Variants from Institute of Human Genetics, University of Leipzig Medical Center with conflicting interpretations

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

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

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
4469	1572	20	1232	183	15	476	1689

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
Institute of Human Genetics, University of Leipzig Medical Center		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	affects	association	drug response	other
	pathogenic	20	631	109	10	3	1	1	7	1
	likely pathogenic	544	0	190	9	2	0	0	1	0
	uncertain significance	96	98	0	106	62	0	1	1	0
	likely benign	6	4	41	0	42	0	0	0	0
	benign	5	1	9	19	0	0	0	1	2

Submitter to submitter summary #

Submitter	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
Labcorp Genetics (formerly Invitae), Labcorp	0	779	6	226	76	3	99	410
OMIM	0	533	11	178	4	1	45	239
Counsyl	0	161	0	85	9	0	34	128
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	340	1	89	3	0	14	107
Baylor Genetics	0	450	1	72	7	0	22	102
Mendelics	0	202	0	52	29	0	16	97
Myriad Genetics, Inc.	0	228	0	65	22	0	5	92
Genome-Nilou Lab	0	194	0	49	19	0	21	89
3billion	0	330	0	63	3	0	19	85
Illumina Laboratory Services, Illumina	0	192	0	41	29	0	14	84
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	287	0	58	1	0	15	74
Natera, Inc.	0	193	0	42	12	0	14	68
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	123	0	44	0	0	23	67
Fulgent Genetics, Fulgent Genetics	0	235	0	52	4	0	9	65
Revvity Omics, Revvity	0	196	0	45	5	0	15	65
Ambry Genetics	0	149	1	23	12	0	26	62
MGZ Medical Genetics Center	0	200	0	34	2	0	13	49
LDLR-LOVD, British Heart Foundation	0	24	0	30	3	0	10	43
Department of Pathology and Laboratory Medicine, Sinai Health System	0	107	1	21	3	0	14	39
Institute of Human Genetics Munich, TUM University Hospital	0	134	0	31	0	0	5	36
Johns Hopkins Genomics, Johns Hopkins University	0	86	0	18	12	0	6	36
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix	0	8	0	22	3	0	8	33
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	84	1	19	1	0	9	30
Neuberg Centre For Genomic Medicine, NCGM	0	127	1	22	0	0	7	30
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	67	0	19	5	0	3	27
Color Diagnostics, LLC DBA Color Health	0	78	0	11	6	0	9	26
Genomics England Pilot Project, Genomics England	0	31	0	23	0	0	3	26
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	71	0	23	0	0	3	26
Robarts Research Institute, Western University	0	3	0	20	2	0	4	26
Variantyx, Inc.	0	140	0	21	0	0	5	26
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	49	0	17	0	0	8	25
SIB Swiss Institute of Bioinformatics	0	20	0	18	1	0	6	25
Solve-RD Consortium	0	4	0	25	0	0	0	25
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	81	1	19	0	0	3	23
Department of Human Genetics, Hannover Medical School	0	76	0	19	0	0	3	22
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	0	28	0	9	3	0	10	22
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	98	0	20	0	0	2	22
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation	0	9	0	17	1	0	4	22
All of Us Research Program, National Institutes of Health	0	100	0	6	8	0	7	21
CFTR2	0	93	0	20	0	0	1	21
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	80	0	17	0	0	4	21
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	80	0	13	0	0	7	20
Juno Genomics, Hangzhou Juno Genomics, Inc	0	119	0	15	0	0	4	19
Genetic Services Laboratory, University of Chicago	0	91	0	13	1	0	4	18
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	0	65	0	16	0	0	2	18
Clinical Genetics Laboratory, Skane University Hospital Lund	0	23	0	12	0	0	4	16
Dasa	0	61	0	13	2	0	1	16
GeneDx	0	39	0	9	2	0	5	16
Institute of Immunology and Genetics Kaiserslautern	0	57	0	13	0	0	3	16
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	35	0	6	6	0	4	16
CENTOGENE GmbH and LLC - Guiding Precision Medicine	0	52	0	11	0	0	4	15
CFTR-France	0	67	0	12	3	0	0	15
CeGaT Center for Human Genetics Tuebingen	0	24	0	6	4	0	5	15
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	71	0	7	5	0	2	14
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	43	0	9	1	0	4	14
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	40	0	8	4	0	2	14
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	0	24	0	8	1	0	5	14
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	42	1	7	2	0	4	14
Fundacion Hipercolesterolemia Familiar	0	13	0	8	2	0	3	13
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	28	0	11	0	0	2	13
NIHR Bioresource Rare Diseases, University of Cambridge	0	1	0	12	0	0	1	13
Tumer Group, Copenhagen University Hospital, Rigshospitalet	0	35	0	12	0	0	1	13
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	49	0	10	0	0	2	12
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	67	0	10	1	0	1	12
Molecular Pathology, Peter Maccallum Cancer Centre	0	54	0	5	3	0	4	12
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	0	92	0	6	4	0	1	11
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	20	0	5	1	0	5	11
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	38	0	6	3	0	2	11
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	36	0	8	0	0	3	11
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	0	11	0	9	0	0	2	11
Sharing Clinical Reports Project (SCRP)	0	82	0	4	5	0	2	11
Athena Diagnostics	0	19	0	6	1	0	3	10
Center for Human Genetics, Inc, Center for Human Genetics, Inc	0	26	1	5	2	0	2	10
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel	0	27	0	5	0	0	5	10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	51	0	3	4	0	3	10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	70	0	4	5	0	1	10
New York Genome Center	0	50	0	6	1	0	3	10
UCLA Clinical Genomics Center, UCLA	0	6	0	10	0	0	0	10
Blueprint Genetics	0	12	0	6	0	0	3	9
Breast Cancer Information Core (BIC) (BRCA2)	0	41	0	1	0	0	8	9
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia	0	13	0	7	0	0	2	9
Centre for Population Genomics, CPG	0	40	0	7	0	0	2	9
ClinPGx	0	0	0	0	0	9	0	9
Genome Diagnostics Laboratory, The Hospital for Sick Children	0	45	0	4	1	0	4	9
Institute of Medical Molecular Genetics, University of Zurich	0	2	0	9	0	0	0	9
Laboratoire de Génétique Moléculaire, CHU Bordeaux	0	13	0	8	0	0	1	9
Suma Genomics	0	20	0	5	0	0	4	9
CSER _CC_NCGL, University of Washington	0	7	0	3	0	0	5	8
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service	0	17	0	6	0	0	2	8
Clinical Genomics Laboratory, Stanford Medicine	0	26	0	7	0	0	1	8
Clinical Genomics Laboratory, Washington University in St. Louis	0	33	0	5	1	0	2	8
Eurofins Ntd Llc (ga)	0	5	0	4	0	1	3	8
Genesis Genomics	0	21	0	8	0	0	0	8
Genetics and Molecular Pathology, SA Pathology	0	81	0	6	0	0	2	8
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	13	0	6	0	0	2	8
Molecular Genetics, Royal Melbourne Hospital	0	24	0	4	1	0	3	8
RettBASE	0	28	0	5	0	0	3	8
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	16	0	7	0	0	1	8
Undiagnosed Diseases Network, NIH	0	40	1	6	0	0	1	8
BRCAlab, Lund University	0	66	0	4	3	0	0	7
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	28	0	6	0	0	1	7
Breast Cancer Information Core (BIC) (BRCA1)	0	50	0	0	3	0	4	7
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre	0	0	0	5	2	0	0	7
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	0	9	0	4	2	0	1	7
Division of Human Genetics, Children's Hospital of Philadelphia	0	21	0	6	0	0	1	7
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub	0	20	0	5	0	0	2	7
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	22	1	5	0	0	1	7
Institute of Human Genetics, Heidelberg University	0	41	0	6	0	0	1	7
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	37	0	6	0	0	1	7
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II	0	4	0	6	0	0	1	7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	1	0	4	2	0	1	7
PreventionGenetics, part of Exact Sciences	0	24	0	4	1	0	2	7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	54	0	7	0	0	0	7
Center of Genomic medicine, Geneva, University Hospital of Geneva	0	21	1	4	0	0	1	6
Centre of Medical Genetics, University Hospital Muenster	0	16	0	3	0	0	3	6
First Genomix Gene Laboratory, Genetic Diagnostics Department	0	58	0	5	0	0	1	6
Iberoamerican FH Network	0	10	0	4	0	0	2	6
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA	0	25	0	6	0	0	0	6
Laboratory of Genetics, Children's Clinical University Hospital Latvia	0	4	0	6	0	0	0	6
Mayo Clinic Laboratories, Mayo Clinic	0	15	0	3	1	0	2	6
Medical and Scientific Branch, Hong Kong Genome Institute	0	18	0	6	0	0	0	6
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust	0	9	0	4	0	0	2	6
OLLIN Analises Genomicas, OLLIN	0	34	0	4	0	0	2	6
Pathway Genomics	0	17	0	2	3	0	1	6
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	19	0	6	0	0	0	6
Sema4, Sema4	0	8	1	1	0	0	4	6
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	27	0	3	0	0	2	5
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital	0	19	0	3	1	0	1	5
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	0	15	0	3	0	0	2	5
Department of Molecular Diagnostics, Institute of Oncology Ljubljana	0	32	0	5	0	0	0	5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	0	19	0	3	0	0	2	5
Institute for Integrative and Experimental Genomics, University of Luebeck	0	0	0	3	0	0	2	5
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	6	0	5	0	0	0	5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	0	6	0	5	0	0	0	5
Molecular Genetics Lab, CHRU Brest	0	5	0	4	0	0	1	5
NeuroMeGen, Hospital Clinico Santiago de Compostela	0	0	0	5	0	0	0	5
Sharon lab, Hadassah-Hebrew University Medical Center	0	5	0	4	0	0	1	5
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	28	0	5	0	0	0	5
Cavalleri Lab, Royal College of Surgeons in Ireland	0	5	0	4	0	0	0	4
Center for Medical Genetics Ghent, University of Ghent	0	5	0	4	0	0	0	4
Center of Human Genetics, Hôpital Erasme	0	15	0	3	0	0	1	4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	0	15	0	4	0	0	0	4
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen	0	15	0	2	1	0	1	4
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	78	0	3	0	0	1	4
Department of Genetics, Sultan Qaboos University Hospital	0	14	0	3	0	0	1	4
Dubai Health Genomic Medicine Center, Dubai Health	0	32	0	1	1	0	2	4
Eurofins-Biomnis	0	4	0	2	0	0	2	4
Hadassah Hebrew University Medical Center	0	18	0	3	0	0	1	4
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino"	0	4	0	3	0	0	1	4
Inherited Neuropathy Consortium Ii, University Of Miami	0	1	0	0	0	0	4	4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	0	31	0	4	0	0	0	4
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	13	0	2	0	0	2	4
Intergen Genetics and Rare Diseases Diagnosis Center	0	8	0	4	0	0	0	4
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	0	0	3	0	0	1	4
Lifecell International Pvt. Ltd	0	20	0	4	0	0	0	4
MVZ Martinsried, Medicover Genetics	0	8	0	2	0	0	2	4
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	0	1	0	2	0	0	2	4
Ocular Genomics Institute, Massachusetts Eye and Ear	0	12	0	4	0	0	0	4
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic	0	3	0	3	0	0	1	4
Reproductive Health Research and Development, BGI Genomics	0	14	1	1	0	0	2	4
Service de Génétique Moléculaire, Hôpital Robert Debré	0	9	0	2	0	0	2	4
SingHealth Duke-NUS Institute of Precision Medicine	0	4	0	3	0	0	1	4
deCODE genetics, Amgen	0	6	0	4	0	0	0	4
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	0	4	0	2	1	0	0	3
Cardiovascular Biomarker Research Laboratory, Mayo Clinic	0	1	0	0	2	0	1	3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	9	0	1	1	0	1	3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	3	0	2	0	0	1	3
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	0	0	0	0	0	0	3	3
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	0	13	0	3	0	0	0	3
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	0	94	0	3	0	0	0	3
Department of Molecular Genetics, Istishari Arab Hospital	0	6	0	3	0	0	0	3
Elsea Laboratory, Baylor College of Medicine	0	2	0	1	0	0	2	3
GeneKor MSA	0	8	0	2	0	0	1	3
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam	0	7	0	0	0	0	3	3
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli	0	10	0	3	0	0	0	3
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	0	10	0	3	0	0	0	3
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	11	0	2	1	0	0	3
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université	0	3	0	3	0	0	0	3
Human Developmental Genetics, Institut Pasteur	0	0	0	2	0	0	1	3
Human Genetics Bochum, Ruhr University Bochum	0	18	0	3	0	0	0	3
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	0	2	0	3	0	0	0	3
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald	0	3	0	3	0	0	0	3
Institute of Human Genetics, Cologne University	0	7	0	3	0	0	0	3
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	0	8	0	3	0	0	0	3
KardioGenetik, Herz- und Diabeteszentrum NRW	0	1	0	2	0	0	1	3
Kariminejad - Najmabadi Pathology & Genetics Center	0	10	0	2	0	0	1	3
MVZ Medizinische Genetik Mainz	0	3	0	1	0	0	2	3
Michigan Medical Genetics Laboratories, University of Michigan	0	23	0	1	2	0	0	3
Molecular Biology Laboratory, Fundació Puigvert	0	2	0	2	0	0	1	3
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana	0	3	0	3	0	0	0	3
PXE International	0	5	0	3	0	0	0	3
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur	0	0	0	2	0	0	1	3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	1	0	1	1	0	1	3
University of Washington Center for Mendelian Genomics, University of Washington	0	0	0	3	0	0	0	3
AiLife Diagnostics, AiLife Diagnostics	0	5	0	1	0	0	1	2
Arcensus	0	4	0	2	0	0	0	2
Biochemistry Laboratory of CDMU, Chengde Medical University	0	0	0	1	0	0	1	2
Center for Molecular Medicine, Children’s Hospital of Fudan University	0	5	0	2	0	0	0	2
Center of Medical Genetics and Primary Health Care	0	3	0	0	0	0	2	2
ClinGen Potassium Channel Arrhythmia Variant Curation Expert Panel, ClinGen	0	1	0	1	0	0	1	2
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel	0	11	0	0	0	0	2	2
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska"	0	6	0	1	0	0	1	2
Clinical Genetics and Genomics, Karolinska University Hospital	0	4	0	2	0	0	0	2
Clinical Genetics, Academic Medical Center	0	5	0	1	0	0	1	2
Cytogenetique et Genetique Moleculaire, CHU Besancon	0	0	0	2	0	0	0	2
Daryl Scott Lab, Baylor College of Medicine	0	24	0	2	0	0	0	2
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen	0	8	0	2	0	0	0	2
Department of Medical Genetics, Oslo University Hospital	0	35	0	2	0	0	0	2
Department of Medical and Surgical Sciences, University of Bologna	0	2	0	1	1	0	0	2
Department of Pediatric Genetics, Istanbul University - Cerrahpasa	0	1	0	2	0	0	0	2
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital	0	5	0	2	0	0	0	2
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University	0	8	0	2	0	0	0	2
Division of Medical Genetics, University of Washington	0	7	0	2	0	0	0	2
Dobyns Lab, Seattle Children's Research Institute	0	1	0	1	0	0	1	2
Duke University Health System Sequencing Clinic, Duke University Health System	0	12	0	2	0	0	0	2
Dunham Lab, University of Washington	0	1	0	1	0	0	1	2
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto	0	1	0	1	1	0	0	2
Gene Discovery Core-Manton Center, Boston Children's Hospital	0	0	0	2	0	0	0	2
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital	0	3	0	2	0	0	0	2
Genetics Department, Catlab	0	3	0	2	0	0	0	2
GenomeConnect - Simons Searchlight	0	8	0	1	0	0	1	2
Genomic Medicine Lab, University of California San Francisco	0	15	0	2	0	0	0	2
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	0	13	0	1	0	0	1	2
Laan Lab, Human Genetics Research Group, University of Tartu	0	3	0	2	0	0	0	2
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University	0	1	0	1	0	0	1	2
Laboratory Cellgenetics, GMDL Cellgenetics	0	2	0	1	0	0	1	2
Laboratory of Human Genetics, Universidade de São Paulo	0	1	0	1	0	0	1	2
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine	0	1	0	1	0	0	1	2
Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine	0	1	0	1	0	0	1	2
Laboratory of Prof. Karen Avraham, Tel Aviv University	0	1	0	1	0	0	1	2
Medical Molecular Genetics, National Research Centre	0	1	0	1	0	0	1	2
Molecular Endocrinology Laboratory, Christian Medical College	0	5	0	1	1	0	0	2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	0	26	0	2	0	0	0	2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,	0	0	0	0	0	0	2	2
Payam Genetics Center, General Welfare Department of North Khorasan Province	0	0	0	2	0	0	0	2
Pediatrics, MediClubGeorgia	0	1	0	1	0	0	1	2
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino	0	0	0	2	0	0	0	2
Quest Diagnostics Nichols Institute San Juan Capistrano	0	3	0	2	0	0	0	2
Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences	0	3	0	2	0	0	0	2
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana	0	2	0	2	0	0	0	2
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud	0	0	0	2	0	0	0	2
University of Washington Department of Laboratory Medicine, University of Washington	0	11	0	1	1	0	0	2
Wendy Chung Laboratory, Boston Children's Hospital	0	0	0	1	0	0	1	2
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	0	11	0	1	1	0	0	2
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute	0	9	0	1	0	0	0	1
Al Jawhara Center for Molecular Medicine, Arabian Gulf University	0	0	0	0	0	0	1	1
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico	0	0	0	0	0	0	1	1
Autoinflammatory diseases unit, CHU de Montpellier	0	6	0	1	0	0	0	1
Aziz Sancar Institute of Experimental Medicine, Istanbul University	0	0	0	0	0	1	0	1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	0	5	0	1	0	0	0	1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital	0	2	0	1	0	0	0	1
Bioinformatics Unit, Institut Pasteur de Montevideo	0	0	0	1	0	0	0	1
Breakthrough Genomics, Breakthrough Genomics	0	15	0	0	0	0	1	1
Cancer Diagnostics Division, Gene Solutions	0	0	0	1	0	0	0	1
Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere	0	1	0	1	0	0	0	1
CeMIA	0	0	0	0	1	0	0	1
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences	0	1	0	0	0	0	1	1
Center for Bioinformatics, Peking University	0	12	0	1	0	0	0	1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	0	0	0	0	1	0	0	1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen	0	3	0	1	0	0	0	1
Center for Human Genetics, University of Leuven	0	0	0	1	0	0	0	1
Center for Precision Medicine, Meizhou People's Hospital	0	7	0	1	0	0	0	1
Center for Statistical Genetics, Columbia University	0	1	0	0	0	0	1	1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	0	4	0	1	0	0	0	1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital	0	8	0	1	0	0	0	1
Centre for Medical Genetics, Mumbai	0	0	0	0	0	0	1	1
Centre of Medical Genetics, University of Antwerp	0	2	0	1	0	0	0	1
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen	0	5	0	1	0	0	0	1
ClinGen PAH Variant Curation Expert Panel	0	7	0	1	0	0	0	1
ClinGen TP53 Variant Curation Expert Panel, ClinGen	0	6	0	0	1	0	0	1
Clinical Biochemistry Laboratory, Health Services Laboratory	0	0	0	0	0	0	1	1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada	0	4	0	1	0	0	0	1
Clinical Cancer Genetics and Family Consultants, Athens Medical Center	0	0	0	0	0	0	1	1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill	0	2	0	1	0	0	0	1
Collagen Diagnostic Laboratory, University of Washington	0	0	0	1	0	0	0	1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia	0	3	0	1	0	0	0	1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences	0	15	0	0	0	0	1	1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics	0	2	0	0	0	0	1	1
Department of Clinical Genetics, Medical University of Lodz	0	5	0	0	0	0	1	1
Department of Clinical Pathology, School of Medicine, Fujita Health University	0	0	0	0	1	0	0	1
Department of Immunology, University Hospital Southampton NHSFT	0	1	0	1	0	0	0	1
Department of Medical Genetics, Hunan Children's Hospital	0	0	0	0	0	0	1	1
Department of Medical Genetics, JSS Medical College, Mysore	0	0	0	1	0	0	0	1
Department of Medical Genetics, University Hospital of North Norway	0	2	0	0	1	0	0	1
Department of Medical Genomics, Royal Prince Alfred Hospital	0	0	0	0	0	0	1	1
Department of Nephrology, Rheumatology and Immunology, Shanghai Children's Hospital	0	0	0	0	0	0	1	1
Department of Neurology, Children’s Hospital of Chongqing Medical University	0	0	0	1	0	0	0	1
Department of Ophthalmology, Shanghai Jiao Tong University School of Medicine, Shanghai General Hospital	0	0	0	0	0	0	1	1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK)	0	2	0	1	0	0	0	1
Department of Pathophysiology and Transplantation, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico	0	0	0	1	0	0	0	1
Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf	0	0	0	0	0	0	1	1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center	0	8	0	1	0	0	0	1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea	0	2	0	1	0	0	0	1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital	0	0	0	1	0	0	0	1
Dept of Pediatrics, Guizhou Children's Hospital, Affiliated Hospital of Zunyi Medical University	0	0	0	1	0	0	0	1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University	0	2	0	1	0	0	0	1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg	0	6	0	0	0	0	1	1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	0	0	0	1	0	0	0	1
Donald Williams Parsons Laboratory, Baylor College of Medicine	0	2	0	1	0	0	0	1
Dr Mariam's Lab, University of the Punjab	0	0	0	0	0	0	1	1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ	0	1	0	0	1	0	0	1
Dr.Nikuei Genetic Center	0	1	0	1	0	0	0	1
Fondazione Telethon, Telethon Institute of Genetics and Medicine	0	0	0	1	0	0	0	1
Fundacion Rioja Salud, Center for Biomedical Research (CIBIR)	0	0	0	0	0	0	1	1
GENinCode PLC	0	7	0	0	0	0	1	1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	0	3	0	0	0	0	1	1
GeneReviews	0	229	0	1	0	0	0	1
Genetic Diseases Diagnostic Center, Koc University Hospital	0	0	0	1	0	0	0	1
Genetic Foundation of Khorasan Razavi (GFKR)	0	3	0	1	0	0	0	1
Genologica Medica	0	17	0	1	0	0	0	1
Genomenon, Inc, Genomenon, Inc	0	2	0	0	0	0	1	1
Genomics And Bioinformatics Analysis Resource, Columbia University	0	7	0	1	0	0	0	1
Genomics Facility, Ludwig-Maximilians-Universität München	0	1	0	1	0	0	0	1
Gharavi Laboratory, Columbia University	0	5	0	1	0	0	0	1
Human Genetics Section, Sidra Medicine	0	0	0	1	0	0	0	1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles	0	1	0	0	0	0	1	1
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	0	3	0	0	0	0	1	1
Institute for Genomic Medicine, Nationwide Children's Hospital	0	2	0	0	0	0	1	1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	0	10	0	1	0	0	0	1
Institute of Human Genetics, Medical University Innsbruck	0	14	0	1	0	0	0	1
Institute of Human Genetics, University Hospital of Duesseldorf	0	20	0	1	0	0	0	1
Institute of Human Genetics, University of Goettingen	0	2	0	1	0	0	0	1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	0	7	0	1	0	0	0	1
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	0	0	0	1	0	0	0	1
King Laboratory, University of Washington	0	4	0	0	0	0	1	1
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics	0	3	0	0	0	0	1	1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	0	0	0	1	0	0	0	1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital	0	0	0	0	0	0	1	1
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine	0	0	0	1	0	0	0	1
Lildballe Lab, Aarhus University Hospital	0	6	0	0	0	0	1	1
MVZ Praenatalmedizin und Genetik Nuernberg	0	0	0	0	1	0	0	1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province	0	3	0	1	0	0	0	1
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences	0	1	0	0	0	0	1	1
Medical Genetics, University of Parma	0	14	0	1	0	0	0	1
Molecular Diagnostics Laboratory, Catalan Institute of Oncology	0	3	0	0	0	0	1	1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology	0	1	0	0	0	0	1	1
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes	0	2	0	1	0	0	0	1
Molecular Genetics Laboratory, Biobizkaia Health Research Institute	0	1	0	1	0	0	0	1
Molecular Genetics Laboratory, Institute for Ophthalmic Research	0	1	0	1	0	0	0	1
Molecular Genetics Laboratory, Motol Hospital	0	1	0	0	0	0	1	1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	0	3	0	1	0	0	0	1
Molecular Vision Laboratory	0	0	0	0	0	1	0	1
MyeliNeuroGene Lab, McGill University Health Center Research Institute	0	0	0	0	0	0	1	1
NHS Central & South Genomic Laboratory Hub	0	21	0	1	0	0	0	1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health	0	3	0	1	0	0	0	1
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University	0	0	0	1	0	0	0	1
Neurogenetics Laboratory, Gh Pitie Salpetriere Aphp	0	0	0	1	0	0	0	1
Otogenetics	0	9	0	1	0	0	0	1
PDHA1 Study Group, University Children’s Hospital, Paracelsus Medical University	0	3	0	1	0	0	0	1
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research	0	6	0	1	0	0	0	1
Paris Brain Institute, Inserm - ICM	0	11	0	1	0	0	0	1
Pediatric Department, Xiangya Hospital, Central South University	0	8	0	0	0	0	1	1
Pediatric Genetics Clinic, Sheba Medical Center	0	12	0	1	0	0	0	1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital	0	0	0	0	0	0	1	1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe	0	0	0	1	0	0	0	1
Phosphorus, Inc.	0	2	0	0	0	0	1	1
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar	0	1	0	0	1	0	0	1
Prof. Thelma's Laboratory, Department of Genetics, University of Delhi South Campus	0	0	0	1	0	0	0	1
Provincial Medical Genetics Program of British Columbia, University of British Columbia	0	6	0	1	0	0	0	1
Rare Disease Group, Clinical Genetics, Karolinska Institutet	0	0	0	0	0	0	1	1
Roden Lab, Vanderbilt University Medical Center	0	0	0	1	0	0	0	1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University	0	1	0	1	0	0	0	1
Synevo Romania	0	0	0	1	0	0	0	1
TIDEX, University of British Columbia	0	1	0	0	1	0	0	1
Tgen's Center for Rare Childhood Disorders, Translational Genomics Research Institute (tgen)	0	0	0	1	0	0	0	1
The Genetics Institute, Rambam Health Care Campus	0	0	0	1	0	0	0	1
The Purple Gene Clinic, Mumbai	0	1	0	1	0	0	0	1
UAB Medical Genomics Laboratory, UAB Medicine	0	1	0	1	0	0	0	1
UW Hindbrain Malformation Research Program, University of Washington	0	8	0	1	0	0	0	1
UniProtKB/Swiss-Prot	0	7	0	1	0	0	0	1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	0	5	0	1	0	0	0	1
University of Iowa Renal Genetics Clinic, University of Iowa	0	1	0	0	0	0	1	1
Wangler Lab, Baylor College of Medicine	0	3	0	1	0	0	0	1
Watson Genetic Lab	0	0	0	1	0	0	0	1
Wonkam Laboratory, Johns Hopkins University	0	0	0	1	0	0	0	1
Yale Center for Mendelian Genomics, Yale University	0	1	0	0	0	0	1	1
Zarate Arkansas Children's Genetics Clinic, Arkansas Children's Hospital	0	0	0	0	0	0	1	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_004998.4(MYO1E):c.332+8G>A	rs4508371	0.98102
NM_000546.6(TP53):c.215C>G (p.Pro72Arg)	rs1042522	0.62654
NM_001072.4(UGT1A6):c.862-10021T>G	rs4124874	0.55614
NM_000540.3(RYR1):c.7835+5A>G	rs1469695	0.38217
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg)	rs1805124	0.24768
NM_000335.5(SCN5A):c.1141-3C>A	rs41312433	0.16844
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg)	rs152451	0.12980
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_000041.2(APOE):c.526C>T (p.Arg176Cys)	rs7412	0.07986
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)	rs1799950	0.04695
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)	rs1801466	0.04034
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	rs1800562	0.03738
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val)	rs6339	0.03698
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_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)	rs1801581	0.02951
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)	rs17580	0.02788
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=)	rs1801248	0.02598
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)	rs3743930	0.02112
NM_014625.4(NPHS2):c.725C>T (p.Ala242Val)	rs61747727	0.02064
NM_004646.4(NPHS1):c.59-5C>G	rs114595892	0.01814
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)	rs1800095	0.01670
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)	rs121908120	0.01412
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)	rs1799967	0.01348
NM_000237.3(LPL):c.953A>G (p.Asn318Ser)	rs268	0.01327
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)	rs28929474	0.01282
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly)	rs1799807	0.01259
NM_000410.4(HFE):c.193A>T (p.Ser65Cys)	rs1800730	0.00992
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622	0.00944
NM_000492.4(CFTR):c.1210-11T>G	rs73715573	0.00886
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)	rs17107315	0.00797
NM_001040108.2(MLH3):c.1870G>C (p.Glu624Gln)	rs28756986	0.00750
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val)	rs61754118	0.00745
NM_004035.7(ACOX1):c.80C>T (p.Pro27Leu)	rs145082938	0.00672
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile)	rs138127778	0.00658
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)	rs45439799	0.00640
NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter)	rs202233735	0.00627
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)	rs1800100	0.00625
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)	rs11571833	0.00597
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)	rs1800118	0.00570
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)	rs55960271	0.00561
NM_005105.5(RBM8A):c.67+32G>C	rs201779890	0.00518
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)	rs72553883	0.00518
NM_001371904.1(APOA5):c.553G>T (p.Gly185Cys)	rs2075291	0.00514
NM_058216.3(RAD51C):c.572-17G>T	rs193023469	0.00513
NM_016233.2(PADI3):c.335T>A (p.Leu112His)	rs142129409	0.00490
NM_000250.2(MPO):c.2031-2A>C	rs35897051	0.00472
NM_017636.4(TRPM4):c.755G>A (p.Arg252His)	rs146564314	0.00453
NM_001371986.1(UNC80):c.92+7G>A	rs200211384	0.00448
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)	rs147346345	0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	rs76157638	0.00445
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)	rs143759519	0.00440
NM_183357.3(ADCY5):c.1902G>C (p.Glu634Asp)	rs61734561	0.00436
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)	rs28897689	0.00419
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met)	rs36215895	0.00411
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	rs17879961	0.00408
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)	rs151268759	0.00400
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu)	rs74315344	0.00398
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224	0.00393
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	rs34557412	0.00391
NM_000152.5(GAA):c.-32-13T>G	rs386834236	0.00380
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)	rs41276738	0.00378
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp)	rs121909293	0.00374
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	rs61755320	0.00364
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)	rs4988345	0.00363
NM_001394062.1(MACF1):c.3450G>A (p.Lys1150=)	rs147586507	0.00361
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)	rs112029032	0.00346
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	rs36053993	0.00341
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00337
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)	rs121909046	0.00335
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)	rs28935490	0.00315
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu)	rs56344740	0.00307
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)	rs34589476	0.00299
NM_000492.4(CFTR):c.4242+13A>G	rs76179227	0.00295
NM_017449.5(EPHB2):c.2032G>A (p.Asp678Asn)	rs28936395	0.00287
NM_004525.3(LRP2):c.10937G>A (p.Arg3646His)	rs142549310	0.00281
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)	rs116100695	0.00279
NM_000939.4(POMC):c.706C>G (p.Arg236Gly)	rs28932472	0.00279
NM_000059.4(BRCA2):c.68-7T>A	rs81002830	0.00277
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)	rs72552293	0.00277
NM_000548.5(TSC2):c.4006-8C>T	rs45517325	0.00275
NM_001079.4(ZAP70):c.1082+8C>T	rs55933862	0.00271
NM_032043.3(BRIP1):c.2097+7G>A	rs4988352	0.00271
NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met)	rs35960726	0.00270
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)	rs1799954	0.00268
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys)	rs6161	0.00262
NM_201631.4(TGM5):c.337G>T (p.Gly113Cys)	rs112292549	0.00252
NM_001394062.1(MACF1):c.1799G>A (p.Arg600Gln)	rs139794027	0.00250
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)	rs200302125	0.00245
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)	rs148584617	0.00241
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)	rs1800386	0.00237
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)	rs104893836	0.00236
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)	rs117725825	0.00233
NM_000096.4(CP):c.1430C>T (p.Pro477Leu)	rs35331711	0.00232
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)	rs147313927	0.00229
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr)	rs45517319	0.00219
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys)	rs181347577	0.00218
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)	rs41419545	0.00217
NM_000492.4(CFTR):c.2620-15C>G	rs139379077	0.00212
NM_020458.4(TTC7A):c.1817A>G (p.Lys606Arg)	rs139010200	0.00210
NM_020458.4(TTC7A):c.2014T>C (p.Ser672Pro)	rs149602485	0.00210
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)	rs1800111	0.00208
NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys)	rs147232392	0.00206
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)	rs80359890	0.00205
NM_000051.4(ATM):c.162T>C (p.Tyr54=)	rs3218690	0.00200
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)	rs121909352	0.00198
NM_000540.3(RYR1):c.12283-7C>T	rs143861818	0.00195
NM_002941.4(ROBO1):c.2204G>A (p.Ser735Asn)	rs34515208	0.00193
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	rs76763715	0.00191
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)	rs121918007	0.00190
NM_000027.4(AGA):c.436T>G (p.Leu146Val)	rs146381591	0.00188
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00188
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	rs75391579	0.00184
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	rs397515360	0.00183
NM_020634.3(GDF3):c.796C>T (p.Arg266Cys)	rs140926412	0.00178
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)	rs77724903	0.00178
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp)	rs147458358	0.00177
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg)	rs121908919	0.00176
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)	rs28897710	0.00172
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	rs34612342	0.00168
NM_004970.3(IGFALS):c.1436G>A (p.Gly479Asp)	rs182305760	0.00168
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	rs61751374	0.00164
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)	rs145588689	0.00162
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	rs113994096	0.00160
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)	rs121918799	0.00159
NM_007055.4(POLR3A):c.1909+22G>A	rs191875469	0.00156
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	rs113994094	0.00151
NM_001943.5(DSG2):c.166G>A (p.Val56Met)	rs121913013	0.00150
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)	rs1800552	0.00147
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)	rs147231991	0.00146
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	rs75184679	0.00141
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)	rs1800073	0.00134
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)	rs104893941	0.00133
NM_000051.4(ATM):c.1066-6T>G	rs201686625	0.00128
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)	rs11212587	0.00127
NR_003051.4(RMRP):n.72A>G	rs199476103	0.00123
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)	rs45478192	0.00121
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)	rs75789129	0.00119
NM_007294.4(BRCA1):c.591C>T (p.Cys197=)	rs1799965	0.00117
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=)	rs41267517	0.00116
NM_004415.4(DSP):c.88G>A (p.Val30Met)	rs121912998	0.00116
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=)	rs145296488	0.00114
NM_007254.4(PNKP):c.1029+2T>C	rs199919568	0.00111
NM_003977.4(AIP):c.911G>A (p.Arg304Gln)	rs104894190	0.00109
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)	rs104893915	0.00107
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)	rs147213895	0.00107
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)	rs121434254	0.00105
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)	rs138617999	0.00104
NM_024675.4(PALB2):c.1194G>A (p.Val398=)	rs61755173	0.00103
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)	rs137852987	0.00102
NM_203290.4(POLR1C):c.193A>G (p.Met65Val)	rs141471029	0.00100
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val)	rs145451123	0.00098
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)	rs146170087	0.00094
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)	rs1800548	0.00089
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)	rs121909551	0.00084
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)	rs35516286	0.00083
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile)	rs61750563	0.00082
NM_001270520.2(DAAM1):c.400A>G (p.Ile134Val)	rs145787738	0.00081
NM_006946.4(SPTBN2):c.157+5G>A	rs150159444	0.00081
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)	rs141976414	0.00080
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met)	rs71428908	0.00078
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	rs113994097	0.00076
NM_000235.4(LIPA):c.894G>A (p.Gln298=)	rs116928232	0.00075
NM_000251.3(MSH2):c.942+3A>T	rs193922376	0.00072
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)	rs58639322	0.00071
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)	rs145890213	0.00070
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)	rs121909034	0.00068
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)	rs11555217	0.00068
NM_005797.4(MPZL2):c.72del (p.Ile24fs)	rs752672077	0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)	rs80338933	0.00067
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	rs80338945	0.00066
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)	rs199504211	0.00066
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu)	rs142994610	0.00065
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)	rs201587138	0.00063
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser)	rs138776684	0.00061
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp)	rs36210422	0.00061
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)	rs549794342	0.00061
NM_198578.4(LRRK2):c.5606T>C (p.Met1869Thr)	rs35602796	0.00060
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)	rs143486492	0.00059
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser)	rs186924074	0.00058
NM_148897.3(SDR9C7):c.551A>G (p.Asp184Gly)	rs138435128	0.00058
NM_002474.3(MYH11):c.429G>A (p.Lys143=)	rs200672270	0.00056
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly)	rs143166100	0.00054
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)	rs147509697	0.00053
NM_017646.6(TRIT1):c.979C>T (p.Arg327Ter)	rs144042123	0.00052
NM_000372.5(TYR):c.1037-7T>A	rs61754381	0.00051
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)	rs45496496	0.00050
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)	rs12713559	0.00050
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys)	rs201680145	0.00049
NM_002907.4(RECQL):c.401C>T (p.Thr134Ile)	rs150306543	0.00049
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr)	rs751749989	0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	rs141138948	0.00048
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)	rs137853964	0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	rs80338685	0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	rs199605265	0.00046
NM_000492.4(CFTR):c.509G>A (p.Arg170His)	rs1800079	0.00045
NM_000275.3(OCA2):c.1336A>G (p.Met446Val)	rs140566426	0.00042
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)	rs121964857	0.00042
NM_001370658.1(BTD):c.68A>G (p.His23Arg)	rs146011150	0.00042
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)	rs121907998	0.00041
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)	rs200179145	0.00041
NM_000313.4(PROS1):c.284G>A (p.Gly95Glu)	rs144526169	0.00040
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)	rs201386642	0.00040
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter)	rs554847663	0.00040
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser)	rs12877501	0.00040
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)	rs104894845	0.00039
NM_000199.5(SGSH):c.734G>A (p.Arg245His)	rs104894635	0.00039
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)	rs137852700	0.00038
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)	rs140455771	0.00038
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)	rs1800112	0.00038
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)	rs199738299	0.00038
NM_001395891.1(CLASP1):c.196-567G>A	rs559979281	0.00038
NM_001395891.1(CLASP1):c.196-605C>T	rs188343279	0.00038
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)	rs41298442	0.00037
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	rs77375493	0.00037
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)	rs145252402	0.00036
NM_000055.4(BCHE):c.428G>A (p.Gly143Asp)	rs201820739	0.00035
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met)	rs779248881	0.00035
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)	rs147422190	0.00034
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn)	rs72553877	0.00034
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala)	rs104886164	0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)	rs75541969	0.00033
NM_000350.3(ABCA4):c.5714+5G>A	rs61751407	0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)	rs142763740	0.00032
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)	rs78769542	0.00030
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)	rs141204958	0.00029
NM_000249.4(MLH1):c.1897-17C>G	rs2308316	0.00029
NM_000350.3(ABCA4):c.5461-10T>C	rs1800728	0.00029
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)	rs143139258	0.00029
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)	rs74315457	0.00029
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn)	rs201759207	0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)	rs119103267	0.00029
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn)	rs773242093	0.00029
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)	rs5742904	0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	rs5030868	0.00028
NM_000137.4(FAH):c.1062+5G>A	rs80338901	0.00027
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)	rs137853011	0.00026
NM_000540.3(RYR1):c.1598G>A (p.Arg533His)	rs144336148	0.00025
NM_000542.5(SFTPB):c.361C>G (p.Pro121Ala)	rs141905538	0.00025
NM_002206.3(ITGA7):c.3268C>T (p.Gln1090Ter)	rs200390529	0.00025
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)	rs142441643	0.00025
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp)	rs138119149	0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)	rs142191737	0.00025
NR_023343.3(RNU4ATAC):n.8C>T	rs370715569	0.00025
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)	rs121912707	0.00023
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)	rs139901585	0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met)	rs79658334	0.00022
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)	rs80358257	0.00021
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)	rs139791325	0.00021
NM_002016.2(FLG):c.94G>T (p.Glu32Ter)	rs114733570	0.00021
NM_002578.5(PAK3):c.1579A>G (p.Ser527Gly)	rs200474454	0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met)	rs143570936	0.00019
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)	rs56399857	0.00019
NM_000083.3(CLCN1):c.180+3A>T	rs202217420	0.00019
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)	rs61750168	0.00019
NM_001177316.2(SLC34A3):c.1304del (p.Ser435fs)	rs771816857	0.00019
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)	rs121918358	0.00019
NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys)	rs201393279	0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln)	rs202160208	0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)	rs201709513	0.00019
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)	rs61751408	0.00018
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His)	rs121909552	0.00018
NM_000492.4(CFTR):c.3963+69A>G	rs540577876	0.00018
NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val)	rs532329866	0.00018
NM_002878.4(RAD51D):c.904-3C>T	rs45478491	0.00018
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)	rs121908480	0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)	rs121918661	0.00018
NM_000156.6(GAMT):c.327G>A (p.Lys109=)	rs80338735	0.00017
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)	rs121434369	0.00017
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)	rs61751392	0.00017
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)	rs137853096	0.00017
NM_000431.4(MVK):c.803T>C (p.Ile268Thr)	rs104895304	0.00017
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr)	rs142773283	0.00017
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter)	rs56381858	0.00017
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val)	rs201712827	0.00017
NM_003937.3(KYNU):c.256dup (p.Tyr86fs)	rs550079487	0.00017
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys)	rs137854617	0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)	rs80034486	0.00016
NM_000492.4(CFTR):c.489+3A>G	rs377729736	0.00016
NM_001429.4(EP300):c.5711A>C (p.Gln1904Pro)	rs140187237	0.00016
NM_012452.3(TNFRSF13B):c.311G>A (p.Cys104Tyr)	rs72553879	0.00016
NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys)	rs146802593	0.00016
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met)	rs147112322	0.00015
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)	rs5030849	0.00015
NM_000489.6(ATRX):c.1648A>G (p.Ser550Gly)	rs201284965	0.00015
NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln)	rs149241435	0.00015
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs)	rs782339984	0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)	rs141568342	0.00015
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg)	rs199573774	0.00015
NM_000161.3(GCH1):c.610G>A (p.Val204Ile)	rs200891969	0.00013
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)	rs45478699	0.00013
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter)	rs119473033	0.00013
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)	rs386834153	0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	rs61752717	0.00012
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr)	rs121907984	0.00012
NM_005912.2(MC4R):c.110A>T (p.Asp37Val)	rs13447325	0.00012
NM_014625.4(NPHS2):c.868G>A (p.Val290Met)	rs200482683	0.00012
NM_017872.5(THG1L):c.164T>C (p.Val55Ala)	rs201920319	0.00012
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val)	rs149331537	0.00012
NM_194436.3(LDHD):c.1319C>T (p.Thr440Met)	rs764877688	0.00012
NM_000038.6(APC):c.3875C>T (p.Thr1292Met)	rs371113837	0.00011
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)	rs3092907	0.00011
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg)	rs397516050	0.00011
NM_000487.6(ARSA):c.869G>A (p.Arg290His)	rs199476355	0.00011
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val)	rs397508556	0.00011
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	rs118192172	0.00011
NM_000722.4(CACNA2D1):c.1648G>T (p.Asp550Tyr)	rs542692632	0.00011
NM_001080467.3(MYO5B):c.2228G>A (p.Arg743His)	rs368212890	0.00011
NM_001739.2(CA5A):c.555G>A (p.Lys185=)	rs147623570	0.00011
NM_003052.5(SLC34A1):c.1223T>A (p.Val408Glu)	rs140649226	0.00011
NM_018006.5(TRMU):c.835G>A (p.Val279Met)	rs387907022	0.00011
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln)	rs368404711	0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)	rs5030851	0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)	rs104893688	0.00010
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln)	rs139669564	0.00010
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=)	rs45520945	0.00009
NM_000153.4(GALC):c.1586C>T (p.Thr529Met)	rs200960659	0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)	rs121909011	0.00009
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)	rs201573863	0.00009
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)	rs149633775	0.00009
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)	rs200440467	0.00009
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys)	rs139805921	0.00009
NM_001395891.1(CLASP1):c.196-591C>T	rs756026847	0.00009
NM_003193.5(TBCE):c.100+1G>A	rs200356271	0.00009
NM_006651.4(CPLX1):c.382C>A (p.Leu128Met)	rs371709824	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_015087.5(SPART):c.364_365del (p.Met122fs)	rs775736341	0.00009
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)	rs200283306	0.00009
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln)	rs121908121	0.00009
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala)	rs587780256	0.00009
NM_000157.4(GBA1):c.115+1G>A	rs104886460	0.00008
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)	rs5030856	0.00008
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile)	rs1800123	0.00008
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu)	rs13447331	0.00008
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe)	rs587780189	0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)	rs369925690	0.00008
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met)	rs62642575	0.00007
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)	rs151048781	0.00007
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala)	rs138315511	0.00007
NM_000744.7(CHRNA4):c.1106G>A (p.Arg369Gln)	rs200007766	0.00007
NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val)	rs746910149	0.00007
NM_003482.4(KMT2D):c.859A>G (p.Lys287Glu)	rs375915416	0.00007
NM_004172.5(SLC1A3):c.1496G>A (p.Arg499Gln)	rs138085358	0.00007
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)	rs189150283	0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His)	rs121908706	0.00007
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val)	rs28897696	0.00007
NM_015937.6(PIGT):c.1582G>A (p.Val528Met)	rs771157170	0.00007
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer)	rs762890562	0.00007
NM_000158.4(GBE1):c.785G>A (p.Arg262His)	rs369574719	0.00006
NM_000163.5(GHR):c.726G>C (p.Glu242Asp)	rs45588036	0.00006
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu)	rs199594809	0.00006
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)	rs397515912	0.00006
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe)	rs200416912	0.00006
NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp)	rs201502095	0.00006
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)	rs1800089	0.00006
NM_000501.4(ELN):c.659C>T (p.Pro220Leu)	rs201012726	0.00006
NM_001171.6(ABCC6):c.3413G>A (p.Arg1138Gln)	rs60791294	0.00006
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys)	rs137853010	0.00006
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn)	rs28897691	0.00006
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val)	rs140873167	0.00006
NM_019892.6(INPP5E):c.1861C>T (p.Arg621Trp)	rs142759730	0.00006
NM_024757.5(EHMT1):c.149C>T (p.Ala50Val)	rs143155406	0.00006
NM_024757.5(EHMT1):c.3375G>C (p.Arg1125Ser)	rs764006601	0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	rs137852832	0.00006
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	rs104886142	0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)	rs539192853	0.00006
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)	rs587782652	0.00005
NM_000053.4(ATP7B):c.1285+5G>T	rs370579582	0.00005
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln)	rs121907996	0.00005
NM_000071.3(CBS):c.341C>T (p.Ala114Val)	rs121964964	0.00005
NM_000143.4(FH):c.1127A>C (p.Gln376Pro)	rs200796606	0.00005
NM_000258.3(MYL3):c.466G>A (p.Val156Met)	rs199474707	0.00005
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro)	rs749747871	0.00005
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly)	rs140014925	0.00005
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)	rs62642574	0.00005
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln)	rs587781934	0.00005
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)	rs121918593	0.00005
NM_000829.4(GRIA4):c.2090G>A (p.Arg697Gln)	rs765556214	0.00005
NM_001177316.2(SLC34A3):c.304+2T>C	rs201293634	0.00005
NM_001370259.2(MEN1):c.803A>G (p.Tyr268Cys)	rs773500082	0.00005
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)	rs587781813	0.00005
NM_003052.5(SLC34A1):c.244G>T (p.Glu82Ter)	rs377186926	0.00005
NM_003482.4(KMT2D):c.8011G>A (p.Gly2671Ser)	rs762567167	0.00005
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys)	rs121917839	0.00005
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)	rs137853007	0.00005
NM_014270.5(SLC7A9):c.604+2T>C	rs763110287	0.00005
NM_014285.7(EXOSC2):c.89G>T (p.Gly30Val)	rs537467155	0.00005
NM_016216.4(DBR1):c.233C>T (p.Thr78Met)	rs775757073	0.00005
NM_016219.5(MAN1B1):c.1000C>T (p.Arg334Cys)	rs387906886	0.00005
NM_024675.4(PALB2):c.3035C>T (p.Thr1012Ile)	rs761032954	0.00005
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp)	rs28940875	0.00004
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)	rs755554442	0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)	rs587779884	0.00004
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu)	rs568132506	0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)	rs200411226	0.00004
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met)	rs121909378	0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)	rs397516074	0.00004
NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn)	rs397516211	0.00004
NM_000312.4(PROC):c.127G>A (p.Ala43Thr)	rs767626189	0.00004
NM_000432.4(MYL2):c.403-1G>C	rs199474813	0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)	rs397508442	0.00004
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr)	rs201958172	0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)	rs139624145	0.00004
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)	rs28941776	0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)	rs376459828	0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)	rs139043155	0.00004
NM_000535.7(PMS2):c.1A>G (p.Met1Val)	rs587779333	0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)	rs118192177	0.00004
NM_000785.4(CYP27B1):c.1166G>A (p.Arg389His)	rs118204009	0.00004
NM_001035.3(RYR2):c.1249C>G (p.Arg417Gly)	rs564822776	0.00004
NM_004360.5(CDH1):c.2494G>A (p.Val832Met)	rs35572355	0.00004
NM_005276.4(GPD1):c.398C>T (p.Ser133Leu)	rs184522376	0.00004
NM_006017.3(PROM1):c.1301+2T>C	rs775957498	0.00004
NM_006846.4(SPINK5):c.891C>T (p.Cys297=)	rs752941297	0.00004
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)	rs121908705	0.00004
NM_012193.4(FZD4):c.313A>G (p.Met105Val)	rs80358284	0.00004
NM_017791.3(FLVCR2):c.1019C>T (p.Pro340Leu)	rs750773606	0.00004
NM_024678.6(NARS2):c.167A>G (p.Gln56Arg)	rs201751992	0.00004
NM_024989.4(PGAP1):c.2042del (p.Leu681fs)	rs756609752	0.00004
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe)	rs200320892	0.00004
NM_172351.3(CD46):c.286+2T>G	rs769742294	0.00004
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del)	rs771903291	0.00004
NM_206933.4(USH2A):c.486-14G>A	rs374536346	0.00004
NM_206933.4(USH2A):c.908G>A (p.Arg303His)	rs371777049	0.00004
NR_033294.2(SNORD118):n.72A>G	rs201558321	0.00004
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)	rs751995154	0.00003
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)	rs80338714	0.00003
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr)	rs201497300	0.00003
NM_000057.4(BLM):c.98+1G>C	rs750293380	0.00003
NM_000059.4(BRCA2):c.3032C>G (p.Thr1011Arg)	rs80358548	0.00003
NM_000059.4(BRCA2):c.9458G>C (p.Gly3153Ala)	rs80359220	0.00003
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter)	rs760768475	0.00003
NM_000152.5(GAA):c.307T>G (p.Cys103Gly)	rs398123174	0.00003
NM_000153.4(GALC):c.857G>A (p.Gly286Asp)	rs199847983	0.00003
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu)	rs1057516344	0.00003
NM_000179.3(MSH6):c.2780T>C (p.Ile927Thr)	rs587779926	0.00003
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His)	rs371564200	0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	rs3218716	0.00003
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp)	rs377515417	0.00003
NM_000317.3(PTS):c.370G>T (p.Val124Leu)	rs150726932	0.00003
NM_000493.4(COL10A1):c.772C>T (p.Arg258Ter)	rs765628474	0.00003
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)	rs137929307	0.00003
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)	rs373822756	0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)	rs121908029	0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)	rs111888148	0.00003
NM_001004334.4(GPR179):c.659A>G (p.Tyr220Cys)	rs281875236	0.00003
NM_001009944.3(PKD1):c.4709C>T (p.Thr1570Met)	rs368161263	0.00003
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)	rs104894718	0.00003
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)	rs747993448	0.00003
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp)	rs201255508	0.00003
NM_001360.3(DHCR7):c.1085G>A (p.Arg362His)	rs142213147	0.00003
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His)	rs199422220	0.00003
NM_002354.3(EPCAM):c.556-14A>G	rs376155665	0.00003
NM_002860.4(ALDH18A1):c.2177G>A (p.Arg726His)	rs773714478	0.00003
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)	rs370228071	0.00003
NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp)	rs376054085	0.00003
NM_005984.5(SLC25A1):c.844C>T (p.Arg282Cys)	rs431905509	0.00003
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)	rs28897672	0.00003
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn)	rs80357175	0.00003
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val)	rs80356740	0.00003
NM_015450.3(POT1):c.1071dup (p.Gln358fs)	rs750470470	0.00003
NM_015937.6(PIGT):c.1520G>A (p.Arg507Gln)	rs769195904	0.00003
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)	rs142500730	0.00003
NM_022370.4(ROBO3):c.955G>A (p.Glu319Lys)	rs121918274	0.00003
NM_024589.3(ROGDI):c.531+5G>C	rs749657986	0.00003
NM_024675.4(PALB2):c.3235G>T (p.Ala1079Ser)	rs730881878	0.00003
NM_138425.4(C12orf57):c.1A>G (p.Met1Val)	rs587776954	0.00003
NM_153704.6(TMEM67):c.651+2T>G	rs199821258	0.00003
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)	rs750396156	0.00003
NM_000048.4(ASL):c.1154G>A (p.Arg385His)	rs746120802	0.00002
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met)	rs55853199	0.00002
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp)	rs772226819	0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)	rs772708743	0.00002
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn)	rs774144200	0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)	rs63750617	0.00002
NM_000256.3(MYBPC3):c.26-2A>G	rs376395543	0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)	rs193922390	0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)	rs104894526	0.00002
NM_000317.3(PTS):c.400G>A (p.Glu134Lys)	rs779681799	0.00002
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)	rs61755771	0.00002
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)	rs61751403	0.00002
NM_000492.4(CFTR):c.328G>C (p.Asp110His)	rs113993958	0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)	rs374705585	0.00002
NM_000512.5(GALNS):c.938C>T (p.Thr313Met)	rs894525161	0.00002
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)	rs397509365	0.00002
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)	rs373371572	0.00002
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys)	rs193922764	0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)	rs193922797	0.00002
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu)	rs753508874	0.00002
NM_000546.6(TP53):c.523C>T (p.Arg175Cys)	rs138729528	0.00002
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)	rs113994129	0.00002
NM_001008537.3(NEXMIF):c.3728G>A (p.Arg1243His)	rs1256402686	0.00002
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg)	rs104894187	0.00002
NM_001099922.3(ALG13):c.1210G>A (p.Glu404Lys)	rs1272022379	0.00002
NM_001126108.2(SLC12A3):c.1067C>T (p.Ala356Val)	rs1280772093	0.00002
NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile)	rs746532292	0.00002
NM_001135146.2(SLC39A8):c.112G>C (p.Gly38Arg)	rs778210210	0.00002
NM_001353108.3(CEP63):c.1068-1G>A	rs752207334	0.00002
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys)	rs1303837541	0.00002
NM_002437.5(MPV17):c.376-9T>G	rs368900406	0.00002
NM_002878.4(RAD51D):c.451C>T (p.Gln151Ter)	rs587781756	0.00002
NM_003907.3(EIF2B5):c.664C>T (p.Arg222Trp)	rs151061485	0.00002
NM_004092.4(ECHS1):c.817A>G (p.Lys273Glu)	rs565090080	0.00002
NM_004360.5(CDH1):c.188G>A (p.Arg63Gln)	rs587780117	0.00002
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu)	rs104894586	0.00002
NM_005340.7(HINT1):c.334C>A (p.His112Asn)	rs373849532	0.00002
NM_005912.3(MC4R):c.542G>A (p.Gly181Asp)	rs13447333	0.00002
NM_006831.3(CLP1):c.419G>A (p.Arg140His)	rs587777616	0.00002
NM_006996.3(SLC19A2):c.1001G>A (p.Gly334Asp)	rs199921604	0.00002
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val)	rs373073383	0.00002
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val)	rs121917882	0.00002
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys)	rs121918527	0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)	rs104886308	0.00002
NM_058216.3(RAD51C):c.706-2A>G	rs587780259	0.00002
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp)	rs754875934	0.00002
NM_206933.4(USH2A):c.11048-2A>G	rs200871041	0.00002
NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys)	rs1131691686	0.00001
NM_000038.6(APC):c.220+2T>A	rs587781809	0.00001
NM_000051.4(ATM):c.1898+2T>G	rs587782124	0.00001
NM_000051.4(ATM):c.332-1G>A	rs747855862	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_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)	rs775055397	0.00001
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter)	rs1057516964	0.00001
NM_000059.4(BRCA2):c.1441A>G (p.Ile481Val)	rs760559435	0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)	rs80359013	0.00001
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)	rs80359014	0.00001
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)	rs41293511	0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)	rs80359075	0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp)	rs45580035	0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)	rs28897759	0.00001
NM_000070.3(CAPN3):c.1696G>A (p.Glu566Lys)	rs747819910	0.00001
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys)	rs773001194	0.00001
NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe)	rs72645362	0.00001
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)	rs72656387	0.00001
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg)	rs200672668	0.00001
NM_000135.4(FANCA):c.709+5G>A	rs759877008	0.00001
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter)	rs80356485	0.00001
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro)	rs1249991480	0.00001
NM_000156.6(GAMT):c.407C>T (p.Thr136Met)	rs374724533	0.00001
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr)	rs74500255	0.00001
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys)	rs797044776	0.00001
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln)	rs750889782	0.00001
NM_000186.4(CFH):c.157C>T (p.Arg53Cys)	rs757785149	0.00001
NM_000199.5(SGSH):c.1093C>T (p.Gln365Ter)	rs1459579613	0.00001
NM_000199.5(SGSH):c.1A>G (p.Met1Val)	rs1250300189	0.00001
NM_000199.5(SGSH):c.267C>A (p.Tyr89Ter)	rs1479456289	0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)	rs199472815	0.00001
NM_000218.3(KCNQ1):c.477+1G>A	rs762814879	0.00001
NM_000218.3(KCNQ1):c.683+5G>A	rs397508122	0.00001
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His)	rs199472720	0.00001
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val)	rs193922365	0.00001
NM_000237.3(LPL):c.337T>C (p.Trp113Arg)	rs118204069	0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)	rs397516037	0.00001
NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr)	rs397516202	0.00001
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met)	rs28942104	0.00001
NM_000276.4(OCRL):c.1009C>T (p.Arg337Cys)	rs137853831	0.00001
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu)	rs746043871	0.00001
NM_000314.8(PTEN):c.269T>C (p.Phe90Ser)	rs1859965098	0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys)	rs121913293	0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp)	rs137854602	0.00001
NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg)	rs199473305	0.00001
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter)	rs61750137	0.00001
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp)	rs771038310	0.00001
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln)	rs547150342	0.00001
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln)	rs367850779	0.00001
NM_000374.5(UROD):c.616C>T (p.Gln206Ter)	rs771824413	0.00001
NM_000387.6(SLC25A20):c.824G>A (p.Arg275Gln)	rs376342597	0.00001
NM_000455.5(STK11):c.614C>T (p.Ala205Val)	rs587782468	0.00001
NM_000455.5(STK11):c.632G>A (p.Arg211Gln)	rs730881982	0.00001
NM_000465.4(BARD1):c.2216A>G (p.Tyr739Cys)	rs777013688	0.00001
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu)	rs199476375	0.00001
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser)	rs74315459	0.00001
NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg)	rs397508154	0.00001
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr)	rs397508191	0.00001
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys)	rs79282516	0.00001
NM_000492.4(CFTR):c.1589T>A (p.Ile530Asn)	rs1338239866	0.00001
NM_000492.4(CFTR):c.164+12T>C	rs121908790	0.00001
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile)	rs397508293	0.00001
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe)	rs186089140	0.00001
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter)	rs121908749	0.00001
NM_000492.4(CFTR):c.2679G>T (p.Gly893=)	rs397508419	0.00001
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn)	rs369521395	0.00001
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys)	rs121909008	0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp)	rs386134230	0.00001
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter)	rs397508461	0.00001
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)	rs397508498	0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)	rs397508600	0.00001
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu)	rs121909040	0.00001
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu)	rs397508607	0.00001
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)	rs397508609	0.00001
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr)	rs200955612	0.00001
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro)	rs397508674	0.00001
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser)	rs397508692	0.00001
NM_000492.4(CFTR):c.4242+1G>T	rs372227120	0.00001
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser)	rs397508727	0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val)	rs397508763	0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)	rs397508783	0.00001
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr)	rs397508804	0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)	rs75763344	0.00001
NM_000521.4(HEXB):c.771+985G>A	rs1210377071	0.00001
NM_000523.4(HOXD13):c.916C>T (p.Arg306Trp)	rs28933082	0.00001
NM_000527.4(LDLR):c.313+1G>A	rs112029328	0.00001
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr)	rs730882099	0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)	rs368562025	0.00001
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)	rs570942190	0.00001
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)	rs28942078	0.00001
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)	rs879254867	0.00001
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met)	rs755154048	0.00001
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)	rs769370816	0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)	rs730882110	0.00001
NM_000527.5(LDLR):c.1966C>A (p.His656Asn)	rs762815611	0.00001
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)	rs121908031	0.00001
NM_000527.5(LDLR):c.211G>A (p.Gly71Arg)	rs766903209	0.00001
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter)	rs1057516127	0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)	rs121908025	0.00001
NM_000527.5(LDLR):c.299A>T (p.Asp100Val)	rs879254460	0.00001
NM_000527.5(LDLR):c.313+2T>C	rs793888517	0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)	rs769383881	0.00001
NM_000527.5(LDLR):c.392A>G (p.Asp131Gly)	rs730882081	0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)	rs200727689	0.00001
NM_000527.5(LDLR):c.632A>T (p.His211Leu)	rs879254603	0.00001
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn)	rs875989906	0.00001
NM_000527.5(LDLR):c.67+1G>A	rs762417023	0.00001
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro)	rs879254667	0.00001
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu)	rs730882090	0.00001
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)	rs29001566	0.00001
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)	rs193922839	0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His)	rs139161723	0.00001
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)	rs118192168	0.00001
NM_000540.3(RYR1):c.1951C>T (p.Arg651Ter)	rs754522209	0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)	rs193922809	0.00001
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)	rs118192122	0.00001
NM_000543.5(SMPD1):c.502G>A (p.Gly168Arg)	rs1847910654	0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys)	rs200763423	0.00001
NM_000546.6(TP53):c.455C>T (p.Pro152Leu)	rs587782705	0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His)	rs397514495	0.00001
NM_000546.6(TP53):c.711G>A (p.Met237Ile)	rs587782664	0.00001
NM_000548.5(TSC2):c.2521G>A (p.Val841Ile)	rs549612492	0.00001
NM_000553.6(WRN):c.673C>T (p.Arg225Ter)	rs370324188	0.00001
NM_000702.4(ATP1A2):c.2152G>A (p.Asp718Asn)	rs121918614	0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)	rs121908098	0.00001
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp)	rs766209297	0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)	rs1057518897	0.00001
NM_001040142.2(SCN2A):c.2046G>T (p.Lys682Asn)	rs756493732	0.00001
NM_001042492.3(NF1):c.3722G>A (p.Arg1241Gln)	rs543387071	0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)	rs760703505	0.00001
NM_001042492.3(NF1):c.5812+332A>G	rs863224491	0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu)	rs374950566	0.00001
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp)	rs1434169817	0.00001
NM_001134407.3(GRIN2A):c.1343A>G (p.Glu448Gly)	rs1273711716	0.00001
NM_001134407.3(GRIN2A):c.2966A>G (p.Asn989Ser)	rs531782747	0.00001
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter)	rs797045089	0.00001
NM_001164508.2(NEB):c.19543C>T (p.Arg6515Cys)	rs765363585	0.00001
NM_001171.6(ABCC6):c.105del (p.Val37fs)	rs72664223	0.00001
NM_001171.6(ABCC6):c.37-1G>A	rs72657702	0.00001
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser)	rs587784299	0.00001
NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr)	rs201018751	0.00001
NM_001271.4(CHD2):c.3386A>G (p.Glu1129Gly)	rs927604763	0.00001
NM_001347721.2(DYRK1A):c.649C>T (p.Arg217Cys)	rs1462221945	0.00001
NM_001378454.1(ALMS1):c.11669-1G>A	rs750737346	0.00001
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter)	rs749523755	0.00001
NM_001458.5(FLNC):c.3791-1G>C	rs781135153	0.00001
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp)	rs369774476	0.00001
NM_001673.5(ASNS):c.1439C>T (p.Ser480Phe)	rs754043007	0.00001
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg)	rs797044947	0.00001
NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn)	rs387906610	0.00001
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln)	rs778117194	0.00001
NM_002016.2(FLG):c.5476G>T (p.Gly1826Ter)	rs760904028	0.00001
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)	rs137852647	0.00001
NM_002180.3(IGHMBP2):c.1183T>C (p.Cys395Arg)	rs1347461335	0.00001
NM_002225.5(IVD):c.149G>A (p.Arg50His)	rs2229311	0.00001
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter)	rs745993071	0.00001
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)	rs397507541	0.00001
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter)	rs1135402725	0.00001
NM_003482.4(KMT2D):c.7538G>A (p.Gly2513Glu)	rs1943441906	0.00001
NM_003721.4(RFXANK):c.438+5G>A	rs1196984337	0.00001
NM_003738.5(PTCH2):c.1296_1300del (p.Val433fs)	rs781171287	0.00001
NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln)	rs752742151	0.00001
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)	rs387906660	0.00001
NM_004531.5(MOCS2):c.226G>A (p.Gly76Arg)	rs780085174	0.00001
NM_004975.4(KCNB1):c.898C>T (p.Arg300Cys)	rs202170806	0.00001
NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys)	rs185476065	0.00001
NM_005051.3(QARS1):c.1207C>T (p.Arg403Trp)	rs587777332	0.00001
NM_005051.3(QARS1):c.1389-3C>A	rs368358627	0.00001
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln)	rs267606708	0.00001
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter)	rs369841551	0.00001
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp)	rs13447332	0.00001
NM_005912.3(MC4R):c.779C>A (p.Pro260Gln)	rs1435358988	0.00001
NM_006031.6(PCNT):c.3465-1G>A	rs755084205	0.00001
NM_006295.3(VARS1):c.3622C>T (p.Arg1208Ter)	rs776596987	0.00001
NM_006767.4(LZTR1):c.2407-2A>G	rs1158550690	0.00001
NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu)	rs587777177	0.00001
NM_006941.4(SOX10):c.482G>A (p.Arg161His)	rs750566714	0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys)	rs201206424	0.00001
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys)	rs587780169	0.00001
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr)	rs786203192	0.00001
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu)	rs587784367	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.5503C>T (p.Arg1835Ter)	rs41293465	0.00001
NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr)	rs995403413	0.00001
NM_012200.4(B3GAT3):c.505C>T (p.Arg169Trp)	rs766019547	0.00001
NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr)	rs782457908	0.00001
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg)	rs121912631	0.00001
NM_014362.4(HIBCH):c.226G>A (p.Glu76Lys)	rs778434126	0.00001
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)	rs762947018	0.00001
NM_014844.5(TECPR2):c.3416del (p.Leu1139fs)	rs751970061	0.00001
NM_014875.3(KIF14):c.103C>T (p.Arg35Ter)	rs774318019	0.00001
NM_015046.7(SETX):c.2788A>G (p.Ser930Gly)	rs770694223	0.00001
NM_015330.6(SPECC1L):c.3247G>A (p.Gly1083Ser)	rs786201031	0.00001
NM_015340.4(LARS2):c.1249A>G (p.Met417Val)	rs763616548	0.00001
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys)	rs1163170578	0.00001
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)	rs387907196	0.00001
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter)	rs199867882	0.00001
NM_016373.4(WWOX):c.49G>A (p.Glu17Lys)	rs780345312	0.00001
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp)	rs564185858	0.00001
NM_017780.4(CHD7):c.860C>T (p.Pro287Leu)	rs762290343	0.00001
NM_017934.7(PHIP):c.2902C>T (p.Arg968Ter)	rs200788163	0.00001
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)	rs398123009	0.00001
NM_020374.4(FERRY3):c.1360C>T (p.Arg454Ter)	rs749969789	0.00001
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His)	rs1023136319	0.00001
NM_022336.4(EDAR):c.292C>T (p.Arg98Trp)	rs557166582	0.00001
NM_022370.4(ROBO3):c.733C>T (p.Arg245Trp)	rs121918277	0.00001
NM_022455.5(NSD1):c.5843G>A (p.Arg1948His)	rs746726463	0.00001
NM_024063.3(AFG2B):c.2066G>T (p.Gly689Val)	rs777812455	0.00001
NM_024537.4(CARS2):c.649_651del (p.Glu217del)	rs753472937	0.00001
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)	rs180177083	0.00001
NM_024884.3(L2HGDH):c.905C>T (p.Pro302Leu)	rs118204020	0.00001
NM_031433.4(MFRP):c.855T>A (p.Cys285Ter)	rs1243587288	0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser)	rs104886237	0.00001
NM_052874.5(STX1B):c.845T>C (p.Ile282Thr)	rs763428520	0.00001
NM_052965.4(TSEN15):c.346C>T (p.His116Tyr)	rs879253780	0.00001
NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp)	rs765730332	0.00001
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter)	rs140936527	0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro)	rs121908426	0.00001
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)	rs57920071	0.00001
NM_198282.4(STING1):c.841C>T (p.Arg281Trp)	rs750077345	0.00001
NM_198428.3(BBS9):c.1138G>T (p.Glu380Ter)	rs370729939	0.00001
NM_201525.4(ADGRG1):c.286C>T (p.Arg96Ter)	rs146278035	0.00001
NM_201548.5(CERKL):c.1074-1G>C	rs927261937	0.00001
NM_206933.4(USH2A):c.6926G>T (p.Cys2309Phe)	rs748983904	0.00001
NC_000023.11:g.70027902_70027919del	rs397516668
NC_012920.1(MT-ATP6):m.9185T>C	rs199476138
NC_012920.1(MT-ND1):m.3946G>A	rs199476123
NC_012920.1(MT-TL1):m.3243A>G	rs199474657
NC_012920.1(MT-TW):m.5521G>A	rs199474673
NM_000021.4(PSEN1):c.697A>G (p.Met233Val)	rs63751287
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)	rs780264754
NM_000030.3(AGXT):c.1110_1111del (p.Asn372fs)	rs796052075
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)	rs128624221
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro)	rs2148399015
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)	rs4010613
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr)	rs1557055316
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr)	rs782041940
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)	rs1557055340
NM_000033.4(ABCD1):c.310C>T (p.Arg104Cys)	rs2148388971
NM_000033.4(ABCD1):c.311G>A (p.Arg104His)	rs1557052302
NM_000033.4(ABCD1):c.479T>C (p.Leu160Pro)	rs2091707324
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met)	rs1131691743
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys)	rs797044610
NM_000038.6(APC):c.1312+5G>A	rs886039507
NM_000038.6(APC):c.2396_2397del (p.Tyr799fs)	rs2533418190
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)	rs121913224
NM_000038.6(APC):c.4222G>T (p.Glu1408Ter)	rs1554085632
NM_000038.6(APC):c.646-2A>C	rs777848503
NM_000041.4(APOE):c.460C>T (p.Arg154Cys)
NM_000043.6(FAS):c.748C>T (p.Arg250Ter)	rs778993919
NM_000048.4(ASL):c.1207del (p.Val403fs)	rs1554328363
NM_000051.4(ATM):c.331+5G>A	rs752135143
NM_000051.4(ATM):c.5497-2A>C	rs786203796
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)	rs397514577
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)	rs587776547
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)	rs587782719
NM_000052.7(ATP7A):c.1782C>G (p.Tyr594Ter)	rs797045336
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)	rs80359351
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs)	rs80359276
NM_000059.4(BRCA2):c.3739del (p.Ile1247fs)	rs886040494
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs)	rs80359454
NM_000059.4(BRCA2):c.4548del (p.Glu1518fs)	rs2072507154
NM_000059.4(BRCA2):c.4889C>A (p.Ser1630Ter)	rs80358711
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg)	rs80359012
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg)	rs80359024
NM_000059.4(BRCA2):c.8323dup (p.Met2775fs)	rs276174904
NM_000059.4(BRCA2):c.8954-5A>G	rs886040949
NM_000062.3(SERPING1):c.1397G>A (p.Arg466His)	rs121907948
NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=)	rs143999390
NM_000070.3(CAPN3):c.550del (p.Thr184fs)	rs80338800
NM_000083.3(CLCN1):c.1568G>T (p.Gly523Val)	rs1460714146
NM_000088.4(COL1A1):c.1461+2T>G	rs1907417140
NM_000088.4(COL1A1):c.3360del (p.Gly1121fs)	rs1260429820
NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser)	rs587779692
NM_000092.5(COL4A4):c.4334-23A>G	rs766501515
NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup)	rs193922900
NM_000095.3(COMP):c.886C>T (p.Pro296Ser)	rs749583854
NM_000127.3(EXT1):c.70G>T (p.Gly24Ter)	rs1817893036
NM_000138.5(FBN1):c.2207A>G (p.Asn736Ser)	rs1566912242
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys)	rs1555398625
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser)	rs137854461
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	rs4647924
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)	rs367543046
NM_000143.4(FH):c.194A>T (p.Asp65Val)	rs145116688
NM_000147.5(FUCA1):c.768+1G>A	rs1639468949
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp)	rs879254099
NM_000170.3(GLDC):c.2167C>T (p.Gln723Ter)	rs779434645
NM_000179.3(MSH6):c.313del (p.Trp105fs)	rs1572708636
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)	rs267608078
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)	rs61750173
NM_000188.3(HK1):c.1370C>T (p.Thr457Met)	rs1057517928
NM_000195.5(HPS1):c.972dup (p.Met325fs)	rs281865082
NM_000214.3(JAG1):c.2579G>A (p.Gly860Glu)	rs762121866
NM_000214.3(JAG1):c.713G>A (p.Cys238Tyr)	rs2122620330
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs)	rs397508104
NM_000218.3(KCNQ1):c.355G>C (p.Gly119Arg)	rs1325525794
NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp)	rs199473662
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu)	rs120074178
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)	rs199473456
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu)	rs120074186
NM_000218.3(KCNQ1):c.958C>T (p.Pro320Ser)	rs199472753
NM_000232.5(SGCB):c.82_86del (p.Glu28fs)	rs1553940687
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)	rs28940580
NM_000243.3(MEFV):c.2287G>A (p.Gly763Arg)	rs2141664466
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)	rs35502531
NM_000249.4(MLH1):c.1896G>A (p.Glu632=)	rs63751632
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr)	rs63750437
NM_000249.4(MLH1):c.790+4A>G	rs267607786
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)	rs63751194
NM_000251.3(MSH2):c.2562del (p.Gln855fs)	rs1114167836
NM_000251.3(MSH2):c.482T>C (p.Val161Ala)	rs63750126
NM_000251.3(MSH2):c.942+25_942+29del	rs11309117
NM_000251.3(MSH2):c.942G>A (p.Gln314=)	rs587779197
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)	rs63750828
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly)	rs397515905
NM_000256.3(MYBPC3):c.1595dup (p.Gln533fs)	rs730880640
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln)	rs397516089
NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys)	rs727505026
NM_000260.4(MYO7A):c.133-7C>T	rs111033221
NM_000263.4(NAGLU):c.219_237del (p.Arg74fs)	rs1431589133
NM_000264.5(PTCH1):c.2286_2287dup (p.Val763fs)	rs1840109796
NM_000264.5(PTCH1):c.3395C>T (p.Ser1132Phe)	rs1588528503
NM_000266.4(NDP):c.109C>T (p.Arg37Ter)	rs398123283
NM_000271.5(NPC1):c.3591+2T>C	rs1555631888
NM_000275.3(OCA2):c.173_176dup (p.Ser59fs)	rs2548671260
NM_000277.3(PAH):c.929C>T (p.Ser310Phe)	rs62642913
NM_000282.4(PCCA):c.1209+3A>G	rs1467680142
NM_000284.4(PDHA1):c.868C>T (p.His290Tyr)	rs2147184502
NM_000292.3(PHKA2):c.2597+2dup	rs2047830748
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys)	rs558826439
NM_000306.4(POU1F1):c.143-64T>G	rs1064796954
NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu)	rs104894922
NM_000314.8(PTEN):c.103A>G (p.Met35Val)	rs876659443
NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr)	rs876660535
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu)	rs121909229
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)	rs1060500126
NM_000322.5(PRPH2):c.692C>G (p.Ser231Ter)	rs1554269046
NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp)	rs62645935
NM_000322.5(PRPH2):c.904G>T (p.Glu302Ter)	rs61748430
NM_000329.3(RPE65):c.859G>T (p.Val287Phe)	rs281865289
NM_000330.4(RS1):c.214G>A (p.Glu72Lys)	rs104894928
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)	rs749697698
NM_000350.3(ABCA4):c.1357-2A>G	rs886044726
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)	rs61748529
NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp)	rs62642562
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys)	rs137852671
NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln)	rs730881069
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter)	rs118203537
NM_000368.5(TSC1):c.2625+367A>G	rs1564474542
NM_000368.5(TSC1):c.2787T>A (p.Tyr929Ter)	rs753980869
NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter)	rs118203735
NM_000368.5(TSC1):c.509-1G>A	rs1554819620
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter)	rs118203434
NM_000368.5(TSC1):c.737+3A>G	rs118203439
NM_000371.4(TTR):c.233T>A (p.Leu78His)	rs121918069
NM_000371.4(TTR):c.326A>T (p.Glu109Val)	rs2073511444
NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del)	rs562574661
NM_000405.5(GM2A):c.262_264del (p.Lys88del)	rs1753894328
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)	rs137853097
NM_000423.3(KRT2):c.542A>C (p.Gln181Pro)	rs57510142
NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys)	rs1599391536
NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys)	rs1555730189
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)	rs75068032
NM_000435.3(NOTCH3):c.1774C>T (p.Arg592Cys)	rs764148985
NM_000435.3(NOTCH3):c.3091C>T (p.Arg1031Cys)	rs1285584068
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys)	rs775836288
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)	rs28933696
NM_000454.5(SOD1):c.217G>A (p.Gly73Ser)	rs121912455
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del)	rs28997575
NM_000465.4(BARD1):c.159-1G>T	rs879254139
NM_000465.4(BARD1):c.1811-2A>G	rs1693044156
NM_000478.6(ALPL):c.500C>T (p.Thr167Met)	rs1408325840
NM_000487.6(ARSA):c.467G>A (p.Gly156Asp)	rs74315463
NM_000487.6(ARSA):c.506C>G (p.Pro169Arg)	rs74315465
NM_000489.6(ATRX):c.6532C>T (p.Arg2178Trp)	rs1057517707
NM_000490.5(AVP):c.229GAG[1] (p.Glu78del)	rs2066119604
NM_000490.5(AVP):c.287G>T (p.Gly96Val)	rs121964886
NM_000492.3(CFTR):c.1210-12T[5]	rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu)	rs397508137
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys)	rs397508139
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro)	rs397508144
NM_000492.4(CFTR):c.1037T>C (p.Leu346Pro)	rs397508146
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter)	rs397508165
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter)	rs367934560
NM_000492.4(CFTR):c.1329_1350del (p.Asp443fs)	rs1562895066
NM_000492.4(CFTR):c.1366G>T (p.Val456Phe)	rs397508195
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	rs193922500
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro)	rs1554382664
NM_000492.4(CFTR):c.1388G>A (p.Gly463Asp)	rs1163866901
NM_000492.4(CFTR):c.1392+1G>A	rs397508197
NM_000492.4(CFTR):c.1420G>A (p.Glu474Lys)	rs756206533
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)	rs79282516
NM_000492.4(CFTR):c.1478A>T (p.Gln493Leu)	rs397508214
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)	rs397508224
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met)	rs1800092
NM_000492.4(CFTR):c.1540G>T (p.Glu514Ter)	rs1799425190
NM_000492.4(CFTR):c.1550A>C (p.Tyr517Ser)	rs1562898496
NM_000492.4(CFTR):c.1584+2T>C	rs397508231
NM_000492.4(CFTR):c.1585-2A>G	rs397508233
NM_000492.4(CFTR):c.164+1G>T	rs397508243
NM_000492.4(CFTR):c.1680-877G>T	rs397508261
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser)	rs397508267
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser)	rs397508280
NM_000492.4(CFTR):c.1730A>T (p.Tyr577Phe)	rs397508286
NM_000492.4(CFTR):c.1860T>G (p.His620Gln)	rs397508315
NM_000492.4(CFTR):c.1969A>T (p.Arg657Ter)	rs1792036190
NM_000492.4(CFTR):c.1979C>G (p.Ser660Ter)	rs1562907896
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter)	rs397508327
NM_000492.4(CFTR):c.221G>C (p.Arg74Pro)	rs142540482
NM_000492.4(CFTR):c.2644_2645dup (p.Trp882fs)	rs1554390864
NM_000492.4(CFTR):c.2739T>G (p.Tyr913Ter)	rs149790377
NM_000492.4(CFTR):c.2875del (p.Ala959fs)	rs397508447
NM_000492.4(CFTR):c.2909-15T>G	rs397508455
NM_000492.4(CFTR):c.2929T>C (p.Ser977Pro)	rs137975784
NM_000492.4(CFTR):c.3011_3019del (p.Ala1004_Ala1006del)	rs1562914072
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg)	rs397508479
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)	rs121908767
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter)	rs397508496
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg)	rs121909036
NM_000492.4(CFTR):c.3197G>T (p.Arg1066Leu)	rs121909019
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe)	rs397508520
NM_000492.4(CFTR):c.3254A>G (p.His1085Arg)	rs79635528
NM_000492.4(CFTR):c.327T>A (p.Tyr109Ter)	rs397508528
NM_000492.4(CFTR):c.3368-2A>G	rs755416052
NM_000492.4(CFTR):c.3410T>G (p.Met1137Arg)	rs397508555
NM_000492.4(CFTR):c.3469-2A>G	rs397508570
NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe)	rs397508573
NM_000492.4(CFTR):c.350G>A (p.Arg117His)	rs78655421
NM_000492.4(CFTR):c.350G>C (p.Arg117Pro)	rs78655421
NM_000492.4(CFTR):c.3717+1G>A	rs750558115
NM_000492.4(CFTR):c.3717+5G>A	rs193922520
NM_000492.4(CFTR):c.3717G>A (p.Arg1239=)	rs144781064
NM_000492.4(CFTR):c.3718-3T>G	rs397508596
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly)	rs397508598
NM_000492.4(CFTR):c.3873+1G>T	rs143570767
NM_000492.4(CFTR):c.3873+2T>C	rs146795445
NM_000492.4(CFTR):c.3874-1G>A	rs397508624
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile)	rs397508634
NM_000492.4(CFTR):c.3929G>A (p.Trp1310Ter)	rs397508645
NM_000492.4(CFTR):c.3971T>C (p.Leu1324Pro)	rs397508653
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs)	rs1057516457
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)	rs397508658
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp)	rs193922525
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn)	rs200955612
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup)	rs397508686
NM_000492.4(CFTR):c.4197_4198del (p.Leu1399_Cys1400insTer)	rs397508693
NM_000492.4(CFTR):c.4242+1G>A	rs372227120
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs)	rs397508709
NM_000492.4(CFTR):c.449T>A (p.Met150Lys)	rs1562889397
NM_000492.4(CFTR):c.454A>G (p.Met152Val)	rs397508721
NM_000492.4(CFTR):c.488A>T (p.Lys163Met)	rs1562889435
NM_000492.4(CFTR):c.49_50del (p.Phe17fs)	rs397508714
NM_000492.4(CFTR):c.523A>G (p.Ile175Val)	rs397508744
NM_000492.4(CFTR):c.533G>A (p.Gly178Glu)	rs397508748
NM_000492.4(CFTR):c.567C>A (p.Asn189Lys)	rs397508755
NM_000492.4(CFTR):c.580G>A (p.Gly194Arg)	rs376008630
NM_000492.4(CFTR):c.744-2A>G	rs1057516646
NM_000492.4(CFTR):c.79G>A (p.Gly27Arg)	rs397508796
NM_000500.9(CYP21A2):c.293-13C>G	rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)	rs6471
NM_000512.5(GALNS):c.143T>G (p.Val48Gly)	rs191519947
NM_000520.6(HEXA):c.1123del (p.Glu375fs)	rs766138785
NM_000520.6(HEXA):c.749G>A (p.Gly250Asp)	rs121907959
NM_000527.5(LDLR):c.1061-2A>G	rs879254773
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly)	rs755449669
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys)	rs879254781
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val)	rs752951310
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys)	rs137943601
NM_000527.5(LDLR):c.1352T>C (p.Ile451Thr)	rs879254874
NM_000527.5(LDLR):c.1381G>A (p.Gly461Ser)	rs193922568
NM_000527.5(LDLR):c.1394A>G (p.Tyr465Cys)	rs879254889
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)	rs373646964
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)	rs137853960
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)	rs28942080
NM_000527.5(LDLR):c.1678A>T (p.Ile560Phe)	rs1131692213
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp)	rs397509365
NM_000527.5(LDLR):c.1880C>A (p.Ala627Asp)	rs875989934
NM_000527.5(LDLR):c.1904_1905del (p.Thr635fs)	rs2077524382
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp)	rs794728584
NM_000527.5(LDLR):c.2001T>G (p.Cys667Trp)	rs879255109
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)	rs875989944
NM_000527.5(LDLR):c.283T>A (p.Cys95Ser)	rs879254456
NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg)	rs879254476
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)	rs557344672
NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr)	rs875989906
NM_000527.5(LDLR):c.671A>T (p.Asp224Val)	rs879254630
NM_000527.5(LDLR):c.818-1G>A	rs879254688
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)	rs2228671
NM_000527.5(LDLR):c.826T>C (p.Cys276Arg)	rs879254692
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)	rs140241383
NM_000527.5(LDLR):c.906C>G (p.Cys302Trp)	rs879254716
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)	rs80338680
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)	rs121913595
NM_000531.6(OTC):c.618G>A (p.Met206Ile)	rs72558413
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)	rs63750668
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)	rs587780059
NM_000540.3(RYR1):c.1202G>T (p.Arg401Leu)	rs193922766
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)	rs118192170
NM_000540.3(RYR1):c.38T>G (p.Leu13Arg)	rs193922744
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys)	rs118192161
NM_000546.6(TP53):c.394A>G (p.Lys132Glu)	rs747342068
NM_000546.6(TP53):c.559+1G>T	rs1131691042
NM_000546.6(TP53):c.737T>G (p.Met246Arg)	rs587780074
NM_000546.6(TP53):c.774A>C (p.Glu258Asp)	rs2073239956
NM_000546.6(TP53):c.835G>A (p.Gly279Arg)	rs1555525248
NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu)	rs45517236
NM_000548.5(TSC2):c.2531T>C (p.Leu844Pro)	rs397515303
NM_000548.5(TSC2):c.2647C>T (p.Gln883Ter)	rs45476100
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)	rs45517259
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys)	rs45517360
NM_000548.5(TSC2):c.5068G>A (p.Asp1690Asn)	rs137854882
NM_000548.5(TSC2):c.975+1G>A	rs137854200
NM_000552.5(VWF):c.4636del (p.Met1545_Val1546insTer)	rs267607345
NM_000612.6(IGF2):c.195del (p.Ile66fs)	rs1858779370
NM_000642.3(AGL):c.1736-11A>G	rs2101148246
NM_000685.5(AGTR1):c.415C>T (p.Arg139Ter)	rs1417391173
NM_000702.4(ATP1A2):c.1133C>A (p.Thr378Asn)	rs28934002
NM_000709.4(BCKDHA):c.740A>G (p.His247Arg)	rs1468416468
NM_000709.4(BCKDHA):c.773_774delinsAA (p.Cys258Ter)	rs2122143379
NM_000719.7(CACNA1C):c.583T>C (p.Trp195Arg)	rs2154562876
NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu)	rs74315291
NM_000812.4(GABRB1):c.860C>T (p.Thr287Ile)	rs886039818
NM_000829.4(GRIA4):c.2090G>C (p.Arg697Pro)	rs765556214
NM_000834.5(GRIN2B):c.1306T>C (p.Cys436Arg)	rs1565478152
NM_000834.5(GRIN2B):c.1367G>A (p.Cys456Tyr)	rs397514555
NM_000834.5(GRIN2B):c.1619G>A (p.Arg540His)	rs672601378
NM_000834.5(GRIN2B):c.1658C>T (p.Pro553Leu)	rs397514556
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile)	rs1057519004
NM_000834.5(GRIN2B):c.1820G>C (p.Trp607Ser)	rs1591638805
NM_000834.5(GRIN2B):c.2044C>T (p.Arg682Cys)	rs387906636
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)	rs869312868
NM_000834.5(GRIN2B):c.2252T>C (p.Ile751Thr)	rs876661055
NM_000834.5(GRIN2B):c.2459G>A (p.Gly820Glu)	rs797044849
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala)	rs797044849
NM_000834.5(GRIN2B):c.2471T>G (p.Met824Arg)	rs1565455878
NM_000834.5(GRIN2B):c.2477G>A (p.Gly826Glu)	rs1064794979
NM_000834.5(GRIN2B):c.99dup (p.Ser34fs)	rs398122823
NM_000836.4(GRIN2D):c.1345G>A (p.Asp449Asn)	rs1569064110
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile)	rs886040861
NM_000836.4(GRIN2D):c.2008C>T (p.Leu670Phe)	rs1600982189
NM_000875.5(IGF1R):c.119G>A (p.Arg40His)	rs1409058783
NM_000937.5(POLR2A):c.5428C>T (p.Arg1810Ter)	rs2070732825
NM_001002755.4(NFU1):c.565G>A (p.Gly189Arg)	rs2104735490
NM_001005242.3(PKP2):c.1A>G (p.Met1Val)	rs794729107
NM_001005242.3(PKP2):c.2357+1G>T	rs111517471
NM_001005242.3(PKP2):c.2377del (p.Ser793fs)	rs727504432
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln)	rs1567861501
NM_001005273.3(CHD3):c.3560G>A (p.Arg1187His)
NM_001005273.3(CHD3):c.3560G>C (p.Arg1187Pro)	rs1567861571
NM_001005373.4(LRSAM1):c.2120C>T (p.Pro707Leu)	rs797044913
NM_001009944.3(PKD1):c.11017-10C>A	rs555703777
NM_001009944.3(PKD1):c.11412-7_11468del	rs2544620556
NM_001009944.3(PKD1):c.3262_3263insT (p.Glu1088fs)	rs1596566156
NM_001009944.3(PKD1):c.3401_3404del (p.Ser1134fs)	rs1567204146
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser)	rs2092437527
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys)	rs2092203712
NM_001009944.3(PKD1):c.9154G>C (p.Gly3052Arg)
NM_001017995.3(SH3PXD2B):c.969del (p.Arg324fs)	rs794728006
NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val)	rs137853113
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)	rs886041246
NM_001032221.6(STXBP1):c.125CCT[1] (p.Ser43del)	rs796053381
NM_001032221.6(STXBP1):c.326-1G>T	rs1554776948
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)	rs796053353
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)	rs1841141204
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln)	rs794727970
NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys)	rs587777310
NM_001034853.2(RPGR):c.2628_2629del (p.Glu877fs)	rs2067166789
NM_001035.3(RYR2):c.6532G>A (p.Val2178Ile)	rs794728821
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys)	rs1131692231
NM_001040142.2(SCN2A):c.1570C>T (p.Arg524Ter)	rs1553569754
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)	rs121917753
NM_001040142.2(SCN2A):c.710T>C (p.Ile237Thr)	rs1697360061
NM_001042424.3(NSD2):c.3295G>A (p.Glu1099Lys)	rs772470710
NM_001042475.3(CEP85L):c.182C>T (p.Ser61Phe)	rs1554234607
NM_001042492.3(NF1):c.1186-1G>C	rs876660782
NM_001042492.3(NF1):c.1642-449A>G	rs863224655
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg)	rs199474760
NM_001042492.3(NF1):c.269T>G (p.Leu90Arg)	rs1555605393
NM_001042492.3(NF1):c.2823del (p.Ser942fs)	rs2067074423
NM_001042492.3(NF1):c.288+5G>A	rs1555605409
NM_001042492.3(NF1):c.3448T>C (p.Ser1150Pro)	rs2067137547
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser)	rs199474764
NM_001042492.3(NF1):c.4321T>G (p.Leu1441Val)	rs786201458
NM_001042492.3(NF1):c.4332G>A (p.Lys1444=)	rs199474750
NM_001042492.3(NF1):c.4332G>C (p.Lys1444Asn)	rs199474750
NM_001042492.3(NF1):c.4738G>T (p.Glu1580Ter)	rs2067764827
NM_001042492.3(NF1):c.5269-14C>G	rs753463683
NM_001042492.3(NF1):c.5297C>G (p.Ser1766Ter)	rs1555533555
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])	rs864622639
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg)	rs1135402900
NM_001042492.3(NF1):c.968C>A (p.Ala323Asp)	rs2066507556
NM_001042681.2(RERE):c.3249dup (p.Ser1084fs)	rs745806637
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu)	rs104895271
NM_001077350.3(NPRL3):c.119-1G>C	rs2141981312
NM_001077350.3(NPRL3):c.434T>C (p.Leu145Pro)	rs1899872500
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu)	rs1898841618
NM_001079668.3(NKX2-1):c.613G>T (p.Glu205Ter)	rs137852693
NM_001080.3(ALDH5A1):c.1402+1G>T	rs762290992
NM_001083961.2(WDR62):c.2588G>A (p.Arg863His)	rs751765649
NM_001083962.2(TCF4):c.1744C>T (p.Arg582Cys)	rs2047109965
NM_001098484.3(SLC4A4):c.831del (p.Lys277fs)	rs1553913019
NM_001099922.3(ALG13):c.2754ACC[17] (p.Pro944_Pro945dup)	rs750710267
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)	rs398122394
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)	rs1555408401
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs)	rs267608382
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)	rs267608327
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)	rs28934907
NM_001110792.2(MECP2):c.434G>C (p.Arg145Pro)	rs61748389
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)	rs61748390
NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu)	rs61748391
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_001111125.3(IQSEC2):c.1075C>T (p.Arg359Cys)	rs267607188
NM_001112741.2(KCNC1):c.1196C>T (p.Thr399Met)	rs2133805364
NM_001114753.3(ENG):c.1586G>A (p.Arg529His)	rs863223538
NM_001114753.3(ENG):c.8G>A (p.Arg3His)	rs1588604597
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs)	rs1064794262
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)	rs1057520918
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp)	rs1555745461
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)	rs794727411
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys)	rs727503940
NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp)	rs748232676
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)	rs587784438
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys)	rs1859859572
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1])	rs587784440
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])	rs587784440
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup)	rs796053335
NM_001130438.3(SPTAN1):c.6922C>T (p.Arg2308Cys)	rs1554768992
NM_001130823.3(DNMT1):c.1814G>C (p.Gly605Ala)	rs397509393
NM_001134407.3(GRIN2A):c.1007+1G>A	rs397518465
NM_001134407.3(GRIN2A):c.1123-2A>G	rs397518469
NM_001134407.3(GRIN2A):c.1362del (p.Lys454fs)	rs2542835757
NM_001134407.3(GRIN2A):c.1447G>A (p.Gly483Arg)	rs2042667149
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser)	rs757713617
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His)	rs397518470
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met)	rs397518468
NM_001134407.3(GRIN2A):c.172G>T (p.Glu58Ter)	rs143833346
NM_001134407.3(GRIN2A):c.1841A>G (p.Asn614Ser)	rs869312916
NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys)	rs397518447
NM_001134407.3(GRIN2A):c.1903G>A (p.Ala635Thr)	rs2042449005
NM_001134407.3(GRIN2A):c.1936A>G (p.Thr646Ala)	rs1555492758
NM_001134407.3(GRIN2A):c.1945C>G (p.Leu649Val)	rs397514557
NM_001134407.3(GRIN2A):c.1954T>G (p.Phe652Val)	rs397518471
NM_001134407.3(GRIN2A):c.1961T>C (p.Ile654Thr)	rs2042447540
NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter)	rs397518472
NM_001134407.3(GRIN2A):c.2042G>A (p.Arg681Gln)	rs753203288
NM_001134407.3(GRIN2A):c.2081T>C (p.Ile694Thr)	rs2141294911
NM_001134407.3(GRIN2A):c.2138T>G (p.Val713Gly)	rs1057518070
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)	rs762659685
NM_001134407.3(GRIN2A):c.2191G>A (p.Asp731Asn)	rs796052549
NM_001134407.3(GRIN2A):c.2197G>A (p.Ala733Thr)	rs796052550
NM_001134407.3(GRIN2A):c.2278G>A (p.Gly760Ser)	rs1555488119
NM_001134407.3(GRIN2A):c.2326G>T (p.Asp776Tyr)	rs776791010
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr)	rs1064796608
NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu)	rs751455326
NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr)	rs397518466
NM_001134407.3(GRIN2A):c.414+1G>A
NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter)	rs1057524089
NM_001134407.3(GRIN2A):c.652C>T (p.Gln218Ter)	rs387906637
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser)	rs104894519
NM_001142800.2(EYS):c.1299+5_1299+8del	rs1562140604
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp)	rs122458141
NM_001160372.4(TRAPPC9):c.239T>C (p.Leu80Pro)	rs2132705299
NM_001165963.4(SCN1A):c.264+5G>A	rs794726762
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp)	rs121917965
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe)	rs1690574155
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys)	rs121917993
NM_001165963.4(SCN1A):c.5180A>G (p.Asp1727Gly)	rs1689278062
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn)	rs121917935
NM_001165963.4(SCN1A):c.965-1G>A	rs794726824
NM_001167.4(XIAP):c.542C>T (p.Pro181Leu)	rs2522585616
NM_001171.6(ABCC6):c.4209-2A>C	rs1555506740
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)	rs1057521083
NM_001182.5(ALDH7A1):c.1301_1302del (p.Tyr434fs)	rs753671880
NM_001190274.2(FBXO11):c.2145G>C (p.Lys715Asn)	rs1572764737
NM_001194.4(HCN2):c.1120A>C (p.Met374Leu)	rs1983378020
NM_001195553.2(DCX):c.184G>A (p.Asp62Asn)	rs104894779
NM_001195553.2(DCX):c.667G>A (p.Gly223Arg)	rs587783577
NM_001197104.2(KMT2A):c.478C>T (p.Arg160Ter)	rs1555034779
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter)	rs1057523275
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)	rs886039323
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)	rs12131800
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu)	rs1554389088
NM_001242896.3(DEPDC5):c.767+1G>A	rs2148514247
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln)	rs886041692
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)	rs587779388
NM_001256317.3(TMPRSS3):c.1303C>T (p.Arg435Cys)	rs565348874
NM_001267550.2(TTN):c.54406_54409del (p.Gln18136fs)	rs796943170
NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter)	rs886038916
NM_001271.4(CHD2):c.2705A>G (p.His902Arg)	rs2053935622
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu)	rs1555444603
NM_001271.4(CHD2):c.4511A>G (p.Asn1504Ser)	rs2141881607
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp)	rs45525839
NM_001277.3(CHKA):c.1021T>C (p.Phe341Leu)	rs2134518071
NM_001277.3(CHKA):c.14dup (p.Cys6fs)	rs2153034844
NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg)	rs111033578
NM_001278716.2(FBXL4):c.1555C>T (p.Gln519Ter)	rs398123059
NM_001282531.3(ADNP):c.1540T>G (p.Cys514Gly)	rs2122752568
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter)	rs1135401808
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)	rs886041116
NM_001282531.3(ADNP):c.64dup (p.Ile22fs)	rs1982229334
NM_001282534.2(KCNK9):c.710C>A (p.Ala237Asp)	rs1814677892
NM_001286704.2(UFM1):c.-273_-271del	rs747359907
NM_001287491.2(TET3):c.2552C>T (p.Thr851Met)	rs1573856970
NM_001298.3(CNGA3):c.1708A>G (p.Ser570Gly)	rs2104249895
NM_001303052.2(MYT1L):c.1573C>T (p.Arg525Cys)	rs2149071722
NM_001303052.2(MYT1L):c.1717G>A (p.Gly573Arg)	rs1330054460
NM_001318852.2(MAPK8IP3):c.111C>G (p.Tyr37Ter)	rs770703007
NM_001318852.2(MAPK8IP3):c.1201G>A (p.Gly401Arg)	rs1596711175
NM_001318852.2(MAPK8IP3):c.1334T>C (p.Leu445Pro)	rs1567198751
NM_001318852.2(MAPK8IP3):c.1577G>A (p.Arg526Gln)	rs1596780112
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys)	rs1567203083
NM_001318852.2(MAPK8IP3):c.2985C>G (p.His995Gln)	rs1163583945
NM_001318852.2(MAPK8IP3):c.3439C>T (p.Arg1147Cys)	rs1567214097
NM_001318852.2(MAPK8IP3):c.65del (p.Gly22fs)	rs1567128142
NM_001320.7(CSNK2B):c.560T>G (p.Leu187Arg)	rs1802055133
NM_001321075.3(DLG4):c.1083G>A (p.Ser361=)	rs1227093654
NM_001321075.3(DLG4):c.1084-1G>T	rs2142844164
NM_001321075.3(DLG4):c.1478+2T>C	rs542036630
NM_001321075.3(DLG4):c.1478+4_1478+19del	rs2142830394
NM_001321075.3(DLG4):c.1489C>T (p.Arg497Ter)	rs1567528092
NM_001321075.3(DLG4):c.1543+2T>C	rs1597444614
NM_001321075.3(DLG4):c.1592-1G>A	rs2142825829
NM_001321075.3(DLG4):c.1693+1G>A	rs2142825211
NM_001321075.3(DLG4):c.1832C>T (p.Thr611Ile)	rs2142821651
NM_001321075.3(DLG4):c.1866+2T>C	rs2142821543
NM_001321075.3(DLG4):c.1878C>A (p.Cys626Ter)	rs1451196379
NM_001321075.3(DLG4):c.211-2A>G	rs2142886707
NM_001321075.3(DLG4):c.530G>T (p.Gly177Val)	rs2142884433
NM_001321075.3(DLG4):c.557A>T (p.Asp186Val)	rs2142884288
NM_001321075.3(DLG4):c.787+2T>C	rs2142881946
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter)	rs267608395
NM_001323289.2(CDKL5):c.38T>C (p.Phe13Ser)	rs1922605766
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu)	rs267608501
NM_001323289.2(CDKL5):c.71A>G (p.Tyr24Cys)	rs1922801133
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)	rs587780586
NM_001330260.2(SCN8A):c.2620G>T (p.Ala874Ser)	rs1057524820
NM_001330260.2(SCN8A):c.2675T>G (p.Val892Gly)	rs863225295
NM_001330260.2(SCN8A):c.2706del (p.Glu903fs)	rs2138862858
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr)	rs794727361
NM_001330260.2(SCN8A):c.5620G>C (p.Val1874Leu)	rs781602116
NM_001347721.2(DYRK1A):c.638-1G>T	rs2148612254
NM_001347721.2(DYRK1A):c.638-9_638-5del	rs1555984064
NM_001348716.2(KDM6B):c.1085_1088del (p.Glu362fs)	rs769566928
NM_001349338.3(FOXP1):c.1652+5G>A	rs794727216
NM_001351132.2(PEX5):c.147+77_147+121del
NM_001353345.2(SETD1B):c.22dup (p.His8fs)	rs777278685
NM_001353345.2(SETD1B):c.5107C>T (p.Arg1703Ter)
NM_001356.5(DDX3X):c.959TAG[1] (p.Val321del)	rs1555953527
NM_001360.3(DHCR7):c.964-1G>C	rs138659167
NM_001365902.3(NFIX):c.325G>T (p.Asp109Tyr)	rs2145192459
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs)	rs745420974
NM_001366521.1(ATP2B1):c.458G>A (p.Trp153Ter)	rs2136193860
NM_001368894.2(PAX6):c.141G>T (p.Gln47His)	rs2135147324
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp)	rs797044854
NM_001370259.2(MEN1):c.1185+1G>A	rs1941661315
NM_001370259.2(MEN1):c.784-9G>A	rs794728625
NM_001372044.2(SHANK3):c.3649_3650del (p.Leu1217fs)	rs1555910143
NM_001374828.1(ARID1B):c.2603_2606del (p.Arg868fs)	rs1085307695
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs)	rs1289067120
NM_001374828.1(ARID1B):c.6028del (p.Ala2010fs)	rs1794490994
NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys)	rs1057519519
NM_001375524.1(TRRAP):c.3104G>A (p.Arg1035Gln)	rs2116495143
NM_001375524.1(TRRAP):c.3127G>A (p.Ala1043Thr)	rs1562945106
NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln)	rs397509412
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg)	rs387906738
NM_001377142.1(PLCB4):c.1223T>C (p.Phe408Ser)	rs2148407785
NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter)	rs780843883
NM_001378454.1(ALMS1):c.3337del (p.Glu1113fs)	rs1553403656
NM_001379029.1(CERT1):c.395C>T (p.Ser132Leu)	rs1064794019
NM_001379200.1(TBX1):c.711+1G>A	rs1731409120
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs)	rs777686211
NM_001385012.1(NBEA):c.8596C>T (p.Arg2866Ter)	rs1288199769
NM_001386140.1(MTTP):c.373del (p.Leu125fs)	rs2110212747
NM_001386298.1(CIC):c.2363del (p.Pro788fs)	rs2513612309
NM_001393769.1(MED12L):c.1870C>T (p.Arg624Ter)	rs2149096532
NM_001395656.1(ROBO2):c.292G>T (p.Gly98Trp)	rs2071367863
NM_001399.5(EDA):c.794A>G (p.Asp265Gly)	rs727504750
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter)	rs137853038
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys)	rs587778256
NM_001470.4(GABBR1):c.1190C>T (p.Ala397Val)	rs2483298866
NM_001540.5(HSPB1):c.510del (p.Lys171fs)	rs1803069940
NM_001543.5(NDST1):c.1918T>C (p.Phe640Leu)	rs606231458
NM_001563.4(IMPG1):c.1824+1G>A	rs770887047
NM_001611.5(ACP5):c.602T>C (p.Leu201Pro)	rs387906672
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp)	rs281875328
NM_001614.5(ACTG1):c.94C>T (p.Pro32Ser)	rs1598551290
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn)	rs587777620
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=)	rs367806541
NM_001854.4(COL11A1):c.3816+2dup	rs1469787406
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter)	rs1064796453
NM_001913.5(CUX1):c.61C>T (p.Gln21Ter)	rs1562875556
NM_001927.4(DES):c.735G>C (p.Glu245Asp)	rs267607486
NM_001943.5(DSG2):c.1385del (p.Asn462fs)	rs2510917341
NM_001943.5(DSG2):c.523+1G>T	rs553299589
NM_001958.5(EEF1A2):c.1141C>T (p.Arg381Trp)	rs1568994522
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_002072.5(GNAQ):c.548G>A (p.Arg183Gln)	rs397514698
NM_002074.5(GNB1):c.230G>A (p.Gly77Asp)	rs1135401746
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)	rs869312823
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	rs752746786
NM_002085.5(GPX4):c.502-1del	rs1555716575
NM_002107.7(H3-3A):c.271G>C (p.Gly91Arg)	rs2102737050
NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu)	rs754304255
NM_002232.5(KCNA3):c.1363A>G (p.Ile455Val)	rs2100949783
NM_002334.4(LRP4):c.3472C>T (p.Arg1158Trp)	rs886048351
NM_002335.4(LRP5):c.724G>A (p.Ala242Thr)	rs121908670
NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter)	rs1761818173
NM_002465.4(MYBPC1):c.776T>C (p.Leu259Pro)	rs1421405659
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del)	rs730880147
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	rs397507547
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	rs397507520
NM_002878.4(RAD51D):c.346-1G>C	rs1555568386
NM_002878.4(RAD51D):c.577-6C>A	rs1210749655
NM_002916.5(RFC4):c.824_826del (p.Asp275del)
NM_002941.4(ROBO1):c.2929del (p.Ala977fs)	rs1705825067
NM_002941.4(ROBO1):c.3450C>A (p.Tyr1150Ter)	rs1439248218
NM_002941.4(ROBO1):c.719G>C (p.Cys240Ser)	rs2081940708
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg)	rs1131691302
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg)	rs886042046
NM_003042.4(SLC6A1):c.223G>A (p.Gly75Arg)	rs1064795852
NM_003042.4(SLC6A1):c.279G>A (p.Ala93=)	rs1697221045
NM_003042.4(SLC6A1):c.913G>A (p.Ala305Thr)	rs1391625316
NM_003042.4(SLC6A1):c.919G>A (p.Gly307Arg)	rs1553689696
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys)	rs2086534839
NM_003072.5(SMARCA4):c.1645C>T (p.Arg549Cys)	rs2087030906
NM_003104.6(SORD):c.757del (p.Ala253fs)	rs55901542
NM_003108.4(SOX11):c.347A>G (p.Tyr116Cys)	rs587777479
NM_003119.4(SPG7):c.1450-1_1457del	rs768823392
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys)	rs1553303352
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro)	rs104893813
NM_003458.4(BSN):c.4003C>T (p.Arg1335Ter)
NM_003482.4(KMT2D):c.8401C>T (p.Arg2801Ter)	rs1555191203
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)	rs587780563
NM_003491.4(NAA10):c.347G>A (p.Arg116Gln)	rs2065169655
NM_003491.4(NAA10):c.445C>T (p.Arg149Trp)	rs2065162324
NM_003560.4(PLA2G6):c.319del (p.Leu107fs)	rs776376695
NM_003620.4(PPM1D):c.1270dup (p.Glu424fs)	rs1064797098
NM_003709.4(KLF7):c.410C>T (p.Thr137Met)	rs1276619385
NM_003718.5(CDK13):c.2603G>A (p.Arg868Gln)	rs1786184821
NM_003718.5(CDK13):c.484dup (p.Ala162fs)	rs1405252481
NM_003738.5(PTCH2):c.1296_1305delinsCACCA (p.Val433fs)	rs1573648653
NM_003900.5(SQSTM1):c.711GAA[1] (p.Lys238del)	rs796052214
NM_003982.4(SLC7A7):c.254_255del (p.Phe85fs)	rs386833813
NM_003998.4(NFKB1):c.904dup (p.Ser302fs)	rs773694113
NM_004064.5(CDKN1B):c.-31AG[1]	rs774454456
NM_004085.4(TIMM8A):c.198C>G (p.Cys66Trp)	rs80356560
NM_004113.6(FGF12):c.155G>A (p.Arg52His)	rs886039903
NM_004183.4(BEST1):c.73C>T (p.Arg25Trp)	rs281865214
NM_004208.4(AIFM1):c.720C>T (p.Asp240=)	rs1569418673
NM_004360.5(CDH1):c.1137G>A (p.Thr379=)	rs587783050
NM_004360.5(CDH1):c.1565+1G>A	rs587780113
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr)	rs1596839714
NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg)	rs2051906390
NM_004380.3(CREBBP):c.5600G>A (p.Arg1867Gln)	rs1131691326
NM_004415.4(DSP):c.7097G>A (p.Arg2366His)	rs387906618
NM_004444.5(EPHB4):c.2419G>A (p.Gly807Arg)	rs1330628156
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)	rs749205120
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys)	rs118192251
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys)	rs587777570
NM_004522.3(KIF5C):c.710A>T (p.Glu237Val)	rs587777035
NM_004523.4(KIF11):c.704C>G (p.Ser235Cys)	rs387906643
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter)	rs1384748892
NM_004646.4(NPHS1):c.2442C>G (p.Tyr814Ter)	rs386833913
NM_004656.4(BAP1):c.1554G>T (p.Arg518=)	rs1705043802
NM_004700.4(KCNQ4):c.872C>T (p.Pro291Leu)	rs797044970
NM_004897.5(MINPP1):c.1210C>T (p.Arg404Ter)	rs1311614264
NM_004897.5(MINPP1):c.75_94del (p.Leu27fs)	rs1323094107
NM_004897.5(MINPP1):c.992T>G (p.Ile331Ser)	rs749643952
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys)	rs869312666
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)	rs876657389
NM_004974.4(KCNA2):c.1216G>T (p.Val406Phe)	rs1553181257
NM_004974.4(KCNA2):c.881G>A (p.Arg294His)	rs886041761
NM_004975.4(KCNB1):c.1142G>A (p.Gly381Glu)	rs1569017114
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile)	rs1984243311
NM_004975.4(KCNB1):c.917G>A (p.Arg306His)	rs1984262011
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)	rs886039396
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)	rs587776934
NM_005249.5(FOXG1):c.214C>T (p.Gln72Ter)	rs1555321237
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter)	rs398124202
NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr)	rs786205005
NM_005249.5(FOXG1):c.604C>T (p.Leu202Phe)	rs2502226006
NM_005249.5(FOXG1):c.643T>C (p.Phe215Leu)	rs267606828
NM_005249.5(FOXG1):c.681C>G (p.Asn227Lys)	rs786205012
NM_005249.5(FOXG1):c.700T>C (p.Ser234Pro)	rs786205008
NM_005249.5(FOXG1):c.730C>T (p.Arg244Cys)	rs786205009
NM_005249.5(FOXG1):c.735del (p.Tyr246fs)	rs2138661448
NM_005249.5(FOXG1):c.757A>G (p.Asn253Asp)	rs587783641
NM_005249.5(FOXG1):c.762C>G (p.Tyr254Ter)	rs587783642
NM_005249.5(FOXG1):c.969del (p.Ser323fs)	rs786205011
NM_005324.5(H3-3B):c.52C>T (p.Arg18Cys)	rs2545911172
NM_005444.3(CNOT9):c.680G>A (p.Arg227His)	rs2469475477
NM_005445.4(SMC3):c.2056GAA[2] (p.Glu688del)	rs755507236
NM_005445.4(SMC3):c.3373C>G (p.Leu1125Val)	rs901512521
NM_005465.7(AKT3):c.803T>C (p.Val268Ala)	rs1674673024
NM_005476.7(GNE):c.484C>T (p.Arg162Cys)	rs769215411
NM_005609.4(PYGM):c.1A>G (p.Met1Val)	rs267606993
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu)	rs1557045250
NM_005629.4(SLC6A8):c.945_949del (p.Phe315fs)	rs1603216806
NM_005645.4(TAF13):c.119T>A (p.Met40Lys)	rs1060505029
NM_005654.6(NR2F1):c.292T>C (p.Tyr98His)	rs2149941592
NM_005654.6(NR2F1):c.437G>A (p.Cys146Tyr)	rs1753213218
NM_005660.3(SLC35A2):c.1A>G (p.Met1Val)	rs1042469070
NM_005718.5(ARPC4):c.472C>T (p.Arg158Cys)	rs2125650298
NM_005802.5(TOPORS):c.2550_2553del (p.Asp850fs)	rs1563983151
NM_005859.5(PURA):c.407_420dup (p.Ala142fs)	rs1561793219
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del)	rs779647632
NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp)	rs387906850
NM_005957.5(MTHFR):c.475+1G>T	rs748397580
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn)	rs1553879004
NM_006009.4(TUBA1A):c.1168C>T (p.Arg390Cys)	rs1064793286
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)	rs543698823
NM_006133.3(DAGLA):c.2613dup (p.Ser872fs)	rs1275424656
NM_006178.4(NSF):c.1600A>G (p.Thr534Ala)
NM_006180.6(NTRK2):c.1651C>T (p.Arg551Ter)	rs2132718410
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)	rs104886003
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	rs121913279
NM_006236.3(POU3F3):c.1220G>T (p.Arg407Leu)	rs1573320988
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)	rs863225082
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys)	rs863225079
NM_006261.5(PROP1):c.301_302del (p.Leu102fs)	rs193922688
NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter)	rs2075652085
NM_006412.4(AGPAT2):c.685G>T (p.Glu229Ter)	rs1255380257
NM_006421.5(ARFGEF1):c.2392G>A (p.Asp798Asn)	rs1840520188
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp)	rs202060209
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)	rs80359818
NM_006516.4(SLC2A1):c.505_507del (p.Leu169del)	rs80359832
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)	rs80359825
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter)	rs886037963
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln)	rs1567610917
NM_006565.4(CTCF):c.1024C>T (p.Arg342Cys)	rs1131691283
NM_006565.4(CTCF):c.1133C>T (p.Pro378Leu)	rs2142847512
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp)	rs879255516
NM_006565.4(CTCF):c.2139C>A (p.Asn713Lys)	rs146712579
NM_006651.4(CPLX1):c.315C>A (p.Cys105Ter)	rs1553851860
NM_006662.3(SRCAP):c.6985C>T (p.Arg2329Ter)	rs1555465891
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys)	rs747430075
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln)	rs370638947
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter)	rs1060503383
NM_006772.3(SYNGAP1):c.3583-6G>A	rs869312674
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter)	rs1057518352
NM_006772.3(SYNGAP1):c.670A>G (p.Thr224Ala)	rs1777305165
NM_006852.6(TLK2):c.1121+1G>A	rs2146617330
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)	rs1057518801
NM_006922.4(SCN3A):c.3998C>T (p.Pro1333Leu)	rs1057520753
NM_006922.4(SCN3A):c.5306T>C (p.Val1769Ala)	rs1553517274
NM_006941.4(SOX10):c.404G>A (p.Ser135Asn)	rs74315515
NM_007059.4(KPTN):c.714_731dup (p.Gln246_Asp247insMetTrpSerValLeuGln)	rs587777148
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)	rs1554065887
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln)	rs879255626
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser)	rs1747669042
NM_007118.4(TRIO):c.6153+1G>A	rs1755124330
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)	rs371418985
NM_007194.4(CHEK2):c.1461+5G>A	rs769841229
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)	rs200432447
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])	rs587780181
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)	rs587782008
NM_007194.4(CHEK2):c.846+4_846+7del	rs764884641
NM_007289.4(MME):c.467del (p.Pro156fs)	rs749320057
NM_007294.4(BRCA1):c.118G>A (p.Asp40Asn)	rs879255290
NM_007294.4(BRCA1):c.1884T>G (p.Ser628Arg)	rs80357495
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg)	rs80357064
NM_007294.4(BRCA1):c.3415AGT[1] (p.Ser1140del)	rs80358337
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)	rs80357868
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)	rs80357508
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)	rs80357260
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)	rs80358343
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter)	rs397509283
NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser)	rs398122702
NM_007327.4(GRIN1):c.1913G>C (p.Gly638Ala)	rs1393555703
NM_007327.4(GRIN1):c.1976G>A (p.Arg659Gln)	rs2131299400
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del)	rs1553154062
NM_012308.3(KDM2A):c.1772T>C (p.Met591Thr)
NM_012428.4(NPTN):c.14C>A (p.Ser5Ter)	rs1449689929
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys)	rs1554616628
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs)	rs886039734
NM_013275.6(ANKRD11):c.3787_3788del (p.Glu1263fs)	rs2151753260
NM_013275.6(ANKRD11):c.4396_4397del (p.Arg1466fs)	rs2151750068
NM_013275.6(ANKRD11):c.7618C>T (p.Arg2540Trp)	rs1555523386
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)	rs1057523157
NM_014168.4(METTL5):c.571_572del (p.Lys191fs)	rs1573965358
NM_014225.6(PPP2R1A):c.275C>T (p.Pro92Leu)	rs950558629
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp)	rs786205227
NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln)	rs1057519947
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu)	rs1555791268
NM_014362.4(HIBCH):c.1128dup (p.Lys377Ter)	rs863225062
NM_014491.4(FOXP2):c.1658G>A (p.Arg553His)	rs121908377
NM_014516.4(CNOT3):c.286C>T (p.Arg96Ter)
NM_014516.4(CNOT3):c.520G>A (p.Glu174Lys)	rs1238165628
NM_014516.4(CNOT3):c.563G>A (p.Arg188His)	rs2146595244
NM_014727.3(KMT2B):c.1690C>T (p.Arg564Ter)	rs1057519283
NM_014844.5(TECPR2):c.1028_1032del (p.Lys343fs)	rs1359602238
NM_014844.5(TECPR2):c.2829del (p.Asn944fs)	rs1889895576
NM_014844.5(TECPR2):c.2998G>T (p.Asp1000Tyr)	rs1889962674
NM_014844.5(TECPR2):c.3830del (p.Asn1277fs)	rs1891300695
NM_014844.5(TECPR2):c.4103G>A (p.Trp1368Ter)	rs1891340555
NM_014844.5(TECPR2):c.566C>T (p.Thr189Ile)	rs1888974156
NM_014844.5(TECPR2):c.571C>T (p.Gln191Ter)	rs1888974364
NM_014844.5(TECPR2):c.774del (p.Asp259fs)	rs772483312
NM_014946.4(SPAST):c.1437_1438del (p.Arg479fs)	rs864622268
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)	rs878854991
NM_014975.3(MAST1):c.580GAG[1] (p.Glu195del)	rs1568408280
NM_014991.6(WDFY3):c.8467C>T (p.Arg2823Trp)	rs1131692269
NM_014991.6(WDFY3):c.8864_8867dup (p.Phe2957fs)	rs878853167
NM_015021.3(ZNF292):c.265C>T (p.Arg89Ter)	rs865909396
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs)	rs1301328139
NM_015030.2(FRYL):c.1224del (p.Lys409fs)	rs2478959250
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup)	rs572772837
NM_015076.5(CDK19):c.594G>C (p.Trp198Cys)	rs1779473213
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter)	rs1553212545
NM_015107.3(PHF8):c.1731-1G>C
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg)	rs281875317
NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys)	rs1563292586
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp)	rs1554504681
NM_015215.4(CAMTA1):c.4744C>T (p.Arg1582Ter)	rs2150160606
NM_015275.3(WASHC4):c.3041A>G (p.Tyr1014Cys)	rs768574664
NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs)	rs766433101
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs)	rs750318549
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter)	rs1562957809
NM_016120.4(RLIM):c.1093C>T (p.Arg365Cys)	rs1569309816
NM_016148.5(SHANK1):c.2206C>T (p.Arg736Ter)	rs866837836
NM_016180.5(SLC45A2):c.1166_1167del (p.Lys389fs)	rs896495198
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg)	rs1131692228
NM_016333.4(SRRM2):c.7748_7758del (p.Thr2583fs)	rs2505618143
NM_016359.5(NUSAP1):c.1213C>T (p.Gln405Ter)
NM_016373.4(WWOX):c.716T>G (p.Leu239Arg)	rs2083042603
NM_016529.6(ATP8A2):c.1268A>T (p.Lys423Ile)
NM_016628.5(WAC):c.381+4_381+7del	rs1564400647
NM_016648.4(LARP7):c.1091_1094del (p.Lys364fs)	rs775657157
NM_017534.6(MYH2):c.5630T>C (p.Leu1877Pro)	rs2142289928
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro)	rs267606962
NM_017780.4(CHD7):c.2572C>T (p.Arg858Ter)	rs1563625351
NM_017934.7(PHIP):c.328C>T (p.Arg110Cys)	rs768324201
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)	rs542489955
NM_018129.4(PNPO):c.283C>T (p.Arg95Cys)	rs1483600034
NM_018136.5(ASPM):c.9324del (p.Leu3109fs)	rs1163303148
NM_018426.3(TMEM63B):c.130G>A (p.Val44Met)	rs1420636219
NM_018489.3(ASH1L):c.4039_4043del (p.Lys1347fs)
NM_018668.5(VPS33B):c.390_392delinsAGA (p.Gly131Glu)	rs2151674862
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys)	rs121434591
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer)	rs752176040
NM_019109.5(ALG1):c.946G>A (p.Val316Ile)	rs150272167
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)	rs886039763
NM_020184.4(CNNM4):c.1312dup (p.Leu438fs)	rs746879923
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp)	rs387907208
NM_020533.3(MCOLN1):c.1363C>T (p.Arg455Cys)	rs747683527
NM_020533.3(MCOLN1):c.878-2A>G
NM_020706.2(SCAF4):c.1471C>T (p.Arg491Ter)	rs2516760777
NM_020791.4(TAOK1):c.136C>T (p.Arg46Ter)	rs2030687889
NM_020791.4(TAOK1):c.1414C>T (p.Arg472Ter)	rs2508268872
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)	rs397515407
NM_020822.3(KCNT1):c.1420C>A (p.Arg474Ser)	rs866242631
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)	rs397515404
NM_020822.3(KCNT1):c.1546A>G (p.Met516Val)	rs886041691
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His)	rs200694691
NM_021008.4(DEAF1):c.670C>T (p.Arg224Trp)	rs587777408
NM_021625.5(TRPV4):c.710G>A (p.Arg237Gln)	rs1289139464
NM_022132.5(MCCC2):c.1216+2T>A	rs1554138265
NM_022370.4(ROBO3):c.1082G>A (p.Gly361Glu)	rs121918270
NM_022370.4(ROBO3):c.14T>C (p.Leu5Pro)	rs121918275
NM_022370.4(ROBO3):c.196A>C (p.Ile66Leu)	rs121918276
NM_022370.4(ROBO3):c.2108G>C (p.Arg703Pro)	rs121918271
NM_022370.4(ROBO3):c.2113T>C (p.Ser705Pro)	rs121918272
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln)	rs587784200
NM_024298.5(MBOAT7):c.259C>T (p.Arg87Ter)	rs2076453599
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)	rs180177143
NM_024675.4(PALB2):c.212-2A>C	rs730881879
NM_024675.4(PALB2):c.2559C>T (p.Gly853=)	rs180177115
NM_024675.4(PALB2):c.2834+1G>A	rs587776419
NM_024675.4(PALB2):c.3362del (p.Gly1121fs)	rs515726117
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)	rs587776428
NM_024675.4(PALB2):c.72del (p.Arg26fs)	rs180177142
NM_024757.5(EHMT1):c.2333A>C (p.His778Pro)
NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter)	rs121918301
NM_024757.5(EHMT1):c.736C>T (p.Arg246Ter)	rs1474604202
NM_024757.5(EHMT1):c.756dup (p.Phe253fs)	rs1554852664
NM_024989.4(PGAP1):c.586CTT[1] (p.Leu197del)	rs587777378
NM_025000.4(DCAF17):c.127-1G>C	rs2529610539
NM_030632.3(ASXL3):c.4462_4465del (p.Thr1488fs)	rs1599574018
NM_030787.4(CFHR5):c.485_486dup (p.Glu163fs)	rs565457964
NM_031372.4(HNRNPDL):c.1132G>C (p.Asp378His)	rs587777669
NM_031407.7(HUWE1):c.8942G>A (p.Arg2981His)	rs121918526
NM_032043.3(BRIP1):c.2467del (p.Arg823fs)	rs2544696416
NM_032108.4(SEMA6B):c.1991del (p.Gly664fs)	rs1443687532
NM_032228.6(FAR1):c.495_507delinsT (p.Glu165_Pro169delinsAsp)	rs727502796
NM_032492.4(JAGN1):c.40G>A (p.Gly14Ser)	rs786205704
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs)	rs794727197
NM_033310.3(KCNK4):c.698C>T (p.Pro233Leu)	rs2034823903
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser)	rs104886228
NM_057175.5(NAA15):c.1645C>T (p.Arg549Ter)	rs1179904078
NM_057175.5(NAA15):c.2344C>T (p.Arg782Ter)	rs1270628305
NM_058216.3(RAD51C):c.1026+5_1026+7del	rs587781410
NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg)	rs1816336903
NM_078480.3(PUF60):c.612_630del (p.Asn207fs)	rs1816565452
NM_078629.4(MSL3):c.547C>T (p.Gln183Ter)	rs2518420699
NM_130468.4(CHST14):c.145del (p.Ala48_Val49insTer)	rs397518432
NM_130811.4(SNAP25):c.197A>C (p.Gln66Pro)	rs2064035939
NM_130837.3(OPA1):c.1935+1G>C	rs1711518217
NM_130837.3(OPA1):c.2873_2876del	rs80356530
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln)	rs80358380
NM_138425.4(C12orf57):c.184C>T (p.Gln62Ter)	rs587777698
NM_138615.3(DHX30):c.2353C>T (p.Arg785Cys)	rs1085307451
NM_138927.4(SON):c.3334C>T (p.Arg1112Ter)	rs1064796472
NM_138927.4(SON):c.4897_4900del (p.Thr1633fs)
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)	rs886039773
NM_139276.3(STAT3):c.1110-3C>G
NM_139276.3(STAT3):c.1852G>C (p.Gly618Arg)	rs2081548277
NM_139276.3(STAT3):c.1970A>G (p.Tyr657Cys)	rs193922721
NM_144773.4(PROKR2):c.254G>A (p.Arg85His)	rs74315418
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del)	rs796052243
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)	rs587778771
NM_152269.5(MTRFR):c.248del (p.Val83fs)	rs587776508
NM_152269.5(MTRFR):c.415C>T (p.Gln139Ter)	rs398122365
NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp)	rs370717845
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs)	rs1161589003
NM_152564.5(VPS13B):c.5438_5452del (p.Asp1813_Thr1817del)	rs1057519183
NM_152564.5(VPS13B):c.5908+2dup	rs587777381
NM_152564.5(VPS13B):c.8243C>T (p.Ser2748Leu)	rs180177370
NM_153689.6(C2orf69):c.298del (p.Gln100fs)	rs2077262520
NM_153717.3(EVC):c.801+1G>T	rs1447653524
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)	rs773171451
NM_172362.3(KCNH1):c.1069C>T (p.Arg357Trp)	rs2102561827
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln)	rs886041300
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu)	rs778849441
NM_177550.5(SLC13A5):c.369-2A>G	rs1973796030
NM_177559.3(CSNK2A1):c.139C>T (p.Arg47Ter)
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)	rs869312840
NM_178014.4(TUBB):c.895A>G (p.Met299Val)	rs587777355
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg)	rs145844329
NM_181078.3(IL21R):c.563del (p.Leu188fs)	rs2087444941
NM_181523.3(PIK3R1):c.1892G>A (p.Arg631Gln)	rs515726149
NM_181552.4(CUX1):c.2365del (p.Gln789fs)	rs1554519798
NM_181552.4(CUX1):c.2584C>T (p.Gln862Ter)	rs1563398977
NM_181552.4(CUX1):c.3164dup (p.Ala1056fs)	rs1563446668
NM_181552.4(CUX1):c.3750_3751dup (p.Leu1251fs)	rs1563470335
NM_181552.4(CUX1):c.762G>C (p.Arg254Ser)	rs2131685158
NM_181783.4(TMTC3):c.199C>G (p.His67Asp)	rs754200057
NM_181789.4(GLDN):c.1423G>C (p.Ala475Pro)	rs764239923
NM_182925.5(FLT4):c.952C>T (p.Arg318Ter)	rs146006663
NM_182931.3(KMT2E):c.3554C>G (p.Ser1185Ter)	rs186916831
NM_183065.4(TMEM107):c.*751C>T	rs117595965
NM_183065.4(TMEM107):c.*760G>T	rs116395281
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp)	rs864309483
NM_194454.3(KRIT1):c.410A>G (p.Asp137Gly)	rs137853139
NM_198503.5(KCNT2):c.569G>A (p.Arg190His)	rs1572547466
NM_198514.4(NHLRC2):c.1A>G (p.Met1Val)	rs2134678958
NM_198880.3(QRICH1):c.2207G>A (p.Ser736Asn)	rs2093229974
NM_198880.3(QRICH1):c.2216G>A (p.Trp739Ter)	rs2106802170
NM_198880.3(QRICH1):c.851C>T (p.Pro284Leu)	rs2093408453
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter)	rs1045493304
NM_199342.4(SVBP):c.82C>T (p.Gln28Ter)	rs1570520175
NM_201525.4(ADGRG1):c.1952G>A (p.Trp651Ter)	rs587783657
NM_205861.3(DHDDS):c.110G>A (p.Arg37His)	rs1553121073
NM_206926.2(SELENON):c.1285+1G>A	rs2047977957
NM_206926.2(SELENON):c.1344del (p.Asn449fs)	rs2124454648
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)	rs769838859
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter)	rs1553250952
NM_206933.4(USH2A):c.993_994del (p.Arg331fs)	rs1571703801
Single allele
UGT1A1*28	rs3064744