM_005609.4(PYGM):c.425-26A>G	rs764313717	0.00009
NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser)	rs930347206	0.00009
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His)	rs536758576	0.00009
NM_007194.4(CHEK2):c.319+2T>A	rs587782401	0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)	rs28909982	0.00009
NM_007194.4(CHEK2):c.444+1G>A	rs121908698	0.00009
NM_015386.3(COG4):c.2251G>A (p.Asp751Asn)	rs200083914	0.00009
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)	rs188376296	0.00009
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met)	rs104894705	0.00009
NM_024854.5(PYROXD1):c.285+1G>A	rs369083786	0.00009
NM_025243.4(SLC19A3):c.325G>A (p.Val109Ile)	rs780569649	0.00009
NM_033419.5(PGAP3):c.558-10G>A	rs200598755	0.00009
NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys)	rs373514077	0.00009
NM_054012.4(ASS1):c.19G>A (p.Val7Met)	rs149938546	0.00009
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys)	rs183276875	0.00009
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser)	rs139928148	0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)	rs201105958	0.00009
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)	rs144332569	0.00009
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe)	rs142095945	0.00009
NM_206933.4(USH2A):c.2167+5G>A	rs771583281	0.00009
NM_000048.4(ASL):c.337C>T (p.Arg113Trp)	rs767543051	0.00008
NM_000048.4(ASL):c.571C>T (p.Arg191Trp)	rs143508372	0.00008
NM_000053.4(ATP7B):c.2731-2A>G	rs367956522	0.00008
NM_000059.4(BRCA2):c.517-4C>G	rs81002804	0.00008
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His)	rs56010818	0.00008
NM_000152.5(GAA):c.1194+3G>C	rs368539333	0.00008
NM_000152.5(GAA):c.1552-3C>G	rs375470378	0.00008
NM_000152.5(GAA):c.533G>A (p.Arg178His)	rs762267535	0.00008
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)	rs886042086	0.00008
NM_000251.3(MSH2):c.820A>G (p.Ile274Val)	rs371944271	0.00008
NM_000274.4(OAT):c.539G>C (p.Arg180Thr)	rs121965040	0.00008
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro)	rs62508646	0.00008
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)	rs5030856	0.00008
NM_000355.4(TCN2):c.424A>G (p.Ile142Val)	rs200771616	0.00008
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)	rs143010236	0.00008
NM_000380.4(XPA):c.731A>G (p.His244Arg)	rs144725456	0.00008
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr)	rs762780994	0.00008
NM_000402.4(G6PD):c.185A>G (p.His62Arg)	rs137852340	0.00008
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)	rs111033307	0.00008
NM_000465.4(BARD1):c.1339C>G (p.Leu447Val)	rs376727038	0.00008
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp)	rs142548565	0.00008
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)	rs139842473	0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)	rs201540674	0.00008
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter)	rs374420253	0.00008
NM_002528.7(NTHL1):c.526-1G>A	rs779757251	0.00008
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)	rs370644567	0.00008
NM_004304.5(ALK):c.3362G>A (p.Gly1121Asp)	rs55760835	0.00008
NM_004304.5(ALK):c.875G>A (p.Arg292His)	rs149145987	0.00008
NM_013275.6(ANKRD11):c.3953C>G (p.Thr1318Ser)	rs570483616	0.00008
NM_019616.4(F7):c.1085C>T (p.Thr362Met)	rs531225271	0.00008
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser)	rs119103213	0.00008
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys)	rs375699023	0.00008
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)	rs878855107	0.00008
NM_054012.4(ASS1):c.773C>T (p.Ala258Val)	rs753078725	0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)	rs369925690	0.00008
NM_152743.4(BRAT1):c.1196G>A (p.Arg399Gln)	rs371360176	0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)	rs368049814	0.00008
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln)	rs140561784	0.00008
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe)	rs762114560	0.00007
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg)	rs121434278	0.00007
NM_000022.4(ADA):c.320T>C (p.Leu107Pro)	rs121908739	0.00007
NM_000046.5(ARSB):c.667A>G (p.Ile223Val)	rs367650121	0.00007
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys)	rs28940286	0.00007
NM_000051.4(ATM):c.496+4T>C	rs587781375	0.00007
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)	rs104886457	0.00007
NM_000152.5(GAA):c.1048G>A (p.Val350Met)	rs200412003	0.00007
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser)	rs375690568	0.00007
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys)	rs150938052	0.00007
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly)	rs63750809	0.00007
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile)	rs180819807	0.00007
NM_000277.3(PAH):c.204A>T (p.Arg68Ser)	rs76394784	0.00007
NM_000282.4(PCCA):c.1284+1G>A	rs752761437	0.00007
NM_000383.4(AIRE):c.652+15G>A	rs760027964	0.00007
NM_000478.6(ALPL):c.575T>C (p.Met192Thr)	rs765011829	0.00007
NM_000518.5(HBB):c.92+6T>C	rs35724775	0.00007
NM_000528.4(MAN2B1):c.2046+2T>A	rs748712495	0.00007
NM_000733.4(CD3E):c.103+10T>C	rs143015515	0.00007
NM_001014.5(RPS10):c.71A>G (p.Lys24Arg)	rs201147592	0.00007
NM_001017420.3(ESCO2):c.1132-7A>G	rs80359862	0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)	rs749909863	0.00007
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His)	rs368798160	0.00007
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter)	rs752683070	0.00007
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser)	rs201101621	0.00007
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg)	rs121913037	0.00007
NM_002225.5(IVD):c.550+1G>A	rs377147994	0.00007
NM_002878.4(RAD51D):c.394G>A (p.Val132Ile)	rs201141245	0.00007
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln)	rs200699819	0.00007
NM_004304.5(ALK):c.3182G>A (p.Arg1061Gln)	rs72852032	0.00007
NM_004320.6(ATP2A1):c.100G>T (p.Glu34Ter)	rs141559558	0.00007
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe)	rs386833895	0.00007
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter)	rs137852761	0.00007
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs)	rs587781442	0.00007
NM_005609.4(PYGM):c.1768+1G>A	rs771427957	0.00007
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg)	rs137853150	0.00007
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)	rs104894178	0.00007
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)	rs189150283	0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His)	rs121908706	0.00007
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter)	rs774654020	0.00007
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs)	rs386833988	0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)	rs80338795	0.00007
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer)	rs762890562	0.00007
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter)	rs201850378	0.00007
NM_024675.4(PALB2):c.2200A>T (p.Thr734Ser)	rs45543843	0.00007
NM_031844.3(HNRNPU):c.1274G>C (p.Gly425Ala)	rs199596170	0.00007
NM_032383.5(HPS3):c.2888-1612G>A	rs281865096	0.00007
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu)	rs140881518	0.00007
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)	rs121908646	0.00007
NM_054012.4(ASS1):c.805G>A (p.Val269Met)	rs370595480	0.00007
NM_130839.5(UBE3A):c.2096A>C (p.Lys699Thr)	rs202161423	0.00007
NM_145059.3(FCSK):c.667T>C (p.Ser223Pro)	rs769009456	0.00007
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly)	rs116802390	0.00007
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg)	rs62636264	0.00007
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met)	rs151057466	0.00007
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His)	rs201386640	0.00007
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile)	rs775537775	0.00006
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln)	rs147366714	0.00006
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala)	rs762991875	0.00006
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn)	rs180177180	0.00006
NM_000030.3(AGXT):c.698G>A (p.Arg233His)	rs121908527	0.00006
NM_000038.6(APC):c.2527A>G (p.Ser843Gly)	rs536223189	0.00006
NM_000038.6(APC):c.5774C>A (p.Pro1925His)	rs762682111	0.00006
NM_000038.6(APC):c.8107A>G (p.Lys2703Glu)	rs730881270	0.00006
NM_000049.4(ASPA):c.746A>T (p.Asp249Val)	rs104894552	0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)	rs147915571	0.00006
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)	rs28904921	0.00006
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)	rs587783299	0.00006
NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp)	rs539585071	0.00006
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met)	rs776280797	0.00006
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)	rs121907992	0.00006
NM_000057.4(BLM):c.3558+1G>T	rs148969222	0.00006
NM_000071.3(CBS):c.572C>T (p.Thr191Met)	rs121964973	0.00006
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)	rs121918528	0.00006
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)	rs121964992	0.00006
NM_000110.4(DPYD):c.220C>T (p.Arg74Ter)	rs189768576	0.00006
NM_000110.4(DPYD):c.2579del (p.Gln860fs)	rs746991079	0.00006
NM_000124.4(ERCC6):c.2599-26A>G	rs4253196	0.00006
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly)	rs149277003	0.00006
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)	rs149797103	0.00006
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu)	rs145886270	0.00006
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser)	rs80338900	0.00006
NM_000137.4(FAH):c.1027G>T (p.Gly343Trp)	rs970505762	0.00006
NM_000137.4(FAH):c.782C>T (p.Pro261Leu)	rs80338898	0.00006
NM_000152.5(GAA):c.1124G>A (p.Arg375His)	rs142752477	0.00006
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)	rs147327209	0.00006
NM_000152.5(GAA):c.266G>A (p.Arg89His)	rs200586324	0.00006
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)	rs577915581	0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr)	rs121907936	0.00006
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter)	rs137852888	0.00006
NM_000158.4(GBE1):c.785G>A (p.Arg262His)	rs369574719	0.00006
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg)	rs372983141	0.00006
NM_000170.3(GLDC):c.2216G>A (p.Arg739His)	rs121964980	0.00006
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile)	rs376799914	0.00006
NM_000183.3(HADHB):c.397A>G (p.Thr133Ala)	rs371159065	0.00006
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer)	rs779339230	0.00006
NM_000271.5(NPC1):c.2862G>A (p.Ser954=)	rs373517774	0.00006
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr)	rs142988897	0.00006
NM_000275.3(OCA2):c.632C>T (p.Pro211Leu)	rs190612616	0.00006
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp)	rs141371306	0.00006
NM_000288.4(PEX7):c.340-10A>G	rs267608255	0.00006
NM_000289.6(PFKM):c.237+1G>A	rs202143236	0.00006
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr)	rs368582085	0.00006
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu)	rs150719105	0.00006
NM_000310.4(PPT1):c.541G>A (p.Val181Met)	rs148412181	0.00006
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)	rs61752871	0.00006
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys)	rs397514524	0.00006
NM_000426.4(LAMA2):c.1300C>T (p.Arg434Ter)	rs1374568851	0.00006
NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer)	rs794727594	0.00006
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)	rs111033305	0.00006
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser)	rs111033308	0.00006
NM_000465.4(BARD1):c.1104C>G (p.Cys368Trp)	rs371147849	0.00006
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)	rs121918014	0.00006
NM_000478.6(ALPL):c.407G>A (p.Arg136His)	rs121918011	0.00006
NM_000481.4(AMT):c.230C>T (p.Ser77Leu)	rs386833680	0.00006
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)	rs74315475	0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)	rs151048781	0.00006
NM_000497.4(CYP11B1):c.799+5G>C	rs193922542	0.00006
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)	rs118204437	0.00006
NM_000520.6(HEXA):c.806-7G>A	rs770932296	0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)	rs80338681	0.00006
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg)	rs754733253	0.00006
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)	rs121964959	0.00006
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His)	rs559088058	0.00006
NM_000642.3(AGL):c.4260-12A>G	rs369973784	0.00006
NM_001001557.4(GDF6):c.169G>C (p.Asp57His)	rs397514725	0.00006
NM_001005498.4(RHBDF2):c.2365G>A (p.Ala789Thr)	rs770206566	0.00006
NM_001006658.3(CR2):c.818-4C>T	rs370106455	0.00006
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln)	rs113994145	0.00006
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter)	rs766420907	0.00006
NM_001083116.3(PRF1):c.666C>A (p.His222Gln)	rs751247865	0.00006
NM_001098484.3(SLC4A4):c.1297T>C (p.Cys433Arg)	rs771339934	0.00006
NM_001134407.3(GRIN2A):c.4170G>A (p.Ser1390=)	rs1057522803	0.00006
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter)	rs760798455	0.00006
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala)	rs772888249	0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)	rs137853190	0.00006
NM_001145715.3(KPNA7):c.106C>T (p.Arg36Ter)	rs760378316	0.00006
NM_001164508.2(NEB):c.20228G>A (p.Arg6743His)	rs755370356	0.00006
NM_001164508.2(NEB):c.7441A>G (p.Arg2481Gly)	rs149430473	0.00006
NM_001283009.2(RTEL1):c.3110-2A>T	rs377461417	0.00006
NM_001346754.2(PIGW):c.646C>T (p.Arg216Ter)	rs147622852	0.00006
NM_001358530.2(MOCS1):c.217C>T (p.Arg73Trp)	rs104893970	0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala)	rs200334114	0.00006
NM_001374828.1(ARID1B):c.1379G>T (p.Gly460Val)	rs1274183370	0.00006
NM_001376.5(DYNC1H1):c.7138G>A (p.Ala2380Thr)	rs550161377	0.00006
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu)	rs80356779	0.00006
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)	rs121913502	0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)	rs200287925	0.00006
NM_002693.3(POLG):c.3287G>A (p.Arg1096His)	rs368435864	0.00006
NM_002693.3(POLG):c.868C>T (p.Arg290Cys)	rs753416225	0.00006
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu)	rs144547521	0.00006
NM_003072.5(SMARCA4):c.3383-5G>A	rs762528243	0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)	rs121908680	0.00006
NM_003738.5(PTCH2):c.311T>C (p.Leu104Pro)	rs80168454	0.00006
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter)	rs386833808	0.00006
NM_004064.5(CDKN1B):c.225G>C (p.Glu75Asp)	rs139727620	0.00006
NM_004260.4(RECQL4):c.862G>A (p.Gly288Arg)	rs199706417	0.00006
NM_004291.4(CARTPT):c.183G>C (p.Leu61Phe)	rs121909065	0.00006
NM_004304.5(ALK):c.1184G>A (p.Arg395His)	rs769910087	0.00006
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)	rs386833909	0.00006
NM_005055.5(RAPSN):c.133G>A (p.Val45Met)	rs121909254	0.00006
NM_005419.4(STAT2):c.903C>T (p.Asn301=)	rs145152331	0.00006
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg)	rs144081869	0.00006
NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu)	rs137853151	0.00006
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp)	rs550922200	0.00006
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)	rs587777180	0.00006
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys)	rs587777178	0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)	rs587780180	0.00006
NM_012203.2(GRHPR):c.734+1G>A	rs148049120	0.00006
NM_012434.5(SLC17A5):c.533del (p.Thr178fs)	rs727504156	0.00006
NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter)	rs72553882	0.00006
NM_012452.3(TNFRSF13B):c.593G>A (p.Arg198His)	rs150974807	0.00006
NM_013339.4(ALG6):c.338G>A (p.Arg113His)	rs768372697	0.00006
NM_014252.4(SLC25A15):c.823C>T (p.Arg275Ter)	rs202247807	0.00006
NM_014915.3(ANKRD26):c.4636G>C (p.Asp1546His)	rs753924410	0.00006
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser)	rs121908345	0.00006
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)	rs201183360	0.00006
NM_016955.4(SEPSECS):c.388+3A>G	rs757504141	0.00006
NM_019616.4(F7):c.364+1G>A	rs1056071555	0.00006
NM_020158.4(EXOSC5):c.341C>T (p.Thr114Ile)	rs542429051	0.00006
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg)	rs119103212	0.00006
NM_020320.5(RARS2):c.1564G>A (p.Val522Ile)	rs201386427	0.00006
NM_020921.4(NIN):c.5126A>G (p.Asn1709Ser)	rs387907308	0.00006
NM_020944.3(GBA2):c.266G>C (p.Cys89Ser)	rs143885818	0.00006
NM_021629.4(GNB4):c.204-4C>G	rs377746889	0.00006
NM_021729.6(VPS11):c.2536T>G (p.Cys846Gly)	rs34757931	0.00006
NM_024675.4(PALB2):c.109C>A (p.Arg37Ser)	rs200048921	0.00006
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys)	rs201408725	0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	rs137852832	0.00006
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu)	rs759031349	0.00006
NM_058216.3(RAD51C):c.14C>T (p.Thr5Met)	rs201523760	0.00006
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu)	rs573992101	0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)	rs200391019	0.00006
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)	rs180675584	0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter)	rs146960401	0.00006
NM_153676.4(USH1C):c.308G>A (p.Arg103His)	rs397514500	0.00006
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)	rs386834202	0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)	rs74315398	0.00006
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His)	rs371518124	0.00006
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe)	rs764256655	0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)	rs369522997	0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)	rs111033264	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.12295-3T>A	rs111033518	0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	rs201527662	0.00006
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)	rs113994168	0.00005
NM_000022.4(ADA):c.872C>T (p.Ser291Leu)	rs121908721	0.00005
NM_000023.4(SGCA):c.614C>A (p.Pro205His)	rs757481230	0.00005
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys)	rs121908526	0.00005
NM_000053.4(ATP7B):c.1285+5G>T	rs370579582	0.00005
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile)	rs541208827	0.00005
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=)	rs199879914	0.00005
NM_000059.4(BRCA2):c.9592T>C (p.Cys3198Arg)	rs80359229	0.00005
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)	rs200379491	0.00005
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln)	rs199967286	0.00005
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn)	rs201589909	0.00005
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)	rs372254398	0.00005
NM_000143.4(FH):c.1127A>C (p.Gln376Pro)	rs200796606	0.00005
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val)	rs104894565	0.00005
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr)	rs144155165	0.00005
NM_000158.4(GBE1):c.1544G>A (p.Arg515His)	rs201958741	0.00005
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln)	rs775606471	0.00005
NM_000182.5(HADHA):c.180+3A>G	rs781222705	0.00005
NM_000183.3(HADHB):c.182G>A (p.Arg61His)	rs121913132	0.00005
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn)	rs753472891	0.00005
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter)	rs201551805	0.00005
NM_000249.4(MLH1):c.1154G>A (p.Arg385His)	rs63750430	0.00005
NM_000249.4(MLH1):c.80G>A (p.Arg27Gln)	rs138705565	0.00005
NM_000251.3(MSH2):c.1774A>G (p.Met592Val)	rs371614039	0.00005
NM_000251.3(MSH2):c.885C>G (p.Asp295Glu)	rs201334592	0.00005
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu)	rs121965044	0.00005
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)	rs121918169	0.00005
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)	rs121909152	0.00005
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly)	rs140014925	0.00005
NM_000295.5(SERPINA1):c.646+2T>C	rs112661131	0.00005
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu)	rs749720760	0.00005
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu)	rs386833646	0.00005
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro)	rs62645908	0.00005
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr)	rs119455954	0.00005
NM_000465.4(BARD1):c.841C>T (p.Pro281Ser)	rs200059956	0.00005
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)	rs61750418	0.00005
NM_000486.6(AQP2):c.782C>T (p.Ser261Leu)	rs376000406	0.00005
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)	rs1800089	0.00005
NM_000532.5(PCCB):c.1127G>A (p.Arg376His)	rs142982097	0.00005
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)	rs374722096	0.00005
NM_000540.3(RYR1):c.2996G>A (p.Arg999His)	rs180714609	0.00005
NM_000925.4(PDHB):c.426A>G (p.Ile142Met)	rs151247980	0.00005
NM_001005498.4(RHBDF2):c.359T>C (p.Met120Thr)	rs367658130	0.00005
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser)	rs370789267	0.00005
NM_001044385.3(TMEM237):c.42+1G>A	rs1378726802	0.00005
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter)	rs201454788	0.00005
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter)	rs121918164	0.00005
NM_001142800.2(EYS):c.6571+5G>A	rs991580368	0.00005
NM_001243279.3(ACSF3):c.246del (p.Cys83fs)	rs772073893	0.00005
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter)	rs200440128	0.00005
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu)	rs80338859	0.00005
NM_001365088.1(SLC12A6):c.776del (p.Ala259fs)	rs776790336	0.00005
NM_001370658.1(BTD):c.383G>A (p.Arg128His)	rs367902696	0.00005
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)	rs369102875	0.00005
NM_001876.4(CPT1A):c.1163+1G>A	rs148059333	0.00005
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys)	rs377216516	0.00005
NM_003227.4(TFR2):c.2014C>T (p.Gln672Ter)	rs1051249273	0.00005
NM_004304.5(ALK):c.3338G>A (p.Arg1113Gln)	rs199987354	0.00005
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys)	rs371493232	0.00005
NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys)	rs386833915	0.00005
NM_004722.4(AP4M1):c.1140G>A (p.Met380Ile)	rs574878636	0.00005
NM_005026.5(PIK3CD):c.1955+15C>T	rs186998116	0.00005
NM_005120.3(MED12):c.4864-6C>T	rs1018026145	0.00005
NM_005609.4(PYGM):c.2178-1G>A	rs143670942	0.00005
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys)	rs121917839	0.00005
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro)	rs201727685	0.00005
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter)	rs386833993	0.00005
NM_014795.4(ZEB2):c.219C>T (p.His73=)	rs778851716	0.00005
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly)	rs765088174	0.00005
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala)	rs277995	0.00005
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val)	rs146434474	0.00005
NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu)	rs730881894	0.00005
NM_024675.4(PALB2):c.3412G>A (p.Ala1138Thr)	rs577651839	0.00005
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)	rs768933093	0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs)	rs312262720	0.00005
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys)	rs767864243	0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	rs104886142	0.00005
NM_052845.4(MMAB):c.562G>A (p.Val188Met)	rs768176676	0.00005
NM_054012.4(ASS1):c.787G>A (p.Val263Met)	rs192838388	0.00005
NM_054012.4(ASS1):c.911G>A (p.Arg304Gln)	rs771640767	0.00005
NM_130839.5(UBE3A):c.1179T>C (p.Asp393=)	rs143000400	0.00005
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)	rs200511261	0.00005
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro)	rs767068756	0.00005
NM_000016.6(ACADM):c.1118T>C (p.Val373Ala)	rs373057729	0.00004
NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn)	rs759158371	0.00004
NM_000016.6(ACADM):c.388-3T>G	rs764942250	0.00004
NM_000016.6(ACADM):c.50G>A (p.Arg17His)	rs17848070	0.00004
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)	rs745832866	0.00004
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp)	rs771025937	0.00004
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser)	rs200117742	0.00004
NM_000019.4(ACAT1):c.444_445del (p.Met148fs)	rs727503795	0.00004
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)	rs199524907	0.00004
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln)	rs370720208	0.00004
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg)	rs180177239	0.00004
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro)	rs121908520	0.00004
NM_000035.4(ALDOB):c.379+1G>T	rs138121153	0.00004
NM_000038.6(APC):c.449A>G (p.Lys150Arg)	rs371085910	0.00004
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe)	rs372418435	0.00004
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro)	rs755359126	0.00004
NM_000046.5(ARSB):c.1178A>C (p.His393Pro)	rs118203944	0.00004
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln)	rs776814144	0.00004
NM_000046.5(ARSB):c.971G>T (p.Gly324Val)	rs398123125	0.00004
NM_000048.4(ASL):c.578G>A (p.Arg193Gln)	rs373697663	0.00004
NM_000049.4(ASPA):c.79G>A (p.Gly27Arg)	rs766328537	0.00004
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val)	rs376824528	0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)	rs587782652	0.00004
NM_000053.4(ATP7B):c.2183A>G (p.Asn728Ser)	rs760713333	0.00004
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)	rs755554442	0.00004
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser)	rs587783318	0.00004
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro)	rs756237962	0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)	rs587779884	0.00004
NM_000070.3(CAPN3):c.1557C>T (p.His519=)	rs368385372	0.00004
NM_000071.3(CBS):c.1499C>T (p.Ser500Leu)	rs755106884	0.00004
NM_000071.3(CBS):c.341C>T (p.Ala114Val)	rs121964964	0.00004
NM_000093.5(COL5A1):c.5311G>A (p.Asp1771Asn)	rs1005244744	0.00004
NM_000098.3(CPT2):c.1646G>A (p.Gly549Asp)	rs186044004	0.00004
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp)	rs373638740	0.00004
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu)	rs757275923	0.00004
NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu)	rs72549304	0.00004
NM_000110.4(DPYD):c.1651G>A (p.Ala551Thr)	rs777425216	0.00004
NM_000110.4(DPYD):c.1681C>T (p.Arg561Ter)	rs1057516968	0.00004
NM_000110.4(DPYD):c.187A>G (p.Lys63Glu)	rs367619008	0.00004
NM_000110.4(DPYD):c.2275C>T (p.Arg759Ter)	rs759372918	0.00004
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu)	rs568132506	0.00004
NM_000110.4(DPYD):c.703C>T (p.Arg235Trp)	rs1801266	0.00004
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)	rs769976586	0.00004
NM_000135.4(FANCA):c.2009G>A (p.Arg670His)	rs537923341	0.00004
NM_000135.4(FANCA):c.3349-1G>A	rs769862233	0.00004
NM_000135.4(FANCA):c.4015del (p.Leu1339fs)	rs762902309	0.00004
NM_000136.3(FANCC):c.521+1G>A	rs145394391	0.00004
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)	rs770610356	0.00004
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)	rs148842275	0.00004
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)	rs140826989	0.00004
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer)	rs781088002	0.00004
NM_000152.5(GAA):c.784G>A (p.Glu262Lys)	rs201896815	0.00004
NM_000153.4(GALC):c.1592G>A (p.Arg531His)	rs200378205	0.00004
NM_000153.4(GALC):c.2041G>A (p.Val681Met)	rs200607029	0.00004
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met)	rs371517491	0.00004
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser)	rs754967473	0.00004
NM_000155.4(GALT):c.1006A>T (p.Met336Leu)	rs111033810	0.00004
NM_000155.4(GALT):c.512T>C (p.Phe171Ser)	rs111033715	0.00004
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys)	rs772802187	0.00004
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala)	rs770427750	0.00004
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys)	rs781477694	0.00004
NM_000159.4(GCDH):c.848del (p.Leu283fs)	rs761491320	0.00004
NM_000182.5(HADHA):c.919-2A>G	rs200017313	0.00004
NM_000183.3(HADHB):c.1289T>C (p.Phe430Ser)	rs375329638	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.1129C>T (p.Arg377Cys)	rs772311757	0.00004
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp)	rs777267343	0.00004
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser)	rs143947056	0.00004
NM_000231.3(SGCG):c.195+1G>C	rs200502077	0.00004
NM_000249.4(MLH1):c.1148T>C (p.Met383Thr)	rs141344760	0.00004
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln)	rs63751630	0.00004
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys)	rs367654552	0.00004
NM_000251.3(MSH2):c.1021C>G (p.Leu341Val)	rs748115066	0.00004
NM_000251.3(MSH2):c.1530G>C (p.Gln510His)	rs587782355	0.00004
NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys)	rs63750029	0.00004
NM_000251.3(MSH2):c.1601G>A (p.Arg534His)	rs587778523	0.00004
NM_000251.3(MSH2):c.1813G>T (p.Val605Phe)	rs730881777	0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)	rs200411226	0.00004
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met)	rs371488302	0.00004
NM_000277.3(PAH):c.1238G>A (p.Arg413His)	rs79931499	0.00004
NM_000277.3(PAH):c.261C>A (p.Ser87Arg)	rs62516151	0.00004
NM_000277.3(PAH):c.842+1G>A	rs5030852	0.00004
NM_000277.3(PAH):c.964G>A (p.Ala322Thr)	rs62514957	0.00004
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly)	rs1169861687	0.00004
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)	rs61753245	0.00004
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter)	rs374547385	0.00004
NM_000293.3(PHKB):c.30A>C (p.Glu10Asp)	rs760502380	0.00004
NM_000303.3(PMM2):c.24del (p.Cys9fs)	rs768021123	0.00004
NM_000303.3(PMM2):c.640-15479C>T	rs1258107584	0.00004
NM_000310.4(PPT1):c.29T>A (p.Leu10Ter)	rs137852699	0.00004
NM_000317.3(PTS):c.164-672C>T	rs1030849527	0.00004
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)	rs61751282	0.00004
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)	rs61751277	0.00004
NM_000359.3(TGM1):c.1631A>G (p.Tyr544Cys)	rs1044429462	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_000359.3(TGM1):c.876+2T>C	rs151054393	0.00004
NM_000360.4(TH):c.1382C>T (p.Pro461Leu)	rs767635052	0.00004
NM_000360.4(TH):c.91-818G>A	rs753403788	0.00004
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)	rs121917851	0.00004
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp)	rs749979474	0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)	rs137852339	0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)	rs137852331	0.00004
NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu)	rs398123388	0.00004
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met)	rs111033220	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_000478.6(ALPL):c.1363G>A (p.Gly455Ser)	rs149889416	0.00004
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr)	rs199669988	0.00004
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu)	rs121918010	0.00004
NM_000481.4(AMT):c.280C>T (p.Arg94Trp)	rs1126422	0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His)	rs121964985	0.00004
NM_000484.4(APP):c.917G>A (p.Arg306His)	rs202218688	0.00004
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met)	rs104894068	0.00004
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln)	rs778742647	0.00004
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr)	rs1353542774	0.00004
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)	rs182812968	0.00004
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)	rs727504166	0.00004
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn)	rs749780769	0.00004
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu)	rs1057517195	0.00004
NM_000709.4(BCKDHA):c.349C>T (p.Arg117Cys)	rs188135164	0.00004
NM_000709.4(BCKDHA):c.996-26A>G	rs757986569	0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)	rs587778818	0.00004
NM_000784.4(CYP27A1):c.845-1G>A	rs397515353	0.00004
NM_000785.4(CYP27B1):c.1226C>T (p.Thr409Ile)	rs118204008	0.00004
NM_000969.5(RPL5):c.403A>G (p.Ile135Val)	rs200075817	0.00004
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser)	rs543320028	0.00004
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter)	rs755350165	0.00004
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)	rs143836226	0.00004
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)	rs765123255	0.00004
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=)	rs372673338	0.00004
NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter)	rs776838028	0.00004
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)	rs28931569	0.00004
NM_001142800.2(EYS):c.7492G>C (p.Ala2498Pro)	rs1311193836	0.00004
NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu)	rs1161453292	0.00004
NM_001164508.2(NEB):c.4315G>A (p.Glu1439Lys)	rs771779312	0.00004
NM_001164508.2(NEB):c.5429C>T (p.Ala1810Val)	rs752744680	0.00004
NM_001164508.2(NEB):c.6916-20T>C	rs780933765	0.00004
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs)	rs767414973	0.00004
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)	rs147538370	0.00004
NM_001243279.3(ACSF3):c.1553C>A (p.Ala518Asp)	rs761852278	0.00004
NM_001243279.3(ACSF3):c.348G>A (p.Trp116Ter)	rs757905943	0.00004
NM_001243279.3(ACSF3):c.451G>T (p.Glu151Ter)	rs752338222	0.00004
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter)	rs746877433	0.00004
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs)	rs766163167	0.00004
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)	rs146448211	0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)	rs104886033	0.00004
NM_001360.3(DHCR7):c.725G>A (p.Arg242His)	rs80338857	0.00004
NM_001370259.2(MEN1):c.1098A>T (p.Glu366Asp)	rs149383809	0.00004
NM_001370259.2(MEN1):c.774G>C (p.Gln258His)	rs374659656	0.00004
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)	rs397514345	0.00004
NM_001370658.1(BTD):c.873del (p.Ser291fs)	rs397514395	0.00004
NM_001378120.1(MBD5):c.4088T>C (p.Ile1363Thr)	rs748142226	0.00004
NM_001768.7(CD8A):c.188C>G (p.Ala63Gly)	rs537395900	0.00004
NM_001918.5(DBT):c.1018-550A>G	rs796052135	0.00004
NM_001918.5(DBT):c.75_76del (p.Cys26fs)	rs768832921	0.00004
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys)	rs371427844	0.00004
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)	rs143348838	0.00004
NM_002225.5(IVD):c.287-1G>A	rs1398838997	0.00004
NM_002382.5(MAX):c.56A>T (p.Gln19Leu)	rs200547781	0.00004
NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter)	rs753029097	0.00004
NM_002529.4(NTRK1):c.818G>A (p.Arg273Gln)	rs200305545	0.00004
NM_002691.4(POLD1):c.1118A>G (p.Lys373Arg)	rs770407151	0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)	rs121918044	0.00004
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His)	rs185551386	0.00004
NM_003060.4(SLC22A5):c.769C>T (p.Arg257Trp)	rs386134203	0.00004
NM_003072.5(SMARCA4):c.656C>T (p.Thr219Met)	rs371832808	0.00004
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn)	rs769602042	0.00004
NM_003482.4(KMT2D):c.13463A>G (p.Asn4488Ser)	rs779247029	0.00004
NM_003482.4(KMT2D):c.7463C>T (p.Ser2488Leu)	rs779629382	0.00004
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter)	rs376078668	0.00004
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)	rs72549395	0.00004
NM_003924.4(PHOX2B):c.146C>A (p.Thr49Asn)	rs559227588	0.00004
NM_003982.4(SLC7A7):c.377del (p.Ile126fs)	rs774080549	0.00004
NM_003982.4(SLC7A7):c.625+1G>A	rs386833822	0.00004
NM_004064.5(CDKN1B):c.216C>T (p.Gly72=)	rs776643344	0.00004
NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala)	rs557128093	0.00004
NM_004369.4(COL6A3):c.2303G>A (p.Arg768His)	rs575412915	0.00004
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter)	rs398124151	0.00004
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg)	rs746598421	0.00004
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)	rs121964954	0.00004
NM_004453.4(ETFDH):c.523C>T (p.Arg175Cys)	rs762928354	0.00004
NM_004628.5(XPC):c.2074A>T (p.Lys692Ter)	rs374117852	0.00004
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser)	rs138656762	0.00004
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)	rs113994206	0.00004
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)	rs113994207	0.00004
NM_004946.3(DOCK2):c.1384-4T>C	rs1295678117	0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala)	rs779694939	0.00004
NM_005591.4(MRE11):c.1015A>T (p.Lys339Ter)	rs984874083	0.00004
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter)	rs587781384	0.00004
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg)	rs398124209	0.00004
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln)	rs150911354	0.00004
NM_005726.6(TSFM):c.944G>A (p.Cys315Tyr)	rs587777688	0.00004
NM_005994.4(TBX2):c.59G>A (p.Arg20Gln)	rs1364709483	0.00004
NM_006214.4(PHYH):c.497-2A>G	rs144169488	0.00004
NM_006231.4(POLE):c.155G>A (p.Arg52Gln)	rs372459649	0.00004
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter)	rs386833980	0.00004
NM_006493.4(CLN5):c.838G>T (p.Gly280Ter)	rs768449493	0.00004
NM_006567.5(FARS2):c.497C>T (p.Ala166Val)	rs538791135	0.00004
NM_006772.3(SYNGAP1):c.1724G>A (p.Arg575His)	rs758932190	0.00004
NM_006772.3(SYNGAP1):c.3913A>G (p.Thr1305Ala)	rs749376396	0.00004
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met)	rs121913659	0.00004
NM_007194.4(CHEK2):c.1008G>A (p.Gln336=)	rs201544715	0.00004
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs)	rs730881700	0.00004
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)	rs370968992	0.00004
NM_007315.4(STAT1):c.1727+13G>A	rs377146580	0.00004
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter)	rs775623164	0.00004
NM_014249.4(NR2E3):c.1025T>C (p.Val342Ala)	rs757665544	0.00004
NM_014252.4(SLC25A15):c.815C>T (p.Thr272Ile)	rs121908535	0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)	rs775059063	0.00004
NM_014625.4(NPHS2):c.851C>T (p.Ala284Val)	rs780761368	0.00004
NM_017613.4(DONSON):c.1047-9A>G	rs779149681	0.00004
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)	rs28940869	0.00004
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)	rs193919336	0.00004
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg)	rs121908820	0.00004
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg)	rs121909283	0.00004
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)	rs768785753	0.00004
NM_020320.5(RARS2):c.943C>T (p.Arg315Ter)	rs199835443	0.00004
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr)	rs121908372	0.00004
NM_020549.5(CHAT):c.1669G>A (p.Ala557Thr)	rs372760913	0.00004
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp)	rs775076977	0.00004
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter)	rs119471023	0.00004
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val)	rs119103224	0.00004
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu)	rs752866557	0.00004
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys)	rs547662164	0.00004
NM_024675.4(PALB2):c.100C>T (p.Arg34Cys)	rs373483056	0.00004
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val)	rs537258442	0.00004
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe)	rs373478248	0.00004
NM_024675.4(PALB2):c.2608G>A (p.Val870Ile)	rs376641234	0.00004
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)	rs45476495	0.00004
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp)	rs398122978	0.00004
NM_031885.5(BBS2):c.534+1G>T	rs773862084	0.00004
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)	rs752309409	0.00004
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)	rs121909762	0.00004
NM_032316.3(NICN1):c.*2328C>T	rs386833677	0.00004
NM_032861.4(SERAC1):c.1763del (p.Val588fs)	rs770661156	0.00004
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)	rs376128990	0.00004
NM_052859.4(RFT1):c.821A>G (p.Asp274Gly)	rs781066087	0.00004
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp)	rs121908640	0.00004
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys)	rs765338121	0.00004
NM_054012.4(ASS1):c.892del (p.Glu298fs)	rs770362721	0.00004
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr)	rs141984760	0.00004
NM_138694.4(PKHD1):c.11665+1G>A	rs759851475	0.00004
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu)	rs758352210	0.00004
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu)	rs199531851	0.00004
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)	rs367707903	0.00004
NM_144596.4(TTC8):c.489G>A (p.Thr163=)	rs119103286	0.00004
NM_144997.7(FLCN):c.1418T>C (p.Val473Ala)	rs144883828	0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)	rs28940315	0.00004
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu)	rs116733939	0.00004
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu)	rs1450190654	0.00004
NM_153006.3(NAGS):c.1292C>T (p.Thr431Ile)	rs761558985	0.00004
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)	rs386834182	0.00004
NM_177550.5(SLC13A5):c.1156+20C>T	rs368150158	0.00004
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln)	rs80356605	0.00004
NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe)	rs387906989	0.00004
NM_199242.3(UNC13D):c.2002C>T (p.Arg668Cys)	rs376137910	0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)	rs62635654	0.00004
NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn)	rs606231276	0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)	rs750396156	0.00004
NM_206933.4(USH2A):c.486-14G>A	rs374536346	0.00004
NM_206933.4(USH2A):c.7595-2144A>G	rs786200928	0.00004
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)	rs111033280	0.00004
NM_206933.4(USH2A):c.8682-9A>G	rs372347027	0.00004
NM_206933.4(USH2A):c.908G>A (p.Arg303His)	rs371777049	0.00004
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)	rs765648513	0.00004
NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter)	rs148207467	0.00003
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys)	rs398123072	0.00003
NM_000016.6(ACADM):c.216+5G>T	rs528788578	0.00003
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys)	rs778906552	0.00003
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys)	rs754359356	0.00003
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg)	rs747268471	0.00003
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val)	rs539029862	0.00003
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)	rs771874163	0.00003
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His)	rs112406105	0.00003
NM_000018.4(ACADVL):c.1182+1G>A	rs113690956	0.00003
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)	rs113994169	0.00003
NM_000018.4(ACADVL):c.1246G>T (p.Ala416Ser)	rs118204018	0.00003
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)	rs751995154	0.00003
NM_000018.4(ACADVL):c.1711G>A (p.Gly571Arg)	rs398123085	0.00003
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp)	rs1085307648	0.00003
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)	rs118204014	0.00003
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln)	rs534647044	0.00003
NM_000019.4(ACAT1):c.951C>T (p.Asp317=)	rs747714452	0.00003
NM_000022.4(ADA):c.715G>A (p.Gly239Ser)	rs777820729	0.00003
NM_000022.4(ADA):c.890C>A (p.Pro297Gln)	rs121908718	0.00003
NM_000023.4(SGCA):c.293G>A (p.Arg98His)	rs137852621	0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)	rs768814872	0.00003
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)	rs143962150	0.00003
NM_000027.4(AGA):c.319C>T (p.Arg107Ter)	rs765070743	0.00003
NM_000027.4(AGA):c.677G>A (p.Gly226Asp)	rs386833431	0.00003
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys)	rs180177227	0.00003
NM_000030.3(AGXT):c.847-3C>G	rs180177286	0.00003
NM_000035.4(ALDOB):c.-11+1G>C	rs181639417	0.00003
NM_000038.6(APC):c.1495C>G (p.Arg499Gly)	rs137854580	0.00003
NM_000038.6(APC):c.2090C>T (p.Ala697Val)	rs761733547	0.00003
NM_000038.6(APC):c.2738A>G (p.His913Arg)	rs762572576	0.00003
NM_000038.6(APC):c.70C>T (p.Arg24Ter)	rs145945630	0.00003
NM_000038.6(APC):c.7174C>A (p.Pro2392Thr)	rs730881257	0.00003
NM_000038.6(APC):c.757G>A (p.Gly253Ser)	rs772806807	0.00003
NM_000045.4(ARG1):c.383A>G (p.Asp128Gly)	rs140549609	0.00003
NM_000045.4(ARG1):c.871C>T (p.Arg291Ter)	rs104893940	0.00003
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys)	rs28940287	0.00003
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln)	rs767271619	0.00003
NM_000048.4(ASL):c.284G>A (p.Arg95His)	rs150244667	0.00003
NM_000048.4(ASL):c.577C>T (p.Arg193Trp)	rs1428029508	0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=)	rs1137887	0.00003
NM_000051.4(ATM):c.2449G>C (p.Asp817His)	rs587778067	0.00003
NM_000053.4(ATP7B):c.2363C>T (p.Thr788Ile)	rs541408630	0.00003
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met)	rs786204718	0.00003
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)	rs750019452	0.00003
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp)	rs746485916	0.00003
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu)	rs758355520	0.00003
NM_000057.4(BLM):c.3210+2del	rs587779886	0.00003
NM_000057.4(BLM):c.98+1G>C	rs750293380	0.00003
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)	rs771298943	0.00003
NM_000071.3(CBS):c.1058C>T (p.Thr353Met)	rs121964972	0.00003
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp)	rs769080151	0.00003
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu)	rs863223434	0.00003
NM_000071.3(CBS):c.374G>A (p.Arg125Gln)	rs781444670	0.00003
NM_000071.3(CBS):c.737-1G>C	rs757428597	0.00003
NM_000071.3(CBS):c.775G>A (p.Gly259Ser)	rs143124288	0.00003
NM_000071.3(CBS):c.785C>T (p.Thr262Met)	rs149119723	0.00003
NM_000080.4(CHRNE):c.-95G>A	rs990457690	0.00003
NM_000080.4(CHRNE):c.1007_1025del (p.His336fs)	rs1268475945	0.00003
NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu)	rs368311455	0.00003
NM_000102.4(CYP17A1):c.374G>A (p.Arg125Gln)	rs104894154	0.00003
NM_000108.5(DLD):c.1081A>G (p.Met361Val)	rs121964993	0.00003
NM_000110.4(DPYD):c.208C>T (p.Arg70Ter)	rs141597515	0.00003
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs)	rs386833497	0.00003
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)	rs149851163	0.00003
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)	rs371897078	0.00003
NM_000137.4(FAH):c.880A>C (p.Thr294Pro)	rs370634385	0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg)	rs199822819	0.00003
NM_000152.5(GAA):c.1316T>A (p.Met439Lys)	rs747610090	0.00003
NM_000152.5(GAA):c.1909C>A (p.Leu637Met)	rs763301606	0.00003
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)	rs776948121	0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His)	rs398123172	0.00003
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)	rs121907938	0.00003
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)	rs144016984	0.00003
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)	rs780321415	0.00003
NM_000152.5(GAA):c.2799+4A>G	rs778032599	0.00003
NM_000152.5(GAA):c.307T>G (p.Cys103Gly)	rs398123174	0.00003
NM_000152.5(GAA):c.503G>A (p.Arg168Gln)	rs376685205	0.00003
NM_000152.5(GAA):c.546G>A (p.Thr182=)	rs143523371	0.00003
NM_000154.2(GALK1):c.94G>A (p.Val32Met)	rs104894576	0.00003
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys)	rs111033814	0.00003
NM_000155.4(GALT):c.200G>A (p.Arg67His)	rs758430398	0.00003
NM_000155.4(GALT):c.292G>A (p.Asp98Asn)	rs111033670	0.00003
NM_000155.4(GALT):c.413C>T (p.Thr138Met)	rs111033686	0.00003
NM_000155.4(GALT):c.602G>A (p.Arg201His)	rs111033735	0.00003
NM_000157.4(GBA1):c.637C>T (p.Leu213Phe)	rs374591570	0.00003
NM_000157.4(GBA1):c.681T>G (p.Asn227Lys)	rs381418	0.00003
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln)	rs80338673	0.00003
NM_000158.4(GBE1):c.293T>G (p.Val98Gly)	rs775486403	0.00003
NM_000158.4(GBE1):c.708G>C (p.Gln236His)	rs137852892	0.00003
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)	rs567564095	0.00003
NM_000159.4(GCDH):c.1148G>A (p.Arg383His)	rs764608975	0.00003
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu)	rs1057516344	0.00003
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp)	rs766518430	0.00003
NM_000182.5(HADHA):c.1793_1794del (p.His598fs)	rs769580842	0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)	rs104894639	0.00003
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter)	rs374621913	0.00003
NM_000249.4(MLH1):c.116+5G>A	rs267607710	0.00003
NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn)	rs771044689	0.00003
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu)	rs56185292	0.00003
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)	rs63750952	0.00003
NM_000249.4(MLH1):c.376T>A (p.Tyr126Asn)	rs200076893	0.00003
NM_000249.4(MLH1):c.539T>G (p.Val180Gly)	rs63750102	0.00003
NM_000251.3(MSH2):c.1144C>T (p.Arg382Cys)	rs752373431	0.00003
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln)	rs56170584	0.00003
NM_000251.3(MSH2):c.260C>G (p.Ser87Cys)	rs587781447	0.00003
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)	rs397515907	0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	rs3218716	0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His)	rs397516260	0.00003
NM_000264.5(PTCH1):c.139C>T (p.Arg47Trp)	rs138729094	0.00003
NM_000268.4(NF2):c.1774T>C (p.Phe592Leu)	rs764972504	0.00003
NM_000274.4(OAT):c.596C>A (p.Pro199Gln)	rs267606925	0.00003
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met)	rs772019064	0.00003
NM_000275.3(OCA2):c.2086_2095del (p.Ala696fs)	rs746307353	0.00003
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)	rs780296175	0.00003
NM_000277.3(PAH):c.1066T>C (p.Tyr356His)	rs62507320	0.00003
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter)	rs62516095	0.00003
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu)	rs184148104	0.00003
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)	rs62516141	0.00003
NM_000277.3(PAH):c.1256A>G (p.Gln419Arg)	rs752255985	0.00003
NM_000277.3(PAH):c.428A>T (p.Asp143Val)	rs199475572	0.00003
NM_000277.3(PAH):c.516G>T (p.Gln172His)	rs192592111	0.00003
NM_000277.3(PAH):c.631C>A (p.Pro211Thr)	rs62514931	0.00003
NM_000277.3(PAH):c.916A>G (p.Ile306Val)	rs62642934	0.00003
NM_000277.3(PAH):c.965C>G (p.Ala322Gly)	rs62514958	0.00003
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)	rs774738181	0.00003
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val)	rs62641232	0.00003
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)	rs121909151	0.00003
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg)	rs121913551	0.00003
NM_000303.3(PMM2):c.640-9T>G	rs370160676	0.00003
NM_000310.4(PPT1):c.529C>G (p.Gln177Glu)	rs386833650	0.00003
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys)	rs762894736	0.00003
NM_000317.3(PTS):c.370G>T (p.Val124Leu)	rs150726932	0.00003
NM_000317.3(PTS):c.84-291A>G	rs1480995114	0.00003
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)	rs61752905	0.00003
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln)	rs121918717	0.00003
NM_000360.4(TH):c.1400A>G (p.Asp467Gly)	rs771351747	0.00003
NM_000360.4(TH):c.90+13G>A	rs77140743	0.00003
NM_000372.5(TYR):c.1064C>T (p.Ala355Val)	rs151206295	0.00003
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met)	rs72547562	0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)	rs5030869	0.00003
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys)	rs137852330	0.00003
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His)	rs748057401	0.00003
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter)	rs747349942	0.00003
NM_000426.4(LAMA2):c.939_940del (p.Cys314fs)	rs1209130981	0.00003
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro)	rs201660407	0.00003
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met)	rs121908363	0.00003
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)	rs542620119	0.00003
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)	rs587780021	0.00003
NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter)	rs879253880	0.00003
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn)	rs369561166	0.00003
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)	rs61750427	0.00003
NM_000466.3(PEX1):c.721del (p.Ser241fs)	rs894289737	0.00003
NM_000478.6(ALPL):c.892G>A (p.Glu298Lys)	rs121918017	0.00003
NM_000481.4(AMT):c.217C>T (p.Arg73Cys)	rs386833679	0.00003
NM_000481.4(AMT):c.878-1G>A	rs181134220	0.00003
NM_000481.4(AMT):c.887G>A (p.Arg296His)	rs386833690	0.00003
NM_000532.5(PCCB):c.1398+1G>T	rs794727092	0.00003
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg)	rs746102997	0.00003
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)	rs267608161	0.00003
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln)	rs864309559	0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)	rs111888148	0.00003
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His)	rs771336819	0.00003
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser)	rs587779408	0.00003
NM_000543.5(SMPD1):c.940G>A (p.Val314Met)	rs1228068212	0.00003
NM_000548.5(TSC2):c.325G>A (p.Val109Met)	rs369932305	0.00003
NM_000553.6(WRN):c.2959C>T (p.Arg987Ter)	rs747319628	0.00003
NM_000642.3(AGL):c.16C>T (p.Gln6Ter)	rs113994126	0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)	rs387906244	0.00003
NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter)	rs376456598	0.00003
NM_000709.4(BCKDHA):c.288+9C>T	rs398123497	0.00003
NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp)	rs398123499	0.00003
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His)	rs200137189	0.00003
NM_000784.4(CYP27A1):c.1263+1G>A	rs397515355	0.00003
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln)	rs121908097	0.00003
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln)	rs376230356	0.00003
NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg)	rs121909353	0.00003
NM_001018115.3(FANCD2):c.2605+1G>A	rs142365855	0.00003
NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys)	rs121434286	0.00003
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)	rs587782228	0.00003
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val)	rs2808001	0.00003
NM_001080453.3(INTS1):c.229C>T (p.Arg77Cys)	rs200649090	0.00003
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter)	rs104894176	0.00003
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs)	rs1491132258	0.00003
NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro)	rs568513106	0.00003
NM_001139.3(ALOX12B):c.1156C>T (p.Arg386Cys)	rs750066836	0.00003
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp)	rs397514532	0.00003
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs)	rs763028732	0.00003
NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr)	rs888739369	0.00003
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs)	rs1326370032	0.00003
NM_001164508.2(NEB):c.21155A>G (p.Tyr7052Cys)	rs755165133	0.00003
NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln)	rs749034995	0.00003
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys)	rs121918807	0.00003
NM_001206744.2(TPO):c.1994G>A (p.Arg665Gln)	rs140124953	0.00003
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)	rs398123061	0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp)	rs398123018	0.00003
NM_001283009.2(RTEL1):c.396-26C>T	rs80224512	0.00003
NM_001352514.2(HLCS):c.1960+5G>A	rs753887925	0.00003
NM_001352514.2(HLCS):c.2121+1G>A	rs1175936807	0.00003
NM_001358921.2(COQ2):c.440G>A (p.Arg147His)	rs121918231	0.00003
NM_001360.3(DHCR7):c.1076_1077dup (p.Leu360fs)	rs1318653026	0.00003
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys)	rs80338864	0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)	rs143312232	0.00003
NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter)	rs1032242817	0.00003
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter)	rs606231229	0.00003
NM_001370259.2(MEN1):c.1165C>T (p.Arg389Trp)	rs566593066	0.00003
NM_001370259.2(MEN1):c.566A>G (p.Asn189Ser)	rs587780844	0.00003
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu)	rs397514427	0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met)	rs397514375	0.00003
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)	rs397514377	0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg)	rs397507176	0.00003
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter)	rs886044666	0.00003
NM_001848.3(COL6A1):c.1960G>A (p.Glu654Lys)	rs375318905	0.00003
NM_001985.3(ETFB):c.274C>T (p.Pro92Ser)	rs758509148	0.00003
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile)	rs780594709	0.00003
NM_002225.5(IVD):c.1175G>A (p.Arg392His)	rs982218848	0.00003
NM_002225.5(IVD):c.851G>A (p.Arg284Gln)	rs373534546	0.00003
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr)	rs369326210	0.00003
NM_002435.3(MPI):c.305C>T (p.Ser102Leu)	rs104894494	0.00003
NM_002435.3(MPI):c.884G>A (p.Arg295His)	rs28928906	0.00003
NM_002528.7(NTHL1):c.604G>T (p.Glu202Ter)	rs919177150	0.00003
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln)	rs724160001	0.00003
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp)	rs121918053	0.00003
NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg)	rs121918049	0.00003
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)	rs201732356	0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	rs376607329	0.00003
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter)	rs387906843	0.00003
NM_003060.4(SLC22A5):c.1053-2A>C	rs777004046	0.00003
NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val)	rs199689597	0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)	rs151231558	0.00003
NM_003060.4(SLC22A5):c.453G>A (p.Val151=)	rs386134194	0.00003
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln)	rs121908889	0.00003
NM_003072.5(SMARCA4):c.3952-13C>A	rs374611879	0.00003
NM_003331.5(TYK2):c.691C>T (p.Arg231Trp)	rs201917359	0.00003
NM_003384.3(VRK1):c.356A>G (p.His119Arg)	rs371295780	0.00003
NM_003560.4(PLA2G6):c.1187-1G>A	rs1477656610	0.00003
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer)	rs587784353	0.00003
NM_003924.4(PHOX2B):c.391C>G (p.Leu131Val)	rs748614674	0.00003
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter)	rs386833807	0.00003
NM_004006.3(DMD):c.1812+1G>A	rs373286166	0.00003
NM_004304.5(ALK):c.872G>A (p.Arg291His)	rs572340007	0.00003
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro)	rs377686388	0.00003
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser)	rs751821289	0.00003
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer)	rs767795266	0.00003
NM_004453.4(ETFDH):c.405+3A>T	rs796051965	0.00003
NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter)	rs386833887	0.00003
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro)	rs143649022	0.00003
NM_005085.4(NUP214):c.112C>T (p.Arg38Cys)	rs143595616	0.00003
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=)	rs371874117	0.00003
NM_005476.7(GNE):c.1485G>A (p.Trp495Ter)	rs1212623980	0.00003
NM_005476.7(GNE):c.175C>T (p.Arg59Ter)	rs745517517	0.00003
NM_005476.7(GNE):c.1891G>A (p.Ala631Thr)	rs121908626	0.00003
NM_005476.7(GNE):c.527A>T (p.Asp176Val)	rs139425890	0.00003
NM_005476.7(GNE):c.80C>T (p.Pro27Leu)	rs1236647498	0.00003
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro)	rs1005687078	0.00003
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg)	rs769172044	0.00003
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)	rs780656375	0.00003
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter)	rs767739769	0.00003
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala)	rs375215281	0.00003
NM_005677.4(COLQ):c.1354C>T (p.Arg452Cys)	rs368932156	0.00003
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter)	rs121912628	0.00003
NM_006493.4(CLN5):c.522dup (p.Trp175fs)	rs386833979	0.00003
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)	rs587782471	0.00003
NM_007272.3(CTRC):c.649G>A (p.Gly217Ser)	rs202058123	0.00003
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr)	rs80357498	0.00003
NM_012203.2(GRHPR):c.905G>A (p.Arg302His)	rs180177323	0.00003
NM_012470.4(TNPO3):c.2326A>G (p.Ile776Val)	rs368873021	0.00003
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter)	rs755933716	0.00003
NM_013382.7(POMT2):c.1006+1G>A	rs533916138	0.00003
NM_014049.5(ACAD9):c.1832A>G (p.Tyr611Cys)	rs1057523761	0.00003
NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp)	rs104894492	0.00003
NM_014252.4(SLC25A15):c.337G>A (p.Gly113Ser)	rs199894905	0.00003
NM_014297.5(ETHE1):c.586G>A (p.Asp196Asn)	rs763799125	0.00003
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)	rs202199411	0.00003
NM_014625.4(NPHS2):c.643C>T (p.Gln215Ter)	rs778055996	0.00003
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser)	rs748812981	0.00003
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)	rs761221416	0.00003
NM_015713.5(RRM2B):c.329G>A (p.Arg110His)	rs267607025	0.00003
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)	rs137853105	0.00003
NM_018122.5(DARS2):c.172C>G (p.Arg58Gly)	rs375700548	0.00003
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln)	rs773450573	0.00003
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter)	rs267606739	0.00003
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp)	rs121908321	0.00003
NM_020320.5(RARS2):c.1679G>A (p.Arg560His)	rs756502974	0.00003
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys)	rs772887102	0.00003
NM_020458.4(TTC7A):c.211G>A (p.Glu71Lys)	rs147914967	0.00003
NM_020549.5(CHAT):c.1061C>T (p.Thr354Met)	rs769234940	0.00003
NM_020549.5(CHAT):c.620G>A (p.Arg207His)	rs764497513	0.00003
NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys)	rs541910371	0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)	rs146646971	0.00003
NM_020975.6(RET):c.3149G>A (p.Arg1050Gln)	rs200956659	0.00003
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys)	rs587778659	0.00003
NM_020975.6(RET):c.539G>A (p.Arg180Gln)	rs370736139	0.00003
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr)	rs200116631	0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)	rs376894444	0.00003
NM_024675.4(PALB2):c.110G>A (p.Arg37His)	rs202194596	0.00003
NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser)	rs367578415	0.00003
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn)	rs587781954	0.00003
NM_024675.4(PALB2):c.20A>G (p.Lys7Arg)	rs947155109	0.00003
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr)	rs587780214	0.00003
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr)	rs138273800	0.00003
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)	rs142132127	0.00003
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp)	rs104894371	0.00003
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)	rs147030232	0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)	rs121908179	0.00003
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg)	rs376306240	0.00003
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)	rs121908175	0.00003
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp)	rs121908178	0.00003
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)	rs571108955	0.00003
NM_033028.5(BBS4):c.712-1G>A	rs377031435	0.00003
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter)	rs756859126	0.00003
NM_054012.4(ASS1):c.571G>A (p.Glu191Lys)	rs777828000	0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)	rs121908639	0.00003
NM_133259.4(LRPPRC):c.515A>G (p.Tyr172Cys)	rs187584458	0.00003
NM_138425.4(C12orf57):c.1A>G (p.Met1Val)	rs587776954	0.00003
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp)	rs376040501	0.00003
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg)	rs754626014	0.00003
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter)	rs779050294	0.00003
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser)	rs142107837	0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs)	rs398124483	0.00003
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)	rs181208607	0.00003
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln)	rs770494581	0.00003
NM_144997.7(FLCN):c.1580G>A (p.Arg527Gln)	rs777826268	0.00003
NM_144997.7(FLCN):c.586A>G (p.Ile196Val)	rs201078144	0.00003
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr)	rs761231974	0.00003
NM_152443.3(RDH12):c.697G>C (p.Val233Leu)	rs140257538	0.00003
NM_152618.3(BBS12):c.1092del (p.Glu365fs)	rs770218590	0.00003
NM_172250.3(MMAA):c.658G>A (p.Val220Met)	rs150376474	0.00003
NM_176787.5(PIGN):c.1251+1G>A	rs1462805697	0.00003
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs)	rs398124572	0.00003
NM_198253.3(TERT):c.193C>G (p.Pro65Ala)	rs544215765	0.00003
NM_198576.4(AGRN):c.749A>C (p.Asn250Thr)	rs753435616	0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	rs28939720	0.00003
NM_201253.3(CRB1):c.2291G>A (p.Arg764His)	rs375040930	0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)	rs767648174	0.00003
NM_201548.5(CERKL):c.222del (p.Gln74fs)	rs1476585944	0.00003
NM_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.5167G>C (p.Gly1723Arg)	rs1342455785	0.00003
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter)	rs766590491	0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=)	rs111033272	0.00003
NM_206933.4(USH2A):c.9571-2A>G	rs751111524	0.00003
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg)	rs757434857	0.00002
NM_000016.6(ACADM):c.158G>A (p.Arg53His)	rs754938068	0.00002
NM_000016.6(ACADM):c.580A>G (p.Asn194Asp)	rs773677327	0.00002
NM_000016.6(ACADM):c.601del (p.Tyr201fs)	rs772650083	0.00002
NM_000016.6(ACADM):c.617G>A (p.Arg206His)	rs200724875	0.00002
NM_000016.6(ACADM):c.653C>G (p.Ala218Gly)	rs764268346	0.00002
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr)	rs758111285	0.00002
NM_000016.6(ACADM):c.709-13A>G	rs746483754	0.00002
NM_000016.6(ACADM):c.757G>A (p.Glu253Lys)	rs768884003	0.00002
NM_000016.6(ACADM):c.984del (p.Met328fs)	rs747610156	0.00002
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=)	rs779458466	0.00002
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)	rs2309689	0.00002
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln)	rs138058572	0.00002
NM_000018.4(ACADVL):c.1679-6G>A	rs113994171	0.00002
NM_000018.4(ACADVL):c.790A>G (p.Lys264Glu)	rs1231343685	0.00002
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs)	rs766192888	0.00002
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)	rs373771053	0.00002
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)	rs120074141	0.00002
NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp)	rs794727893	0.00002
NM_000022.4(ADA):c.350G>A (p.Trp117Ter)	rs749484894	0.00002
NM_000022.4(ADA):c.454C>A (p.Leu152Met)	rs121908728	0.00002
NM_000022.4(ADA):c.529G>A (p.Val177Met)	rs121908719	0.00002
NM_000022.4(ADA):c.704G>A (p.Arg235Gln)	rs79281338	0.00002
NM_000022.4(ADA):c.911T>G (p.Leu304Arg)	rs199422327	0.00002
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)	rs758647756	0.00002
NM_000023.4(SGCA):c.197T>A (p.Leu66His)	rs767928766	0.00002
NM_000027.4(AGA):c.503G>A (p.Trp168Ter)	rs386833430	0.00002
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys)	rs180177157	0.00002
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu)	rs121908522	0.00002
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg)	rs180177207	0.00002
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met)	rs1569541120	0.00002
NM_000038.6(APC):c.1589T>C (p.Val530Ala)	rs202199891	0.00002
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln)	rs377280518	0.00002
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)	rs118203941	0.00002
NM_000046.5(ARSB):c.305G>A (p.Arg102His)	rs759356342	0.00002
NM_000048.4(ASL):c.338G>A (p.Arg113Gln)	rs752783461	0.00002
NM_000048.4(ASL):c.638G>A (p.Arg213Gln)	rs1449589636	0.00002
NM_000049.4(ASPA):c.237-2A>T	rs780936696	0.00002
NM_000049.4(ASPA):c.820G>A (p.Gly274Arg)	rs761064915	0.00002
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val)	rs1555291801	0.00002
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp)	rs779323689	0.00002
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr)	rs201497300	0.00002
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val)	rs371840514	0.00002
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys)	rs756029120	0.00002
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro)	rs568009639	0.00002
NM_000053.4(ATP7B):c.676C>T (p.Arg226Trp)	rs749626601	0.00002
NM_000057.4(BLM):c.3028del (p.Asp1010fs)	rs780379121	0.00002
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)	rs398123151	0.00002
NM_000071.3(CBS):c.325T>C (p.Cys109Arg)	rs778220779	0.00002
NM_000071.3(CBS):c.361C>T (p.Arg121Cys)	rs775992753	0.00002
NM_000071.3(CBS):c.430G>A (p.Glu144Lys)	rs121964966	0.00002
NM_000071.3(CBS):c.689del (p.Leu230fs)	rs775351239	0.00002
NM_000071.3(CBS):c.959T>C (p.Val320Ala)	rs781567152	0.00002
NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro)	rs28929768	0.00002
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg)	rs372635387	0.00002
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser)	rs762139460	0.00002
NM_000102.4(CYP17A1):c.1247G>A (p.Arg416His)	rs104894155	0.00002
NM_000126.4(ETFA):c.625C>T (p.Arg209Ter)	rs199763682	0.00002
NM_000135.4(FANCA):c.190-2A>T	rs183350210	0.00002
NM_000135.4(FANCA):c.2778+1G>A	rs140180549	0.00002
NM_000136.3(FANCC):c.1302dup (p.Gly435fs)	rs730881709	0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)	rs104886458	0.00002
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter)	rs781542763	0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter)	rs377294947	0.00002
NM_000136.3(FANCC):c.843+1G>A	rs587779909	0.00002
NM_000137.4(FAH):c.1210G>A (p.Gly404Ser)	rs1297118863	0.00002
NM_000137.4(FAH):c.398A>T (p.His133Leu)	rs775152764	0.00002
NM_000137.4(FAH):c.696C>T (p.Asn232=)	rs533540262	0.00002
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg)	rs1250172816	0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)	rs80356484	0.00002
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val)	rs80356483	0.00002
NM_000152.5(GAA):c.1076-22T>G	rs762260678	0.00002
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)	rs772883420	0.00002
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)	rs765362308	0.00002
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys)	rs991082382	0.00002
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser)	rs1278340100	0.00002
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)	rs757617999	0.00002
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)	rs778418246	0.00002
NM_000152.5(GAA):c.317G>A (p.Arg106His)	rs772534106	0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)	rs750030887	0.00002
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys)	rs111033744	0.00002
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn)	rs774144200	0.00002
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr)	rs121909272	0.00002
NM_000158.4(GBE1):c.1468del (p.Leu490fs)	rs774465102	0.00002
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro)	rs137852886	0.00002
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val)	rs933624223	0.00002
NM_000159.4(GCDH):c.641C>T (p.Thr214Met)	rs1131692030	0.00002
NM_000159.4(GCDH):c.892G>A (p.Ala298Thr)	rs761765983	0.00002
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp)	rs779315456	0.00002
NM_000159.4(GCDH):c.938G>A (p.Arg313Gln)	rs746220312	0.00002
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp)	rs774393243	0.00002
NM_000182.5(HADHA):c.2114T>A (p.Val705Asp)	rs1240187200	0.00002
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser)	rs752317877	0.00002
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe)	rs780239925	0.00002
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys)	rs764057581	0.00002
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg)	rs761607612	0.00002
NM_000199.5(SGSH):c.383C>T (p.Pro128Leu)	rs104894642	0.00002
NM_000231.3(SGCG):c.386-1G>A	rs913248720	0.00002
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)	rs555514820	0.00002
NM_000249.4(MLH1):c.595G>C (p.Glu199Gln)	rs63749887	0.00002
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu)	rs374135434	0.00002
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys)	rs63750328	0.00002
NM_000251.3(MSH2):c.80C>T (p.Pro27Leu)	rs750746034	0.00002
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu)	rs751203469	0.00002
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)	rs753520553	0.00002
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys)	rs781065429	0.00002
NM_000277.3(PAH):c.1066-3C>T	rs62507344	0.00002
NM_000277.3(PAH):c.1136T>C (p.Val379Ala)	rs746203167	0.00002
NM_000277.3(PAH):c.1218A>G (p.Ile406Met)	rs773526027	0.00002
NM_000277.3(PAH):c.283A>T (p.Ile95Phe)	rs62508682	0.00002
NM_000277.3(PAH):c.463C>T (p.Arg155Cys)	rs539743701	0.00002
NM_000277.3(PAH):c.558_559del (p.Trp187fs)	rs62517207	0.00002
NM_000277.3(PAH):c.581T>C (p.Leu194Pro)	rs5030844	0.00002
NM_000277.3(PAH):c.806del (p.Ile269fs)	rs62508687	0.00002
NM_000277.3(PAH):c.842+5G>A	rs62516146	0.00002
NM_000282.4(PCCA):c.775_779del (p.Leu259fs)	rs794726976	0.00002
NM_000295.5(SERPINA1):c.701T>A (p.Val234Glu)	rs746197812	0.00002
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter)	rs1555448899	0.00002
NM_000303.3(PMM2):c.255+1G>A	rs1060499598	0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)	rs104894526	0.00002
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter)	rs199562225	0.00002
NM_000317.3(PTS):c.400G>A (p.Glu134Lys)	rs779681799	0.00002
NM_000317.3(PTS):c.84-3C>G	rs1230781262	0.00002
NM_000359.3(TGM1):c.1223_1227del (p.Asp408fs)	rs398122905	0.00002
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg)	rs121918725	0.00002
NM_000359.3(TGM1):c.857G>A (p.Arg286Gln)	rs121918727	0.00002
NM_000359.3(TGM1):c.967C>T (p.Arg323Trp)	rs771820315	0.00002
NM_000360.4(TH):c.1388C>T (p.Thr463Met)	rs45471299	0.00002
NM_000360.4(TH):c.216C>T (p.Ala72=)	rs773288225	0.00002
NM_000360.4(TH):c.292C>T (p.Arg98Ter)	rs1057519220	0.00002
NM_000360.4(TH):c.787G>C (p.Gly263Arg)	rs755536257	0.00002
NM_000370.3(TTPA):c.552G>A (p.Thr184=)	rs181109321	0.00002
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)	rs35916840	0.00002
NM_000372.5(TYR):c.1366+1G>T	rs369610829	0.00002
NM_000380.4(XPA):c.555G>C (p.Gln185His)	rs746617574	0.00002
NM_000396.4(CTSK):c.746T>C (p.Ile249Thr)	rs199919553	0.00002
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp)	rs773305477	0.00002
NM_000426.4(LAMA2):c.283+1G>A	rs200288072	0.00002
NM_000426.4(LAMA2):c.5562+5G>C	rs771046502	0.00002
NM_000426.4(LAMA2):c.7658del (p.Ser2553fs)	rs1293303410	0.00002
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys)	rs147952620	0.00002
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys)	rs763006761	0.00002
NM_000465.4(BARD1):c.1569-13C>G	rs587780018	0.00002
NM_000478.6(ALPL):c.1348C>T (p.Arg450Cys)	rs138690664	0.00002
NM_000478.6(ALPL):c.303C>A (p.Tyr101Ter)	rs746273959	0.00002
NM_000478.6(ALPL):c.484G>A (p.Gly162Ser)	rs760029254	0.00002
NM_000478.6(ALPL):c.655A>G (p.Met219Val)	rs772432010	0.00002
NM_000478.6(ALPL):c.667C>T (p.Arg223Trp)	rs766076920	0.00002
NM_000478.6(ALPL):c.815G>A (p.Arg272His)	rs781272386	0.00002
NM_000481.4(AMT):c.794G>A (p.Arg265His)	rs757918826	0.00002
NM_000492.4(CFTR):c.165-3C>T	rs200337193	0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)	rs144055758	0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)	rs374705585	0.00002
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His)	rs28934586	0.00002
NM_000497.4(CYP11B1):c.412C>T (p.Arg138Cys)	rs764251434	0.00002
NM_000497.4(CYP11B1):c.995G>A (p.Arg332Gln)	rs149881706	0.00002
NM_000528.4(MAN2B1):c.1929-1G>T	rs763100457	0.00002
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter)	rs121434331	0.00002
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg)	rs768233248	0.00002
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys)	rs121964961	0.00002
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu)	rs780837200	0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)	rs146876145	0.00002
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu)	rs753508874	0.00002
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys)	rs769904764	0.00002
NM_000543.5(SMPD1):c.757G>C (p.Asp253His)	rs398123479	0.00002
NM_000553.6(WRN):c.210-1G>A	rs758988621	0.00002
NM_000553.6(WRN):c.329dup (p.Tyr110Ter)	rs766733097	0.00002
NM_000553.6(WRN):c.3460-7T>A	rs1334937558	0.00002
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)	rs113994129	0.00002
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp)	rs942815730	0.00002
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val)	rs375785084	0.00002
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys)	rs145901144	0.00002
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter)	rs533885672	0.00002
NM_000925.4(PDHB):c.956A>T (p.Asp319Val)	rs199983136	0.00002
NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter)	rs771869385	0.00002
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter)	rs745930696	0.00002
NM_001042432.2(CLN3):c.1001G>A (p.Arg334His)	rs386833695	0.00002
NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter)	rs386833697	0.00002
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)	rs765893479	0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)	rs137854550	0.00002
NM_001042492.3(NF1):c.623C>T (p.Ala208Val)	rs758624540	0.00002
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)	rs762307622	0.00002
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)	rs747993448	0.00002
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)	rs34126013	0.00002
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys)	rs200495564	0.00002
NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter)	rs786203115	0.00002
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)	rs119464998	0.00002
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala)	rs179363900	0.00002
NM_001142800.2(EYS):c.-448+5G>A	rs1175129177	0.00002
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)	rs74419361	0.00002
NM_001142800.2(EYS):c.32dup (p.Met12fs)	rs779372264	0.00002
NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter)	rs933169926	0.00002
NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter)	rs527236067	0.00002
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp)	rs748838955	0.00002
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr)	rs80356492	0.00002
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)	rs781784543	0.00002
NM_001243279.3(ACSF3):c.1535G>A (p.Trp512Ter)	rs1450563045	0.00002
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter)	rs201954387	0.00002
NM_001243279.3(ACSF3):c.238C>T (p.Gln80Ter)	rs138156311	0.00002
NM_001243279.3(ACSF3):c.576G>A (p.Trp192Ter)	rs771558691	0.00002
NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter)	rs145583876	0.00002
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp)	rs104893613	0.00002
NM_001347721.2(DYRK1A):c.1307C>T (p.Thr436Met)	rs759524625	0.00002
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp)	rs769499327	0.00002
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys)	rs781603756	0.00002
NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn)	rs773398782	0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)	rs119103228	0.00002
NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln)	rs751604696	0.00002
NM_001360.3(DHCR7):c.321G>C (p.Gln107His)	rs104886040	0.00002
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys)	rs979416826	0.00002
NM_001370259.2(MEN1):c.1522C>A (p.Gln508Lys)	rs386833403	0.00002
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)	rs397514367	0.00002
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)	rs397514369	0.00002
NM_001384474.1(LOXHD1):c.4212+1G>A	rs889110926	0.00002
NM_001497.4(B4GALT1):c.61C>T (p.Arg21Trp)	rs1065764	0.00002
NM_001876.4(CPT1A):c.1386del (p.Phe462fs)	rs753776604	0.00002
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn)	rs104894678	0.00002
NM_002225.5(IVD):c.-9A>T	rs373594717	0.00002
NM_002225.5(IVD):c.205G>A (p.Asp69Asn)	rs747273828	0.00002
NM_002225.5(IVD):c.596G>T (p.Gly199Val)	rs121434285	0.00002
NM_002225.5(IVD):c.865G>A (p.Gly289Arg)	rs568885234	0.00002
NM_002382.5(MAX):c.329A>C (p.Gln110Pro)	rs775808138	0.00002
NM_002382.5(MAX):c.397G>A (p.Ala133Thr)	rs750459929	0.00002
NM_002437.5(MPV17):c.376-9T>G	rs368900406	0.00002
NM_002528.7(NTHL1):c.115+1G>A	rs749908882	0.00002
NM_002617.4(PEX10):c.868C>G (p.His290Asp)	rs61752094	0.00002
NM_002691.4(POLD1):c.1597G>A (p.Val533Met)	rs758602573	0.00002
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys)	rs199759055	0.00002
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr)	rs763393580	0.00002
NM_002878.4(RAD51D):c.363del (p.Ala122fs)	rs730881935	0.00002
NM_002878.4(RAD51D):c.451C>T (p.Gln151Ter)	rs587781756	0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)	rs370228071	0.00002
NM_002887.4(RARS1):c.1535G>A (p.Arg512Gln)	rs369398935	0.00002
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp)	rs267607054	0.00002
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter)	rs386134212	0.00002
NM_003982.4(SLC7A7):c.1460del (p.Cys487fs)	rs386833809	0.00002
NM_003982.4(SLC7A7):c.545dup (p.Val183fs)	rs386833818	0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	rs104894396	0.00002
NM_004304.5(ALK):c.2239G>A (p.Gly747Arg)	rs762395127	0.00002
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile)	rs34738426	0.00002
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu)	rs761669036	0.00002
NM_004453.4(ETFDH):c.545G>A (p.Trp182Ter)	rs767249944	0.00002
NM_004577.4(PSPH):c.94G>A (p.Asp32Asn)	rs104894035	0.00002
NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp)	rs386833874	0.00002
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)	rs386833880	0.00002
NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp)	rs386833912	0.00002
NM_004646.4(NPHS1):c.2600G>A (p.Gly867Asp)	rs753656470	0.00002
NM_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter)	rs150855173	0.00002
NM_004646.4(NPHS1):c.928G>A (p.Asp310Asn)	rs763972372	0.00002
NM_004656.4(BAP1):c.1251-11G>A	rs981419588	0.00002
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)	rs113994204	0.00002
NM_005076.5(CNTN2):c.2111G>A (p.Arg704Gln)	rs139732381	0.00002
NM_005476.7(GNE):c.829C>T (p.Arg277Cys)	rs762106720	0.00002
NM_005591.4(MRE11):c.1867+2T>C	rs745677716	0.00002
NM_005591.4(MRE11):c.659+1G>A	rs759130031	0.00002
NM_005591.4(MRE11):c.77T>C (p.Met26Thr)	rs372068015	0.00002
NM_005609.4(PYGM):c.1366G>A (p.Val456Met)	rs398124208	0.00002
NM_005609.4(PYGM):c.1768+2T>G	rs747513238	0.00002
NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp)	rs750195683	0.00002
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter)	rs1057517145	0.00002
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro)	rs776680924	0.00002
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys)	rs200038732	0.00002
NM_006019.4(TCIRG1):c.117+1G>A	rs377303800	0.00002
NM_006019.4(TCIRG1):c.1555-2A>C	rs758977199	0.00002
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln)	rs137853100	0.00002
NM_006261.5(PROP1):c.373C>T (p.Arg125Trp)	rs146918863	0.00002
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter)	rs386833971	0.00002
NM_006772.3(SYNGAP1):c.4013G>A (p.Arg1338Gln)	rs747376669	0.00002
NM_006949.4(STXBP2):c.1214G>A (p.Arg405Gln)	rs773360200	0.00002
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)	rs200928781	0.00002
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)	rs371657037	0.00002
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs)	rs750616657	0.00002
NM_007294.4(BRCA1):c.5332+4A>G	rs80358166	0.00002
NM_007327.4(GRIN1):c.794-11T>A	rs1347697507	0.00002
NM_012203.2(GRHPR):c.735-1G>A	rs180177317	0.00002
NM_012330.4(KAT6B):c.4834C>T (p.Arg1612Cys)	rs140992439	0.00002
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=)	rs386833990	0.00002
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer)	rs386833992	0.00002
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs)	rs774242915	0.00002
NM_013339.4(ALG6):c.257+2dup	rs745426479	0.00002
NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys)	rs149753643	0.00002
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp)	rs753711253	0.00002
NM_014249.4(NR2E3):c.290G>A (p.Arg97His)	rs1489149705	0.00002
NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys)	rs527236086	0.00002
NM_014252.4(SLC25A15):c.538G>A (p.Glu180Lys)	rs104894424	0.00002
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)	rs750732115	0.00002
NM_014384.3(ACAD8):c.905G>A (p.Arg302Gln)	rs121908422	0.00002
NM_014946.4(SPAST):c.878C>T (p.Pro293Leu)	rs773193617	0.00002
NM_015311.3(OBSL1):c.3955C>T (p.Gln1319Ter)	rs1057518717	0.00002
NM_015909.4(NBAS):c.409C>T (p.Arg137Trp)	rs368085185	0.00002
NM_016327.3(UPB1):c.873+1G>A	rs747539101	0.00002
NM_016630.7(SPG21):c.141A>G (p.Ile47Met)	rs776641719	0.00002
NM_018255.4(ELP2):c.178C>T (p.Arg60Ter)	rs553697188	0.00002
NM_020166.5(MCCC1):c.137-2A>G	rs727504006	0.00002
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)	rs185741664	0.00002
NM_020458.4(TTC7A):c.1433T>C (p.Leu478Pro)	rs201100272	0.00002
NM_020975.6(RET):c.3200C>T (p.Pro1067Leu)	rs760625882	0.00002
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp)	rs141030969	0.00002
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr)	rs773774134	0.00002
NM_024120.5(NDUFAF5):c.686T>C (p.Leu229Pro)	rs118203929	0.00002
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp)	rs760345680	0.00002
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys)	rs193922709	0.00002
NM_024675.4(PALB2):c.1213C>G (p.Pro405Ala)	rs545119348	0.00002
NM_024675.4(PALB2):c.212-2A>G	rs730881879	0.00002
NM_024675.4(PALB2):c.2978C>T (p.Thr993Met)	rs61756146	0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)	rs180177132	0.00002
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)	rs587776527	0.00002
NM_024675.4(PALB2):c.995T>A (p.Leu332His)	rs377149139	0.00002
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro)	rs1460517643	0.00002
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer)	rs1555202584	0.00002
NM_024757.5(EHMT1):c.1319C>T (p.Pro440Leu)	rs146814571	0.00002
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser)	rs119470018	0.00002
NM_025099.6(CTC1):c.1360del (p.Glu454fs)	rs748852501	0.00002
NM_031885.5(BBS2):c.118G>T (p.Val40Phe)	rs886043059	0.00002
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)	rs762047808	0.00002
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)	rs387907236	0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr)	rs766785968	0.00002
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter)	rs1481415459	0.00002
NM_052845.4(MMAB):c.548A>T (p.His183Leu)	rs752866643	0.00002
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys)	rs398124434	0.00002
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg)	rs199751308	0.00002
NM_058216.3(RAD51C):c.571+5G>A	rs145779113	0.00002
NM_058216.3(RAD51C):c.706-2A>G	rs587780259	0.00002
NM_058216.3(RAD51C):c.746G>A (p.Arg249His)	rs730881925	0.00002
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)	rs148617572	0.00002
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)	rs199568593	0.00002
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)	rs773136605	0.00002
NM_138694.4(PKHD1):c.390+1G>T	rs752327566	0.00002
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe)	rs367970695	0.00002
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys)	rs777999875	0.00002
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn)	rs774290802	0.00002
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)	rs893497345	0.00002
NM_144997.7(FLCN):c.249+4A>G	rs753648691	0.00002
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp)	rs759408031	0.00002
NM_153006.3(NAGS):c.739C>T (p.Gln247Ter)	rs748875458	0.00002
NM_153033.5(KCTD7):c.458G>A (p.Arg153His)	rs765235486	0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=)	rs151045328	0.00002
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro)	rs864309726	0.00002
NM_173354.5(SIK1):c.2034G>T (p.Gln678His)	rs775749558	0.00002
NM_182914.3(SYNE2):c.9778C>T (p.Arg3260Cys)	rs570116954	0.00002
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu)	rs398124561	0.00002
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys)	rs753966933	0.00002
NM_199292.3(TH):c.-71C>T	rs549435434	0.00002
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)	rs145282040	0.00002
NM_201548.5(CERKL):c.1315C>T (p.Arg439Trp)	rs139300604	0.00002
NM_201548.5(CERKL):c.481+2T>G	rs753994107	0.00002
NM_206933.4(USH2A):c.11048-2A>G	rs200871041	0.00002
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp)	rs759898765	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.4732C>T (p.Arg1578Cys)	rs201529124	0.00002
NM_206933.4(USH2A):c.5857+2T>C	rs397518022	0.00002
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)	rs201863550	0.00002
NM_000016.6(ACADM):c.1042C>T (p.Arg348Cys)	rs1648832587	0.00001
NM_000016.6(ACADM):c.1052C>T (p.Thr351Ile)	rs766140986	0.00001
NM_000016.6(ACADM):c.1237C>T (p.Arg413Cys)	rs139686925	0.00001
NM_000016.6(ACADM):c.1238G>A (p.Arg413His)	rs1337929727	0.00001
NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter)	rs753928772	0.00001
NM_000016.6(ACADM):c.253G>T (p.Gly85Cys)	rs398123075	0.00001
NM_000016.6(ACADM):c.320T>C (p.Leu107Ser)	rs746136472	0.00001
NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr)	rs875989859	0.00001
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile)	rs121434283	0.00001
NM_000016.6(ACADM):c.395C>G (p.Pro132Arg)	rs875989854	0.00001
NM_000016.6(ACADM):c.447G>A (p.Met149Ile)	rs121434277	0.00001
NM_000016.6(ACADM):c.464T>C (p.Met155Thr)	rs875989876	0.00001
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala)	rs745844469	0.00001
NM_000016.6(ACADM):c.599+1G>A	rs866388216	0.00001
NM_000016.6(ACADM):c.609A>C (p.Leu203Phe)	rs751829413	0.00001
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys)	rs373715782	0.00001
NM_000016.6(ACADM):c.661G>A (p.Gly221Arg)	rs753627680	0.00001
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr)	rs770273135	0.00001
NM_000016.6(ACADM):c.709-1G>A	rs941714381	0.00001
NM_000016.6(ACADM):c.717C>G (p.Asn239Lys)	rs1348176225	0.00001
NM_000016.6(ACADM):c.728G>A (p.Arg243Gln)	rs373852490	0.00001
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu)	rs121434281	0.00001
NM_000016.6(ACADM):c.849+2T>C	rs780737237	0.00001
NM_000016.6(ACADM):c.92G>A (p.Arg31His)	rs529894272	0.00001
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly)	rs387906950	0.00001
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg)	rs398123079	0.00001
NM_000018.4(ACADVL):c.1045G>A (p.Ala349Thr)	rs1567565733	0.00001
NM_000018.4(ACADVL):c.1077+1G>T	rs140989450	0.00001
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser)	rs758928307	0.00001
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn)	rs1057523504	0.00001
NM_000018.4(ACADVL):c.1182+3G>T	rs376281637	0.00001
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met)	rs149116708	0.00001
NM_000018.4(ACADVL):c.1268C>A (p.Ser423Ter)	rs1451455641	0.00001
NM_000018.4(ACADVL):c.1269G>A (p.Ser423=)	rs765356942	0.00001
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)	rs118204016	0.00001
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter)	rs794727113	0.00001
NM_000018.4(ACADVL):c.1368dup (p.Ile457fs)	rs1175359422	0.00001
NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu)	rs118204017	0.00001
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp)	rs766742117	0.00001
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu)	rs200366828	0.00001
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp)	rs113994170	0.00001
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln)	rs398123083	0.00001
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro)	rs759775666	0.00001
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln)	rs200771970	0.00001
NM_000018.4(ACADVL):c.1807dup (p.Cys603fs)	rs1555529088	0.00001
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu)	rs750043368	0.00001
NM_000018.4(ACADVL):c.342+18G>A	rs372594520	0.00001
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)	rs1057520088	0.00001
NM_000018.4(ACADVL):c.497_498del (p.Ile166fs)	rs1057516369	0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)	rs727503791	0.00001
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)	rs545215807	0.00001
NM_000018.4(ACADVL):c.577G>C (p.Gly193Arg)	rs763630981	0.00001
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro)	rs398123090	0.00001
NM_000018.4(ACADVL):c.622G>A (p.Gly208Arg)	rs748329498	0.00001
NM_000018.4(ACADVL):c.637G>C (p.Ala213Pro)	rs140629318	0.00001
NM_000018.4(ACADVL):c.652_682dup (p.Ile228fs)	rs746860401	0.00001
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)	rs398123091	0.00001
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter)	rs786204536	0.00001
NM_000018.4(ACADVL):c.753-2A>C	rs398123092	0.00001
NM_000018.4(ACADVL):c.878+1G>C	rs757946752	0.00001
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu)	rs200573371	0.00001
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs)	rs753108198	0.00001
NM_000018.4(ACADVL):c.896A>T (p.Lys299Met)	rs771247610	0.00001
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr)	rs748303093	0.00001
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile)	rs377295639	0.00001
NM_000019.4(ACAT1):c.30del (p.Ser10fs)	rs1565281236	0.00001
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser)	rs1278227329	0.00001
NM_000019.4(ACAT1):c.380C>T (p.Ala127Val)	rs1591363760	0.00001
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)	rs148639841	0.00001
NM_000019.4(ACAT1):c.749del (p.Val250fs)	rs1565293957	0.00001
NM_000019.4(ACAT1):c.826+1G>T	rs727503796	0.00001
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr)	rs120074146	0.00001
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro)	rs120074147	0.00001
NM_000022.4(ADA):c.301C>T (p.Arg101Trp)	rs121908717	0.00001
NM_000022.4(ADA):c.43C>G (p.His15Asp)	rs121908725	0.00001
NM_000022.4(ADA):c.445C>T (p.Arg149Trp)	rs121908733	0.00001
NM_000022.4(ADA):c.466C>T (p.Arg156Cys)	rs121908735	0.00001
NM_000022.4(ADA):c.467G>A (p.Arg156His)	rs121908722	0.00001
NM_000022.4(ADA):c.536C>A (p.Ala179Asp)	rs121908727	0.00001
NM_000022.4(ADA):c.58G>A (p.Gly20Arg)	rs121908724	0.00001
NM_000022.4(ADA):c.631C>T (p.Arg211Cys)	rs121908740	0.00001
NM_000022.4(ADA):c.845+1G>C	rs766590645	0.00001
NM_000022.4(ADA):c.845G>A (p.Arg282Gln)	rs751635016	0.00001
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr)	rs60407644	0.00001
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr)	rs759692350	0.00001
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp)	rs757888349	0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)	rs372210292	0.00001
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)	rs748936034	0.00001
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro)	rs777821034	0.00001
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro)	rs771121666	0.00001
NM_000026.4(ADSL):c.439A>G (p.Lys147Glu)	rs746180694	0.00001
NM_000027.4(AGA):c.395-8A>G	rs386833426	0.00001
NM_000027.4(AGA):c.770C>T (p.Thr257Ile)	rs386833434	0.00001
NM_000027.4(AGA):c.800dup (p.Pro268fs)	rs386833436	0.00001
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln)	rs180177161	0.00001
NM_000030.3(AGXT):c.107G>A (p.Arg36His)	rs180177162	0.00001
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs)	rs180177166	0.00001
NM_000030.3(AGXT):c.122G>T (p.Gly41Val)	rs180177168	0.00001
NM_000030.3(AGXT):c.2T>C (p.Met1Thr)	rs138584408	0.00001
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln)	rs180177203	0.00001
NM_000030.3(AGXT):c.777-1G>C	rs180177267	0.00001
NM_000030.3(AGXT):c.976del (p.Val326fs)	rs180177301	0.00001
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)	rs781862879	0.00001
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter)	rs370793608	0.00001
NM_000038.6(APC):c.1121G>A (p.Arg374Gln)	rs141582813	0.00001
NM_000038.6(APC):c.6508C>T (p.Pro2170Ser)	rs1229142303	0.00001
NM_000038.6(APC):c.7262C>T (p.Ser2421Leu)	rs536557651	0.00001
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg)	rs753829097	0.00001
NM_000045.4(ARG1):c.425G>A (p.Gly142Glu)	rs767219084	0.00001
NM_000045.4(ARG1):c.57+1G>A	rs587776539	0.00001
NM_000045.4(ARG1):c.703G>A (p.Gly235Arg)	rs104893948	0.00001
NM_000046.5(ARSB):c.1336+1G>A	rs376233975	0.00001
NM_000046.5(ARSB):c.1340G>C (p.Cys447Ser)	rs1465993279	0.00001
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys)	rs555785323	0.00001
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp)	rs1064793027	0.00001
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg)	rs397514441	0.00001
NM_000046.5(ARSB):c.349T>C (p.Cys117Arg)	rs118203939	0.00001
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg)	rs746206847	0.00001
NM_000046.5(ARSB):c.499G>A (p.Gly167Arg)	rs1554087999	0.00001
NM_000046.5(ARSB):c.900T>A (p.Asp300Glu)	rs1280123243	0.00001
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln)	rs727503809	0.00001
NM_000048.4(ASL):c.1128C>A (p.Tyr376Ter)	rs764546937	0.00001
NM_000048.4(ASL):c.1154G>A (p.Arg385His)	rs746120802	0.00001
NM_000048.4(ASL):c.1193C>A (p.Ala398Asp)	rs770167670	0.00001
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs)	rs757109353	0.00001
NM_000048.4(ASL):c.280C>T (p.Arg94Cys)	rs374304304	0.00001
NM_000048.4(ASL):c.283C>T (p.Arg95Cys)	rs28940585	0.00001
NM_000048.4(ASL):c.331C>T (p.Arg111Trp)	rs138310841	0.00001
NM_000048.4(ASL):c.332G>A (p.Arg111Gln)	rs561367199	0.00001
NM_000048.4(ASL):c.349-1G>A	rs1395478201	0.00001
NM_000048.4(ASL):c.376C>T (p.Arg126Trp)	rs201962738	0.00001
NM_000048.4(ASL):c.377G>A (p.Arg126Gln)	rs777235530	0.00001
NM_000048.4(ASL):c.446+2T>C	rs1268519003	0.00001
NM_000048.4(ASL):c.467C>T (p.Pro156Leu)	rs769017508	0.00001
NM_000048.4(ASL):c.507G>C (p.Trp169Cys)	rs759952363	0.00001
NM_000048.4(ASL):c.545G>A (p.Arg182Gln)	rs751590073	0.00001
NM_000048.4(ASL):c.566A>G (p.Glu189Gly)	rs756363516	0.00001
NM_000048.4(ASL):c.602+1G>A	rs398123127	0.00001
NM_000048.4(ASL):c.707G>A (p.Arg236Gln)	rs764602422	0.00001
NM_000048.4(ASL):c.91G>A (p.Asp31Asn)	rs754995756	0.00001
NM_000048.4(ASL):c.978G>C (p.Gln326His)	rs764356037	0.00001
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys)	rs779440632	0.00001
NM_000049.4(ASPA):c.368G>A (p.Gly123Glu)	rs1057521115	0.00001
NM_000049.4(ASPA):c.47T>C (p.Ile16Thr)	rs769653717	0.00001
NM_000049.4(ASPA):c.503G>A (p.Arg168His)	rs770706390	0.00001
NM_000049.4(ASPA):c.539G>T (p.Gly180Val)	rs1014551540	0.00001
NM_000049.4(ASPA):c.634+1G>T	rs753871454	0.00001
NM_000049.4(ASPA):c.770C>G (p.Pro257Arg)	rs377217076	0.00001
NM_000049.4(ASPA):c.838C>T (p.Pro280Ser)	rs750505963	0.00001
NM_000049.4(ASPA):c.859G>A (p.Ala287Thr)	rs774323189	0.00001
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)	rs202173660	0.00001
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys)	rs765965513	0.00001
NM_000051.4(ATM):c.2251-10T>G	rs730881346	0.00001
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)	rs730881389	0.00001
NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro)	rs747800057	0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)	rs139770721	0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)	rs202206540	0.00001
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr)	rs774281788	0.00001
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser)	rs531617441	0.00001
NM_000051.4(ATM):c.7629+2T>C	rs786203059	0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)	rs371638537	0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)	rs587779872	0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu)	rs747727055	0.00001
NM_000053.4(ATP7B):c.1285+2T>A	rs759749626	0.00001
NM_000053.4(ATP7B):c.1708-5T>G	rs770829226	0.00001
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp)	rs797045402	0.00001
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp)	rs374172791	0.00001
NM_000053.4(ATP7B):c.1946+6T>C	rs751287778	0.00001
NM_000053.4(ATP7B):c.2122-8T>G	rs193922102	0.00001
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp)	rs1394999756	0.00001
NM_000053.4(ATP7B):c.2267C>T (p.Ala756Val)	rs769927137	0.00001
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=)	rs372979339	0.00001
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met)	rs121907997	0.00001
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe)	rs751710854	0.00001
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile)	rs777629392	0.00001
NM_000053.4(ATP7B):c.254G>T (p.Gly85Val)	rs786204643	0.00001
NM_000053.4(ATP7B):c.2575+1G>C	rs766149114	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.2924C>A (p.Ser975Tyr)	rs778163447	0.00001
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu)	rs201038679	0.00001
NM_000053.4(ATP7B):c.3060+5G>T	rs1353373400	0.00001
NM_000053.4(ATP7B):c.3140A>T (p.Asp1047Val)	rs1395504465	0.00001
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val)	rs587783309	0.00001
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter)	rs753250853	0.00001
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser)	rs761632029	0.00001
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr)	rs560952220	0.00001
NM_000053.4(ATP7B):c.331C>T (p.Gln111Ter)	rs774221179	0.00001
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)	rs786204547	0.00001
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln)	rs767464491	0.00001
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe)	rs769484789	0.00001
NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter)	rs1033235740	0.00001
NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp)	rs779494870	0.00001
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter)	rs193922110	0.00001
NM_000053.4(ATP7B):c.4150dup (p.Tyr1384fs)	rs1555282316	0.00001
NM_000053.4(ATP7B):c.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_000057.4(BLM):c.1301C>G (p.Ser434Ter)	rs754203833	0.00001
NM_000057.4(BLM):c.1490A>G (p.Gln497Arg)	rs368547042	0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)	rs786204471	0.00001
NM_000057.4(BLM):c.2407T>C (p.Trp803Arg)	rs148394770	0.00001
NM_000057.4(BLM):c.2488dup (p.Thr830fs)	rs367543019	0.00001
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg)	rs746218707	0.00001
NM_000057.4(BLM):c.3210+4A>G	rs776621429	0.00001
NM_000057.4(BLM):c.3667dup (p.Thr1223fs)	rs1057517154	0.00001
NM_000057.4(BLM):c.3875-2A>G	rs150421256	0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)	rs80359035	0.00001
NM_000059.4(BRCA2):c.8798G>C (p.Arg2933Thr)	rs553440338	0.00001
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu)	rs80359159	0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)	rs28897759	0.00001
NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs)	rs730881619	0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)	rs142004418	0.00001
NM_000071.3(CBS):c.1007G>A (p.Arg336His)	rs760417941	0.00001
NM_000071.3(CBS):c.1109G>A (p.Cys370Tyr)	rs757920190	0.00001
NM_000071.3(CBS):c.1111G>A (p.Val371Met)	rs372010465	0.00001
NM_000071.3(CBS):c.1136G>A (p.Arg379Gln)	rs763036586	0.00001
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)	rs121964971	0.00001
NM_000071.3(CBS):c.373C>T (p.Arg125Trp)	rs886057100	0.00001
NM_000071.3(CBS):c.442G>A (p.Gly148Arg)	rs755952006	0.00001
NM_000071.3(CBS):c.797G>A (p.Arg266Lys)	rs121964969	0.00001
NM_000071.3(CBS):c.828+1G>A	rs763290176	0.00001
NM_000080.4(CHRNE):c.-96C>T	rs748144899	0.00001
NM_000080.4(CHRNE):c.1164del (p.Lys388fs)	rs1222065184	0.00001
NM_000080.4(CHRNE):c.1220-1G>A	rs373710822	0.00001
NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu)	rs121909514	0.00001
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter)	rs80338652	0.00001
NM_000093.5(COL5A1):c.2653A>G (p.Ile885Val)	rs781756159	0.00001
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser)	rs777625241	0.00001
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys)	rs74315296	0.00001
NM_000098.3(CPT2):c.341-2A>G	rs752468216	0.00001
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln)	rs515726177	0.00001
NM_000098.3(CPT2):c.481C>T (p.Arg161Trp)	rs756839691	0.00001
NM_000102.4(CYP17A1):c.1085G>A (p.Arg362His)	rs752811843	0.00001
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu)	rs121964988	0.00001
NM_000108.5(DLD):c.803_804del (p.Gln268fs)	rs764611160	0.00001
NM_000110.4(DPYD):c.61C>T (p.Arg21Ter)	rs72549310	0.00001
NM_000110.4(DPYD):c.632A>G (p.Tyr211Cys)	rs72549307	0.00001
NM_000110.4(DPYD):c.661G>T (p.Glu221Ter)	rs146170505	0.00001
NM_000110.4(DPYD):c.704G>A (p.Arg235Gln)	rs755416212	0.00001
NM_000112.4(SLC26A2):c.145del (p.Arg49fs)	rs1265764649	0.00001
NM_000126.4(ETFA):c.2T>C (p.Met1Thr)	rs727503918	0.00001
NM_000126.4(ETFA):c.470T>G (p.Val157Gly)	rs119458969	0.00001
NM_000126.4(ETFA):c.625del (p.Arg209fs)	rs1209473816	0.00001
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter)	rs1280130060	0.00001
NM_000135.4(FANCA):c.1226-2A>G	rs773906241	0.00001
NM_000135.4(FANCA):c.1776+1G>A	rs756140957	0.00001
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter)	rs1448463647	0.00001
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro)	rs1490352414	0.00001
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro)	rs1173704265	0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter)	rs752160950	0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro)	rs780825099	0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)	rs1302083447	0.00001
NM_000135.4(FANCA):c.2853-2A>C	rs947311062	0.00001
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs)	rs1374769712	0.00001
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys)	rs745665658	0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)	rs753700179	0.00001
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu)	rs182657062	0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)	rs745882980	0.00001
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter)	rs1384166265	0.00001
NM_000135.4(FANCA):c.597-1G>C	rs147945881	0.00001
NM_000135.4(FANCA):c.709+5G>A	rs759877008	0.00001
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter)	rs372163487	0.00001
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)	rs1291524243	0.00001
NM_000135.4(FANCA):c.894-2A>G	rs976556567	0.00001
NM_000135.4(FANCA):c.991del (p.Ser331fs)	rs746236214	0.00001
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter)	rs1410356625	0.00001
NM_000136.3(FANCC):c.1533+1G>C	rs753885687	0.00001
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter)	rs1057516291	0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)	rs121917784	0.00001
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter)	rs769039987	0.00001
NM_000136.3(FANCC):c.996+1G>T	rs370510954	0.00001
NM_000137.4(FAH):c.1025C>T (p.Pro342Leu)	rs779040832	0.00001
NM_000137.4(FAH):c.192G>T (p.Gln64His)	rs80338894	0.00001
NM_000137.4(FAH):c.438del (p.Asn146fs)	rs779642226	0.00001
NM_000137.4(FAH):c.742G>A (p.Gly248Arg)	rs774861939	0.00001
NM_000137.4(FAH):c.81+2T>A	rs772895065	0.00001
NM_000137.4(FAH):c.836A>G (p.Gln279Arg)	rs121965078	0.00001
NM_000137.4(FAH):c.963C>A (p.Tyr321Ter)	rs886044640	0.00001
NM_000143.4(FH):c.194A>G (p.Asp65Gly)	rs145116688	0.00001
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr)	rs104894568	0.00001
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter)	rs80356485	0.00001
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)	rs755253527	0.00001
NM_000152.5(GAA):c.1327-2A>G	rs1410829147	0.00001
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)	rs886043148	0.00001
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)	rs770276275	0.00001
NM_000152.5(GAA):c.1441del (p.Trp481fs)	rs1403500889	0.00001
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg)	rs770590394	0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr)	rs786204720	0.00001
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)	rs121907937	0.00001
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser)	rs773576381	0.00001
NM_000152.5(GAA):c.1626C>G (p.Pro542=)	rs947585663	0.00001
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr)	rs753505203	0.00001
NM_000152.5(GAA):c.1799G>A (p.Arg600His)	rs377544304	0.00001
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu)	rs374470794	0.00001
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)	rs1393386120	0.00001
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter)	rs786204727	0.00001
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg)	rs549029029	0.00001
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)	rs753269119	0.00001
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)	rs536906561	0.00001
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)	rs763456921	0.00001
NM_000152.5(GAA):c.1962_1964del (p.Glu656del)	rs1030961946	0.00001
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)	rs757111744	0.00001
NM_000152.5(GAA):c.2040+1G>T	rs1057516928	0.00001
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)	rs786204645	0.00001
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln)	rs577042191	0.00001
NM_000152.5(GAA):c.2482-2A>G	rs756671283	0.00001
NM_000152.5(GAA):c.2647-7G>A	rs192679574	0.00001
NM_000152.5(GAA):c.2706del (p.Lys903fs)	rs1428358278	0.00001
NM_000152.5(GAA):c.2846T>A (p.Val949Asp)	rs1245412108	0.00001
NM_000152.5(GAA):c.365del (p.Met122fs)	rs786204661	0.00001
NM_000152.5(GAA):c.670C>T (p.Arg224Trp)	rs757700700	0.00001
NM_000152.5(GAA):c.671G>A (p.Arg224Gln)	rs200210219	0.00001
NM_000152.5(GAA):c.692+5G>T	rs763027848	0.00001
NM_000152.5(GAA):c.871C>T (p.Leu291Phe)	rs773417785	0.00001
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)	rs1057516600	0.00001
NM_000153.4(GALC):c.583-6T>A	rs398123176	0.00001
NM_000153.4(GALC):c.673G>A (p.Ala225Thr)	rs1436074042	0.00001
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys)	rs1363497653	0.00001
NM_000154.2(GALK1):c.841G>A (p.Val281Met)	rs753571180	0.00001
NM_000154.2(GALK1):c.919_921del (p.Met307del)	rs1247635972	0.00001
NM_000155.4(GALT):c.1014C>G (p.Gly338=)	rs111033811	0.00001
NM_000155.4(GALT):c.1018G>A (p.Glu340Lys)	rs111033806	0.00001
NM_000155.4(GALT):c.1138T>C (p.Ter380Arg)	rs111033824	0.00001
NM_000155.4(GALT):c.199C>T (p.Arg67Cys)	rs111033658	0.00001
NM_000155.4(GALT):c.307C>T (p.Gln103Ter)	rs1225091358	0.00001
NM_000155.4(GALT):c.377+2dup	rs763662108	0.00001
NM_000155.4(GALT):c.379A>G (p.Lys127Glu)	rs111033682	0.00001
NM_000155.4(GALT):c.443G>A (p.Arg148Gln)	rs111033694	0.00001
NM_000155.4(GALT):c.601C>T (p.Arg201Cys)	rs111033739	0.00001
NM_000155.4(GALT):c.607G>A (p.Glu203Lys)	rs111033736	0.00001
NM_000155.4(GALT):c.610C>T (p.Arg204Ter)	rs111033737	0.00001
NM_000155.4(GALT):c.692G>A (p.Arg231His)	rs111033754	0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)	rs368166217	0.00001
NM_000155.4(GALT):c.775C>T (p.Arg259Trp)	rs786204763	0.00001
NM_000155.4(GALT):c.814C>T (p.Arg272Cys)	rs111033766	0.00001
NM_000155.4(GALT):c.821-7A>G	rs767337193	0.00001
NM_000155.4(GALT):c.883C>A (p.Pro295Thr)	rs111033783	0.00001
NM_000155.4(GALT):c.938G>A (p.Trp313Ter)	rs1410159094	0.00001
NM_000155.4(GALT):c.947G>A (p.Trp316Ter)	rs111033790	0.00001
NM_000155.4(GALT):c.958G>A (p.Ala320Thr)	rs111033795	0.00001
NM_000155.4(GALT):c.961C>T (p.His321Tyr)	rs367543266	0.00001
NM_000155.4(GALT):c.974C>T (p.Pro325Leu)	rs111033794	0.00001
NM_000155.4(GALT):c.982C>T (p.Arg328Cys)	rs144993986	0.00001
NM_000155.4(GALT):c.983G>A (p.Arg328His)	rs111033802	0.00001
NM_000155.4(GALT):c.998G>A (p.Arg333Gln)	rs111033808	0.00001
NM_000156.6(GAMT):c.224C>T (p.Ala75Val)	rs1441030187	0.00001
NM_000156.6(GAMT):c.407C>T (p.Thr136Met)	rs374724533	0.00001
NM_000158.4(GBE1):c.1064G>A (p.Arg355His)	rs869312919	0.00001
NM_000158.4(GBE1):c.1239del (p.Asp413fs)	rs758504480	0.00001
NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter)	rs781198373	0.00001
NM_000158.4(GBE1):c.1604A>G (p.Tyr535Cys)	rs886058900	0.00001
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp)	rs1703086906	0.00001
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)	rs552094593	0.00001
NM_000158.4(GBE1):c.1694G>A (p.Arg565Gln)	rs774619760	0.00001
NM_000158.4(GBE1):c.1803+2T>C	rs539203557	0.00001
NM_000158.4(GBE1):c.1823_1824del (p.His608fs)	rs1175447973	0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg)	rs137852891	0.00001
NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn)	rs1209123501	0.00001
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu)	rs137852887	0.00001
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys)	rs137852893	0.00001
NM_000158.4(GBE1):c.895G>T (p.Gly299Ter)	rs779475367	0.00001
NM_000158.4(GBE1):c.993-1G>T	rs763016962	0.00001
NM_000159.4(GCDH):c.1015A>G (p.Met339Val)	rs752234195	0.00001
NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser)	rs768925619	0.00001
NM_000159.4(GCDH):c.1199dup (p.Ile401fs)	rs1970722328	0.00001
NM_000159.4(GCDH):c.1213dup (p.Met405fs)	rs1377352983	0.00001
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met)	rs745360675	0.00001
NM_000159.4(GCDH):c.198del (p.Ile67fs)	rs1057517088	0.00001
NM_000159.4(GCDH):c.226C>T (p.Gln76Ter)	rs898043081	0.00001
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu)	rs886043840	0.00001
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln)	rs755586631	0.00001
NM_000159.4(GCDH):c.395G>A (p.Arg132Gln)	rs200639270	0.00001
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu)	rs139851890	0.00001
NM_000159.4(GCDH):c.479A>G (p.Gln160Arg)	rs1176799813	0.00001
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)	rs777201305	0.00001
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg)	rs749452002	0.00001
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu)	rs758503371	0.00001
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser)	rs751742575	0.00001
NM_000159.4(GCDH):c.852+5G>A	rs886054243	0.00001
NM_000159.4(GCDH):c.910G>A (p.Ala304Thr)	rs373203481	0.00001
NM_000159.4(GCDH):c.997C>T (p.Gln333Ter)	rs794726972	0.00001
NM_000170.3(GLDC):c.1078G>C (p.Val360Leu)	rs373482451	0.00001
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)	rs587779227	0.00001
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter)	rs1243779049	0.00001
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg)	rs200438844	0.00001
NM_000182.5(HADHA):c.315-1G>A	rs1458898996	0.00001
NM_000183.3(HADHB):c.1148C>T (p.Ser383Leu)	rs144711755	0.00001
NM_000183.3(HADHB):c.1165A>G (p.Asn389Asp)	rs1023807527	0.00001
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys)	rs780351691	0.00001
NM_000183.3(HADHB):c.254+1G>A	rs776172237	0.00001
NM_000183.3(HADHB):c.583C>T (p.Arg195Ter)	rs552292698	0.00001
NM_000183.3(HADHB):c.693_696dup (p.Ala233fs)	rs745646607	0.00001
NM_000183.3(HADHB):c.740G>A (p.Arg247His)	rs121913133	0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala)	rs460184	0.00001
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)	rs770225915	0.00001
NM_000191.3(HMGCL):c.497+4A>G	rs568718845	0.00001
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr)	rs760106433	0.00001
NM_000195.5(HPS1):c.1744-2A>C	rs281865088	0.00001
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)	rs104894640	0.00001
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser)	rs1555620214	0.00001
NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter)	rs1323958195	0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)	rs104894641	0.00001
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr)	rs1057521146	0.00001
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg)	rs774010006	0.00001
NM_000199.5(SGSH):c.416C>T (p.Thr139Met)	rs775112689	0.00001
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp)	rs1479831530	0.00001
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln)	rs104894638	0.00001
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys)	rs529855742	0.00001
NM_000199.5(SGSH):c.545G>A (p.Arg182His)	rs372911015	0.00001
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg)	rs753666460	0.00001
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter)	rs886041370	0.00001
NM_000199.5(SGSH):c.812C>T (p.Thr271Met)	rs746776254	0.00001
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu)	rs745884647	0.00001
NM_000216.4(ANOS1):c.1536G>A (p.Lys512=)	rs1449749900	0.00001
NM_000218.3(KCNQ1):c.683+5G>A	rs397508122	0.00001
NM_000231.3(SGCG):c.342dup (p.Ala115fs)	rs1262459682	0.00001
NM_000231.3(SGCG):c.559del (p.Asp187fs)	rs1484553312	0.00001
NM_000231.3(SGCG):c.579-2A>G	rs754415994	0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)	rs547818652	0.00001
NM_000232.5(SGCB):c.499G>A (p.Gly167Ser)	rs779516489	0.00001
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro)	rs751427686	0.00001
NM_000232.5(SGCB):c.601C>T (p.Gln201Ter)	rs773554421	0.00001
NM_000232.5(SGCB):c.621+1G>T	rs1264362642	0.00001
NM_000232.5(SGCB):c.622-2A>G	rs780596734	0.00001
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys)	rs190705322	0.00001
NM_000243.3(MEFV):c.443A>T (p.Glu148Val)	rs104895076	0.00001
NM_000249.4(MLH1):c.1202G>A (p.Ser401Asn)	rs587779951	0.00001
NM_000249.4(MLH1):c.1775G>C (p.Ser592Thr)	rs587782621	0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)	rs63751275	0.00001
NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys)	rs587778986	0.00001
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)	rs587778998	0.00001
NM_000249.4(MLH1):c.306+4A>G	rs267607733	0.00001
NM_000249.4(MLH1):c.682C>A (p.Leu228Met)	rs751628735	0.00001
NM_000249.4(MLH1):c.887T>C (p.Leu296Ser)	rs63750547	0.00001
NM_000251.3(MSH2):c.1171G>A (p.Ala391Thr)	rs878853798	0.00001
NM_000251.3(MSH2):c.1254A>G (p.Ile418Met)	rs751431238	0.00001
NM_000251.3(MSH2):c.1462T>G (p.Leu488Val)	rs587781314	0.00001
NM_000251.3(MSH2):c.1796T>C (p.Leu599Ser)	rs747504492	0.00001
NM_000251.3(MSH2):c.1804C>G (p.Leu602Val)	rs748797209	0.00001
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)	rs63750636	0.00001
NM_000251.3(MSH2):c.2437A>G (p.Met813Val)	rs63749841	0.00001
NM_000251.3(MSH2):c.5C>T (p.Ala2Val)	rs587778521	0.00001
NM_000251.3(MSH2):c.610G>A (p.Gly204Arg)	rs63750574	0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met)	rs121913627	0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)	rs145213771	0.00001
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)	rs753392652	0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)	rs104893750	0.00001
NM_000264.5(PTCH1):c.158C>T (p.Pro53Leu)	rs372546614	0.00001
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr)	rs1555636659	0.00001
NM_000271.5(NPC1):c.2848G>A (p.Val950Met)	rs120074135	0.00001
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys)	rs28942108	0.00001
NM_000271.5(NPC1):c.410C>T (p.Thr137Met)	rs372947142	0.00001
NM_000274.4(OAT):c.162C>A (p.Asn54Lys)	rs121965048	0.00001
NM_000274.4(OAT):c.416T>G (p.Met139Arg)	rs1043163922	0.00001
NM_000274.4(OAT):c.698A>G (p.Gln233Arg)	rs386833615	0.00001
NM_000274.4(OAT):c.722C>T (p.Pro241Leu)	rs121965051	0.00001
NM_000274.4(OAT):c.748C>T (p.Arg250Ter)	rs386833617	0.00001
NM_000274.4(OAT):c.796C>T (p.Gln266Ter)	rs1951458291	0.00001
NM_000274.4(OAT):c.800C>T (p.Thr267Ile)	rs386833618	0.00001
NM_000274.4(OAT):c.952G>A (p.Glu318Lys)	rs386833621	0.00001
NM_000274.4(OAT):c.991C>T (p.Arg331Ter)	rs386833623	0.00001
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val)	rs121918168	0.00001
NM_000275.3(OCA2):c.1045-9T>G	rs755604671	0.00001
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly)	rs147816326	0.00001
NM_000275.3(OCA2):c.2079G>A (p.Glu693=)	rs1374558186	0.00001
NM_000275.3(OCA2):c.2135del (p.Ile712fs)	rs775008954	0.00001
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr)	rs776814755	0.00001
NM_000275.3(OCA2):c.807+1G>T	rs763219039	0.00001
NM_000275.3(OCA2):c.868A>G (p.Arg290Gly)	rs769408559	0.00001
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser)	rs62516062	0.00001
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly)	rs62508736	0.00001
NM_000277.3(PAH):c.1199+17G>A	rs62508613	0.00001
NM_000277.3(PAH):c.1200-1G>A	rs62507322	0.00001
NM_000277.3(PAH):c.1330C>T (p.Leu444Phe)	rs1402168594	0.00001
NM_000277.3(PAH):c.212G>A (p.Arg71His)	rs62508695	0.00001
NM_000277.3(PAH):c.241A>C (p.Thr81Pro)	rs62509017	0.00001
NM_000277.3(PAH):c.320A>G (p.His107Arg)	rs542645236	0.00001
NM_000277.3(PAH):c.386A>G (p.Asp129Gly)	rs199475623	0.00001
NM_000277.3(PAH):c.442-5C>G	rs62514909	0.00001
NM_000277.3(PAH):c.442G>A (p.Gly148Ser)	rs80297647	0.00001
NM_000277.3(PAH):c.490A>G (p.Ile164Val)	rs199475647	0.00001
NM_000277.3(PAH):c.505C>T (p.Arg169Cys)	rs281865440	0.00001
NM_000277.3(PAH):c.520A>G (p.Ile174Val)	rs199475632	0.00001
NM_000277.3(PAH):c.545A>G (p.Glu182Gly)	rs199475617	0.00001
NM_000277.3(PAH):c.561G>A (p.Trp187Ter)	rs62507336	0.00001
NM_000277.3(PAH):c.665A>G (p.Asp222Gly)	rs62507319	0.00001
NM_000277.3(PAH):c.716G>T (p.Gly239Val)	rs62507283	0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)	rs62508588	0.00001
NM_000277.3(PAH):c.755G>A (p.Arg252Gln)	rs62644503	0.00001
NM_000277.3(PAH):c.776C>T (p.Ala259Val)	rs118203921	0.00001
NM_000277.3(PAH):c.789C>G (p.Phe263Leu)	rs62642944	0.00001
NM_000277.3(PAH):c.818C>T (p.Ser273Phe)	rs62514953	0.00001
NM_000277.3(PAH):c.835C>G (p.Pro279Ala)	rs1555204441	0.00001
NM_000277.3(PAH):c.842+3G>C	rs62507324	0.00001
NM_000277.3(PAH):c.889C>T (p.Arg297Cys)	rs62642945	0.00001
NM_000277.3(PAH):c.913-7A>G	rs62517165	0.00001
NM_000277.3(PAH):c.922C>T (p.Leu308Phe)	rs62642095	0.00001
NM_000277.3(PAH):c.926C>T (p.Ala309Val)	rs62642935	0.00001
NM_000277.3(PAH):c.932T>C (p.Leu311Pro)	rs62642936	0.00001
NM_000277.3(PAH):c.940C>A (p.Pro314Thr)	rs199475650	0.00001
NM_000277.3(PAH):c.968_970del (p.Thr323del)	rs199475618	0.00001
NM_000277.3(PAH):c.969+6T>A	rs62517196	0.00001
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys)	rs121964958	0.00001
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del)	rs937519016	0.00001
NM_000282.4(PCCA):c.1746G>A (p.Ser582=)	rs192171304	0.00001
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter)	rs1194679272	0.00001
NM_000282.4(PCCA):c.1997T>A (p.Met666Lys)	rs999241357	0.00001
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg)	rs771438170	0.00001
NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter)	rs1241896966	0.00001
NM_000282.4(PCCA):c.2119-9A>G	rs1389933015	0.00001
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln)	rs1387778734	0.00001
NM_000282.4(PCCA):c.231+1G>C	rs972937270	0.00001
NM_000282.4(PCCA):c.451G>T (p.Glu151Ter)	rs2053984648	0.00001
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys)	rs778530330	0.00001
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg)	rs1444049793	0.00001
NM_000284.4(PDHA1):c.292-23A>G	rs1057518702	0.00001
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter)	rs760739894	0.00001
NM_000286.3(PEX12):c.211C>T (p.Gln71Ter)	rs767447750	0.00001
NM_000286.3(PEX12):c.331C>T (p.Gln111Ter)	rs1056238409	0.00001
NM_000286.3(PEX12):c.680+1G>A	rs904972651	0.00001
NM_000287.4(PEX6):c.1287del (p.Trp430fs)	rs1258472160	0.00001
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp)	rs61753225	0.00001
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp)	rs267608239	0.00001
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter)	rs1010184002	0.00001
NM_000288.4(PEX7):c.188+1G>C	rs267608254	0.00001
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)	rs187131358	0.00001
NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter)	rs41291965	0.00001
NM_000289.6(PFKM):c.1500+1G>A	rs770066278	0.00001
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter)	rs199422211	0.00001
NM_000295.5(SERPINA1):c.646+1G>T	rs751235320	0.00001
NM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg)	rs764220898	0.00001
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg)	rs755402538	0.00001
NM_000303.3(PMM2):c.178G>T (p.Val60Leu)	rs759513930	0.00001
NM_000303.3(PMM2):c.284del (p.Leu95fs)	rs757865122	0.00001
NM_000303.3(PMM2):c.323C>T (p.Ala108Val)	rs200503569	0.00001
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg)	rs767831048	0.00001
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr)	rs150577656	0.00001
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser)	rs760265100	0.00001
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser)	rs532870929	0.00001
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala)	rs398123309	0.00001
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser)	rs78290141	0.00001
NM_000303.3(PMM2):c.66+1G>T	rs937726878	0.00001
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter)	rs149530060	0.00001
NM_000310.4(PPT1):c.124+1G>A	rs386833628	0.00001
NM_000310.4(PPT1):c.325T>G (p.Tyr109Asp)	rs386833642	0.00001
NM_000310.4(PPT1):c.424C>T (p.Gln142Ter)	rs796052925	0.00001
NM_000310.4(PPT1):c.490C>T (p.Arg164Ter)	rs386833649	0.00001
NM_000310.4(PPT1):c.550G>A (p.Glu184Lys)	rs386833655	0.00001
NM_000310.4(PPT1):c.628-1G>T	rs386833659	0.00001
NM_000310.4(PPT1):c.665T>C (p.Leu222Pro)	rs386833661	0.00001
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu)	rs746043871	0.00001
NM_000310.4(PPT1):c.739T>C (p.Tyr247His)	rs386833665	0.00001
NM_000317.3(PTS):c.155A>G (p.Asn52Ser)	rs104894275	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_000317.3(PTS):c.367C>T (p.Pro123Ser)	rs141163668	0.00001
NM_000317.3(PTS):c.46C>T (p.Arg16Cys)	rs104894274	0.00001
NM_000317.3(PTS):c.78G>T (p.Leu26Phe)	rs1317230624	0.00001
NM_000318.3(PEX2):c.-17-2A>G	rs1289852067	0.00001
NM_000318.3(PEX2):c.157G>T (p.Glu53Ter)	rs1224562361	0.00001
NM_000321.3(RB1):c.-149G>T	rs1014776340	0.00001
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)	rs61752883	0.00001
NM_000330.4(RS1):c.544C>T (p.Arg182Cys)	rs61753171	0.00001
NM_000338.3(SLC12A1):c.1316G>A (p.Arg439Gln)	rs780619649	0.00001
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His)	rs201799893	0.00001
NM_000353.3(TAT):c.1297C>T (p.Arg433Trp)	rs761817519	0.00001
NM_000353.3(TAT):c.1298G>A (p.Arg433Gln)	rs775488556	0.00001
NM_000353.3(TAT):c.355C>T (p.Arg119Trp)	rs758306831	0.00001
NM_000353.3(TAT):c.889C>T (p.Arg297Ter)	rs758491525	0.00001
NM_000353.3(TAT):c.916C>T (p.Arg306Ter)	rs1316166172	0.00001
NM_000359.3(TGM1):c.1075G>A (p.Val359Met)	rs202037016	0.00001
NM_000359.3(TGM1):c.1417G>A (p.Gly473Ser)	rs904122716	0.00001
NM_000359.3(TGM1):c.1645+1G>T	rs774242987	0.00001
NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter)	rs397514522	0.00001
NM_000359.3(TGM1):c.2059C>T (p.Arg687Cys)	rs147516124	0.00001
NM_000359.3(TGM1):c.2290C>T (p.Arg764Cys)	rs201853046	0.00001
NM_000359.3(TGM1):c.379C>T (p.Arg127Ter)	rs886041250	0.00001
NM_000359.3(TGM1):c.401A>G (p.Tyr134Cys)	rs147916609	0.00001
NM_000359.3(TGM1):c.424C>T (p.Arg142Cys)	rs121918716	0.00001
NM_000359.3(TGM1):c.428G>A (p.Arg143His)	rs121918719	0.00001
NM_000359.3(TGM1):c.430G>A (p.Gly144Arg)	rs778635368	0.00001
NM_000359.3(TGM1):c.579G>A (p.Trp193Ter)	rs199678720	0.00001
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser)	rs121918732	0.00001
NM_000359.3(TGM1):c.790C>T (p.Arg264Trp)	rs201868387	0.00001
NM_000359.3(TGM1):c.791G>A (p.Arg264Gln)	rs781006633	0.00001
NM_000359.3(TGM1):c.871G>A (p.Gly291Ser)	rs1437822062	0.00001
NM_000359.3(TGM1):c.872G>A (p.Gly291Asp)	rs780990272	0.00001
NM_000359.3(TGM1):c.943C>T (p.Arg315Cys)	rs397514525	0.00001
NM_000360.4(TH):c.1141C>A (p.Gln381Lys)	rs121917762	0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro)	rs121917763	0.00001
NM_000360.4(TH):c.646G>A (p.Gly216Ser)	rs762304556	0.00001
NM_000368.5(TSC1):c.2369A>G (p.Tyr790Cys)	rs749111647	0.00001
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp)	rs397515522	0.00001
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys)	rs397515524	0.00001
NM_000372.5(TYR):c.1036+1G>A	rs763715899	0.00001
NM_000372.5(TYR):c.1106A>G (p.Tyr369Cys)	rs149912348	0.00001
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser)	rs104894316	0.00001
NM_000372.5(TYR):c.1346A>G (p.Tyr449Cys)	rs1944765423	0.00001
NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly)	rs61753187	0.00001
NM_000372.5(TYR):c.290G>T (p.Gly97Val)	rs1320376090	0.00001
NM_000372.5(TYR):c.880G>A (p.Glu294Lys)	rs757754120	0.00001
NM_000387.6(SLC25A20):c.533G>A (p.Arg178Gln)	rs754563147	0.00001
NM_000387.6(SLC25A20):c.536A>G (p.Asp179Gly)	rs1205051168	0.00001
NM_000387.6(SLC25A20):c.824G>A (p.Arg275Gln)	rs376342597	0.00001
NM_000396.4(CTSK):c.136C>T (p.Arg46Trp)	rs371277428	0.00001
NM_000396.4(CTSK):c.926T>C (p.Leu309Pro)	rs29001685	0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)	rs76645461	0.00001
NM_000402.4(G6PD):c.607T>C (p.Phe203Leu)	rs137852343	0.00001
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys)	rs766199971	0.00001
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr)	rs587777443	0.00001
NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter)	rs771510541	0.00001
NM_000414.4(HSD17B4):c.280+2T>C	rs770772281	0.00001
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys)	rs969485098	0.00001
NM_000426.4(LAMA2):c.2176T>C (p.Cys726Arg)	rs920771326	0.00001
NM_000426.4(LAMA2):c.2749+2dup	rs759144210	0.00001
NM_000426.4(LAMA2):c.3556-13T>A	rs775278003	0.00001
NM_000426.4(LAMA2):c.396+1G>T	rs770617208	0.00001
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter)	rs200923373	0.00001
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter)	rs398123378	0.00001
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter)	rs398123383	0.00001
NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter)	rs762806915	0.00001
NM_000436.4(OXCT1):c.1402C>T (p.Arg468Cys)	rs1327401976	0.00001
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)	rs786204474	0.00001
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter)	rs397516416	0.00001
NM_000441.2(SLC26A4):c.1615-2A>G	rs758823761	0.00001
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr)	rs111033257	0.00001
NM_000441.2(SLC26A4):c.1707+5G>A	rs192366176	0.00001
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)	rs200455203	0.00001
NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu)	rs749013429	0.00001
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser)	rs1060499808	0.00001
NM_000441.2(SLC26A4):c.2319+1G>A	rs542079779	0.00001
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val)	rs760413427	0.00001
NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr)	rs1205712508	0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)	rs111033348	0.00001
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg)	rs539699299	0.00001
NM_000441.2(SLC26A4):c.918+2T>C	rs912147281	0.00001
NM_000465.4(BARD1):c.1205C>A (p.Ser402Ter)	rs796666047	0.00001
NM_000465.4(BARD1):c.1718T>C (p.Ile573Thr)	rs587780022	0.00001
NM_000465.4(BARD1):c.2129A>T (p.Asp710Val)	rs150121935	0.00001
NM_000466.3(PEX1):c.2071+1G>T	rs267608177	0.00001
NM_000466.3(PEX1):c.2636T>C (p.Leu879Ser)	rs1362906637	0.00001
NM_000466.3(PEX1):c.3208-1G>A	rs1057517518	0.00001
NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys)	rs371243939	0.00001
NM_000478.6(ALPL):c.1182dup (p.Ile395fs)	rs754826836	0.00001
NM_000478.6(ALPL):c.1183A>G (p.Ile395Val)	rs772682471	0.00001
NM_000478.6(ALPL):c.119C>T (p.Ala40Val)	rs770093969	0.00001
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val)	rs766656419	0.00001
NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg)	rs1413274209	0.00001
NM_000478.6(ALPL):c.283G>A (p.Val95Met)	rs139811782	0.00001
NM_000478.6(ALPL):c.350A>G (p.Tyr117Cys)	rs1374504617	0.00001
NM_000478.6(ALPL):c.535G>A (p.Ala179Thr)	rs121918000	0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu)	rs199590449	0.00001
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)	rs763159520	0.00001
NM_000478.6(ALPL):c.668G>A (p.Arg223Gln)	rs199665722	0.00001
NM_000478.6(ALPL):c.809G>A (p.Trp270Ter)	rs786204634	0.00001
NM_000478.6(ALPL):c.98C>T (p.Ala33Val)	rs121918005	0.00001
NM_000478.6(ALPL):c.997+1G>T	rs1292415045	0.00001
NM_000478.6(ALPL):c.997+2T>A	rs1057517391	0.00001
NM_000481.4(AMT):c.139G>A (p.Gly47Arg)	rs121964982	0.00001
NM_000481.4(AMT):c.212A>C (p.His71Pro)	rs1053797603	0.00001
NM_000481.4(AMT):c.350C>T (p.Ser117Leu)	rs769468125	0.00001
NM_000481.4(AMT):c.496C>T (p.Gln166Ter)	rs558998633	0.00001
NM_000481.4(AMT):c.664C>T (p.Arg222Cys)	rs781466698	0.00001
NM_000481.4(AMT):c.793C>T (p.Arg265Cys)	rs779483959	0.00001
NM_000481.4(AMT):c.826G>C (p.Asp276His)	rs121964984	0.00001
NM_000481.4(AMT):c.889C>T (p.Arg297Ter)	rs766422988	0.00001
NM_000487.6(ARSA):c.979+8C>T	rs746862304	0.00001
NM_000492.4(CFTR):c.1721C>A (p.Pro574His)	rs121908758	0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)	rs397508464	0.00001
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter)	rs121909043	0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)	rs397508783	0.00001
NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln)	rs764598023	0.00001
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser)	rs104894069	0.00001
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter)	rs267606755	0.00001
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp)	rs779103938	0.00001
NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile)	rs1489638195	0.00001
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln)	rs267601810	0.00001
NM_000497.4(CYP11B1):c.427C>T (p.Arg143Trp)	rs140336749	0.00001
NM_000497.4(CYP11B1):c.896T>C (p.Leu299Pro)	rs387907573	0.00001
NM_000497.4(CYP11B1):c.917C>T (p.Ala306Val)	rs387907572	0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr)	rs786204721	0.00001
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg)	rs104894248	0.00001
NM_000527.5(LDLR):c.313+2T>C	rs793888517	0.00001
NM_000528.4(MAN2B1):c.1117A>T (p.Lys373Ter)	rs778554304	0.00001
NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val)	rs772853856	0.00001
NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys)	rs368899357	0.00001
NM_000528.4(MAN2B1):c.1528-1G>A	rs561991886	0.00001
NM_000528.4(MAN2B1):c.1645-1G>A	rs938576591	0.00001
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter)	rs1057516927	0.00001
NM_000528.4(MAN2B1):c.222C>A (p.Asp74Glu)	rs746702002	0.00001
NM_000528.4(MAN2B1):c.2436+2T>C	rs398123457	0.00001
NM_000528.4(MAN2B1):c.422del (p.Asp141fs)	rs778399351	0.00001
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn)	rs772108001	0.00001
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp)	rs763257568	0.00001
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu)	rs746808159	0.00001
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys)	rs772562587	0.00001
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys)	rs72558495	0.00001
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val)	rs751538672	0.00001
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser)	rs1349202366	0.00001
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys)	rs769521436	0.00001
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro)	rs202247822	0.00001
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter)	rs753981900	0.00001
NM_000532.5(PCCB):c.371del (p.Gln124fs)	rs1481849460	0.00001
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp)	rs754752068	0.00001
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp)	rs879253815	0.00001
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln)	rs1304714042	0.00001
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)	rs121964960	0.00001
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser)	rs756414710	0.00001
NM_000532.5(PCCB):c.814C>T (p.Arg272Trp)	rs375999824	0.00001
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)	rs572246667	0.00001
NM_000535.7(PMS2):c.1144+1G>A	rs373885654	0.00001
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)	rs587778617	0.00001
NM_000535.7(PMS2):c.2174+1G>A	rs267608172	0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)	rs587779337	0.00001
NM_000535.7(PMS2):c.251-2A>T	rs587779340	0.00001
NM_000535.7(PMS2):c.506G>A (p.Arg169His)	rs730881917	0.00001
NM_000535.7(PMS2):c.538-1G>C	rs988423880	0.00001
NM_000535.7(PMS2):c.538-2A>G	rs758304323	0.00001
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)	rs587779342	0.00001
NM_000535.7(PMS2):c.713G>A (p.Ser238Asn)	rs1060503111	0.00001
NM_000535.7(PMS2):c.804-2A>G	rs1307026290	0.00001
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly)	rs587782852	0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)	rs118192130	0.00001
NM_000540.3(RYR1):c.7036G>A (p.Val2346Met)	rs193922799	0.00001
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)	rs118192122	0.00001
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg)	rs794727629	0.00001
NM_000543.5(SMPD1):c.1341-1G>A	rs1057516854	0.00001
NM_000543.5(SMPD1):c.1343A>G (p.Tyr448Cys)	rs747143343	0.00001
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val)	rs748589919	0.00001
NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser)	rs120074119	0.00001
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His)	rs370129081	0.00001
NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter)	rs868423827	0.00001
NM_000543.5(SMPD1):c.502G>A (p.Gly168Arg)	rs1847910654	0.00001
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro)	rs764317969	0.00001
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys)	rs989639224	0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys)	rs200763423	0.00001
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg)	rs750779804	0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His)	rs121912664	0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	rs28934574	0.00001
NM_000548.5(TSC2):c.2882C>T (p.Pro961Leu)	rs370415754	0.00001
NM_000548.5(TSC2):c.3193A>C (p.Lys1065Gln)	rs751955670	0.00001
NM_000548.5(TSC2):c.3293C>T (p.Pro1098Leu)	rs773545852	0.00001
NM_000548.5(TSC2):c.3538A>G (p.Lys1180Glu)	rs751708490	0.00001
NM_000548.5(TSC2):c.4330C>G (p.Pro1444Ala)	rs1459518095	0.00001
NM_000548.5(TSC2):c.743A>G (p.Asn248Ser)	rs762104739	0.00001
NM_000551.4(VHL):c.548C>T (p.Ser183Leu)	rs5030823	0.00001
NM_000553.6(WRN):c.3042G>A (p.Trp1014Ter)	rs371720457	0.00001
NM_000553.6(WRN):c.3384-1G>A	rs776963381	0.00001
NM_000553.6(WRN):c.3460-1G>A	rs1802899166	0.00001
NM_000553.6(WRN):c.3724C>T (p.Gln1242Ter)	rs762379051	0.00001
NM_000553.6(WRN):c.673C>T (p.Arg225Ter)	rs370324188	0.00001
NM_000553.6(WRN):c.88G>T (p.Glu30Ter)	rs1198210848	0.00001
NM_000642.3(AGL):c.100C>T (p.Arg34Ter)	rs781580050	0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)	rs763554006	0.00001
NM_000642.3(AGL):c.1735+1G>T	rs199922945	0.00001
NM_000642.3(AGL):c.2023C>T (p.Arg675Trp)	rs765749454	0.00001
NM_000642.3(AGL):c.22C>T (p.Arg8Ter)	rs1057516870	0.00001
NM_000642.3(AGL):c.2309-1G>A	rs786204481	0.00001
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg)	rs772347559	0.00001
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)	rs531425980	0.00001
NM_000642.3(AGL):c.3350dup (p.Tyr1117Ter)	rs1432024176	0.00001
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter)	rs113994131	0.00001
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys)	rs775685508	0.00001
NM_000642.3(AGL):c.664+3A>G	rs370792293	0.00001
NM_000642.3(AGL):c.685C>T (p.Gln229Ter)	rs971749992	0.00001
NM_000642.3(AGL):c.907C>T (p.Gln303Ter)	rs145362161	0.00001
NM_000642.3(AGL):c.94C>T (p.Gln32Ter)	rs786204489	0.00001
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys)	rs182923857	0.00001
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His)	rs398123486	0.00001
NM_000709.4(BCKDHA):c.1061G>A (p.Trp354Ter)	rs1214763792	0.00001
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)	rs398123490	0.00001
NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter)	rs374625613	0.00001
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met)	rs398123503	0.00001
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val)	rs369448982	0.00001
NM_000709.4(BCKDHA):c.745G>A (p.Gly249Ser)	rs137852874	0.00001
NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr)	rs199599175	0.00001
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp)	rs137852873	0.00001
NM_000709.4(BCKDHA):c.854-2A>G	rs760494152	0.00001
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg)	rs137852871	0.00001
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys)	rs398123515	0.00001
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)	rs573951598	0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)	rs121908099	0.00001
NM_000784.4(CYP27A1):c.1263+5G>T	rs587778784	0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)	rs200883871	0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)	rs121908098	0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)	rs560108684	0.00001
NM_000784.4(CYP27A1):c.32G>A (p.Trp11Ter)	rs1398584213	0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)	rs72551312	0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)	rs587778796	0.00001
NM_000784.4(CYP27A1):c.446+1G>A	rs587778797	0.00001
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter)	rs72551314	0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)	rs201346271	0.00001
NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter)	rs72551315	0.00001
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg)	rs72551317	0.00001
NM_001002755.4(NFU1):c.545G>A (p.Arg182Gln)	rs1281276965	0.00001
NM_001005498.4(RHBDF2):c.1375C>G (p.Leu459Val)	rs147599098	0.00001
NM_001008216.2(GALE):c.449C>T (p.Thr150Met)	rs765353795	0.00001
NM_001018115.3(FANCD2):c.1370T>C (p.Leu457Pro)	rs1181436417	0.00001
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His)	rs121917786	0.00001
NM_001018115.3(FANCD2):c.491+1G>A	rs943009372	0.00001
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met)	rs778289599	0.00001
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp)	rs121917787	0.00001
NM_001040716.2(PC):c.806G>A (p.Arg269Gln)	rs1349343839	0.00001
NM_001042432.2(CLN3):c.125+5G>A	rs386833704	0.00001
NM_001042432.2(CLN3):c.214C>T (p.Gln72Ter)	rs386833709	0.00001
NM_001042432.2(CLN3):c.622dup (p.Ser208fs)	rs386833736	0.00001
NM_001048174.2(MUTYH):c.1103-2A>G	rs587781628	0.00001
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs)	rs587780086	0.00001
NM_001048174.2(MUTYH):c.164C>G (p.Ser55Ter)	rs370124822	0.00001
NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln)	rs755653922	0.00001
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu)	rs777184451	0.00001
NM_001048174.2(MUTYH):c.421-12T>G	rs890418965	0.00001
NM_001048174.2(MUTYH):c.559G>A (p.Val187Met)	rs776487884	0.00001
NM_001048174.2(MUTYH):c.563G>A (p.Gly188Glu)	rs768553551	0.00001
NM_001048174.2(MUTYH):c.604C>T (p.Gln202Ter)	rs1064796630	0.00001
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp)	rs769237459	0.00001
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu)	rs730881833	0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu)	rs374950566	0.00001
NM_001048174.2(MUTYH):c.835C>T (p.Arg279Trp)	rs759822330	0.00001
NM_001048174.2(MUTYH):c.887C>T (p.Ser296Leu)	rs558173961	0.00001
NM_001080397.3(SLC45A1):c.526C>T (p.Arg176Trp)	rs781036625	0.00001
NM_001080476.3(GRXCR1):c.469G>T (p.Glu157Ter)	rs774844858	0.00001
NM_001100.4(ACTA1):c.990+1G>T	rs372686280	0.00001
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg)	rs186882839	0.00001
NM_001110556.2(FLNA):c.1349T>C (p.Met450Thr)	rs1360400826	0.00001
NM_001110556.2(FLNA):c.3886C>T (p.Arg1296Cys)	rs781816229	0.00001
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg)	rs797045044	0.00001
NM_001110792.2(MECP2):c.515C>G (p.Thr172Ser)	rs61748414	0.00001
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter)	rs375656231	0.00001
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter)	rs748000458	0.00001
NM_001113378.2(FANCI):c.3006+3A>G	rs1294973649	0.00001
NM_001122769.3(LCA5):c.1756A>T (p.Lys586Ter)	rs772573829	0.00001
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter)	rs1393804220	0.00001
NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp)	rs397514526	0.00001
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter)	rs1471994744	0.00001
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter)	rs930421180	0.00001
NM_001142800.2(EYS):c.4651G>T (p.Glu1551Ter)	rs1305702728	0.00001
NM_001142800.2(EYS):c.5644+5G>A	rs794727412	0.00001
NM_001142800.2(EYS):c.6191+1G>A	rs1048032321	0.00001
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter)	rs797045089	0.00001
NM_001142800.2(EYS):c.6571+1G>A	rs1193854376	0.00001
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter)	rs1060499783	0.00001
NM_001142800.2(EYS):c.8168del (p.Gln2723fs)	rs1168101857	0.00001
NM_001142800.2(EYS):c.9059T>C (p.Ile3020Thr)	rs948998853	0.00001
NM_001142800.2(EYS):c.9061G>C (p.Ala3021Pro)	rs569561277	0.00001
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter)	rs121908976	0.00001
NM_001164277.2(SLC37A4):c.381+2T>G	rs782645078	0.00001
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)	rs193302883	0.00001
NM_001164277.2(SLC37A4):c.458C>T (p.Pro153Leu)	rs193302890	0.00001
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter)	rs551439289	0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)	rs121908978	0.00001
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys)	rs193302880	0.00001
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly)	rs1255744452	0.00001
NM_001164508.2(NEB):c.22906-6C>T	rs1449487575	0.00001
NM_001164508.2(NEB):c.6020T>C (p.Met2007Thr)	rs199862790	0.00001
NM_001164508.2(NEB):c.7228-1G>A	rs1057516996	0.00001
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)	rs779526456	0.00001
NM_001243279.3(ACSF3):c.1300C>T (p.Arg434Ter)	rs766764090	0.00001
NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter)	rs1243213118	0.00001
NM_001243279.3(ACSF3):c.1329dup (p.Lys444Ter)	rs776995095	0.00001
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter)	rs748382994	0.00001
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)	rs387907119	0.00001
NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter)	rs1025201214	0.00001
NM_001243279.3(ACSF3):c.1613+1G>A	rs770400253	0.00001
NM_001243279.3(ACSF3):c.305del (p.Cys102fs)	rs760759040	0.00001
NM_001243279.3(ACSF3):c.408T>A (p.Tyr136Ter)	rs1313088429	0.00001
NM_001243279.3(ACSF3):c.817C>T (p.Gln273Ter)	rs749538361	0.00001
NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter)	rs759338401	0.00001
NM_001243279.3(ACSF3):c.866del (p.Val289fs)	rs758740850	0.00001
NM_001253852.3(AP4B1):c.1540C>T (p.Arg514Ter)	rs767220480	0.00001
NM_001256545.2(MEGF10):c.3166C>T (p.Arg1056Ter)	rs989552169	0.00001
NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr)	rs535008556	0.00001
NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro)	rs201989042	0.00001
NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter)	rs1554222130	0.00001
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile)	rs370343781	0.00001
NM_001291867.2(NHS):c.822G>A (p.Arg274=)	rs1192420369	0.00001
NM_001323289.2(CDKL5):c.1676G>A (p.Arg559Gln)	rs1926294168	0.00001
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)	rs28934602	0.00001
NM_001352514.2(HLCS):c.2451-1G>A	rs1158898827	0.00001
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu)	rs1260631800	0.00001
NM_001358530.2(MOCS1):c.1102+2T>C	rs1345407391	0.00001
NM_001358530.2(MOCS1):c.1150+20G>A	rs752653792	0.00001
NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys)	rs751603831	0.00001
NM_001358530.2(MOCS1):c.956G>A (p.Arg319Gln)	rs104893969	0.00001
NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr)	rs779709646	0.00001
NM_001360.3(DHCR7):c.1219A>T (p.Asn407Tyr)	rs770819693	0.00001
NM_001360.3(DHCR7):c.1222T>C (p.Tyr408His)	rs1046560765	0.00001
NM_001360.3(DHCR7):c.1396G>A (p.Val466Met)	rs760428437	0.00001
NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter)	rs104886039	0.00001
NM_001360.3(DHCR7):c.326T>C (p.Leu109Pro)	rs121912195	0.00001
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro)	rs753960624	0.00001
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu)	rs80338855	0.00001
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp)	rs779896782	0.00001
NM_001360.3(DHCR7):c.841G>A (p.Val281Met)	rs398123607	0.00001
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile)	rs121909765	0.00001
NM_001365088.1(SLC12A6):c.2043-2A>G	rs1372841592	0.00001
NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter)	rs1057516262	0.00001
NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys)	rs121908429	0.00001
NM_001367561.1(DOCK7):c.1142A>G (p.Lys381Arg)	rs148287864	0.00001
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His)	rs587777395	0.00001
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter)	rs761622153	0.00001
NM_001370259.2(MEN1):c.1580G>A (p.Arg527Gln)	rs1085307502	0.00001
NM_001370259.2(MEN1):c.329G>A (p.Gly110Glu)	rs1389398299	0.00001
NM_001370259.2(MEN1):c.655-5C>G	rs752563214	0.00001
NM_001370658.1(BTD):c.-17+2T>C	rs745648160	0.00001
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser)	rs397514410	0.00001
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)	rs397514412	0.00001
NM_001370658.1(BTD):c.124G>A (p.Val42Met)	rs397507170	0.00001
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val)	rs397514402	0.00001
NM_001370658.1(BTD):c.1324del (p.Arg442fs)	rs397514420	0.00001
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val)	rs771537277	0.00001
NM_001370658.1(BTD):c.1553G>A (p.Arg518His)	rs397514429	0.00001
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)	rs104893687	0.00001
NM_001370658.1(BTD):c.176G>A (p.Arg59His)	rs397514343	0.00001
NM_001370658.1(BTD):c.197T>G (p.Met66Arg)	rs587783002	0.00001
NM_001370658.1(BTD):c.250-15del	rs587783008	0.00001
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)	rs375712490	0.00001
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu)	rs575787457	0.00001
NM_001370658.1(BTD):c.360G>A (p.Trp120Ter)	rs1306944669	0.00001
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)	rs397514363	0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)	rs119103232	0.00001
NM_001370658.1(BTD):c.425C>T (p.Ala142Val)	rs397514364	0.00001
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)	rs372844636	0.00001
NM_001370658.1(BTD):c.572G>A (p.Arg191His)	rs112195009	0.00001
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr)	rs397514381	0.00001
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)	rs397507175	0.00001
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)	rs397514382	0.00001
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)	rs397514384	0.00001
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly)	rs397514387	0.00001
NM_001370658.1(BTD):c.941_942del (p.Ile314fs)	rs749162799	0.00001
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu)	rs267607235	0.00001
NM_001376.5(DYNC1H1):c.12514-5A>G	rs774476953	0.00001
NM_001377.3(DYNC2H1):c.7985G>A (p.Arg2662Gln)	rs397514635	0.00001
NM_001378120.1(MBD5):c.2688C>T (p.His896=)	rs1681222021	0.00001
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter)	rs386833763	0.00001
NM_001458.5(FLNC):c.3791-1G>C	rs781135153	0.00001
NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter)	rs760791287	0.00001
NM_001609.4(ACADSB):c.303+3A>G	rs1345480688	0.00001
NM_001625.4(AK2):c.202A>G (p.Met68Val)	rs548856916	0.00001
NM_001876.4(CPT1A):c.1027T>G (p.Phe343Val)	rs80356783	0.00001
NM_001876.4(CPT1A):c.1792C>T (p.Arg598Ter)	rs773153659	0.00001
NM_001876.4(CPT1A):c.589G>T (p.Glu197Ter)	rs1211665230	0.00001
NM_001876.4(CPT1A):c.727C>T (p.Arg243Ter)	rs779893091	0.00001
NM_001918.5(DBT):c.1017G>A (p.Lys339=)	rs1490661508	0.00001
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr)	rs1449113689	0.00001
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter)	rs398123660	0.00001
NM_001918.5(DBT):c.1430T>G (p.Met477Arg)	rs398123662	0.00001
NM_001918.5(DBT):c.52-1G>A	rs755914063	0.00001
NM_001953.5(TYMP):c.1300+1G>A	rs1064792878	0.00001
NM_001953.5(TYMP):c.340G>A (p.Asp114Asn)	rs1064792861	0.00001
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro)	rs121913042	0.00001
NM_001985.3(ETFB):c.490C>T (p.Arg164Trp)	rs148045813	0.00001
NM_001985.3(ETFB):c.571C>T (p.Arg191Cys)	rs772976948	0.00001
NM_002225.5(IVD):c.1112T>C (p.Val371Ala)	rs754600862	0.00001
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)	rs1477527791	0.00001
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys)	rs773560012	0.00001
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp)	rs1237032588	0.00001
NM_002225.5(IVD):c.149G>A (p.Arg50His)	rs2229311	0.00001
NM_002225.5(IVD):c.232C>T (p.Arg78Ter)	rs765815516	0.00001
NM_002225.5(IVD):c.349C>T (p.Arg117Ter)	rs776015412	0.00001
NM_002225.5(IVD):c.381del (p.Ala128fs)	rs769048174	0.00001
NM_002225.5(IVD):c.397_398del (p.Cys133fs)	rs398123682	0.00001
NM_002225.5(IVD):c.456+2T>C	rs398123683	0.00001
NM_002225.5(IVD):c.498del (p.Glu166fs)	rs398123684	0.00001
NM_002225.5(IVD):c.784+1G>A	rs763471771	0.00001
NM_002225.5(IVD):c.890C>T (p.Ala297Val)	rs796051983	0.00001
NM_002435.3(MPI):c.1253G>A (p.Arg418His)	rs863225087	0.00001
NM_002435.3(MPI):c.13C>T (p.Arg5Ter)	rs1452559752	0.00001
NM_002435.3(MPI):c.166C>T (p.Arg56Ter)	rs757168691	0.00001
NM_002435.3(MPI):c.251C>G (p.Ser84Ter)	rs978284448	0.00001
NM_002435.3(MPI):c.488-1G>C	rs759579169	0.00001
NM_002435.3(MPI):c.718C>T (p.Gln240Ter)	rs776340315	0.00001
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)	rs140992482	0.00001
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)	rs1057516320	0.00001
NM_002528.7(NTHL1):c.256C>T (p.Gln86Ter)	rs2084372140	0.00001
NM_002528.7(NTHL1):c.433C>T (p.Arg145Ter)	rs374489979	0.00001
NM_002528.7(NTHL1):c.472C>T (p.Gln158Ter)	rs1198246754	0.00001
NM_002617.4(PEX10):c.913-2A>C	rs758250423	0.00001
NM_002693.3(POLG):c.1283T>C (p.Leu428Pro)	rs774610098	0.00001
NM_002693.3(POLG):c.1433+2T>C	rs920850257	0.00001
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln)	rs764287987	0.00001
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln)	rs140079523	0.00001
NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg)	rs761649878	0.00001
NM_002693.3(POLG):c.3406G>A (p.Glu1136Lys)	rs56047213	0.00001
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu)	rs776031396	0.00001
NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter)	rs781256643	0.00001
NM_002693.3(POLG):c.915C>G (p.Ser305Arg)	rs769410130	0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	rs121918459	0.00001
NM_002860.4(ALDH18A1):c.2293C>T (p.Arg765Ter)	rs1462559161	0.00001
NM_002878.4(RAD51D):c.619T>C (p.Ser207Pro)	rs372365287	0.00001
NM_002878.4(RAD51D):c.803G>A (p.Trp268Ter)	rs750219200	0.00001
NM_002878.4(RAD51D):c.80C>A (p.Thr27Lys)	rs139642328	0.00001
NM_003001.5(SDHC):c.380A>G (p.His127Arg)	rs786203457	0.00001
NM_003060.4(SLC22A5):c.1006C>T (p.Arg336Ter)	rs754008420	0.00001
NM_003060.4(SLC22A5):c.1072T>A (p.Tyr358Asn)	rs61731073	0.00001
NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val)	rs746187344	0.00001
NM_003060.4(SLC22A5):c.1250dup (p.Met417fs)	rs781330134	0.00001
NM_003060.4(SLC22A5):c.1336G>T (p.Val446Phe)	rs72552733	0.00001
NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys)	rs386134218	0.00001
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys)	rs72552734	0.00001
NM_003060.4(SLC22A5):c.1364C>G (p.Pro455Arg)	rs1408166345	0.00001
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe)	rs386134222	0.00001
NM_003060.4(SLC22A5):c.1411C>T (p.Arg471Cys)	rs749282641	0.00001
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)	rs727504159	0.00001
NM_003060.4(SLC22A5):c.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.629A>G (p.Asn210Ser)	rs386134198	0.00001
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys)	rs121908888	0.00001
NM_003060.4(SLC22A5):c.688T>C (p.Phe230Leu)	rs756650860	0.00001
NM_003060.4(SLC22A5):c.71del (p.Leu24fs)	rs775502377	0.00001
NM_003060.4(SLC22A5):c.77G>A (p.Ser26Asn)	rs772578415	0.00001
NM_003060.4(SLC22A5):c.806del (p.Leu269fs)	rs386134204	0.00001
NM_003060.4(SLC22A5):c.839C>T (p.Ser280Phe)	rs386134208	0.00001
NM_003072.5(SMARCA4):c.2124-5C>A	rs182602020	0.00001
NM_003183.6(ADAM17):c.362-11T>C	rs1664944582	0.00001
NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met)	rs1232197674	0.00001
NM_003227.4(TFR2):c.1330G>A (p.Ala444Thr)	rs80338884	0.00001
NM_003331.5(TYK2):c.1404C>T (p.Asp468=)	rs374132564	0.00001
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)	rs773138218	0.00001
NM_003482.4(KMT2D):c.10027C>G (p.Leu3343Val)	rs1299043216	0.00001
NM_003482.4(KMT2D):c.14075+8C>T	rs962057732	0.00001
NM_003482.4(KMT2D):c.181G>A (p.Gly61Ser)	rs1938304119	0.00001
NM_003482.4(KMT2D):c.9128A>G (p.Asn3043Ser)	rs746344900	0.00001
NM_003560.4(PLA2G6):c.1427+1G>A	rs750939090	0.00001
NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln)	rs587784332	0.00001
NM_003560.4(PLA2G6):c.1933C>T (p.Arg645Ter)	rs1484455290	0.00001
NM_003664.5(AP3B1):c.3131+1G>A	rs766116144	0.00001
NM_003721.4(RFXANK):c.454_455del (p.Ile152fs)	rs753338285	0.00001
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys)	rs772294884	0.00001
NM_003896.4(ST3GAL5):c.82+1G>C	rs878854615	0.00001
NM_003924.4(PHOX2B):c.785G>T (p.Gly262Val)	rs768420488	0.00001
NM_003924.4(PHOX2B):c.932G>A (p.Ser311Asn)	rs762234006	0.00001
NM_003977.4(AIP):c.571C>T (p.Arg191Cys)	rs189861025	0.00001
NM_003982.4(SLC7A7):c.1116C>G (p.Tyr372Ter)	rs773357652	0.00001
NM_003982.4(SLC7A7):c.1244_1245insTTAC (p.Lys415fs)	rs752263234	0.00001
NM_003982.4(SLC7A7):c.1383_1384del (p.Ile461fs)	rs1355745932	0.00001
NM_003982.4(SLC7A7):c.1387del (p.Val463fs)	rs386833806	0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)	rs104894413	0.00001
NM_004092.4(ECHS1):c.72G>A (p.Trp24Ter)	rs776926045	0.00001
NM_004211.5(SLC6A5):c.683C>A (p.Ala228Asp)	rs371265931	0.00001
NM_004304.5(ALK):c.1067A>G (p.Gln356Arg)	rs773367495	0.00001
NM_004304.5(ALK):c.1720G>A (p.Gly574Arg)	rs762358335	0.00001
NM_004304.5(ALK):c.3236A>C (p.Lys1079Thr)	rs754163075	0.00001
NM_004304.5(ALK):c.3842G>A (p.Ser1281Asn)	rs761459938	0.00001
NM_004304.5(ALK):c.4237G>A (p.Val1413Met)	rs560530815	0.00001
NM_004304.5(ALK):c.775C>T (p.Arg259Cys)	rs771593278	0.00001
NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr)	rs779253471	0.00001
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu)	rs200920510	0.00001
NM_004453.4(ETFDH):c.1852T>C (p.Ter618Gln)	rs765742496	0.00001
NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro)	rs1172887273	0.00001
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg)	rs779896449	0.00001
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn)	rs748289922	0.00001
NM_004453.4(ETFDH):c.733G>A (p.Ala245Thr)	rs371260517	0.00001
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)	rs537038850	0.00001
NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg)	rs763541530	0.00001
NM_004453.4(ETFDH):c.835T>C (p.Trp279Arg)	rs754082348	0.00001
NM_004539.4(NARS1):c.1633C>T (p.Arg545Cys)	rs770931044	0.00001
NM_004553.6(NDUFS6):c.309+5G>A	rs763535523	0.00001
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro)	rs386833863	0.00001
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys)	rs386833865	0.00001
NM_004646.4(NPHS1):c.1103C>T (p.Pro368Leu)	rs386833867	0.00001
NM_004646.4(NPHS1):c.1170+7C>T	rs906888001	0.00001
NM_004646.4(NPHS1):c.1481del (p.Ser494fs)	rs386833883	0.00001
NM_004646.4(NPHS1):c.1555C>T (p.Pro519Ser)	rs386833884	0.00001
NM_004646.4(NPHS1):c.2131C>A (p.Arg711Ser)	rs764181464	0.00001
NM_004646.4(NPHS1):c.2464G>A (p.Val822Met)	rs267606918	0.00001
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter)	rs386833920	0.00001
NM_004646.4(NPHS1):c.2815+3A>G	rs1223946044	0.00001
NM_004646.4(NPHS1):c.534del (p.Thr179fs)	rs386833952	0.00001
NM_004646.4(NPHS1):c.808G>T (p.Gly270Cys)	rs386833961	0.00001
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)	rs267606754	0.00001
NM_005006.7(NDUFS1):c.721C>T (p.Arg241Trp)	rs199422225	0.00001
NM_005055.5(RAPSN):c.493G>A (p.Val165Met)	rs761584017	0.00001
NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp)	rs374604570	0.00001
NM_005198.5(CHKB):c.1031+3G>C	rs751176079	0.00001
NM_005476.7(GNE):c.1525C>T (p.His509Tyr)	rs754892377	0.00001
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg)	rs762009737	0.00001
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe)	rs372732220	0.00001
NM_005476.7(GNE):c.301C>T (p.Arg101Cys)	rs148523065	0.00001
NM_005476.7(GNE):c.529C>T (p.Arg177Cys)	rs539332585	0.00001
NM_005476.7(GNE):c.612G>A (p.Trp204Ter)	rs786204476	0.00001
NM_005476.7(GNE):c.893T>C (p.Ile298Thr)	rs757091387	0.00001
NM_005591.4(MRE11):c.1447C>T (p.Arg483Ter)	rs780001540	0.00001
NM_005591.4(MRE11):c.2070+2T>A	rs786202801	0.00001
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser)	rs137852760	0.00001
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys)	rs757681143	0.00001
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu)	rs773204705	0.00001
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu)	rs756251887	0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp)	rs377225525	0.00001
NM_005609.4(PYGM):c.1709G>A (p.Arg570Gln)	rs143550601	0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)	rs119103255	0.00001
NM_005609.4(PYGM):c.1827G>A (p.Lys609=)	rs119103259	0.00001
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)	rs119103253	0.00001
NM_005609.4(PYGM):c.2111C>T (p.Ala704Val)	rs1483102315	0.00001
NM_005609.4(PYGM):c.549G>A (p.Trp183Ter)	rs1223885403	0.00001
NM_005609.4(PYGM):c.661-601G>A	rs1474863903	0.00001
NM_005609.4(PYGM):c.78_79del (p.Glu27fs)	rs755117847	0.00001
NM_005677.4(COLQ):c.1281C>T (p.Cys427=)	rs185829251	0.00001
NM_005677.4(COLQ):c.954+1G>A	rs757060689	0.00001
NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter)	rs1247689593	0.00001
NM_005732.4(RAD50):c.1237C>T (p.Gln413Ter)	rs373428259	0.00001
NM_005732.4(RAD50):c.3598C>T (p.Arg1200Ter)	rs750586158	0.00001
NM_005732.4(RAD50):c.552-1G>A	rs1236278956	0.00001
NM_005732.4(RAD50):c.94dup (p.Thr32fs)	rs587781625	0.00001
NM_005989.4(AKR1D1):c.509A>G (p.Asn170Ser)	rs753124330	0.00001
NM_005993.5(TBCD):c.2314C>T (p.Arg772Cys)	rs181969865	0.00001
NM_006005.3(WFS1):c.2191A>G (p.Met731Val)	rs144010362	0.00001
NM_006005.3(WFS1):c.2263T>C (p.Cys755Arg)	rs797045075	0.00001
NM_006019.4(TCIRG1):c.-5+1G>T	rs917505107	0.00001
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter)	rs777785526	0.00001
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser)	rs200851583	0.00001
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter)	rs1338631330	0.00001
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter)	rs749361897	0.00001
NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter)	rs119479062	0.00001
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp)	rs373044722	0.00001
NM_006214.4(PHYH):c.610G>A (p.Gly204Ser)	rs104894173	0.00001
NM_006261.5(PROP1):c.334C>T (p.Arg112Ter)	rs766673446	0.00001
NM_006306.4(SMC1A):c.1911+7A>G	rs2075687773	0.00001
NM_006432.5(NPC2):c.190+5G>A	rs80358268	0.00001
NM_006493.4(CLN5):c.188G>A (p.Arg63His)	rs104894386	0.00001
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys)	rs148862100	0.00001
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter)	rs1558498928	0.00001
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter)	rs769256568	0.00001
NM_006734.4(HIVEP2):c.2156C>T (p.Thr719Ile)	rs780128851	0.00001
NM_006759.4(UGP2):c.34A>G (p.Met12Val)	rs768305634	0.00001
NM_006767.4(LZTR1):c.1785+1G>A	rs145594158	0.00001
NM_006767.4(LZTR1):c.2407-2A>G	rs1158550690	0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)	rs1223430276	0.00001
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter)	rs753621591	0.00001
NM_006904.7(PRKDC):c.7080T>C (p.Phe2360=)	rs1463023336	0.00001
NM_006904.7(PRKDC):c.7371C>T (p.Pro2457=)	rs1037182844	0.00001
NM_006946.4(SPTBN2):c.1973G>A (p.Arg658Gln)	rs753491527	0.00001
NM_007194.4(CHEK2):c.1009-7T>G	rs763174055	0.00001
NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter)	rs760502479	0.00001
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn)	rs28909980	0.00001
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)	rs371418985	0.00001
NM_007194.4(CHEK2):c.1260-8A>G	rs863224747	0.00001
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)	rs540635787	0.00001
NM_007194.4(CHEK2):c.1489del (p.Asp497fs)	rs774175654	0.00001
NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter)	rs1064793817	0.00001
NM_007194.4(CHEK2):c.319+1G>A	rs765080766	0.00001
NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg)	rs72552323	0.00001
NM_007194.4(CHEK2):c.592+3A>T	rs587782849	0.00001
NM_007194.4(CHEK2):c.792+2T>C	rs545982789	0.00001
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter)	rs761494650	0.00001
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys)	rs587782460	0.00001
NM_007272.3(CTRC):c.494-1G>C	rs766917452	0.00001
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly)	rs80357064	0.00001
NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs)	rs80357717	0.00001
NM_007294.4(BRCA1):c.301+6T>C	rs753859240	0.00001
NM_007294.4(BRCA1):c.397C>T (p.Arg133Cys)	rs80357457	0.00001
NM_007294.4(BRCA1):c.442-1G>T	rs1351019392	0.00001
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr)	rs80356987	0.00001
NM_007294.4(BRCA1):c.4986+6T>C	rs80358086	0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)	rs41293459	0.00001
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg)	rs41293463	0.00001
NM_007294.4(BRCA1):c.5333A>G (p.Asp1778Gly)	rs80357041	0.00001
NM_007294.4(BRCA1):c.535T>C (p.Tyr179His)	rs587781761	0.00001
NM_007294.4(BRCA1):c.5467+1G>A	rs80358145	0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)	rs41293465	0.00001
NM_007294.4(BRCA1):c.5573T>C (p.Ile1858Thr)	rs755427809	0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	rs267607048	0.00001
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys)	rs180177307	0.00001
NM_012203.2(GRHPR):c.404+5G>A	rs757796926	0.00001
NM_012203.2(GRHPR):c.454dup (p.Thr152fs)	rs771019056	0.00001
NM_012203.2(GRHPR):c.478G>A (p.Gly160Arg)	rs180177312	0.00001
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp)	rs180177314	0.00001
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys)	rs180177322	0.00001
NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter)	rs1331106064	0.00001
NM_012213.3(MLYCD):c.928C>T (p.Arg310Ter)	rs759043861	0.00001
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter)	rs1057516910	0.00001
NM_012434.5(SLC17A5):c.1111+1G>A	rs777862172	0.00001
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)	rs769235753	0.00001
NM_012434.5(SLC17A5):c.1259+1G>A	rs146095590	0.00001
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)	rs1234745577	0.00001
NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs)	rs1472109408	0.00001
NM_013339.4(ALG6):c.250G>A (p.Ala84Thr)	rs762643273	0.00001
NM_013339.4(ALG6):c.680+1G>A	rs1253289234	0.00001
NM_013339.4(ALG6):c.680+2T>G	rs868768232	0.00001
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu)	rs372079206	0.00001
NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser)	rs267606970	0.00001
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro)	rs190285831	0.00001
NM_014049.5(ACAD9):c.1168G>A (p.Ala390Thr)	rs763004980	0.00001
NM_014049.5(ACAD9):c.1240C>T (p.Arg414Cys)	rs777282696	0.00001
NM_014049.5(ACAD9):c.1553G>A (p.Arg518His)	rs781149699	0.00001
NM_014049.5(ACAD9):c.1646G>A (p.Arg549Gln)	rs750899715	0.00001
NM_014049.5(ACAD9):c.453+2T>A	rs1179305061	0.00001
NM_014171.6(CRIPT):c.8G>A (p.Cys3Tyr)	rs757078301	0.00001
NM_014236.4(GNPAT):c.631C>T (p.Arg211Cys)	rs121434440	0.00001
NM_014251.3(SLC25A13):c.1231G>A (p.Val411Met)	rs768922690	0.00001
NM_014252.4(SLC25A15):c.824G>A (p.Arg275Gln)	rs104894431	0.00001
NM_014297.5(ETHE1):c.187C>T (p.Gln63Ter)	rs368778231	0.00001
NM_014297.5(ETHE1):c.375+5G>A	rs769259233	0.00001
NM_014297.5(ETHE1):c.505+1G>A	rs935855792	0.00001
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)	rs121918329	0.00001
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)	rs1057517250	0.00001
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)	rs780247476	0.00001
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)	rs762947018	0.00001
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu)	rs1440541889	0.00001
NM_014363.6(SACS):c.3066del (p.Asn1025fs)	rs1057516767	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.7273C>T (p.Arg2425Ter)	rs145766983	0.00001
NM_014363.6(SACS):c.8108G>A (p.Arg2703His)	rs750181262	0.00001
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter)	rs886041949	0.00001
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp)	rs121908420	0.00001
NM_014625.4(NPHS2):c.503G>A (p.Arg168His)	rs530318579	0.00001
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp)	rs74315348	0.00001
NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln)	rs766316995	0.00001
NM_014762.4(DHCR24):c.281G>A (p.Arg94His)	rs387906939	0.00001
NM_014795.4(ZEB2):c.1112A>T (p.Asn371Ile)	rs1290033369	0.00001
NM_015166.4(MLC1):c.136del (p.Cys46fs)	rs1057516766	0.00001
NM_015166.4(MLC1):c.177+1G>T	rs1374593138	0.00001
NM_015166.4(MLC1):c.278C>T (p.Ser93Leu)	rs80358245	0.00001
NM_015166.4(MLC1):c.353C>T (p.Thr118Met)	rs281875316	0.00001
NM_015166.4(MLC1):c.423+1G>A	rs752428321	0.00001
NM_015166.4(MLC1):c.714+1G>A	rs761620701	0.00001
NM_015294.6(TRIM37):c.1411C>T (p.Arg471Ter)	rs386834001	0.00001
NM_015294.6(TRIM37):c.227T>C (p.Leu76Pro)	rs386834004	0.00001
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs)	rs551541795	0.00001
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs)	rs768019897	0.00001
NM_015506.3(MMACHC):c.384del (p.Tyr129fs)	rs1347498294	0.00001
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His)	rs372670428	0.00001
NM_015506.3(MMACHC):c.434dup (p.Ser146fs)	rs768978351	0.00001
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)	rs538023671	0.00001
NM_015702.3(MMADHC):c.154+1G>A	rs1385597423	0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)	rs118204046	0.00001
NM_016035.5(COQ4):c.458C>T (p.Ala153Val)	rs757173567	0.00001
NM_016038.4(SBDS):c.523C>T (p.Arg175Trp)	rs774976459	0.00001
NM_016038.4(SBDS):c.652C>T (p.Arg218Ter)	rs113993998	0.00001
NM_016204.4(GDF2):c.252G>A (p.Glu84=)	rs1410431494	0.00001
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp)	rs564185858	0.00001
NM_017534.6(MYH2):c.4537+1G>A	rs567336764	0.00001
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val)	rs748862853	0.00001
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His)	rs150877512	0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)	rs375431575	0.00001
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)	rs773684291	0.00001
NM_017934.7(PHIP):c.2902C>T (p.Arg968Ter)	rs200788163	0.00001
NM_018062.4(FANCL):c.273+1G>C	rs144729980	0.00001
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter)	rs149998588	0.00001
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)	rs142500730	0.00001
NM_018486.3(HDAC8):c.932C>T (p.Thr311Met)	rs397515417	0.00001
NM_018941.4(CLN8):c.209G>A (p.Arg70His)	rs386834124	0.00001
NM_019042.5(PUS7):c.1160C>T (p.Thr387Met)	rs916775904	0.00001
NM_020166.5(MCCC1):c.1074G>A (p.Trp358Ter)	rs367625370	0.00001
NM_020166.5(MCCC1):c.1315G>A (p.Val439Met)	rs398124352	0.00001
NM_020166.5(MCCC1):c.1483C>T (p.Gln495Ter)	rs1713700813	0.00001
NM_020166.5(MCCC1):c.1682-3A>G	rs760180709	0.00001
NM_020166.5(MCCC1):c.313C>T (p.Gln105Ter)	rs1163620394	0.00001
NM_020166.5(MCCC1):c.539G>T (p.Gly180Val)	rs748201122	0.00001
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly)	rs746500530	0.00001
NM_020166.5(MCCC1):c.872del (p.Ala291fs)	rs748269732	0.00001
NM_020320.5(RARS2):c.517G>A (p.Asp173Asn)	rs769045045	0.00001
NM_020442.6(VARS2):c.1400G>A (p.Arg467His)	rs775439829	0.00001
NM_020458.4(TTC7A):c.2495C>T (p.Ala832Val)	rs755985958	0.00001
NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro)	rs767122713	0.00001
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter)	rs121908371	0.00001
NM_020533.3(MCOLN1):c.984+1G>A	rs767950930	0.00001
NM_020549.5(CHAT):c.1258C>T (p.Arg420Cys)	rs121912822	0.00001
NM_020549.5(CHAT):c.1321G>A (p.Glu441Lys)	rs121912816	0.00001
NM_020549.5(CHAT):c.1510C>T (p.Arg504Ter)	rs371470622	0.00001
NM_020549.5(CHAT):c.1679G>A (p.Arg560His)	rs121912819	0.00001
NM_020549.5(CHAT):c.1681C>T (p.Arg561Ter)	rs1458796820	0.00001
NM_020549.5(CHAT):c.243G>A (p.Trp81Ter)	rs1384661323	0.00001
NM_020686.6(ABAT):c.275G>A (p.Arg92Gln)	rs724159992	0.00001
NM_020708.5(SLC12A5):c.2658G>A (p.Ala886=)	rs546939045	0.00001
NM_020975.6(RET):c.2166G>T (p.Lys722Asn)	rs527726480	0.00001
NM_020975.6(RET):c.2982A>C (p.Lys994Asn)	rs199718928	0.00001
NM_020975.6(RET):c.3332C>T (p.Thr1111Met)	rs1003057639	0.00001
NM_021922.3(FANCE):c.1114-8G>A	rs878854342	0.00001
NM_021922.3(FANCE):c.1510-1G>A	rs772678337	0.00001
NM_021922.3(FANCE):c.265C>T (p.Arg89Ter)	rs752690798	0.00001
NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg)	rs397509417	0.00001
NM_021942.6(TRAPPC11):c.3014C>T (p.Pro1005Leu)	rs764158202	0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)	rs397517349	0.00001
NM_022132.5(MCCC2):c.1064T>A (p.Leu355Ter)	rs751393852	0.00001
NM_022132.5(MCCC2):c.1342G>A (p.Gly448Arg)	rs766045910	0.00001
NM_022132.5(MCCC2):c.1412_1413del (p.Ser471fs)	rs780304038	0.00001
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met)	rs767575019	0.00001
NM_022132.5(MCCC2):c.1488G>C (p.Gln496His)	rs745367639	0.00001
NM_022132.5(MCCC2):c.230C>G (p.Ser77Ter)	rs1304896406	0.00001
NM_022132.5(MCCC2):c.302C>T (p.Ser101Phe)	rs748028684	0.00001
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln)	rs119103220	0.00001
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg)	rs119103222	0.00001
NM_022132.5(MCCC2):c.562C>T (p.Arg188Ter)	rs774180632	0.00001
NM_022132.5(MCCC2):c.578G>A (p.Arg193His)	rs535519604	0.00001
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr)	rs119103226	0.00001
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter)	rs727504010	0.00001
NM_022464.5(SIL1):c.741G>A (p.Ala247=)	rs773520401	0.00001
NM_024120.5(NDUFAF5):c.155A>C (p.Lys52Thr)	rs531254130	0.00001
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val)	rs757043077	0.00001
NM_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter)	rs1325403451	0.00001
NM_024422.6(DSC2):c.631-2A>G	rs397514042	0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)	rs121917778	0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)	rs200688985	0.00001
NM_024675.4(PALB2):c.127A>G (p.Lys43Glu)	rs765125459	0.00001
NM_024675.4(PALB2):c.1343G>A (p.Ser448Asn)	rs956172059	0.00001
NM_024675.4(PALB2):c.156del (p.Glu53fs)	rs587776406	0.00001
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)	rs180177083	0.00001
NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys)	rs62625277	0.00001
NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter)	rs755263466	0.00001
NM_024675.4(PALB2):c.2087C>T (p.Thr696Met)	rs587780820	0.00001
NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter)	rs764509489	0.00001
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)	rs180177112	0.00001
NM_024675.4(PALB2):c.2559C>T (p.Gly853=)	rs180177115	0.00001
NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg)	rs587782387	0.00001
NM_024675.4(PALB2):c.3044C>T (p.Thr1015Ile)	rs367840862	0.00001
NM_024675.4(PALB2):c.3113+5G>C	rs876659463	0.00001
NM_024675.4(PALB2):c.3201+1G>T	rs587776423	0.00001
NM_024675.4(PALB2):c.3350+5G>A	rs587782566	0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)	rs118203998	0.00001
NM_024675.4(PALB2):c.758dup (p.Ser254fs)	rs515726126	0.00001
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter)	rs786203821	0.00001
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser)	rs786204575	0.00001
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu)	rs1555202697	0.00001
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter)	rs758732081	0.00001
NM_024818.6(UBA5):c.169A>G (p.Met57Val)	rs532178791	0.00001
NM_024996.7(GFM1):c.100C>T (p.Arg34Ter)	rs766234016	0.00001
NM_024996.7(GFM1):c.1910-1G>A	rs1462851267	0.00001
NM_024996.7(GFM1):c.424del (p.Val142fs)	rs886058120	0.00001
NM_024996.7(GFM1):c.688G>A (p.Gly230Ser)	rs774456344	0.00001
NM_024996.7(GFM1):c.700C>T (p.Arg234Ter)	rs863224032	0.00001
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)	rs139430866	0.00001
NM_025077.4(TOE1):c.-37T>A	rs759654665	0.00001
NM_025077.4(TOE1):c.-38G>C	rs774530388	0.00001
NM_025099.6(CTC1):c.775G>A (p.Val259Met)	rs387907080	0.00001
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)	rs1290241933	0.00001
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys)	rs113994149	0.00001
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)	rs778090540	0.00001
NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter)	rs201063733	0.00001
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)	rs201196733	0.00001
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys)	rs750506474	0.00001
NM_031885.5(BBS2):c.471G>A (p.Thr157=)	rs749983428	0.00001
NM_031885.5(BBS2):c.563del (p.Ile188fs)	rs1367927635	0.00001
NM_031885.5(BBS2):c.717+1G>A	rs1047075022	0.00001
NM_032043.3(BRIP1):c.1188dup (p.Asn397Ter)	rs1603342313	0.00001
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)	rs368796923	0.00001
NM_032043.3(BRIP1):c.1594dup (p.Met532fs)	rs1339743866	0.00001
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter)	rs575595017	0.00001
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys)	rs764803896	0.00001
NM_032043.3(BRIP1):c.2464dup (p.Tyr822fs)	rs1483527885	0.00001
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter)	rs587782410	0.00001
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp)	rs121908316	0.00001
NM_032383.5(HPS3):c.2589+2T>C	rs1411572278	0.00001
NM_032383.5(HPS3):c.2733del (p.Leu911_Leu912insTer)	rs765169755	0.00001
NM_032409.3(PINK1):c.1123+19A>G	rs762129771	0.00001
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter)	rs760126773	0.00001
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu)	rs28938468	0.00001
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly)	rs772548770	0.00001
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter)	rs775710800	0.00001
NM_052845.4(MMAB):c.380C>A (p.Ala127Asp)	rs778169806	0.00001
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe)	rs749936057	0.00001
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys)	rs749758687	0.00001
NM_052845.4(MMAB):c.584G>A (p.Arg195His)	rs756195708	0.00001
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter)	rs786204537	0.00001
NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln)	rs771937610	0.00001
NM_054012.4(ASS1):c.174+1G>T	rs748264993	0.00001
NM_054012.4(ASS1):c.175-1119G>A	rs1488840592	0.00001
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys)	rs121908644	0.00001
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser)	rs770944877	0.00001
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)	rs121908636	0.00001
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu)	rs121908643	0.00001
NM_054012.4(ASS1):c.577G>A (p.Gly193Arg)	rs1311437424	0.00001
NM_054012.4(ASS1):c.647C>A (p.Ala216Asp)	rs1043964127	0.00001
NM_054012.4(ASS1):c.773+49C>T	rs763389916	0.00001
NM_054012.4(ASS1):c.793C>T (p.Arg265Cys)	rs148918985	0.00001
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter)	rs121908645	0.00001
NM_054012.4(ASS1):c.838+1G>T	rs750214431	0.00001
NM_054012.4(ASS1):c.970+5G>A	rs372128852	0.00001
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe)	rs267606999	0.00001
NM_058216.3(RAD51C):c.571+4A>G	rs587780257	0.00001
NM_058216.3(RAD51C):c.621T>A (p.His207Gln)	rs786201848	0.00001
NM_058216.3(RAD51C):c.904+5G>T	rs587782702	0.00001
NM_058216.3(RAD51C):c.905-2_905-1del	rs587781995	0.00001
NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln)	rs779834376	0.00001
NM_080424.4(SP110):c.1891C>T (p.Arg631Ter)	rs1011767398	0.00001
NM_130839.5(UBE3A):c.2415T>C (p.Phe805=)	rs587780991	0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met)	rs730882213	0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)	rs144193508	0.00001
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter)	rs786204749	0.00001
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter)	rs754392766	0.00001
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys)	rs794727366	0.00001
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile)	rs747895516	0.00001
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr)	rs794727566	0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met)	rs137852946	0.00001
NM_138694.4(PKHD1):c.707+1G>A	rs748365248	0.00001
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr)	rs398124492	0.00001
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg)	rs886061616	0.00001
NM_138694.4(PKHD1):c.8555-2A>C	rs1020621286	0.00001
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter)	rs765020336	0.00001
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)	rs786204688	0.00001
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter)	rs398124503	0.00001
NM_145207.3(AFG2A):c.164-4A>G	rs752411823	0.00001
NM_147196.3(TMIE):c.274C>T (p.Arg92Trp)	rs28941781	0.00001
NM_152383.5(DIS3L2):c.1096G>T (p.Glu366Ter)	rs760123810	0.00001
NM_152383.5(DIS3L2):c.1162C>T (p.Arg388Ter)	rs766629924	0.00001
NM_152383.5(DIS3L2):c.127C>T (p.Arg43Ter)	rs762653147	0.00001
NM_152383.5(DIS3L2):c.2170C>T (p.Arg724Ter)	rs773260717	0.00001
NM_152443.3(RDH12):c.133A>G (p.Thr45Ala)	rs1225487694	0.00001
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln)	rs971610277	0.00001
NM_152443.3(RDH12):c.619A>G (p.Asn207Asp)	rs745871149	0.00001
NM_152443.3(RDH12):c.671C>T (p.Thr224Ile)	rs200302290	0.00001
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys)	rs28940313	0.00001
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter)	rs1381368546	0.00001
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter)	rs1269565757	0.00001
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala)	rs1357690062	0.00001
NM_152618.3(BBS12):c.1574G>A (p.Arg525His)	rs776730549	0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)	rs752202089	0.00001
NM_153603.4(COG7):c.1717C>T (p.Arg573Trp)	rs548129734	0.00001
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter)	rs377145777	0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)	rs200466188	0.00001
NM_170784.3(MKKS):c.169A>G (p.Thr57Ala)	rs74315399	0.00001
NM_172250.3(MMAA):c.365T>C (p.Leu122Pro)	rs760875006	0.00001
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln)	rs200577967	0.00001
NM_176787.5(PIGN):c.163C>T (p.Arg55Ter)	rs768412580	0.00001
NM_176787.5(PIGN):c.2237T>G (p.Ile746Arg)	rs771266203	0.00001
NM_176824.3(BBS7):c.728G>A (p.Cys243Tyr)	rs727503821	0.00001
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter)	rs151275562	0.00001
NM_177924.5(ASAH1):c.536C>T (p.Thr179Ile)	rs766257867	0.00001
NM_182649.2(PCNA):c.683G>T (p.Ser228Ile)	rs369958038	0.00001
NM_183050.4(BCKDHB):c.1067C>T (p.Pro356Leu)	rs1304667430	0.00001
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter)	rs751599203	0.00001
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val)	rs776631396	0.00001
NM_183050.4(BCKDHB):c.506A>G (p.Tyr169Cys)	rs398124580	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.1892A>G (p.Tyr631Cys)	rs1271816211	0.00001
NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys)	rs765676754	0.00001
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro)	rs1451348539	0.00001
NM_201253.3(CRB1):c.2842+5G>A	rs773914330	0.00001
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro)	rs62636276	0.00001
NM_201548.5(CERKL):c.1074-1G>C	rs927261937	0.00001
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter)	rs1187839124	0.00001
NM_201548.5(CERKL):c.239-2A>G	rs776886395	0.00001
NM_201548.5(CERKL):c.613+4_613+5del	rs766131721	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.12152_12153insTT (p.Glu4051fs)	rs1064793289	0.00001
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)	rs768161313	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.14017T>C (p.Tyr4673His)	rs1040917329	0.00001
NM_206933.4(USH2A):c.14285A>G (p.Asn4762Ser)	rs1254637647	0.00001
NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg)	rs199851839	0.00001
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)	rs397517994	0.00001
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr)	rs1393503590	0.00001
NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter)	rs886039449	0.00001
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu)	rs751479180	0.00001
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg)	rs139311927	0.00001
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter)	rs745350407	0.00001
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)	rs1461319754	0.00001
NM_206933.4(USH2A):c.5278del (p.Asp1760fs)	rs754374132	0.00001
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)	rs770329105	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.6967C>T (p.Arg2323Ter)	rs1485173724	0.00001
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter)	rs1064797134	0.00001
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)	rs397518041	0.00001
NM_206933.4(USH2A):c.9258+1G>A	rs748810737	0.00001
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)	rs111033263	0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)	rs764182950	0.00001
NM_207122.2(EXT2):c.1305+2T>C	rs202153611	0.00001
NM_000016.6(ACADM):c.1010A>C (p.Tyr337Ser)	rs1323513432
NM_000016.6(ACADM):c.1040G>T (p.Gly347Val)
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs)	rs387906297
NM_000016.6(ACADM):c.1114dup (p.Ala372fs)	rs1057516278
NM_000016.6(ACADM):c.1207A>G (p.Thr403Ala)	rs1462472677
NM_000016.6(ACADM):c.1229T>C (p.Ile410Thr)	rs1361089796
NM_000016.6(ACADM):c.165del (p.Phe55fs)	rs1319192670
NM_000016.6(ACADM):c.217-1G>A	rs1570861829
NM_000016.6(ACADM):c.217-2A>G	rs1647169738
NM_000016.6(ACADM):c.224del (p.Val75fs)	rs1057516480
NM_000016.6(ACADM):c.24C>A (p.Cys8Ter)	rs2100332723
NM_000016.6(ACADM):c.260T>C (p.Met87Thr)	rs767649048
NM_000016.6(ACADM):c.287-2A>G	rs1057518677
NM_000016.6(ACADM):c.30+1G>C
NM_000016.6(ACADM):c.306_307insG (p.Phe103fs)	rs2100365750
NM_000016.6(ACADM):c.383dup (p.Leu128fs)	rs1647189225
NM_000016.6(ACADM):c.387+1del	rs786204424
NM_000016.6(ACADM):c.397ATT[2] (p.Ile135del)	rs1570866192
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del)	rs875989857
NM_000016.6(ACADM):c.437del (p.Leu146fs)	rs749529577
NM_000016.6(ACADM):c.449_452del (p.Thr150fs)	rs786204642
NM_000016.6(ACADM):c.461T>G (p.Leu154Trp)	rs1553123263
NM_000016.6(ACADM):c.472T>C (p.Tyr158His)	rs1570876467
NM_000016.6(ACADM):c.47del (p.Ser16fs)	rs1325949559
NM_000016.6(ACADM):c.526G>A (p.Ala176Thr)	rs200754053
NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del)	rs1553123869
NM_000016.6(ACADM):c.542A>G (p.Asp181Gly)	rs1553123872
NM_000016.6(ACADM):c.554T>C (p.Ile185Thr)	rs1647480996
NM_000016.6(ACADM):c.577A>G (p.Thr193Ala)	rs121434279
NM_000016.6(ACADM):c.613G>C (p.Ala205Pro)	rs1324329442
NM_000016.6(ACADM):c.617G>T (p.Arg206Leu)	rs200724875
NM_000016.6(ACADM):c.67C>T (p.Gln23Ter)	rs1570851702
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn)	rs149678400
NM_000016.6(ACADM):c.778_782del (p.Glu260fs)	rs2100417619
NM_000016.6(ACADM):c.817_829del (p.Ala273fs)	rs875989872
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr)	rs779759347
NM_000016.6(ACADM):c.91C>T (p.Arg31Cys)
NM_000016.6(ACADM):c.946-6T>G	rs765793260
NM_000016.6(ACADM):c.957_958del (p.Ser320fs)	rs1057517103
NM_000016.6(ACADM):c.982A>G (p.Met328Val)	rs1648825926
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter)	rs1225471006
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro)	rs777002501
NM_000018.3(ACADVL):c.1375dup	rs796051916
NM_000018.4(ACADVL):c.103_112del (p.Pro35fs)	rs1329022268
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs)	rs1555527532
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del)	rs754325237
NM_000018.4(ACADVL):c.1077+1G>A	rs140989450
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC	rs1057516686
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro)	rs776063244
NM_000018.4(ACADVL):c.1145del (p.Lys382fs)	rs1281137823
NM_000018.4(ACADVL):c.1168C>T (p.Gln390Ter)
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr)	rs118204018
NM_000018.4(ACADVL):c.1269+1G>A	rs773401248
NM_000018.4(ACADVL):c.1276G>A (p.Ala426Thr)	rs1419478766
NM_000018.4(ACADVL):c.1309A>G (p.Met437Val)	rs2071345754
NM_000018.4(ACADVL):c.1310T>C (p.Met437Thr)	rs2071345821
NM_000018.4(ACADVL):c.1316dup (p.Met440fs)	rs748077880
NM_000018.4(ACADVL):c.1318_1319dup (p.Met440fs)
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His)	rs794727112
NM_000018.4(ACADVL):c.1389dup (p.Thr464fs)	rs398123082
NM_000018.4(ACADVL):c.1522C>T (p.Gln508Ter)
NM_000018.4(ACADVL):c.1593dup (p.Ser532fs)	rs1060499596
NM_000018.4(ACADVL):c.1682_1701del (p.Glu561fs)
NM_000018.4(ACADVL):c.175_182del (p.Ala59fs)
NM_000018.4(ACADVL):c.1770_1773del (p.Ser590fs)	rs1555529048
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer)	rs796051917
NM_000018.4(ACADVL):c.1808del (p.Cys603fs)	rs2142990894
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter)	rs1057520507
NM_000018.4(ACADVL):c.192del (p.Lys64fs)	rs771055189
NM_000018.4(ACADVL):c.192dup (p.Pro65fs)	rs771055189
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter)	rs765432568
NM_000018.4(ACADVL):c.260T>C (p.Val87Ala)	rs796051907
NM_000018.4(ACADVL):c.266del (p.Pro89fs)	rs771808680
NM_000018.4(ACADVL):c.277G>A (p.Val93Met)
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs)	rs786204713
NM_000018.4(ACADVL):c.307_323dup (p.Val109fs)	rs1597520263
NM_000018.4(ACADVL):c.335del (p.Phe112fs)	rs764028320
NM_000018.4(ACADVL):c.343del	rs387906249
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)	rs387906251
NM_000018.4(ACADVL):c.421dup (p.Ala141fs)	rs2071185652
NM_000018.4(ACADVL):c.428_467del (p.Gly143fs)	rs758144859
NM_000018.4(ACADVL):c.433C>T (p.Gln145Ter)	rs786204738
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr)	rs375284481
NM_000018.4(ACADVL):c.515T>C (p.Leu172Pro)	rs1597524963
NM_000018.4(ACADVL):c.604C>G (p.Leu202Val)
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro)	rs768975918
NM_000018.4(ACADVL):c.626dup (p.Thr210fs)	rs2142976531
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr)	rs140629318
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer)	rs1057516714
NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys)	rs1432183079
NM_000018.4(ACADVL):c.688dup (p.Thr230fs)	rs2071255080
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs)	rs1555528304
NM_000018.4(ACADVL):c.733G>T (p.Gly245Ter)
NM_000018.4(ACADVL):c.753-2A>G	rs398123092
NM_000018.4(ACADVL):c.773T>C (p.Ile258Thr)	rs1197133430
NM_000018.4(ACADVL):c.799_802del (p.Val267fs)	rs761204548
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)	rs796051913
NM_000018.4(ACADVL):c.869G>A (p.Gly290Asp)
NM_000018.4(ACADVL):c.869dup (p.Ile291fs)	rs886044671
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del)	rs387906252
NM_000018.4(ACADVL):c.926_927del (p.Glu309fs)	rs2071289046
NM_000018.4(ACADVL):c.932del (p.Phe311fs)	rs764488310
NM_000018.4(ACADVL):c.996del (p.Ala333fs)	rs1057516843
NM_000018.4(ACADVL):c.996dup (p.Ala333fs)	rs1057516843
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del)	rs387906282
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter)	rs1367121673
NM_000019.4(ACAT1):c.1114C>T (p.Gln372Ter)	rs2134791667
NM_000019.4(ACAT1):c.1189C>G (p.His397Asp)	rs746332363
NM_000019.4(ACAT1):c.134dup (p.Ser46fs)	rs1444451434
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del)	rs866364527
NM_000019.4(ACAT1):c.491_495del (p.Asn164fs)	rs2135356039
NM_000019.4(ACAT1):c.537del (p.Ile179fs)	rs1415293773
NM_000019.4(ACAT1):c.571del (p.Ile191fs)	rs761038005
NM_000019.4(ACAT1):c.649_652del (p.Asn217fs)
NM_000019.4(ACAT1):c.64_72+10del	rs1318268067
NM_000019.4(ACAT1):c.716_717del (p.Thr239fs)
NM_000019.4(ACAT1):c.730+2T>C	rs398123096
NM_000019.4(ACAT1):c.733C>T (p.Gln245Ter)	rs2134768525
NM_000019.4(ACAT1):c.806_807del (p.Thr269fs)
NM_000019.4(ACAT1):c.824del (p.Asn275fs)	rs1163072872
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met)	rs886041122
NM_000019.4(ACAT1):c.905del (p.Lys302fs)	rs398123097
NM_000022.4(ADA):c.201C>G (p.Tyr67Ter)	rs1419063255
NM_000022.4(ADA):c.219-2A>G	rs387906267
NM_000022.4(ADA):c.311C>T (p.Pro104Leu)	rs1452483770
NM_000022.4(ADA):c.366_367del (p.Asp123fs)	rs758073965
NM_000022.4(ADA):c.385G>A (p.Val129Met)	rs121908731
NM_000022.4(ADA):c.396dup (p.Val133fs)	rs1555844617
NM_000022.4(ADA):c.412C>T (p.Gln138Ter)
NM_000022.4(ADA):c.478+6T>A	rs1555844600
NM_000022.4(ADA):c.516C>A (p.Tyr172Ter)	rs748810619
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer)	rs886041796
NM_000022.4(ADA):c.603C>A (p.Tyr201Ter)	rs1555844395
NM_000022.4(ADA):c.703C>T (p.Arg235Trp)	rs778809577
NM_000022.4(ADA):c.716G>A (p.Gly239Asp)	rs1312320956
NM_000022.4(ADA):c.854dup (p.Asn285fs)	rs2123511347
NM_000022.4(ADA):c.956_960del (p.Glu319fs)	rs771266745
NM_000023.4(SGCA):c.1025_1026del (p.Glu342fs)
NM_000023.4(SGCA):c.1039_1042dup (p.Ala348fs)	rs1598277713
NM_000023.4(SGCA):c.132_135dup (p.Leu46fs)	rs2144493427
NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter)	rs766400853
NM_000023.4(SGCA):c.229dup (p.Arg77fs)
NM_000023.4(SGCA):c.236_237insA (p.Gln80fs)	rs1567739339
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)	rs1161291343
NM_000023.4(SGCA):c.377dup (p.Asp126fs)	rs1905070544
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)	rs780264754
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)	rs372210292
NM_000023.4(SGCA):c.464del (p.Ser155fs)	rs1555568775
NM_000023.4(SGCA):c.488dup (p.Leu164fs)	rs763986788
NM_000023.4(SGCA):c.596del (p.Lys199fs)
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)	rs200166783
NM_000023.4(SGCA):c.747+1G>A	rs886043392
NM_000023.4(SGCA):c.754_755del (p.Lys252fs)	rs1057517377
NM_000023.4(SGCA):c.801dup (p.Ile268fs)	rs1905256830
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs)	rs1555569329
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)	rs903823830
NM_000023.4(SGCA):c.957-1G>T	rs2144502043
NM_000023.4(SGCA):c.981_982dup (p.Asp328fs)	rs796065318
NM_000026.4(ADSL):c.502G>A (p.Val168Ile)	rs1385675650
NM_000027.4(AGA):c.179G>A (p.Gly60Asp)	rs121964907
NM_000027.4(AGA):c.192del (p.Cys64fs)	rs1553994830
NM_000027.4(AGA):c.198_201del (p.Arg66fs)
NM_000027.4(AGA):c.200_201del (p.Glu67fs)	rs386833420
NM_000027.4(AGA):c.299G>A (p.Gly100Glu)	rs386833421
NM_000027.4(AGA):c.302C>T (p.Ala101Val)	rs121964908
NM_000027.4(AGA):c.329del (p.Asn110fs)	rs764357395
NM_000027.4(AGA):c.333del (p.Ile112fs)	rs1057517223
NM_000027.4(AGA):c.346C>T (p.Arg116Trp)	rs386833423
NM_000027.4(AGA):c.365C>A (p.Thr122Lys)	rs771563230
NM_000027.4(AGA):c.367_371del (p.Thr123fs)	rs1736928101
NM_000027.4(AGA):c.375_376del (p.Leu126fs)	rs386833425
NM_000027.4(AGA):c.375_378del (p.Thr125_Leu126insTer)
NM_000027.4(AGA):c.537C>A (p.Cys179Ter)	rs748171793
NM_000027.4(AGA):c.595G>T (p.Glu199Ter)	rs370078048
NM_000027.4(AGA):c.698+1G>T	rs1057517175
NM_000027.4(AGA):c.755G>A (p.Gly252Glu)	rs386833433
NM_000027.4(AGA):c.916T>C (p.Cys306Arg)	rs121964906
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)	rs180177156
NM_000030.3(AGXT):c.126del (p.Leu43fs)	rs180177171
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)	rs180177195
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg)	rs180177197
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)	rs34116584
NM_000030.3(AGXT):c.33del (p.Lys12fs)	rs180177201
NM_000030.3(AGXT):c.423+1G>A	rs1553648493
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu)	rs180177225
NM_000030.3(AGXT):c.517T>C (p.Cys173Arg)	rs2106428650
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr)	rs180177235
NM_000030.3(AGXT):c.577del (p.Leu193fs)	rs180177241
NM_000030.3(AGXT):c.662_664del (p.Ser221del)	rs796052071
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter)	rs180177259
NM_000030.3(AGXT):c.751_752delinsAA (p.Trp251Lys)	rs796052072
NM_000030.3(AGXT):c.757T>C (p.Cys253Arg)	rs180177264
NM_000030.3(AGXT):c.807dup (p.Tyr270fs)
NM_000030.3(AGXT):c.847-1G>C	rs180177285
NM_000030.3(AGXT):c.983_988del (p.Ala328_Tyr330delinsAsp)	rs180177302
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro)	rs1557054173
NM_000033.4(ABCD1):c.1172_1175del (p.Leu391fs)	rs2091749146
NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter)
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr)	rs1557055316
NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del)	rs1603231784
NM_000033.4(ABCD1):c.317_320del (p.Phe106fs)	rs2148388986
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)	rs1131691916
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)	rs1569540704
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)	rs781904944
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)	rs118204428
NM_000035.4(ALDOB):c.113-1G>C	rs748663340
NM_000035.4(ALDOB):c.113-1_115del	rs786204598
NM_000035.4(ALDOB):c.302del (p.Lys101fs)	rs974582114
NM_000035.4(ALDOB):c.324+1G>A	rs764826805
NM_000035.4(ALDOB):c.324+2T>A	rs1057516379
NM_000035.4(ALDOB):c.331C>T (p.Gln111Ter)	rs528914024
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)	rs387906225
NM_000035.4(ALDOB):c.379+1G>A	rs138121153
NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter)	rs1057516902
NM_000035.4(ALDOB):c.469C>T (p.Gln157Ter)	rs1831149748
NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter)	rs370793608
NM_000035.4(ALDOB):c.61C>T (p.Gln21Ter)	rs2118366288
NM_000035.4(ALDOB):c.625-2A>G	rs786204503
NM_000035.4(ALDOB):c.673del (p.Glu225fs)	rs758133069
NM_000035.4(ALDOB):c.742C>T (p.Gln248Ter)
NM_000035.4(ALDOB):c.865del (p.Leu289fs)	rs864309533
NM_000038.6(APC):c.1191_1192dup (p.Lys398fs)	rs2149782311
NM_000038.6(APC):c.1312+1G>A	rs863225310
NM_000038.6(APC):c.1312+3A>G	rs863225311
NM_000038.6(APC):c.1879_1880del (p.Asn627fs)
NM_000038.6(APC):c.203del (p.Leu68fs)	rs1756331894
NM_000038.6(APC):c.221-1G>C	rs863225327
NM_000038.6(APC):c.2396_2397del (p.Tyr799fs)
NM_000038.6(APC):c.2907_2911dup (p.Asp971fs)
NM_000038.6(APC):c.3224del (p.Tyr1075fs)	rs1765368708
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter)	rs121913331
NM_000038.6(APC):c.3642del (p.Ser1214fs)	rs2149896180
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)	rs121913224
NM_000038.6(APC):c.4145del (p.Leu1382fs)	rs2149907596
NM_000038.6(APC):c.420G>C (p.Glu140Asp)	rs202161017
NM_000038.6(APC):c.423-3T>A	rs587782293
NM_000038.6(APC):c.423-3_423-2del	rs863225354
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly)	rs138367627
NM_000038.6(APC):c.476dup (p.Tyr159Ter)	rs878853451
NM_000038.6(APC):c.503del (p.Arg168fs)	rs2149615791
NM_000038.6(APC):c.531+1G>C	rs876659973
NM_000038.6(APC):c.532-1G>A	rs1554072547
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup)	rs587780602
NM_000038.6(APC):c.645+1G>T	rs863225370
NM_000038.6(APC):c.7079G>A (p.Gly2360Asp)	rs750960862
NM_000038.6(APC):c.7135dup (p.Thr2379fs)
NM_000038.6(APC):c.7300del (p.Arg2434fs)
NM_000038.6(APC):c.7467_7468dup (p.Asp2490fs)	rs1554088383
NM_000038.6(APC):c.7477_7478del (p.Leu2493fs)	rs1554088391
NM_000038.6(APC):c.7489dup (p.Ser2497fs)	rs1409414498
NM_000038.6(APC):c.7511G>A (p.Trp2504Ter)	rs755046558
NM_000038.6(APC):c.7513C>T (p.Arg2505Ter)	rs79630786
NM_000038.6(APC):c.7678C>T (p.Arg2560Ter)	rs1580685528
NM_000038.6(APC):c.7798_7801del (p.Gln2600fs)	rs1561618361
NM_000038.6(APC):c.7928dup (p.Ile2644fs)
NM_000038.6(APC):c.834G>A (p.Gln278=)	rs1060503261
NM_000038.6(APC):c.904C>T (p.Arg302Ter)	rs137854568
NM_000044.6(AR):c.2086G>A (p.Asp696Asn)	rs1555995840
NM_000045.4(ARG1):c.272dup (p.Arg92fs)	rs796051923
NM_000045.4(ARG1):c.2T>C (p.Met1Thr)	rs1554249332
NM_000045.4(ARG1):c.341_344dup (p.Asp117fs)
NM_000045.4(ARG1):c.366G>A (p.Trp122Ter)	rs2114539596
NM_000045.4(ARG1):c.404C>T (p.Thr135Ile)	rs1451472748
NM_000045.4(ARG1):c.466-2A>G	rs1554251045
NM_000045.4(ARG1):c.707dup (p.Asp237fs)
NM_000045.4(ARG1):c.75A>G (p.Glu25=)	rs755973004
NM_000045.4(ARG1):c.913G>A (p.Gly305Arg)	rs866970619
NM_000045.4(ARG1):c.938del (p.Lys313fs)	rs1554251356
NM_000046.5(ARSB):c.1060_1061del (p.Leu354fs)
NM_000046.5(ARSB):c.108_120del (p.Ser37fs)	rs1028653411
NM_000046.5(ARSB):c.1178A>G (p.His393Arg)	rs118203944
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu)	rs200793396
NM_000046.5(ARSB):c.1214-2A>T	rs1554069808
NM_000046.5(ARSB):c.123_139dup (p.Leu47fs)	rs766772376
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter)	rs1355071930
NM_000046.5(ARSB):c.1314G>A (p.Trp438Ter)
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)	rs1057520739
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs)	rs1310996698
NM_000046.5(ARSB):c.157G>A (p.Asp53Asn)	rs1554032217
NM_000046.5(ARSB):c.173del (p.Asn58fs)	rs1180759765
NM_000046.5(ARSB):c.237_243del (p.Val80fs)	rs1554032134
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg)	rs749465732
NM_000046.5(ARSB):c.275C>A (p.Thr92Lys)	rs751010538
NM_000046.5(ARSB):c.312+2T>G
NM_000046.5(ARSB):c.323G>T (p.Gly108Val)	rs768802200
NM_000046.5(ARSB):c.438G>A (p.Trp146Ter)	rs757061042
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln)	rs1196325597
NM_000046.5(ARSB):c.797A>C (p.Tyr266Ser)	rs1554086402
NM_000046.5(ARSB):c.898+1G>A	rs1751669303
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg)	rs779378413
NM_000046.5(ARSB):c.908G>A (p.Gly303Glu)	rs1408739927
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter)	rs891298440
NM_000048.4(ASL):c.111_133del (p.Asp38fs)	rs1554326267
NM_000048.4(ASL):c.1297A>C (p.Ser433Arg)	rs1554328459
NM_000048.4(ASL):c.1300G>T (p.Val434Leu)	rs773071023
NM_000048.4(ASL):c.175G>A (p.Glu59Lys)	rs869312985
NM_000048.4(ASL):c.437G>A (p.Arg146Gln)	rs796051931
NM_000048.4(ASL):c.603-1G>C	rs1584028936
NM_000048.4(ASL):c.614C>T (p.Ala205Val)	rs796051925
NM_000048.4(ASL):c.631_647del (p.Val211fs)	rs1554327181
NM_000048.4(ASL):c.735G>A (p.Trp245Ter)	rs1554327573
NM_000048.4(ASL):c.834-1G>A
NM_000048.4(ASL):c.974T>G (p.Leu325Ter)
NM_000049.4(ASPA):c.101G>A (p.Trp34Ter)	rs2150741763
NM_000049.4(ASPA):c.147dup (p.Pro50fs)	rs1597422432
NM_000049.4(ASPA):c.244dup (p.Met82fs)	rs756198538
NM_000049.4(ASPA):c.245del (p.Met82fs)	rs1057516962
NM_000049.4(ASPA):c.283G>T (p.Glu95Ter)
NM_000049.4(ASPA):c.321_322del (p.Ser108fs)	rs1289890879
NM_000049.4(ASPA):c.427A>T (p.Ile143Phe)	rs199565861
NM_000049.4(ASPA):c.454T>C (p.Cys152Arg)	rs104894548
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys)	rs937670540
NM_000049.4(ASPA):c.541C>A (p.Pro181Thr)	rs786204572
NM_000049.4(ASPA):c.548C>A (p.Pro183His)	rs1555539857
NM_000049.4(ASPA):c.609del (p.Asp204fs)	rs1597439149
NM_000049.4(ASPA):c.71A>G (p.Glu24Gly)	rs104894551
NM_000049.4(ASPA):c.876_879del (p.Glu293fs)	rs766720790
NM_000049.4(ASPA):c.885dup (p.Ala296fs)
NM_000051.3(ATM):c.2839-579_2839-576del	rs587776552
NM_000051.4(ATM):c.-30-1G>T	rs869312754
NM_000051.4(ATM):c.1045_1052del (p.Met349fs)	rs1565375817
NM_000051.4(ATM):c.1076_1096delinsTGTAAGG (p.Glu359_Ile366delinsValTer)
NM_000051.4(ATM):c.1165del (p.Lys388_Ile389insTer)
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer)	rs876659450
NM_000051.4(ATM):c.1333del (p.Gln445fs)	rs1060501701
NM_000051.4(ATM):c.1772dup (p.Asn591fs)	rs1591528248
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro)	rs786203783
NM_000051.4(ATM):c.1898+2T>G	rs587782124
NM_000051.4(ATM):c.1A>C (p.Met1Leu)	rs730881359
NM_000051.4(ATM):c.283C>T (p.Gln95Ter)	rs587781545
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs)	rs1057516446
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)	rs587779834
NM_000051.4(ATM):c.4490T>G (p.Leu1497Ter)
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter)	rs869312755
NM_000051.4(ATM):c.5497-2A>C	rs786203796
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter)	rs754562056
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs)	rs758852420
NM_000051.4(ATM):c.5699_5700del (p.Cys1900fs)
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys)	rs864622251
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)	rs587782554
NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter)	rs1339238483
NM_000051.4(ATM):c.6843C>A (p.Tyr2281Ter)
NM_000051.4(ATM):c.6976-2A>C	rs587782403
NM_000051.4(ATM):c.7517_7520del	rs587781905
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)	rs587776547
NM_000051.4(ATM):c.7694dup (p.Asn2565fs)	rs1591171790
NM_000051.4(ATM):c.7788G>A (p.Glu2596=)	rs587780639
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser)	rs863224440
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)	rs786202800
NM_000051.4(ATM):c.900del (p.Gly301fs)	rs1555067335
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)	rs587780645
NM_000052.7(ATP7A):c.1910C>G (p.Ser637Ter)
NM_000053.4(ATP7B):c.104_105insT (p.Lys35fs)	rs1316032472
NM_000053.4(ATP7B):c.1340_1343del (p.Gln447fs)	rs1057517444
NM_000053.4(ATP7B):c.1374_1377del (p.Val459fs)	rs1060499593
NM_000053.4(ATP7B):c.1512dup (p.Asn505Ter)	rs1057516418
NM_000053.4(ATP7B):c.1543+1G>A
NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu)	rs572122562
NM_000053.4(ATP7B):c.1707+2dup	rs781531824
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer)	rs1057516893
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs)	rs753962912
NM_000053.4(ATP7B):c.1908dup (p.Asn637fs)
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His)	rs72552285
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.2011_2012dup (p.Met671fs)	rs1555291870
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg)	rs121908001
NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys)	rs1212479289
NM_000053.4(ATP7B):c.208C>T (p.Gln70Ter)
NM_000053.4(ATP7B):c.2121+3A>G	rs1248002612
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala)	rs1555291285
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs)	rs768729972
NM_000053.4(ATP7B):c.2279C>T (p.Pro760Leu)	rs766907687
NM_000053.4(ATP7B):c.2303C>T (p.Pro768Leu)	rs1057516844
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly)	rs137853284
NM_000053.4(ATP7B):c.2356-2A>G	rs2139505830
NM_000053.4(ATP7B):c.2513del (p.Lys838fs)	rs777362050
NM_000053.4(ATP7B):c.2697_2723del (p.Ile899_Gln907del)	rs2139201690
NM_000053.4(ATP7B):c.2730+1G>A	rs1057516425
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)	rs121907993
NM_000053.4(ATP7B):c.2784CAT[2] (p.Ile930del)	rs1228359983
NM_000053.4(ATP7B):c.2810del (p.Val937fs)	rs1057516643
NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys)	rs1057517310
NM_000053.4(ATP7B):c.2826_2832del (p.Gly943fs)	rs1555288385
NM_000053.4(ATP7B):c.2866-2del	rs1593681941
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr)	rs1038582488
NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg)	rs199623434
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)	rs775055397
NM_000053.4(ATP7B):c.3029A>C (p.Lys1010Thr)	rs747584649
NM_000053.4(ATP7B):c.3029A>G (p.Lys1010Arg)	rs747584649
NM_000053.4(ATP7B):c.3061-12T>A	rs1045194246
NM_000053.4(ATP7B):c.3062T>A (p.Ile1021Lys)	rs949421614
NM_000053.4(ATP7B):c.3086C>T (p.Thr1029Ile)	rs1555286628
NM_000053.4(ATP7B):c.3088G>A (p.Gly1030Ser)	rs1957518268
NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val)	rs753594031
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.3244-2A>G	rs786204584
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe)	rs1286080173
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg)	rs786204483
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala)	rs1566462533
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His)	rs377297166
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter)	rs1057516479
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala)	rs1387431334
NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter)	rs748924063
NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del)	rs781266802
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met)	rs193922107
NM_000053.4(ATP7B):c.365_366delinsGGGCTTCGAA (p.Glu122fs)
NM_000053.4(ATP7B):c.3662G>A (p.Gly1221Glu)	rs1486594906
NM_000053.4(ATP7B):c.3664del (p.Asp1222fs)	rs886042519
NM_000053.4(ATP7B):c.3833C>T (p.Ala1278Val)	rs1375884723
NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val)	rs1340942427
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe)	rs749472361
NM_000053.4(ATP7B):c.3904-2del	rs1957032734
NM_000053.4(ATP7B):c.3960G>C (p.Arg1320Ser)	rs778732681
NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs)	rs1566441447
NM_000053.4(ATP7B):c.4014T>A (p.Ile1338=)
NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser)	rs587783317
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe)	rs776848753
NM_000053.4(ATP7B):c.4106C>T (p.Ser1369Leu)	rs1555282678
NM_000053.4(ATP7B):c.4112T>C (p.Leu1371Pro)	rs1444841250
NM_000053.4(ATP7B):c.4124+1G>A
NM_000053.4(ATP7B):c.4125-2A>G	rs1555282347
NM_000053.4(ATP7B):c.4195C>T (p.Gln1399Ter)	rs2138407151
NM_000053.4(ATP7B):c.4229G>A (p.Trp1410Ter)
NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs)	rs1555282191
NM_000053.4(ATP7B):c.4339dup (p.Asp1447fs)	rs1345677703
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs)	rs558037268
NM_000053.4(ATP7B):c.528del (p.Ser177fs)	rs2140098691
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)	rs786204570
NM_000053.4(ATP7B):c.804dup (p.Lys269Ter)	rs1952004098
NM_000053.4(ATP7B):c.841del (p.Gln281fs)
NM_000053.4(ATP7B):c.956del (p.Pro319fs)	rs753674382
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)	rs1567040469
NM_000057.4(BLM):c.1221-2A>C	rs1555419779
NM_000057.4(BLM):c.1399dup (p.Asp467fs)	rs1555419862
NM_000057.4(BLM):c.1450A>T (p.Lys484Ter)
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs)	rs746244182
NM_000057.4(BLM):c.1487del (p.Leu496fs)	rs2151158316
NM_000057.4(BLM):c.1544dup (p.Asn515fs)	rs367543043
NM_000057.4(BLM):c.1622del (p.Asn541fs)
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter)	rs1356090839
NM_000057.4(BLM):c.213_214del (p.Ser72fs)	rs960430492
NM_000057.4(BLM):c.2193+1_2193+9del	rs1060500652
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs)	rs1555420602
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer)	rs1555420844
NM_000057.4(BLM):c.2404_2407del (p.Gln802fs)	rs1567045235
NM_000057.4(BLM):c.2406+2T>G	rs367543016
NM_000057.4(BLM):c.2410G>T (p.Gly804Ter)	rs1412341951
NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter)	rs1060503989
NM_000057.4(BLM):c.2851_2857del (p.Met951fs)	rs1309932713
NM_000057.4(BLM):c.298_299del (p.Gln100fs)	rs745807085
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs)	rs1555423753
NM_000057.4(BLM):c.3437_3438del (p.Leu1145_Phe1146insTer)
NM_000057.4(BLM):c.357_358del (p.Cys120fs)	rs748186908
NM_000057.4(BLM):c.3678C>A (p.Cys1226Ter)	rs1897236255
NM_000057.4(BLM):c.3845del (p.Leu1282fs)	rs1897350204
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter)	rs367543031
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer)	rs367543026
NM_000057.4(BLM):c.646G>T (p.Glu216Ter)
NM_000057.4(BLM):c.709del (p.Cys237fs)	rs1217879599
NM_000057.4(BLM):c.75_78del (p.Leu25fs)
NM_000057.4(BLM):c.772_773del (p.Leu258fs)	rs367543013
NM_000057.4(BLM):c.800-2A>G	rs1895690125
NM_000057.4(BLM):c.855del (p.Val286fs)	rs2151149598
NM_000057.4(BLM):c.98+1G>A	rs750293380
NM_000057.4(BLM):c.98+1G>T	rs750293380
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)	rs80359351
NM_000059.4(BRCA2):c.1817_1819delinsTTT (p.Pro606_Lys607delinsLeuTer)	rs587779358
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)	rs80359507
NM_000059.4(BRCA2):c.631+3A>G	rs397507840
NM_000059.4(BRCA2):c.7095T>A (p.His2365Gln)	rs370708814
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg)	rs80359012
NM_000059.4(BRCA2):c.8331+1G>A	rs81002837
NM_000059.4(BRCA2):c.8488-1G>A	rs397507404
NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu)	rs276174926
NM_000059.4(BRCA2):c.9998T>C (p.Leu3333Pro)	rs1555290016
NM_000064.4(C3):c.3343G>A (p.Asp1115Asn)	rs121909585
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu)	rs794727895
NM_000070.3(CAPN3):c.2380+2T>G	rs761935462
NM_000070.3(CAPN3):c.59del (p.Pro20fs)	rs1555417271
NM_000071.3(CBS):c.1145+1G>A
NM_000071.3(CBS):c.1218del (p.Lys406fs)	rs794727083
NM_000071.3(CBS):c.1566del (p.Lys523fs)	rs786204466
NM_000071.3(CBS):c.210-1G>C	rs2146414477
NM_000071.3(CBS):c.262C>T (p.Pro88Ser)	rs2146413970
NM_000071.3(CBS):c.284T>C (p.Ile95Thr)	rs1347662650
NM_000071.3(CBS):c.302T>C (p.Leu101Pro)	rs786204757
NM_000071.3(CBS):c.346G>A (p.Gly116Arg)	rs760214620
NM_000071.3(CBS):c.402del (p.Thr135fs)	rs1057517083
NM_000071.3(CBS):c.434C>T (p.Pro145Leu)	rs121964963
NM_000071.3(CBS):c.457G>A (p.Gly153Arg)	rs745704046
NM_000071.3(CBS):c.481del (p.Arg161fs)	rs2146387904
NM_000071.3(CBS):c.502G>A (p.Val168Met)	rs121964970
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del)	rs794727835
NM_000071.3(CBS):c.580_599del (p.Asn194fs)
NM_000071.3(CBS):c.667-14_667-7del	rs764160782
NM_000071.3(CBS):c.676G>A (p.Ala226Thr)	rs763835246
NM_000071.3(CBS):c.683A>G (p.Asn228Ser)	rs1555874803
NM_000071.3(CBS):c.732_733del (p.Cys244_Asp245delinsTer)
NM_000071.3(CBS):c.738del	rs766453711
NM_000071.3(CBS):c.752T>C (p.Leu251Pro)	rs1176770868
NM_000071.3(CBS):c.808_810del (p.Glu270del)	rs760710691
NM_000071.3(CBS):c.816T>A (p.Cys272Ter)	rs528689432
NM_000071.3(CBS):c.862G>A (p.Ala288Thr)	rs141502207
NM_000071.3(CBS):c.889G>T (p.Glu297Ter)
NM_000071.3(CBS):c.954+1G>A	rs1057517373
NM_000071.3(CBS):c.969G>A (p.Trp323Ter)	rs863223432
NM_000071.3(CBS):c.98del (p.Pro33fs)	rs2146428203
NM_000071.3(CBS):c.992C>A (p.Ala331Glu)	rs777919630
NM_000080.4(CHRNE):c.1108del (p.Arg370fs)	rs1969856640
NM_000080.4(CHRNE):c.115dup (p.Ser39fs)	rs977512223
NM_000080.4(CHRNE):c.1203del (p.Gln402fs)	rs1429181185
NM_000080.4(CHRNE):c.1216_1219+19del	rs760623071
NM_000080.4(CHRNE):c.1220-2A>G	rs1309292778
NM_000080.4(CHRNE):c.1254dup (p.Glu419fs)	rs769945146
NM_000080.4(CHRNE):c.1341G>A (p.Trp447Ter)	rs918839874
NM_000080.4(CHRNE):c.1371del (p.Cys458fs)	rs1597612665
NM_000080.4(CHRNE):c.224G>A (p.Trp75Ter)
NM_000080.4(CHRNE):c.452_454del (p.Glu151del)	rs2151098283
NM_000080.4(CHRNE):c.721C>T (p.Leu241Phe)	rs28999110
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu)	rs759226183
NM_000080.4(CHRNE):c.874C>T (p.Gln292Ter)
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg)	rs370019023
NM_000080.4(CHRNE):c.917G>T (p.Arg306Met)	rs2151096983
NM_000080.4(CHRNE):c.934_936del (p.Met312del)	rs1555546465
NM_000080.4(CHRNE):c.966C>A (p.Cys322Ter)	rs56377005
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln)	rs760022829
NM_000081.4(LYST):c.10127A>G (p.Asn3376Ser)	rs80338669
NM_000081.4(LYST):c.10345C>T (p.Arg3449Ter)	rs754616030
NM_000081.4(LYST):c.192+1G>A
NM_000081.4(LYST):c.2962C>T (p.Arg988Ter)
NM_000081.4(LYST):c.3433del (p.His1145fs)
NM_000081.4(LYST):c.3601del (p.Ser1201fs)
NM_000081.4(LYST):c.3996del (p.Asp1333fs)
NM_000081.4(LYST):c.5491C>T (p.Gln1831Ter)
NM_000081.4(LYST):c.6862C>T (p.Arg2288Ter)
NM_000081.4(LYST):c.7135dup (p.Leu2379fs)
NM_000081.4(LYST):c.8425dup (p.Glu2809fs)
NM_000081.4(LYST):c.9219_9222del (p.Glu3074fs)
NM_000081.4(LYST):c.9245dup (p.Leu3082fs)
NM_000081.4(LYST):c.985C>T (p.Arg329Ter)
NM_000081.4(LYST):c.9874G>T (p.Glu3292Ter)
NM_000081.4(LYST):c.9988del (p.Ala3330fs)
NM_000088.4(COL1A1):c.543G>A (p.Met181Ile)	rs72667022
NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg)	rs1584320605
NM_000090.4(COL3A1):c.3158G>A (p.Gly1053Asp)	rs1576471840
NM_000090.4(COL3A1):c.3496C>T (p.Arg1166Ter)	rs587779646
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter)	rs794728060
NM_000090.4(COL3A1):c.4254G>A (p.Thr1418=)	rs587779565
NM_000090.4(COL3A1):c.953G>A (p.Gly318Asp)	rs1553507614
NM_000093.5(COL5A1):c.3484G>A (p.Gly1162Arg)	rs1838467288
NM_000098.3(CPT2):c.1324dup (p.Thr442fs)	rs1131691330
NM_000098.3(CPT2):c.1569_1570del (p.His523fs)	rs1572385947
NM_000098.3(CPT2):c.1784del (p.Pro595fs)	rs760255368
NM_000098.3(CPT2):c.1810C>T (p.Pro604Ser)	rs1645443275
NM_000098.3(CPT2):c.1816_1817del (p.Val606fs)	rs908749525
NM_000098.3(CPT2):c.1822G>C (p.Asp608His)	rs780286639
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe)	rs515726173
NM_000098.3(CPT2):c.852del (p.Glu285fs)	rs1057517729
NM_000102.4(CYP17A1):c.1117C>A (p.His373Asn)	rs1423560123
NM_000102.4(CYP17A1):c.1117C>G (p.His373Asp)	rs1423560123
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs)	rs556794126
NM_000102.4(CYP17A1):c.157TTC[1] (p.Phe54del)	rs121434319
NM_000104.4(CYP1B1):c.1536_1541del (p.Pro513_Lys514del)	rs751768343
NM_000108.5(DLD):c.1058T>C (p.Ile353Thr)	rs2116271469
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter)	rs747810875
NM_000108.5(DLD):c.105del (p.Thr34_Tyr35insTer)	rs1554396895
NM_000108.5(DLD):c.1214C>A (p.Ser405Ter)
NM_000108.5(DLD):c.1483A>G (p.Arg495Gly)	rs121964989
NM_000108.5(DLD):c.821dup (p.Leu274fs)	rs751883130
NM_000108.5(DLD):c.82dup (p.Ser28fs)
NM_000110.4(DPYD):c.1109_1110del (p.Ile370fs)	rs749571474
NM_000110.4(DPYD):c.1764del (p.Arg589fs)	rs1346124437
NM_000110.4(DPYD):c.2043_2058del (p.Leu682fs)	rs773499329
NM_000110.4(DPYD):c.321+1G>A
NM_000112.4(SLC26A2):c.1806_1809del (p.Thr603fs)	rs1057517530
NM_000112.4(SLC26A2):c.485_486del (p.Val162fs)	rs763198695
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)	rs80358233
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)	rs782507902
NM_000124.4(ERCC6):c.1518del (p.Lys506fs)	rs786205168
NM_000126.4(ETFA):c.203_204del (p.Leu67_Cys68insTer)
NM_000126.4(ETFA):c.284dup (p.Leu95fs)
NM_000126.4(ETFA):c.298_325del (p.Gln100fs)
NM_000126.4(ETFA):c.319_322del (p.His107fs)	rs866218814
NM_000126.4(ETFA):c.495_496del (p.Ser167fs)	rs1298299792
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del)	rs779140971
NM_000126.4(ETFA):c.826_833dup (p.Gly279fs)
NM_000126.4(ETFA):c.963+1del	rs746488455
NM_000132.4(F8):c.1636C>T (p.Arg546Trp)	rs137852416
NM_000135.4(FANCA):c.1007-2A>G	rs2040110878
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)	rs878853660
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter)	rs752864343
NM_000135.4(FANCA):c.1287del (p.Ala430fs)
NM_000135.4(FANCA):c.1304G>A (p.Arg435His)	rs1060501879
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu)	rs1060501879
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg)	rs2040074214
NM_000135.4(FANCA):c.1470+2T>C	rs2039844134
NM_000135.4(FANCA):c.1475A>G (p.His492Arg)	rs925457555
NM_000135.4(FANCA):c.1567-20A>G	rs775154397
NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter)	rs769047348
NM_000135.4(FANCA):c.1827-2A>G	rs2143393518
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs)	rs2041095238
NM_000135.4(FANCA):c.187G>T (p.Glu63Ter)
NM_000135.4(FANCA):c.1901-3C>A	rs17226526
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter)	rs17232973
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del)	rs1567618907
NM_000135.4(FANCA):c.2222+1G>T	rs775388912
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro)	rs137913973
NM_000135.4(FANCA):c.2316+1_2316+3del	rs2039275264
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter)	rs1247378731
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter)	rs1452688134
NM_000135.4(FANCA):c.2602-2A>C	rs1555545592
NM_000135.4(FANCA):c.2604_2609del
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln)	rs1017086086
NM_000135.4(FANCA):c.275C>A (p.Ser92Ter)	rs1183559927
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs)	rs1555545421
NM_000135.4(FANCA):c.2778+2T>C	rs1458001028
NM_000135.4(FANCA):c.2778+83C>G	rs750997715
NM_000135.4(FANCA):c.283+1G>A	rs1232171121
NM_000135.4(FANCA):c.2839dup (p.Ser947fs)	rs756367276
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)	rs755546887
NM_000135.4(FANCA):c.2852+1dup
NM_000135.4(FANCA):c.2853-15_2856del	rs1285346388
NM_000135.4(FANCA):c.306del (p.Ser103fs)
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs)	rs1405317971
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer)	rs2143139166
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)	rs753063086
NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln)	rs1429943036
NM_000135.4(FANCA):c.3239+1dup	rs766989857
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln)	rs1555538571
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del)	rs786204246
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser)	rs545772434
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter)	rs1390620949
NM_000135.4(FANCA):c.3627-1G>A	rs2062172440
NM_000135.4(FANCA):c.3627-3_3627-2del	rs2062172458
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)	rs139160837
NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del)	rs1183256870
NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer)	rs587778319
NM_000135.4(FANCA):c.3828+1G>A	rs1432988639
NM_000135.4(FANCA):c.3919_3923dup (p.Leu1308fs)	rs2151714613
NM_000135.4(FANCA):c.3929_3932del (p.Glu1310fs)
NM_000135.4(FANCA):c.3934+2T>C	rs771775516
NM_000135.4(FANCA):c.3973del (p.Asp1325fs)	rs2151712879
NM_000135.4(FANCA):c.4010+1_4010+18del	rs752457319
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter)	rs940187828
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter)	rs2040853392
NM_000135.4(FANCA):c.426+1G>A	rs1343463467
NM_000135.4(FANCA):c.4260+1dup	rs1555532944
NM_000135.4(FANCA):c.4261-2A>C	rs915983602
NM_000135.4(FANCA):c.4261-2A>G	rs915983602
NM_000135.4(FANCA):c.4275del (p.Asp1427fs)	rs1598048941
NM_000135.4(FANCA):c.709+5G>T	rs759877008
NM_000135.4(FANCA):c.710-10G>A	rs2040524006
NM_000135.4(FANCA):c.827-1G>T	rs753728435
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter)	rs2041102320
NM_000135.4(FANCA):c.916_917del (p.Thr306fs)	rs764122657
NM_000135.4(FANCA):c.987_990del (p.His330fs)	rs772359099
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)	rs759900071
NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter)	rs2071939263
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter)	rs1057516298
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)	rs370974124
NM_000136.3(FANCC):c.346-1G>A	rs1484503633
NM_000136.3(FANCC):c.455dup (p.Asn152fs)	rs774170058
NM_000136.3(FANCC):c.487_490del (p.Glu163fs)	rs730881708
NM_000136.3(FANCC):c.489_490del (p.Asn164fs)	rs730881708
NM_000136.3(FANCC):c.8_9del (p.Gln3fs)	rs1831183107
NM_000137.4(FAH):c.1097_1099del (p.Ser366del)
NM_000137.4(FAH):c.1141A>G (p.Arg381Gly)	rs121965077
NM_000137.4(FAH):c.1203C>G (p.Tyr401Ter)
NM_000137.4(FAH):c.122T>C (p.Leu41Pro)	rs2041114940
NM_000137.4(FAH):c.192+1G>T	rs786204683
NM_000137.4(FAH):c.424A>G (p.Arg142Gly)	rs1420414848
NM_000137.4(FAH):c.455G>A (p.Trp152Ter)	rs1057516679
NM_000137.4(FAH):c.456G>A (p.Trp152Ter)	rs370686447
NM_000137.4(FAH):c.520C>T (p.Arg174Ter)	rs781496816
NM_000137.4(FAH):c.607-1G>A	rs771712041
NM_000137.4(FAH):c.615dup (p.Val206fs)	rs1057517084
NM_000137.4(FAH):c.726G>A (p.Trp242Ter)	rs1567118987
NM_000137.4(FAH):c.72_81dup (p.Pro28fs)
NM_000137.4(FAH):c.744del (p.Pro249fs)	rs750741137
NM_000137.4(FAH):c.745C>A (p.Pro249Thr)
NM_000137.4(FAH):c.82-1G>A	rs1247460110
NM_000137.4(FAH):c.879C>A (p.Tyr293Ter)
NM_000137.4(FAH):c.974C>T (p.Thr325Met)	rs770713168
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys)	rs121913485
NM_000143.4(FH):c.1390+1G>T	rs886039367
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)	rs367543046
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser)	rs80356482
NM_000151.4(G6PC1):c.59A>G (p.Gln20Arg)	rs2056021410
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter)	rs780226142
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser)	rs886042960
NM_000152.5(GAA):c.1051del (p.Val351fs)	rs786204507
NM_000152.5(GAA):c.1076-2A>G	rs1057516290
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)	rs1555600061
NM_000152.5(GAA):c.1115A>T (p.His372Leu)	rs1057516520
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)	rs142752477
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs)	rs786204646
NM_000152.5(GAA):c.1143del (p.Ala382fs)	rs757458607
NM_000152.5(GAA):c.1193del (p.Leu398fs)	rs1057517286
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn)	rs535644999
NM_000152.5(GAA):c.1377dup (p.Glu460fs)	rs2039192386
NM_000152.5(GAA):c.1408_1410del (p.Asn470del)	rs748893499
NM_000152.5(GAA):c.1437+1G>A	rs1555600575
NM_000152.5(GAA):c.1438-1G>C	rs147804176
NM_000152.5(GAA):c.1438-1G>T	rs147804176
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)	rs2039212985
NM_000152.5(GAA):c.1555A>G (p.Met519Val)	rs1598581919
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala)	rs892129065
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs)	rs1291214871
NM_000152.5(GAA):c.1650dup (p.Thr551fs)	rs766398206
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)	rs747150965
NM_000152.5(GAA):c.169C>T (p.Gln57Ter)	rs1057516251
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys)	rs1428112902
NM_000152.5(GAA):c.1781G>A (p.Arg594His)	rs775450536
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp)	rs374470794
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)	rs1057517105
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys)	rs369531647
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)	rs369531647
NM_000152.5(GAA):c.1844G>A (p.Gly615Glu)	rs1243515778
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg)	rs914396317
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe)	rs1024137874
NM_000152.5(GAA):c.1888+1G>A	rs776325453
NM_000152.5(GAA):c.1930_1936dup (p.Val646fs)	rs748829376
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn)	rs368438393
NM_000152.5(GAA):c.1933G>C (p.Asp645His)	rs368438393
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr)	rs368438393
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs)	rs1567835781
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del)	rs786204621
NM_000152.5(GAA):c.2040+2T>G
NM_000152.5(GAA):c.2041-1G>A	rs760731229
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer)	rs2039287852
NM_000152.5(GAA):c.2095dup (p.Leu699fs)	rs2143895928
NM_000152.5(GAA):c.2122del (p.His708fs)
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs)	rs1555601780
NM_000152.5(GAA):c.2140del (p.His714fs)	rs786204549
NM_000152.5(GAA):c.2167G>A (p.Val723Met)	rs767247397
NM_000152.5(GAA):c.2185del (p.Leu729fs)	rs1057516581
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter)	rs1057516327
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter)	rs1057516277
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg)	rs1567838823
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)	rs1479740763
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)	rs752921215
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter)	rs1800312
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)	rs1800312
NM_000152.5(GAA):c.2242G>T (p.Glu748Ter)	rs1057516363
NM_000152.5(GAA):c.2242del (p.Glu748fs)	rs777275355
NM_000152.5(GAA):c.2242dup (p.Glu748fs)	rs777275355
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs)	rs1057516924
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser)	rs144016984
NM_000152.5(GAA):c.2544del (p.Lys849fs)	rs398123173
NM_000152.5(GAA):c.258del (p.Asn87fs)	rs761317813
NM_000152.5(GAA):c.276C>A (p.Cys92Ter)	rs1232001857
NM_000152.5(GAA):c.2815_2816del (p.Val939fs)	rs763359208
NM_000152.5(GAA):c.361C>T (p.Gln121Ter)	rs750668627
NM_000152.5(GAA):c.437del (p.Met146fs)	rs1555598869
NM_000152.5(GAA):c.546+5G>T	rs756024023
NM_000152.5(GAA):c.546G>C (p.Thr182=)	rs143523371
NM_000152.5(GAA):c.546G>T (p.Thr182=)	rs143523371
NM_000152.5(GAA):c.569G>A (p.Arg190His)	rs528367092
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter)	rs376229714
NM_000152.5(GAA):c.692+2T>C	rs1555599171
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs)	rs786204532
NM_000152.5(GAA):c.796C>T (p.Pro266Ser)	rs1555599667
NM_000152.5(GAA):c.859-2A>G	rs2143848897
NM_000152.5(GAA):c.989G>A (p.Trp330Ter)	rs1555599960
NM_000153.4(GALC):c.680A>G (p.Asp227Gly)	rs1886495923
NM_000153.4(GALC):c.7dup (p.Glu3fs)	rs1555384381
NM_000154.2(GALK1):c.1083_1096delinsATG (p.Pro362fs)	rs2061563475
NM_000154.2(GALK1):c.130C>T (p.His44Tyr)	rs1555748926
NM_000154.2(GALK1):c.265C>T (p.Gln89Ter)	rs2143605190
NM_000154.2(GALK1):c.364del (p.Leu122fs)	rs2061596711
NM_000154.2(GALK1):c.410del (p.Gly137fs)	rs767329054
NM_000154.2(GALK1):c.410dup (p.Gly138fs)	rs767329054
NM_000154.2(GALK1):c.514C>T (p.Gln172Ter)	rs767799179
NM_000154.2(GALK1):c.708C>A (p.Tyr236Ter)
NM_000154.2(GALK1):c.793+2T>G
NM_000154.2(GALK1):c.853_874del (p.Ile285fs)	rs770087254
NM_000155.4(GALT):c.1052del (p.Pro351fs)	rs111033813
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter)	rs111033818
NM_000155.4(GALT):c.152G>T (p.Arg51Leu)	rs111033648
NM_000155.4(GALT):c.18del (p.Asp7fs)	rs111033638
NM_000155.4(GALT):c.213dup (p.Asn72fs)
NM_000155.4(GALT):c.221T>C (p.Leu74Pro)	rs111033663
NM_000155.4(GALT):c.267C>G (p.Tyr89Ter)
NM_000155.4(GALT):c.290A>G (p.Asn97Ser)	rs111033669
NM_000155.4(GALT):c.292G>C (p.Asp98His)	rs111033670
NM_000155.4(GALT):c.368G>A (p.Arg123Gln)	rs111033675
NM_000155.4(GALT):c.404C>G (p.Ser135Trp)	rs111033690
NM_000155.4(GALT):c.428C>T (p.Ser143Leu)	rs111033697
NM_000155.4(GALT):c.502G>T (p.Val168Leu)	rs367543258
NM_000155.4(GALT):c.513del (p.Phe171fs)	rs886044409
NM_000155.4(GALT):c.552C>A (p.His184Gln)	rs111033717
NM_000155.4(GALT):c.598del (p.Gln200fs)	rs111033738
NM_000155.4(GALT):c.626A>C (p.Tyr209Ser)	rs111033744
NM_000155.4(GALT):c.634C>T (p.Gln212Ter)	rs111033746
NM_000155.4(GALT):c.667C>A (p.Arg223Ser)	rs111033750
NM_000155.4(GALT):c.719_728del (p.Leu240fs)	rs111033838
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)	rs886042070
NM_000155.4(GALT):c.815G>A (p.Arg272His)	rs111033831
NM_000155.4(GALT):c.904+1G>T	rs367543271
NM_000155.4(GALT):c.957C>A (p.His319Gln)	rs111033792
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)	rs111033800
NM_000156.6(GAMT):c.274A>G (p.Asn92Asp)
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp)	rs760101382
NM_000156.6(GAMT):c.526del (p.Glu176fs)	rs2144636246
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	rs421016
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)	rs421016
NM_000158.4(GBE1):c.1053del (p.Phe351fs)
NM_000158.4(GBE1):c.1336-1G>A	rs375253942
NM_000158.4(GBE1):c.143+1G>A	rs397515343
NM_000158.4(GBE1):c.143+2T>C	rs2107250439
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys)	rs80338672
NM_000158.4(GBE1):c.167del (p.Ile55_Leu56insTer)
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer)	rs1367364158
NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter)	rs201029706
NM_000158.4(GBE1):c.1825G>T (p.Glu609Ter)	rs772802187
NM_000158.4(GBE1):c.2052+1G>A	rs2106809795
NM_000158.4(GBE1):c.321G>A (p.Trp107Ter)	rs2107114808
NM_000158.4(GBE1):c.336C>A (p.Tyr112Ter)	rs773473771
NM_000158.4(GBE1):c.47del (p.Ala16fs)	rs2107250805
NM_000158.4(GBE1):c.480G>A (p.Trp160Ter)	rs776943352
NM_000158.4(GBE1):c.691+5G>C	rs397515344
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu)	rs754525424
NM_000158.4(GBE1):c.909_912del (p.Phe303fs)	rs2107059544
NM_000158.4(GBE1):c.992+2T>G	rs772349876
NM_000159.4(GCDH):c.1082+2T>C	rs2145954110
NM_000159.4(GCDH):c.1169G>T (p.Gly390Val)	rs778153326
NM_000159.4(GCDH):c.1173del (p.Asn392fs)	rs754002357
NM_000159.4(GCDH):c.1173dup (p.Asn392fs)	rs754002357
NM_000159.4(GCDH):c.1175A>G (p.Asn392Ser)	rs2145955095
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln)	rs786204626
NM_000159.4(GCDH):c.1228G>A (p.Val410Met)	rs760155287
NM_000159.4(GCDH):c.1244-2A>G	rs199999619
NM_000159.4(GCDH):c.1298C>A (p.Ala433Glu)	rs933624223
NM_000159.4(GCDH):c.148T>C (p.Trp50Arg)
NM_000159.4(GCDH):c.172G>T (p.Glu58Ter)	rs1006150317
NM_000159.4(GCDH):c.192G>T (p.Glu64Asp)	rs1555749239
NM_000159.4(GCDH):c.219del (p.Tyr74fs)	rs1057516521
NM_000159.4(GCDH):c.262C>A (p.Arg88Ser)	rs142967670
NM_000159.4(GCDH):c.263G>A (p.Arg88His)	rs1970568682
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)	rs566417795
NM_000159.4(GCDH):c.281G>T (p.Arg94Leu)	rs566417795
NM_000159.4(GCDH):c.301G>A (p.Gly101Arg)	rs1273164833
NM_000159.4(GCDH):c.329_332del (p.Ile110fs)	rs1555749434
NM_000159.4(GCDH):c.337T>C (p.Tyr113His)	rs1555749853
NM_000159.4(GCDH):c.345_349del (p.Cys115fs)
NM_000159.4(GCDH):c.416C>G (p.Ser139Trp)	rs139851890
NM_000159.4(GCDH):c.442G>A (p.Val148Ile)
NM_000159.4(GCDH):c.464A>G (p.Tyr155Cys)
NM_000159.4(GCDH):c.566G>C (p.Ser189Thr)	rs764774411
NM_000159.4(GCDH):c.655G>A (p.Ala219Thr)	rs1970675055
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter)	rs786205862
NM_000159.4(GCDH):c.683G>T (p.Cys228Phe)	rs1970675873
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp)	rs964724051
NM_000159.4(GCDH):c.79del (p.Ala27fs)	rs1057516939
NM_000159.4(GCDH):c.853-2A>G	rs1057517410
NM_000159.4(GCDH):c.885C>A (p.Tyr295Ter)	rs139192015
NM_000159.4(GCDH):c.901G>A (p.Val301Met)
NM_000159.4(GCDH):c.91+5G>A	rs952356983
NM_000159.4(GCDH):c.932dup (p.Ala312fs)	rs1970695925
NM_000162.5(GCK):c.391T>C (p.Ser131Pro)	rs104894010
NM_000169.3(GLA):c.886A>G (p.Met296Val)	rs104894830
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)	rs121964976
NM_000170.3(GLDC):c.2293C>T (p.Pro765Ser)	rs386833551
NM_000170.3(GLDC):c.793del (p.Gln265fs)	rs386833586
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)	rs267608122
NM_000182.5(HADHA):c.1086-3_1092del	rs1057516460
NM_000182.5(HADHA):c.180+1G>A	rs786205088
NM_000182.5(HADHA):c.1844dup (p.Asn615fs)
NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer)	rs779113356
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs)	rs749848370
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs)	rs868816467
NM_000182.5(HADHA):c.274_278del (p.Ser92fs)	rs781205883
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp)	rs786204607
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter)	rs137852775
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn)	rs137852774
NM_000183.3(HADHB):c.1389+5G>A
NM_000183.3(HADHB):c.198_205dup (p.Thr69fs)
NM_000183.3(HADHB):c.607C>T (p.Arg203Ter)
NM_000183.3(HADHB):c.811+82A>G
NM_000183.3(HADHB):c.881C>G (p.Pro294Arg)	rs1558357879
NM_000183.3(HADHB):c.962del (p.Met321fs)
NM_000188.3(HK1):c.1370C>T (p.Thr457Met)	rs1057517928
NM_000190.4(HMBS):c.826-2A>T	rs1946317952
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs)	rs752137615
NM_000191.3(HMGCL):c.252+1G>A	rs775218067
NM_000191.3(HMGCL):c.286del (p.Gln96fs)	rs1184002840
NM_000191.3(HMGCL):c.349_361del
NM_000191.3(HMGCL):c.501C>A (p.Tyr167Ter)	rs200189529
NM_000191.3(HMGCL):c.528T>A (p.Tyr176Ter)	rs112508527
NM_000191.3(HMGCL):c.610del (p.Asp204fs)	rs2148419170
NM_000191.3(HMGCL):c.704_705dup (p.Asp236fs)
NM_000191.3(HMGCL):c.866del (p.Gly289fs)
NM_000195.5(HPS1):c.1189del (p.Gln397fs)	rs281865084
NM_000195.5(HPS1):c.1657C>T (p.Gln553Ter)	rs1591031929
NM_000195.5(HPS1):c.233_242del (p.Asn78fs)	rs773323079
NM_000195.5(HPS1):c.780dup (p.Arg261fs)	rs2136197089
NM_000199.5(SGSH):c.1091_1103del (p.Ser364fs)	rs1567915763
NM_000199.5(SGSH):c.1130G>A (p.Arg377His)	rs746037899
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg)	rs398123244
NM_000199.5(SGSH):c.1375C>T (p.Gln459Ter)	rs1567914459
NM_000199.5(SGSH):c.1380del (p.Leu461fs)	rs1555620092
NM_000199.5(SGSH):c.221G>A (p.Arg74His)	rs778336949
NM_000199.5(SGSH):c.235A>C (p.Thr79Pro)	rs779703983
NM_000199.5(SGSH):c.466A>T (p.Lys156Ter)	rs2041818115
NM_000199.5(SGSH):c.490C>T (p.Gln164Ter)	rs1598749661
NM_000199.5(SGSH):c.506+1G>A	rs763063355
NM_000199.5(SGSH):c.535G>A (p.Asp179Asn)
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro)	rs104894643
NM_000199.5(SGSH):c.645C>A (p.Tyr215Ter)
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu)	rs34520362
NM_000199.5(SGSH):c.691_698del (p.Ala231fs)
NM_000199.5(SGSH):c.693_705del (p.Ala232fs)	rs2041772144
NM_000199.5(SGSH):c.745+1G>C	rs748525651
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg)	rs765361603
NM_000199.5(SGSH):c.909del (p.Lys303fs)	rs775136193
NM_000199.5(SGSH):c.949+1G>A
NM_000202.8(IDS):c.404A>G (p.Lys135Arg)	rs104894861
NM_000202.8(IDS):c.575C>G (p.Pro192Arg)
NM_000218.3(KCNQ1):c.1051T>C (p.Phe351Leu)	rs779383393
NM_000228.3(LAMB3):c.2842del (p.Val948fs)	rs772421306
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro)	rs781760379
NM_000231.3(SGCG):c.195+4_195+7del	rs797045106
NM_000231.3(SGCG):c.260T>G (p.Leu87Ter)
NM_000231.3(SGCG):c.298-2A>G
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter)	rs1881865054
NM_000231.3(SGCG):c.800_801del (p.Cys267fs)	rs780348174
NM_000231.3(SGCG):c.801_802del (p.Pro268fs)	rs2137534216
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)	rs104894422
NM_000231.3(SGCG):c.92G>A (p.Trp31Ter)
NM_000232.5(SGCB):c.-10_16dup (p.Ala6fs)
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs)	rs1553940963
NM_000232.5(SGCB):c.-15_8dup (p.Ala5fs)
NM_000232.5(SGCB):c.102del (p.Glu35fs)	rs2109376007
NM_000232.5(SGCB):c.165_166del (p.Gly56fs)
NM_000232.5(SGCB):c.243+3_243+6del	rs1553940660
NM_000232.5(SGCB):c.299T>A (p.Met100Lys)	rs104893871
NM_000232.5(SGCB):c.29_33del (p.Glu10fs)	rs1057517064
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter)	rs750773622
NM_000232.5(SGCB):c.391C>T (p.Arg131Ter)	rs1013015106
NM_000232.5(SGCB):c.656_657del (p.Lys219fs)	rs775458201
NM_000232.5(SGCB):c.82G>T (p.Glu28Ter)	rs771814273
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	rs61732874
NM_000249.4(MLH1):c.1038G>A (p.Gln346=)	rs63751715
NM_000249.4(MLH1):c.1409+1G>A	rs267607825
NM_000249.4(MLH1):c.1502_1503delinsA (p.Ile501fs)	rs1553653084
NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn)	rs63751596
NM_000249.4(MLH1):c.1740_1753del (p.Pro581fs)	rs1553662622
NM_000249.4(MLH1):c.1841_1842del (p.Phe614fs)
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)	rs63751247
NM_000249.4(MLH1):c.1858del (p.Glu620fs)	rs786203456
NM_000249.4(MLH1):c.1897-2A>G	rs267607871
NM_000249.4(MLH1):c.193_201delinsC (p.Gly65fs)
NM_000249.4(MLH1):c.1989+5G>T	rs267607878
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)	rs63750206
NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg)	rs63750809
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)	rs63750217
NM_000249.4(MLH1):c.2070_2071insTT (p.Ile691fs)	rs876659681
NM_000249.4(MLH1):c.2159T>G (p.Val720Gly)	rs587778985
NM_000249.4(MLH1):c.2187_2190dup (p.Pro731fs)
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr)	rs63750437
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)	rs63750453
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp)	rs63751665
NM_000249.4(MLH1):c.350C>T (p.Thr117Met)	rs63750781
NM_000249.4(MLH1):c.366_369del (p.Lys123fs)
NM_000249.4(MLH1):c.380+2T>C	rs267607742
NM_000249.4(MLH1):c.393del (p.Asp132fs)	rs2081922847
NM_000249.4(MLH1):c.404_407del (p.Leu135fs)	rs587779014
NM_000249.4(MLH1):c.677+3A>T	rs267607780
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu)	rs63751711
NM_000249.4(MLH1):c.790+4A>G	rs267607786
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser)	rs63751194
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)	rs63751194
NM_000249.4(MLH1):c.884+4A>G	rs267607777
NM_000249.4(MLH1):c.927dup (p.Thr310fs)	rs1553647995
NM_000249.4(MLH1):c.931A>G (p.Lys311Glu)	rs876658657
NM_000249.4(MLH1):c.986A>C (p.His329Pro)	rs63750710
NM_000249.4(MLH1):c.9_21del (p.Phe3fs)	rs1064795341
NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg)	rs63751004
NM_000251.3(MSH2):c.1023del (p.Val342fs)	rs864622340
NM_000251.3(MSH2):c.1042del (p.Gln348fs)	rs1553353233
NM_000251.3(MSH2):c.1046C>T (p.Pro349Leu)	rs587779067
NM_000251.3(MSH2):c.1139T>G (p.Leu380Ter)	rs730881755
NM_000251.3(MSH2):c.1276+2T>C	rs267607953
NM_000251.3(MSH2):c.1339_1340del (p.Phe447fs)	rs1553361231
NM_000251.3(MSH2):c.1401del (p.Glu467fs)	rs1553365711
NM_000251.3(MSH2):c.1510+2T>C	rs1060502023
NM_000251.3(MSH2):c.1511-2A>G	rs267607962
NM_000251.3(MSH2):c.1563T>A (p.Tyr521Ter)	rs63750330
NM_000251.3(MSH2):c.1613dup (p.Asn538fs)
NM_000251.3(MSH2):c.1706A>G (p.Glu569Gly)	rs786201077
NM_000251.3(MSH2):c.2006-2A>G	rs267607991
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)	rs587782659
NM_000251.3(MSH2):c.2251G>A (p.Gly751Arg)	rs63751119
NM_000251.3(MSH2):c.2288C>T (p.Ala763Val)	rs144412585
NM_000251.3(MSH2):c.2342del (p.Ala781fs)
NM_000251.3(MSH2):c.2365del (p.Ala789fs)
NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter)	rs202145681
NM_000251.3(MSH2):c.2634+5G>C	rs267608017
NM_000251.3(MSH2):c.2635-1G>A	rs267608020
NM_000251.3(MSH2):c.2726A>T (p.Lys909Ile)	rs34319539
NM_000251.3(MSH2):c.388C>T (p.Gln130Ter)	rs1060501989
NM_000251.3(MSH2):c.403C>T (p.Leu135Phe)	rs193096019
NM_000251.3(MSH2):c.448_449del (p.Gly149_Val150insTer)
NM_000251.3(MSH2):c.748G>T (p.Gly250Ter)	rs864622183
NM_000251.3(MSH2):c.870_874del (p.Glu290fs)	rs1114167848
NM_000251.3(MSH2):c.888C>G (p.Phe296Leu)	rs876659918
NM_000251.3(MSH2):c.89C>T (p.Pro30Leu)	rs757892928
NM_000251.3(MSH2):c.942+3A>C	rs193922376
NM_000251.3(MSH2):c.965G>T (p.Gly322Val)	rs4987188
NM_000252.3(MTM1):c.1261-10A>G	rs397518445
NM_000256.3(MYBPC3):c.3330+5G>C	rs373746463
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)	rs730880674
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro)	rs187705120
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs)	rs111033347
NM_000270.4(PNP):c.286-18G>A	rs1026474882
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe)	rs145362908
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter)	rs786204512
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)	rs80358254
NM_000271.5(NPC1):c.839del (p.Leu280fs)	rs1057518711
NM_000274.4(OAT):c.152G>A (p.Gly51Asp)
NM_000274.4(OAT):c.159del (p.His53fs)	rs386833599
NM_000274.4(OAT):c.182_189del (p.Ala61fs)
NM_000274.4(OAT):c.192_193del (p.Gly65fs)	rs386833600
NM_000274.4(OAT):c.198del (p.Gly67fs)	rs1432416419
NM_000274.4(OAT):c.272G>A (p.Gly91Glu)	rs386833603
NM_000274.4(OAT):c.461G>T (p.Arg154Leu)	rs121965039
NM_000274.4(OAT):c.515_516del (p.Phe172fs)	rs2134476898
NM_000274.4(OAT):c.533_537del (p.Phe177_Trp178insTer)	rs386833612
NM_000274.4(OAT):c.542C>T (p.Thr181Met)	rs386833613
NM_000274.4(OAT):c.710G>A (p.Gly237Asp)	rs386833616
NM_000274.4(OAT):c.780del (p.Phe260fs)	rs2134456707
NM_000274.4(OAT):c.824G>A (p.Trp275Ter)	rs267606924
NM_000274.4(OAT):c.896dup (p.Tyr299Ter)	rs2134456170
NM_000274.4(OAT):c.952del (p.Glu318fs)	rs386833620
NM_000274.4(OAT):c.966del (p.Tyr323fs)	rs1951417940
NM_000274.4(OAT):c.97dup (p.Thr33fs)	rs1375779674
NM_000274.4(OAT):c.994G>A (p.Val332Met)	rs121965047
NM_000275.3(OCA2):c.1349C>A (p.Thr450Lys)
NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg)	rs779850564
NM_000275.3(OCA2):c.163dup (p.Ala55fs)
NM_000275.3(OCA2):c.1714C>T (p.Arg572Cys)
NM_000275.3(OCA2):c.173_176dup (p.Ser59fs)
NM_000275.3(OCA2):c.1911_1914del (p.Phe638fs)
NM_000275.3(OCA2):c.1922C>T (p.Ser641Leu)	rs868238523
NM_000275.3(OCA2):c.2338+2T>G	rs1064796956
NM_000275.3(OCA2):c.287A>C (p.Glu96Ala)
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)	rs767489236
NM_000275.3(OCA2):c.74_78del (p.Pro25fs)	rs747408689
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal)	rs797044784
NM_000275.3(OCA2):c.831T>A (p.Tyr277Ter)	rs759876062
NM_000277.2(PAH):c.169_171delGAG	rs199475665
NM_000277.3(PAH):c.1002C>A (p.Cys334Ter)
NM_000277.3(PAH):c.1031G>A (p.Gly344Asp)	rs62508582
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr)	rs62516062
NM_000277.3(PAH):c.1054G>T (p.Gly352Cys)	rs62508686
NM_000277.3(PAH):c.1065+1G>T	rs62516147
NM_000277.3(PAH):c.1065+241C>A	rs2136636327
NM_000277.3(PAH):c.1066-13T>G	rs1435691439
NM_000277.3(PAH):c.1066-14C>G	rs62507334
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe)	rs376480977
NM_000277.3(PAH):c.1089del (p.Lys363fs)	rs5030654
NM_000277.3(PAH):c.1097C>A (p.Pro366His)	rs62516098
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly)	rs1592947508
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del)	rs199475565
NM_000277.3(PAH):c.1159T>C (p.Tyr387His)	rs62517194
NM_000277.3(PAH):c.1187A>G (p.Lys396Arg)	rs776178623
NM_000277.3(PAH):c.1199+1G>A	rs62509015
NM_000277.3(PAH):c.1199+1G>C	rs62509015
NM_000277.3(PAH):c.124_126del (p.Lys42del)	rs1555209578
NM_000277.3(PAH):c.1262T>C (p.Ile421Thr)	rs199475696
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp)	rs199475659
NM_000277.3(PAH):c.1315+2T>C	rs1799970
NM_000277.3(PAH):c.1315+4A>G	rs62508649
NM_000277.3(PAH):c.1315+6T>A	rs62508650
NM_000277.3(PAH):c.1357_*2del (p.Ter453ProextTer?)	rs794727086
NM_000277.3(PAH):c.155T>C (p.Leu52Ser)	rs199475630
NM_000277.3(PAH):c.168+1G>A	rs62514898
NM_000277.3(PAH):c.183C>A (p.Asn61Lys)	rs199475634
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del)	rs62508727
NM_000277.3(PAH):c.293T>C (p.Leu98Ser)	rs62517167
NM_000277.3(PAH):c.301G>A (p.Asp101Asn)	rs1555207979
NM_000277.3(PAH):c.352+1G>A	rs199475684
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)	rs398123292
NM_000277.3(PAH):c.357del (p.Trp120fs)	rs794727619
NM_000277.3(PAH):c.385G>T (p.Asp129Tyr)	rs199475606
NM_000277.3(PAH):c.439C>T (p.Pro147Ser)	rs199475624
NM_000277.3(PAH):c.441+3G>C	rs62508642
NM_000277.3(PAH):c.441+6T>A	rs199475698
NM_000277.3(PAH):c.460T>C (p.Tyr154His)	rs199475587
NM_000277.3(PAH):c.462C>A (p.Tyr154Ter)	rs1191473722
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer)	rs62642906
NM_000277.3(PAH):c.500A>T (p.Asn167Ile)	rs77554925
NM_000277.3(PAH):c.510-2A>G	rs1555204750
NM_000277.3(PAH):c.510T>A (p.His170Gln)	rs199475652
NM_000277.3(PAH):c.527G>A (p.Arg176Gln)	rs74486803
NM_000277.3(PAH):c.527G>T (p.Arg176Leu)	rs74486803
NM_000277.3(PAH):c.529G>A (p.Val177Met)	rs199475602
NM_000277.3(PAH):c.529G>C (p.Val177Leu)	rs199475602
NM_000277.3(PAH):c.556del (p.Thr186fs)	rs62507328
NM_000277.3(PAH):c.561G>C (p.Trp187Cys)	rs62507336
NM_000277.3(PAH):c.563G>A (p.Gly188Asp)	rs199475689
NM_000277.3(PAH):c.591G>C (p.Leu197Phe)	rs281865442
NM_000277.3(PAH):c.592_613del (p.Tyr198fs)	rs199475697
NM_000277.3(PAH):c.601C>T (p.His201Tyr)	rs62517205
NM_000277.3(PAH):c.610dup (p.Tyr204fs)	rs1555204711
NM_000277.3(PAH):c.632C>T (p.Pro211Leu)	rs281865443
NM_000277.3(PAH):c.635T>C (p.Leu212Pro)	rs62517198
NM_000277.3(PAH):c.638T>C (p.Leu213Pro)	rs62516109
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer)	rs62514936
NM_000277.3(PAH):c.671T>C (p.Ile224Thr)	rs62507323
NM_000277.3(PAH):c.707-12_711del	rs1555204492
NM_000277.3(PAH):c.722G>T (p.Arg241Leu)	rs62508730
NM_000277.3(PAH):c.722del (p.Arg241fs)	rs199475657
NM_000277.3(PAH):c.724C>T (p.Leu242Phe)	rs199475578
NM_000277.3(PAH):c.733G>C (p.Val245Leu)	rs62508694
NM_000277.3(PAH):c.740G>A (p.Gly247Asp)	rs199475579
NM_000277.3(PAH):c.740G>T (p.Gly247Val)	rs199475579
NM_000277.3(PAH):c.745del (p.Leu249fs)	rs1057516914
NM_000277.3(PAH):c.754C>G (p.Arg252Gly)	rs5030847
NM_000277.3(PAH):c.805A>C (p.Ile269Leu)	rs62508692
NM_000277.3(PAH):c.827T>C (p.Met276Thr)
NM_000277.3(PAH):c.827T>G (p.Met276Arg)	rs62508722
NM_000277.3(PAH):c.833C>A (p.Thr278Asn)	rs62507262
NM_000277.3(PAH):c.836C>T (p.Pro279Leu)	rs796064503
NM_000277.3(PAH):c.844G>A (p.Asp282Asn)	rs199475582
NM_000277.3(PAH):c.845A>G (p.Asp282Gly)	rs199475660
NM_000277.3(PAH):c.910C>T (p.Gln304Ter)	rs1555204295
NM_000277.3(PAH):c.929C>T (p.Ser310Phe)	rs62642913
NM_000277.3(PAH):c.960G>C (p.Lys320Asn)	rs199475615
NM_000277.3(PAH):c.992T>C (p.Phe331Ser)	rs199475614
NM_000277.3(PAH):c.992T>G (p.Phe331Cys)	rs199475614
NM_000282.4(PCCA):c.1353+5_1353+9del	rs764045674
NM_000282.4(PCCA):c.1847_1848del
NM_000282.4(PCCA):c.1899+4_1899+7del	rs794727334
NM_000282.4(PCCA):c.2027del (p.Lys676fs)	rs1555327702
NM_000282.4(PCCA):c.2040G>A (p.Ala680=)	rs369982920
NM_000282.4(PCCA):c.2119-2A>G	rs867315913
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs)	rs749875940
NM_000282.4(PCCA):c.284del (p.Asp95fs)	rs775825345
NM_000282.4(PCCA):c.39del (p.Ala14fs)	rs1593996563
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr)	rs202247814
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp)	rs796052019
NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer)	rs1555361758
NM_000282.4(PCCA):c.69_78del (p.Gln23fs)	rs781030239
NM_000282.4(PCCA):c.722del (p.Gly241fs)	rs745571507
NM_000282.4(PCCA):c.734C>A (p.Ser245Ter)
NM_000282.4(PCCA):c.862A>G (p.Arg288Gly)	rs121964957
NM_000282.4(PCCA):c.866_867del (p.Glu289fs)	rs760976198
NM_000282.4(PCCA):c.915-1G>C	rs367615795
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)	rs1555933963
NM_000286.3(PEX12):c.140C>G (p.Ser47Ter)
NM_000286.3(PEX12):c.223_224del (p.Leu75fs)	rs1555549876
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter)	rs776731688
NM_000286.3(PEX12):c.511del (p.Glu171fs)	rs945104524
NM_000286.3(PEX12):c.543C>A (p.Tyr181Ter)
NM_000286.3(PEX12):c.573_574dup (p.Leu192fs)
NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer)	rs1238451790
NM_000286.3(PEX12):c.808del (p.Gln270fs)
NM_000286.3(PEX12):c.910_911del (p.Cys304fs)	rs867245161
NM_000286.3(PEX12):c.920_921del (p.Cys307fs)	rs2142228928
NM_000286.3(PEX12):c.961_964del (p.Gly321fs)	rs749650201
NM_000286.3(PEX12):c.969_970del (p.Phe324fs)	rs2072781707
NM_000286.3(PEX12):c.987_988del (p.Phe330fs)	rs764657253
NM_000287.4(PEX6):c.1027del (p.Arg343fs)	rs1388178333
NM_000287.4(PEX6):c.1202T>A (p.Leu401Ter)	rs886044436
NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp)	rs771063294
NM_000287.4(PEX6):c.1338_1339del (p.Ala447fs)	rs398123303
NM_000287.4(PEX6):c.1947del (p.Ile650fs)	rs267608227
NM_000287.4(PEX6):c.2095-21_2095-10del	rs772869377
NM_000287.4(PEX6):c.2406del (p.Phe802fs)	rs1554126965
NM_000287.4(PEX6):c.659G>T (p.Gly220Val)	rs267608203
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs)	rs62636519
NM_000288.4(PEX7):c.188+1G>A	rs267608254
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter)	rs763514968
NM_000288.4(PEX7):c.488G>A (p.Trp163Ter)	rs1173171051
NM_000288.4(PEX7):c.549G>A (p.Trp183Ter)
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe)	rs61753236
NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln)	rs267608257
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter)	rs1064795749
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro)	rs121918193
NM_000289.6(PFKM):c.1607del (p.Gly535_Ser536insTer)	rs866260025
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)
NM_000289.6(PFKM):c.2080_2081del (p.Ser694fs)	rs1233958453
NM_000289.6(PFKM):c.238-3A>G
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter)	rs121918195
NM_000289.6(PFKM):c.736C>T (p.Arg246Ter)	rs866904446
NM_000294.3(PHKG2):c.927+13G>A	rs371298131
NM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA (p.Glu370fs)	rs864622043
NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs)	rs764325655
NM_000295.5(SERPINA1):c.475A>T (p.Lys159Ter)
NM_000295.5(SERPINA1):c.480del (p.Lys160fs)
NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter)	rs864622051
NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter)	rs199422210
NM_000295.5(SERPINA1):c.611_612del (p.Thr204fs)	rs921982028
NM_000295.5(SERPINA1):c.647del	rs1555368758
NM_000295.5(SERPINA1):c.866dup (p.Asn289fs)	rs1555368557
NM_000303.3(PMM2):c.131T>C (p.Val44Ala)	rs104894534
NM_000303.3(PMM2):c.16_22del (p.Pro6fs)	rs2141014102
NM_000303.3(PMM2):c.179-1G>C
NM_000303.3(PMM2):c.190del (p.Tyr64fs)	rs1339004837
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser)	rs769648248
NM_000303.3(PMM2):c.253C>T (p.Gln85Ter)
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr)	rs104894532
NM_000303.3(PMM2):c.385G>A (p.Val129Met)	rs104894525
NM_000303.3(PMM2):c.414del (p.Glu139fs)	rs755008774
NM_000303.3(PMM2):c.451_454del	rs1274794195
NM_000303.3(PMM2):c.488_491del (p.Lys163fs)	rs2060678732
NM_000303.3(PMM2):c.55del (p.Ala19fs)	rs1596481889
NM_000303.3(PMM2):c.561G>A (p.Trp187Ter)	rs201855351
NM_000303.3(PMM2):c.573C>A (p.Tyr191Ter)	rs201440361
NM_000303.3(PMM2):c.584_585del (p.His195fs)
NM_000303.3(PMM2):c.617del (p.Phe206fs)	rs1555449810
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp)	rs758340382
NM_000303.3(PMM2):c.639+1G>A	rs1057517183
NM_000303.3(PMM2):c.640-23A>G	rs981372486
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile)	rs78290141
NM_000303.3(PMM2):c.66+1del	rs1555495965
NM_000303.3(PMM2):c.669C>A (p.Asp223Glu)
NM_000303.3(PMM2):c.67-1G>C
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser)	rs80338706
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys)	rs558826439
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter)	rs763091085
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)	rs80338708
NM_000303.3(PMM2):c.710C>T (p.Thr237Met)	rs80338708
NM_000303.3(PMM2):c.713G>C (p.Arg238Pro)	rs151319324
NM_000303.3(PMM2):c.72del (p.Thr25fs)	rs2060617981
NM_000310.4(PPT1):c.114G>T (p.Trp38Cys)	rs386833626
NM_000310.4(PPT1):c.125G>A (p.Gly42Glu)	rs386833631
NM_000310.4(PPT1):c.163A>T (p.Lys55Ter)	rs386833633
NM_000310.4(PPT1):c.169dup (p.Met57fs)	rs386833634
NM_000310.4(PPT1):c.175del (p.Glu59fs)	rs386833635
NM_000310.4(PPT1):c.249CTT[2] (p.Phe85del)	rs386833637
NM_000310.4(PPT1):c.29_41del (p.Leu10fs)	rs762226836
NM_000310.4(PPT1):c.362+5G>A	rs796052924
NM_000310.4(PPT1):c.398del (p.Met133fs)	rs386833644
NM_000310.4(PPT1):c.455del (p.Cys152fs)	rs886041568
NM_000310.4(PPT1):c.541G>T (p.Val181Leu)	rs148412181
NM_000310.4(PPT1):c.629_630dup (p.Ile211fs)	rs1302326945
NM_000310.4(PPT1):c.653dup (p.Asn218fs)	rs1057516889
NM_000310.4(PPT1):c.713C>T (p.Pro238Leu)	rs878853322
NM_000310.4(PPT1):c.798+1G>T	rs878853929
NM_000310.4(PPT1):c.798+2T>C	rs1553166337
NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys)	rs876660634
NM_000317.3(PTS):c.-24_9del	rs2135407114
NM_000317.3(PTS):c.108C>G (p.Asn36Lys)	rs1449216377
NM_000317.3(PTS):c.146A>G (p.His49Arg)	rs750229518
NM_000317.3(PTS):c.166G>A (p.Val56Met)	rs104894277
NM_000317.3(PTS):c.166GTG[1] (p.Val57del)	rs770387277
NM_000317.3(PTS):c.174_175del (p.Val59fs)	rs2135408968
NM_000317.3(PTS):c.238A>G (p.Met80Val)	rs1057517810
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)
NM_000317.3(PTS):c.281A>G (p.Asp94Gly)	rs1057517811
NM_000317.3(PTS):c.308T>C (p.Val103Ala)	rs1555198459
NM_000317.3(PTS):c.315-2A>G	rs1555198483
NM_000317.3(PTS):c.385A>G (p.Lys129Glu)
NM_000317.3(PTS):c.393del (p.Val132fs)	rs780332520
NM_000317.3(PTS):c.400G>T (p.Glu134Ter)	rs779681799
NM_000317.3(PTS):c.407A>T (p.Asp136Val)	rs1859972447
NM_000317.3(PTS):c.74G>A (p.Arg25Gln)	rs104894273
NM_000318.3(PEX2):c.183G>A (p.Trp61Ter)
NM_000318.3(PEX2):c.218del (p.Asn73fs)	rs1586070089
NM_000318.3(PEX2):c.232C>T (p.Gln78Ter)	rs1586070043
NM_000318.3(PEX2):c.310dup (p.Ile104fs)	rs1235008965
NM_000318.3(PEX2):c.314G>A (p.Trp105Ter)
NM_000318.3(PEX2):c.325dup (p.Cys109fs)	rs1052655986
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)	rs764771123
NM_000318.3(PEX2):c.34_37del (p.Asn12fs)	rs1174648906
NM_000318.3(PEX2):c.354_355del (p.Arg119fs)	rs1554584505
NM_000318.3(PEX2):c.610_611del (p.Leu204fs)
NM_000321.3(RB1):c.2094G>C (p.Arg698Ser)	rs1131690891
NM_000321.3(RB1):c.54_76dup (p.Pro26fs)	rs1555279210
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)	rs62636300
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val)	rs1193631220
NM_000329.3(RPE65):c.246-11A>G	rs905365719
NM_000329.3(RPE65):c.859G>T (p.Val287Phe)	rs281865289
NM_000329.3(RPE65):c.93A>G (p.Thr31=)	rs2100834154
NM_000335.5(SCN5A):c.2533del (p.Val845fs)	rs794728912
NM_000346.4(SOX9):c.508C>G (p.Pro170Ala)	rs866706988
NM_000352.6(ABCC8):c.4412-13G>A	rs1008906426
NM_000353.3(TAT):c.1224G>T (p.Thr408=)
NM_000353.3(TAT):c.169C>T (p.Arg57Ter)	rs118203914
NM_000353.3(TAT):c.226dup (p.Leu76fs)	rs746077579
NM_000353.3(TAT):c.707-2A>G	rs1005382525
NM_000353.3(TAT):c.814del (p.Ile272fs)	rs2044197900
NM_000353.3(TAT):c.825del (p.Cys275fs)	rs2145231253
NM_000359.3(TGM1):c.1147G>A (p.Val383Met)	rs121918722
NM_000359.3(TGM1):c.1166G>A (p.Arg389His)	rs121918723
NM_000359.3(TGM1):c.1187G>A (p.Arg396His)	rs121918721
NM_000359.3(TGM1):c.1984C>T (p.Gln662Ter)	rs1555305725
NM_000359.3(TGM1):c.2226-2A>G	rs752349623
NM_000359.3(TGM1):c.635C>T (p.Ser212Phe)	rs1555306304
NM_000359.3(TGM1):c.679C>T (p.Gln227Ter)	rs972054392
NM_000359.3(TGM1):c.802del (p.Val268fs)	rs1322979131
NM_000359.3(TGM1):c.919C>T (p.Arg307Trp)	rs121918731
NM_000359.3(TGM1):c.984+1G>A	rs749160734
NM_000360.4(TH):c.1010C>T (p.Pro337Leu)	rs2133692289
NM_000360.4(TH):c.1035_1045del (p.Gln346fs)	rs1590166832
NM_000360.4(TH):c.1052T>C (p.Ile351Thr)	rs1554922725
NM_000360.4(TH):c.1125del (p.Glu375fs)	rs2133690407
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)
NM_000360.4(TH):c.1228C>T (p.Arg410Trp)	rs575326605
NM_000360.4(TH):c.203del (p.Leu68fs)	rs1554923852
NM_000360.4(TH):c.628G>A (p.Ala210Thr)	rs1260455415
NM_000360.4(TH):c.789_795dup (p.Glu266fs)
NM_000360.4(TH):c.81G>T (p.Glu27Asp)	rs139742336
NM_000360.4(TH):c.90+13G>T	rs77140743
NM_000360.4(TH):c.917G>A (p.Arg306His)	rs28934580
NM_000360.4(TH):c.934C>T (p.Gln312Ter)
NM_000368.5(TSC1):c.2208+2T>A	rs1064794132
NM_000370.3(TTPA):c.19del (p.Gln7fs)	rs760014795
NM_000370.3(TTPA):c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer)	rs1554524061
NM_000370.3(TTPA):c.487del (p.Trp163fs)	rs397515378
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu)	rs773970123
NM_000372.5(TYR):c.155G>T (p.Arg52Ile)	rs61753182
NM_000372.5(TYR):c.178_179del (p.Leu60fs)
NM_000372.5(TYR):c.272G>A (p.Cys91Tyr)	rs137854890
NM_000372.5(TYR):c.286dup (p.Met96fs)	rs61753190
NM_000372.5(TYR):c.607G>T (p.Glu203Ter)
NM_000372.5(TYR):c.706T>C (p.Trp236Arg)	rs2135242624
NM_000372.5(TYR):c.863T>C (p.Leu288Ser)
NM_000372.5(TYR):c.996G>A (p.Met332Ile)	rs2135253415
NM_000380.4(XPA):c.323G>T (p.Cys108Phe)	rs104894131
NM_000380.4(XPA):c.428_429del (p.Glu143fs)	rs1554701540
NM_000380.4(XPA):c.631C>T (p.Arg211Ter)	rs149226993
NM_000380.4(XPA):c.772_785del (p.Arg258fs)	rs778543124
NM_000382.3(ALDH3A2):c.471+1del	rs786204741
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000387.6(SLC25A20):c.10C>T (p.Gln4Ter)	rs756998699
NM_000387.6(SLC25A20):c.125del (p.Pro42fs)
NM_000387.6(SLC25A20):c.397C>T (p.Arg133Trp)	rs748394731
NM_000387.6(SLC25A20):c.542del (p.Pro181fs)
NM_000387.6(SLC25A20):c.823C>T (p.Arg275Ter)
NM_000387.6(SLC25A20):c.82G>T (p.Gly28Cys)	rs747335514
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter)	rs202189057
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val)	rs786205465
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter)	rs74315303
NM_000396.4(CTSK):c.830C>T (p.Ala277Val)	rs74315304
NM_000402.4(G6PD):c.1250G>A (p.Arg417His)	rs137852321
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro)	rs72554665
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)	rs78478128
NM_000402.4(G6PD):c.482G>T (p.Gly161Val)	rs137852341
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)	rs137852314
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys)	rs192732174
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)	rs137853097
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His)	rs1554068136
NM_000414.4(HSD17B4):c.1595A>G (p.His532Arg)	rs1554068272
NM_000414.4(HSD17B4):c.1768-1G>A
NM_000414.4(HSD17B4):c.868+1del	rs749532705
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer)	rs758055753
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp)	rs766503255
NM_000426.4(LAMA2):c.1306+2T>G	rs1326401124
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)	rs202247790
NM_000426.4(LAMA2):c.2556del (p.Phe852fs)	rs750731624
NM_000426.4(LAMA2):c.2749+1G>A	rs759555791
NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter)	rs398123371
NM_000426.4(LAMA2):c.4198C>T (p.Arg1400Ter)	rs775112258
NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe)	rs143680577
NM_000426.4(LAMA2):c.4524-2A>T	rs1554278541
NM_000426.4(LAMA2):c.4692_4695dup (p.Arg1566fs)	rs774051471
NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter)	rs553221833
NM_000426.4(LAMA2):c.5259del (p.Lys1753_Val1754insTer)	rs1211739649
NM_000426.4(LAMA2):c.6510TGT[1] (p.Val2172del)	rs1363017615
NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter)	rs121913571
NM_000430.4(PAFAH1B1):c.484G>A (p.Gly162Ser)	rs121434487
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)	rs146281367
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr)	rs201562855
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg)	rs201660407
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del)	rs111033306
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg)	rs768471577
NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys)	rs1554359670
NM_000441.2(SLC26A4):c.1437+2T>G	rs397516418
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer)	rs786204601
NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala)	rs727505088
NM_000441.2(SLC26A4):c.1803G>A (p.Lys601=)
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val)	rs2129318281
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln)	rs111033318
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn)	rs397516427
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val)	rs111033310
NM_000441.2(SLC26A4):c.226C>T (p.Pro76Ser)	rs1554352676
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu)	rs370588279
NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile)	rs1057516953
NM_000441.2(SLC26A4):c.284G>A (p.Gly95Glu)	rs2129309208
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg)	rs1219724284
NM_000441.2(SLC26A4):c.334C>T (p.Pro112Ser)	rs1409565648
NM_000441.2(SLC26A4):c.367C>T (p.Pro123Ser)	rs984967571
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu)	rs111033199
NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala)	rs756272252
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg)	rs111033380
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	rs111033256
NM_000443.4(ABCB4):c.2692G>A (p.Glu898Lys)	rs1808782267
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His)	rs752916287
NM_000454.5(SOD1):c.230A>T (p.Asp77Val)	rs1568810316
NM_000465.4(BARD1):c.1061C>G (p.Ser354Ter)	rs786202559
NM_000465.4(BARD1):c.1069dup (p.Ile357fs)	rs2106108903
NM_000465.4(BARD1):c.1227_1231del (p.Ser410fs)	rs1553622160
NM_000465.4(BARD1):c.1240del (p.Ala413_Met414insTer)	rs1553622145
NM_000465.4(BARD1):c.1314+1G>A	rs753785671
NM_000465.4(BARD1):c.133G>T (p.Glu45Ter)
NM_000465.4(BARD1):c.1345del (p.Gln449fs)	rs2106081379
NM_000465.4(BARD1):c.1348_1349delinsCAT (p.Asn450fs)	rs1553619713
NM_000465.4(BARD1):c.1349dup (p.Asn450fs)	rs876660390
NM_000465.4(BARD1):c.1407C>A (p.Cys469Ter)	rs1553619349
NM_000465.4(BARD1):c.1568+5G>A
NM_000465.4(BARD1):c.1569-7T>G	rs1559395026
NM_000465.4(BARD1):c.159-1G>T	rs879254139
NM_000465.4(BARD1):c.1658C>G (p.Ser553Ter)
NM_000465.4(BARD1):c.1662_1665del (p.Ser555fs)	rs753537518
NM_000465.4(BARD1):c.1735dup (p.Ser579fs)
NM_000465.4(BARD1):c.1838_1841dup (p.Gln615fs)
NM_000465.4(BARD1):c.1872del (p.Leu625fs)	rs876659572
NM_000465.4(BARD1):c.1935_1954del (p.Cys645_Glu652delinsTer)	rs587780024
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs)	rs587780024
NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter)	rs730881422
NM_000465.4(BARD1):c.2001+3A>G	rs1553612461
NM_000465.4(BARD1):c.2020G>T (p.Gly674Ter)	rs1328046615
NM_000465.4(BARD1):c.2024del (p.Cys675fs)	rs2105987971
NM_000465.4(BARD1):c.2063dup (p.Asp689fs)	rs1064796026
NM_000465.4(BARD1):c.212G>A (p.Cys71Tyr)	rs1064793959
NM_000465.4(BARD1):c.215+9T>G	rs1559441723
NM_000465.4(BARD1):c.2229dup (p.Asn744Ter)	rs1259296823
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs)	rs750413473
NM_000465.4(BARD1):c.272G>A (p.Trp91Ter)	rs1559437094
NM_000465.4(BARD1):c.362C>G (p.Ser121Ter)
NM_000465.4(BARD1):c.46_68dup (p.Ala25fs)	rs1553628445
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter)	rs752514155
NM_000465.4(BARD1):c.580_581del (p.Arg194fs)
NM_000465.4(BARD1):c.632T>G (p.Leu211Ter)	rs762171436
NM_000465.4(BARD1):c.653G>A (p.Trp218Ter)	rs1553622534
NM_000465.4(BARD1):c.716del (p.Leu239fs)	rs2106110871
NM_000465.4(BARD1):c.838_839del (p.Leu280fs)	rs876659752
NM_000465.4(BARD1):c.862_863insGG (p.Ser288fs)
NM_000465.4(BARD1):c.873dup (p.Lys292Ter)	rs1553622378
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro)	rs370483961
NM_000466.3(PEX1):c.1891del (p.Ala631fs)	rs2075434480
NM_000466.3(PEX1):c.2039del (p.Pro680fs)	rs1269903353
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)	rs61750415
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)	rs61750428
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro)	rs954814470
NM_000466.3(PEX1):c.3115del (p.Thr1039fs)	rs1562846257
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs)	rs886043558
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter)	rs1057517467
NM_000466.3(PEX1):c.358-1G>T	rs1057517479
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)	rs121918009
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly)	rs1219494274
NM_000478.6(ALPL):c.1017dup (p.His340fs)	rs764908423
NM_000478.6(ALPL):c.1042G>A (p.Ala348Thr)	rs1553414563
NM_000478.6(ALPL):c.1077C>G (p.Ile359Met)	rs567349821
NM_000478.6(ALPL):c.1132G>C (p.Asp378His)	rs1553414611
NM_000478.6(ALPL):c.1171del (p.Arg391fs)	rs751404811
NM_000478.6(ALPL):c.1171dup (p.Arg391fs)	rs751404811
NM_000478.6(ALPL):c.1328C>T (p.Ala443Val)	rs768053120
NM_000478.6(ALPL):c.1417G>A (p.Gly473Ser)	rs1644755212
NM_000478.6(ALPL):c.1426G>A (p.Glu476Lys)	rs1057517173
NM_000478.6(ALPL):c.1460C>T (p.Ala487Val)	rs1229517379
NM_000478.6(ALPL):c.203C>T (p.Thr68Met)	rs1644478533
NM_000478.6(ALPL):c.211C>T (p.Arg71Cys)	rs121918001
NM_000478.6(ALPL):c.212G>C (p.Arg71Pro)	rs121918003
NM_000478.6(ALPL):c.334G>A (p.Gly112Ser)	rs1384701659
NM_000478.6(ALPL):c.340G>A (p.Ala114Thr)	rs1320839573
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr)	rs121918013
NM_000478.6(ALPL):c.368C>A (p.Ala123Asp)	rs1188506084
NM_000478.6(ALPL):c.400_401delinsCA (p.Thr134His)	rs786204530
NM_000478.6(ALPL):c.406C>T (p.Arg136Cys)	rs747762186
NM_000478.6(ALPL):c.422C>A (p.Thr141Asn)	rs916300043
NM_000478.6(ALPL):c.500C>T (p.Thr167Met)	rs1408325840
NM_000478.6(ALPL):c.746G>T (p.Gly249Val)	rs121918018
NM_000478.6(ALPL):c.874C>A (p.Pro292Thr)	rs765458125
NM_000478.6(ALPL):c.891C>A (p.Tyr297Ter)	rs755529290
NM_000478.6(ALPL):c.928_929del (p.Ser310fs)	rs1057516702
NM_000478.6(ALPL):c.94C>T (p.Gln32Ter)	rs1209147330
NM_000478.6(ALPL):c.963del (p.Lys322fs)	rs1553414133
NM_000481.4(AMT):c.1056del (p.Ser353fs)	rs2049022161
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg)	rs1167886830
NM_000481.4(AMT):c.15_18del (p.Ser6fs)	rs1553638904
NM_000481.4(AMT):c.165del (p.Gly54_Trp55insTer)	rs1483890972
NM_000481.4(AMT):c.434A>T (p.Asn145Ile)	rs386833682
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del)	rs386833683
NM_000481.4(AMT):c.471+2T>C	rs386833684
NM_000481.4(AMT):c.574C>T (p.Gln192Ter)	rs121964986
NM_000481.4(AMT):c.982dup (p.Ala328fs)	rs1553638266
NM_000487.6(ARSA):c.877C>T (p.Arg293Ter)	rs1555900678
NM_000487.6(ARSA):c.942G>T (p.Glu314Asp)	rs199476390
NM_000489.6(ATRX):c.3196A>G (p.Lys1066Glu)
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	rs193922500
NM_000492.4(CFTR):c.350G>A (p.Arg117His)	rs78655421
NM_000492.4(CFTR):c.3717+40A>G	rs397508595
NM_000492.4(CFTR):c.3717+5G>A	rs193922520
NM_000497.4(CYP11B1):c.1121G>A (p.Arg374Gln)	rs104894062
NM_000497.4(CYP11B1):c.1201-1G>A	rs1437397442
NM_000497.4(CYP11B1):c.217C>T (p.Gln73Ter)	rs1554653675
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)	rs104894070
NM_000497.4(CYP11B1):c.55C>T (p.Gln19Ter)	rs763195324
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=)	rs753774484
NM_000497.4(CYP11B1):c.992C>T (p.Ala331Val)	rs1326688256
NM_000500.9(CYP21A2):c.293-13C>G	rs6467
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)	rs566453434
NM_000518.4(HBB):c.364G>A (p.Glu122Lys)	rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	rs33946267
NM_000521.4(HEXB):c.1294dup (p.Glu432fs)	rs775920504
NM_000521.4(HEXB):c.558+1G>C	rs1198764997
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000528.4(MAN2B1):c.1048dup (p.His350fs)	rs2145262260
NM_000528.4(MAN2B1):c.105_106del (p.Cys36fs)	rs2024251717
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter)	rs786204715
NM_000528.4(MAN2B1):c.1280_1296del (p.Pro427fs)	rs1057517408
NM_000528.4(MAN2B1):c.1309+1G>T	rs1057516745
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter)	rs775200333
NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs)	rs1599350640
NM_000528.4(MAN2B1):c.164G>T (p.Cys55Phe)	rs864621975
NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter)	rs1599344532
NM_000528.4(MAN2B1):c.1963del (p.Gln655fs)
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)	rs80338680
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.2999T>C (p.Phe1000Ser)	rs864621991
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)	rs370803545
NM_000528.4(MAN2B1):c.426del (p.Val143fs)	rs2024205685
NM_000528.4(MAN2B1):c.437-1dup	rs1160557969
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg)	rs864621977
NM_000528.4(MAN2B1):c.664_667del (p.Asp222fs)
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del)	rs72558452
NM_000531.6(OTC):c.903A>T (p.Leu301Phe)	rs72558462
NM_000532.5(PCCB):c.1222ATC[1] (p.Ile409del)
NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter)	rs1553784921
NM_000532.5(PCCB):c.1478del (p.Pro493fs)
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter)	rs1292452485
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter)	rs749908889
NM_000532.5(PCCB):c.155_183+17del	rs1941483558
NM_000532.5(PCCB):c.167_179delinsC (p.Asp56_Lys60delinsAla)
NM_000532.5(PCCB):c.183+5G>A	rs879253813
NM_000532.5(PCCB):c.184-2A>G	rs1553774015
NM_000532.5(PCCB):c.187_203del	rs2108137253
NM_000532.5(PCCB):c.433_434insGCTGTTA (p.Met145fs)	rs2108146615
NM_000532.5(PCCB):c.446dup (p.Thr150fs)
NM_000532.5(PCCB):c.487_488dup (p.Ala164fs)	rs1553774884
NM_000532.5(PCCB):c.494G>C (p.Arg165Pro)
NM_000532.5(PCCB):c.499C>T (p.Gln167Ter)
NM_000532.5(PCCB):c.517_518del (p.Leu173fs)	rs755776820
NM_000532.5(PCCB):c.638del (p.Phe213fs)	rs1196443543
NM_000532.5(PCCB):c.655-2A>G	rs1553778865
NM_000532.5(PCCB):c.838dup (p.Leu280fs)	rs769968548
NM_000532.5(PCCB):c.847C>T (p.Gln283Ter)
NM_000535.7(PMS2):c.1111_1112del (p.Asn371fs)	rs1583334346
NM_000535.7(PMS2):c.1254del (p.Arg419fs)
NM_000535.7(PMS2):c.1588C>T (p.Gln530Ter)
NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs)	rs863224498
NM_000535.7(PMS2):c.164-1G>C	rs763308607
NM_000535.7(PMS2):c.1675G>T (p.Gly559Ter)
NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter)	rs63750456
NM_000535.7(PMS2):c.1810C>T (p.Gln604Ter)	rs1064793426
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)	rs63750250
NM_000535.7(PMS2):c.1859_1860insAT (p.Phe620fs)	rs756358866
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter)	rs1554297125
NM_000535.7(PMS2):c.1938del (p.Lys647fs)	rs2128720948
NM_000535.7(PMS2):c.2007-2A>G	rs587782336
NM_000535.7(PMS2):c.2095G>C (p.Asp699His)	rs587781317
NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter)	rs876659900
NM_000535.7(PMS2):c.2247T>A (p.Asn749Lys)	rs200824831
NM_000535.7(PMS2):c.2275+1G>C	rs1554294393
NM_000535.7(PMS2):c.2397_2400dup (p.Ser801fs)	rs2128672594
NM_000535.7(PMS2):c.24-12_107delinsAAAT	rs1554306445
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)	rs730881919
NM_000535.7(PMS2):c.2445+1G>T	rs876661113
NM_000535.7(PMS2):c.354-2A>G	rs786202098
NM_000535.7(PMS2):c.485T>A (p.Leu162Ter)	rs1785199575
NM_000535.7(PMS2):c.520C>T (p.Gln174Ter)	rs1221485925
NM_000535.7(PMS2):c.573C>A (p.Tyr191Ter)
NM_000535.7(PMS2):c.641_644dup (p.Cys216fs)	rs1784802468
NM_000535.7(PMS2):c.746_753del (p.Asp249fs)	rs587782710
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer)	rs1064794905
NM_000535.7(PMS2):c.79del (p.Cys27fs)
NM_000535.7(PMS2):c.803+1G>A	rs1562669585
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn)	rs267608153
NM_000535.7(PMS2):c.904-2A>G	rs587781339
NM_000536.4(RAG2):c.230C>A (p.Thr77Asn)	rs121918574
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)	rs794728696
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)	rs118192181
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)	rs118192124
NM_000543.5(SMPD1):c.1092-1G>C	rs398123474
NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs)	rs1057516432
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His)	rs120074117
NM_000543.5(SMPD1):c.151_154del (p.Asp51fs)	rs1057516949
NM_000543.5(SMPD1):c.1598C>A (p.Pro533Gln)	rs199915216
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)	rs398123478
NM_000543.5(SMPD1):c.1783_1784del (p.Ala597fs)	rs1437508852
NM_000543.5(SMPD1):c.1785_1786del (p.Ala597fs)	rs1057516403
NM_000543.5(SMPD1):c.354del (p.Ile119fs)	rs727504165
NM_000543.5(SMPD1):c.362T>C (p.Leu121Pro)	rs1554934109
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro)	rs780134410
NM_000543.5(SMPD1):c.505dup (p.His169fs)	rs781535659
NM_000543.5(SMPD1):c.518dup (p.Ser174fs)	rs786204733
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs)	rs786204694
NM_000543.5(SMPD1):c.581dup (p.Ala195fs)	rs748165078
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter)	rs1554933751
NM_000543.5(SMPD1):c.682T>C (p.Cys228Arg)	rs1564923612
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs)	rs794727252
NM_000543.5(SMPD1):c.872G>A (p.Arg291His)	rs1803161
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg)	rs757934797
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter)	rs786204506
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)	rs202081954
NM_000546.6(TP53):c.787A>G (p.Asn263Asp)	rs72661119
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)	rs730882008
NM_000546.6(TP53):c.997C>T (p.Arg333Cys)	rs769934890
NM_000548.5(TSC2):c.1257+2T>C	rs45509697
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)	rs45517179
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter)	rs45517099
NM_000551.4(VHL):c.574C>T (p.Pro192Ser)	rs28940300
NM_000553.6(WRN):c.1012_1018del (p.Val338fs)	rs2130118911
NM_000553.6(WRN):c.1114_1115delinsC (p.Asp372fs)	rs1563338855
NM_000553.6(WRN):c.1173T>A (p.Cys391Ter)
NM_000553.6(WRN):c.1181C>T (p.Ser394Leu)	rs200487813
NM_000553.6(WRN):c.1350+1G>T	rs752202315
NM_000553.6(WRN):c.15del (p.Lys5fs)	rs878854133
NM_000553.6(WRN):c.1665del (p.Lys555_Val556insTer)	rs1585440064
NM_000553.6(WRN):c.1744C>T (p.Gln582Ter)	rs757808169
NM_000553.6(WRN):c.1754del (p.Pro585fs)
NM_000553.6(WRN):c.1873G>T (p.Glu625Ter)
NM_000553.6(WRN):c.1898+2T>G	rs772319506
NM_000553.6(WRN):c.1908C>A (p.Tyr636Ter)	rs1585449207
NM_000553.6(WRN):c.229dup (p.Asp77fs)	rs747587698
NM_000553.6(WRN):c.2448+1G>A	rs2130306367
NM_000553.6(WRN):c.2503del (p.Gln835fs)	rs748484883
NM_000553.6(WRN):c.2548C>T (p.Gln850Ter)	rs2130322576
NM_000553.6(WRN):c.2630+1G>A	rs1279240593
NM_000553.6(WRN):c.2952_2953del (p.Leu984fs)	rs1802222407
NM_000553.6(WRN):c.3244del (p.Val1082fs)	rs745905108
NM_000553.6(WRN):c.3382dup (p.Ser1128fs)	rs778872619
NM_000553.6(WRN):c.3408dup (p.Ala1137fs)	rs1284409960
NM_000553.6(WRN):c.3590del (p.Asn1197fs)	rs281865160
NM_000553.6(WRN):c.3726del (p.Lys1243fs)	rs2130469991
NM_000553.6(WRN):c.3819+1G>C	rs748618811
NM_000553.6(WRN):c.3972del (p.Val1325fs)
NM_000553.6(WRN):c.4111A>T (p.Lys1371Ter)
NM_000553.6(WRN):c.464T>A (p.Leu155Ter)
NM_000553.6(WRN):c.561A>G (p.Lys187=)	rs775802030
NM_000553.6(WRN):c.944T>G (p.Leu315Ter)	rs1813280584
NM_000587.4(C7):c.1561C>A (p.Arg521Ser)	rs121964920
NM_000642.3(AGL):c.1041dup (p.Val348fs)	rs2101126325
NM_000642.3(AGL):c.104T>G (p.Leu35Ter)	rs1057516567
NM_000642.3(AGL):c.1148C>G (p.Ser383Ter)
NM_000642.3(AGL):c.1243A>T (p.Lys415Ter)	rs2101128697
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer)	rs786204678
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter)	rs140095668
NM_000642.3(AGL):c.1688delinsGA (p.Leu563fs)	rs1651876879
NM_000642.3(AGL):c.1788T>G (p.Tyr596Ter)	rs777871903
NM_000642.3(AGL):c.18_19del (p.Gln6fs)	rs113994127
NM_000642.3(AGL):c.1942dup (p.Ser648fs)	rs2100758555
NM_000642.3(AGL):c.2036del (p.Lys679fs)	rs2100759432
NM_000642.3(AGL):c.214_215del (p.Glu72fs)	rs754978531
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter)	rs1652018859
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer)	rs767346840
NM_000642.3(AGL):c.2349_2352del (p.Arg784fs)
NM_000642.3(AGL):c.2351_2352del (p.Arg784fs)
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs)	rs1553187237
NM_000642.3(AGL):c.2538dup (p.Ile847fs)	rs1057516984
NM_000642.3(AGL):c.2670del (p.Pro891fs)	rs764591009
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter)	rs767529587
NM_000642.3(AGL):c.2905dup (p.Tyr969fs)	rs1652879873
NM_000642.3(AGL):c.293+1G>T
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.3091C>T (p.Gln1031Ter)
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs)	rs771069887
NM_000642.3(AGL):c.3362+1G>A	rs1553189468
NM_000642.3(AGL):c.3362+2T>C	rs2100804114
NM_000642.3(AGL):c.3589-3C>G	rs1653935585
NM_000642.3(AGL):c.3630del (p.Lys1210fs)	rs1653938652
NM_000642.3(AGL):c.3662del (p.Asn1221fs)
NM_000642.3(AGL):c.36_37insCG (p.Asn13fs)	rs762545015
NM_000642.3(AGL):c.3911dup (p.Asn1304fs)	rs745757264
NM_000642.3(AGL):c.4100del (p.Gly1367fs)	rs777120567
NM_000642.3(AGL):c.4221dup (p.Leu1408fs)	rs786204655
NM_000642.3(AGL):c.4256dup (p.Asp1420fs)
NM_000642.3(AGL):c.4259+5G>A	rs780504025
NM_000642.3(AGL):c.4422del (p.Ala1475fs)	rs1286364615
NM_000642.3(AGL):c.471del (p.Met157fs)
NM_000642.3(AGL):c.535_538del (p.Leu179fs)	rs794727706
NM_000642.3(AGL):c.672dup (p.Ser225Ter)	rs1057516471
NM_000642.3(AGL):c.861_864del (p.Ile288fs)	rs1571243699
NM_000642.3(AGL):c.947_948del (p.Leu316fs)	rs1650934988
NM_000642.3(AGL):c.967C>T (p.Arg323Ter)	rs757987101
NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs)	rs1330793674
NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter)	rs765543886
NM_000709.4(BCKDHA):c.1168-2A>G	rs1555767285
NM_000709.4(BCKDHA):c.116_117dup (p.Arg40fs)	rs398123489
NM_000709.4(BCKDHA):c.1306G>T (p.Glu436Ter)	rs1298823471
NM_000709.4(BCKDHA):c.14del (p.Ile5fs)	rs398123494
NM_000709.4(BCKDHA):c.410_426dup (p.Gly143fs)
NM_000709.4(BCKDHA):c.485G>A (p.Gly162Asp)
NM_000709.4(BCKDHA):c.507C>G (p.Tyr169Ter)
NM_000709.4(BCKDHA):c.511del (p.Leu171fs)	rs762084007
NM_000709.4(BCKDHA):c.661_664del (p.Tyr221fs)	rs796051938
NM_000709.4(BCKDHA):c.663del (p.Ala220_Tyr221insTer)	rs2122142757
NM_000709.4(BCKDHA):c.712G>T (p.Glu238Ter)	rs1303770209
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp)	rs373713279
NM_000709.4(BCKDHA):c.794G>A (p.Arg265Gln)	rs761996996
NM_000709.4(BCKDHA):c.800A>G (p.Asn267Ser)
NM_000709.4(BCKDHA):c.835del (p.Tyr279fs)
NM_000709.4(BCKDHA):c.859C>G (p.Arg287Gly)	rs764247545
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs)	rs1575206357
NM_000784.4(CYP27A1):c.1017+1del	rs1559392904
NM_000784.4(CYP27A1):c.1064del (p.Pro355fs)	rs1575206688
NM_000784.4(CYP27A1):c.1170del (p.Lys391fs)
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs)	rs1178393503
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)	rs121908096
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs)	rs886041342
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)	rs587778781
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)	rs72551322
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)	rs72551322
NM_000784.4(CYP27A1):c.1468del (p.Leu490fs)
NM_000784.4(CYP27A1):c.1477-2A>C	rs111570247
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His)	rs144701596
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter)	rs374507635
NM_000784.4(CYP27A1):c.256-1G>T	rs886556800
NM_000784.4(CYP27A1):c.461G>A (p.Trp154Ter)
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)	rs765512351
NM_000784.4(CYP27A1):c.547del (p.Asp183fs)
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs)	rs758739930
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs)	rs755532803
NM_000784.4(CYP27A1):c.779G>A (p.Trp260Ter)	rs587778810
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)	rs72551318
NM_000784.4(CYP27A1):c.819del (p.Asp273fs)	rs587778812
NM_000784.4(CYP27A1):c.825G>A (p.Trp275Ter)
NM_000784.4(CYP27A1):c.845-1G>C
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)	rs397515356
NM_000834.5(GRIN2B):c.1306T>C (p.Cys436Arg)	rs1565478152
NM_000834.5(GRIN2B):c.1721TCTTTG[1] (p.574VF[1])	rs1555111511
NM_000834.5(GRIN2B):c.2471T>G (p.Met824Arg)	rs1565455878
NM_000834.5(GRIN2B):c.3332G>A (p.Arg1111His)	rs876661167
NM_000925.4(PDHB):c.122_123del (p.Gln41fs)
NM_000925.4(PDHB):c.211C>T (p.Arg71Ter)
NM_000925.4(PDHB):c.716_717del (p.Val239fs)
NM_000937.5(POLR2A):c.83C>G (p.Pro28Arg)	rs1388837601
NM_000969.5(RPL5):c.715A>G (p.Met239Val)
NM_000977.4(RPL13):c.548G>A (p.Arg183His)	rs1597676540
NM_001005242.3(PKP2):c.1379-2047_1379-2043del	rs775995156
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln)	rs1567861501
NM_001008537.3(NEXMIF):c.3728G>A (p.Arg1243His)	rs1256402686
NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn)	rs56041034
NM_001029896.2(WDR45):c.183C>A (p.Asn61Lys)	rs2065045729
NM_001029896.2(WDR45):c.235+5G>A	rs2065045234
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter)	rs1557041672
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp)	rs121908159
NM_001034850.3(RETREG1):c.926C>G (p.Ser309Ter)	rs137852739
NM_001037.5(SCN1B):c.449-2A>G	rs1600370558
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys)	rs796053126
NM_001040142.2(SCN2A):c.751G>A (p.Val251Ile)	rs1057519528
NM_001040716.2(PC):c.1351C>T (p.Arg451Cys)	rs113994143
NM_001040716.2(PC):c.1357C>T (p.Arg453Ter)	rs768514713
NM_001040716.2(PC):c.1639C>T (p.Arg547Ter)
NM_001040716.2(PC):c.2606G>A (p.Gly869Asp)	rs1555015018
NM_001040716.2(PC):c.3089del (p.Leu1030fs)
NM_001040716.2(PC):c.3409_3410del (p.Leu1137fs)	rs113994148
NM_001040716.2(PC):c.52C>T (p.Arg18Ter)	rs144583275
NM_001040716.2(PC):c.584C>T (p.Ala195Val)	rs1436643226
NM_001040716.2(PC):c.796T>G (p.Ser266Ala)	rs113994142
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys)	rs386833694
NM_001042432.2(CLN3):c.1056+3A>C	rs386833698
NM_001042432.2(CLN3):c.1195G>T (p.Glu399Ter)	rs386833701
NM_001042432.2(CLN3):c.370dup (p.Tyr124fs)	rs386833715
NM_001042432.2(CLN3):c.424del (p.Val142fs)	rs386833720
NM_001042432.2(CLN3):c.485C>G (p.Ser162Ter)	rs386833725
NM_001042432.2(CLN3):c.565G>C (p.Gly189Arg)	rs386833731
NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter)	rs267606737
NM_001042432.2(CLN3):c.631C>T (p.Gln211Ter)	rs386833737
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter)	rs121434286
NM_001042432.2(CLN3):c.944dup (p.His315fs)	rs386833740
NM_001042432.2(CLN3):c.954_962+18del	rs386833741
NM_001042432.2(CLN3):c.988G>T (p.Val330Phe)	rs386833744
NM_001042492.3(NF1):c.1392+5_1392+6delinsTT	rs587782851
NM_001042492.3(NF1):c.1405A>G (p.Lys469Glu)	rs1555612271
NM_001042492.3(NF1):c.2252-2A>G	rs1131691105
NM_001042492.3(NF1):c.2329T>G (p.Trp777Gly)	rs876658853
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter)	rs376576925
NM_001042492.3(NF1):c.5711A>G (p.Asn1904Ser)	rs864622647
NM_001042681.2(RERE):c.1681_1684del (p.Glu561fs)	rs1641706044
NM_001044385.3(TMEM237):c.869+1G>A	rs730882231
NM_001048174.2(MUTYH):c.1130_1140del (p.Pro377fs)	rs863224501
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)	rs587780078
NM_001048174.2(MUTYH):c.1183G>T (p.Glu395Ter)	rs1060501321
NM_001048174.2(MUTYH):c.1196_1205del (p.Trp399fs)	rs1553125677
NM_001048174.2(MUTYH):c.1197G>A (p.Trp399Ter)	rs1060501325
NM_001048174.2(MUTYH):c.1237del (p.Glu413fs)	rs1064795480
NM_001048174.2(MUTYH):c.1258C>G (p.His420Asp)	rs786202133
NM_001048174.2(MUTYH):c.1351G>T (p.Glu451Ter)	rs376790729
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter)	rs748170941
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)	rs121908380
NM_001048174.2(MUTYH):c.249dup (p.Pro84fs)	rs878854189
NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter)
NM_001048174.2(MUTYH):c.309_322dup (p.Met108fs)	rs1553129652
NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp)	rs876660190
NM_001048174.2(MUTYH):c.379A>T (p.Lys127Ter)	rs876660787
NM_001048174.2(MUTYH):c.420+19_420+31del	rs781222233
NM_001048174.2(MUTYH):c.424del (p.Glu141_Val142insTer)	rs1553129062
NM_001048174.2(MUTYH):c.442_451del (p.Gly148fs)	rs1057517457
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser)	rs1057517765
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)	rs587780749
NM_001048174.2(MUTYH):c.752A>G (p.Asn251Ser)	rs587778534
NM_001048174.2(MUTYH):c.775del (p.Ala259fs)	rs761468459
NM_001048174.2(MUTYH):c.90_93del (p.Ser30fs)	rs1645561773
NM_001048174.2(MUTYH):c.91C>T (p.Gln31Ter)
NM_001048174.2(MUTYH):c.963G>A (p.Trp321Ter)	rs1060501324
NM_001048174.2(MUTYH):c.994del (p.Arg332fs)	rs1057517456
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg)	rs1064795334
NM_001069.3(TUBB2A):c.5G>A (p.Arg2His)	rs1581499166
NM_001080517.3(SETD5):c.2168T>A (p.Leu723Ter)
NM_001083962.2(TCF4):c.1486+1G>T	rs2048816852
NM_001098.3(ACO2):c.1819C>T (p.Arg607Cys)	rs864309499
NM_001100.4(ACTA1):c.478G>A (p.Gly160Ser)	rs1064794652
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)	rs1555408401
NM_001101.5(ACTB):c.1066T>C (p.Trp356Arg)	rs2128241170
NM_001101.5(ACTB):c.625G>A (p.Val209Met)	rs587779777
NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter)	rs1202301143
NM_001106.4(ACVR2B):c.1147C>T (p.Arg383Cys)	rs1559655653
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)	rs267608327
NM_001110792.2(MECP2):c.414-3C>G	rs267608465
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)	rs28934906
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)	rs61751362
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)	rs61751444
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)	rs398122822
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter)	rs769148365
NM_001111067.4(ACVR1):c.983G>A (p.Gly328Glu)	rs387906589
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=)	rs1602260263
NM_001113378.2(FANCI):c.158-2A>G	rs762128147
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer)	rs758062617
NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter)	rs1359408831
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs)	rs770318990
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter)	rs551305056
NM_001113525.2(ZNF276):c.474_481del	rs1567591276
NM_001113525.2(ZNF276):c.*732G>A	rs775180524
NM_001114753.3(ENG):c.1273-2A>G	rs373842615
NM_001122769.3(LCA5):c.858+1G>C	rs753594556
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs)	rs386833794
NM_001127178.3(PIGG):c.1428T>C (p.Phe476=)	rs766083746
NM_001127178.3(PIGG):c.342dup (p.Thr115fs)	rs886041687
NM_001127178.3(PIGG):c.846C>A (p.Thr282=)	rs144638389
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)	rs1057520918
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)	rs794727411
NM_001127453.2(GSDME):c.212-1G>A	rs1790597003
NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro)	rs61752132
NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg)	rs28940308
NM_001128425.2(MUTYH):c.200del (p.Gly67fs)	rs746449748
NM_001128425.2(MUTYH):c.35G>A (p.Trp12Ter)	rs1064795596
NM_001128425.2(MUTYH):c.36G>A (p.Trp12Ter)	rs767402084
NM_001130004.2(ACTN1):c.137G>A (p.Arg46Gln)	rs387907348
NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys)	rs778673716
NM_001130987.2(DYSF):c.3381_3382del (p.Phe1128fs)	rs398123780
NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn)	rs1554310600
NM_001134363.3(RBM20):c.2714T>A (p.Met905Lys)	rs1564664312
NM_001134407.3(GRIN2A):c.1841A>G (p.Asn614Ser)	rs869312916
NM_001134407.3(GRIN2A):c.288C>G (p.His96Gln)	rs74853460
NM_001134407.3(GRIN2A):c.67_81del (p.Pro23_Ala27del)	rs775540481
NM_001139.3(ALOX12B):c.830T>A (p.Ile277Asn)	rs1977170764
NM_001139.3(ALOX12B):c.83G>A (p.Gly28Glu)	rs1567985822
NM_001142800.2(EYS):c.1211dup (p.Asn404fs)	rs764163418
NM_001142800.2(EYS):c.1299+5_1299+8del	rs1562140604
NM_001142800.2(EYS):c.1328dup (p.Asn443fs)	rs1582176424
NM_001142800.2(EYS):c.1961dup (p.Asn654fs)	rs749103801
NM_001142800.2(EYS):c.2023+5G>T	rs1287889008
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs)	rs750840208
NM_001142800.2(EYS):c.4610_4611del (p.Arg1537fs)	rs886042613
NM_001142800.2(EYS):c.525_527del (p.Glu176del)	rs780433094
NM_001142800.2(EYS):c.5802dup (p.Ile1935fs)	rs1455826633
NM_001142800.2(EYS):c.6812_6813del (p.Thr2271fs)	rs2149802267
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs)	rs751629543
NM_001142800.2(EYS):c.8155_8156del (p.His2719fs)	rs764229134
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)	rs528919874
NM_001142800.2(EYS):c.8830del (p.Val2944fs)	rs776526721
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs)	rs770748359
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs)	rs769824975
NM_001142800.2(EYS):c.9376_9379del (p.Ile3127fs)	rs1166245419
NM_001144061.2(COPB1):c.-57-2A>G
NM_001144967.3(NEDD4L):c.2677G>A (p.Glu893Lys)
NM_001162498.3(LPAR6):c.436G>A (p.Gly146Arg)	rs121434308
NM_001164277.2(SLC37A4):c.1065del (p.Ser356fs)
NM_001164277.2(SLC37A4):c.1124+3_1124+6del	rs782612223
NM_001164277.2(SLC37A4):c.148+2T>C	rs1449998297
NM_001164277.2(SLC37A4):c.195dup (p.Val66fs)
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu)	rs193302888
NM_001164277.2(SLC37A4):c.59dup (p.Tyr21fs)	rs1943676862
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del)	rs121908977
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs)	rs1447366650
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup)	rs786204477
NM_001164277.2(SLC37A4):c.935_936del (p.Thr312fs)
NM_001164277.2(SLC37A4):c.976dup (p.Ser326fs)	rs2134631242
NM_001164277.2(SLC37A4):c.981del (p.Lys328fs)	rs1001301633
NM_001164508.2(NEB):c.20158-6A>G	rs1553715636
NM_001164508.2(NEB):c.3567+1G>A	rs587780399
NM_001165963.4(SCN1A):c.2792G>T (p.Arg931Leu)	rs794726718
NM_001165963.4(SCN1A):c.986G>C (p.Gly329Ala)	rs779184118
NM_001170629.2(CHD8):c.4744C>T (p.Arg1582Ter)	rs1555314211
NM_001171.6(ABCC6):c.4209-2A>C	rs1555506740
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)	rs201108965
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu)	rs369638371
NM_001195518.2(MICU1):c.460C>T (p.Arg154Ter)	rs1840027040
NM_001197104.2(KMT2A):c.3464G>A (p.Cys1155Tyr)	rs1057518074
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg)	rs574204412
NM_001242882.2(NAXD):c.46G>A (p.Val16Ile)	rs1886017898
NM_001243279.3(ACSF3):c.1003del (p.Leu335fs)	rs2151453936
NM_001243279.3(ACSF3):c.1028G>A (p.Trp343Ter)	rs1131691498
NM_001243279.3(ACSF3):c.1110del (p.Ala371fs)	rs2151454690
NM_001243279.3(ACSF3):c.1172C>G (p.Ser391Ter)
NM_001243279.3(ACSF3):c.1270del (p.Glu424fs)	rs775794698
NM_001243279.3(ACSF3):c.1296del (p.Arg434fs)	rs764608253
NM_001243279.3(ACSF3):c.1328del (p.Thr443fs)	rs2151521127
NM_001243279.3(ACSF3):c.1378dup (p.Val460fs)	rs751342087
NM_001243279.3(ACSF3):c.1385_1407delinsCGGAT (p.Lys462_Arg469delinsThrAsp)
NM_001243279.3(ACSF3):c.1546dup (p.Val516fs)
NM_001243279.3(ACSF3):c.155_161del (p.Ala52fs)	rs745684193
NM_001243279.3(ACSF3):c.1607G>A (p.Trp536Ter)	rs779820462
NM_001243279.3(ACSF3):c.1609del (p.Ala537fs)	rs1912887899
NM_001243279.3(ACSF3):c.16del (p.Val6fs)	rs1338859307
NM_001243279.3(ACSF3):c.261del (p.Cys88fs)	rs775569136
NM_001243279.3(ACSF3):c.408T>G (p.Tyr136Ter)	rs1313088429
NM_001243279.3(ACSF3):c.575G>A (p.Trp192Ter)
NM_001243279.3(ACSF3):c.690G>A (p.Trp230Ter)	rs1432097143
NM_001243279.3(ACSF3):c.757dup (p.Ala253fs)	rs1975494455
NM_001243279.3(ACSF3):c.803del (p.Pro268fs)	rs767946490
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter)	rs2151444797
NM_001243279.3(ACSF3):c.909C>G (p.Tyr303Ter)
NM_001243279.3(ACSF3):c.940C>T (p.Gln314Ter)
NM_001244008.2(KIF1A):c.38G>A (p.Arg13His)	rs797045050
NM_001244008.2(KIF1A):c.647G>C (p.Arg216Pro)	rs672601368
NM_001244008.2(KIF1A):c.947G>A (p.Arg316Gln)	rs749718096
NM_001244710.2(GFPT1):c.*22C>A	rs199678034
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys)	rs150857620
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly)	rs144712077
NM_001271.4(CHD2):c.1937G>A (p.Gly646Glu)	rs1567141162
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln)	rs1567149946
NM_001277062.2(MFF):c.856T>C (p.Trp286Arg)	rs2076297587
NM_001278716.2(FBXL4):c.1652T>A (p.Ile551Asn)	rs1554215979
NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met)	rs1554215959
NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys)	rs1489114116
NM_001282534.2(KCNK9):c.392G>A (p.Arg131His)	rs867543866
NM_001283009.2(RTEL1):c.2141+5G>A	rs398123050
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu)	rs1470145133
NM_001283009.2(RTEL1):c.396-74A>C	rs1555899773
NM_001292034.3(TAB2):c.1764+1G>A	rs1782223593
NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter)	rs1479104927
NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln)	rs878853045
NM_001303256.3(MORC2):c.71C>T (p.Thr24Ile)	rs1602510214
NM_001317778.2(SFTPC):c.548G>A (p.Cys183Tyr)	rs1827914094
NM_001320.7(CSNK2B):c.467G>A (p.Gly156Asp)	rs2151188873
NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs)	rs1555955290
NM_001323289.2(CDKL5):c.454T>C (p.Cys152Arg)	rs1602272932
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001347721.2(DYRK1A):c.707T>G (p.Leu236Arg)	rs797044525
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter)	rs148324626
NM_001352514.2(HLCS):c.1083T>A (p.Cys361Ter)
NM_001352514.2(HLCS):c.1133del (p.Gln378fs)
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)	rs119103227
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter)	rs1393866282
NM_001352514.2(HLCS):c.1600_1604del (p.Tyr534fs)
NM_001352514.2(HLCS):c.1631del (p.Asp544fs)
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter)	rs1342457304
NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer)	rs1555930523
NM_001352514.2(HLCS):c.1869del (p.Thr624fs)	rs2065031709
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)	rs119103231
NM_001352514.2(HLCS):c.513dup (p.Thr172fs)
NM_001352514.2(HLCS):c.726dup (p.Val243fs)
NM_001352514.2(HLCS):c.863del (p.Ser288fs)	rs1015594025
NM_001352514.2(HLCS):c.958del (p.Gln320fs)
NM_001353921.2(ARHGEF9):c.816-9T>C	rs1057522347
NM_001354604.2(MITF):c.1230G>A (p.Thr410=)	rs1057521096
NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln)	rs1057518707
NM_001356.5(DDX3X):c.1595C>T (p.Thr532Met)	rs1064795387
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys)	rs1555954284
NM_001356.5(DDX3X):c.596G>A (p.Arg199His)
NM_001358530.2(MOCS1):c.1150+1G>T	rs2149398895
NM_001358530.2(MOCS1):c.291del (p.Ala99fs)	rs755808099
NM_001358530.2(MOCS1):c.306_309dup (p.Thr104fs)
NM_001358530.2(MOCS1):c.664C>T (p.Arg222Ter)
NM_001360.3(DHCR7):c.1066del (p.His356fs)	rs774291653
NM_001360.3(DHCR7):c.1112G>A (p.Trp371Ter)	rs1591107421
NM_001360.3(DHCR7):c.1290C>G (p.Tyr430Ter)	rs140791666
NM_001360.3(DHCR7):c.1328G>A (p.Arg443His)	rs781687341
NM_001360.3(DHCR7):c.355del (p.His119fs)	rs747827699
NM_001360.3(DHCR7):c.385_412+5del	rs746482788
NM_001360.3(DHCR7):c.461C>T (p.Thr154Met)	rs143312232
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg)	rs121909764
NM_001360.3(DHCR7):c.740C>T (p.Ala247Val)	rs886041354
NM_001360.3(DHCR7):c.808A>G (p.Met270Val)	rs1555146021
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu)	rs80338858
NM_001360.3(DHCR7):c.963+1G>T	rs1057516973
NM_001360.3(DHCR7):c.964-1G>C	rs138659167
NM_001360.3(DHCR7):c.964-1G>T	rs138659167
NM_001363118.2(SLC52A2):c.-110-1G>A	rs1554853682
NM_001363118.2(SLC52A2):c.1088C>T (p.Pro363Leu)	rs797045202
NM_001365088.1(SLC12A6):c.1118+1G>A	rs762730861
NM_001365088.1(SLC12A6):c.571_572dup (p.Tyr192fs)	rs775111365
NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val)	rs1298484645
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr)	rs386134249
NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp)	rs778670301
NM_001370259.2(MEN1):c.1648G>T (p.Val550Leu)	rs562257963
NM_001370259.2(MEN1):c.320dup (p.Arg108fs)
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu)	rs386134259
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)	rs397514434
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)	rs672601248
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)	rs397514404
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg)	rs397514408
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter)	rs397514416
NM_001370658.1(BTD):c.1264del (p.Val422fs)	rs1057517362
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs)	rs1553654142
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro)	rs181396238
NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter)	rs1559600871
NM_001370658.1(BTD):c.1399del (p.Trp467fs)	rs397514423
NM_001370658.1(BTD):c.1406A>G (p.Asn469Ser)
NM_001370658.1(BTD):c.1419del (p.Tyr474fs)	rs1559600938
NM_001370658.1(BTD):c.1503del (p.Arg502fs)	rs1163419871
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)	rs80338686
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)	rs397514348
NM_001370658.1(BTD):c.333del (p.Phe111fs)	rs397514356
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)	rs80338684
NM_001370658.1(BTD):c.399G>A (p.Glu133=)	rs397514360
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)	rs750363004
NM_001370658.1(BTD):c.527del (p.Thr176fs)	rs1553653680
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)	rs397514376
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)	rs397507174
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr)	rs397514380
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)	rs587783005
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter)	rs148031701
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)	rs397514389
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro)	rs1157567876
NM_001370658.1(BTD):c.932_941del (p.His311fs)	rs773137513
NM_001374385.1(ATP8B1):c.1891C>T (p.Arg631Ter)	rs775370485
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)	rs797045277
NM_001377.3(DYNC2H1):c.8310T>G (p.Tyr2770Ter)	rs1437320571
NM_001378030.1(CCDC78):c.1134-19C>T	rs1320283995
NM_001378120.1(MBD5):c.4548T>C (p.Thr1516=)	rs1681478115
NM_001378418.1(TCF20):c.2568dup (p.Gly857fs)
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met)	rs797044955
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)	rs886039392
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg)	rs1721483506
NM_001379110.1(SLC9A6):c.1080+17A>G	rs2070960570
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)	rs62625014
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly)	rs137853003
NM_001384732.1(CPLANE1):c.7367C>T (p.Pro2456Leu)	rs146595129
NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu)	rs559623184
NM_001393769.1(MED12L):c.3664+2T>G
NM_001395413.1(POR):c.1405G>C (p.Val469Leu)	rs72557946
NM_001429.4(EP300):c.2660C>T (p.Thr887Ile)	rs953108559
NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs)	rs745744124
NM_001567.4(INPPL1):c.2213-2A>C	rs1948918434
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys)	rs1568060200
NM_001658.4(ARF1):c.278A>G (p.Asp93Gly)	rs2124857932
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn)	rs587777620
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile)	rs587777620
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys)	rs864309721
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser)	rs587780588
NM_001848.3(COL6A1):c.1226C>A (p.Ala409Glu)	rs765826390
NM_001848.3(COL6A1):c.930+189C>T	rs1556425596
NM_001863.5(COX6B1):c.58C>T (p.Arg20Cys)	rs778740017
NM_001875.5(CPS1):c.306_311dup (p.Asn103_Gly104dup)	rs1288123680
NM_001875.5(CPS1):c.74C>A (p.Ala25Glu)
NM_001876.4(CPT1A):c.1163+2T>C	rs1555229059
NM_001876.4(CPT1A):c.1328dup (p.Leu444fs)	rs2153997913
NM_001876.4(CPT1A):c.1879G>T (p.Glu627Ter)
NM_001876.4(CPT1A):c.2018_2022del (p.Pro672_Phe673insTer)	rs1163935346
NM_001876.4(CPT1A):c.222C>A (p.Tyr74Ter)	rs398123654
NM_001876.4(CPT1A):c.693+1G>A	rs1055176086
NM_001918.5(DBT):c.1343G>A (p.Trp448Ter)	rs749366506
NM_001918.5(DBT):c.143_146dup (p.His49fs)	rs1384034981
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del)	rs1217050849
NM_001918.5(DBT):c.29G>A (p.Trp10Ter)	rs572340170
NM_001918.5(DBT):c.457del (p.Thr153fs)
NM_001918.5(DBT):c.51+1G>C
NM_001918.5(DBT):c.725C>G (p.Ser242Ter)	rs201559874
NM_001918.5(DBT):c.828del (p.Phe276fs)
NM_001943.5(DSG2):c.3052dup (p.Glu1018fs)	rs1261674855
NM_001953.5(TYMP):c.1187CGCTGG[1] (p.Ala398_Leu399del)	rs786205098
NM_001953.5(TYMP):c.1198_1203del (p.Val400_Leu401del)	rs1027855768
NM_001953.5(TYMP):c.1301-1G>A	rs773785934
NM_001953.5(TYMP):c.323G>A (p.Trp108Ter)
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp)	rs1064792872
NM_001985.3(ETFB):c.253C>T (p.Arg85Ter)	rs187424345
NM_001985.3(ETFB):c.406C>T (p.Gln136Ter)
NM_001985.3(ETFB):c.61C>T (p.Arg21Ter)
NM_001985.3(ETFB):c.61del (p.Arg21fs)
NM_001999.4(FBN2):c.3437A>G (p.Tyr1146Cys)	rs1750918319
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)	rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)	rs558269137
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter)	rs138726443
NM_002016.2(FLG):c.7945del (p.Ser2649fs)	rs538406713
NM_002055.5(GFAP):c.197G>A (p.Arg66Gln)	rs797044569
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)	rs869312823
NM_002225.5(IVD):c.1030G>A (p.Ala344Thr)
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn)	rs398123679
NM_002225.5(IVD):c.109G>A (p.Asp37Asn)	rs2141289961
NM_002225.5(IVD):c.1179del (p.Leu394fs)	rs786204613
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter)	rs398123681
NM_002225.5(IVD):c.148C>T (p.Arg50Cys)	rs34695403
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)	rs2229311
NM_002225.5(IVD):c.457-2A>G	rs771914739
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup)	rs796051982
NM_002225.5(IVD):c.467G>C (p.Gly156Ala)	rs1221254988
NM_002225.5(IVD):c.599del (p.Pro200fs)	rs1566936542
NM_002225.5(IVD):c.618del (p.Ile206fs)	rs781630355
NM_002225.5(IVD):c.850C>T (p.Arg284Trp)
NM_002225.5(IVD):c.870dup (p.Pro291fs)	rs759159766
NM_002225.5(IVD):c.960G>T (p.Gln320His)	rs367814475
NM_002233.4(KCNA4):c.266G>A (p.Arg89Gln)	rs779101828
NM_002397.5(MEF2C):c.137T>A (p.Ile46Asn)	rs1799660837
NM_002435.3(MPI):c.1022dup (p.Val342fs)	rs765310894
NM_002435.3(MPI):c.1023del (p.Val342fs)	rs1555479441
NM_002435.3(MPI):c.1054del	rs752976348
NM_002435.3(MPI):c.1087del (p.Ala363fs)	rs2141209567
NM_002435.3(MPI):c.166dup (p.Arg56fs)	rs786204593
NM_002435.3(MPI):c.339_342dup (p.Lys115Ter)	rs1661886822
NM_002435.3(MPI):c.413T>C (p.Met138Thr)	rs104894495
NM_002435.3(MPI):c.679G>T (p.Gly227Ter)
NM_002435.3(MPI):c.713del (p.Leu238fs)	rs745432667
NM_002435.3(MPI):c.84_88del (p.Arg29fs)	rs753839890
NM_002435.3(MPI):c.880dup (p.Val294fs)	rs1555479351
NM_002470.4(MYH3):c.2015G>A (p.Arg672His)	rs121913617
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs)	rs764884516
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs)	rs766044684
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)	rs864622143
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs)	rs762664474
NM_002485.5(NBN):c.340G>T (p.Val114Phe)	rs771034958
NM_002485.5(NBN):c.584+2T>C	rs1586101154
NM_002528.7(NTHL1):c.164_165del (p.Arg55fs)	rs1290880136
NM_002528.7(NTHL1):c.199A>T (p.Lys67Ter)
NM_002528.7(NTHL1):c.203del (p.Gly68fs)	rs1555492819
NM_002528.7(NTHL1):c.211dup (p.Ala71fs)	rs745671590
NM_002528.7(NTHL1):c.232del (p.Val78fs)	rs1314290585
NM_002528.7(NTHL1):c.350del (p.Pro117fs)	rs763525759
NM_002528.7(NTHL1):c.350dup (p.Val119fs)	rs763525759
NM_002528.7(NTHL1):c.391_392del (p.Ser131fs)	rs1596220478
NM_002528.7(NTHL1):c.625_626del (p.Val209fs)	rs2150941243
NM_002529.4(NTRK1):c.360-2A>C	rs797045059
NM_002617.4(PEX10):c.157_158del (p.Ser53fs)	rs1384671249
NM_002617.4(PEX10):c.219C>G (p.Tyr73Ter)	rs531987102
NM_002617.4(PEX10):c.295del (p.His99fs)	rs1557910651
NM_002617.4(PEX10):c.338del (p.Leu113fs)	rs878853044
NM_002617.4(PEX10):c.401_416dup (p.Gly140fs)	rs2100429011
NM_002617.4(PEX10):c.408_423dup (p.Arg142fs)
NM_002617.4(PEX10):c.551del (p.Ile184fs)	rs1557910202
NM_002617.4(PEX10):c.601-38_601-37del	rs1553231896
NM_002617.4(PEX10):c.703C>T (p.Gln235Ter)	rs1295555837
NM_002617.4(PEX10):c.746G>A (p.Trp249Ter)
NM_002617.4(PEX10):c.755_756del (p.His252fs)	rs1325771720
NM_002617.4(PEX10):c.8del (p.Pro3fs)
NM_002617.4(PEX10):c.912+1G>C	rs1553231739
NM_002641.4(PIGA):c.241C>T (p.Arg81Cys)	rs1569180071
NM_002691.4(POLD1):c.1421T>C (p.Leu474Pro)	rs587777627
NM_002691.4(POLD1):c.1433G>A (p.Ser478Asn)	rs397514632
NM_002693.3(POLG):c.1276G>A (p.Gly426Ser)	rs775576189
NM_002693.3(POLG):c.172C>T (p.Gln58Ter)	rs2055625602
NM_002693.3(POLG):c.2293C>A (p.Pro765Thr)	rs1003442806
NM_002693.3(POLG):c.2395del (p.Ser799fs)	rs796052919
NM_002693.3(POLG):c.2584G>A (p.Ala862Thr)	rs778429780
NM_002693.3(POLG):c.2606G>A (p.Arg869Gln)	rs1356604153
NM_002693.3(POLG):c.264C>G (p.Phe88Leu)	rs144439703
NM_002693.3(POLG):c.2869G>T (p.Ala957Ser)	rs121918051
NM_002693.3(POLG):c.2884dup (p.Ala962fs)	rs1252078081
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)	rs121918049
NM_002693.3(POLG):c.3240_3242dup (p.Arg1081dup)	rs1064794213
NM_002693.3(POLG):c.3358_3361dup (p.Glu1121delinsValTer)	rs1064793800
NM_002693.3(POLG):c.3482+2T>C	rs1466226819
NM_002693.3(POLG):c.3538_3539dup (p.Ala1182fs)
NM_002693.3(POLG):c.824G>A (p.Arg275Gln)	rs1555453950
NM_002693.3(POLG):c.830A>T (p.His277Leu)	rs138929605
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val)	rs397507509
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)	rs121918461
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)	rs121918454
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys)	rs121918464
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala)	rs397507519
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	rs397507520
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	rs121918456
NM_002838.5(PTPRC):c.2142+7A>G	rs764731559
NM_002878.4(RAD51D):c.270_271dup (p.Lys91fs)	rs753862052
NM_002878.4(RAD51D):c.330dup (p.Ser111Ter)	rs786202434
NM_002878.4(RAD51D):c.463C>T (p.Gln155Ter)	rs1555568293
NM_002878.4(RAD51D):c.576+1G>T	rs781161543
NM_002878.4(RAD51D):c.671T>A (p.Leu224Ter)	rs1567726305
NM_002878.4(RAD51D):c.694_697dup (p.Glu233fs)	rs2142418516
NM_002878.4(RAD51D):c.738+14C>T	rs374761868
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter)	rs137886232
NM_002878.4(RAD51D):c.772_778del (p.Gly258fs)	rs1064795045
NM_002878.4(RAD51D):c.81del (p.Val28fs)	rs1064793952
NM_002878.4(RAD51D):c.94_95del (p.Val32fs)	rs786203137
NM_002880.4(RAF1):c.776C>G (p.Ser259Cys)	rs397516827
NM_002887.4(RARS1):c.2T>C (p.Met1Thr)	rs769713780
NM_002913.5(RFC1):c.1147C>T (p.Arg383Ter)
NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter)	rs1597229404
NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln)	rs794726859
NM_003060.4(SLC22A5):c.1084del (p.Ser362fs)	rs1580892239
NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu)	rs886042092
NM_003060.4(SLC22A5):c.1158del (p.Tyr387fs)	rs1580892402
NM_003060.4(SLC22A5):c.1175TGC[2] (p.Leu394del)	rs386134215
NM_003060.4(SLC22A5):c.1240del (p.Leu414fs)	rs2126789878
NM_003060.4(SLC22A5):c.1298T>C (p.Met433Thr)	rs779385095
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile)	rs267607053
NM_003060.4(SLC22A5):c.1347del (p.Val448_Tyr449insTer)
NM_003060.4(SLC22A5):c.1350del (p.Ala451fs)	rs2126791456
NM_003060.4(SLC22A5):c.1403C>G (p.Thr468Arg)	rs386134221
NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His)	rs386134223
NM_003060.4(SLC22A5):c.1433C>T (p.Pro478Leu)	rs72552735
NM_003060.4(SLC22A5):c.160_166dup (p.Ala56fs)	rs1057516797
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)	rs72552726
NM_003060.4(SLC22A5):c.394-1G>T	rs1057517106
NM_003060.4(SLC22A5):c.42G>A (p.Trp14Ter)	rs796052036
NM_003060.4(SLC22A5):c.497+1G>A
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp)	rs121908890
NM_003060.4(SLC22A5):c.52del (p.Gln18fs)	rs1022453298
NM_003060.4(SLC22A5):c.538C>G (p.Gln180Glu)	rs1437174685
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro)	rs72552723
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val)	rs386134199
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del)	rs377767444
NM_003060.4(SLC22A5):c.700G>C (p.Gly234Arg)
NM_003060.4(SLC22A5):c.740C>G (p.Pro247Arg)	rs2126783802
NM_003060.4(SLC22A5):c.791C>G (p.Thr264Arg)	rs201262157
NM_003060.4(SLC22A5):c.797C>T (p.Pro266Leu)	rs538372785
NM_003060.4(SLC22A5):c.825G>A (p.Trp275Ter)	rs386134207
NM_003060.4(SLC22A5):c.844dup (p.Arg282fs)	rs386134209
NM_003070.5(SMARCA2):c.2348C>T (p.Ser783Leu)	rs1554623112
NM_003070.5(SMARCA2):c.2361C>A (p.Asn787Lys)	rs1343138502
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys)	rs2086534839
NM_003072.5(SMARCA4):c.1408C>T (p.Gln470Ter)	rs1555757738
NM_003072.5(SMARCA4):c.229G>T (p.Glu77Ter)	rs1568419675
NM_003072.5(SMARCA4):c.2704G>A (p.Val902Met)	rs1600278307
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His)	rs770680174
NM_003072.5(SMARCA4):c.407C>T (p.Ala136Val)	rs535299273
NM_003072.5(SMARCA4):c.4636-10C>A	rs878854228
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn)	rs1568963037
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His)	rs398122368
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln)	rs1057517825
NM_003079.5(SMARCE1):c.92del (p.Tyr31fs)	rs2144009190
NM_003108.4(SOX11):c.700G>T (p.Glu234Ter)	rs780122780
NM_003119.4(SPG7):c.1186G>T (p.Glu396Ter)	rs2058358241
NM_003227.4(TFR2):c.313C>T (p.Arg105Ter)	rs80338878
NM_003238.6(TGFB2):c.458G>A (p.Arg153His)	rs1057518684
NM_003309.4(TSPYL1):c.725_726del (p.Val242fs)	rs775957625
NM_003392.7(WNT5A):c.206G>A (p.Cys69Tyr)	rs786204837
NM_003392.7(WNT5A):c.461G>T (p.Cys154Phe)	rs2051315439
NM_003394.4(WNT10B):c.338-1G>C	rs1163162816
NM_003470.3(USP7):c.3043G>A (p.Glu1015Lys)
NM_003482.4(KMT2D):c.13324G>A (p.Ala4442Thr)
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys)	rs398123724
NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His)	rs886041404
NM_003482.4(KMT2D):c.8059C>T (p.Arg2687Ter)	rs1555191598
NM_003482.4(KMT2D):c.8241C>A (p.Ser2747Arg)	rs1943376258
NM_003491.4(NAA10):c.215T>C (p.Ile72Thr)	rs1057519448
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)	rs727503909
NM_003506.4(FZD6):c.869A>G (p.Tyr290Cys)	rs786205672
NM_003560.4(PLA2G6):c.1592-2A>C	rs1465629909
NM_003560.4(PLA2G6):c.755del (p.Asn252fs)	rs587784361
NM_003659.4(AGPS):c.1256G>A (p.Arg419His)	rs121434411
NM_003659.4(AGPS):c.926C>T (p.Thr309Ile)	rs121434412
NM_003664.5(AP3B1):c.1945C>T (p.Arg649Ter)
NM_003664.5(AP3B1):c.2640del (p.Gly881fs)
NM_003709.4(KLF7):c.410C>T (p.Thr137Met)	rs1276619385
NM_003718.5(CDK13):c.2251C>T (p.Arg751Ter)	rs1295790880
NM_003718.5(CDK13):c.484dup (p.Ala162fs)	rs1405252481
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val)	rs104894709
NM_003721.4(RFXANK):c.713-1G>A	rs2060720733
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer)	rs56126236
NM_003748.4(ALDH4A1):c.866+1G>A	rs78532707
NM_003764.4(STX11):c.391C>T (p.Gln131Ter)	rs794729649
NM_003764.4(STX11):c.484C>T (p.Gln162Ter)
NM_003764.4(STX11):c.645dup (p.Arg216fs)
NM_003764.4(STX11):c.83C>A (p.Ser28Ter)	rs143547259
NM_003919.3(SGCE):c.551T>C (p.Leu184Pro)	rs1064794321
NM_003924.4(PHOX2B):c.385G>A (p.Glu129Lys)	rs1560466246
NM_003924.4(PHOX2B):c.741_758dup (p.Ala255_Ala260dup)	rs771383153
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter)	rs121908356
NM_003982.4(SLC7A7):c.106_108del (p.Glu36del)	rs386833796
NM_003982.4(SLC7A7):c.1185_1188del (p.Ser396fs)	rs386833800
NM_003982.4(SLC7A7):c.1263_1269del (p.Ile422fs)	rs2139383552
NM_003982.4(SLC7A7):c.1395del (p.Glu465fs)	rs1290445670
NM_003982.4(SLC7A7):c.215_218del (p.Ser72fs)	rs386833812
NM_003982.4(SLC7A7):c.516del (p.Asn173fs)	rs2038690553
NM_003982.4(SLC7A7):c.539del (p.Gly180fs)	rs1414333836
NM_003982.4(SLC7A7):c.573del (p.Val192fs)
NM_003982.4(SLC7A7):c.622C>T (p.Gln208Ter)	rs386833821
NM_003982.4(SLC7A7):c.625+1G>T	rs386833822
NM_003982.4(SLC7A7):c.70del (p.Ala24fs)
NM_003982.4(SLC7A7):c.725G>A (p.Trp242Ter)	rs2038664064
NM_003982.4(SLC7A7):c.766G>T (p.Glu256Ter)	rs2139394686
NM_003982.4(SLC7A7):c.895-2A>G	rs146582474
NM_003982.4(SLC7A7):c.930G>A (p.Trp310Ter)	rs2038594225
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)	rs80338944
NM_004004.6(GJB2):c.35del (p.Gly12fs)	rs80338939
NM_004006.3(DMD):c.6613_6614del (p.Arg2205fs)
NM_004040.4(RHOB):c.218C>T (p.Ser73Phe)	rs550750241
NM_004113.6(FGF12):c.155G>A (p.Arg52His)	rs886039903
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu)	rs1057518697
NM_004211.5(SLC6A5):c.323del (p.Pro108fs)	rs281864923
NM_004260.4(RECQL4):c.2086C>A (p.Arg696Ser)	rs531970883
NM_004304.5(ALK):c.4471A>C (p.Lys1491Gln)
NM_004304.5(ALK):c.7G>A (p.Ala3Thr)	rs1446332510
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile)	rs397507484
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)	rs180177042
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr)	rs796052093
NM_004373.4(COX6A1):c.247-7_247-3del	rs587777783
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)	rs267606752
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)	rs797045037
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)	rs770873593
NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter)	rs1554108431
NM_004453.4(ETFDH):c.1011del (p.Phe337fs)	rs757063739
NM_004453.4(ETFDH):c.1117-2A>G
NM_004453.4(ETFDH):c.1134del (p.Pro380fs)	rs1369800014
NM_004453.4(ETFDH):c.1136_1140del (p.Phe379fs)	rs2126309189
NM_004453.4(ETFDH):c.1433del (p.Ile477_Leu478insTer)
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln)	rs534388496
NM_004453.4(ETFDH):c.1555_1556del (p.Leu519fs)	rs1774630121
NM_004453.4(ETFDH):c.1570_1571del (p.Leu524fs)	rs727503919
NM_004453.4(ETFDH):c.1631dup (p.Pro545fs)	rs771393519
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)
NM_004453.4(ETFDH):c.251C>T (p.Ala84Val)	rs1580396712
NM_004453.4(ETFDH):c.269T>A (p.Leu90Ter)	rs749085653
NM_004453.4(ETFDH):c.34+5G>C	rs1373597092
NM_004453.4(ETFDH):c.344C>G (p.Ser115Ter)	rs2150305273
NM_004453.4(ETFDH):c.405+3A>G	rs796051965
NM_004453.4(ETFDH):c.430G>T (p.Glu144Ter)
NM_004453.4(ETFDH):c.462C>G (p.Tyr154Ter)	rs878853082
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly)	rs549150456
NM_004453.4(ETFDH):c.488-1G>T	rs2150306551
NM_004453.4(ETFDH):c.560C>T (p.Ala187Val)	rs369912835
NM_004453.4(ETFDH):c.56del (p.Ala18_Leu19insTer)	rs2150304339
NM_004453.4(ETFDH):c.583_584dup (p.Pro196fs)	rs2150306625
NM_004453.4(ETFDH):c.643G>A (p.Ala215Thr)
NM_004453.4(ETFDH):c.665A>C (p.Gln222Pro)	rs1482632936
NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe)	rs1450977775
NM_004453.4(ETFDH):c.972+1del
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_004553.6(NDUFS6):c.344G>A (p.Cys115Tyr)	rs267606913
NM_004628.5(XPC):c.103+1G>A	rs1423398589
NM_004628.5(XPC):c.1872+1G>C	rs1559374923
NM_004628.5(XPC):c.2216_2217del (p.Glu739fs)	rs1559369237
NM_004628.5(XPC):c.566_567del (p.Tyr189fs)	rs752088918
NM_004628.5(XPC):c.622-2A>G	rs201940931
NM_004628.5(XPC):c.958C>T (p.Gln320Ter)	rs867461743
NM_004629.2(FANCG):c.1158dup (p.Ser387fs)	rs757418016
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter)	rs1384748892
NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter)	rs1829041127
NM_004629.2(FANCG):c.1771dup (p.Leu591fs)	rs746392434
NM_004629.2(FANCG):c.212T>C (p.Leu71Pro)	rs1829130135
NM_004629.2(FANCG):c.552dup (p.Ser185fs)	rs1412207017
NM_004629.2(FANCG):c.619del (p.Leu207fs)
NM_004629.2(FANCG):c.908T>C (p.Leu303Pro)	rs1563986439
NM_004646.4(NPHS1):c.1020del (p.Ser341fs)	rs1555763372
NM_004646.4(NPHS1):c.1040G>A (p.Gly347Glu)	rs386833862
NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg)	rs386833864
NM_004646.4(NPHS1):c.1234G>T (p.Gly412Cys)	rs142008044
NM_004646.4(NPHS1):c.1307_1308dup (p.Val437fs)	rs386833878
NM_004646.4(NPHS1):c.1337T>A (p.Ile446Asn)	rs386833879
NM_004646.4(NPHS1):c.1394G>A (p.Cys465Tyr)	rs386833881
NM_004646.4(NPHS1):c.139del (p.Ala47fs)	rs386833882
NM_004646.4(NPHS1):c.2071+2T>C	rs386833901
NM_004646.4(NPHS1):c.2072-6C>G	rs200253809
NM_004646.4(NPHS1):c.2156_2163del (p.Leu719fs)	rs386833903
NM_004646.4(NPHS1):c.2160dup (p.Cys721fs)	rs386833904
NM_004646.4(NPHS1):c.2172_2173del (p.Glu725fs)	rs386833906
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp)	rs386833911
NM_004646.4(NPHS1):c.248dup (p.Tyr83Ter)	rs386833914
NM_004646.4(NPHS1):c.2515del (p.Gln839fs)	rs386833918
NM_004646.4(NPHS1):c.2549_2558del (p.Ala850fs)	rs386833919
NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs)	rs386833921
NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys)	rs778951863
NM_004646.4(NPHS1):c.2928-3del
NM_004646.4(NPHS1):c.3061dup (p.Asp1021fs)	rs34124941
NM_004646.4(NPHS1):c.3250del (p.Val1084fs)	rs386833935
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)	rs386833935
NM_004646.4(NPHS1):c.3286+5G>A	rs1555759089
NM_004646.4(NPHS1):c.3555_3574del (p.Ser1186fs)	rs767832658
NM_004646.4(NPHS1):c.3595-2A>G	rs386833940
NM_004646.4(NPHS1):c.3622_3625del (p.Asp1208fs)	rs1186290245
NM_004646.4(NPHS1):c.398-1G>A	rs386833942
NM_004646.4(NPHS1):c.479G>C (p.Cys160Ser)	rs386833944
NM_004646.4(NPHS1):c.515_517del (p.Thr172del)	rs386833947
NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter)	rs139598219
NM_004646.4(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle)	rs1555763603
NM_004646.4(NPHS1):c.619del (p.Arg207fs)	rs778217926
NM_004646.4(NPHS1):c.710T>C (p.Leu237Pro)	rs373835033
NM_004655.4(AXIN2):c.1404CCA[7] (p.His474dup)	rs570443161
NM_004656.4(BAP1):c.1869del (p.Ser623fs)
NM_004656.4(BAP1):c.2012del (p.Tyr671fs)
NM_004656.4(BAP1):c.592del (p.Glu198fs)	rs1205668341
NM_004656.4(BAP1):c.659+3A>C	rs878854741
NM_004656.4(BAP1):c.793_817dup (p.Thr273fs)
NM_004937.3(CTNS):c.225+5_225+8del	rs1555561048
NM_004937.3(CTNS):c.292dup (p.Thr98fs)	rs786204434
NM_004937.3(CTNS):c.323del (p.Gln108fs)	rs879255615
NM_004937.3(CTNS):c.329+2T>C	rs955833453
NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer)	rs1555558099
NM_004937.3(CTNS):c.559_561+24del	rs113994211
NM_004937.3(CTNS):c.561+1del	rs786204667
NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del)	rs760256854
NM_004937.3(CTNS):c.696_697dup (p.Val233fs)	rs1555563982
NM_004937.3(CTNS):c.734G>A (p.Trp245Ter)	rs763089013
NM_004937.3(CTNS):c.73A>T (p.Ser25Cys)	rs777367316
NM_004937.3(CTNS):c.771_793del (p.Gly258fs)	rs759623796
NM_004937.3(CTNS):c.809_811del (p.Ser270del)	rs786204632
NM_004937.3(CTNS):c.853-2A>G	rs1475322504
NM_004937.3(CTNS):c.926dup (p.Ser310fs)	rs786204420
NM_004946.3(DOCK2):c.3073-8A>G	rs113289730
NM_004975.4(KCNB1):c.1343T>C (p.Met448Thr)	rs1984239884
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)	rs1555889162
NM_004975.4(KCNB1):c.737T>G (p.Leu246Arg)	rs1601071839
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu)	rs193929331
NM_004991.4(MECOM):c.2812C>T (p.Arg938Trp)	rs864309724
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)	rs587776934
NM_005050.4(ABCD4):c.1667_1668del (p.Glu556fs)
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly)	rs1379395211
NM_005138.3(SCO2):c.227_230del (p.Leu76fs)
NM_005157.6(ABL1):c.689C>T (p.Pro230Leu)	rs1831097846
NM_005188.4(CBL):c.1112A>C (p.Tyr371Ser)	rs387906666
NM_005188.4(CBL):c.1228-2A>G	rs727504426
NM_005249.5(FOXG1):c.565C>G (p.Leu189Val)	rs1555321308
NM_005276.4(GPD1):c.361G>A (p.Gly121Arg)	rs35428353
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)	rs104894228
NM_005343.4(HRAS):c.386A>G (p.Gln129Arg)	rs1851242529
NM_005359.6(SMAD4):c.1309G>A (p.Val437Ile)	rs1568211172
NM_005476.7(GNE):c.1306C>T (p.Gln436Ter)	rs786204558
NM_005476.7(GNE):c.1583T>G (p.Phe528Cys)	rs986773986
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr)	rs387906347
NM_005476.7(GNE):c.2086G>A (p.Val696Met)	rs121908627
NM_005476.7(GNE):c.22C>T (p.Arg8Ter)	rs766420673
NM_005476.7(GNE):c.4G>T (p.Glu2Ter)	rs886044514
NM_005476.7(GNE):c.910G>A (p.Gly304Arg)	rs755743750
NM_005585.5(SMAD6):c.511G>T (p.Glu171Ter)	rs1893037722
NM_005585.5(SMAD6):c.706C>T (p.Gln236Ter)
NM_005585.5(SMAD6):c.817G>T (p.Glu273Ter)	rs1259557323
NM_005591.4(MRE11):c.1100_1131del (p.Val367fs)	rs1946499901
NM_005591.4(MRE11):c.1127del (p.Phe376fs)
NM_005591.4(MRE11):c.1143del (p.Phe381fs)	rs863224508
NM_005591.4(MRE11):c.1441del (p.Thr481fs)	rs747832587
NM_005591.4(MRE11):c.1458_1461del (p.Lys486fs)
NM_005591.4(MRE11):c.1532dup (p.Asn511fs)
NM_005591.4(MRE11):c.1633_1640del (p.Leu545fs)	rs876660186
NM_005591.4(MRE11):c.1868-5T>C	rs773911334
NM_005591.4(MRE11):c.1888C>T (p.Gln630Ter)	rs2134840569
NM_005591.4(MRE11):c.21-6_26del	rs587780138
NM_005591.4(MRE11):c.229G>T (p.Glu77Ter)	rs779269083
NM_005591.4(MRE11):c.504_511del (p.Leu169fs)	rs786202253
NM_005591.4(MRE11):c.571C>T (p.Arg191Ter)	rs1157413766
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys)	rs137852763
NM_005591.4(MRE11):c.784del (p.Tyr262fs)
NM_005591.4(MRE11):c.820_821del (p.Leu274fs)	rs1565228898
NM_005609.4(PYGM):c.1119T>A (p.Cys373Ter)	rs2058377004
NM_005609.4(PYGM):c.125del (p.Lys42fs)
NM_005609.4(PYGM):c.1278_1288dup (p.Ser430fs)	rs2058372554
NM_005609.4(PYGM):c.1362_1394del (p.Asn454_Leu464del)
NM_005609.4(PYGM):c.1466dup (p.Arg490fs)	rs886041476
NM_005609.4(PYGM):c.1468C>T (p.Arg490Trp)
NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter)	rs752848974
NM_005609.4(PYGM):c.1769G>A (p.Arg590His)
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del)	rs527236147
NM_005609.4(PYGM):c.21_28dup (p.Lys10fs)	rs770037766
NM_005609.4(PYGM):c.2259dup (p.Lys754fs)	rs1565531453
NM_005609.4(PYGM):c.2262del (p.Lys754fs)	rs398124210
NM_005609.4(PYGM):c.2363_2366del (p.Val788fs)	rs1565531128
NM_005609.4(PYGM):c.2379+2_2379+3delinsAT	rs2135823216
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)	rs119103258
NM_005609.4(PYGM):c.247A>T (p.Ile83Phe)
NM_005609.4(PYGM):c.251_261del (p.Tyr84fs)	rs1057516329
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter)	rs527236146
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg)	rs780246932
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp)	rs367990192
NM_005609.4(PYGM):c.425-2A>G	rs752851284
NM_005609.4(PYGM):c.501dup (p.Asn168Ter)	rs1555136390
NM_005609.4(PYGM):c.506AGA[1] (p.Lys170del)	rs764823441
NM_005609.4(PYGM):c.658_659del (p.Gln220fs)	rs766199191
NM_005609.4(PYGM):c.682del (p.Asp228fs)	rs2058388882
NM_005677.4(COLQ):c.1129del (p.Asp377fs)	rs1559511788
NM_005677.4(COLQ):c.1225dup (p.His409fs)	rs1559510978
NM_005677.4(COLQ):c.175C>T (p.Pro59Ser)
NM_005677.4(COLQ):c.379C>T (p.Arg127Ter)	rs143766249
NM_005677.4(COLQ):c.393+1G>A	rs1085307792
NM_005677.4(COLQ):c.54_57del (p.Ile20fs)	rs771879602
NM_005677.4(COLQ):c.955-2A>C
NM_005732.4(RAD50):c.1270_1271del (p.Leu424fs)	rs587781327
NM_005732.4(RAD50):c.1620_1621insAG (p.Leu541fs)	rs764968413
NM_005732.4(RAD50):c.2202del (p.Pro734_Met735insTer)	rs786201789
NM_005732.4(RAD50):c.2467C>T (p.Arg823Ter)	rs1060501936
NM_005732.4(RAD50):c.2789_2792del (p.Ile930fs)	rs587781930
NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs)	rs1060501941
NM_005859.5(PURA):c.493G>A (p.Gly165Ser)	rs1561793272
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln)	rs1376334317
NM_005908.4(MANBA):c.177+2T>C	rs779221957
NM_005909.5(MAP1B):c.2995C>T (p.Arg999Ter)
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile)	rs1555691402
NM_005957.5(MTHFR):c.233C>G (p.Ser78Ter)	rs776969786
NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs)	rs483352911
NM_005993.5(TBCD):c.1126G>A (p.Val376Met)	rs183349235
NM_006005.3(WFS1):c.2643_2644del (p.Phe883fs)	rs863224268
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs)	rs797045076
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His)	rs1057517843
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His)	rs886043627
NM_006015.6(ARID1A):c.98_107del (p.Glu33fs)	rs2124740134
NM_006016.6(CD164):c.574C>T (p.Arg192Ter)	rs876661402
NM_006019.4(TCIRG1):c.117+4A>C	rs751881962
NM_006019.4(TCIRG1):c.117+4A>T	rs751881962
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter)	rs1855655612
NM_006019.4(TCIRG1):c.1891del (p.Val631fs)	rs1300297240
NM_006019.4(TCIRG1):c.196+1G>T	rs2134432498
NM_006019.4(TCIRG1):c.2161_2163del (p.Ile721del)	rs780311417
NM_006019.4(TCIRG1):c.242del (p.Pro81fs)	rs1208311085
NM_006019.4(TCIRG1):c.418-21A>G	rs1855249165
NM_006019.4(TCIRG1):c.971dup (p.Cys324fs)	rs1565156743
NM_006086.4(TUBB3):c.689C>T (p.Ser230Leu)	rs886041459
NM_006086.4(TUBB3):c.785G>A (p.Arg262His)	rs864321716
NM_006087.4(TUBB4A):c.1164G>C (p.Met388Ile)	rs797045074
NM_006096.4(NDRG1):c.944-1G>T	rs1588216753
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg)	rs587776932
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro)	rs1762136390
NM_006261.5(PROP1):c.109+1G>T	rs1214465435
NM_006261.5(PROP1):c.112_124del (p.Ser38fs)	rs587776682
NM_006261.5(PROP1):c.301_302del (p.Leu102fs)	rs193922688
NM_006261.5(PROP1):c.310del (p.Arg104fs)	rs786204663
NM_006261.5(PROP1):c.582G>A (p.Trp194Ter)	rs121917845
NM_006261.5(PROP1):c.611del (p.Gly204fs)	rs1554182368
NM_006261.5(PROP1):c.629dup (p.Pro211fs)	rs761018422
NM_006267.5(RANBP2):c.3363G>T (p.Lys1121Asn)	rs112835359
NM_006280.3(SSR4):c.417+1G>A	rs1057518735
NM_006306.4(SMC1A):c.3103C>T (p.Arg1035Ter)	rs1556886124
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys)	rs587784422
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln)	rs753679297
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser)	rs386833975
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer)	rs587780315
NM_006493.4(CLN5):c.625T>G (p.Tyr209Asp)	rs386833981
NM_006493.4(CLN5):c.777_778del (p.Phe260fs)	rs786204644
NM_006493.4(CLN5):c.808_823del (p.Gly270fs)	rs386833983
NM_006493.4(CLN5):c.84G>A (p.Trp28Ter)	rs200348035
NM_006493.4(CLN5):c.924_925del (p.Leu309fs)	rs386833964
NM_006493.4(CLN5):c.936del (p.Phe312fs)	rs386833966
NM_006493.4(CLN5):c.990G>T (p.Trp330Cys)	rs386833968
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)	rs80359818
NM_006772.3(SYNGAP1):c.1898T>C (p.Leu633Pro)	rs1761021165
NM_006772.3(SYNGAP1):c.2206C>T (p.Arg736Cys)	rs1202720979
NM_006772.3(SYNGAP1):c.3635C>T (p.Ser1212Phe)	rs1761209473
NM_006772.3(SYNGAP1):c.4003G>A (p.Gly1335Ser)	rs1761351808
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter)	rs1057518352
NM_006785.4(MALT1):c.1401-15G>T	rs371051170
NM_006859.4(LIAS):c.76A>G (p.Arg26Gly)	rs773069554
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr)	rs869025191
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)	rs1057518801
NM_006940.6(SOX5):c.1411C>T (p.Arg471Ter)	rs1592099852
NM_006949.4(STXBP2):c.1138G>T (p.Glu380Ter)
NM_006949.4(STXBP2):c.1452+1G>A
NM_006949.4(STXBP2):c.1525C>T (p.Gln509Ter)	rs760061071
NM_006949.4(STXBP2):c.1586G>A (p.Arg529Gln)	rs35490401
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)	rs61736587
NM_006949.4(STXBP2):c.474_483delinsGA (p.Cys158fs)	rs1599397070
NM_006949.4(STXBP2):c.703C>G (p.Arg235Gly)	rs753879238
NM_006949.4(STXBP2):c.80del (p.Glu27fs)
NM_006949.4(STXBP2):c.87+2T>C
NM_006950.3(SYN1):c.1647_1650dup (p.Ser551fs)
NM_007055.4(POLR3A):c.1771-7C>G	rs201314157
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser)	rs1747669042
NM_007194.4(CHEK2):c.1046dup (p.Pro350fs)	rs2145817185
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs)	rs2052563898
NM_007194.4(CHEK2):c.1126G>T (p.Gly376Ter)
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys)	rs200928781
NM_007194.4(CHEK2):c.1209_1233del (p.Tyr404fs)	rs1555913672
NM_007194.4(CHEK2):c.1259+1G>C	rs121908707
NM_007194.4(CHEK2):c.1259G>A (p.Cys420Tyr)	rs578218280
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs)	rs1569112324
NM_007194.4(CHEK2):c.1290dup (p.Arg431Ter)	rs771772104
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter)	rs778989252
NM_007194.4(CHEK2):c.1452del (p.Trp485fs)	rs2145784297
NM_007194.4(CHEK2):c.1455G>A (p.Trp485Ter)	rs1601715852
NM_007194.4(CHEK2):c.1462-2A>G	rs587782575
NM_007194.4(CHEK2):c.14_20del (p.Ser5fs)	rs757016287
NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs)	rs587782707
NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter)	rs587782489
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)	rs200432447
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter)	rs768384031
NM_007194.4(CHEK2):c.247del (p.Gln83fs)	rs587782766
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter)	rs1349961118
NM_007194.4(CHEK2):c.320-1G>T	rs864622613
NM_007194.4(CHEK2):c.432del (p.Arg145fs)	rs1555927148
NM_007194.4(CHEK2):c.444+1del	rs1064793780
NM_007194.4(CHEK2):c.444+2T>C	rs560596101
NM_007194.4(CHEK2):c.449del (p.Val150fs)	rs1601824270
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)	rs587782008
NM_007194.4(CHEK2):c.591del (p.Val198fs)	rs587782245
NM_007194.4(CHEK2):c.593-1G>C	rs786203229
NM_007194.4(CHEK2):c.606dup (p.Asp203Ter)	rs886039609
NM_007194.4(CHEK2):c.616_617del (p.Val206fs)	rs1346554630
NM_007194.4(CHEK2):c.625C>T (p.Gln209Ter)	rs1569149953
NM_007194.4(CHEK2):c.683+1G>T	rs786203650
NM_007194.4(CHEK2):c.696dup (p.Glu233fs)	rs1601784008
NM_007194.4(CHEK2):c.700_712del (p.Val234fs)
NM_007194.4(CHEK2):c.726_727del (p.Thr242_Cys243insTer)	rs1392940377
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter)	rs786201896
NM_007194.4(CHEK2):c.793-1G>A	rs730881687
NM_007194.4(CHEK2):c.823del (p.Glu275fs)	rs769430546
NM_007194.4(CHEK2):c.846+1G>T	rs864622149
NM_007194.4(CHEK2):c.846+4_846+7del	rs764884641
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter)	rs886039739
NM_007194.4(CHEK2):c.906del (p.Glu302fs)	rs2052974883
NM_007194.4(CHEK2):c.919_920del (p.Gly307fs)	rs786203053
NM_007255.3(B4GALT7):c.277dup (p.His93fs)	rs879255634
NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys)	rs80356880
NM_007294.4(BRCA1):c.115T>A (p.Cys39Ser)	rs80357164
NM_007294.4(BRCA1):c.121C>T (p.His41Tyr)	rs1060502353
NM_007294.4(BRCA1):c.122A>G (p.His41Arg)	rs80357276
NM_007294.4(BRCA1):c.122A>T (p.His41Leu)	rs80357276
NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr)	rs80357446
NM_007294.4(BRCA1):c.134+3A>C	rs80358064
NM_007294.4(BRCA1):c.139dup (p.Cys47fs)	rs80357734
NM_007294.4(BRCA1):c.1505_1509del (p.Leu502fs)	rs876659139
NM_007294.4(BRCA1):c.154C>A (p.Leu52Ile)	rs80357084
NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg)	rs28897672
NM_007294.4(BRCA1):c.182G>A (p.Cys61Tyr)	rs80357093
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg)	rs80357064
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)	rs55851803
NM_007294.4(BRCA1):c.1923dup (p.Asp642Ter)	rs878854935
NM_007294.4(BRCA1):c.1978del (p.Val660fs)	rs886039988
NM_007294.4(BRCA1):c.2043dup (p.Asn682Ter)	rs863224510
NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter)	rs80357298
NM_007294.4(BRCA1):c.2331_2332dup (p.Gly778fs)	rs431825390
NM_007294.4(BRCA1):c.2346dup (p.Ile783fs)	rs886040027
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs)	rs80357596
NM_007294.4(BRCA1):c.2912_2913del (p.His971fs)	rs878854940
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs)	rs80357635
NM_007294.4(BRCA1):c.3342_3345del (p.Glu1114_Glu1115insTer)	rs397509058
NM_007294.4(BRCA1):c.346del (p.Glu116fs)	rs762635795
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)	rs80357868
NM_007294.4(BRCA1):c.3853del (p.Ser1286fs)	rs397507222
NM_007294.4(BRCA1):c.3895C>T (p.Gln1299Ter)	rs80357038
NM_007294.4(BRCA1):c.403A>T (p.Lys135Ter)	rs879255485
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)	rs80357508
NM_007294.4(BRCA1):c.4096+3A>G	rs80358015
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer)	rs80357572
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)	rs80357260
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)	rs41293455
NM_007294.4(BRCA1):c.4386dup (p.Tyr1463fs)	rs786204267
NM_007294.4(BRCA1):c.4484+1G>A	rs80358063
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)	rs80357389
NM_007294.4(BRCA1):c.4485-2A>G	rs80358054
NM_007294.4(BRCA1):c.4821del (p.Ala1608fs)	rs2153836342
NM_007294.4(BRCA1):c.4986+3G>C	rs80358023
NM_007294.4(BRCA1):c.4986+4A>T	rs80358087
NM_007294.4(BRCA1):c.4986+6T>G	rs80358086
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)	rs80358343
NM_007294.4(BRCA1):c.5054_5057dup (p.Val1687fs)	rs879254050
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del)	rs80358344
NM_007294.4(BRCA1):c.5074+2T>C	rs80358089
NM_007294.4(BRCA1):c.5074+3A>G	rs80358181
NM_007294.4(BRCA1):c.5075-1G>A	rs1800747
NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del)	rs80358345
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg)	rs80356993
NM_007294.4(BRCA1):c.5096G>C (p.Arg1699Pro)	rs41293459
NM_007294.4(BRCA1):c.5141T>G (p.Val1714Gly)	rs80357243
NM_007294.4(BRCA1):c.5150del (p.Phe1717fs)	rs80357720
NM_007294.4(BRCA1):c.5153-1G>C	rs80358137
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys)	rs80357239
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)	rs80357104
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)	rs45553935
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg)	rs80356937
NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu)	rs80357450
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly)	rs80357227
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp)	rs397509243
NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro)	rs80357281
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser)	rs80357463
NM_007294.4(BRCA1):c.5302del (p.Cys1768fs)	rs886040289
NM_007294.4(BRCA1):c.5310_5311del (p.Pro1771fs)	rs587781825
NM_007294.4(BRCA1):c.5333-2A>T	rs397509264
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro)	rs398122697
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr)	rs80356929
NM_007294.4(BRCA1):c.5407-10G>A	rs273901767
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter)	rs397509283
NM_007294.4(BRCA1):c.5432A>G (p.Gln1811Arg)	rs80357040
NM_007294.4(BRCA1):c.547+1G>A	rs80358030
NM_007294.4(BRCA1):c.5502_5503dup (p.Arg1835fs)	rs397509291
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)	rs80356959
NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly)	rs80356959
NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser)	rs398122702
NM_007294.4(BRCA1):c.5541C>A (p.Cys1847Ter)	rs397509295
NM_007294.4(BRCA1):c.5556_5560del (p.Tyr1853fs)	rs886040305
NM_007294.4(BRCA1):c.5578dup (p.His1860fs)	rs397507254
NM_007294.4(BRCA1):c.670G>A (p.Ala224Thr)	rs431825419
NM_007294.4(BRCA1):c.685del (p.Ser229fs)	rs80357824
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg)	rs80357410
NM_007294.4(BRCA1):c.715del (p.His239fs)	rs879255294
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs)	rs80357724
NM_007294.4(BRCA1):c.81-9C>G	rs80358127
NM_007294.4(BRCA1):c.869T>A (p.Leu290Ter)	rs730881468
NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg)	rs797045047
NM_007327.4(GRIN1):c.448G>A (p.Val150Met)	rs1187375556
NM_012062.5(DNM1L):c.1048G>A (p.Gly350Arg)	rs879255689
NM_012123.4(MTO1):c.1391G>T (p.Arg464Leu)	rs141970072
NM_012203.2(GRHPR):c.337G>T (p.Glu113Ter)	rs180177307
NM_012203.2(GRHPR):c.404+3_404+6del	rs180177309
NM_012203.2(GRHPR):c.493+2T>A	rs180177313
NM_012203.2(GRHPR):c.866_867del (p.Val289fs)	rs180177321
NM_012203.2(GRHPR):c.867_870dup (p.Leu291fs)	rs1554749639
NM_012203.2(GRHPR):c.934A>G (p.Asn312Asp)	rs180177324
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg)	rs119491110
NM_012434.5(SLC17A5):c.294_310del
NM_012434.5(SLC17A5):c.409del (p.Met137fs)	rs794729653
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter)	rs727504157
NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter)	rs1769021763
NM_012434.5(SLC17A5):c.699del (p.Phe233fs)	rs779548058
NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter)	rs755923873
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)	rs386833994
NM_012434.5(SLC17A5):c.819+1G>A	rs1057517028
NM_012434.5(SLC17A5):c.905del (p.Asn302fs)	rs771156053
NM_012434.5(SLC17A5):c.998del (p.Leu333fs)	rs779494716
NM_012448.4(STAT5B):c.1924A>C (p.Asn642His)	rs938448224
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys)	rs1554616628
NM_013245.3(VPS4A):c.83C>T (p.Ala28Val)	rs1965431981
NM_013254.4(TBK1):c.1153G>T (p.Glu385Ter)	rs765106259
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs)	rs886039734
NM_013275.6(ANKRD11):c.376G>C (p.Glu126Gln)	rs1276607391
NM_013339.4(ALG6):c.1006_1007del (p.Phe336fs)	rs1644562014
NM_013339.4(ALG6):c.1018del (p.Ser340fs)	rs1269984067
NM_013339.4(ALG6):c.1136del (p.Pro379fs)	rs1553156884
NM_013339.4(ALG6):c.114T>G (p.Tyr38Ter)
NM_013339.4(ALG6):c.1167del (p.Ser390fs)	rs769698652
NM_013339.4(ALG6):c.1194dup (p.Ile399fs)	rs1207096732
NM_013339.4(ALG6):c.1246_1250del (p.Leu416fs)
NM_013339.4(ALG6):c.1326+1G>A
NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter)	rs1553157428
NM_013339.4(ALG6):c.146_147del (p.Thr48_Phe49insTer)	rs756566938
NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter)	rs780528545
NM_013339.4(ALG6):c.428del (p.Lys143fs)	rs1471326272
NM_013339.4(ALG6):c.506_507del (p.Val169fs)	rs1274913587
NM_013339.4(ALG6):c.634dup (p.Cys212fs)	rs879133727
NM_013339.4(ALG6):c.684del (p.Phe228fs)	rs2100421533
NM_013339.4(ALG6):c.796_799dup (p.Asp267delinsGlyTer)	rs2100421727
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del)	rs387906338
NM_013339.4(ALG6):c.920T>A (p.Leu307Ter)	rs1644543791
NM_013382.7(POMT2):c.1333-14G>A	rs918556979
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter)	rs1452558347
NM_014023.4(WDR37):c.344C>T (p.Thr115Ile)	rs1833994284
NM_014049.5(ACAD9):c.1429C>T (p.Arg477Ter)	rs866688232
NM_014049.5(ACAD9):c.1798_1801del (p.Lys600fs)	rs917547961
NM_014049.5(ACAD9):c.359del (p.Phe120fs)	rs863224844
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro)	rs115532916
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)	rs1057523157
NM_014159.7(SETD2):c.746C>T (p.Ser249Phe)
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)	rs1555582065
NM_014249.4(NR2E3):c.767C>T (p.Ala256Val)	rs377257254
NM_014251.3(SLC25A13):c.229G>T (p.Glu77Ter)	rs1254503252
NM_014252.4(SLC25A15):c.212T>A (p.Leu71Gln)	rs121908534
NM_014252.4(SLC25A15):c.236C>G (p.Ser79Ter)	rs2138045987
NM_014252.4(SLC25A15):c.326del (p.Asn109fs)
NM_014252.4(SLC25A15):c.408del (p.Met137fs)	rs780201405
NM_014252.4(SLC25A15):c.498del (p.Leu167fs)	rs2138056689
NM_014252.4(SLC25A15):c.514G>T (p.Gly172Ter)	rs1480063127
NM_014252.4(SLC25A15):c.564C>G (p.Phe188Leu)	rs141028076
NM_014297.5(ETHE1):c.43C>T (p.Gln15Ter)	rs2146021370
NM_014297.5(ETHE1):c.596-1G>A
NM_014297.5(ETHE1):c.79C>A (p.Gln27Lys)	rs749803238
NM_014297.5(ETHE1):c.79C>T (p.Gln27Ter)	rs749803238
NM_014324.6(AMACR):c.109C>A (p.Pro37Thr)	rs199734111
NM_014334.4(FRRS1L):c.584_586del (p.Gly195del)	rs878853282
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val)	rs1114167288
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs)	rs786204416
NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs)	rs779338945
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)	rs565203731
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter)	rs141315518
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs)	rs1057516365
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs)	rs786204628
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs)	rs1057517294
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)	rs752059006
NM_014363.6(SACS):c.3328dup (p.Ile1110fs)	rs770866403
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)	rs144267558
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter)	rs867249938
NM_014363.6(SACS):c.470_471del (p.Tyr157fs)	rs1444216187
NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs)	rs1566067485
NM_014363.6(SACS):c.699del (p.Asp235fs)	rs1415870785
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs)	rs1555251539
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)	rs786204750
NM_014363.6(SACS):c.8793del (p.Lys2931fs)	rs767871841
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)	rs767871841
NM_014625.4(NPHS2):c.452del	rs1250670041
NM_014625.4(NPHS2):c.467dup (p.Leu156fs)	rs528833893
NM_014625.4(NPHS2):c.502C>T (p.Arg168Cys)	rs786204583
NM_014625.4(NPHS2):c.586C>T (p.Arg196Ter)	rs12568913
NM_014625.4(NPHS2):c.685C>T (p.Arg229Ter)	rs1057516414
NM_014625.4(NPHS2):c.738+2T>C	rs1212702104
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs)	rs749740335
NM_014625.4(NPHS2):c.862G>A (p.Ala288Thr)	rs1490010141
NM_014625.4(NPHS2):c.928G>A (p.Glu310Lys)	rs1673254835
NM_014625.4(NPHS2):c.965G>A (p.Arg322Gln)	rs776859868
NM_014795.4(ZEB2):c.2707G>T (p.Ala903Ser)	rs730881200
NM_014795.4(ZEB2):c.917G>A (p.Gly306Asp)	rs1703292916
NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln)	rs186003800
NM_014946.4(SPAST):c.1276C>T (p.Leu426Phe)	rs1060502227
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)	rs878854991
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs)	rs797045067
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu)	rs80358242
NM_015166.4(MLC1):c.324del (p.Asn110fs)	rs786204747
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer)	rs267607236
NM_015166.4(MLC1):c.849del (p.Ile283_Met284insTer)
NM_015166.4(MLC1):c.881C>T (p.Pro294Leu)	rs1050220787
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp)	rs1554504681
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)
NM_015294.6(TRIM37):c.1894_1895del (p.Glu632fs)	rs386834002
NM_015294.6(TRIM37):c.2056C>T (p.Arg686Ter)	rs386834003
NM_015294.6(TRIM37):c.370-1G>A
NM_015294.6(TRIM37):c.586C>T (p.Gln196Ter)	rs1568191596
NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter)	rs386834005
NM_015294.6(TRIM37):c.838_842del (p.Thr280fs)	rs386834007
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs)	rs750318549
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs)	rs281865473
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro)	rs756980496
NM_015506.3(MMACHC):c.178dup (p.Asp60fs)	rs1570829757
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro)	rs201777449
NM_015506.3(MMACHC):c.276G>A (p.Glu92=)	rs556977618
NM_015506.3(MMACHC):c.285dup (p.Glu96fs)	rs1553162821
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr)	rs574983400
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)	rs121918240
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)	rs796051998
NM_015506.3(MMACHC):c.435_436del (p.Ser146fs)	rs2149323799
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)	rs140522266
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs)	rs796051999
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp)	rs1553162910
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter)	rs1002571805
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly)	rs370596113
NM_015506.3(MMACHC):c.497dup (p.Pro167fs)	rs1481893137
NM_015506.3(MMACHC):c.506_507del (p.Ile169fs)	rs2149323855
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs)	rs1553162923
NM_015506.3(MMACHC):c.542_545dup (p.Cys182Ter)
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)	rs200895671
NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys)	rs200895671
NM_015506.3(MMACHC):c.565del (p.Arg189fs)	rs1257204721
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro)	rs371753672
NM_015506.3(MMACHC):c.619dup (p.Asp207fs)	rs765913293
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del)	rs796064513
NM_015506.3(MMACHC):c.82-11_82-8del	rs751236442
NM_015506.3(MMACHC):c.82-1G>A	rs1255179780
NM_015506.3(MMACHC):c.89G>A (p.Trp30Ter)	rs1570829502
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter)	rs771673343
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1])	rs1789934246
NM_015610.4(WIPI2):c.724C>T (p.Arg242Trp)	rs1783201574
NM_015702.3(MMADHC):c.128_129del (p.His43fs)	rs1162948308
NM_015702.3(MMADHC):c.663G>A (p.Trp221Ter)	rs2105042238
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly)	rs1408840913
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter)	rs118204048
NM_015713.5(RRM2B):c.662A>G (p.Asn221Ser)	rs863224193
NM_015721.3(GEMIN4):c.2452T>C (p.Trp818Arg)	rs730882219
NM_015836.4(WARS2):c.797del (p.Pro266fs)	rs746478253
NM_015937.6(PIGT):c.848A>T (p.Asp283Val)	rs574857016
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg)	rs1131692228
NM_016222.4(DDX41):c.1030G>T (p.Asp344Tyr)
NM_016222.4(DDX41):c.232_233insAA (p.Pro78fs)	rs1554111683
NM_016302.4(CRBN):c.1171T>C (p.Cys391Arg)	rs797045036
NM_016525.5(UBAP1):c.426_427del (p.Lys143fs)	rs1563920252
NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter)	rs1566306570
NM_017617.5(NOTCH1):c.2153A>G (p.Asn718Ser)	rs1843232044
NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn)	rs193919335
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter)	rs1377452635
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)	rs386834044
NM_017780.4(CHD7):c.2239-16T>A
NM_017780.4(CHD7):c.5607+1G>A	rs1554603672
NM_017780.4(CHD7):c.6936+2T>C
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys)	rs121434341
NM_017841.4(SDHAF2):c.229_230del (p.Arg77fs)	rs1336819076
NM_017849.4(TMEM127):c.117_120del (p.Ile41fs)	rs121908816
NM_017849.4(TMEM127):c.265_268del (p.Thr89fs)	rs121908822
NM_017882.3(CLN6):c.723G>T (p.Met241Ile)	rs149262877
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser)	rs115079861
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)	rs542489955
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)	rs398123009
NM_018026.4(PACS1):c.661-15T>A	rs1565150720
NM_018055.5(NODAL):c.2T>C (p.Met1Thr)
NM_018062.4(FANCL):c.375-2033C>G	rs1690571577
NM_018062.4(FANCL):c.932dup (p.Tyr311Ter)	rs529201454
NM_018082.6(POLR3B):c.986G>A (p.Arg329Gln)
NM_018161.5(NADSYN1):c.1765-7T>A
NM_018196.4(TMLHE):c.961_962del (p.Ile321fs)	rs782624357
NM_018255.4(ELP2):c.293dup (p.Leu98fs)	rs529659464
NM_018297.4(NGLY1):c.1764_1785del (p.Asp588fs)	rs2125442722
NM_019042.5(PUS7):c.398+1G>T	rs1264890888
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln)	rs886039764
NM_020158.4(EXOSC5):c.302C>A (p.Thr101Lys)	rs777418116
NM_020166.5(MCCC1):c.1074del (p.Trp358fs)	rs398124350
NM_020166.5(MCCC1):c.1129_1130del (p.Leu377fs)	rs1714102462
NM_020166.5(MCCC1):c.1378-2A>G
NM_020166.5(MCCC1):c.1518del (p.Glu506fs)
NM_020166.5(MCCC1):c.1630del (p.Arg544fs)
NM_020166.5(MCCC1):c.171_172del (p.Gly58fs)	rs1311374961
NM_020166.5(MCCC1):c.1792del (p.Tyr597_Leu598insTer)	rs2108441513
NM_020166.5(MCCC1):c.1908C>G (p.Tyr636Ter)	rs1311139055
NM_020166.5(MCCC1):c.2088dup (p.Val697fs)	rs746267545
NM_020166.5(MCCC1):c.310C>T (p.Gln104Ter)	rs1177891822
NM_020166.5(MCCC1):c.534_535delinsTT (p.Glu179Ter)	rs2108526606
NM_020166.5(MCCC1):c.622del (p.Arg208fs)
NM_020166.5(MCCC1):c.640_641delGG	rs886058209
NM_020166.5(MCCC1):c.676G>T (p.Glu226Ter)	rs1553862845
NM_020320.5(RARS2):c.-2A>G	rs201150141
NM_020320.5(RARS2):c.1390C>T (p.Gln464Ter)	rs753312969
NM_020320.5(RARS2):c.1612del (p.Thr538fs)	rs781417096
NM_020320.5(RARS2):c.1A>G (p.Met1Val)	rs774923951
NM_020320.5(RARS2):c.42del (p.Arg15fs)	rs777942571
NM_020320.5(RARS2):c.474_477del (p.Glu159fs)	rs774755297
NM_020451.3(SELENON):c.1387+1G>A	rs2047977957
NM_020533.3(MCOLN1):c.680+1G>A	rs1599254152
NM_020549.5(CHAT):c.1231G>T (p.Gly411Ter)
NM_020549.5(CHAT):c.1387C>T (p.Gln463Ter)
NM_020549.5(CHAT):c.1441dup (p.Arg481fs)
NM_020549.5(CHAT):c.1663G>T (p.Glu555Ter)	rs757303526
NM_020549.5(CHAT):c.1850_1851del (p.Gly617fs)
NM_020549.5(CHAT):c.451C>T (p.Arg151Ter)
NM_020549.5(CHAT):c.59_60del (p.Glu20fs)	rs531450737
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp)	rs765513105
NM_020779.4(WDR35):c.3058C>T (p.His1020Tyr)	rs1553316264
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His)	rs200694691
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter)	rs1568133760
NM_020964.3(EPG5):c.721C>T (p.Arg241Ter)	rs372940918
NM_020975.6(RET):c.1998G>C (p.Lys666Asn)	rs146646971
NM_020988.3(GNAO1):c.724-8G>A	rs1085307876
NM_021008.4(DEAF1):c.634G>A (p.Gly212Ser)	rs1057519565
NM_021008.4(DEAF1):c.676C>T (p.Arg226Trp)	rs587777623
NM_021008.4(DEAF1):c.700T>A (p.Trp234Arg)	rs1057524157
NM_021008.4(DEAF1):c.737G>C (p.Arg246Thr)	rs1554944271
NM_021008.4(DEAF1):c.791A>C (p.Gln264Pro)	rs587777407
NM_021008.4(DEAF1):c.910AAG[1] (p.Lys305del)	rs1554943158
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)	rs267607144
NM_021922.3(FANCE):c.100C>T (p.Gln34Ter)
NM_021922.3(FANCE):c.1096del (p.Ser366fs)	rs1272613429
NM_021922.3(FANCE):c.118del (p.Ala40fs)
NM_021922.3(FANCE):c.1239dup (p.Pro414fs)	rs1561792535
NM_021922.3(FANCE):c.248+1G>A	rs1480350743
NM_021922.3(FANCE):c.350_351del (p.Val117fs)
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter)	rs121434506
NM_021922.3(FANCE):c.524dup (p.Arg176fs)	rs773363446
NM_021922.3(FANCE):c.538del (p.Ser180fs)
NM_021922.3(FANCE):c.929dup (p.Val311fs)	rs587778337
NM_022041.4(GAN):c.1268T>C (p.Ile423Thr)	rs119485091
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter)	rs369053765
NM_022081.6(HPS4):c.2054del (p.Pro685fs)	rs2146241760
NM_022081.6(HPS4):c.47del (p.Asn16fs)
NM_022095.4(ZNF335):c.2744_2747del (p.Ser915fs)	rs753460205
NM_022095.4(ZNF335):c.715GTG[3] (p.Val242del)	rs759141702
NM_022132.5(MCCC2):c.1081C>T (p.Arg361Ter)	rs763293192
NM_022132.5(MCCC2):c.1208A>C (p.Asn403Thr)
NM_022132.5(MCCC2):c.1216+2T>A	rs1554138265
NM_022132.5(MCCC2):c.127C>T (p.Gln43Ter)	rs2112251855
NM_022132.5(MCCC2):c.1570G>A (p.Ala524Thr)
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter)	rs768272570
NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter)	rs760881963
NM_022132.5(MCCC2):c.190A>T (p.Lys64Ter)	rs796051989
NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter)	rs147903984
NM_022132.5(MCCC2):c.351_353del (p.Gly118del)	rs758794885
NM_022132.5(MCCC2):c.384-2A>G	rs1745476784
NM_022132.5(MCCC2):c.581del (p.Thr194fs)	rs1190325113
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr)	rs886043524
NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp)	rs766753795
NM_022132.5(MCCC2):c.689del (p.Asn230fs)	rs2112412398
NM_022132.5(MCCC2):c.739-2A>G	rs2112427637
NM_022132.5(MCCC2):c.739del	rs1463802125
NM_022132.5(MCCC2):c.760G>T (p.Glu254Ter)
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg)	rs119103221
NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg)	rs1443551700
NM_022455.5(NSD1):c.3965G>C (p.Arg1322Pro)	rs750684515
NM_022455.5(NSD1):c.788_789del (p.Thr263fs)	rs1756282703
NM_022489.4(INF2):c.658G>A (p.Glu220Lys)	rs530391015
NM_022725.4(FANCF):c.84del (p.Ala29fs)	rs1275961745
NM_023110.3(FGFR1):c.1880G>C (p.Arg627Thr)	rs869025671
NM_023110.3(FGFR1):c.1981C>T (p.Arg661Ter)	rs776264072
NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln)	rs1040187200
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)	rs768443448
NM_024649.5(BBS1):c.1340-1G>T	rs1555049893
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del)	rs863224782
NM_024649.5(BBS1):c.1643dup (p.Glu549fs)	rs773632109
NM_024649.5(BBS1):c.223_224del (p.Leu75fs)	rs1057516451
NM_024649.5(BBS1):c.480-1G>C	rs1057516933
NM_024649.5(BBS1):c.831-3C>G	rs113994179
NM_024649.5(BBS1):c.951+1G>A	rs746875134
NM_024649.5(BBS1):c.951+58C>T	rs1856346961
NM_024665.7(TBL1XR1):c.974G>A (p.Cys325Tyr)	rs1553810255
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter)	rs375699023
NM_024675.4(PALB2):c.109-12T>A	rs774949203
NM_024675.4(PALB2):c.1114dup (p.Ser372fs)	rs1060499815
NM_024675.4(PALB2):c.1117del (p.Glu373fs)
NM_024675.4(PALB2):c.1434_1435del (p.Gln479fs)
NM_024675.4(PALB2):c.1437_1438del (p.Lys480fs)	rs1555461280
NM_024675.4(PALB2):c.1485del (p.Asp496fs)	rs1555461256
NM_024675.4(PALB2):c.1490del (p.Asn497fs)	rs1555461253
NM_024675.4(PALB2):c.1610C>A (p.Ser537Ter)
NM_024675.4(PALB2):c.1641_1669del (p.Ser548fs)
NM_024675.4(PALB2):c.1677del (p.Gln559_Val560insTer)	rs515726073
NM_024675.4(PALB2):c.1685-1G>C	rs1057520645
NM_024675.4(PALB2):c.1709_1710del (p.Glu570fs)	rs1597091425
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter)	rs730881876
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)	rs180177143
NM_024675.4(PALB2):c.1804C>T (p.Gln602Ter)	rs876660475
NM_024675.4(PALB2):c.18G>T (p.Gly6=)	rs587782462
NM_024675.4(PALB2):c.1924del (p.Met642fs)	rs730881865
NM_024675.4(PALB2):c.1969_1981dup (p.Pro661fs)	rs1966862408
NM_024675.4(PALB2):c.2020_2021del (p.Asp674fs)	rs2142383242
NM_024675.4(PALB2):c.2109_2112del (p.Leu703fs)	rs2142380816
NM_024675.4(PALB2):c.212-2A>C	rs730881879
NM_024675.4(PALB2):c.223A>T (p.Lys75Ter)	rs1555461875
NM_024675.4(PALB2):c.224_228del (p.Lys75fs)	rs1064795640
NM_024675.4(PALB2):c.226del (p.Ile76fs)	rs587782443
NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer)	rs876659571
NM_024675.4(PALB2):c.228_229del (p.Ile76fs)	rs1555461870
NM_024675.4(PALB2):c.2298dup (p.Val767fs)	rs1555460407
NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter)	rs1060502748
NM_024675.4(PALB2):c.2389C>T (p.Gln797Ter)	rs1060502768
NM_024675.4(PALB2):c.2405del (p.Cys802fs)	rs1966856604
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs)	rs747148023
NM_024675.4(PALB2):c.2463delinsAA (p.Asn821fs)
NM_024675.4(PALB2):c.2470del (p.Cys824fs)	rs876658348
NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter)	rs750650768
NM_024675.4(PALB2):c.2566C>T (p.Gln856Ter)	rs770996884
NM_024675.4(PALB2):c.2575del (p.Ser859fs)	rs2142367858
NM_024675.4(PALB2):c.2634_2635del (p.Arg879fs)	rs876660643
NM_024675.4(PALB2):c.2712G>A (p.Trp904Ter)	rs587781457
NM_024675.4(PALB2):c.2736G>A (p.Trp912Ter)	rs1555459925
NM_024675.4(PALB2):c.2748+1G>A	rs753153576
NM_024675.4(PALB2):c.2748+1G>T	rs753153576
NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser)	rs515726094
NM_024675.4(PALB2):c.2866G>T (p.Glu956Ter)	rs1219715328
NM_024675.4(PALB2):c.2938del (p.Ser980fs)	rs1555459540
NM_024675.4(PALB2):c.2962_2963del (p.Gln988fs)	rs1555459528
NM_024675.4(PALB2):c.2974_2975dup (p.Met992fs)	rs1555459520
NM_024675.4(PALB2):c.2982dup (p.Ala995fs)	rs180177127
NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter)	rs786203775
NM_024675.4(PALB2):c.3004_3008del (p.Glu1002fs)
NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer)	rs886039683
NM_024675.4(PALB2):c.3062_3063dup (p.Met1022fs)	rs1597079711
NM_024675.4(PALB2):c.3074dup (p.Leu1026fs)
NM_024675.4(PALB2):c.3114-1G>A	rs886039619
NM_024675.4(PALB2):c.3116del (p.Asn1039fs)	rs180177133
NM_024675.4(PALB2):c.311C>T (p.Pro104Leu)	rs1555461835
NM_024675.4(PALB2):c.3124dup (p.Thr1042fs)	rs1555458828
NM_024675.4(PALB2):c.3180T>A (p.Cys1060Ter)	rs2142298948
NM_024675.4(PALB2):c.3201+1G>C	rs587776423
NM_024675.4(PALB2):c.3201G>A (p.Met1067Ile)	rs1555458809
NM_024675.4(PALB2):c.3202-1G>A	rs515726111
NM_024675.4(PALB2):c.3202-1G>C	rs515726111
NM_024675.4(PALB2):c.3297_3298insT (p.Thr1100fs)	rs1567206823
NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter)	rs1218512317
NM_024675.4(PALB2):c.3350+1G>A	rs864622192
NM_024675.4(PALB2):c.3350+4A>G	rs180177136
NM_024675.4(PALB2):c.3362del (p.Gly1121fs)	rs515726117
NM_024675.4(PALB2):c.3469C>T (p.Gln1157Ter)	rs1597062038
NM_024675.4(PALB2):c.3477G>A (p.Trp1159Ter)	rs1597061983
NM_024675.4(PALB2):c.3494C>A (p.Ser1165Ter)	rs773829275
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)	rs587776428
NM_024675.4(PALB2):c.49-2A>G
NM_024675.4(PALB2):c.500_513del (p.Asp167fs)	rs876660719
NM_024675.4(PALB2):c.532G>T (p.Glu178Ter)
NM_024675.4(PALB2):c.538_539delinsTAGTTCCTTT (p.Glu180Ter)	rs1597098943
NM_024675.4(PALB2):c.625del (p.Ser209fs)	rs1597098739
NM_024675.4(PALB2):c.885_886insG (p.Met296fs)	rs1597097936
NM_024675.4(PALB2):c.931A>T (p.Lys311Ter)	rs1060499831
NM_024675.4(PALB2):c.93dup (p.Leu32fs)	rs864622498
NM_024675.4(PALB2):c.953_954del (p.Ser318fs)	rs1060502800
NM_024685.4(BBS10):c.1091del (p.Asn364fs)	rs727503818
NM_024685.4(BBS10):c.1315del (p.Gln439fs)	rs1592491950
NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter)	rs759682922
NM_024685.4(BBS10):c.1510_1511del (p.Ile504fs)	rs886043841
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs)	rs770556842
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)	rs375413604
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter)	rs1565809409
NM_024685.4(BBS10):c.1871C>G (p.Ser624Ter)	rs768385647
NM_024685.4(BBS10):c.1949del (p.Gly650fs)	rs769028262
NM_024685.4(BBS10):c.2030del (p.Gly677fs)	rs1064796315
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)	rs775950661
NM_024685.4(BBS10):c.445dup (p.Leu149fs)	rs770053320
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter)	rs863224522
NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys)	rs756632517
NM_024685.4(BBS10):c.728_731del (p.Lys243fs)	rs786204671
NM_024685.4(BBS10):c.84C>A (p.Cys28Ter)	rs1476664656
NM_024685.4(BBS10):c.909_912del (p.Ser303fs)	rs780059308
NM_024740.2(ALG9):c.125G>C (p.Arg42Pro)	rs781880611
NM_024757.5(EHMT1):c.110G>A (p.Gly37Asp)	rs1300327079
NM_024757.5(EHMT1):c.3853G>C (p.Gly1285Arg)
NM_024996.7(GFM1):c.829dup (p.Ser277fs)	rs771865940
NM_025000.4(DCAF17):c.231-8T>A
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter)	rs775517752
NM_030632.3(ASXL3):c.3349C>T (p.Arg1117Ter)	rs868044680
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter)	rs1555744282
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg)	rs80358230
NM_031844.3(HNRNPU):c.651_660del (p.Gly218fs)	rs779453109
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)	rs193922710
NM_031885.5(BBS2):c.224T>G (p.Val75Gly)	rs121908174
NM_031885.5(BBS2):c.471+1G>A	rs1555523584
NM_031885.5(BBS2):c.627_628del (p.Cys210fs)	rs773417074
NM_031885.5(BBS2):c.661del (p.Leu221fs)	rs770258677
NM_031885.5(BBS2):c.941-1G>T	rs777234811
NM_032040.5(CCDC8):c.803_807delinsT (p.Lys268fs)	rs1973237748
NM_032043.2(BRIP1):c.2398_2400delinsATTTG (p.Tyr800fs)	rs1555580957
NM_032043.3(BRIP1):c.103G>T (p.Gly35Ter)	rs373104267
NM_032043.3(BRIP1):c.1072_1087del (p.Leu358fs)	rs1567831649
NM_032043.3(BRIP1):c.128dup (p.Leu43fs)
NM_032043.3(BRIP1):c.1360G>T (p.Glu454Ter)	rs1555605955
NM_032043.3(BRIP1):c.141del (p.Thr48fs)	rs587782065
NM_032043.3(BRIP1):c.1495C>T (p.Gln499Ter)	rs1060501739
NM_032043.3(BRIP1):c.1543del (p.Glu515fs)	rs1064793812
NM_032043.3(BRIP1):c.1770del (p.Trp592fs)	rs2145091141
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs)	rs587781985
NM_032043.3(BRIP1):c.1970del (p.Gly657fs)	rs760782298
NM_032043.3(BRIP1):c.2103del (p.Glu702fs)	rs2144701568
NM_032043.3(BRIP1):c.210del (p.Lys70fs)	rs1555617925
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs)	rs864622611
NM_032043.3(BRIP1):c.2143_2163delinsTTCT (p.His715fs)
NM_032043.3(BRIP1):c.2400C>A (p.Tyr800Ter)	rs574552037
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)	rs574552037
NM_032043.3(BRIP1):c.243del (p.Val82fs)	rs1064794890
NM_032043.3(BRIP1):c.2479C>T (p.Gln827Ter)	rs786203898
NM_032043.3(BRIP1):c.2581dup (p.Ser861fs)	rs1567732136
NM_032043.3(BRIP1):c.2605C>T (p.Gln869Ter)	rs1060501766
NM_032043.3(BRIP1):c.2789C>A (p.Ser930Ter)
NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter)	rs140233356
NM_032043.3(BRIP1):c.2899del (p.Glu967fs)
NM_032043.3(BRIP1):c.2947dup (p.Ile983fs)	rs774684620
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)	rs771028677
NM_032043.3(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs)	rs763443434
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)	rs779741278
NM_032043.3(BRIP1):c.438_440delinsCT (p.Tyr147fs)	rs786203429
NM_032043.3(BRIP1):c.441_445delinsA (p.Tyr147_Asp149delinsTer)
NM_032043.3(BRIP1):c.462dup (p.Gln155fs)	rs1567868477
NM_032043.3(BRIP1):c.46del (p.Tyr16fs)	rs876660613
NM_032043.3(BRIP1):c.627dup (p.Pro210fs)
NM_032043.3(BRIP1):c.646del (p.Arg216fs)	rs1603347042
NM_032043.3(BRIP1):c.68dup (p.Ser24fs)	rs1555618716
NM_032043.3(BRIP1):c.806C>G (p.Ser269Ter)
NM_032043.3(BRIP1):c.93+4_93+7del	rs1224034842
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg)	rs1060499795
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln)	rs1331463984
NM_032383.5(HPS3):c.1778G>A (p.Trp593Ter)	rs1723609962
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs)	rs1277509410
NM_032536.4(NTNG2):c.858-13G>A	rs1840794100
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter)	rs556752387
NM_032634.4(PIGO):c.2191dup (p.Arg731fs)	rs760848629
NM_033028.5(BBS4):c.1318_1321del (p.Val440fs)	rs1281334523
NM_033028.5(BBS4):c.864+1G>C	rs2151047618
NM_033360.4(KRAS):c.194G>T (p.Ser65Ile)	rs1555194026
NM_033380.3(COL4A5):c.4283G>A (p.Arg1428His)	rs2068539626
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr)	rs759541820
NM_052845.4(MMAB):c.349-1G>C	rs864309510
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter)	rs557884699
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup)	rs1555274496
NM_052845.4(MMAB):c.569G>A (p.Arg190His)	rs756414548
NM_052845.4(MMAB):c.574_577del (p.Ala192fs)
NM_052859.4(RFT1):c.1154A>G (p.Asn385Ser)
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp)	rs1060505041
NM_054012.4(ASS1):c.1166C>T (p.Thr389Ile)	rs1474017319
NM_054012.4(ASS1):c.379C>T (p.Arg127Trp)	rs771794639
NM_054012.4(ASS1):c.412C>T (p.Gln138Ter)	rs1057516339
NM_054012.4(ASS1):c.450_451del (p.Phe150fs)	rs786204648
NM_054012.4(ASS1):c.460_467del (p.Phe154fs)	rs1004492719
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn)	rs121908638
NM_054012.4(ASS1):c.773+1G>A	rs982830431
NM_054012.4(ASS1):c.794G>A (p.Arg265His)	rs398123131
NM_054012.4(ASS1):c.814C>T (p.Arg272Cys)	rs762387914
NM_054012.4(ASS1):c.846C>A (p.Tyr282Ter)	rs549085827
NM_054012.4(ASS1):c.931C>T (p.Gln311Ter)	rs1301613270
NM_054012.4(ASS1):c.951del (p.Phe317fs)	rs775791516
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro)	rs886041401
NM_058216.3(RAD51C):c.1026+5_1026+7del	rs587781410
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter)	rs387907159
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr)	rs767796996
NM_058216.3(RAD51C):c.472dup (p.Ile158fs)	rs2143746162
NM_058216.3(RAD51C):c.572-1G>C	rs1413872299
NM_058216.3(RAD51C):c.93del (p.Phe32fs)	rs730881942
NM_078480.3(PUF60):c.1381-2A>G	rs1057518681
NM_130839.5(UBE3A):c.1802CTT[1] (p.Ser602del)	rs587781234
NM_130839.5(UBE3A):c.2124+19T>G	rs587782925
NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu)	rs587781239
NM_130839.5(UBE3A):c.377C>A (p.Thr126Lys)	rs587781241
NM_130839.5(UBE3A):c.62+20G>A	rs587782906
NM_130839.5(UBE3A):c.63-19_63-17del	rs587782921
NM_133171.5(ELMO2):c.1802-1G>C	rs886037918
NM_133259.4(LRPPRC):c.4077C>G (p.Tyr1359Ter)	rs148828179
NM_133433.4(NIPBL):c.5709+1G>A	rs587783979
NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys)	rs888230251
NM_138615.3(DHX30):c.2353C>T (p.Arg785Cys)	rs1085307451
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs)	rs1057517071
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs)	rs752889346
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter)	rs769559267
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)	rs760426769
NM_138694.4(PKHD1):c.11776del (p.Val3926fs)	rs1057517324
NM_138694.4(PKHD1):c.1233+1G>A	rs886061623
NM_138694.4(PKHD1):c.1338del (p.Leu447fs)	rs1582013246
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu)	rs750730042
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala)	rs750730042
NM_138694.4(PKHD1):c.1602+1G>A	rs398124476
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter)	rs749293235
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu)	rs777183511
NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter)	rs398124480
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)	rs370277502
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)	rs746972457
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)	rs1057517273
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg)	rs1464962854
NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser)
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly)	rs1210846081
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs)	rs771180444
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs)	rs1057516804
NM_138694.4(PKHD1):c.6809-2A>G	rs1340926191
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter)	rs398124498
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter)	rs1582053820
NM_138694.4(PKHD1):c.930del (p.Thr311fs)	rs398124501
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs)	rs797045101
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)	rs146649803
NM_138694.4(PKHD1):c.9830-2A>G	rs890681861
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter)	rs757099749
NM_138927.4(SON):c.3852_3856del (p.Met1284fs)	rs1114167303
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)	rs886039773
NM_139242.4(MTFMT):c.374C>T (p.Ser125Leu)	rs397514614
NM_144997.7(FLCN):c.127G>T (p.Glu43Ter)	rs1555611494
NM_144997.7(FLCN):c.250-2A>G	rs398124533
NM_145054.5(CFAP52):c.1304del (p.Gly435fs)	rs1360832162
NM_145239.3(PRRT2):c.649del (p.Arg217fs)	rs587778771
NM_152383.5(DIS3L2):c.1087A>G (p.Ile363Val)	rs540563766
NM_152383.5(DIS3L2):c.2302del (p.Leu768fs)
NM_152383.5(DIS3L2):c.325dup (p.Asp109fs)	rs1441475659
NM_152383.5(DIS3L2):c.645del (p.Cys216fs)	rs1328362747
NM_152383.5(DIS3L2):c.733C>T (p.Arg245Ter)	rs199648534
NM_152393.4(KLHL40):c.703G>T (p.Glu235Ter)	rs768335581
NM_152443.3(RDH12):c.146C>A (p.Thr49Lys)	rs28940314
NM_152443.3(RDH12):c.164C>T (p.Thr55Met)	rs766631462
NM_152443.3(RDH12):c.185G>T (p.Arg62Leu)	rs778481181
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp)	rs368489658
NM_152443.3(RDH12):c.377C>A (p.Ala126Glu)	rs202126574
NM_152443.3(RDH12):c.488del (p.Lys163fs)	rs2038193754
NM_152443.3(RDH12):c.505C>G (p.Arg169Gly)	rs761167763
NM_152443.3(RDH12):c.580dup (p.Tyr194fs)	rs2140145502
NM_152443.3(RDH12):c.617C>T (p.Ala206Val)
NM_152443.3(RDH12):c.63_66del (p.Ile22fs)	rs794729650
NM_152443.3(RDH12):c.659-2A>T	rs2038231425
NM_152443.3(RDH12):c.698_699delinsAA (p.Val233Glu)	rs2038232911
NM_152443.3(RDH12):c.715C>T (p.Arg239Trp)	rs751589863
NM_152443.3(RDH12):c.779dup (p.Ala262fs)
NM_152443.3(RDH12):c.812_813del (p.Ala271fs)	rs2140151036
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter)	rs200387832
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg)	rs878853339
NM_152618.3(BBS12):c.1082del (p.Gly361fs)	rs1057517193
NM_152618.3(BBS12):c.1372dup (p.Thr458fs)	rs1195341481
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)	rs752762669
NM_152618.3(BBS12):c.1616G>A (p.Gly539Asp)	rs755314355
NM_152618.3(BBS12):c.1663_1667del (p.Glu555fs)	rs2150737598
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs)	rs1560708847
NM_152618.3(BBS12):c.265_266del (p.Leu89fs)	rs1397714772
NM_153006.3(NAGS):c.1097-2A>G	rs2049106256
NM_153006.3(NAGS):c.1268+2T>C	rs202041339
NM_153006.3(NAGS):c.1289T>C (p.Leu430Pro)	rs104894605
NM_153006.3(NAGS):c.1552G>A (p.Ala518Thr)
NM_153006.3(NAGS):c.310del (p.Arg104fs)
NM_153006.3(NAGS):c.569G>A (p.Trp190Ter)	rs2049079486
NM_153006.3(NAGS):c.570G>A (p.Trp190Ter)	rs755257734
NM_153006.3(NAGS):c.654dup (p.Gly219fs)
NM_153006.3(NAGS):c.872T>A (p.Ile291Asn)
NM_153218.4(LACC1):c.850T>C (p.Cys284Arg)	rs730880295
NM_153676.4(USH1C):c.388-1G>A	rs1364331716
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)	rs764397417
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)	rs121912496
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys)	rs796052623
NM_172250.3(MMAA):c.1098G>A (p.Trp366Ter)
NM_172250.3(MMAA):c.1114del (p.Gln372fs)	rs765726949
NM_172250.3(MMAA):c.298_312del (p.Cys100_Ala104del)	rs780082584
NM_172250.3(MMAA):c.411_414del (p.Asn137fs)	rs1553957931
NM_172250.3(MMAA):c.439+4_439+7del	rs1553957939
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)	rs140356252
NM_172250.3(MMAA):c.733+1G>T
NM_172250.3(MMAA):c.963_969+4del
NM_173354.5(SIK1):c.468G>A (p.Leu156=)	rs2081056659
NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu)	rs118091316
NM_173660.5(DOK7):c.1378dup (p.Gln460fs)	rs606231133
NM_174878.3(CLRN1):c.502dup (p.Ile168fs)	rs746523071
NM_174936.4(PCSK9):c.386A>G (p.Asp129Gly)	rs1553135971
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)
NM_176787.5(PIGN):c.1694G>T (p.Arg565Leu)	rs201835155
NM_176787.5(PIGN):c.1759C>T (p.Arg587Ter)	rs376226764
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp)	rs558341655
NM_176795.5(HRAS):c.488_497del (p.Leu163fs)	rs764755556
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer)	rs773139166
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del)	rs587777836
NM_176824.3(BBS7):c.1891-2A>C	rs1057519027
NM_176824.3(BBS7):c.389_390del (p.Asn130fs)	rs863224530
NM_177550.5(SLC13A5):c.1475T>C (p.Leu492Pro)	rs1057519449
NM_177550.5(SLC13A5):c.785T>C (p.Leu262Pro)	rs1973699059
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)	rs869312840
NM_178014.4(TUBB):c.860C>T (p.Pro287Leu)	rs1554202416
NM_178172.6(GPIHBP1):c.323C>G (p.Thr108Arg)	rs752728823
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp)	rs864321624
NM_181523.3(PIK3R1):c.1425+1G>A	rs587777709
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser)	rs398124560
NM_183050.4(BCKDHB):c.1007dup (p.Phe337fs)
NM_183050.4(BCKDHB):c.1037A>G (p.Gln346Arg)	rs2127965290
NM_183050.4(BCKDHB):c.1095_1096del (p.Pro366fs)
NM_183050.4(BCKDHB):c.169C>T (p.Gln57Ter)	rs1554181192
NM_183050.4(BCKDHB):c.329_330delinsAA (p.Leu110Ter)	rs2127727924
NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter)	rs398124573
NM_183050.4(BCKDHB):c.352dup (p.Arg118fs)
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg)	rs751953459
NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter)	rs1772735425
NM_183050.4(BCKDHB):c.503G>A (p.Arg168His)	rs749033513
NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys)	rs398124581
NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp)	rs149766077
NM_183050.4(BCKDHB):c.57_64dup (p.His22fs)	rs1410520713
NM_183050.4(BCKDHB):c.583dup (p.Tyr195fs)	rs1772747408
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer)	rs398124587
NM_183050.4(BCKDHB):c.612del (p.Phe204fs)	rs1210649507
NM_183050.4(BCKDHB):c.818C>T (p.Thr273Ile)
NM_183050.4(BCKDHB):c.843dup (p.His282fs)
NM_183050.4(BCKDHB):c.885del (p.Gly296fs)	rs398124599
NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs)	rs398124601
NM_183050.4(BCKDHB):c.94del (p.Ala32fs)	rs2127698980
NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys)	rs1224101411
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu)	rs1554205541
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val)	rs397514513
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp)	rs864309483
NM_194454.3(KRIT1):c.146_147del (p.Arg49fs)	rs1057518665
NM_198239.2(CCN6):c.233G>A (p.Cys78Tyr)	rs1562595388
NM_198239.2(CCN6):c.246del (p.Glu84fs)	rs797044438
NM_198271.5(LMOD3):c.788T>C (p.Ile263Thr)	rs9835034
NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter)	rs746797123
NM_198428.3(BBS9):c.1812del (p.Glu604fs)	rs1229015450
NM_198880.3(QRICH1):c.851C>T (p.Pro284Leu)	rs2093408453
NM_198904.4(GABRG2):c.269C>T (p.Thr90Met)	rs1057520498
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)	rs796052505
NM_199292.2(TH):c.-70G>A	rs1372180906
NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg)	rs866822473
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)	rs150412614
NM_201253.3(CRB1):c.2234C>A (p.Thr745Lys)	rs28939720
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val)	rs369184026
NM_201253.3(CRB1):c.3299T>C (p.Ile1100Thr)	rs62635659
NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser)	rs2125506459
NM_201253.3(CRB1):c.3988del (p.Glu1330fs)	rs1057520152
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu)	rs1667264651
NM_201548.5(CERKL):c.1073+3_1073+6del	rs1553513437
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser)	rs569826109
NM_201548.5(CERKL):c.316C>T (p.Arg106Cys)	rs569826109
NM_205861.3(DHDDS):c.264_267del (p.Ser88fs)
NM_205861.3(DHDDS):c.513G>A (p.Trp171Ter)
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)	rs772808534
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs)	rs397517964
NM_206933.4(USH2A):c.10197C>A (p.Cys3399Ter)	rs1183957540
NM_206933.4(USH2A):c.10388-2A>G	rs1553261479
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)	rs111033379
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter)	rs111033418
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs)	rs1366496013
NM_206933.4(USH2A):c.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.12300C>A (p.Tyr4100Ter)	rs1657997730
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met)	rs527236137
NM_206933.4(USH2A):c.13257_13263del (p.Phe4419fs)	rs1057517533
NM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter)	rs111033417
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)	rs1553252388
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)	rs139474806
NM_206933.4(USH2A):c.13595_13596del (p.Pro4532fs)	rs1485393201
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter)	rs367674026
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)	rs397517990
NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter)	rs1553250072
NM_206933.4(USH2A):c.14787del (p.Glu4930fs)	rs34713174
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)	rs1656419435
NM_206933.4(USH2A):c.1571C>T (p.Ala524Val)	rs772624410
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)	rs483353054
NM_206933.4(USH2A):c.2293C>T (p.Gln765Ter)	rs777629750
NM_206933.4(USH2A):c.2779C>T (p.Gln927Ter)	rs1438734382
NM_206933.4(USH2A):c.3296_3297del (p.Thr1099fs)	rs748369458
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs)	rs397518013
NM_206933.4(USH2A):c.3558del (p.Cys1186fs)	rs397518014
NM_206933.4(USH2A):c.3589del (p.Ser1197fs)	rs1553313810
NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del)	rs1294733964
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter)	rs2034938852
NM_206933.4(USH2A):c.409dup (p.Ser137fs)	rs1571805164
NM_206933.4(USH2A):c.4251+1G>T	rs878853405
NM_206933.4(USH2A):c.486-1G>C	rs876657730
NM_206933.4(USH2A):c.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.6083A>G (p.Tyr2028Cys)
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)	rs769838859
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer)	rs111033268
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter)	rs794727579
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)	rs1057518826
NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp)	rs727503723
NM_206933.4(USH2A):c.7493del (p.Ser2498fs)	rs1553274448
NM_206933.4(USH2A):c.7568G>A (p.Trp2523Ter)	rs1553274424
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)	rs1571783742
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs)	rs886041502
NM_206933.4(USH2A):c.8240del (p.Pro2747fs)	rs1553272201
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter)	rs1553250952
NM_206933.4(USH2A):c.8917_8918del (p.Leu2973fs)	rs1553268582
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs)	rs536593247
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)	rs397518048
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)	rs1388040238
NM_206933.4(USH2A):c.98C>A (p.Ser33Ter)	rs2039690812
NM_206965.2(FTCD):c.990dup (p.Pro331fs)	rs398124234
NM_207037.2(TCF12):c.1838G>A (p.Arg613His)
PALB2:c.2515-1G>T	rs587776417
Single allele

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