ClinVar Miner

Variants from Neuberg Centre For Genomic Medicine, NCGM with conflicting interpretations

Location: India  Primary collection method: clinical testing
Minimum review status of the submission from Neuberg Centre For Genomic Medicine, NCGM: Collection method of the submission from Neuberg Centre For Genomic Medicine, NCGM:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

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

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
2407 670 5 407 33 6 177 570

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
Neuberg Centre For Genomic Medicine, NCGM pathogenic likely pathogenic uncertain significance likely benign benign affects association established risk allele likely risk allele risk factor
pathogenic 5 207 36 4 0 1 0 0 0 2
likely pathogenic 200 0 50 1 1 0 1 1 1 1
uncertain significance 41 61 0 24 9 1 0 0 0 1
likely benign 0 0 1 0 0 0 0 0 0 0
benign 1 0 1 0 0 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 190
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
Invitae 0 362 0 88 19 1 43 151
Counsyl 0 95 0 62 0 0 21 83
Baylor Genetics 0 196 0 42 0 0 17 59
OMIM 0 240 0 38 1 3 11 53
Revvity Omics, Revvity 0 125 0 31 0 0 13 44
Genome-Nilou Lab 0 96 0 25 1 0 11 37
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 33 0 19 0 0 13 32
Fulgent Genetics, Fulgent Genetics 0 106 0 26 0 0 4 30
Illumina Laboratory Services, Illumina 0 79 0 9 7 0 11 27
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 126 0 24 0 0 0 24
Natera, Inc. 0 107 0 20 0 0 4 24
Mendelics 0 43 0 14 0 0 9 23
Myriad Genetics, Inc. 0 45 0 18 2 0 3 23
3billion 0 95 0 15 0 0 8 23
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 42 0 11 0 0 8 19
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 36 0 12 0 0 6 18
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 63 0 12 0 0 5 17
Institute of Human Genetics, University of Leipzig Medical Center 0 52 0 12 0 1 2 15
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 18 0 6 0 0 4 10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 25 0 8 0 1 0 9
SIB Swiss Institute of Bioinformatics 0 4 0 8 0 0 1 9
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 39 0 6 0 0 2 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 23 0 6 0 0 2 8
Genetics and Molecular Pathology, SA Pathology 0 20 0 4 0 0 4 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 28 0 7 0 0 1 8
Ambry Genetics 0 18 0 3 2 0 2 7
MGZ Medical Genetics Center 0 42 0 6 0 0 1 7
Centogene AG - the Rare Disease Company 0 36 0 6 0 0 1 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 21 0 7 0 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 13 0 4 0 0 3 7
All of Us Research Program, National Institutes of Health 0 27 0 2 4 0 1 7
Genetic Services Laboratory, University of Chicago 0 33 0 6 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 17 0 5 0 0 0 5
GeneReviews 0 95 5 0 0 0 0 5
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 5 0 0 0 5
Undiagnosed Diseases Network, NIH 0 6 0 3 0 0 2 5
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 4 0 2 0 0 3 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 15 0 3 0 0 2 5
Suma Genomics 0 13 0 4 0 0 1 5
Genomics England Pilot Project, Genomics England 0 7 0 3 0 0 2 5
Clinical Biochemistry Laboratory, Health Services Laboratory 0 5 0 3 0 0 1 4
UCLA Clinical Genomics Center, UCLA 0 1 0 4 0 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 0 3 0 3 0 0 1 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 10 0 4 0 0 0 4
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 9 0 1 0 0 3 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 9 0 2 0 0 2 4
Lifecell International Pvt. Ltd 0 32 0 3 0 0 1 4
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 15 0 3 0 1 0 4
Sharing Clinical Reports Project (SCRP) 0 10 0 2 1 0 0 3
Sema4, Sema4 0 4 0 2 1 0 0 3
Centre for Human Genetics 0 2 0 2 0 0 1 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 3 0 0 0 3
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 3 0 3 0 0 0 3
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 4 0 1 0 0 2 3
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 1 1 0 1 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 23 0 1 0 0 2 3
Reproductive Health Research and Development, BGI Genomics 0 4 0 2 0 1 0 3
Arcensus 0 4 0 3 0 0 0 3
BRCAlab, Lund University 0 9 0 2 0 0 1 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 10 0 2 0 0 0 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 18 0 1 0 0 1 2
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 6 0 2 0 0 0 2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 6 0 2 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 0 0 1 0 0 1 2
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 2 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 5 0 1 0 1 0 2
PXE International 0 0 0 1 0 0 1 2
LDLR-LOVD, British Heart Foundation 0 2 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 16 0 2 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 3 0 2 0 0 0 2
Laboratory of Applied Genomics, Kongju National University 0 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 0 0 0 0 2 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 9 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 6 0 1 1 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 12 0 2 0 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 6 0 1 0 0 1 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 5 0 1 0 0 1 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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 10 0 2 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 0 4 0 2 0 0 0 2
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 5 0 2 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 0 1 0 2 0 0 0 2
DASA 0 20 0 2 0 0 0 2
Houlden Lab, UCL Institute of Neurology 0 0 0 1 0 0 1 2
Giacomini Lab, University of California, San Francisco 0 0 0 1 0 0 1 2
Molecular Genetics Diagnostic Laboratory, Detroit Medical Center University Laboratories 0 0 0 1 0 0 0 1
GeneDx 0 1 0 0 0 0 1 1
King Laboratory, University of Washington 0 0 0 0 0 0 1 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 10 0 0 0 0 1 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 3 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 5 0 0 1 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 3 0 1 0 0 0 1
MyeliNeuroGene Lab, McGill University Health Center Research Institute 0 1 0 1 0 0 0 1
Institute of Human Genetics, University of Ulm 0 0 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 1 0 0 0 1
CFTR2 0 12 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 2 0 1 0 0 0 1
Blueprint Genetics 0 3 0 1 0 0 0 1
Breast Cancer Information Core (BIC) (BRCA1) 0 10 0 1 0 0 0 1
RettBASE 0 10 0 1 0 0 0 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 23 0 1 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 1 0 0 0 1
Genologica Medica 0 3 0 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 6 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 1 0 0 0 0 1 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 5 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 7 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 4 0 1 0 0 0 1
Center for Human Genetics, University of Leuven 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 0 1 0 0 0 1
Bioinformatics dept., Datar Cancer Genetics Limited, India 0 1 0 1 0 0 0 1
Department of Ophthalmology, Flinders Medical Centre 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 3 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 0 0 0 1
GenePathDx, GenePath diagnostics 0 2 0 1 0 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 21 0 1 0 0 0 1
Robarts Research Institute, Western University 0 1 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER, AOU Meyer 0 2 0 1 0 0 0 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 1 0 0 0 0 1 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 1 0 1 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 0 1 1
Applied Translational Genetics Group, University of Auckland 0 1 0 0 0 0 1 1
Yale Center for Mendelian Genomics, Yale University 0 4 0 0 0 0 1 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 1 0 0 0 1
Institute of Medical Genetics, University of Zurich 0 0 0 1 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 0 0 0 1 0 0 0 1
Translational Research Program on Neuronal Ceroid Lipofuscinosis, Center for the Study of Inborn Errors of Metabolism 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 6 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades 0 0 0 1 0 0 0 1
Pediatric Genomics Discovery Program, Yale University 0 0 0 1 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 0 1 0 0 0 1
Cancer Diagnostics Division, Gene Solutions 0 0 0 1 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 6 0 1 0 0 0 1
Kids Research, The Children's Hospital at Westmead 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 0 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 19 0 1 0 0 0 1
Inherited Eye Disorders lab, UCL Institute of Ophthalmology 0 0 0 1 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 0 1 0 0 0 0 1 1
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center 0 0 0 0 0 1 0 1
Department of Pediatrics, Gifu University 0 1 0 1 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 2 0 0 0 0 1 1
deCODE genetics, Amgen 0 0 0 1 0 0 0 1
CFTR-France 0 11 0 1 0 0 0 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 0 0 0 0 0 1 1
The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University 0 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 1 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 0 0 0 0 0 1 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 0 2 0 1 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 1 0 0 0 0 1 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 0 0 0 0 1 1
Molecular Genetics laboratory, Necker Hospital 0 0 0 0 0 0 1 1
Laboratory of Genetics in Ophthalmology, Institut Imagine 0 2 0 1 0 0 0 1
Institute of Genomics, University of Tartu 0 0 0 1 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 0 1 0 0 0 1
New York Genome Center 0 13 0 0 0 0 1 1
MAGIC Laboratory, Stellenbosch University 0 0 0 0 0 0 1 1
Ding PR Lab, Sun Yat-sen University Cancer Center 0 1 0 0 0 0 1 1
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen 0 2 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 0 1 0 0 0 1
Zarate Arkansas Children's Genetics Clinic, Arkansas Children's Hospital 0 0 0 0 0 0 1 1
National Institute of Neuroscience, National Center of Neurology and Psychiatry 0 0 0 1 0 0 0 1
Allergy Immunology Laboratory, Postgraduate Institute of Medical Education and Research, Chandigarh 0 0 0 0 0 0 1 1
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 0 0 0 0 1 1
Molecular Genetics, Madras Diabetes Research Foundation 0 0 0 1 0 0 0 1
Pediatrics, All India Institute of Medical Sciences, New Delhi 0 0 0 0 0 0 1 1
Bioinformatics Unit, Institut Pasteur de Montevideo 0 1 0 1 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 0 0 0 0 0 0 1 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 2 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 3 0 1 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 9 0 0 0 0 1 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 1 0 0 0 0 1 1
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP 0 1 0 1 0 0 0 1
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 0 1 0 0 0 0 1 1
Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University 0 0 0 1 0 0 0 1
Molecular Lab, Department of Haematology, Christian Medical College 0 0 0 1 0 0 0 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 0 1 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 0 1 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 0 0 0 0 1 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 6 0 1 0 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 1 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 1 0 1 0 0 0 1
UAEU Genomics Laboratory, United Arab Emirates University 0 0 0 0 0 0 1 1
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 0 0 0 1 0 0 0 1
Narges Medical Genetic and Prenatal Diagnosis Lab 0 0 0 1 0 0 0 1
Medical Genetics Laboratory, Etlik City Hospital 0 0 0 1 0 0 0 1
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 570
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_012084.4(GLUD2):c.1492T>G (p.Ser498Ala) rs9697983 0.03160
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634 0.00927
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_006610.4(MASP2):c.467G>A (p.Cys156Tyr) rs41307788 0.00558
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_018384.5(GIMAP5):c.611T>C (p.Leu204Pro) rs72650695 0.00189
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_016729.3(FOLR1):c.493+2T>C rs144637717 0.00134
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) rs547116063 0.00131
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter) rs138994150 0.00103
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160 0.00099
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter) rs145360423 0.00054
NM_000392.5(ABCC2):c.3196C>T (p.Arg1066Ter) rs72558199 0.00053
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_001377304.1(GFI1B):c.503G>T (p.Cys168Phe) rs527297896 0.00049
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_001171.6(ABCC6):c.1703T>C (p.Phe568Ser) rs66864704 0.00036
NM_000055.4(BCHE):c.428G>A (p.Gly143Asp) rs201820739 0.00035
NM_139281.3(WDR36):c.896A>G (p.Asn299Ser) rs118204022 0.00034
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_004482.4(GALNT3):c.16C>T (p.Arg6Ter) rs376963628 0.00029
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn) rs148993589 0.00026
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser) rs201842633 0.00025
NM_005475.3(SH2B3):c.1183G>A (p.Glu395Lys) rs148636776 0.00025
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NM_007272.3(CTRC):c.703G>A (p.Val235Ile) rs140993290 0.00024
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) rs137852988 0.00022
NM_024339.5(THOC6):c.298T>A (p.Trp100Arg) rs138632121 0.00020
NM_024339.5(THOC6):c.824G>A (p.Gly275Asp) rs200426926 0.00020
NM_024678.6(NARS2):c.1253G>A (p.Arg418His) rs535877562 0.00020
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp) rs34993780 0.00016
NM_005529.7(HSPG2):c.7438C>T (p.Arg2480Trp) rs143437991 0.00016
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val) rs121909021 0.00015
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00014
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_000293.3(PHKB):c.1127-2A>G rs535749057 0.00012
NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu) rs587783156 0.00012
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907 0.00011
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) rs767890671 0.00011
NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met) rs368545738 0.00010
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp) rs397508276 0.00010
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_001298.3(CNGA3):c.485A>T (p.Asp162Val) rs747447519 0.00010
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp) rs267607052 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716 0.00009
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949 0.00009
NM_004260.4(RECQL4):c.1485C>T (p.Gly495=) rs773682937 0.00009
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys) rs28940872 0.00008
NM_000033.4(ABCD1):c.821G>A (p.Arg274Gln) rs781874815 0.00008
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val) rs373901523 0.00008
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr) rs202127474 0.00007
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly) rs63750809 0.00007
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser) rs768849283 0.00007
NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys) rs758746181 0.00007
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr) rs201212806 0.00006
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr) rs142988897 0.00006
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_014026.6(DCPS):c.947C>T (p.Thr316Met) rs137941190 0.00006
NM_021957.4(GYS2):c.116A>G (p.Asn39Ser) rs121918423 0.00006
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys) rs201408725 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly) rs543697946 0.00006
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239 0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096 0.00005
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter) rs121918164 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser) rs587783318 0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879 0.00004
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350 0.00004
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) rs61751277 0.00004
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg) rs199473260 0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly) rs397508818 0.00004
NM_001098816.3(TENM4):c.3412G>A (p.Val1138Met) rs538881762 0.00004
NM_001171.6(ABCC6):c.3340C>T (p.Arg1114Cys) rs63749794 0.00004
NM_001876.4(CPT1A):c.145G>A (p.Gly49Ser) rs552007692 0.00004
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838 0.00004
NM_002772.3(TMPRSS15):c.1350dup (p.Val451fs) rs765937590 0.00004
NM_005276.4(GPD1):c.398C>T (p.Ser133Leu) rs184522376 0.00004
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp) rs121908484 0.00004
NM_015937.6(PIGT):c.1342C>T (p.Arg448Trp) rs527236031 0.00004
NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro) rs201088736 0.00004
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe) rs200320892 0.00004
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met) rs145873635 0.00004
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621 0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) rs768814872 0.00003
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942 0.00003
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415 0.00003
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp) rs770485731 0.00003
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626 0.00003
NM_000254.3(MTR):c.2404C>T (p.Arg802Ter) rs138695265 0.00003
NM_000342.4(SLC4A1):c.713A>T (p.Glu238Val) rs571740084 0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter) rs747349942 0.00003
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042 0.00003
NM_001041.4(SI):c.2401G>T (p.Glu801Ter) rs200972419 0.00003
NM_001080442.3(SLC38A8):c.264C>G (p.Tyr88Ter) rs761388176 0.00003
NM_001206744.2(TPO):c.2578G>A (p.Gly860Arg) rs556552435 0.00003
NM_001374385.1(ATP8B1):c.2674G>A (p.Gly892Arg) rs121909098 0.00003
NM_001384474.1(LOXHD1):c.71del (p.Leu24fs) rs775267638 0.00003
NM_005984.5(SLC25A1):c.844C>T (p.Arg282Cys) rs431905509 0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549 0.00003
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295 0.00003
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs) rs951347128 0.00003
NM_138425.4(C12orf57):c.1A>G (p.Met1Val) rs587776954 0.00003
NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp) rs118203979 0.00003
NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr) rs201732170 0.00003
NM_172201.2(KCNE2):c.347C>T (p.Ala116Val) rs199473367 0.00003
NM_000016.6(ACADM):c.984del (p.Met328fs) rs747610156 0.00002
NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr) rs119450943 0.00002
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu) rs121908522 0.00002
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu) rs180177253 0.00002
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300 0.00002
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000124.4(ERCC6):c.4063-1G>C rs766980240 0.00002
NM_000128.4(F11):c.325G>A (p.Ala109Thr) rs768474112 0.00002
NM_000132.4(F8):c.1748A>G (p.Asn583Ser) rs782657516 0.00002
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp) rs779315456 0.00002
NM_000212.3(ITGB3):c.428T>G (p.Leu143Trp) rs121918452 0.00002
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe) rs762412447 0.00002
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) rs140630532 0.00002
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059 0.00002
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) rs121908753 0.00002
NM_000512.5(GALNS):c.938C>T (p.Thr313Met) rs894525161 0.00002
NM_001032386.2(SUOX):c.796G>A (p.Gly266Ser) rs144064367 0.00002
NM_001253852.3(AP4B1):c.617G>A (p.Arg206Gln) rs149705131 0.00002
NM_001458.5(FLNC):c.4636G>A (p.Gly1546Ser) rs774263134 0.00002
NM_002878.4(RAD51D):c.363del (p.Ala122fs) rs730881935 0.00002
NM_004646.4(NPHS1):c.2600G>A (p.Gly867Asp) rs753656470 0.00002
NM_012203.2(GRHPR):c.735-1G>A rs180177317 0.00002
NM_014874.4(MFN2):c.334G>A (p.Val112Met) rs757937208 0.00002
NM_017671.5(FERMT1):c.1718+2T>C rs760256639 0.00002
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val) rs121917882 0.00002
NM_058216.3(RAD51C):c.746G>A (p.Arg249His) rs730881925 0.00002
NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter) rs758304537 0.00002
NM_176869.3(PPA2):c.500C>T (p.Pro167Leu) rs546693824 0.00002
NM_181705.4(LYRM7):c.2T>C (p.Met1Thr) rs531275086 0.00002
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu) rs750043368 0.00001
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr) rs759692350 0.00001
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809 0.00001
NM_000048.4(ASL):c.978G>C (p.Gln326His) rs764356037 0.00001
NM_000049.4(ASPA):c.503G>A (p.Arg168His) rs770706390 0.00001
NM_000049.4(ASPA):c.634+1G>T rs753871454 0.00001
NM_000051.4(ATM):c.3820C>T (p.Gln1274Ter) rs1453429915 0.00001
NM_000051.4(ATM):c.6347+1G>A rs1057517120 0.00001
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp) rs1394999756 0.00001
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) rs751710854 0.00001
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) rs786204547 0.00001
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys) rs80358684 0.00001
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly) rs750083132 0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583 0.00001
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg) rs28941476 0.00001
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980 0.00001
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter) rs372163487 0.00001
NM_000136.3(FANCC):c.1533+1G>C rs753885687 0.00001
NM_000137.4(FAH):c.192G>T (p.Gln64His) rs80338894 0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720 0.00001
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952 0.00001
NM_000199.5(SGSH):c.416C>T (p.Thr139Met) rs775112689 0.00001
NM_000199.5(SGSH):c.545G>A (p.Arg182His) rs372911015 0.00001
NM_000232.5(SGCB):c.1A>G (p.Met1Val) rs398123262 0.00001
NM_000232.5(SGCB):c.265G>A (p.Val89Met) rs762652676 0.00001
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro) rs751427686 0.00001
NM_000232.5(SGCB):c.621+1G>T rs1264362642 0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000262.3(NAGA):c.443G>A (p.Trp148Ter) rs781137026 0.00001
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596 0.00001
NM_000271.5(NPC1):c.302T>G (p.Phe101Cys) rs548191894 0.00001
NM_000294.3(PHKG2):c.958C>T (p.Arg320Ter) rs560414449 0.00001
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=) rs1032781250 0.00001
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 0.00001
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg) rs761749884 0.00001
NM_000359.3(TGM1):c.1186C>T (p.Arg396Cys) rs543521135 0.00001
NM_000359.3(TGM1):c.379C>T (p.Arg127Ter) rs886041250 0.00001
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser) rs121918732 0.00001
NM_000392.5(ABCC2):c.2362_2363del (p.Leu788fs) rs772673105 0.00001
NM_000396.4(CTSK):c.136C>T (p.Arg46Trp) rs371277428 0.00001
NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys) rs543277216 0.00001
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys) rs74315470 0.00001
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln) rs199476382 0.00001
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys) rs121909008 0.00001
NM_000497.4(CYP11B1):c.427C>T (p.Arg143Trp) rs140336749 0.00001
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg) rs1478665723 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala) rs796052024 0.00001
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) rs121912655 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys) rs775685508 0.00001
NM_001005373.4(LRSAM1):c.1279C>T (p.Arg427Ter) rs138226428 0.00001
NM_001005373.4(LRSAM1):c.284C>T (p.Ala95Val) rs570248730 0.00001
NM_001031710.3(KLHL7):c.976C>T (p.Arg326Ter) rs77078070 0.00001
NM_001042432.2(CLN3):c.837+5G>A rs756848924 0.00001
NM_001042681.2(RERE):c.3466G>A (p.Gly1156Arg) rs766951273 0.00001
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln) rs199422117 0.00001
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter) rs886037961 0.00001
NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu) rs906284769 0.00001
NM_001165963.4(SCN1A):c.1193C>T (p.Thr398Met) rs774937055 0.00001
NM_001244710.2(GFPT1):c.332G>A (p.Arg111His) rs189717232 0.00001
NM_001358263.1(HK1):c.19C>T (p.Arg7Ter) rs779250530 0.00001
NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys) rs751603831 0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232 0.00001
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser) rs397514383 0.00001
NM_001371596.2(MFSD8):c.416G>A (p.Arg139His) rs749704755 0.00001
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter) rs386833763 0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) rs730881864 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002936.6(RNASEH1):c.424G>A (p.Val142Ile) rs766294940 0.00001
NM_003119.4(SPG7):c.415C>T (p.Arg139Ter) rs370777371 0.00001
NM_003560.4(PLA2G6):c.2249G>A (p.Cys750Tyr) rs751225193 0.00001
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys) rs772294884 0.00001
NM_003846.3(PEX11B):c.1A>G (p.Met1Val) rs782262926 0.00001
NM_004006.3(DMD):c.2472C>G (p.Asn824Lys) rs778811645 0.00001
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865 0.00001
NM_004975.4(KCNB1):c.1963G>A (p.Glu655Lys) rs769948178 0.00001
NM_005476.7(GNE):c.893T>C (p.Ile298Thr) rs757091387 0.00001
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys) rs780978419 0.00001
NM_006759.4(UGP2):c.34A>G (p.Met12Val) rs768305634 0.00001
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter) rs753621591 0.00001
NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys) rs150966634 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys) rs563710728 0.00001
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter) rs559590419 0.00001
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu) rs142500730 0.00001
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys) rs386834130 0.00001
NM_020365.5(EIF2B3):c.89T>C (p.Val30Ala) rs752636698 0.00001
NM_020631.6(PLEKHG5):c.1132-2A>C rs1557742277 0.00001
NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln) rs28939081 0.00001
NM_020964.3(EPG5):c.895C>T (p.Arg299Ter) rs767638289 0.00001
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter) rs727504010 0.00001
NM_022436.3(ABCG5):c.1222C>T (p.Arg408Ter) rs119479065 0.00001
NM_022787.4(NMNAT1):c.709C>T (p.Arg237Cys) rs375110174 0.00001
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462 0.00001
NM_024757.5(EHMT1):c.376A>G (p.Ile126Val) rs773781896 0.00001
NM_025150.5(TARS2):c.1036C>T (p.Arg346Cys) rs749476185 0.00001
NM_031471.6(FERMT3):c.1717C>T (p.Arg573Ter) rs121918297 0.00001
NM_031885.5(BBS2):c.471G>A (p.Thr157=) rs749983428 0.00001
NM_032193.4(RNASEH2C):c.227C>T (p.Pro76Leu) rs76091978 0.00001
NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln) rs771937610 0.00001
NM_152416.4(NDUFAF6):c.337C>T (p.Arg113Ter) rs753873681 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089 0.00001
NM_152906.7(TANGO2):c.460G>A (p.Gly154Arg) rs752298579 0.00001
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555 0.00001
NM_176787.5(PIGN):c.1434+5G>A rs369486176 0.00001
NM_178172.6(GPIHBP1):c.320C>G (p.Ser107Cys) rs587777643 0.00001
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp) rs398124571 0.00001
NM_199242.3(UNC13D):c.1727+1G>A rs754882266 0.00001
NM_201525.4(ADGRG1):c.286C>T (p.Arg96Ter) rs146278035 0.00001
NM_203290.4(POLR1C):c.785T>C (p.Ile262Thr) rs751006626 0.00001
NM_000016.6(ACADM):c.946-6T>G rs765793260
NM_000019.4(ACAT1):c.578T>C (p.Met193Thr) rs541517496
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) rs180177156
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) rs180177195
NM_000030.3(AGXT):c.33del (p.Lys12fs) rs180177201
NM_000033.4(ABCD1):c.102del (p.Leu35fs) rs2148388645
NM_000033.4(ABCD1):c.931C>T (p.Gln311Ter) rs941503814
NM_000037.4(ANK1):c.2394_2397del (p.Ser799fs) rs2150605978
NM_000038.6(APC):c.2054G>A (p.Trp685Ter) rs2149859555
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000051.4(ATM):c.2250+1G>A rs1565395193
NM_000051.4(ATM):c.5178-2A>G rs2135911500
NM_000051.4(ATM):c.742C>G (p.Arg248Gly)
NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp) rs587780639
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter) rs1060504292
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000053.4(ATP7B):c.1172del (p.Ser391fs)
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer) rs1057516893
NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr) rs72552285
NM_000053.4(ATP7B):c.1963del (p.Leu655fs) rs2139612433
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.254G>C (p.Gly85Ala)
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg) rs786204483
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe) rs749472361
NM_000055.4(BCHE):c.1004T>C (p.Leu335Pro) rs104893684
NM_000059.4(BRCA2):c.10082A>C (p.Gln3361Pro) rs751250810
NM_000059.4(BRCA2):c.3569G>A (p.Arg1190Gln) rs80358605
NM_000059.4(BRCA2):c.5411T>C (p.Val1804Ala) rs370252983
NM_000070.3(CAPN3):c.1298_1299del (p.Val433fs) rs1293496023
NM_000071.3(CBS):c.262C>G (p.Pro88Ala)
NM_000071.3(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000081.4(LYST):c.5719A>G (p.Ile1907Val)
NM_000088.4(COL1A1):c.590G>T (p.Gly197Val) rs72667028
NM_000088.4(COL1A1):c.859G>A (p.Gly287Ser) rs72645340
NM_000092.5(COL4A4):c.736-13dup rs750699545
NM_000094.4(COL7A1):c.6022C>T (p.Arg2008Cys) rs1055680335
NM_000094.4(COL7A1):c.682+5G>A rs767647070
NM_000095.3(COMP):c.2152C>T (p.Arg718Trp) rs28936368
NM_000100.4(CSTB):c.64C>T (p.Gln22Ter) rs1569006250
NM_000102.4(CYP17A1):c.157TTC[1] (p.Phe54del) rs121434319
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter) rs751292948
NM_000128.4(F11):c.1234C>T (p.Gln412Ter) rs538083600
NM_000129.4(F13A1):c.233G>T (p.Arg78Leu) rs768024997
NM_000132.4(F8):c.2009TCT[2] (p.Phe672del) rs1476178386
NM_000132.4(F8):c.4379dup (p.Asn1460fs) rs387906455
NM_000135.4(FANCA):c.3066+1G>T rs587783028
NM_000135.4(FANCA):c.3239+1dup rs766989857
NM_000135.4(FANCA):c.377C>T (p.Thr126Met) rs139160837
NM_000135.4(FANCA):c.3934+2T>C rs771775516
NM_000137.4(FAH):c.974C>T (p.Thr325Met) rs770713168
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000159.4(GCDH):c.528C>G (p.Cys176Trp) rs756345321
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter) rs786205862
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter) rs63750563
NM_000187.4(HGD):c.87+1G>A
NM_000191.3(HMGCL):c.825C>G (p.Asn275Lys) rs1287973337
NM_000202.8(IDS):c.121_123del (p.Leu41del) rs2124066296
NM_000202.8(IDS):c.1494del (p.Arg498fs)
NM_000202.8(IDS):c.601_602del (p.Ser201fs) rs2124046861
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027
NM_000213.5(ITGB4):c.2783-2A>G rs758551913
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg) rs863223650
NM_000228.3(LAMB3):c.947G>A (p.Cys316Tyr) rs1553277738
NM_000231.3(SGCG):c.92G>A (p.Trp31Ter)
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter) rs750773622
NM_000232.5(SGCB):c.82_86del (p.Glu28fs) rs1553940687
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys) rs121918258
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs) rs1555095933
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln) rs483352886
NM_000271.5(NPC1):c.3754+3A>C rs1208252513
NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys) rs2053339231
NM_000298.6(PKLR):c.1510C>T (p.Arg504Cys)
NM_000304.4(PMP22):c.341C>T (p.Ala114Val) rs1217342392
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000360.4(TH):c.628G>A (p.Ala210Thr) rs1260455415
NM_000368.5(TSC1):c.1996A>T (p.Lys666Ter) rs1845604585
NM_000377.3(WAS):c.397G>A (p.Glu133Lys) rs2062417344
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000388.4(CASR):c.2528C>A (p.Ala843Glu) rs104893706
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=) rs878853978
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter) rs74315303
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys) rs192732174
NM_000404.4(GLB1):c.65_75+1del rs1382394474
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000444.6(PHEX):c.1946G>A (p.Gly649Asp)
NM_000458.4(HNF1B):c.857T>C (p.Leu286Pro) rs2147545592
NM_000478.6(ALPL):c.1328C>T (p.Ala443Val) rs768053120
NM_000487.6(ARSA):c.413C>T (p.Pro138Leu) rs74315462
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.6(ARSA):c.758dup (p.Met254fs) rs74315270
NM_000492.4(CFTR):c.1140T>A (p.Tyr380Ter)
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.1585-2A>T rs397508233
NM_000492.4(CFTR):c.1871_1878del (p.Ser624fs)
NM_000492.4(CFTR):c.274-1G>C rs121908792
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn) rs397508725
NM_000492.4(CFTR):c.53+1G>T rs397508746
NM_000492.4(CFTR):c.547C>A (p.Leu183Ile) rs397508751
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000512.5(GALNS):c.1003-3C>G rs760239741
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser) rs948490589
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg) rs1422505598
NM_000512.5(GALNS):c.374C>A (p.Pro125Gln) rs746949976
NM_000512.5(GALNS):c.448C>T (p.His150Tyr) rs1168278189
NM_000518.5(HBB):c.380T>A (p.Val127Glu) rs33925391
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile) rs1057519462
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.500G>A (p.Cys167Tyr) rs879254548
NM_000531.6(OTC):c.1009G>T (p.Val337Phe) rs72558487
NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter) rs63750456
NM_000540.3(RYR1):c.13952A>C (p.His4651Pro) rs118192139
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000540.3(RYR1):c.14740A>G (p.Arg4914Gly) rs118192184
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs) rs281860676
NM_000543.5(SMPD1):c.505dup (p.His169fs) rs781535659
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg) rs757934797
NM_000546.6(TP53):c.469G>T (p.Val157Phe) rs121912654
NM_000546.6(TP53):c.994-2A>G rs867389695
NM_000548.5(TSC2):c.4351dup (p.Arg1451fs) rs397514939
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000642.3(AGL):c.4126C>T (p.Gln1376Ter) rs762602838
NM_000720.4(CACNA1D):c.1208_1209insGGG (p.Gly403dup) rs398122827
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
NM_001042492.3(NF1):c.5297C>G (p.Ser1766Ter) rs1555533555
NM_001042492.3(NF1):c.5854T>C (p.Trp1952Arg) rs199474791
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg) rs1064795334
NM_001080.3(ALDH5A1):c.1343+1del rs1561879386
NM_001082971.2(DDC):c.140C>A (p.Pro47His)
NM_001098671.2(RASGRP2):c.1479dup (p.Arg494fs) rs774996406
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001122955.4(BSCL2):c.844_854del (p.Ala282fs) rs1064797076
NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly) rs200697179
NM_001126108.2(SLC12A3):c.2659C>T (p.Arg887Ter) rs747383768
NM_001127178.3(PIGG):c.768_769dup (p.Thr257fs) rs1229339759
NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys) rs778673716
NM_001130987.2(DYSF):c.3381_3382del (p.Phe1128fs) rs398123780
NM_001134407.3(GRIN2A):c.1074C>G (p.His358Gln) rs763315364
NM_001134407.3(GRIN2A):c.4006C>T (p.Leu1336Phe)
NM_001164277.2(SLC37A4):c.1287_1290del (p.Ter430GluextTer?) rs1592107594
NM_001165963.4(SCN1A):c.3429+1G>T rs1574166948
NM_001165963.4(SCN1A):c.3879+5G>T rs796052999
NM_001165963.4(SCN1A):c.4048G>A (p.Val1350Met) rs1574006637
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn) rs1573991676
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg) rs574204412
NM_001199397.3(NEK1):c.894C>G (p.Asn298Lys) rs745526568
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088
NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln) rs1064793161
NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln) rs878853045
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) rs122460158
NM_001326411.2(PISD):c.899G>A (p.Cys300Tyr) rs2072505076
NM_001330260.2(SCN8A):c.4594A>T (p.Ile1532Phe) rs1555229496
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter) rs780441716
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_001371596.2(MFSD8):c.198+2T>C rs2148943607
NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu) rs559623184
NM_001386393.1(PANK2):c.498_499del (p.Cys166fs)
NM_001386393.1(PANK2):c.887A>T (p.Lys296Ile)
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_001848.3(COL6A1):c.1056+2T>A
NM_001918.5(DBT):c.51+1G>C
NM_002225.5(IVD):c.287-2A>G rs781340220
NM_002386.4(MC1R):c.840del (p.Phe280fs) rs2045705764
NM_002437.5(MPV17):c.107A>C (p.Gln36Pro) rs762327729
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln) rs1555945553
NM_002769.5(PRSS1):c.40C>G (p.Leu14Val) rs747228052
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg) rs539898848
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter) rs137886232
NM_002929.3(GRK1):c.1610_1613del (p.Asp537fs) rs756235051
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His) rs767337086
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003106.4(SOX2):c.389G>C (p.Gly130Ala) rs121918652
NM_003126.4(SPTA1):c.83G>A (p.Arg28His) rs121918641
NM_003742.4(ABCB11):c.3728A>G (p.Asp1243Gly) rs761200259
NM_003907.3(EIF2B5):c.806G>A (p.Arg269Gln) rs113994057
NM_003907.3(EIF2B5):c.896G>A (p.Arg299His) rs113994060
NM_004006.3(DMD):c.354G>A (p.Trp118Ter) rs2148849959
NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs) rs34134064
NM_004380.3(CREBBP):c.5366A>G (p.Asn1789Ser) rs1064794963
NM_004408.4(DNM1):c.127G>A (p.Gly43Ser) rs1554767313
NM_004415.4(DSP):c.7773_7776del (p.Ser2591fs) rs763560697
NM_004425.4(ECM1):c.1246C>T (p.Arg416Ter)
NM_004817.4(TJP2):c.1000C>T (p.Arg334Ter) rs1182781290
NM_004960.4(FUS):c.1562G>T (p.Arg521Leu) rs121909671
NM_005026.5(PIK3CD):c.1573G>A (p.Glu525Lys) rs587777389
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005035.4(POLRMT):c.2225_2242del (p.Pro742_Pro747del) rs748846799
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter) rs767795583
NM_005214.5(CTLA4):c.416A>G (p.Tyr139Cys) rs1581573923
NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr) rs786205005
NM_005249.5(FOXG1):c.770T>C (p.Leu257Pro) rs1555321353
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu) rs121909731
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005677.4(COLQ):c.955-2A>C
NM_005989.4(AKR1D1):c.796C>T (p.Arg266Ter) rs770247815
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu) rs1565627304
NM_006019.4(TCIRG1):c.196+1G>T rs2134432498
NM_006371.5(CRTAP):c.444C>G (p.Tyr148Ter) rs972668240
NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp) rs76436818
NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del) rs387906501
NM_006772.3(SYNGAP1):c.2782C>T (p.Gln928Ter) rs1554122249
NM_006831.3(CLP1):c.419G>A (p.Arg140His) rs587777616
NM_007055.4(POLR3A):c.2554A>G (p.Met852Val) rs267608671
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.4165_4166del (p.Gln1388_Ser1389insTer) rs80357572
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln) rs80356988
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys) rs397509257
NM_007317.3(KIF22):c.446G>A (p.Arg149Gln) rs193922922
NM_007327.4(GRIN1):c.1643G>A (p.Arg548Gln) rs1554770044
NM_013275.6(ANKRD11):c.2615_2616del (p.Ser872fs) rs2034464204
NM_014009.4(FOXP3):c.748_750del (p.Lys250del) rs1557116163
NM_014362.4(HIBCH):c.950G>A (p.Gly317Glu) rs786204004
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs) rs786204628
NM_014795.4(ZEB2):c.3535A>G (p.Ile1179Val) rs1360979536
NM_014956.5(CEP164):c.347dup (p.Glu117fs)
NM_015076.5(CDK19):c.95A>G (p.Tyr32Cys) rs1783517622
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter) rs1553212545
NM_015599.3(PGM3):c.378dup (p.Arg127Ter) rs2128506370
NM_015909.4(NBAS):c.6840G>A (p.Thr2280=) rs776597537
NM_015937.6(PIGT):c.709G>C (p.Glu237Gln)
NM_015981.4(CAMK2A):c.884C>A (p.Ala295Asp)
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016188.5(ACTL6B):c.695dup (p.Asn233fs)
NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys) rs267607036
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) rs1554547986
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020320.5(RARS2):c.25A>G (p.Ile9Val)
NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln) rs779162837
NM_020451.3(SELENON):c.249_250dup (p.Asp84fs) rs1553198611
NM_020822.3(KCNT1):c.108del (p.Arg37fs)
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) rs397509422
NM_022356.4(P3H1):c.1383_1389dup (p.Lys464fs)
NM_022356.4(P3H1):c.572del (p.Gly191fs)
NM_023110.3(FGFR1):c.1977+1G>A rs876661334
NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs) rs1264222654
NM_024426.6(WT1):c.1348C>T (p.His450Tyr) rs28942089
NM_024685.4(BBS10):c.745_746insTA (p.Arg249fs) rs1555202687
NM_024989.4(PGAP1):c.586CTT[1] (p.Leu197del) rs587777378
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter) rs312262737
NM_031844.3(HNRNPU):c.669_691del (p.Arg224fs) rs754216321
NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter) rs527236133
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032638.5(GATA2):c.1021_1024dup (p.Ala342fs) rs869320770
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_133443.4(GPT2):c.1441G>A (p.Gly481Ser) rs745565332
NM_138413.4(HOGA1):c.134C>T (p.Pro45Leu) rs764396564
NM_139276.3(STAT3):c.994C>T (p.His332Tyr) rs2144827923
NM_144596.4(TTC8):c.114+2T>C rs1273244823
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter) rs763363403
NM_152296.5(ATP1A3):c.973G>C (p.Gly325Arg) rs2145977694
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser) rs763283033
NM_152419.3(HGSNAT):c.744-2A>G rs762402992
NM_153006.3(NAGS):c.1268+2T>C rs202041339
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.868G>T (p.Gly290Cys)
NM_177924.5(ASAH1):c.505T>C (p.Trp169Arg) rs756455049
NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp) rs149766077
NM_183075.3(CYP2U1):c.1355A>T (p.Asp452Val)
NM_198239.2(CCN6):c.1010G>A (p.Cys337Tyr) rs781986930
NM_198271.5(LMOD3):c.1099_1100del (p.Asn367fs) rs727502799
NM_199242.3(UNC13D):c.3053C>A (p.Ala1018Asp)
NM_201525.4(ADGRG1):c.1010dup (p.Gln338fs)
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs) rs1388040238

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