ClinVar Miner

Variants from Genetic Services Laboratory, University of Chicago with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Genetic Services Laboratory, University of Chicago: Collection method of the submission from Genetic Services Laboratory, University of Chicago:
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
7907 6267 55 6993 3593 32 434 10350

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
Genetic Services Laboratory, University of Chicago pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response established risk allele pathogenic, low penetrance protective risk factor uncertain risk allele other
pathogenic 1 322 103 2 4 1 0 2 0 3 0 3 0 0
likely pathogenic 232 2 145 5 3 0 0 0 1 0 0 0 0 0
uncertain significance 67 105 15 2252 782 0 1 0 0 0 0 2 1 0
likely benign 7 15 861 17 4556 0 0 1 0 0 2 5 0 1
benign 8 5 235 1883 20 0 0 1 0 0 0 2 0 1
risk factor 1 1 1 0 0 0 0 0 0 0 0 0 0 0
other 5 2 3 3 3 1 2 2 0 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 225
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
GeneDx 0 5176 0 3664 1145 4 78 4891
PreventionGenetics, part of Exact Sciences 0 3481 0 2144 946 5 16 3111
Invitae 0 3446 0 1716 1052 5 104 2877
Eurofins Ntd Llc (ga) 0 1831 0 1168 520 4 13 1705
CeGaT Center for Human Genetics Tuebingen 0 2216 0 907 671 5 31 1614
Athena Diagnostics Inc 0 884 0 955 161 0 14 1130
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1185 0 675 335 2 23 1035
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1084 0 807 206 1 4 1018
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 757 0 660 78 1 1 740
Clinical Genetics, Academic Medical Center 0 635 0 635 101 0 2 738
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 648 0 540 137 0 4 681
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 761 0 488 118 2 7 615
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 623 0 490 117 0 3 610
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 579 0 459 101 0 0 560
Quest Diagnostics Nichols Institute San Juan Capistrano 0 676 0 295 184 1 7 487
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 461 0 390 81 1 2 474
Ambry Genetics 0 546 0 227 148 0 8 383
Illumina Laboratory Services, Illumina 0 464 0 180 151 2 15 346
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 321 0 260 56 0 4 320
Mayo Clinic Laboratories, Mayo Clinic 0 373 0 217 79 3 8 307
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 413 0 179 94 2 2 277
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 113 47 73 82 0 1 203
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 279 0 153 24 0 1 178
Department of Pathology and Laboratory Medicine, Sinai Health System 0 189 0 62 87 1 2 152
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 187 0 46 84 1 3 134
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 333 0 69 38 1 0 108
Revvity Omics, Revvity 0 353 0 43 24 0 27 94
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 105 0 79 10 0 0 89
Mendelics 0 69 0 26 57 0 3 86
OMIM 0 226 0 41 8 19 11 79
Genome-Nilou Lab 0 219 0 37 30 0 11 78
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 80 0 39 20 1 2 62
Fulgent Genetics, Fulgent Genetics 0 232 0 50 5 0 0 55
Natera, Inc. 0 90 0 29 17 0 5 51
Leiden Open Variation Database 0 28 0 21 16 0 6 43
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 35 35
Counsyl 0 46 0 28 0 0 6 34
Baylor Genetics 0 165 0 23 0 0 6 29
All of Us Research Program, National Institutes of Health 0 50 0 5 13 0 9 27
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 4 0 2 4 0 17 23
Color Diagnostics, LLC DBA Color Health 0 67 0 11 10 0 1 22
CSER _CC_NCGL, University of Washington 0 22 0 5 15 0 1 21
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 15 0 6 13 0 1 20
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 24 0 12 0 0 8 20
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 8 0 19 0 0 0 19
Institute of Human Genetics, University of Leipzig Medical Center 0 69 0 13 1 0 4 18
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 46 0 13 0 0 5 18
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 5 0 7 9 1 1 18
RettBASE 0 75 0 13 0 0 4 17
3billion 0 69 0 14 0 0 2 16
Claritas Genomics 0 7 0 15 0 0 0 15
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 38 0 7 4 0 4 15
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 11 0 11 3 0 0 14
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 13 0 10 3 0 1 14
MGZ Medical Genetics Center 0 47 0 10 0 0 3 13
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 0 17 0 13 0 0 0 13
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 18 0 9 2 1 1 13
Blueprint Genetics 0 19 0 1 9 0 2 12
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 28 0 3 3 0 6 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 39 0 7 2 0 2 11
SIB Swiss Institute of Bioinformatics 0 11 0 11 0 0 0 11
AiLife Diagnostics, AiLife Diagnostics 0 28 0 5 3 0 3 11
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 12 0 2 5 0 4 11
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 14 0 8 1 0 1 10
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 24 0 8 1 1 0 10
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 0 7 0 8 2 0 0 10
Centre for Population Genomics, CPG 0 27 0 9 1 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 60 0 8 0 0 1 9
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 29 0 9 0 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 20 0 2 2 0 5 9
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 3 0 1 0 0 7 8
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 0 18 0 5 3 0 0 8
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 8 0 6 1 0 0 7
Genomics England Pilot Project, Genomics England 0 6 0 7 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 33 0 4 1 0 1 6
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 41 0 2 3 0 1 6
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 2 4 0 0 0 6
NIHR Bioresource Rare Diseases, University of Cambridge 0 4 0 4 2 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 16 0 6 0 0 0 6
New York Genome Center 0 34 0 3 2 0 1 6
Neuberg Centre For Genomic Medicine, NCGM 0 33 0 6 0 0 0 6
Clinical Genetics and Genomics, Karolinska University Hospital 0 20 0 3 0 0 2 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 25 0 3 0 0 2 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 40 0 4 0 0 1 5
Yale Center for Mendelian Genomics, Yale University 0 3 0 2 0 0 3 5
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 9 0 4 0 0 1 5
DASA 0 28 0 3 0 1 1 5
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 2 0 3 1 0 0 4
King Laboratory, University of Washington 0 1 0 0 3 0 1 4
Centogene AG - the Rare Disease Company 0 25 0 4 0 0 0 4
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 4 4
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 4 0 0 0 0 4
UCLA Clinical Genomics Center, UCLA 0 1 0 4 0 0 0 4
Division of Human Genetics, Children's Hospital of Philadelphia 0 7 0 2 1 0 1 4
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 4 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 28 0 4 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 15 0 3 0 0 1 4
Diagnostic Laboratory, Strasbourg University Hospital 0 0 0 0 1 0 3 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 20 0 4 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 0 24 0 3 1 0 0 4
Department of Pathology and Molecular Medicine, Queen's University 0 6 0 3 1 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 11 0 2 2 0 0 4
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 10 0 0 3 1 0 4
Gharavi Laboratory, Columbia University 0 3 0 0 4 0 0 4
Myriad Genetics, Inc. 0 41 0 3 0 0 1 4
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 1 0 2 0 0 2 4
Elsea Laboratory, Baylor College of Medicine 0 1 0 0 0 0 3 3
GeneReviews 0 99 1 1 0 0 1 3
PharmGKB 0 0 0 0 0 3 0 3
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 6 0 1 2 0 0 3
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 0 3 0 0 0 3
Clinical Genetics, Erasmus University Medical Center 0 0 0 0 2 0 1 3
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 6 0 2 1 0 0 3
Center for Personalized Medicine, Children's Hospital Los Angeles 0 3 0 1 1 0 1 3
University of Washington Department of Laboratory Medicine, University of Washington 0 6 0 0 2 1 0 3
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 0 3 0 1 0 0 2 3
Institute of Human Genetics, University Hospital Muenster 0 9 0 1 1 0 1 3
Lifecell International Pvt. Ltd 0 7 0 3 0 0 0 3
Paris Brain Institute, Inserm - ICM 0 4 0 3 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 8 0 3 0 0 0 3
MVZ Dr. Eberhard & Partner Dortmund 0 0 0 0 2 0 0 2
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center 0 0 1 0 1 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 2 0 2 0 0 0 2
Center for Genetic Medicine Research, Children's National Medical Center 0 4 0 0 2 0 0 2
Shaikh Laboratory, University of Colorado 0 0 0 2 0 0 0 2
Chan Lab, Boston Children's Hospital 0 0 0 0 0 0 2 2
Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 0 0 0 0 1 0 1 2
Laboratory of Human Genetics, Universidade de São Paulo 0 1 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 0 9 0 2 0 0 0 2
Neurogenetics Research Program, University of Adelaide 0 0 0 0 2 0 0 2
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 0 0 2 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 6 0 1 1 0 0 2
3DMed Clinical Laboratory Inc 0 2 0 0 2 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 9 0 2 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 3 0 1 1 0 0 2
Wessex Regional Genetics Laboratory, Salisbury District Hospital 0 8 0 2 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 0 7 0 2 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 12 0 1 0 0 1 2
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 1 0 0 1 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 3 0 2 0 0 0 2
Suma Genomics 0 9 0 0 0 0 2 2
Phenosystems SA 0 0 0 0 0 0 2 2
Clinical Genomics Labs, University Health Network 0 0 0 0 0 0 2 2
The Telomere Center at Johns Hopkins, Johns Hopkins University School of Medicine 0 0 0 1 0 0 1 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 0 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 4 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 1 0 1 0 0 0 1
Eye Genetics Research Group, Children's Medical Research Institute 0 0 0 0 1 0 0 1
Breast Cancer Information Core (BIC) (BRCA2) 0 4 0 0 0 0 1 1
Department of Genetics, Robert DEBRE University Hospital 0 0 0 1 0 0 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 0 0 0 1 1
TilsonLab, Columbia University 0 0 0 0 0 0 1 1
CHU Sainte-Justine Research Center, University of Montreal 0 0 0 1 0 0 0 1
GeneKor MSA 0 5 0 1 0 0 0 1
Dobyns Lab, Seattle Children's Research Institute 0 1 0 1 0 0 0 1
Neurogenetics of motion laboratory, Montreal Neurological Institute 0 2 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 5 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 0 1 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 1 0 1 0 0 0 1
Center for Human Genetics, University of Leuven 0 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 5 0 1 0 0 0 1
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 0 0 0 0 0 0 1 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 1 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 10 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics, CHU Rennes 0 0 0 0 0 0 1 1
Database of Curated Mutations (DoCM) 0 1 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 0 0 0 0 1 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 3 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER, AOU Meyer 0 2 0 1 0 0 0 1
Endocrine oncology group, Uppsala University 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 2 0 0 0 0 1 1
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 0 0 0 0 0 0 1 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 0 0 1 0 0 0 1
Inherited Neuropathy Consortium 0 0 0 1 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 0 0 0 1 1
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 0 0 0 1 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 1 0 0 0 1
Medical Genetics Summaries 0 0 0 0 0 1 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 1 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 4 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 14 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 17 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 8 0 0 0 0 1 1
Lab. Molecular Oncology, VUB, Free University of Brussels 0 0 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 20 0 0 1 0 0 1
Institute of Reproductive Genetics, University of Münster 0 0 0 0 0 0 1 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 6 0 0 1 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 1 0 1 0 0 0 1
deCODE genetics, Amgen 0 2 0 1 0 0 0 1
Bioinformatics Institute, Agency for Science, Technology and Research 0 0 0 0 0 1 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 0 0 1 0 0 1
CZECANCA consortium 0 6 0 1 0 0 0 1
Difficult and Complicated Liver Diseases and Artificial Liver Center, Beijing You An Hospital, Capital Medical University 0 0 0 0 0 1 0 1
ClinGen TP53 Variant Curation Expert Panel, ClinGen 0 0 0 0 1 0 0 1
Genesis Genoma Lab, Genesis Genoma Lab 0 0 0 1 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 4 0 1 0 0 0 1
State Key Laboratory of Oncogenes and Related Genes, Shanghai Cancer Institute, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University 0 0 0 0 0 0 1 1
Autoinflammatory diseases unit, CHU de Montpellier 0 13 0 1 0 0 0 1
Pediatric Oncology, Johns Hopkins University 0 0 0 0 1 0 0 1
Clinical Genomics Program, Stanford Medicine 0 6 0 0 0 0 1 1
Population Bio, Inc. 0 0 0 0 0 1 0 1
Ding PR Lab, Sun Yat-sen University Cancer Center 0 0 0 1 0 0 0 1
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research 0 0 0 1 0 0 0 1
Department of Medical Genetics, Hue University of Medicine and Pharmacy 0 0 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 1 0 0 0 1
Department of Pathophysiology and Transplantation, University of Milan 0 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 4 0 0 0 0 1 1
Centre for Human Genetics, University of Kinshasa 0 0 0 1 0 0 0 1
Molecular Genetics, Madras Diabetes Research Foundation 0 1 0 1 0 0 0 1
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 6 0 1 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 0 0 0 1 0 0 0 1
H3Africa Consortium 0 3 0 1 0 0 0 1
Imperial College London Diabetes Centre, Mubadala Healthcare 0 0 0 1 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 1 0 0 0 1
Arcensus 0 2 0 1 0 0 0 1
Geisinger Clinic, Geisinger Health System 0 3 0 1 0 0 0 1
Department of Neurology, Children’s Hospital of Chongqing Medical University 0 0 0 0 1 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 4 0 1 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 0 0 1 0 0 0 1
ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 10350
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.81+20= rs6876576 0.99994
NM_030928.4(CDT1):c.700T>C (p.Cys234Arg) rs507329 0.99944
NM_001042413.2(GLIS3):c.1270T>C (p.Ser424Pro) rs806052 0.99890
NM_004525.3(LRP2):c.63G>C (p.Ala21=) rs1559014 0.99771
NM_014832.5(TBC1D4):c.723G>C (p.Gly241=) rs7983969 0.99710
NM_031407.7(HUWE1):c.12177T>C (p.Gly4059=) rs426298 0.99420
NM_020921.4(NIN):c.933G>C (p.Leu311=) rs8020503 0.99252
NM_020921.4(NIN):c.5628+5T>C rs3015485 0.99236
NM_016529.6(ATP8A2):c.2286G>C (p.Leu762=) rs6491088 0.99194
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly) rs2515569 0.99154
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val) rs2147377 0.99149
NM_005045.4(RELN):c.8843+7G>C rs2711885 0.98938
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701 0.98600
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=) rs27673 0.98545
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598 0.98511
NM_018026.4(PACS1):c.2777-3T>C rs524268 0.98359
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=) rs1432794 0.97933
NM_032119.4(ADGRV1):c.16279G>A (p.Val5427Met) rs2438378 0.97114
NM_006214.4(PHYH):c.153C>T (p.Asn51=) rs1747682 0.96869
NM_001130438.3(SPTAN1):c.2560+43G>A rs4836615 0.96851
NM_001130438.3(SPTAN1):c.4905+41C>G rs7024498 0.96844
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) rs31304 0.96579
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg) rs268674 0.95976
NM_002025.4(AFF2):c.3404+7A>G rs5980615 0.95464
NM_001378615.1(CC2D2A):c.4065+28A>T rs6832789 0.95451
NM_015386.3(COG4):c.485C>T (p.Thr162Ile) rs3931036 0.95397
NM_007327.4(GRIN1):c.1467+8G>A rs10747050 0.95319
NM_016553.5(NUP62):c.1323T>C (p.Asp441=) rs892028 0.95154
NM_024753.5(TTC21B):c.826A>G (p.Thr276Ala) rs7592429 0.95088
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val) rs3027238 0.94552
NM_015346.4(ZFYVE26):c.5672A>G (p.Asn1891Ser) rs3742883 0.93729
NM_032119.4(ADGRV1):c.16031A>G (p.Glu5344Gly) rs2438374 0.93517
NM_001126121.2(SLC25A19):c.339T>C (p.Tyr113=) rs7213318 0.93459
NM_001130438.3(SPTAN1):c.6708-47G>A rs7866175 0.93246
NM_198994.3(TGM6):c.172A>G (p.Met58Val) rs2076405 0.93204
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=) rs2217342 0.93139
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857 0.93013
NM_022095.4(ZNF335):c.201+10C>G rs6017715 0.92719
NM_001003841.3(SLC6A19):c.990A>G (p.Thr330=) rs4975629 0.91839
NM_016219.5(MAN1B1):c.176A>G (p.Asn59Ser) rs968733 0.91637
NM_015665.6(AAAS):c.855C>T (p.Phe285=) rs1546808 0.91562
NM_001123385.2(BCOR):c.1260T>C (p.Asp420=) rs5917933 0.91469
NM_032119.4(ADGRV1):c.18625-7T>C rs7726023 0.91136
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala) rs8037349 0.90740
NM_004715.5(CTDP1):c.2817T>C (p.Asp939=) rs626169 0.90284
NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=) rs11402 0.90128
NM_022095.4(ZNF335):c.881G>C (p.Ser294Thr) rs6032606 0.89832
NM_000430.4(PAFAH1B1):c.568+27C>T rs3213696 0.89105
NM_002739.5(PRKCG):c.72C>T (p.Ala24=) rs2547362 0.89099
NM_001184.4(ATR):c.7875G>A (p.Gln2625=) rs1802904 0.88595
NM_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776 0.88431
NM_018344.6(SLC29A3):c.383+8A>G rs2243540 0.87959
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431 0.87890
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502 0.87885
NM_018344.6(SLC29A3):c.976A>G (p.Ile326Val) rs2487068 0.87306
NM_018344.6(SLC29A3):c.714T>C (p.Thr238=) rs2252997 0.87276
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) rs2229960 0.86626
NM_012301.4(MAGI2):c.3357A>G (p.Leu1119=) rs2074641 0.86492
NM_012301.4(MAGI2):c.3213G>A (p.Ser1071=) rs7812015 0.86488
NM_001849.4(COL6A2):c.1671+10A>G rs915786 0.86241
NM_001961.4(EEF2):c.1632T>C (p.His544=) rs36526 0.86134
NM_001961.4(EEF2):c.2190T>C (p.Tyr730=) rs36527 0.86130
NM_198525.3(KIF7):c.2658A>C (p.Ala886=) rs3803531 0.85312
NM_001378615.1(CC2D2A):c.247+26A>G rs10000250 0.85216
NM_022455.5(NSD1):c.6829T>C (p.Leu2277=) rs28580074 0.84910
NM_018344.6(SLC29A3):c.715G>A (p.Val239Ile) rs2252996 0.84751
NM_018344.6(SLC29A3):c.1008T>C (p.Gly336=) rs1084004 0.84205
NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln) rs4836822 0.84114
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_030928.4(CDT1):c.915T>C (p.His305=) rs510862 0.83978
NM_078470.6(COX15):c.*1126T>C rs2231687 0.83974
NM_017780.4(CHD7):c.2238+39G>A rs4540437 0.83608
NM_018249.6(CDK5RAP2):c.1093-27A>G rs2095064 0.83235
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met) rs2306916 0.82174
NM_003282.4(TNNI2):c.60T>C (p.Ser20=) rs907610 0.82025
NM_016553.5(NUP62):c.648C>T (p.Ser216=) rs999583 0.81792
NM_001715.3(BLK):c.843T>C (p.Phe281=) rs2306234 0.81190
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829 0.81114
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr) rs6911096 0.80856
NM_016219.5(MAN1B1):c.2046T>C (p.Asp682=) rs4880091 0.80826
NM_000744.7(CHRNA4):c.678T>C (p.Cys226=) rs1044394 0.80763
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg) rs9479297 0.80638
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=) rs1412640 0.80210
NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=) rs711631 0.80127
NM_015915.5(ATL1):c.351G>A (p.Glu117=) rs1060197 0.79691
NM_201525.4(ADGRG1):c.996T>C (p.Thr332=) rs1376041 0.79529
NM_004525.3(LRP2):c.12280A>G (p.Lys4094Glu) rs2075252 0.79497
NM_017780.4(CHD7):c.2614-45A>G rs6471902 0.79408
NM_173630.4(RTTN):c.5282T>C (p.Phe1761Ser) rs4891392 0.79319
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=) rs31303 0.79100
NM_018451.5(CENPJ):c.3478-49C>T rs1530876 0.78901
NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala) rs906807 0.78836
NM_000744.7(CHRNA4):c.639T>C (p.Asp213=) rs1044393 0.78554
NM_017780.4(CHD7):c.4533+46A>G rs7844902 0.77651
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=) rs11553521 0.77624
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val) rs3826543 0.77529
NM_018136.5(ASPM):c.10331+8A>G rs10754213 0.77181
NM_018136.5(ASPM):c.1922-41G>A rs1332663 0.77179
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=) rs4915337 0.77164
NM_025114.4(CEP290):c.2818-50G>C rs2471532 0.76931
NM_025114.4(CEP290):c.5227-43G>A rs2468245 0.76925
NM_004836.7(EIF2AK3):c.2110G>T (p.Ala704Ser) rs1805165 0.76783
NM_017780.4(CHD7):c.1665+34G>A rs7836586 0.76770
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys) rs2366928 0.76700
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_032119.4(ADGRV1):c.2367+8C>T rs2366773 0.76285
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=) rs1139405 0.75861
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_014630.3(ZNF592):c.2238A>G (p.Gln746=) rs2241645 0.75696
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe) rs4630153 0.75355
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) rs4766309 0.75219
NM_001372574.1(ATXN2):c.42G>A (p.Gln14=) rs4098854 0.75204
NM_001378615.1(CC2D2A):c.1764+45T>G rs1558572 0.75139
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys) rs2278008 0.75062
NM_004168.4(SDHA):c.891T>C (p.Pro297=) rs1126417 0.74998
NM_001358921.2(COQ2):c.744T>C (p.Asp248=) rs6535454 0.74903
NM_018136.5(ASPM):c.441+14C>T rs1571964 0.74895
NM_018136.5(ASPM):c.849C>T (p.Ser283=) rs6677082 0.74886
NM_152783.5(D2HGDH):c.292+28T>G rs62191977 0.74780
NM_001385875.1(ZFYVE27):c.413G>T (p.Gly138Val) rs10882993 0.74523
NM_014832.5(TBC1D4):c.2455G>A (p.Val819Ile) rs1062087 0.74406
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe) rs2366777 0.74245
NM_002617.4(PEX10):c.291A>G (p.Thr97=) rs2494598 0.74152
NM_032119.4(ADGRV1):c.7751A>G (p.Asn2584Ser) rs1878878 0.74142
NM_014324.6(AMACR):c.602T>C (p.Leu201Ser) rs2287939 0.73966
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860 0.73885
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771 0.73872
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile) rs4916684 0.73682
NM_173630.4(RTTN):c.376T>G (p.Ser126Ala) rs3911730 0.73528
NM_001163809.2(WDR81):c.4971A>G (p.Leu1657=) rs3809872 0.73341
NM_032119.4(ADGRV1):c.9907-35A>C rs7723259 0.72915
NM_001130438.3(SPTAN1):c.2560+47C>T rs4837284 0.72327
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000240.4(MAOA):c.891G>T (p.Arg297=) rs6323 0.71997
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300 0.71989
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110 0.71935
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690 0.71839
NM_004560.4(ROR2):c.2455G>A (p.Val819Ile) rs10761129 0.71630
NM_001130438.3(SPTAN1):c.6280-27C>T rs3737308 0.71407
NM_018249.6(CDK5RAP2):c.5579-34G>C rs2297457 0.71354
NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg) rs13045 0.71334
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596 0.71202
NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu) rs4837768 0.70962
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860 0.70508
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) rs1046316 0.70506
NM_004544.4(NDUFA10):c.105A>G (p.Lys35=) rs2083411 0.70392
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=) rs9646771 0.70187
NM_001163809.2(WDR81):c.5451A>G (p.Thr1817=) rs11549259 0.69948
NM_024596.5(MCPH1):c.228G>T (p.Val76=) rs2305022 0.69651
NM_020227.4(PRDM9):c.2042C>G (p.Thr681Ser) rs6875787 0.69581
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355 0.69367
NM_133259.4(LRPPRC):c.246G>A (p.Gln82=) rs6741066 0.69341
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208 0.69255
NM_006013.5(RPL10):c.605= (p.Ser202=) rs4909 0.69154
NM_001378615.1(CC2D2A):c.3183-8T>C rs13121363 0.69106
NM_001999.4(FBN2):c.5675-9C>T rs27713 0.68788
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_001378615.1(CC2D2A):c.3288+41A>C rs13116304 0.68417
NM_016529.6(ATP8A2):c.1683C>T (p.Phe561=) rs6491066 0.68336
NM_006005.3(WFS1):c.684C>G (p.Arg228=) rs1801213 0.68223
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=) rs2306875 0.68068
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_001164508.2(NEB):c.771T>C (p.Ala257=) rs4611637 0.68008
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=) rs11080572 0.67857
NM_000057.4(BLM):c.3359-121_3359-120insA rs11377009 0.67736
NM_173495.3(PTCHD1):c.858T>C (p.Cys286=) rs5926304 0.67668
NM_006031.6(PCNT):c.7914-16C>T rs2839257 0.67468
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_006031.6(PCNT):c.720+17T>C rs9982233 0.67221
NM_002156.5(HSPD1):c.273A>G (p.Lys91=) rs8539 0.67099
NM_024596.5(MCPH1):c.940G>C (p.Asp314His) rs930557 0.67053
NM_032531.4(KIRREL3):c.1995C>T (p.Gly665=) rs948052 0.66811
NM_001184.4(ATR):c.5898+25T>G rs7620648 0.66679
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=) rs4674 0.66668
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=) rs284652 0.66509
NM_004560.4(ROR2):c.733A>G (p.Thr245Ala) rs10820900 0.66416
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr) rs2288210 0.66332
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met) rs7426114 0.66326
NM_201384.3(PLEC):c.2457+6C>T rs11780911 0.66214
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482 0.66162
NM_002495.4(NDUFS4):c.12G>C (p.Val4=) rs2279516 0.65985
NM_144599.5(NIPA1):c.441A>G (p.Thr147=) rs11263683 0.65973
NM_018249.6(CDK5RAP2):c.5578+29C>G rs4410972 0.65760
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393 0.65667
NM_000152.5(GAA):c.547-4C>G rs3816256 0.65665
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304 0.65453
NM_000240.4(MAOA):c.1410T>C (p.Asp470=) rs1137070 0.65298
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65135
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599 0.64925
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031 0.64845
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=) rs4407724 0.64816
NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=) rs6923864 0.64620
NM_207346.3(TSEN54):c.285+32C>A rs7218675 0.64612
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=) rs6432901 0.64588
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=) rs914428 0.64398
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro) rs7575451 0.64120
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069 0.64010
NM_006005.3(WFS1):c.1500C>T (p.Asn500=) rs1801214 0.63787
NM_001184.4(ATR):c.1776T>A (p.Gly592=) rs2227930 0.63717
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482 0.63686
NM_001184.4(ATR):c.632T>C (p.Met211Thr) rs2227928 0.63625
NM_006005.3(WFS1):c.461-9A>G rs10010131 0.63169
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921 0.63042
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524 0.62551
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu) rs6818847 0.62431
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=) rs303815 0.62374
NM_004247.4(EFTUD2):c.426+8G>A rs2289677 0.62345
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=) rs2256135 0.62211
NM_001042413.2(GLIS3):c.1367C>A (p.Pro456Gln) rs6415788 0.62075
NM_000352.6(ABCC8):c.2820+17A>G rs2106865 0.62022
NM_024753.5(TTC21B):c.601G>A (p.Val201Met) rs1432273 0.61903
NM_005055.5(RAPSN):c.456T>C (p.Tyr152=) rs7111873 0.61686
NM_005055.5(RAPSN):c.1143T>C (p.Pro381=) rs7126210 0.61595
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe) rs780668 0.61569
NM_004525.3(LRP2):c.2025C>T (p.Val675=) rs830994 0.61350
NM_152783.5(D2HGDH):c.1307-24A>G rs6756901 0.61160
NM_001372574.1(ATXN2):c.-91C>T rs695872 0.61029
NM_000540.3(RYR1):c.594A>G (p.Leu198=) rs2229139 0.60966
NM_001372574.1(ATXN2):c.-162C>G rs695871 0.60874
NM_001365088.1(SLC12A6):c.1492+45C>T rs10851964 0.60740
NM_004525.3(LRP2):c.12628A>C (p.Ile4210Leu) rs4667591 0.60691
NM_004525.3(LRP2):c.13113C>T (p.Ile4371=) rs990626 0.59977
NM_005198.5(CHKB):c.333+10G>T rs86337 0.59693
NM_001875.5(CPS1):c.1032C>T (p.Thr344=) rs2229589 0.59558
NM_032737.4(LMNB2):c.1416T>C (p.Gly472=) rs11084940 0.59479
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=) rs901854 0.59379
NM_000123.4(ERCC5):c.138T>C (p.His46=) rs1047768 0.59353
NM_181882.3(PRX):c.2645T>C (p.Val882Ala) rs268671 0.59048
NM_000742.4(CHRNA2):c.373A>G (p.Thr125Ala) rs891398 0.58886
NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln) rs3772165 0.58882
NM_015080.4(NRXN2):c.531C>T (p.Gly177=) rs2518907 0.58725
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_001048166.1(STIL):c.257C>T (p.Ala86Val) rs3125630 0.58260
NM_024884.3(L2HGDH):c.53T>G (p.Leu18Arg) rs2275591 0.58246
NM_030665.4(RAI1):c.1992G>A (p.Pro664=) rs8067439 0.58185
NM_006517.5(SLC16A2):c.1399+43T>G rs5937843 0.57946
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) rs1046314 0.57941
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397 0.57872
NM_024884.3(L2HGDH):c.159C>T (p.Ile53=) rs2297995 0.57826
NM_007325.5(GRIA3):c.1200T>C (p.Asn400=) rs502434 0.57798
NM_001032382.2(PQBP1):c.180-3C>T rs741932 0.57792
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=) rs9397102 0.57769
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691 0.57506
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249 0.57256
NM_181882.3(PRX):c.2655T>C (p.Pro885=) rs268672 0.56968
NM_006059.4(LAMC3):c.219T>G (p.His73Gln) rs3739512 0.56936
NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro) rs6923492 0.56892
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) rs213950 0.56732
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) rs6747673 0.56670
NM_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206 0.56648
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774 0.56484
NM_020921.4(NIN):c.5637G>A (p.Gln1879=) rs11376 0.56301
NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=) rs3735801 0.55959
NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=) rs3735802 0.55845
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp) rs4645434 0.55815
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086 0.55793
NM_152783.5(D2HGDH):c.685-9T>C rs4234097 0.55730
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=) rs4664475 0.55659
NM_201384.3(PLEC):c.11886A>G (p.Thr3962=) rs6558406 0.55590
NM_003194.5(TBP):c.771T>C (p.Asn257=) rs1042327 0.55570
NM_001278064.2(GRM1):c.3495C>A (p.Pro1165=) rs9373491 0.55222
NM_020999.4(NEUROG3):c.596T>C (p.Phe199Ser) rs4536103 0.55018
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472 0.54674
NM_004525.3(LRP2):c.2460A>G (p.Thr820=) rs2241190 0.54408
NM_015559.3(SETBP1):c.540+7405G>A rs663651 0.54347
NM_201384.3(PLEC):c.12813A>G (p.Ser4271=) rs6558405 0.54173
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=) rs7966867 0.54127
NM_201384.3(PLEC):c.13461T>C (p.Ala4487=) rs7014582 0.54076
NM_001361.5(DHODH):c.19A>C (p.Lys7Gln) rs3213422 0.54012
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=) rs7158 0.53959
NM_201384.3(PLEC):c.11628A>G (p.Pro3876=) rs7822511 0.53938
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_004525.3(LRP2):c.3069A>G (p.Thr1023=) rs831043 0.53755
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
NM_004993.6(ATXN3):c.492C>T (p.Val164=) rs16999141 0.53657
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=) rs9672286 0.53592
NM_032119.4(ADGRV1):c.10161+26G>T rs4916815 0.53367
NM_201384.3(PLEC):c.7960T>C (p.Ser2654Pro) rs7833924 0.53335
NM_003619.4(PRSS12):c.1281A>G (p.Gln427=) rs2292597 0.53313
NM_201384.3(PLEC):c.3965A>G (p.His1322Arg) rs55895668 0.53310
NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=) rs17261772 0.53257
NM_001083962.2(TCF4):c.789+23C>T rs1788027 0.53241
NM_001378615.1(CC2D2A):c.1765-24A>G rs1861044 0.52969
NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=) rs4789164 0.52943
NM_020921.4(NIN):c.1128T>C (p.Val376=) rs17793018 0.52775
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg) rs12900805 0.52523
NM_032119.4(ADGRV1):c.11682C>T (p.Pro3894=) rs2438349 0.52519
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile) rs3803530 0.52464
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala) rs214976 0.52364
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530 0.52046
NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro) rs7918487 0.51842
NM_004056.6(CA8):c.327A>G (p.Glu109=) rs7464181 0.51676
NM_000257.4(MYH7):c.189C>T (p.Thr63=) rs2069540 0.51584
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267 0.51379
NM_001415.4(EIF2S3):c.99C>T (p.His33=) rs36018672 0.51303
NM_001931.5(DLAT):c.953T>C (p.Val318Ala) rs627441 0.51169
NM_001953.5(TYMP):c.972C>T (p.Ala324=) rs131804 0.51130
NM_024809.5(TCTN2):c.1099+19T>C rs7137946 0.50815
NM_024809.5(TCTN2):c.891+22T>C rs7302449 0.50676
NM_004525.3(LRP2):c.3660A>G (p.Ala1220=) rs831042 0.50520
NM_201384.3(PLEC):c.11127T>C (p.Ala3709=) rs7819099 0.50384
NM_182961.4(SYNE1):c.1047+4T>A rs9397106 0.50379
NM_000217.3(KCNA1):c.804G>C (p.Thr268=) rs2227910 0.50318
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052 0.50252
NM_005045.4(RELN):c.8046T>C (p.His2682=) rs2229864 0.49951
NM_001278064.2(GRM1):c.2793G>A (p.Lys931=) rs2942 0.49950
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=) rs1129768 0.49865
NM_030928.4(CDT1):c.784A>G (p.Thr262Ala) rs480727 0.49695
NM_005045.4(RELN):c.578-3T>C rs607755 0.49658
NM_015080.4(NRXN2):c.2745C>T (p.Ile915=) rs526338 0.49435
NM_000383.4(AIRE):c.1578T>C (p.Asp526=) rs1133779 0.49415
NM_001715.3(BLK):c.330T>C (p.Ser110=) rs3816668 0.49161
NM_000489.6(ATRX):c.2785= (p.Glu929=) rs3088074 0.49116
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=) rs1432793 0.48793
NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser) rs3759871 0.48431
NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=) rs6684 0.48379
NM_006059.4(LAMC3):c.1932C>T (p.Ser644=) rs12349966 0.48282
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099 0.48281
NM_015386.3(COG4):c.2142G>A (p.Ser714=) rs11054 0.47870
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606 0.47852
NM_018344.6(SLC29A3):c.52A>G (p.Arg18Gly) rs2277257 0.47837
NM_006059.4(LAMC3):c.1631A>G (p.Glu544Gly) rs10901333 0.47711
NM_001142633.3(PIK3R5):c.1075T>C (p.Leu359=) rs381309 0.47682
NM_001142633.3(PIK3R5):c.837C>T (p.His279=) rs394811 0.47651
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099 0.47531
NM_001386140.1(MTTP):c.453T>C (p.Gly151=) rs991811 0.47516
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro) rs6493068 0.47359
NM_014832.5(TBC1D4):c.2901C>T (p.Leu967=) rs2297208 0.47333
NM_001386140.1(MTTP):c.891C>G (p.His297Gln) rs2306985 0.47212
NM_030928.4(CDT1):c.1587C>G (p.Leu529=) rs572275 0.47081
NM_000217.3(KCNA1):c.684T>C (p.Cys228=) rs1048500 0.46819
NM_000352.6(ABCC8):c.579+14C>T rs2301703 0.46493
NM_001374828.1(ARID1B):c.2248-35G>A rs3734440 0.46405
NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe) rs1801195 0.46398
NM_000553.6(WRN):c.3138+7G>A rs2737335 0.46283
NM_001365088.1(SLC12A6):c.271+41G>C rs347836 0.46169
NM_001160372.4(TRAPPC9):c.411C>T (p.Asn137=) rs3735803 0.45974
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro) rs11120047 0.45814
NM_006009.4(TUBA1A):c.288A>G (p.Lys96=) rs1056875 0.45696
NM_024596.5(MCPH1):c.2215-19A>G rs2936531 0.45478
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=) rs3747562 0.45408
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775 0.45330
NM_001244008.2(KIF1A):c.991T>C (p.Leu331=) rs1063353 0.45235
NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=) rs10966 0.45223
NM_004525.3(LRP2):c.10503G>A (p.Gln3501=) rs2229265 0.45093
NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile) rs2247870 0.45079
NM_000352.6(ABCC8):c.4120-27T>C rs739689 0.45032
NM_000492.4(CFTR):c.2562T>G (p.Thr854=) rs1042077 0.44737
NM_000553.6(WRN):c.2361G>T (p.Leu787=) rs1800392 0.44630
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg) rs2244492 0.44551
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44536
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=) rs1050162 0.44262
NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857 0.44260
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=) rs1050163 0.44235
NM_014832.5(TBC1D4):c.84C>G (p.Pro28=) rs7327548 0.44024
NM_001048166.1(STIL):c.2615+27A>G rs2742104 0.43900
NM_030665.4(RAI1):c.269G>C (p.Gly90Ala) rs3803763 0.43727
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) rs1131824 0.43499
NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg) rs2306331 0.43394
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312 0.43085
NM_000257.4(MYH7):c.2967T>C (p.Ile989=) rs7157716 0.43030
NM_003355.3(UCP2):c.164C>T (p.Ala55Val) rs660339 0.43008
NM_014714.4(IFT140):c.1968T>C (p.Ser656=) rs8048410 0.42981
NM_001042472.3(ABHD12):c.837C>T (p.Arg279=) rs6107027 0.42961
NM_024809.5(TCTN2):c.891+7G>A rs7313032 0.42667
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=) rs10781542 0.42574
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=) rs10870194 0.42571
NM_000545.8(HNF1A):c.51C>G (p.Leu17=) rs1169289 0.42543
NM_030665.4(RAI1):c.5601T>C (p.Ile1867=) rs3818717 0.42485
NM_004933.3(CDH15):c.1971A>G (p.Gln657=) rs3815615 0.42410
NM_024809.5(TCTN2):c.765-43A>T rs7298831 0.42250
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) rs3027875 0.42119
NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser) rs1217401 0.42071
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725 0.42035
NM_014324.6(AMACR):c.25G>A (p.Val9Met) rs3195676 0.42007
NM_001083961.2(WDR62):c.2147-34G>A rs2301736 0.41985
NM_000834.5(GRIN2B):c.366C>G (p.Pro122=) rs7301328 0.41972
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244 0.41941
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
NM_004525.3(LRP2):c.3054C>A (p.Thr1018=) rs2075249 0.41290
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val) rs1061305 0.40617
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=) rs1044397 0.40553
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=) rs1044396 0.40465
NM_006059.4(LAMC3):c.963C>T (p.Ala321=) rs2275131 0.40359
NM_006772.3(SYNGAP1):c.1713G>A (p.Ser571=) rs411136 0.40227
NM_031407.7(HUWE1):c.2109A>G (p.Ser703=) rs6638360 0.40138
NM_173630.4(RTTN):c.734A>G (p.Lys245Arg) rs17082206 0.40022
NM_003072.5(SMARCA4):c.3168+31C>G rs2075021 0.39914
NM_000383.4(AIRE):c.1197T>C (p.Ala399=) rs1800521 0.39834
NM_133642.5(LARGE1):c.435C>T (p.Ala145=) rs86487 0.39804
NM_000553.6(WRN):c.3138+6C>T rs3024239 0.39769
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859 0.39734
NM_182476.3(COQ6):c.1216G>A (p.Val406Met) rs8500 0.39628
NM_000173.7(GP1BA):c.1322_1344del (p.Ser441fs) rs770089708 0.39537
NM_007254.4(PNKP):c.498+23A>T rs1290649 0.39505
NM_006950.3(SYN1):c.510T>C (p.Asn170=) rs1142636 0.39391
NM_015272.5(RPGRIP1L):c.2959-32G>A rs7203525 0.39281
NM_001003841.3(SLC6A19):c.306T>C (p.Gly102=) rs60992377 0.39132
NM_000834.5(GRIN2B):c.3534C>T (p.His1178=) rs1806191 0.39095
NM_001371279.1(REEP1):c.285G>A (p.Thr95=) rs2276625 0.39011
NM_004544.4(NDUFA10):c.771A>G (p.Gln257=) rs13848 0.38961
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met) rs3207090 0.38895
NM_000384.3(APOB):c.7545C>T (p.Thr2515=) rs693 0.38722
NM_004525.3(LRP2):c.4875T>C (p.Cys1625=) rs2229267 0.38704
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp) rs10941112 0.38660
NM_021956.5(GRIK2):c.2424G>A (p.Glu808=) rs2227283 0.38493
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=) rs5398 0.38373
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) rs13402180 0.38348
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) rs13414203 0.38341
NM_000540.3(RYR1):c.7835+5A>G rs1469695 0.38217
NM_006420.3(ARFGEF2):c.3663T>C (p.Gly1221=) rs2295580 0.38170
NM_017721.5(CC2D1A):c.1281T>C (p.Gly427=) rs10410239 0.38118
NM_015386.3(COG4):c.646C>T (p.Leu216=) rs3762171 0.38086
NM_006059.4(LAMC3):c.4378-4A>G rs4740413 0.38051
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=) rs11675767 0.38033
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) rs730106 0.37791
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) rs1051152 0.37778
NM_002666.5(PLIN1):c.1113T>C (p.Pro371=) rs2304795 0.37380
NM_201525.4(ADGRG1):c.1168-20C>A rs2305309 0.37206
NM_024884.3(L2HGDH):c.1196+34C>T rs12432673 0.37158
NM_000057.4(BLM):c.2555+7T>C rs3815003 0.37072
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala) rs2252755 0.36980
NM_000352.6(ABCC8):c.2117-3C>T rs1799854 0.36733
NM_001098.3(ACO2):c.670C>T (p.Leu224=) rs1799932 0.36650
NM_024809.5(TCTN2):c.1235-28A>G rs12831081 0.36516
NM_000352.6(ABCC8):c.4609-40A>G rs1109591 0.36421
NM_181882.3(PRX):c.2763A>G (p.Ile921Met) rs268673 0.36279
NM_024809.5(TCTN2):c.1393+7C>T rs7298440 0.36136
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700 0.36123
NM_000410.4(HFE):c.340+4T>C rs2071303 0.35994
NM_002739.5(PRKCG):c.567T>C (p.Asn189=) rs3745406 0.35855
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748 0.35806
NM_033337.3(CAV3):c.99C>T (p.Asn33=) rs1008642 0.35756
NM_030665.4(RAI1):c.493C>A (p.Pro165Thr) rs11649804 0.35747
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp) rs1001238 0.35628
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val) rs2042995 0.35566
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val) rs3829746 0.35516
NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr) rs2760118 0.35507
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377 0.35383
NM_198859.4(PRICKLE2):c.259-6A>G rs2306380 0.35289
NM_020921.4(NIN):c.2616C>A (p.Ala872=) rs2073349 0.35221
NM_015631.6(TCTN3):c.603T>A (p.Thr201=) rs10786229 0.35079
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996 0.34979
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=) rs1801318 0.34874
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209 0.34676
NM_024753.5(TTC21B):c.1695C>T (p.Tyr565=) rs6750044 0.34586
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330 0.34583
NM_016553.5(NUP62):c.848G>C (p.Ser283Thr) rs1062798 0.34519
NM_001123385.2(BCOR):c.1692A>G (p.Ala564=) rs6520618 0.34271
NM_001184.4(ATR):c.5208T>C (p.Tyr1736=) rs2227931 0.34166
NM_000162.5(GCK):c.1253+8C>T rs2908274 0.34109
NM_017755.6(NSUN2):c.97-6C>T rs10076470 0.34106
NM_017755.6(NSUN2):c.51G>A (p.Glu17=) rs10062086 0.33934
NM_006059.4(LAMC3):c.3114C>G (p.Leu1038=) rs10901345 0.33677
NM_006059.4(LAMC3):c.3108G>A (p.Gly1036=) rs10901344 0.33663
NM_032119.4(ADGRV1):c.6695A>G (p.Tyr2232Cys) rs10037067 0.33642
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990 0.33516
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951 0.33482
NM_001134407.3(GRIN2A):c.2085G>C (p.Arg695=) rs9806806 0.33435
NM_024596.5(MCPH1):c.23-26G>A rs1550697 0.33312
NM_004525.3(LRP2):c.248A>G (p.Asn83Ser) rs2229263 0.33289
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=) rs10176588 0.33260
NM_006031.6(PCNT):c.8996+45C>A rs2236616 0.33111
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=) rs2229144 0.33092
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=) rs2960340 0.33086
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn) rs1047891 0.33052
NM_012301.4(MAGI2):c.1014G>A (p.Lys338=) rs3735442 0.33029
NM_001931.5(DLAT):c.128C>T (p.Ala43Val) rs2303436 0.32827
NM_003907.3(EIF2B5):c.1759A>G (p.Ile587Val) rs843358 0.32719
NM_003384.3(VRK1):c.705C>T (p.Gly235=) rs2230532 0.32707
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=) rs1053315 0.32659
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys) rs197922 0.32616
NM_006279.5(ST3GAL3):c.209+9925A>G rs37458 0.32581
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146 0.32548
NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu) rs4916685 0.32486
NM_003384.3(VRK1):c.45A>G (p.Ala15=) rs2145635 0.32398
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=) rs2071089 0.32394
NM_181741.4(ORC4):c.233A>G (p.Asn78Ser) rs2307394 0.32301
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn) rs10891314 0.32172
NM_000540.3(RYR1):c.8693-10G>C rs2915958 0.32159
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952 0.32150
NM_022095.4(ZNF335):c.642C>T (p.Ser214=) rs3848719 0.32130
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=) rs3747563 0.32044
NM_014832.5(TBC1D4):c.2384-3C>T rs2297203 0.31705
NM_198904.4(GABRG2):c.588C>T (p.Asn196=) rs211037 0.31659
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=) rs2229760 0.31596
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31596
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31585
NM_001253852.3(AP4B1):c.618-13G>C rs3789613 0.31448
NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro) rs6713162 0.31314
NM_032119.4(ADGRV1):c.5665-23T>C rs4916683 0.31255
NM_032119.4(ADGRV1):c.7206G>A (p.Glu2402=) rs16876822 0.31193
NM_032119.4(ADGRV1):c.7034A>G (p.Asn2345Ser) rs2366926 0.31179
NM_032119.4(ADGRV1):c.6952-10G>A rs10040165 0.31172
NM_006765.4(TUSC3):c.309-6T>C rs1035972 0.31124
NM_181523.3(PIK3R1):c.334+14A>C rs706714 0.31124
NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=) rs706713 0.31073
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683 0.30966
NM_005881.4(BCKDK):c.615G>A (p.Thr205=) rs14235 0.30943
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486 0.30800
NM_001614.5(ACTG1):c.930C>T (p.Ala310=) rs1135989 0.30776
NM_001378452.1(ITPR1):c.6717A>G (p.Thr2239=) rs13079522 0.30736
NM_182476.3(COQ6):c.570T>C (p.His190=) rs3180946 0.30516
NM_000545.8(HNF1A):c.1501+7G>A rs2464195 0.30441
NM_000123.4(ERCC5):c.3310G>C (p.Asp1104His) rs17655 0.30419
NM_018136.5(ASPM):c.8988-42G>A rs41304071 0.30406
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=) rs10170273 0.30371
NM_004525.3(LRP2):c.639C>T (p.Asp213=) rs2229266 0.30270
NM_014714.4(IFT140):c.2253T>C (p.Pro751=) rs2076436 0.30184
NM_000548.5(TSC2):c.5161-10A>C rs1800718 0.30182
NM_004393.6(DAG1):c.2256C>T (p.His752=) rs1801143 0.30176
NM_201384.3(PLEC):c.4413T>C (p.Ala1471=) rs35916068 0.30160
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) rs2229920 0.30148
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=) rs16869042 0.30112
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551 0.30058
NM_201384.3(PLEC):c.5907T>C (p.Ala1969=) rs2857829 0.29968
NM_201384.3(PLEC):c.4045-4A>G rs7002152 0.29962
NM_201384.3(PLEC):c.8495G>A (p.Arg2832His) rs6558407 0.29956
NM_201384.3(PLEC):c.3757-6A>G rs11136333 0.29944
NM_201384.3(PLEC):c.6441G>A (p.Ala2147=) rs7016416 0.29943
NM_201384.3(PLEC):c.3550T>C (p.Leu1184=) rs3135109 0.29936
NM_201384.3(PLEC):c.3746G>A (p.Arg1249Gln) rs11136334 0.29922
NM_201384.3(PLEC):c.4680G>A (p.Ala1560=) rs55836855 0.29922
NM_020822.3(KCNT1):c.1749G>A (p.Ala583=) rs17038714 0.29915
NM_201384.3(PLEC):c.7581A>C (p.Ala2527=) rs11778026 0.29910
NM_201384.3(PLEC):c.6170C>T (p.Ala2057Val) rs7002002 0.29901
NM_201384.3(PLEC):c.8253C>T (p.Asn2751=) rs11777402 0.29844
NM_001164508.2(NEB):c.6807+6T>G rs10930723 0.29833
NM_001291867.2(NHS):c.4018T>C (p.Phe1340Leu) rs3747295 0.29823
NM_201384.3(PLEC):c.4455T>G (p.Ala1485=) rs56117011 0.29823
NM_201384.3(PLEC):c.5928G>A (p.Ala1976=) rs1140522 0.29794
NM_201384.3(PLEC):c.10665G>A (p.Thr3555=) rs6984820 0.29792
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=) rs2252748 0.29787
NM_021956.5(GRIK2):c.2312-9C>T rs2227281 0.29507
NM_004933.3(CDH15):c.264T>C (p.Asp88=) rs59865771 0.29473
NM_006059.4(LAMC3):c.521C>A (p.Pro174His) rs2275137 0.29468
NM_001321142.2(CIDEC):c.96G>T (p.Leu32=) rs456168 0.29400
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081 0.29390
NM_020717.5(SHROOM4):c.3468A>G (p.Glu1156=) rs3747282 0.29345
NM_020365.5(EIF2B3):c.243C>T (p.Asp81=) rs11556200 0.29252
NM_201384.3(PLEC):c.1095T>C (p.Asp365=) rs11783799 0.29245
NM_201384.3(PLEC):c.4476G>A (p.Ala1492=) rs55646585 0.29155
NM_201384.3(PLEC):c.1511C>T (p.Ala504Val) rs11136336 0.29153
NM_001098.3(ACO2):c.192A>C (p.Thr64=) rs137831 0.29094
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) rs2627043 0.29094
NM_139343.3(BIN1):c.486T>C (p.Thr162=) rs1060743 0.29063
NM_005591.4(MRE11):c.403-6G>A rs535801 0.28996
NM_006214.4(PHYH):c.636A>G (p.Thr212=) rs473407 0.28866
NM_020921.4(NIN):c.3090A>T (p.Ser1030=) rs2073348 0.28854
NM_001083961.2(WDR62):c.700-18C>T rs10423651 0.28763
NM_000553.6(WRN):c.4083C>T (p.Ser1361=) rs1801196 0.28751
NM_006059.4(LAMC3):c.4298C>T (p.Thr1433Met) rs7024108 0.28739
NM_001142633.3(PIK3R5):c.933A>G (p.Leu311=) rs11650737 0.28596
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565 0.28594
NM_001142633.3(PIK3R5):c.1011C>T (p.Asp337=) rs16957702 0.28549
NM_025000.4(DCAF17):c.150C>T (p.Val50=) rs6751956 0.28531
NM_006059.4(LAMC3):c.1564C>T (p.Pro522Ser) rs869457 0.28273
NM_032531.4(KIRREL3):c.346A>C (p.Arg116=) rs12269776 0.28200
NM_003611.3(OFD1):c.1129+16A>G rs3815049 0.28069
NM_004836.7(EIF2AK3):c.1791A>G (p.Gln597=) rs1805164 0.28054
NM_001134407.3(GRIN2A):c.1275G>A (p.Leu425=) rs2229193 0.27838
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806 0.27837
NM_032119.4(ADGRV1):c.11599G>A (p.Glu3867Lys) rs10062026 0.27574
NM_014630.3(ZNF592):c.2777G>A (p.Ser926Asn) rs8182086 0.27524
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.27385
NM_152783.5(D2HGDH):c.164G>A (p.Arg55Gln) rs77940364 0.27302
NM_001163809.2(WDR81):c.2331A>G (p.Leu777=) rs7221974 0.27161
NM_152783.5(D2HGDH):c.490+40T>C rs78147778 0.27008
NM_006031.6(PCNT):c.9273+22T>C rs2051190 0.26843
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=) rs2306877 0.26698
NM_004168.4(SDHA):c.1932G>A (p.Val644=) rs6961 0.26598
NM_001940.4(ATN1):c.2430C>A (p.Arg810=) rs7969685 0.26588
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321 0.26575
NM_000834.5(GRIN2B):c.1665C>T (p.Ser555=) rs1805482 0.26553
NM_001378615.1(CC2D2A):c.3595-22C>T rs4280724 0.26375
NM_198994.3(TGM6):c.1476G>A (p.Lys492=) rs2295077 0.26375
NM_004247.4(EFTUD2):c.994+6C>T rs11654183 0.26275
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023 0.26237
NM_182961.4(SYNE1):c.17346+7G>A rs9383985 0.26223
NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196 0.26206
NM_000545.8(HNF1A):c.1375C>T (p.Leu459=) rs2259820 0.26141
NM_004168.4(SDHA):c.1038C>G (p.Ser346=) rs1041949 0.26134
NM_001166114.2(PNPLA6):c.2094G>A (p.Pro698=) rs8107538 0.26133
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_016219.5(MAN1B1):c.1765-5C>A rs12115325 0.25976
NM_152783.5(D2HGDH):c.1012G>A (p.Val338Ile) rs1106639 0.25945
NM_020361.5(CPA6):c.133T>C (p.Phe45Leu) rs10957393 0.25907
NM_006031.6(PCNT):c.1207+34A>T rs35210219 0.25479
NM_001807.6(CEL):c.1710C>T (p.Pro570=) rs488087 0.25447
NM_198525.3(KIF7):c.3517+6C>T rs74251725 0.25419
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_002666.5(PLIN1):c.1119C>T (p.Val373=) rs2304796 0.25348
NM_004525.3(LRP2):c.8614G>A (p.Ala2872Thr) rs2228171 0.25207
NM_004168.4(SDHA):c.619A>C (p.Arg207=) rs6555055 0.25190
NM_004168.4(SDHA):c.1752A>G (p.Ala584=) rs13070 0.25187
NM_004168.4(SDHA):c.684T>C (p.Asn228=) rs2115272 0.25174
NM_004168.4(SDHA):c.309A>G (p.Ala103=) rs1139424 0.25161
NM_004168.4(SDHA):c.1680G>A (p.Thr560=) rs1139449 0.25156
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=) rs2288211 0.24726
NM_003070.5(SMARCA2):c.3672G>A (p.Glu1224=) rs6601 0.24705
NM_001142633.3(PIK3R5):c.1101G>A (p.Ser367=) rs9915880 0.24687
NM_015192.4(PLCB1):c.2565G>A (p.Ala855=) rs2076413 0.24634
NM_018109.4(MTPAP):c.484C>T (p.Arg162Cys) rs1047991 0.24628
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=) rs1799801 0.24619
NM_003383.5(VLDLR):c.2416+8G>T rs6145 0.24562
NM_018082.6(POLR3B):c.3396T>C (p.Asn1132=) rs13561 0.24486
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=) rs2291862 0.24351
NM_000533.5(PLP1):c.609T>C (p.Asp203=) rs1126707 0.24238
NM_021956.5(GRIK2):c.2085+10G>A rs2243355 0.24093
NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=) rs17720698 0.24032
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met) rs3731746 0.24029
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=) rs12402052 0.24010
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe) rs16868972 0.23938
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838 0.23912
NM_015087.5(SPART):c.1629A>G (p.Ala543=) rs2274293 0.23882
NM_033337.3(CAV3):c.123T>C (p.Phe41=) rs13087941 0.23875
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) rs11121552 0.23676
NM_007327.4(GRIN1):c.789A>G (p.Pro263=) rs6293 0.23665
NM_024757.5(EHMT1):c.444T>C (p.Pro148=) rs3812497 0.23632
NM_007327.4(GRIN1):c.855G>A (p.Val285=) rs1126442 0.23587
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530 0.23571
NM_173560.4(RFX6):c.1914T>C (p.Gly638=) rs611349 0.23550
NM_017866.6(TMEM70):c.777C>G (p.Asp259Glu) rs1053077 0.23539
NM_000834.5(GRIN2B):c.2664C>T (p.Thr888=) rs1806201 0.23527
NM_017866.6(TMEM70):c.748A>G (p.Thr250Ala) rs1053079 0.23525
NM_182961.4(SYNE1):c.8384C>T (p.Ala2795Val) rs214950 0.23524
NM_173560.4(RFX6):c.1542T>C (p.Asn514=) rs7770158 0.23461
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136 0.23407
NM_000540.3(RYR1):c.7614+10C>G rs2960323 0.23284
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
NM_016529.6(ATP8A2):c.144A>C (p.Gly48=) rs7317185 0.23234
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile) rs5400 0.23124
NM_173560.4(RFX6):c.1383T>C (p.Thr461=) rs7764347 0.23095
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=) rs2070825 0.22980
NM_019892.6(INPP5E):c.1794G>T (p.Gly598=) rs33982662 0.22912
NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile) rs3730089 0.22679
NM_003194.5(TBP):c.228G>A (p.Gln76=) rs112083427 0.22669
NM_001160372.4(TRAPPC9):c.1692C>T (p.Asn564=) rs12549048 0.22639
NM_001358921.2(COQ2):c.840C>T (p.Ser280=) rs1129617 0.22636
NM_018082.6(POLR3B):c.2055T>C (p.Tyr685=) rs10861607 0.22605
NM_004836.7(EIF2AK3):c.1763+6A>T rs6750998 0.22566
NM_001254.4(CDC6):c.1321G>A (p.Val441Ile) rs13706 0.22496
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) rs1346044 0.22492
NM_005120.3(MED12):c.736-8A>C rs62609586 0.22423
NM_014832.5(TBC1D4):c.498+9G>A rs9573565 0.22396
NM_014855.3(AP5Z1):c.759C>T (p.Ser253=) rs17135121 0.22358
NM_016013.4(NDUFAF1):c.26G>A (p.Arg9His) rs1899 0.22292
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902 0.22262
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503 0.22240
NM_001163809.2(WDR81):c.5127G>A (p.Pro1709=) rs8065251 0.22229
NM_004836.7(EIF2AK3):c.407C>G (p.Ser136Cys) rs867529 0.22211
NM_001244008.2(KIF1A):c.3641-8C>T rs56024577 0.22160
NM_001130438.3(SPTAN1):c.5479-41A>C rs7864187 0.22153
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619 0.21992
NM_018294.6(CWF19L1):c.479G>A (p.Cys160Tyr) rs2270962 0.21966
NM_000352.6(ABCC8):c.2292-34T>C rs1800852 0.21889
NM_213622.4(STAMBP):c.1218+12T>C rs1025424 0.21855
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768 0.21785
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929 0.21755
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala) rs17078605 0.21747
NM_014363.6(SACS):c.12304T>C (p.Leu4102=) rs2737699 0.21736
NM_001163809.2(WDR81):c.5640C>T (p.Ser1880=) rs8077638 0.21643
NM_000383.4(AIRE):c.681C>T (p.Gly227=) rs1055311 0.21613
NM_022041.4(GAN):c.1293C>T (p.Tyr431=) rs2608555 0.21491
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His) rs36051007 0.21486
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr) rs12463674 0.21485
NM_001371623.1(TCOF1):c.4172C>T (p.Ala1391Val) rs15251 0.21165
NM_022095.4(ZNF335):c.1103-7G>A rs3746512 0.20987
NM_006059.4(LAMC3):c.4231-10C>T rs4740411 0.20977
NM_018026.4(PACS1):c.2293+6G>C rs476551 0.20949
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_006059.4(LAMC3):c.4376G>A (p.Arg1459Gln) rs4740412 0.20674
NM_001100.4(ACTA1):c.130-10G>C rs41271481 0.20670
NM_004247.4(EFTUD2):c.762T>C (p.Thr254=) rs2289674 0.20662
NM_005257.6(GATA6):c.1620+7A>G rs3764962 0.20625
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn) rs8179065 0.20556
NM_006059.4(LAMC3):c.1218G>A (p.Thr406=) rs2293518 0.20549
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627 0.20422
NM_014141.6(CNTNAP2):c.1777+10A>G rs2286127 0.20355
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile) rs34577613 0.20341
NM_032119.4(ADGRV1):c.8538T>G (p.Leu2846=) rs6880570 0.20255
NM_002465.4(MYBPC1):c.556+10C>G rs61935677 0.20237
NM_025009.5(CEP135):c.2305A>C (p.Ile769Leu) rs3214045 0.20167
NM_020921.4(NIN):c.3331C>G (p.Pro1111Ala) rs2236316 0.20068
NM_007347.5(AP4E1):c.3387G>A (p.Gln1129=) rs3825798 0.19899
NM_025000.4(DCAF17):c.999A>G (p.Gln333=) rs3731983 0.19825
NM_025000.4(DCAF17):c.1267-7C>T rs3731981 0.19769
NM_017757.3(ZNF407):c.1248T>C (p.Pro416=) rs3794941 0.19620
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527 0.19565
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209 0.19521
NM_020921.4(NIN):c.1974T>C (p.His658=) rs4901055 0.19347
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) rs2071133 0.19260
NM_006086.4(TUBB3):c.58-49C>T rs28593634 0.19243
NM_004525.3(LRP2):c.5100C>T (p.Ser1700=) rs2302694 0.19156
NM_014714.4(IFT140):c.2919C>T (p.Ala973=) rs2235640 0.19119
NM_006086.4(TUBB3):c.58-22C>T rs2302897 0.19080
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526 0.19072
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396 0.19057
NM_017721.5(CC2D1A):c.2402C>T (p.Thr801Met) rs2305777 0.19038
NM_018026.4(PACS1):c.1993+8C>T rs2236651 0.18987
NM_018249.6(CDK5RAP2):c.2274T>C (p.Asp758=) rs2501727 0.18906
NM_020987.5(ANK3):c.8895T>C (p.Ala2965=) rs10740006 0.18901
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529 0.18890
NM_015915.5(ATL1):c.84A>G (p.Pro28=) rs35014209 0.18809
NM_001003841.3(SLC6A19):c.754G>A (p.Val252Ile) rs7732589 0.18781
NM_020987.5(ANK3):c.9368A>G (p.Lys3123Arg) rs10821668 0.18742
NM_006031.6(PCNT):c.5994+38T>C rs73907502 0.18733
NM_006031.6(PCNT):c.5994+48T>G rs73379348 0.18721
NM_018100.4(EFHC1):c.573+10A>G rs9349626 0.18650
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179 0.18595
NM_006031.6(PCNT):c.7913+40C>T rs1023161 0.18569
NM_006031.6(PCNT):c.7494+48G>A rs55937012 0.18558
NM_000383.4(AIRE):c.588C>T (p.Ser196=) rs878081 0.18544
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125 0.18359
NM_005670.4(EPM2A):c.402G>A (p.Gly134=) rs35230590 0.18342
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_001371623.1(TCOF1):c.2660T>C (p.Val887Ala) rs7713638 0.18279
NM_014141.6(CNTNAP2):c.3248-4A>G rs3779031 0.18203
NM_001371623.1(TCOF1):c.1842A>G (p.Ser614=) rs2071239 0.18176
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile) rs6962 0.18133
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_002894.3(RBBP8):c.2115G>A (p.Lys705=) rs17852769 0.18089
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964 0.18036
NM_015192.4(PLCB1):c.102C>T (p.Asp34=) rs16994453 0.18027
NM_175914.5(HNF4A):c.50-5C>T rs745975 0.17964
NM_152783.5(D2HGDH):c.1082C>T (p.Ala361Val) rs1105273 0.17904
NM_015080.4(NRXN2):c.242T>A (p.Leu81Gln) rs12273892 0.17763
NM_001371623.1(TCOF1):c.1578C>T (p.Pro526=) rs2071238 0.17747
NM_000240.4(MAOA):c.385A>C (p.Arg129=) rs1800464 0.17743
NM_018344.5(SLC29A3):c.-63C>T rs72542481 0.17617
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528 0.17598
NM_001384732.1(CPLANE1):c.6098T>G (p.Phe2033Cys) rs10076911 0.17594
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933 0.17570
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile) rs35813871 0.17564
NM_015214.3(DDHD2):c.557C>T (p.Thr186Met) rs2306899 0.17541
NM_000742.4(CHRNA2):c.351C>T (p.Asp117=) rs2565061 0.17492
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=) rs33988153 0.17490
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=) rs16030 0.17482
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=) rs34592169 0.17471
NM_001330078.2(NRXN1):c.511C>T (p.Leu171=) rs1045874 0.17452
NM_020987.5(ANK3):c.1218T>C (p.Ile406=) rs2297979 0.17447
NM_005045.4(RELN):c.10074A>G (p.Ala3358=) rs1062831 0.17444
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr) rs3810950 0.17408
NM_017866.6(TMEM70):c.100G>C (p.Ala34Pro) rs8075 0.17369
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218 0.17165
NM_005045.4(RELN):c.7887T>C (p.Pro2629=) rs56345626 0.17070
NM_003070.5(SMARCA2):c.4638C>G (p.Asp1546Glu) rs2296212 0.17040
NM_001123385.2(BCOR):c.4977-4G>T rs5963725 0.16998
NM_018249.6(CDK5RAP2):c.1483-29T>G rs2490594 0.16966
NM_002156.5(HSPD1):c.69T>C (p.Thr23=) rs1050347 0.16721
NM_000834.5(GRIN2B):c.4197T>C (p.His1399=) rs1805247 0.16667
NM_000742.4(CHRNA2):c.65C>T (p.Thr22Ile) rs2472553 0.16614
NM_001166114.2(PNPLA6):c.1207G>C (p.Ala403Pro) rs17854645 0.16605
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=) rs6856 0.16571
NM_022095.4(ZNF335):c.3522A>T (p.Pro1174=) rs16990951 0.16529
NM_004525.3(LRP2):c.5859A>G (p.Arg1953=) rs11886219 0.16510
NM_173630.4(RTTN):c.6144A>G (p.Val2048=) rs2304378 0.16509
NM_001267550.2(TTN):c.98098+9T>A rs2288325 0.16490
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His) rs12693166 0.16435
NM_000540.3(RYR1):c.7863C>T (p.His2621=) rs2229142 0.16420
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_018136.5(ASPM):c.2174-20T>C rs4915344 0.16253
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser) rs12693164 0.16204
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) rs1799858 0.16150
NM_001365088.1(SLC12A6):c.1333+20G>T rs2290941 0.16150
NM_001365088.1(SLC12A6):c.2803-25T>C rs17817806 0.16133
NM_017755.6(NSUN2):c.1749G>A (p.Thr583=) rs13181449 0.16076
NM_001253852.3(AP4B1):c.576C>T (p.Gly192=) rs17464525 0.16017
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=) rs3027878 0.16009
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) rs2071134 0.15977
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15974
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.15932
NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala) rs506028 0.15920
NM_001083962.2(TCF4):c.305-165C>T rs17522826 0.15868
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala) rs16866465 0.15861
NM_001371623.1(TCOF1):c.3530C>G (p.Pro1177Arg) rs1136103 0.15799
NM_001163809.2(WDR81):c.1716C>T (p.His572=) rs80035274 0.15722
NM_001378615.1(CC2D2A):c.124-6C>T rs1861049 0.15686
NM_000340.2(SLC2A2):c.594G>A (p.Thr198=) rs5404 0.15665
NM_032119.4(ADGRV1):c.13599A>G (p.Thr4533=) rs17554631 0.15645
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215 0.15549
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147 0.15526
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934 0.15517
NM_001384732.1(CPLANE1):c.4080+27C>T rs78164677 0.15457
NM_032119.4(ADGRV1):c.3141A>G (p.Ala1047=) rs950692 0.15398
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_004525.3(LRP2):c.11601T>C (p.Cys3867=) rs2229268 0.15380
NM_025099.6(CTC1):c.990C>T (p.Asp330=) rs74506939 0.15238
NM_004933.3(CDH15):c.1023G>A (p.Ser341=) rs72819366 0.15210
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350 0.15152
NM_003383.5(VLDLR):c.1187-3C>T rs11789583 0.15129
NM_001384732.1(CPLANE1):c.5901-3T>C rs10805625 0.15103
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser) rs28938169 0.15001
NM_133259.4(LRPPRC):c.1068A>G (p.Gln356=) rs4953042 0.14931
NM_024757.5(EHMT1):c.1044G>A (p.Ser348=) rs1129767 0.14787
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870 0.14754
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp) rs16869032 0.14695
NM_201384.3(PLEC):c.3757-9A>G rs57461687 0.14687
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=) rs1805036 0.14682
NM_182961.4(SYNE1):c.17745C>T (p.His5915=) rs12664753 0.14557
NM_018129.4(PNPO):c.165C>T (p.Ser55=) rs11079804 0.14534
NM_006059.4(LAMC3):c.3507C>T (p.Thr1169=) rs3818800 0.14515
NM_017755.6(NSUN2):c.2193C>T (p.Asp731=) rs3822434 0.14485
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His) rs3731749 0.14445
NM_014846.4(WASHC5):c.3291G>A (p.Ala1097=) rs11542889 0.14383
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128 0.14353
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14328
NM_001999.4(FBN2):c.111G>A (p.Pro37=) rs55715053 0.14249
NM_015346.4(ZFYVE26):c.2559G>A (p.Leu853=) rs7143196 0.14152
NM_024757.5(EHMT1):c.3375-9A>C rs73578877 0.14146
NM_003619.4(PRSS12):c.1816G>T (p.Ala606Ser) rs28661939 0.14124
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025 0.14118
NM_012233.3(RAB3GAP1):c.1793A>G (p.Asn598Ser) rs10445686 0.14088
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717 0.14031
NM_001184.4(ATR):c.3726-47A>G rs73240314 0.13934
NM_003383.5(VLDLR):c.2067A>G (p.Gln689=) rs6148 0.13882
NM_000545.8(HNF1A):c.1545G>A (p.Thr515=) rs55834942 0.13864
NM_206937.2(LIG4):c.1704T>C (p.Asp568=) rs1805386 0.13864
NM_030928.4(CDT1):c.549A>G (p.Gly183=) rs1834065 0.13858
NM_139343.3(BIN1):c.957C>T (p.Ala319=) rs2276579 0.13837
NM_001378615.1(CC2D2A):c.2182-24C>T rs2041673 0.13698
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu) rs16866406 0.13367
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569 0.13356
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023 0.13336
NM_182961.4(SYNE1):c.22671C>T (p.Ile7557=) rs3798756 0.13297
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747 0.13294
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426 0.13213
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899 0.13133
NM_006420.3(ARFGEF2):c.4131C>T (p.Ile1377=) rs2281582 0.13125
NM_181332.3(NLGN4X):c.933C>T (p.Thr311=) rs7049300 0.13090
NM_016013.4(NDUFAF1):c.941C>G (p.Ala314Gly) rs12900702 0.12962
NM_000548.5(TSC2):c.482-3C>T rs1800720 0.12927
NM_006031.6(PCNT):c.640-38T>G rs2839216 0.12924
NM_001378615.1(CC2D2A):c.2830-38G>T rs35309200 0.12892
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889 0.12866
NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala) rs2292954 0.12849
NM_006493.4(CLN5):c.-144C>T rs77416795 0.12832
NM_003119.4(SPG7):c.2063G>A (p.Arg688Gln) rs12960 0.12801
NM_001128164.2(ATXN1):c.474A>G (p.Ala158=) rs2072736 0.12678
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) rs10805890 0.12644
NM_181882.3(PRX):c.3248C>G (p.Pro1083Arg) rs3745202 0.12427
NM_181882.3(PRX):c.306C>T (p.Thr102=) rs744389 0.12409
NM_000540.3(RYR1):c.10687-7C>T rs2960354 0.12378
NM_182961.4(SYNE1):c.12276C>T (p.Leu4092=) rs71575926 0.12377
NM_020987.5(ANK3):c.4201-3T>C rs2393595 0.12356
NM_006757.4(TNNT3):c.762C>T (p.Gly254=) rs4727 0.12344
NM_004525.3(LRP2):c.7626C>G (p.Arg2542=) rs13397109 0.12249
NM_001386140.1(MTTP):c.522T>C (p.Cys174=) rs982424 0.12209
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_020320.5(RARS2):c.1704A>G (p.Lys568=) rs8802 0.12189
NM_054012.4(ASS1):c.501C>T (p.His167=) rs10901072 0.12154
NM_207346.3(TSEN54):c.370-19C>A rs56895494 0.12137
NM_133433.4(NIPBL):c.3575-17A>G rs78827246 0.12109
NM_005619.5(RTN2):c.96T>C (p.Ser32=) rs10401270 0.12040
NM_001377299.1(NDUFS2):c.1290C>T (p.Ala430=) rs1136207 0.11971
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=) rs16016 0.11927
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758 0.11920
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg) rs6468694 0.11916
NM_001849.4(COL6A2):c.1609-10C>T rs17357592 0.11879
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022 0.11855
NM_001698.3(AUH):c.483A>C (p.Ile161=) rs7874056 0.11827
NM_001368397.1(FRMPD4):c.1401C>G (p.Val467=) rs6641078 0.11823
NM_006031.6(PCNT):c.3465-40C>T rs7279052 0.11767
NM_015166.4(MLC1):c.895-9C>T rs11568185 0.11704
NM_002547.3(OPHN1):c.702+29G>A rs3788859 0.11700
NM_005765.3(ATP6AP2):c.765T>C (p.Tyr255=) rs7691 0.11555
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met) rs747122 0.11550
NM_017757.3(ZNF407):c.1534G>A (p.Gly512Arg) rs7227263 0.11518
NM_032119.4(ADGRV1):c.18741G>A (p.Gly6247=) rs13158963 0.11513
NM_017757.3(ZNF407):c.1263C>T (p.Leu421=) rs17817969 0.11505
NM_030665.4(RAI1):c.4311T>C (p.Pro1437=) rs4925112 0.11504
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552 0.11428
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg) rs77595156 0.11421
NM_000431.4(MVK):c.155G>A (p.Ser52Asn) rs7957619 0.11415
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347 0.11354
NM_020361.5(CPA6):c.746A>G (p.Asn249Ser) rs17343819 0.11318
NM_021074.5(NDUFV2):c.201A>T (p.Val67=) rs41274300 0.11303
NM_015080.4(NRXN2):c.3327C>T (p.Gly1109=) rs3825074 0.11290
NM_014324.6(AMACR):c.717G>T (p.Gln239His) rs34677 0.11264
NM_182961.4(SYNE1):c.24502G>T (p.Ala8168Ser) rs17082236 0.11250
NM_001194998.2(CEP152):c.87+26A>G rs72739872 0.11222
NM_012301.4(MAGI2):c.2784T>C (p.Asn928=) rs1009524 0.11193
NM_030928.4(CDT1):c.243T>C (p.Ser81=) rs475667 0.11192
NM_138711.6(PPARG):c.1341C>T (p.His447=) rs3856806 0.11181
NM_004268.5(MED17):c.1092G>A (p.Pro364=) rs34057693 0.11178
NM_015166.4(MLC1):c.597A>G (p.Ser199=) rs6010164 0.11147
NM_015166.4(MLC1):c.594C>T (p.Tyr198=) rs6010165 0.11145
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320 0.10935
NM_015166.4(MLC1):c.978C>T (p.Cys326=) rs11568186 0.10918
NM_015166.4(MLC1):c.996T>C (p.Ser332=) rs11568187 0.10904
NM_198586.3(NHLRC1):c.312T>C (p.His104=) rs115931931 0.10897
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119 0.10881
NM_000748.3(CHRNB2):c.210+9A>G rs3926124 0.10829
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_005055.5(RAPSN):c.855G>A (p.Gln285=) rs45603036 0.10742
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=) rs472294 0.10691
NM_001160372.4(TRAPPC9):c.2292C>T (p.Gly764=) rs11166965 0.10684
NM_001160372.4(TRAPPC9):c.2431+7G>A rs11166964 0.10663
NM_001386140.1(MTTP):c.969T>C (p.Ala323=) rs17533489 0.10642
NM_014141.6(CNTNAP2):c.2256-6A>T rs10240482 0.10641
NM_018249.6(CDK5RAP2):c.5578+48C>T rs10984902 0.10631
NM_004369.4(COL6A3):c.6945C>T (p.Phe2315=) rs2646265 0.10608
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287 0.10581
NM_012210.4(TRIM32):c.1254G>A (p.Val418=) rs1661300 0.10569
NM_001184.4(ATR):c.1885+39T>C rs73240318 0.10546
NM_000383.4(AIRE):c.1095+6G>A rs1800525 0.10544
NM_024757.5(EHMT1):c.3000C>T (p.Pro1000=) rs35943616 0.10540
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=) rs2646258 0.10531
NM_024589.3(ROGDI):c.414G>A (p.Thr138=) rs11553876 0.10521
NM_001254.4(CDC6):c.438T>C (p.Cys146=) rs1130199 0.10516
NM_002024.6(FMR1):c.414G>A (p.Arg138=) rs25707 0.10515
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val) rs3743601 0.10494
NM_001384732.1(CPLANE1):c.5381C>T (p.Pro1794Leu) rs75589774 0.10422
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys) rs16866538 0.10360
NM_004168.4(SDHA):c.1170C>T (p.Phe390=) rs35277230 0.10356
NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met) rs2295190 0.10350
NM_019892.6(INPP5E):c.972A>G (p.Pro324=) rs10870199 0.10324
NM_003283.6(TNNT1):c.129-9T>G rs67795913 0.10318
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=) rs2229147 0.10248
NM_006059.4(LAMC3):c.75C>T (p.Cys25=) rs13286358 0.10217
NM_001164508.2(NEB):c.2944-9G>A rs13427102 0.10205
NM_015631.6(TCTN3):c.193A>C (p.Thr65Pro) rs11553577 0.10199
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_001378615.1(CC2D2A):c.-19+37G>C rs6819598 0.10157
NM_005045.4(RELN):c.2989C>G (p.Leu997Val) rs362691 0.10133
NM_017721.5(CC2D1A):c.2716G>A (p.Ala906Thr) rs11669628 0.10133
NM_014795.4(ZEB2):c.917-21T>C rs35213774 0.10114
NM_020921.4(NIN):c.5800C>G (p.Gln1934Glu) rs2295847 0.10087
NM_015166.4(MLC1):c.512G>T (p.Cys171Phe) rs6010260 0.10037
NM_004369.4(COL6A3):c.9213C>T (p.His3071=) rs2270671 0.10029
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986 0.09986
NM_001146262.4(SYT14):c.1419T>C (p.Tyr473=) rs17188183 0.09972
NM_001130987.2(DYSF):c.951+4T>C rs11903960 0.09951
NM_015215.4(CAMTA1):c.981C>T (p.Asn327=) rs3737906 0.09941
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013 0.09896
NM_001267550.2(TTN):c.68217T>C (p.His22739=) rs10497517 0.09829
NM_015215.4(CAMTA1):c.3531C>G (p.Asn1177Lys) rs41278952 0.09746
NM_201384.3(PLEC):c.9777T>A (p.Ser3259=) rs34644439 0.09690
NM_001378615.1(CC2D2A):c.2003+19C>T rs17476642 0.09677
NM_015426.5(POC1A):c.18+10G>A rs114209632 0.09677
NM_005045.4(RELN):c.1776A>G (p.Glu592=) rs2072403 0.09661
NM_022095.4(ZNF335):c.3384T>C (p.Pro1128=) rs3746503 0.09613
NM_012156.2(EPB41L1):c.1338T>C (p.His446=) rs2295568 0.09605
NM_182961.4(SYNE1):c.8177+9C>T rs56877632 0.09596
NM_001371623.1(TCOF1):c.1761G>T (p.Gly587=) rs7701163 0.09554
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496 0.09551
NM_016035.5(COQ4):c.318G>A (p.Ser106=) rs2270203 0.09525
NM_017721.5(CC2D1A):c.252G>A (p.Pro84=) rs7250180 0.09465
NM_015192.4(PLCB1):c.1251-4T>G rs2076689 0.09450
NM_006772.3(SYNGAP1):c.1851G>A (p.Glu617=) rs75579703 0.09434
NM_015166.4(MLC1):c.1031A>G (p.Asn344Ser) rs11568188 0.09405
NM_000744.7(CHRNA4):c.189C>T (p.Leu63=) rs2273506 0.09394
NM_001321142.2(CIDEC):c.33C>G (p.Leu11=) rs17851444 0.09372
NM_030665.4(RAI1):c.4530C>T (p.Pro1510=) rs35686634 0.09361
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) rs11479 0.09354
NM_014832.5(TBC1D4):c.606C>T (p.Phe202=) rs17254379 0.09341
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala) rs7833870 0.09284
NM_000702.4(ATP1A2):c.2259C>T (p.Ala753=) rs17846715 0.09246
NM_001367721.1(CASK):c.1034-6C>T rs73470569 0.09241
NM_004525.3(LRP2):c.2376T>C (p.Asp792=) rs33954745 0.09210
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met) rs2306942 0.09135
NM_020320.5(RARS2):c.872A>G (p.Lys291Arg) rs17850652 0.09110
NM_018249.6(CDK5RAP2):c.4041G>A (p.Leu1347=) rs6478475 0.09053
NM_021023.6(CFHR3):c.721C>T (p.Pro241Ser) rs138675433 0.09012
NM_025243.4(SLC19A3):c.1049T>C (p.Val350Ala) rs34507036 0.09001
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657 0.08930
NM_001160372.4(TRAPPC9):c.399T>C (p.Ala133=) rs61739560 0.08885
NM_001191061.2(SLC25A22):c.293+27G>A rs79478359 0.08883
NM_001160372.4(TRAPPC9):c.555G>A (p.Lys185=) rs57593250 0.08881
NM_003597.5(KLF11):c.185A>G (p.Gln62Arg) rs35927125 0.08880
NM_182914.3(SYNE2):c.1721T>C (p.Ile574Thr) rs9944035 0.08879
NM_001160372.4(TRAPPC9):c.357G>A (p.Gly119=) rs34457678 0.08878
NM_001365951.3(KIF1B):c.4299A>G (p.Pro1433=) rs12125492 0.08850
NM_000079.4(CHRNA1):c.960C>T (p.His320=) rs2229957 0.08849
NM_001371623.1(TCOF1):c.3604-3C>T rs11743855 0.08821
NM_138711.6(PPARG):c.-8-28078C>G rs1801282 0.08816
NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys) rs34312154 0.08810
NM_182914.3(SYNE2):c.12001T>C (p.Trp4001Arg) rs2792205 0.08782
NM_182914.3(SYNE2):c.12002G>A (p.Trp4001Ter) rs2781377 0.08740
NM_005271.5(GLUD1):c.942A>G (p.Leu314=) rs9421572 0.08685
NM_001368397.1(FRMPD4):c.2007T>C (p.Leu669=) rs67823099 0.08669
NM_153033.5(KCTD7):c.267G>A (p.Thr89=) rs3764904 0.08655
NM_001182.5(ALDH7A1):c.1315A>C (p.Lys439Gln) rs12514417 0.08598
NM_201384.3(PLEC):c.12561C>T (p.Asp4187=) rs11998271 0.08588
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640 0.08558
NM_014363.6(SACS):c.1656A>G (p.Leu552=) rs1536365 0.08543
NM_213622.4(STAMBP):c.1218+20A>G rs2303987 0.08472
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125 0.08466
NM_033337.3(CAV3):c.27C>T (p.Leu9=) rs1974763 0.08452
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039 0.08387
NM_001378969.1(KCND3):c.264C>T (p.Pro88=) rs17221819 0.08351
NM_001267550.2(TTN):c.29153T>C (p.Ile9718Thr) rs4893852 0.08349
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_014714.4(IFT140):c.1192G>A (p.Val398Ile) rs34762152 0.08326
NM_001164508.2(NEB):c.10707G>A (p.Lys3569=) rs6717213 0.08304
NM_198576.4(AGRN):c.5358T>C (p.Gly1786=) rs17160781 0.08292
NM_001077418.3(TMEM231):c.813G>A (p.Val271=) rs2242406 0.08287
NM_001163809.2(WDR81):c.3831C>T (p.Ala1277=) rs12150338 0.08258
NM_182476.3(COQ6):c.1016A>T (p.Asp339Val) rs2074930 0.08198
NM_001267550.2(TTN):c.96158T>C (p.Ile32053Thr) rs62621236 0.08189
NM_000834.5(GRIN2B):c.2514C>T (p.Cys838=) rs3026160 0.08178
NM_003194.5(TBP):c.216A>G (p.Gln72=) rs55736770 0.08146
NM_001374828.1(ARID1B):c.3235+38C>T rs9384530 0.08126
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=) rs61741041 0.08115
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile) rs7167216 0.08093
NM_001371596.2(MFSD8):c.1268C>T (p.Ala423Val) rs3733319 0.08088
NM_001160372.4(TRAPPC9):c.2799= (p.Gly933=) rs2614718 0.08065
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=) rs16006 0.08064
NM_006946.4(SPTBN2):c.585C>T (p.Asn195=) rs34775878 0.08024
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626 0.08017
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) rs1266787 0.07947
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser) rs73989521 0.07946
NM_017668.3(NDE1):c.948-53G>A rs7193920 0.07945
NM_014832.5(TBC1D4):c.3440C>T (p.Thr1147Met) rs9600455 0.07900
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His) rs11549936 0.07892
NM_000553.6(WRN):c.1577-3C>A rs3087409 0.07869
NM_001174150.2(ARL13B):c.1043C>G (p.Thr348Ser) rs33944211 0.07857
NM_006493.4(CLN5):c.-76A>G rs7987664 0.07840
NM_001267550.2(TTN):c.26681C>T (p.Pro8894Leu) rs13398235 0.07839
NM_001267550.2(TTN):c.106275G>C (p.Gly35425=) rs56207956 0.07828
NM_000553.6(WRN):c.340G>A (p.Val114Ile) rs2230009 0.07797
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=) rs1861050 0.07770
NM_001267550.2(TTN):c.25921+10C>T rs10183237 0.07769
NM_201384.3(PLEC):c.9073G>A (p.Val3025Ile) rs35027700 0.07759
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.07737
NM_000748.3(CHRNB2):c.1338+14G>T rs4845378 0.07732
NM_198904.4(GABRG2):c.315C>T (p.Asn105=) rs11135176 0.07676
NM_002168.4(IDH2):c.996C>T (p.Ser332=) rs61737003 0.07655
NM_001184.4(ATR):c.5460T>C (p.Tyr1820=) rs2227932 0.07623
NM_201384.3(PLEC):c.8820C>G (p.Asp2940Glu) rs58308209 0.07595
NM_001166114.2(PNPLA6):c.765C>T (p.Asn255=) rs591040 0.07584
NM_001363.5(DKC1):c.1461C>T (p.Ala487=) rs1127051 0.07549
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu) rs36117715 0.07538
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=) rs1800130 0.07467
NM_133444.3(ZNF526):c.281T>C (p.Val94Ala) rs3810151 0.07452
NM_001321142.2(CIDEC):c.600C>T (p.His200=) rs17222536 0.07435
NM_020987.5(ANK3):c.6066C>T (p.Ala2022=) rs17208576 0.07406
NM_020987.5(ANK3):c.8655C>A (p.His2885Gln) rs11599164 0.07405
NM_005857.5(ZMPSTE24):c.651T>C (p.Asp217=) rs2076697 0.07398
NM_020987.5(ANK3):c.9349A>G (p.Ile3117Val) rs28932171 0.07385
NM_000751.3(CHRND):c.1047+9T>C rs3762528 0.07349
NM_201384.3(PLEC):c.3378G>A (p.Glu1126=) rs11991764 0.07344
NM_004369.4(COL6A3):c.8962A>G (p.Met2988Val) rs11690358 0.07295
NM_006772.3(SYNGAP1):c.1536A>G (p.Glu512=) rs7759963 0.07295
NM_001083961.2(WDR62):c.1643-39G>A rs2301735 0.07203
NM_024757.5(EHMT1):c.1368C>T (p.Leu456=) rs45450992 0.07198
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=) rs61753724 0.07191
NM_001267550.2(TTN):c.42783A>G (p.Lys14261=) rs16866425 0.07162
NM_017757.3(ZNF407):c.206A>G (p.Asn69Ser) rs3794942 0.07157
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu) rs6723526 0.07129
NM_018249.6(CDK5RAP2):c.480A>C (p.Leu160=) rs3750494 0.07110
NM_004722.4(AP4M1):c.812G>A (p.Arg271His) rs41280968 0.07094
NM_201384.3(PLEC):c.10920C>T (p.Tyr3640=) rs28455570 0.07092
NM_182961.4(SYNE1):c.12363G>T (p.Lys4121Asn) rs28385621 0.07062
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.07010
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4]) rs398124622 0.06994
NM_020944.3(GBA2):c.33C>T (p.Thr11=) rs34312177 0.06991
NM_004369.4(COL6A3):c.8451A>G (p.Pro2817=) rs61729844 0.06907
NM_004369.4(COL6A3):c.7842C>T (p.Ser2614=) rs34558385 0.06903
NM_004369.4(COL6A3):c.8820G>A (p.Thr2940=) rs11683438 0.06890
NM_001458.5(FLNC):c.3624G>A (p.Ala1208=) rs35281128 0.06868
NM_012414.4(RAB3GAP2):c.3495G>A (p.Leu1165=) rs11547779 0.06867
NM_012414.4(RAB3GAP2):c.3275G>C (p.Ser1092Thr) rs2289189 0.06844
NM_006005.3(WFS1):c.2322G>A (p.Lys774=) rs2230721 0.06809
NM_014832.5(TBC1D4):c.302C>T (p.Ala101Val) rs77685055 0.06802
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly) rs112562759 0.06801
NM_024596.5(MCPH1):c.1936-43T>G rs41311412 0.06799
NM_020987.5(ANK3):c.9137C>G (p.Thr3046Ser) rs74153183 0.06794
NM_032119.4(ADGRV1):c.5780C>T (p.Thr1927Met) rs17544552 0.06764
NM_001365536.1(SCN9A):c.3802-4A>G rs75230218 0.06754
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_006059.4(LAMC3):c.1047C>T (p.Gly349=) rs45603838 0.06722
NM_004369.4(COL6A3):c.7329C>T (p.Ala2443=) rs10084221 0.06701
NM_000352.6(ABCC8):c.330C>T (p.Ala110=) rs8192695 0.06691
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=) rs10201909 0.06660
NM_017777.4(MKS1):c.191-44G>A rs73329636 0.06658
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) rs149207258 0.06646
NM_182961.4(SYNE1):c.3306C>T (p.His1102=) rs17082701 0.06632
NM_005984.5(SLC25A1):c.279T>C (p.Gly93=) rs2070255 0.06611
NM_000080.4(CHRNE):c.1033-6C>T rs2075763 0.06582
NM_006031.6(PCNT):c.7913+32C>T rs57385578 0.06573
NM_182961.4(SYNE1):c.14061G>C (p.Leu4687=) rs3734365 0.06565
NM_020361.5(CPA6):c.518C>G (p.Ser173Cys) rs17853192 0.06550
NM_207346.3(TSEN54):c.521+39C>T rs57636645 0.06538
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=) rs2228071 0.06536
NM_144508.5(KNL1):c.4339A>G (p.Thr1447Ala) rs16970911 0.06529
NM_207346.3(TSEN54):c.624-37A>C rs73998306 0.06523
NM_201384.3(PLEC):c.4644G>A (p.Ala1548=) rs62642470 0.06519
NM_004933.3(CDH15):c.109G>T (p.Ala37Ser) rs2287359 0.06504
NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser) rs150688899 0.06491
NM_002206.3(ITGA7):c.415-10C>T rs11171661 0.06475
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356 0.06463
NM_001377299.1(NDUFS2):c.1054C>G (p.Pro352Ala) rs11576415 0.06461
NM_181332.3(NLGN4X):c.1251G>C (p.Arg417=) rs61741754 0.06453
NM_017721.5(CC2D1A):c.1015A>C (p.Thr339Pro) rs11883041 0.06417
NM_032119.4(ADGRV1):c.9280G>A (p.Val3094Ile) rs13157270 0.06417
NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His) rs3208406 0.06407
NM_017777.4(MKS1):c.1671G>C (p.Leu557=) rs11548967 0.06374
NM_018129.4(PNPO):c.552G>A (p.Leu184=) rs4378657 0.06317
NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu) rs17851770 0.06310
NM_018943.3(TUBA8):c.1057-7C>T rs2234338 0.06275
NM_001458.5(FLNC):c.4700G>A (p.Arg1567Gln) rs2291569 0.06258
NM_001199107.2(TBC1D24):c.207T>C (p.Pro69=) rs13339237 0.06245
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_201384.3(PLEC):c.2658G>A (p.Leu886=) rs78012434 0.06211
NM_000381.4(MID1):c.1230C>T (p.Ser410=) rs16986145 0.06185
NM_018943.3(TUBA8):c.897C>T (p.Asn299=) rs362203 0.06153
NM_001182.5(ALDH7A1):c.273T>C (p.Thr91=) rs60720055 0.06152
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571 0.06134
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712 0.06133
NM_001909.5(CTSD):c.231C>T (p.Ala77=) rs2230067 0.06127
NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys) rs17183814 0.06063
NM_000553.6(WRN):c.1161G>A (p.Met387Ile) rs1800391 0.06046
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His) rs10164753 0.06031
NM_182961.4(SYNE1):c.2653T>G (p.Leu885Val) rs17082709 0.06016
NM_000744.7(CHRNA4):c.51G>A (p.Leu17=) rs79739740 0.05992
NM_002470.4(MYH3):c.2106C>T (p.Gly702=) rs56259391 0.05968
NM_002470.4(MYH3):c.2610A>G (p.Lys870=) rs56163389 0.05967
NM_005045.4(RELN):c.6702T>C (p.Cys2234=) rs2075043 0.05938
NM_006031.6(PCNT):c.6150+49C>T rs112334245 0.05936
NM_201384.3(PLEC):c.8319C>T (p.Ala2773=) rs34534853 0.05909
NM_002547.3(OPHN1):c.115G>A (p.Val39Ile) rs41303733 0.05862
NM_007137.5(ZNF81):c.638C>A (p.Ala213Glu) rs537825 0.05857
NM_001267550.2(TTN):c.22080T>C (p.Asp7360=) rs16866473 0.05854
NM_032119.4(ADGRV1):c.18311-22A>G rs3749605 0.05845
NM_000489.6(ATRX):c.4659T>C (p.His1553=) rs25641 0.05840
NM_002206.3(ITGA7):c.810G>A (p.Gly270=) rs3847675 0.05834
NM_000726.5(CACNB4):c.1239G>A (p.Leu413=) rs1805028 0.05818
NM_007137.5(ZNF81):c.1911G>A (p.Pro637=) rs663514 0.05818
NM_201384.3(PLEC):c.7726C>T (p.Leu2576=) rs11988293 0.05812
NM_201384.3(PLEC):c.5865G>A (p.Ala1955=) rs62642469 0.05798
NM_006772.3(SYNGAP1):c.2970C>T (p.Ser990=) rs61421477 0.05793
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314 0.05752
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln) rs11896521 0.05751
NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly) rs56389778 0.05750
NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=) rs17543819 0.05741
NM_201384.3(PLEC):c.7878G>A (p.Leu2626=) rs34803322 0.05741
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser) rs4894048 0.05739
NM_001384732.1(CPLANE1):c.570+32G>A rs10072236 0.05734
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala) rs16866378 0.05725
NM_024809.5(TCTN2):c.873A>G (p.Ala291=) rs73418153 0.05717
NM_024809.5(TCTN2):c.225C>T (p.Asn75=) rs73416301 0.05714
NM_024809.5(TCTN2):c.83-4C>T rs73416299 0.05712
NM_006031.6(PCNT):c.8707G>A (p.Ala2903Thr) rs35147998 0.05666
NM_004268.5(MED17):c.516C>T (p.Thr172=) rs7119915 0.05663
NM_015192.4(PLCB1):c.2082G>A (p.Gly694=) rs3761170 0.05661
NM_004519.4(KCNQ3):c.1071C>G (p.Leu357=) rs17575754 0.05655
NM_032119.4(ADGRV1):c.8291C>T (p.Ser2764Leu) rs16869016 0.05655
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn) rs11888217 0.05644
NM_001366110.1(PAX4):c.543A>G (p.Gln181=) rs327517 0.05634
NM_003383.5(VLDLR):c.175G>A (p.Val59Ile) rs6149 0.05632
NM_000726.5(CACNB4):c.762T>A (p.Ile254=) rs61736804 0.05586
NM_025114.4(CEP290):c.6357+20A>T rs7971699 0.05562
NM_004268.5(MED17):c.342T>C (p.Asp114=) rs16919376 0.05535
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=) rs1064822 0.05512
NM_001379110.1(SLC9A6):c.1306+8G>A rs6654310 0.05510
NM_019892.6(INPP5E):c.1359C>T (p.Pro453=) rs35774078 0.05472
NM_018100.4(EFHC1):c.545G>A (p.Arg182His) rs3804505 0.05453
NM_213622.4(STAMBP):c.12T>C (p.His4=) rs919629 0.05408
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05381
NM_201525.4(ADGRG1):c.1286+6G>A rs74326170 0.05376
NM_025114.4(CEP290):c.5709+18C>A rs7973969 0.05367
NM_025114.4(CEP290):c.442-19T>A rs113132803 0.05334
NM_004519.4(KCNQ3):c.732T>C (p.Gly244=) rs41272387 0.05313
NM_004519.4(KCNQ3):c.660T>C (p.Asn220=) rs41272389 0.05312
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092 0.05306
NM_002168.4(IDH2):c.1050C>T (p.Thr350=) rs11540478 0.05301
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593 0.05293
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519 0.05277
NM_201384.3(PLEC):c.9101C>T (p.Ala3034Val) rs35858667 0.05256
NM_006031.6(PCNT):c.711T>G (p.His237Gln) rs34500739 0.05250
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_201384.3(PLEC):c.8025C>T (p.Gly2675=) rs35139934 0.05241
NM_005677.4(COLQ):c.934A>G (p.Ser312Gly) rs6782980 0.05224
NM_001032221.6(STXBP1):c.846C>T (p.Asp282=) rs58889246 0.05156
NM_002617.4(PEX10):c.279C>T (p.Gly93=) rs1143016 0.05120
NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val) rs2235638 0.05119
NM_182961.4(SYNE1):c.26060C>T (p.Thr8687Ile) rs35591210 0.05093
NM_182961.4(SYNE1):c.8163C>T (p.Ser2721=) rs58905396 0.05078
NM_006031.6(PCNT):c.5858G>A (p.Arg1953His) rs34268261 0.05068
NM_001184.4(ATR):c.3172-26T>A rs76852171 0.05061
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_198576.4(AGRN):c.3516+10G>C rs76264143 0.05034
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=) rs4894045 0.05021
NM_014855.3(AP5Z1):c.1124T>A (p.Leu375Gln) rs11772411 0.05021
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg) rs4893853 0.05020
NM_005334.3(HCFC1):c.2886G>A (p.Leu962=) rs3027883 0.05020
NM_002206.3(ITGA7):c.3018C>G (p.Ser1006=) rs17117883 0.05018
NM_006031.6(PCNT):c.8258G>A (p.Arg2753His) rs743346 0.04982
NM_014855.3(AP5Z1):c.1131C>T (p.His377=) rs11768079 0.04978
NM_006005.3(WFS1):c.1367G>A (p.Arg456His) rs1801208 0.04977
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_018129.4(PNPO):c.347G>A (p.Arg116Gln) rs17679445 0.04944
NM_001384732.1(CPLANE1):c.6427A>G (p.Ile2143Val) rs6884652 0.04935
NM_015272.5(RPGRIP1L):c.530-29G>A rs74393433 0.04932
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr) rs75807392 0.04908
NM_001267550.2(TTN):c.8492G>A (p.Ser2831Asn) rs2306636 0.04907
NM_181523.3(PIK3R1):c.1176C>T (p.Phe392=) rs3730090 0.04903
NM_024757.5(EHMT1):c.1869C>T (p.Asn623=) rs7868455 0.04901
NM_006031.6(PCNT):c.1937-44G>A rs17297961 0.04884
NM_018075.5(ANO10):c.1682C>T (p.Thr561Met) rs17409162 0.04859
NM_201384.3(PLEC):c.2613-7C>A rs11990994 0.04852
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042 0.04830
NM_138501.6(TECR):c.618C>T (p.Leu206=) rs59273619 0.04819
NM_024757.5(EHMT1):c.3087G>A (p.Val1029=) rs11137244 0.04812
NM_001109809.5(ZFP57):c.1103A>T (p.Asp368Val) rs2535241 0.04806
NM_004525.3(LRP2):c.6759T>C (p.Asp2253=) rs35114151 0.04805
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile) rs56142888 0.04798
NM_182914.3(SYNE2):c.16722A>G (p.Gln5574=) rs17101704 0.04797
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln) rs12476289 0.04792
NM_003070.5(SMARCA2):c.174G>A (p.Pro58=) rs10964470 0.04780
NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys) rs1130183 0.04770
NM_198576.4(AGRN):c.4996G>A (p.Val1666Ile) rs17160775 0.04750
NM_015346.4(ZFYVE26):c.3365C>T (p.Ala1122Val) rs3742884 0.04741
NM_012414.4(RAB3GAP2):c.2587A>G (p.Thr863Ala) rs12045447 0.04740
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=) rs17722172 0.04733
NM_018082.6(POLR3B):c.2218A>G (p.Thr740Ala) rs17038460 0.04732
NM_015346.4(ZFYVE26):c.3308C>T (p.Pro1103Leu) rs3742885 0.04730
NM_020549.5(CHAT):c.727C>T (p.Leu243Phe) rs8178990 0.04717
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_181523.3(PIK3R1):c.2109T>C (p.Leu703=) rs3729981 0.04683
NM_201384.3(PLEC):c.3717C>T (p.Ala1239=) rs112173070 0.04668
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758 0.04663
NM_018294.6(CWF19L1):c.720G>A (p.Ala240=) rs17112787 0.04645
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185 0.04642
NM_001244008.2(KIF1A):c.4319-8C>T rs1529663 0.04602
NM_032119.4(ADGRV1):c.14905T>C (p.Trp4969Arg) rs7729495 0.04586
NM_182961.4(SYNE1):c.5190T>A (p.Asp1730Glu) rs111250109 0.04561
NM_201384.3(PLEC):c.11601C>T (p.Asp3867=) rs75833626 0.04561
NM_173660.5(DOK7):c.753G>A (p.Ala251=) rs59932476 0.04559
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=) rs2228490 0.04552
NM_001267550.2(TTN):c.88272G>A (p.Glu29424=) rs9808036 0.04549
NM_020987.5(ANK3):c.8013C>T (p.Ser2671=) rs41274674 0.04537
NM_020717.5(SHROOM4):c.3168T>C (p.Arg1056=) rs61753881 0.04533
NM_005045.4(RELN):c.8136A>G (p.Leu2712=) rs3808039 0.04529
NM_025243.4(SLC19A3):c.435C>T (p.Ser145=) rs76517176 0.04500
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe) rs16841081 0.04499
NM_001184.4(ATR):c.4383-47A>G rs58348002 0.04498
NM_004268.5(MED17):c.1548T>C (p.Tyr516=) rs16919389 0.04492
NM_025243.4(SLC19A3):c.549T>C (p.Ala183=) rs74693100 0.04490
NM_004615.4(TSPAN7):c.237T>C (p.Ala79=) rs7049247 0.04476
NM_024757.5(EHMT1):c.129A>T (p.Ala43=) rs76684726 0.04476
NM_006031.6(PCNT):c.54+6C>T rs80017051 0.04471
NM_001378615.1(CC2D2A):c.541-25G>T rs16892080 0.04468
NM_006279.5(ST3GAL3):c.892-9G>A rs80055718 0.04438
NM_006059.4(LAMC3):c.3790C>T (p.Arg1264Trp) rs11244275 0.04427
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315 0.04402
NM_004525.3(LRP2):c.4236G>C (p.Arg1412=) rs34915742 0.04398
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607 0.04393
NM_003383.5(VLDLR):c.1458C>T (p.Ala486=) rs6143 0.04393
NM_004525.3(LRP2):c.4046-6T>C rs76714416 0.04392
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=) rs58465962 0.04390
NM_015192.4(PLCB1):c.99+8T>C rs6086350 0.04369
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869 0.04366
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418 0.04349
NM_025114.4(CEP290):c.942+28T>C rs56149649 0.04349
NM_003283.6(TNNT1):c.33-8G>A rs76630067 0.04332
NM_005677.4(COLQ):c.366+7A>G rs750387 0.04329
NM_001164508.2(NEB):c.20192A>T (p.Asp6731Val) rs2288200 0.04316
NM_000391.4(TPP1):c.441A>G (p.Glu147=) rs2555170 0.04313
NM_006031.6(PCNT):c.7130C>T (p.Pro2377Leu) rs61735814 0.04295
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_000310.4(PPT1):c.401T>C (p.Ile134Thr) rs1800205 0.04289
NM_001184.4(ATR):c.5381-41C>T rs34502778 0.04288
NM_001378615.1(CC2D2A):c.777C>T (p.His259=) rs2286976 0.04284
NM_201384.3(PLEC):c.10014C>T (p.Val3338=) rs35775257 0.04275
NM_001109809.5(ZFP57):c.559C>T (p.Arg187Cys) rs61730330 0.04274
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_153704.6(TMEM67):c.406+1361C>T rs73324992 0.04251
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_001083961.2(WDR62):c.1768+28G>A rs77938609 0.04228
NM_001614.5(ACTG1):c.1026T>C (p.Gly342=) rs1139406 0.04214
NM_138501.6(TECR):c.799+6C>T rs10405483 0.04190
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=) rs35959206 0.04188
NM_001614.5(ACTG1):c.1014G>A (p.Ser338=) rs1139807 0.04188
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val) rs77469944 0.04185
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657 0.04171
NM_001374828.1(ARID1B):c.1986+28T>C rs73572289 0.04166
NM_013339.4(ALG6):c.981T>C (p.Phe327=) rs75451833 0.04164
NM_207346.3(TSEN54):c.568G>A (p.Val190Met) rs79508780 0.04141
NM_003072.5(SMARCA4):c.4584C>T (p.Asp1528=) rs9105 0.04127
NM_000334.4(SCN4A):c.366C>T (p.Arg122=) rs41280108 0.04121
NM_182914.3(SYNE2):c.14776T>C (p.Leu4926=) rs8007874 0.04106
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=) rs16916221 0.04084
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=) rs2272727 0.04082
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_004525.3(LRP2):c.13155C>T (p.His4385=) rs16856476 0.04079
NM_005045.4(RELN):c.1596G>A (p.Gln532=) rs41276154 0.04078
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998 0.04075
NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu) rs16866380 0.04073
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn) rs3813243 0.04071
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_001042472.3(ABHD12):c.1045G>A (p.Ala349Thr) rs746748 0.04054
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_001164508.2(NEB):c.20598C>G (p.Gly6866=) rs16830192 0.04050
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893 0.04049
NM_182961.4(SYNE1):c.15597C>G (p.Ala5199=) rs9383987 0.04048
NM_022095.4(ZNF335):c.2595C>A (p.Asp865Glu) rs41280276 0.04003
NM_015346.4(ZFYVE26):c.3118T>A (p.Ser1040Thr) rs112787369 0.03993
NM_006757.4(TNNT3):c.636T>C (p.Ile212=) rs16927166 0.03978
NM_030928.4(CDT1):c.1500G>T (p.Leu500=) rs3218720 0.03976
NM_001267550.2(TTN):c.98912G>A (p.Arg32971His) rs4894028 0.03961
NM_201384.3(PLEC):c.5583G>A (p.Ala1861=) rs75586449 0.03960
NM_000080.4(CHRNE):c.519C>T (p.Ala173=) rs33970119 0.03958
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu) rs17599091 0.03958
NM_139343.3(BIN1):c.894G>A (p.Ser298=) rs2228955 0.03955
NM_025114.4(CEP290):c.5709+25A>C rs17015438 0.03950
NM_001267550.2(TTN):c.49731T>C (p.His16577=) rs2115558 0.03943
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095 0.03933
NM_000156.6(GAMT):c.571-6G>A rs2074899 0.03927
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val) rs3731752 0.03923
NM_001042413.2(GLIS3):c.2686C>T (p.Leu896Phe) rs76094493 0.03919
NM_182914.3(SYNE2):c.7040C>A (p.Ala2347Glu) rs34625768 0.03914
NM_182914.3(SYNE2):c.7075A>G (p.Ser2359Gly) rs7157465 0.03914
NM_022095.4(ZNF335):c.2703C>T (p.Ser901=) rs3746504 0.03894
NM_001164508.2(NEB):c.25395T>G (p.Ser8465=) rs13031275 0.03886
NM_006031.6(PCNT):c.520A>G (p.Ile174Val) rs61735822 0.03881
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_001083961.2(WDR62):c.561+44C>G rs115806759 0.03880
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_182914.3(SYNE2):c.4536A>G (p.Thr1512=) rs11158524 0.03853
NM_004525.3(LRP2):c.3836A>C (p.Asp1279Ala) rs17848149 0.03848
NM_182961.4(SYNE1):c.9954C>T (p.Ser3318=) rs73626656 0.03822
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=) rs16947296 0.03818
NM_201384.3(PLEC):c.11089C>T (p.Leu3697=) rs17062686 0.03808
NM_032119.4(ADGRV1):c.14029T>C (p.Phe4677Leu) rs62000408 0.03806
NM_020987.5(ANK3):c.2565T>C (p.Asn855=) rs10994234 0.03800
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=) rs56126202 0.03793
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03789
NM_017755.6(NSUN2):c.622+7A>T rs16877704 0.03788
NM_001843.4(CNTN1):c.1893T>C (p.His631=) rs2229929 0.03763
NM_182914.3(SYNE2):c.14737G>A (p.Glu4913Lys) rs12881815 0.03757
NM_144508.5(KNL1):c.245T>C (p.Met82Thr) rs79413475 0.03753
NM_005045.4(RELN):c.8508C>T (p.Phe2836=) rs2229862 0.03751
NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile) rs2278196 0.03742
NM_025114.4(CEP290):c.7035-38C>G rs45477492 0.03735
NM_004993.6(ATXN3):c.891A>G (p.Gln297=) rs12896583 0.03723
NM_201384.3(PLEC):c.718+10C>T rs12545876 0.03717
NM_201384.3(PLEC):c.11599G>C (p.Asp3867His) rs62642465 0.03714
NM_032119.4(ADGRV1):c.12927G>A (p.Ala4309=) rs35092519 0.03705
NM_001753.5(CAV1):c.156C>T (p.Val52=) rs10029 0.03703
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val) rs16866412 0.03700
NM_201384.3(PLEC):c.6314C>T (p.Ala2105Val) rs74772299 0.03697
NM_152783.5(D2HGDH):c.1107T>C (p.Asp369=) rs141343442 0.03691
NM_001127222.2(CACNA1A):c.1626G>A (p.Thr542=) rs16011 0.03687
NM_032531.4(KIRREL3):c.568A>G (p.Ile190Val) rs111418068 0.03684
NM_201384.3(PLEC):c.11913G>A (p.Ala3971=) rs73715559 0.03658
NM_201384.3(PLEC):c.2548G>A (p.Ala850Thr) rs58836306 0.03656
NM_006493.4(CLN5):c.173+8C>T rs9565308 0.03653
NM_012414.4(RAB3GAP2):c.2088A>G (p.Thr696=) rs2577126 0.03652
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala) rs9014 0.03641
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324 0.03639
NM_022095.4(ZNF335):c.1623C>T (p.His541=) rs16990964 0.03634
NM_022095.4(ZNF335):c.2253+10G>T rs6130977 0.03629
NM_025114.4(CEP290):c.2368-37T>G rs115837670 0.03623
NM_004615.4(TSPAN7):c.441C>T (p.Ser147=) rs111440990 0.03616
NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=) rs17846714 0.03612
NM_001164508.2(NEB):c.16762T>A (p.Ser5588Thr) rs35227368 0.03610
NM_152564.5(VPS13B):c.3667-7C>T rs35543295 0.03607
NM_001244008.2(KIF1A):c.234C>T (p.Gly78=) rs61744930 0.03600
NM_001378030.1(CCDC78):c.549G>A (p.Leu183=) rs8055909 0.03578
NM_138501.6(TECR):c.462C>A (p.Gly154=) rs76484116 0.03573
NM_015426.5(POC1A):c.1044G>T (p.Gln348His) rs35898691 0.03568
NM_001849.4(COL6A2):c.714+9C>T rs78822624 0.03565
NM_019066.5(MAGEL2):c.3151C>A (p.Leu1051Ile) rs2233070 0.03565
NM_001267550.2(TTN):c.48996G>A (p.Glu16332=) rs72677244 0.03561
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_016648.4(LARP7):c.10G>A (p.Glu4Lys) rs79383654 0.03552
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val) rs72646881 0.03550
NM_133642.5(LARGE1):c.1731-24T>C rs73399532 0.03540
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile) rs67665715 0.03523
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr) rs11896637 0.03502
NM_006031.6(PCNT):c.3580G>A (p.Ala1194Thr) rs35044802 0.03488
NM_173495.3(PTCHD1):c.93G>A (p.Ala31=) rs12014412 0.03486
NM_001365088.1(SLC12A6):c.1944-26C>T rs34807905 0.03484
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val) rs16866531 0.03468
NM_032119.4(ADGRV1):c.6289C>T (p.Arg2097Cys) rs16868974 0.03455
NM_001324144.2(ZNF41):c.374T>G (p.Ile125Arg) rs17147624 0.03453
NM_181741.4(ORC4):c.166C>G (p.Leu56Val) rs2307397 0.03439
NM_002206.3(ITGA7):c.824G>A (p.Arg275His) rs74867235 0.03438
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=) rs16978875 0.03433
NM_003072.5(SMARCA4):c.1413G>A (p.Lys471=) rs17001073 0.03431
NM_016648.4(LARP7):c.836G>A (p.Arg279Gln) rs62317770 0.03420
NM_001458.5(FLNC):c.3838C>T (p.Leu1280=) rs34180031 0.03419
NM_001101.5(ACTB):c.942G>A (p.Gln314=) rs11546939 0.03418
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529 0.03418
NM_182961.4(SYNE1):c.14917C>T (p.Leu4973=) rs35085679 0.03417
NM_001184.4(ATR):c.3725+18A>G rs73864554 0.03416
NM_182961.4(SYNE1):c.13221C>T (p.Asp4407=) rs10499268 0.03416
NM_015346.4(ZFYVE26):c.1224G>T (p.Gly408=) rs17104689 0.03409
NM_006031.6(PCNT):c.6571T>C (p.Ser2191Pro) rs34151633 0.03401
NM_152564.5(VPS13B):c.11565A>G (p.Ser3855=) rs7844645 0.03400
NM_001244008.2(KIF1A):c.2235C>T (p.Ala745=) rs35945835 0.03379
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_025137.4(SPG11):c.3420G>A (p.Leu1140=) rs36014111 0.03348
NM_000257.4(MYH7):c.1605A>G (p.Glu535=) rs2069543 0.03319
NM_005045.4(RELN):c.5351+3A>G rs6967725 0.03307
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671 0.03303
NM_001083961.2(WDR62):c.4153+37C>G rs58041656 0.03299
NM_182914.3(SYNE2):c.14734C>G (p.Pro4912Ala) rs17766354 0.03286
NM_000070.3(CAPN3):c.1029+3A>G rs28364442 0.03285
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373 0.03282
NM_182914.3(SYNE2):c.3559A>C (p.Ile1187Leu) rs57259697 0.03281
NM_182914.3(SYNE2):c.2409C>A (p.Ser803=) rs17101525 0.03277
NM_182961.4(SYNE1):c.22473G>A (p.Leu7491=) rs34891041 0.03277
NM_025243.4(SLC19A3):c.520G>A (p.Val174Ile) rs59736804 0.03276
NM_000540.3(RYR1):c.12094+11A>G rs73933018 0.03267
NM_001128178.3(NPHP1):c.771+39C>T rs73954628 0.03266
NM_001848.3(COL6A1):c.1773G>A (p.Pro591=) rs74852641 0.03265
NM_001130987.2(DYSF):c.666T>C (p.Pro222=) rs35392229 0.03244
NM_000751.3(CHRND):c.120G>A (p.Lys40=) rs55921262 0.03225
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001161352.2(KCNMA1):c.2710-8T>C rs78672251 0.03213
NM_032119.4(ADGRV1):c.10872A>G (p.Gln3624=) rs17624033 0.03213
NM_001190417.2(ZNF674):c.1013C>T (p.Thr338Met) rs61730637 0.03202
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_000834.5(GRIN2B):c.15G>A (p.Ala5=) rs34315573 0.03193
NM_032119.4(ADGRV1):c.16248C>T (p.Val5416=) rs3763073 0.03149
NM_000334.4(SCN4A):c.2919C>T (p.Pro973=) rs73992419 0.03148
NM_000334.4(SCN4A):c.4288+10G>T rs114059193 0.03137
NM_003383.5(VLDLR):c.944-5T>C rs35782329 0.03136
NM_001378778.1(MPDZ):c.5723G>A (p.Arg1908Lys) rs34605667 0.03134
NM_182914.3(SYNE2):c.10567A>C (p.Lys3523Gln) rs35203186 0.03124
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu) rs8177536 0.03119
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser) rs398124605 0.03116
NM_002474.3(MYH11):c.5370C>T (p.Leu1790=) rs35295469 0.03116
NM_000540.3(RYR1):c.2871-5C>T rs45585535 0.03110
NM_153026.3(PRICKLE1):c.585C>T (p.Asp195=) rs74081707 0.03104
NM_032119.4(ADGRV1):c.13232-7A>G rs2438358 0.03097
NM_001164508.2(NEB):c.21963A>G (p.Lys7321=) rs61730765 0.03096
NM_001384732.1(CPLANE1):c.378G>A (p.Gly126=) rs73750958 0.03087
NM_139343.3(BIN1):c.1595C>T (p.Thr532Met) rs112318500 0.03069
NM_032119.4(ADGRV1):c.380T>G (p.Leu127Arg) rs41311333 0.03061
NM_006493.4(CLN5):c.1041T>C (p.Pro347=) rs36038805 0.03060
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958 0.03057
NM_020987.5(ANK3):c.909A>C (p.Thr303=) rs73269474 0.03053
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_025000.4(DCAF17):c.555T>A (p.His185Gln) rs3731984 0.03047
NM_001083961.2(WDR62):c.3514+44G>A rs45468494 0.03042
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03031
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=) rs61741123 0.03029
NM_001324144.2(ZNF41):c.660T>G (p.Asn220Lys) rs34301930 0.03028
NM_000489.6(ATRX):c.228G>A (p.Ser76=) rs5959371 0.03016
NM_003072.5(SMARCA4):c.1509A>G (p.Ala503=) rs17001075 0.03015
NM_001253852.3(AP4B1):c.402A>C (p.Ser134=) rs34751342 0.03013
NM_020987.5(ANK3):c.12769A>G (p.Ile4257Val) rs12261793 0.03012
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179 0.03009
NM_001164508.2(NEB):c.19102-6C>T rs145127681 0.03008
NM_014009.4(FOXP3):c.543C>T (p.Ser181=) rs2232367 0.03006
NM_001458.5(FLNC):c.1614C>T (p.Tyr538=) rs76046880 0.02993
NM_212550.5(BLOC1S3):c.322C>G (p.Leu108Val) rs75792246 0.02993
NM_002693.3(POLG):c.2958C>T (p.Tyr986=) rs2307431 0.02985
NM_000540.3(RYR1):c.4107C>T (p.Pro1369=) rs11882640 0.02972
NM_005573.4(LMNB1):c.432G>A (p.Ser144=) rs34224885 0.02972
NM_198576.4(AGRN):c.261C>T (p.Asp87=) rs6657048 0.02966
NM_012233.3(RAB3GAP1):c.1992G>A (p.Ser664=) rs7595725 0.02952
NM_024596.5(MCPH1):c.1728C>T (p.Gly576=) rs41313954 0.02943
NM_001384732.1(CPLANE1):c.5343A>T (p.Thr1781=) rs73750949 0.02942
NM_182914.3(SYNE2):c.9078A>T (p.Glu3026Asp) rs34843668 0.02941
NM_182914.3(SYNE2):c.7690A>G (p.Ile2564Val) rs11628107 0.02936
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_001101426.4(CRPPA):c.726A>G (p.Gln242=) rs61746966 0.02927
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val) rs17355446 0.02915
NM_020987.5(ANK3):c.2124T>C (p.Asp708=) rs34552044 0.02906
NM_001291867.2(NHS):c.3201T>C (p.Ser1067=) rs56908561 0.02903
NM_001291867.2(NHS):c.3204A>G (p.Leu1068=) rs56691712 0.02899
NM_025114.4(CEP290):c.297+36A>G rs45468703 0.02898
NM_173630.4(RTTN):c.4940+7G>A rs17082039 0.02895
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720 0.02889
NM_021252.5(RAB18):c.592G>A (p.Ala198Thr) rs11015859 0.02882
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_001384732.1(CPLANE1):c.94G>A (p.Val32Ile) rs73750959 0.02866
NM_198525.3(KIF7):c.2043T>A (p.Val681=) rs72750755 0.02861
NM_201525.4(ADGRG1):c.1460T>C (p.Met487Thr) rs17379472 0.02860
NM_001848.3(COL6A1):c.2781C>T (p.Tyr927=) rs61735853 0.02858
NM_024577.4(SH3TC2):c.512G>A (p.Gly171Glu) rs17722293 0.02854
NM_000051.4(ATM):c.657T>C (p.Cys219=) rs2235003 0.02841
NM_133444.3(ZNF526):c.1662C>T (p.Val554=) rs111722832 0.02840
NM_001130438.3(SPTAN1):c.2872-42G>A rs4307429 0.02839
NM_181523.3(PIK3R1):c.621T>C (p.Ile207=) rs61749601 0.02836
NM_001385875.1(ZFYVE27):c.244G>A (p.Val82Ile) rs17108378 0.02833
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_182961.4(SYNE1):c.12607G>A (p.Glu4203Lys) rs2130262 0.02821
NM_001164508.2(NEB):c.4407G>C (p.Glu1469Asp) rs34800215 0.02813
NM_000426.4(LAMA2):c.6167C>A (p.Thr2056Lys) rs73775407 0.02812
NM_025265.4(TSEN2):c.909+34G>A rs78943415 0.02811
NM_004560.4(ROR2):c.1710G>A (p.Pro570=) rs41277837 0.02804
NM_003070.5(SMARCA2):c.717G>A (p.Pro239=) rs10964525 0.02801
NM_000702.4(ATP1A2):c.2961C>T (p.Cys987=) rs74123254 0.02789
NM_004525.3(LRP2):c.7894A>G (p.Asn2632Asp) rs17848169 0.02788
NM_020451.3(SELENON):c.981C>T (p.Arg327=) rs147587542 0.02788
NM_152783.5(D2HGDH):c.1395G>A (p.Thr465=) rs111670322 0.02768
NM_025009.5(CEP135):c.335G>A (p.Arg112His) rs77591659 0.02766
NM_001379110.1(SLC9A6):c.1689C>T (p.Ser563=) rs2307131 0.02758
NM_002024.6(FMR1):c.433G>T (p.Ala145Ser) rs29281 0.02758
NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly) rs3750904 0.02756
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_004369.4(COL6A3):c.1976G>A (p.Arg659His) rs36092870 0.02734
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626 0.02731
NM_004826.4(ECEL1):c.1797-10G>A rs76290356 0.02730
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=) rs1801261 0.02724
NM_182961.4(SYNE1):c.26002-4A>G rs77220999 0.02717
NM_004993.6(ATXN3):c.883A>C (p.Lys295Gln) rs12896588 0.02716
NM_006765.4(TUSC3):c.912G>A (p.Ser304=) rs17121892 0.02710
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114 0.02697
NM_182961.4(SYNE1):c.12138G>A (p.Gln4046=) rs60344647 0.02693
NM_182961.4(SYNE1):c.17339G>A (p.Arg5780Gln) rs76160752 0.02687
NM_001849.4(COL6A2):c.679G>A (p.Asp227Asn) rs35881321 0.02685
NM_001367721.1(CASK):c.1234-22G>A rs5963260 0.02684
NM_001367721.1(CASK):c.1234-30G>A rs5964019 0.02683
NM_004369.4(COL6A3):c.9123G>A (p.Thr3041=) rs61729843 0.02678
NM_020822.3(KCNT1):c.978A>G (p.Pro326=) rs61739517 0.02678
NM_173560.4(RFX6):c.50C>A (p.Ala17Glu) rs9489056 0.02675
NM_005257.6(GATA6):c.851C>G (p.Ala284Gly) rs185325359 0.02672
NM_004369.4(COL6A3):c.882C>T (p.Phe294=) rs7561625 0.02665
NM_004525.3(LRP2):c.12151+4T>C rs17848192 0.02665
NM_000834.5(GRIN2B):c.870C>T (p.Pro290=) rs1124894 0.02647
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala) rs17081389 0.02639
NM_015080.4(NRXN2):c.246G>A (p.Leu82=) rs12293481 0.02638
NM_001082538.3(TCTN1):c.473-10T>A rs12307716 0.02637
NM_000080.4(CHRNE):c.53G>T (p.Gly18Val) rs4790235 0.02635
NM_182961.4(SYNE1):c.16277C>T (p.Thr5426Met) rs2306914 0.02635
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915 0.02614
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=) rs34292743 0.02604
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179 0.02602
NM_007254.4(PNKP):c.1189-10del rs3739205 0.02593
NM_001164508.2(NEB):c.19732-6C>T rs11894996 0.02589
NM_001082538.3(TCTN1):c.341+46G>T rs80078413 0.02579
NM_001904.4(CTNNB1):c.1516C>T (p.Leu506=) rs3856748 0.02575
NM_007175.8(ERLIN2):c.318C>T (p.Asn106=) rs16887018 0.02568
NM_182961.4(SYNE1):c.22452A>G (p.Ser7484=) rs36044575 0.02562
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821 0.02553
NM_018249.6(CDK5RAP2):c.5418C>T (p.Pro1806=) rs3739822 0.02551
NM_012301.4(MAGI2):c.3915G>A (p.Gln1305=) rs117054456 0.02550
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=) rs12008807 0.02548
NM_001323289.2(CDKL5):c.555-19C>G rs75057928 0.02527
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02522
NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu) rs3765310 0.02518
NM_002025.4(AFF2):c.1653A>G (p.Thr551=) rs16994869 0.02513
NM_003482.4(KMT2D):c.15978T>G (p.Leu5326=) rs55776396 0.02513
NM_000310.4(PPT1):c.837G>C (p.Gln279His) rs72937434 0.02506
NM_006790.3(MYOT):c.149A>G (p.Gln50Arg) rs34717730 0.02506
NM_004525.3(LRP2):c.2006G>A (p.Gly669Asp) rs34291900 0.02496
NM_152783.5(D2HGDH):c.292+9G>A rs148813816 0.02496
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=) rs34836829 0.02488
NM_201384.3(PLEC):c.5229G>A (p.Ala1743=) rs140406501 0.02486
NM_000123.4(ERCC5):c.760A>G (p.Met254Val) rs1047769 0.02485
NM_006493.4(CLN5):c.87C>G (p.Ala29=) rs138037471 0.02484
NM_182961.4(SYNE1):c.6470A>G (p.Lys2157Arg) rs75989452 0.02484
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val) rs61734789 0.02478
NM_019892.6(INPP5E):c.33C>G (p.Ser11=) rs79161998 0.02475
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile) rs1800961 0.02469
NM_001130438.3(SPTAN1):c.1221+11C>T rs113357847 0.02463
NM_005045.4(RELN):c.5831T>G (p.Phe1944Cys) rs77664442 0.02460
NM_004993.6(ATXN3):c.882A>G (p.Gln294=) rs12896589 0.02453
NM_002470.4(MYH3):c.5457+3G>A rs200954595 0.02449
NM_003482.4(KMT2D):c.12028T>C (p.Ser4010Pro) rs80132640 0.02449
NM_032119.4(ADGRV1):c.9771C>T (p.Ser3257=) rs16869039 0.02440
NM_001160372.4(TRAPPC9):c.3279+4C>T rs79877357 0.02434
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768 0.02431
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=) rs28763943 0.02427
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=) rs34181055 0.02427
NM_003482.4(KMT2D):c.248G>A (p.Arg83Gln) rs55865069 0.02422
NM_003659.4(AGPS):c.207A>G (p.Ala69=) rs34744592 0.02410
NM_022095.4(ZNF335):c.3187C>A (p.Arg1063=) rs11905235 0.02405
NM_001843.4(CNTN1):c.401-9C>T rs57340925 0.02401
NM_000540.3(RYR1):c.1577-6C>G rs61586345 0.02394
NM_025009.5(CEP135):c.2976C>G (p.Thr992=) rs35143702 0.02394
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_025009.5(CEP135):c.3075T>C (p.Asn1025=) rs61753870 0.02389
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=) rs61004744 0.02387
NM_004840.3(ARHGEF6):c.2007C>T (p.Ser669=) rs12008084 0.02382
NM_014846.4(WASHC5):c.597A>G (p.Pro199=) rs7812319 0.02380
NM_001164508.2(NEB):c.612+8T>C rs113095802 0.02379
NM_032119.4(ADGRV1):c.327C>T (p.Asp109=) rs61753944 0.02377
NM_005677.4(COLQ):c.1248C>T (p.Asp416=) rs55866379 0.02373
NM_003383.5(VLDLR):c.24G>A (p.Ala8=) rs34336270 0.02372
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His) rs72648970 0.02369
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala) rs28413664 0.02366
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu) rs13021201 0.02363
NM_173660.5(DOK7):c.589G>A (p.Asp197Asn) rs16844422 0.02362
NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln) rs73175207 0.02358
NM_201384.3(PLEC):c.10046C>T (p.Thr3349Met) rs34725742 0.02357
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=) rs73036398 0.02352
NM_001365088.1(SLC12A6):c.2042+32C>A rs79436830 0.02352
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=) rs6736435 0.02349
NM_032119.4(ADGRV1):c.11472G>A (p.Leu3824=) rs74327115 0.02341
NM_133642.5(LARGE1):c.576C>T (p.Pro192=) rs36002910 0.02334
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr) rs41311343 0.02332
NM_020320.5(RARS2):c.991A>G (p.Ile331Val) rs3757370 0.02330
NM_020987.5(ANK3):c.402T>C (p.Asn134=) rs1031688 0.02324
NM_001110556.2(FLNA):c.1968C>T (p.Leu656=) rs73638274 0.02319
NM_001384732.1(CPLANE1):c.6051T>C (p.Ala2017=) rs61746147 0.02316
NM_005592.4(MUSK):c.225C>T (p.Tyr75=) rs56130155 0.02312
NM_001384732.1(CPLANE1):c.9346G>A (p.Gly3116Arg) rs7702892 0.02310
NM_182914.3(SYNE2):c.12626T>C (p.Ile4209Thr) rs61747118 0.02309
NM_001384732.1(CPLANE1):c.7775C>T (p.Pro2592Leu) rs16903518 0.02308
NM_013339.4(ALG6):c.726C>T (p.Phe242=) rs59848367 0.02294
NM_182914.3(SYNE2):c.13254C>A (p.Asn4418Lys) rs36021513 0.02290
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=) rs12373107 0.02286
NM_000426.4(LAMA2):c.8028T>C (p.Asn2676=) rs35313209 0.02285
NM_001130438.3(SPTAN1):c.1462-27T>A rs7040737 0.02284
NM_003611.3(OFD1):c.2387+11C>T rs140369491 0.02280
NM_001371623.1(TCOF1):c.2765C>T (p.Ser922Leu) rs114689020 0.02268
NM_001365536.1(SCN9A):c.3802-8T>C rs76550960 0.02262
NM_001077418.3(TMEM231):c.582+8C>G rs144252983 0.02257
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817 0.02253
NM_000540.3(RYR1):c.5622A>G (p.Glu1874=) rs35021937 0.02251
NM_004519.4(KCNQ3):c.1241A>G (p.Glu414Gly) rs2303995 0.02242
NM_001384732.1(CPLANE1):c.3743G>A (p.Gly1248Asp) rs72736758 0.02238
NM_005257.6(GATA6):c.43G>C (p.Gly15Arg) rs116262672 0.02238
NM_001164508.2(NEB):c.8466C>T (p.His2822=) rs61730771 0.02236
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355 0.02232
NM_000702.4(ATP1A2):c.1980C>T (p.Cys660=) rs61734529 0.02220
NM_002470.4(MYH3):c.6T>C (p.Ser2=) rs17817203 0.02219
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373 0.02216
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299 0.02215
NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln) rs74401238 0.02210
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751 0.02208
NM_001361.5(DHODH):c.1022C>T (p.Ala341Val) rs61733129 0.02206
NM_198525.3(KIF7):c.1444-4A>G rs112333674 0.02204
NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser) rs73599293 0.02196
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=) rs11913417 0.02196
NM_182914.3(SYNE2):c.11385G>A (p.Lys3795=) rs34954189 0.02196
NM_002470.4(MYH3):c.3008C>T (p.Ala1003Val) rs34088014 0.02195
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=) rs55847232 0.02188
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997 0.02188
NM_001267550.2(TTN):c.45738T>C (p.Ala15246=) rs2303829 0.02187
NM_001371623.1(TCOF1):c.2094A>G (p.Glu698=) rs34796297 0.02187
NM_201384.3(PLEC):c.8050C>T (p.Arg2684Trp) rs35723243 0.02185
NM_020987.5(ANK3):c.11685C>T (p.Ser3895=) rs7923682 0.02183
NM_022455.5(NSD1):c.7636G>A (p.Ala2546Thr) rs78247455 0.02182
NM_182961.4(SYNE1):c.12442G>C (p.Asp4148His) rs117501809 0.02182
NM_024757.5(EHMT1):c.128C>G (p.Ala43Gly) rs79514677 0.02177
NM_182914.3(SYNE2):c.8422C>T (p.Leu2808=) rs35960129 0.02175
NM_002470.4(MYH3):c.4155A>G (p.Glu1385=) rs58343499 0.02173
NM_020987.5(ANK3):c.1491+6C>T rs76733192 0.02170
NM_030665.4(RAI1):c.264G>A (p.Gln88=) rs61999281 0.02170
NM_006031.6(PCNT):c.5879G>A (p.Arg1960Gln) rs34813667 0.02167
NM_001111125.3(IQSEC2):c.1641G>A (p.Ala547=) rs61745228 0.02162
NM_182961.4(SYNE1):c.2527C>T (p.Arg843Cys) rs34610829 0.02158
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
NM_000540.3(RYR1):c.11754T>A (p.Thr3918=) rs45613041 0.02154
NM_016553.5(NUP62):c.549G>A (p.Thr183=) rs1984656 0.02153
NM_018451.5(CENPJ):c.187G>C (p.Asp63His) rs7336216 0.02151
NM_182961.4(SYNE1):c.11621A>C (p.Lys3874Thr) rs13210127 0.02151
NM_020549.5(CHAT):c.141C>G (p.Asp47Glu) rs3810948 0.02150
NM_000540.3(RYR1):c.11908-14A>G rs2292799 0.02149
NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu) rs4802584 0.02143
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=) rs35445420 0.02143
NM_018249.6(CDK5RAP2):c.1093-14G>A rs75029577 0.02140
NM_002470.4(MYH3):c.3938C>T (p.Thr1313Ile) rs35230241 0.02138
NM_182961.4(SYNE1):c.3960A>G (p.Thr1320=) rs138705766 0.02134
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile) rs55675869 0.02132
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508 0.02125
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=) rs56034831 0.02114
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780 0.02113
NM_173630.4(RTTN):c.4748-5A>G rs28495061 0.02113
NM_001244008.2(KIF1A):c.4143G>A (p.Pro1381=) rs2241683 0.02108
NM_000426.4(LAMA2):c.1533T>C (p.Asn511=) rs9492266 0.02106
NM_001267550.2(TTN):c.67635T>C (p.Val22545=) rs2288570 0.02106
NM_004369.4(COL6A3):c.5100G>A (p.Arg1700=) rs34340053 0.02105
NM_020921.4(NIN):c.5509T>A (p.Ser1837Thr) rs12717411 0.02104
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050 0.02098
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
NM_152564.5(VPS13B):c.3837C>T (p.Cys1279=) rs34941871 0.02088
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg) rs2288563 0.02080
NM_198525.3(KIF7):c.216G>A (p.Gln72=) rs113881220 0.02077
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607 0.02075
NM_017866.6(TMEM70):c.346C>G (p.Leu116Val) rs61732273 0.02073
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832 0.02072
NM_002206.3(ITGA7):c.2433-5G>A rs79745402 0.02069
NM_000334.4(SCN4A):c.2989+5G>A rs115695396 0.02066
NM_002472.3(MYH8):c.1701G>A (p.Gln567=) rs73275411 0.02065
NM_000079.4(CHRNA1):c.1073A>T (p.Asp358Val) rs6739001 0.02064
NM_024306.5(FA2H):c.289C>G (p.Pro97Ala) rs35874850 0.02064
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly) rs72648982 0.02056
NM_001267550.2(TTN):c.51684G>A (p.Ala17228=) rs2288566 0.02055
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=) rs13879 0.02053
NM_001378452.1(ITPR1):c.6696A>G (p.Lys2232=) rs34491089 0.02052
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_173630.4(RTTN):c.2856A>G (p.Leu952=) rs35139926 0.02051
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_001199107.2(TBC1D24):c.1143-6C>T rs73490287 0.02047
NM_006059.4(LAMC3):c.92G>T (p.Arg31Leu) rs116259120 0.02047
NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=) rs79391751 0.02044
NM_018129.4(PNPO):c.486C>G (p.Pro162=) rs35974730 0.02044
NM_001715.3(BLK):c.258G>A (p.Gln86=) rs56185487 0.02041
NM_005045.4(RELN):c.26A>C (p.Gln9Pro) rs115165703 0.02037
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995 0.02035
NM_004369.4(COL6A3):c.1786G>T (p.Ala596Ser) rs34934127 0.02035
NM_018136.5(ASPM):c.-110C>T rs74981632 0.02032
NM_006996.3(SLC19A2):c.1215G>A (p.Thr405=) rs61049753 0.02028
NM_032119.4(ADGRV1):c.581C>A (p.Pro194His) rs61745498 0.02028
NM_000080.4(CHRNE):c.45C>T (p.Leu15=) rs34563587 0.02026
NM_006031.6(PCNT):c.9014C>T (p.Thr3005Met) rs60078675 0.02025
NM_001267550.2(TTN):c.86811A>G (p.Val28937=) rs55972010 0.02012
NM_005765.3(ATP6AP2):c.868G>C (p.Ala290Pro) rs35798522 0.02009
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=) rs11694623 0.01999
NM_001134407.3(GRIN2A):c.1329-8C>T rs7193290 0.01998
NM_001267550.2(TTN):c.87669T>C (p.His29223=) rs72648229 0.01997
NM_001267550.2(TTN):c.87087T>C (p.Leu29029=) rs12621078 0.01996
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245 0.01993
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala) rs56018860 0.01992
NM_001267550.2(TTN):c.91852+8T>A rs56145100 0.01992
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly) rs72648257 0.01992
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr) rs3731745 0.01991
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser) rs3813246 0.01989
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=) rs3813247 0.01986
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile) rs56309296 0.01985
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr) rs56365600 0.01984
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys) rs56057221 0.01984
NM_005333.5(HCCS):c.215C>T (p.Ala72Val) rs2070163 0.01981
NM_001130438.3(SPTAN1):c.6708-7C>T rs16930539 0.01980
NM_001267550.2(TTN):c.95553C>T (p.Ser31851=) rs72648260 0.01980
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=) rs56214710 0.01979
NM_182914.3(SYNE2):c.17556+4T>C rs2297301 0.01974
NM_001244008.2(KIF1A):c.393C>T (p.Asn131=) rs35139906 0.01973
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=) rs2960319 0.01964
NM_004172.5(SLC1A3):c.657G>C (p.Glu219Asp) rs2032892 0.01962
NM_004369.4(COL6A3):c.7086A>C (p.Gly2362=) rs35902696 0.01962
NM_004525.3(LRP2):c.6045C>T (p.Ala2015=) rs34834388 0.01962
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=) rs72851170 0.01961
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129 0.01960
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=) rs72648950 0.01956
NM_000026.4(ADSL):c.358-4G>A rs113199851 0.01950
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369 0.01950
NM_001037.5(SCN1B):c.501T>C (p.Ile167=) rs16969930 0.01942
NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser) rs117781224 0.01941
NM_153704.6(TMEM67):c.870-29A>G rs116802062 0.01936
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
NM_001044385.3(TMEM237):c.395+7A>G rs78297522 0.01932
NM_005045.4(RELN):c.7110T>C (p.Val2370=) rs362746 0.01926
NM_001082538.3(TCTN1):c.894C>T (p.Leu298=) rs16940927 0.01924
NM_001100.4(ACTA1):c.996C>A (p.Ile332=) rs74897770 0.01920
NM_133642.5(LARGE1):c.309C>T (p.Ser103=) rs59349720 0.01920
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser) rs72650006 0.01917
NM_000079.4(CHRNA1):c.540+4G>C rs112674580 0.01914
NM_032119.4(ADGRV1):c.12592G>A (p.Val4198Met) rs2460169 0.01906
NM_004933.3(CDH15):c.153G>A (p.Pro51=) rs76549400 0.01905
NM_006059.4(LAMC3):c.2559C>T (p.Ser853=) rs34652877 0.01902
NM_001385875.1(ZFYVE27):c.378G>A (p.Lys126=) rs75060573 0.01901
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=) rs61735829 0.01898
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) rs36064831 0.01896
NM_001384732.1(CPLANE1):c.1809T>C (p.Thr603=) rs115435816 0.01890
NM_001415.4(EIF2S3):c.1266C>T (p.Ala422=) rs11548543 0.01884
NM_001378030.1(CCDC78):c.937C>T (p.Leu313=) rs61998209 0.01878
NM_006565.4(CTCF):c.1164C>T (p.Ser388=) rs143837268 0.01878
NM_153252.5(BRWD3):c.813+10G>C rs55824836 0.01875
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=) rs72648983 0.01872
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01865
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=) rs28763946 0.01862
NM_016464.5(TMEM138):c.261G>A (p.Val87=) rs35245221 0.01861
NM_020921.4(NIN):c.3459G>A (p.Arg1153=) rs41310342 0.01853
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln) rs73399520 0.01853
NM_001161352.2(KCNMA1):c.1578G>T (p.Leu526=) rs74140280 0.01852
NM_007347.5(AP4E1):c.2905-8A>G rs56813592 0.01851
NM_001330078.2(NRXN1):c.900C>T (p.Pro300=) rs2303298 0.01844
NM_144508.5(KNL1):c.2369C>G (p.Thr790Ser) rs33931006 0.01841
NM_018344.6(SLC29A3):c.842T>C (p.Leu281Pro) rs79737301 0.01835
NM_182914.3(SYNE2):c.12122G>A (p.Arg4041His) rs17101661 0.01834
NM_001182.5(ALDH7A1):c.675C>T (p.Leu225=) rs57902950 0.01833
NM_001267550.2(TTN):c.45206A>T (p.Glu15069Val) rs114331773 0.01832
NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=) rs35993209 0.01827
NM_000100.4(CSTB):c.15G>T (p.Ala5=) rs4533 0.01826
NM_001077418.3(TMEM231):c.582+3A>G rs114290622 0.01823
NM_001384732.1(CPLANE1):c.5900+7G>T rs78315844 0.01816
NM_004369.4(COL6A3):c.8145A>G (p.Leu2715=) rs35763271 0.01816
NM_012232.6(CAVIN1):c.927G>A (p.Ala309=) rs112332573 0.01816
NM_004369.4(COL6A3):c.7995A>C (p.Ala2665=) rs80193928 0.01815
NM_001384732.1(CPLANE1):c.5512A>G (p.Thr1838Ala) rs76245173 0.01809
NM_022455.5(NSD1):c.2071G>A (p.Ala691Thr) rs28932177 0.01809
NM_001034116.2(EIF2B4):c.916C>G (p.Arg306Gly) rs78599355 0.01806
NM_001371623.1(TCOF1):c.4295G>C (p.Gly1432Ala) rs45491898 0.01804
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser) rs185987427 0.01804
NM_014855.3(AP5Z1):c.2098G>A (p.Val700Met) rs11766611 0.01795
NM_001101362.3(KBTBD13):c.1128G>A (p.Thr376=) rs116623596 0.01793
NM_001244008.2(KIF1A):c.3282C>T (p.His1094=) rs35664935 0.01793
NM_001848.3(COL6A1):c.1957-5C>T rs78224483 0.01793
NM_001244008.2(KIF1A):c.1503A>G (p.Pro501=) rs35663732 0.01790
NM_152783.5(D2HGDH):c.1066C>T (p.His356Tyr) rs144668507 0.01790
NM_004525.3(LRP2):c.4344C>G (p.Ala1448=) rs35297090 0.01784
NM_152269.5(MTRFR):c.44G>A (p.Arg15Gln) rs78651634 0.01784
NM_001267550.2(TTN):c.542G>A (p.Ser181Asn) rs72647843 0.01782
NM_005198.5(CHKB):c.216C>T (p.Tyr72=) rs80067609 0.01782
NM_000540.3(RYR1):c.12624+14C>T rs75797287 0.01777
NM_006412.4(AGPAT2):c.317-7C>T rs74584184 0.01776
NM_017757.3(ZNF407):c.181A>G (p.Ser61Gly) rs75994611 0.01776
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe) rs2163649 0.01776
NM_000070.3(CAPN3):c.78G>A (p.Pro26=) rs62642519 0.01774
NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=) rs61732853 0.01773
NM_213599.3(ANO5):c.2259A>G (p.Ser753=) rs61746201 0.01772
NM_001267550.2(TTN):c.22611T>C (p.His7537=) rs16866469 0.01765
NM_001164508.2(NEB):c.8318G>A (p.Arg2773Gln) rs35974308 0.01764
NM_030928.4(CDT1):c.1179G>C (p.Gly393=) rs74035837 0.01762
NM_000742.4(CHRNA2):c.1324C>T (p.Leu442=) rs56298562 0.01760
NM_002206.3(ITGA7):c.1617G>T (p.Gln539His) rs61733963 0.01753
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=) rs16029 0.01749
NM_002206.3(ITGA7):c.3144G>C (p.Gly1048=) rs62648071 0.01749
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288 0.01748
NM_001184.4(ATR):c.946G>A (p.Val316Ile) rs28897764 0.01744
NM_004153.4(ORC1):c.2447T>C (p.Met816Thr) rs34521609 0.01742
NM_000426.4(LAMA2):c.1491T>C (p.Cys497=) rs2306220 0.01733
NM_000834.5(GRIN2B):c.504C>A (p.Ile168=) rs36031537 0.01733
NM_001161352.2(KCNMA1):c.2391T>C (p.Asp797=) rs77280228 0.01731
NM_020717.5(SHROOM4):c.1627A>T (p.Thr543Ser) rs61748324 0.01731
NM_001164508.2(NEB):c.23381C>T (p.Ser7794Leu) rs41270201 0.01730
NM_000426.4(LAMA2):c.8124T>A (p.Gly2708=) rs34997144 0.01727
NM_016302.4(CRBN):c.219C>T (p.His73=) rs1045309 0.01725
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile) rs56027402 0.01724
NM_017755.6(NSUN2):c.21T>C (p.Gly7=) rs184594943 0.01714
NM_198576.4(AGRN):c.1058A>G (p.Gln353Arg) rs150359724 0.01713
NM_003482.4(KMT2D):c.7188T>C (p.Cys2396=) rs111305262 0.01710
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962 0.01709
NM_024120.5(NDUFAF5):c.582C>T (p.Leu194=) rs117002283 0.01707
NM_012156.2(EPB41L1):c.1869G>A (p.Thr623=) rs73905303 0.01705
NM_020717.5(SHROOM4):c.439C>T (p.His147Tyr) rs111940781 0.01702
NM_198904.4(GABRG2):c.354G>A (p.Ala118=) rs61735412 0.01699
NM_173630.4(RTTN):c.2055+7C>T rs117843366 0.01697
NM_198859.4(PRICKLE2):c.1551G>A (p.Gln517=) rs116353694 0.01695
NM_001244710.2(GFPT1):c.147T>C (p.Asp49=) rs2230300 0.01692
NM_012280.4(FTSJ1):c.495C>T (p.Leu165=) rs34407506 0.01692
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875 0.01691
NM_001164508.2(NEB):c.21856G>A (p.Asp7286Asn) rs35625617 0.01691
NM_001034116.2(EIF2B4):c.729G>A (p.Pro243=) rs41288829 0.01685
NM_182961.4(SYNE1):c.20571A>T (p.Ser6857=) rs34905593 0.01683
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054 0.01682
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=) rs35984374 0.01679
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala) rs6889939 0.01679
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851 0.01678
NM_012232.6(CAVIN1):c.843G>A (p.Leu281=) rs35648297 0.01677
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323 0.01675
NM_032119.4(ADGRV1):c.7813T>G (p.Leu2605Val) rs79915053 0.01674
NM_001715.3(BLK):c.435C>T (p.Ala145=) rs7836533 0.01672
NM_007254.4(PNKP):c.817-47C>T rs3739198 0.01670
NM_005002.5(NDUFA9):c.881C>T (p.Pro294Leu) rs34076756 0.01666
NM_025243.4(SLC19A3):c.42C>T (p.Tyr14=) rs34080459 0.01664
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys) rs72648987 0.01656
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val) rs72648954 0.01649
NM_000426.4(LAMA2):c.8691A>G (p.Arg2897=) rs2228599 0.01648
NM_173560.4(RFX6):c.1328-10T>C rs182606018 0.01645
NM_001184.4(ATR):c.2875G>A (p.Val959Met) rs28910271 0.01643
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957 0.01643
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=) rs17082422 0.01643
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939 0.01642
NM_005850.5(SF3B4):c.682T>C (p.Leu228=) rs115070660 0.01638
NM_007327.4(GRIN1):c.2241G>C (p.Val747=) rs116354349 0.01638
NM_007327.4(GRIN1):c.2244G>C (p.Thr748=) rs79570612 0.01637
NM_201384.3(PLEC):c.9945C>T (p.Ser3315=) rs28657061 0.01636
NM_001134831.2(AHI1):c.2624-6A>G rs41288015 0.01635
NM_001267550.2(TTN):c.98164A>T (p.Ile32722Phe) rs72648270 0.01635
NM_001367916.1(MAGT1):c.651T>A (p.Thr217=) rs61732679 0.01635
NM_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808 0.01628
NM_001384732.1(CPLANE1):c.5314A>G (p.Ser1772Gly) rs79377186 0.01627
NM_201384.3(PLEC):c.6741C>T (p.Ile2247=) rs62641755 0.01627
NM_001384732.1(CPLANE1):c.3795T>A (p.Val1265=) rs74478954 0.01626
NM_001164508.2(NEB):c.571G>C (p.Glu191Gln) rs35686968 0.01624
NM_022095.4(ZNF335):c.2167T>G (p.Phe723Val) rs41305805 0.01624
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) rs35289681 0.01618
NM_006790.3(MYOT):c.780G>A (p.Ser260=) rs116773838 0.01617
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe) rs33917087 0.01611
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_000552.5(VWF):c.5049A>C (p.Ala1683=) rs79275181 0.01607
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=) rs79656636 0.01606
NM_004826.4(ECEL1):c.1995C>T (p.Asn665=) rs61731716 0.01605
NM_182961.4(SYNE1):c.19989T>C (p.His6663=) rs61746395 0.01595
NM_000070.3(CAPN3):c.1355-6G>A rs28364485 0.01593
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=) rs142518033 0.01592
NM_212550.5(BLOC1S3):c.366C>T (p.His122=) rs571269735 0.01592
NM_024596.5(MCPH1):c.634G>A (p.Ala212Thr) rs2922828 0.01586
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920 0.01583
NM_002500.5(NEUROD1):c.590C>A (p.Pro197His) rs8192556 0.01580
NM_000553.6(WRN):c.3236C>T (p.Ser1079Leu) rs3087414 0.01577
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592 0.01574
NM_001197104.2(KMT2A):c.89C>G (p.Ala30Gly) rs9332745 0.01573
NM_002470.4(MYH3):c.4128C>T (p.Tyr1376=) rs112569418 0.01571
NM_198576.4(AGRN):c.4740C>T (p.Arg1580=) rs115019873 0.01570
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=) rs2230158 0.01567
NM_020921.4(NIN):c.819C>T (p.Phe273=) rs61755581 0.01567
NM_001614.5(ACTG1):c.729C>T (p.Pro243=) rs2230159 0.01563
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) rs72647875 0.01559
NM_014855.3(AP5Z1):c.333G>C (p.Gln111His) rs11549840 0.01556
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser) rs77121899 0.01555
NM_018943.3(TUBA8):c.816C>T (p.Tyr272=) rs2234332 0.01553
NM_014855.3(AP5Z1):c.1197G>A (p.Glu399=) rs117666541 0.01551
NM_018249.6(CDK5RAP2):c.4821G>C (p.Arg1607Ser) rs16909747 0.01549
NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val) rs12481791 0.01548
NM_020549.5(CHAT):c.903T>C (p.Pro301=) rs113897064 0.01548
NM_020987.5(ANK3):c.8988G>C (p.Gln2996His) rs41274672 0.01542
NM_004168.4(SDHA):c.1664-8G>A rs199790689 0.01533
NM_004525.3(LRP2):c.11759-5T>G rs76488092 0.01524
NM_032119.4(ADGRV1):c.11481T>C (p.Asp3827=) rs16869083 0.01524
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_001458.5(FLNC):c.8121T>C (p.Ile2707=) rs28437296 0.01520
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=) rs66523653 0.01518
NM_001374828.1(ARID1B):c.4864A>T (p.Met1622Leu) rs34870395 0.01518
NM_001082538.3(TCTN1):c.1396G>T (p.Gly466Cys) rs118096349 0.01517
NM_006662.3(SRCAP):c.4293C>G (p.Val1431=) rs79597785 0.01517
NM_001458.5(FLNC):c.1374C>T (p.Pro458=) rs115140972 0.01514
NM_018136.5(ASPM):c.7787T>C (p.Val2596Ala) rs79572771 0.01514
NM_002025.4(AFF2):c.3837G>A (p.Thr1279=) rs61743576 0.01510
NM_144508.5(KNL1):c.727A>G (p.Ile243Val) rs76371152 0.01510
NM_001008537.3(NEXMIF):c.2598C>A (p.Ser866=) rs41298498 0.01502
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01499
NM_018026.4(PACS1):c.102G>A (p.Pro34=) rs75352646 0.01498
NM_144508.5(KNL1):c.4931A>G (p.Lys1644Arg) rs76098847 0.01498
NM_006005.3(WFS1):c.2469C>T (p.Ile823=) rs1801215 0.01494
NM_152564.5(VPS13B):c.9330+10T>A rs75904081 0.01493
NM_173630.4(RTTN):c.4850T>C (p.Met1617Thr) rs35409908 0.01493
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala) rs3025962 0.01491
NM_003560.4(PLA2G6):c.172G>A (p.Val58Ile) rs11570605 0.01488
NM_001384732.1(CPLANE1):c.3240C>T (p.Ala1080=) rs28514632 0.01487
NM_015192.4(PLCB1):c.924A>G (p.Ser308=) rs6056003 0.01487
NM_001272071.2(AP1S2):c.288T>C (p.Ser96=) rs61741688 0.01485
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_207346.3(TSEN54):c.624-9G>A rs138719855 0.01485
NM_012156.2(EPB41L1):c.555A>G (p.Glu185=) rs116334224 0.01482
NM_018026.4(PACS1):c.2061T>A (p.Ser687=) rs572697 0.01482
NM_000426.4(LAMA2):c.6234A>G (p.Lys2078=) rs56920166 0.01481
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489 0.01481
NM_002693.3(POLG):c.128A>G (p.Gln43Arg) rs28567406 0.01478
NM_020921.4(NIN):c.1728G>A (p.Pro576=) rs61755036 0.01477
NM_025009.5(CEP135):c.1220G>A (p.Ser407Asn) rs62641664 0.01474
NM_201384.3(PLEC):c.1706G>A (p.Arg569Gln) rs3135103 0.01472
NM_005765.3(ATP6AP2):c.285G>A (p.Ser95=) rs34217273 0.01468
NM_001253852.3(AP4B1):c.1365T>C (p.Tyr455=) rs114201291 0.01466
NM_001458.5(FLNC):c.8118C>T (p.Leu2706=) rs28379666 0.01465
NM_133642.5(LARGE1):c.165G>C (p.Thr55=) rs63446460 0.01465
NM_173630.4(RTTN):c.2886-9A>G rs75225724 0.01465
NM_007347.5(AP4E1):c.1085A>G (p.Tyr362Cys) rs58909326 0.01464
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370 0.01462
NM_001374828.1(ARID1B):c.1927A>G (p.Ile643Val) rs17318151 0.01456
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213 0.01455
NM_201384.3(PLEC):c.13205C>T (p.Thr4402Met) rs113513807 0.01455
NM_001384732.1(CPLANE1):c.1125A>G (p.Pro375=) rs61745362 0.01450
NM_004826.4(ECEL1):c.1267G>C (p.Glu423Gln) rs41265123 0.01449
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196 0.01445
NM_020987.5(ANK3):c.7140C>T (p.His2380=) rs3802696 0.01444
NM_024596.5(MCPH1):c.23-15A>G rs146351889 0.01440
NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=) rs35242963 0.01438
NM_001330078.2(NRXN1):c.4068G>A (p.Thr1356=) rs74714098 0.01437
NM_002206.3(ITGA7):c.1965T>C (p.Cys655=) rs7971022 0.01436
NM_020921.4(NIN):c.2651A>G (p.Lys884Arg) rs41299191 0.01436
NM_002206.3(ITGA7):c.3031T>C (p.Leu1011=) rs17117879 0.01435
NM_006005.3(WFS1):c.9C>T (p.Ser3=) rs71524363 0.01435
NM_006950.3(SYN1):c.912C>T (p.Ala304=) rs62636605 0.01433
NM_173660.5(DOK7):c.1351C>T (p.Arg451Trp) rs16844470 0.01433
NM_201384.3(PLEC):c.8012G>A (p.Arg2671Gln) rs28526657 0.01433
NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly) rs35740585 0.01429
NM_020822.3(KCNT1):c.2943+6C>T rs28612938 0.01429
NM_001384732.1(CPLANE1):c.1737G>A (p.Ala579=) rs13356183 0.01427
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val) rs16866391 0.01426
NM_001244008.2(KIF1A):c.2979C>T (p.Ala993=) rs116297894 0.01425
NM_006059.4(LAMC3):c.-2C>T rs137883250 0.01424
NM_173660.5(DOK7):c.1317C>T (p.Ser439=) rs16844467 0.01424
NM_001127222.2(CACNA1A):c.5739C>T (p.Ala1913=) rs16044 0.01420
NM_015631.6(TCTN3):c.925G>T (p.Ala309Ser) rs55859130 0.01420
NM_001267550.2(TTN):c.3993C>T (p.Ile1331=) rs55757622 0.01419
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01418
NM_173660.5(DOK7):c.1143C>T (p.Pro381=) rs56769879 0.01415
NM_000747.3(CHRNB1):c.821-9C>T rs76001008 0.01413
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser) rs16851307 0.01408
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=) rs2303836 0.01401
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991 0.01397
NM_003072.5(SMARCA4):c.915G>A (p.Pro305=) rs149573400 0.01397
NM_024824.5(ZC3H14):c.432-3T>C rs77755006 0.01392
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230 0.01390
NM_032119.4(ADGRV1):c.5304G>A (p.Glu1768=) rs41303346 0.01390
NM_153704.6(TMEM67):c.1288+46C>T rs73694952 0.01390
NM_001384732.1(CPLANE1):c.8664-3A>T rs58401892 0.01389
NM_004560.4(ROR2):c.75G>A (p.Leu25=) rs148237260 0.01389
NM_025265.4(TSEN2):c.1350G>A (p.Leu450=) rs116627250 0.01389
NM_201384.3(PLEC):c.4557G>A (p.Ser1519=) rs79705634 0.01389
NM_004369.4(COL6A3):c.3054C>T (p.Asn1018=) rs34367758 0.01387
NM_004369.4(COL6A3):c.9411T>C (p.Cys3137=) rs112290343 0.01385
NM_000048.4(ASL):c.1164C>T (p.His388=) rs75300185 0.01380
NM_006662.3(SRCAP):c.7263C>A (p.Arg2421=) rs74947321 0.01380
NM_014855.3(AP5Z1):c.2379G>T (p.Thr793=) rs77393809 0.01379
NM_001848.3(COL6A1):c.1443G>A (p.Glu481=) rs80244281 0.01378
NM_004369.4(COL6A3):c.3420G>A (p.Thr1140=) rs35489467 0.01378
NM_006493.4(CLN5):c.381T>G (p.Thr127=) rs34481987 0.01377
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=) rs80225158 0.01377
NM_201384.3(PLEC):c.6577C>T (p.Leu2193=) rs28610521 0.01376
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=) rs60824529 0.01375
NM_004153.4(ORC1):c.1115C>T (p.Ala372Val) rs3087476 0.01375
NM_000540.3(RYR1):c.7835+7C>T rs114522234 0.01374
NM_005045.4(RELN):c.9903C>T (p.Tyr3301=) rs73714404 0.01371
NM_001164508.2(NEB):c.11148G>C (p.Met3716Ile) rs149025191 0.01369
NM_001330260.2(SCN8A):c.4779C>T (p.Val1593=) rs12301486 0.01369
NM_014855.3(AP5Z1):c.281C>G (p.Ser94Cys) rs11549839 0.01367
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595 0.01363
NM_207346.3(TSEN54):c.1468C>T (p.Arg490Trp) rs144662042 0.01362
NM_003482.4(KMT2D):c.6807C>T (p.Ser2269=) rs73302197 0.01361
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=) rs76894284 0.01359
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435 0.01358
NM_003355.3(UCP2):c.750C>T (p.Tyr250=) rs45526034 0.01354
NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=) rs533485167 0.01351
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile) rs16866457 0.01351
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_019892.6(INPP5E):c.981C>T (p.Ala327=) rs35498378 0.01340
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318 0.01339
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_004369.4(COL6A3):c.8822C>T (p.Ala2941Val) rs11903206 0.01334
NM_182961.4(SYNE1):c.22809C>T (p.Leu7603=) rs34630198 0.01334
NM_153033.5(KCTD7):c.654C>T (p.Asp218=) rs117194263 0.01331
NM_182914.3(SYNE2):c.8597C>T (p.Thr2866Met) rs114508894 0.01330
NM_000352.6(ABCC8):c.4120-19C>T rs1800853 0.01325
NM_173560.4(RFX6):c.2166C>T (p.Thr722=) rs73765886 0.01325
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876 0.01322
NM_173560.4(RFX6):c.1327C>T (p.His443Tyr) rs77146142 0.01320
NM_004525.3(LRP2):c.3452C>T (p.Pro1151Leu) rs150552608 0.01319
NM_020921.4(NIN):c.5075G>A (p.Cys1692Tyr) rs75544578 0.01319
NM_001032221.6(STXBP1):c.38-3T>C rs138763389 0.01315
NM_018249.6(CDK5RAP2):c.880-7A>G rs76132121 0.01314
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816 0.01311
NM_000742.4(CHRNA2):c.913C>T (p.Leu305=) rs114294066 0.01308
NM_001267550.2(TTN):c.2949C>T (p.Ile983=) rs56310516 0.01308
NM_020549.5(CHAT):c.1198G>A (p.Asp400Asn) rs8178991 0.01308
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=) rs78196225 0.01307
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys) rs72646869 0.01305
NM_000352.6(ABCC8):c.3329+6C>T rs113873225 0.01304
NM_020921.4(NIN):c.4866A>C (p.Glu1622Asp) rs77959782 0.01304
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) rs116758271 0.01300
NM_152783.5(D2HGDH):c.293-23A>T rs145731647 0.01298
NM_201384.3(PLEC):c.7110C>T (p.Ala2370=) rs80143277 0.01298
NM_000548.5(TSC2):c.3883+8C>G rs45517316 0.01297
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831 0.01296
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646 0.01295
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met) rs16866475 0.01294
NM_003072.5(SMARCA4):c.1419+8C>T rs115492175 0.01292
NM_001384732.1(CPLANE1):c.4310T>C (p.Ile1437Thr) rs6859950 0.01291
NM_201384.3(PLEC):c.2217G>A (p.Gln739=) rs116612406 0.01288
NM_004933.3(CDH15):c.615C>T (p.Asp205=) rs148424541 0.01282
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val) rs3759873 0.01282
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734 0.01280
NM_002768.5(CHMP1A):c.382-8G>T rs116634240 0.01279
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=) rs35932349 0.01279
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377 0.01277
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_001184.4(ATR):c.4835A>G (p.Asn1612Ser) rs55894265 0.01275
NM_006059.4(LAMC3):c.4561T>G (p.Ser1521Ala) rs117361076 0.01275
NM_000077.5(CDKN2A):c.-25C>T rs144481587 0.01273
NM_002470.4(MYH3):c.699C>T (p.Asn233=) rs16943604 0.01272
NM_012233.3(RAB3GAP1):c.1041A>G (p.Arg347=) rs77972211 0.01269
NM_025137.4(SPG11):c.1347C>T (p.Thr449=) rs3759874 0.01269
NM_201384.3(PLEC):c.1374C>T (p.Thr458=) rs115081018 0.01267
NM_001164508.2(NEB):c.8592T>C (p.Asp2864=) rs61730772 0.01264
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=) rs16866467 0.01263
NM_000426.4(LAMA2):c.3613A>G (p.Thr1205Ala) rs35889149 0.01262
NM_000742.4(CHRNA2):c.771C>T (p.Tyr257=) rs56229264 0.01257
NM_000208.4(INSR):c.653-9del rs754360103 0.01255
NM_019892.6(INPP5E):c.636C>A (p.Val212=) rs34071122 0.01252
NM_002472.3(MYH8):c.4233C>T (p.Asn1411=) rs138992963 0.01251
NM_000426.4(LAMA2):c.1798G>A (p.Gly600Arg) rs36044314 0.01250
NM_001904.4(CTNNB1):c.2340C>T (p.Asp780=) rs2293303 0.01246
NM_020822.3(KCNT1):c.2210C>T (p.Thr737Met) rs61744696 0.01246
NM_031407.7(HUWE1):c.6031-4T>A rs139283158 0.01245
NM_002470.4(MYH3):c.3009G>A (p.Ala1003=) rs61735353 0.01244
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813 0.01242
NM_000096.4(CP):c.2378G>A (p.Arg793His) rs115552500 0.01239
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146 0.01239
NM_152296.5(ATP1A3):c.2319T>C (p.Asn773=) rs61733017 0.01238
NM_005045.4(RELN):c.6671+8T>C rs362758 0.01237
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His) rs145911138 0.01237
NM_001164508.2(NEB):c.20766C>T (p.Asp6922=) rs34555492 0.01234
NM_006950.3(SYN1):c.838-8T>G rs12394306 0.01234
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_020451.3(SELENON):c.409A>G (p.Thr137Ala) rs35019869 0.01231
NM_182914.3(SYNE2):c.13266G>A (p.Gln4422=) rs34944385 0.01230
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_006031.6(PCNT):c.4962+10G>A rs114474454 0.01225
NM_001164508.2(NEB):c.3775-6T>C rs80232472 0.01222
NM_001909.5(CTSD):c.189C>T (p.Thr63=) rs114051835 0.01221
NM_153026.3(PRICKLE1):c.744G>A (p.Ala248=) rs34778200 0.01220
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=) rs16012 0.01217
NM_024757.5(EHMT1):c.1162G>A (p.Ala388Thr) rs11137198 0.01217
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124 0.01216
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=) rs41276894 0.01215
NM_005045.4(RELN):c.8086G>A (p.Ala2696Thr) rs115640958 0.01215
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser) rs72629779 0.01213
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134 0.01212
NM_003619.4(PRSS12):c.1272T>G (p.Val424=) rs2292598 0.01208
NM_001371623.1(TCOF1):c.4053G>A (p.Ser1351=) rs114169102 0.01206
NM_018451.5(CENPJ):c.287A>G (p.His96Arg) rs61739263 0.01206
NM_002693.3(POLG):c.2254C>T (p.Leu752=) rs41564016 0.01204
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725 0.01203
NM_004369.4(COL6A3):c.1389C>T (p.Ala463=) rs112896869 0.01203
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069 0.01203
NM_001164508.2(NEB):c.23511G>A (p.Thr7837=) rs35808744 0.01201
NM_182914.3(SYNE2):c.9023T>C (p.Ile3008Thr) rs115969845 0.01198
NM_001848.3(COL6A1):c.2061C>A (p.Leu687=) rs8132678 0.01197
NM_198576.4(AGRN):c.3570C>T (p.Arg1190=) rs75361935 0.01197
NM_182914.3(SYNE2):c.15794T>C (p.Val5265Ala) rs142660236 0.01196
NM_001267550.2(TTN):c.1003G>A (p.Val335Met) rs72647846 0.01195
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364 0.01193
NM_001164508.2(NEB):c.18113A>G (p.Asn6038Ser) rs16830236 0.01192
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=) rs55977045 0.01192
NM_004525.3(LRP2):c.13250G>A (p.Gly4417Asp) rs41268685 0.01191
NM_152564.5(VPS13B):c.10155G>A (p.Glu3385=) rs115369860 0.01189
NM_198525.3(KIF7):c.2481C>T (p.Asn827=) rs35837280 0.01186
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile) rs72650028 0.01184
NM_012156.2(EPB41L1):c.873+7C>G rs111572179 0.01182
NM_173630.4(RTTN):c.1665C>A (p.Asn555Lys) rs34353615 0.01182
NM_173630.4(RTTN):c.1842A>G (p.Glu614=) rs140245773 0.01182
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=) rs73419228 0.01181
NM_007137.5(ZNF81):c.350G>T (p.Gly117Val) rs17147793 0.01180
NM_173630.4(RTTN):c.5060C>G (p.Ser1687Cys) rs34717557 0.01180
NM_031407.7(HUWE1):c.99A>G (p.Gln33=) rs61743595 0.01179
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920 0.01176
NM_005045.4(RELN):c.3839G>A (p.Gly1280Glu) rs55689103 0.01176
NM_173630.4(RTTN):c.1008-4G>T rs151203272 0.01176
NM_031407.7(HUWE1):c.5716+5G>A rs139135300 0.01175
NM_182961.4(SYNE1):c.22516A>G (p.Ser7506Gly) rs35763277 0.01174
NM_004268.5(MED17):c.1482A>G (p.Gln494=) rs34380494 0.01172
NM_020717.5(SHROOM4):c.3734C>T (p.Ser1245Leu) rs12689863 0.01172
NM_001267550.2(TTN):c.1398+8C>T rs72647848 0.01171
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu) rs115857753 0.01168
NM_003070.5(SMARCA2):c.4590C>T (p.Ser1530=) rs77070978 0.01166
NM_017890.5(VPS13B):c.4247G>A (p.Arg1416Gln) rs75933366 0.01162
NM_001614.5(ACTG1):c.177G>A (p.Gln59=) rs11549220 0.01161
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371 0.01150
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr) rs55880440 0.01150
NM_133259.4(LRPPRC):c.2562A>G (p.Val854=) rs4494798 0.01150
NM_001849.4(COL6A2):c.2592G>A (p.Thr864=) rs1042930 0.01149
NM_004369.4(COL6A3):c.768C>T (p.Val256=) rs79606264 0.01148
NM_025099.6(CTC1):c.1383G>A (p.Gln461=) rs145192682 0.01148
NM_001048166.1(STIL):c.2017A>G (p.Ser673Gly) rs140448154 0.01146
NM_014254.3(RXYLT1):c.469G>A (p.Val157Ile) rs114036100 0.01144
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=) rs114145817 0.01143
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_001371596.2(MFSD8):c.573A>G (p.Thr191=) rs115275192 0.01140
NM_003482.4(KMT2D):c.8047-15C>T rs202244933 0.01140
NM_005045.4(RELN):c.9714C>T (p.His3238=) rs78218774 0.01139
NM_018941.4(CLN8):c.274C>T (p.His92Tyr) rs34030778 0.01138
NM_019892.6(INPP5E):c.531C>A (p.Ala177=) rs58206296 0.01135
NM_032119.4(ADGRV1):c.5747C>T (p.Thr1916Ile) rs35791889 0.01134
NM_032119.4(ADGRV1):c.7293C>T (p.Ala2431=) rs77791584 0.01133
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_001164508.2(NEB):c.23495C>T (p.Thr7832Ile) rs34368668 0.01129
NM_001101.5(ACTB):c.1023C>T (p.Ile341=) rs58704474 0.01128
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr) rs111033530 0.01127
NM_004782.4(SNAP29):c.-8C>G rs186825747 0.01122
NM_001848.3(COL6A1):c.645G>A (p.Ala215=) rs115292913 0.01120
NM_000550.3(TYRP1):c.278G>A (p.Arg93His) rs61752937 0.01118
NM_198576.4(AGRN):c.2025C>G (p.Gly675=) rs28484890 0.01118
NM_201384.3(PLEC):c.7266C>T (p.Leu2422=) rs117306121 0.01118
NM_001164508.2(NEB):c.5772C>T (p.Tyr1924=) rs77547727 0.01117
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=) rs72648935 0.01116
NM_001379500.1(COL18A1):c.241C>T (p.Arg81Trp) rs76658745 0.01115
NM_201384.3(PLEC):c.3192C>T (p.Arg1064=) rs73377210 0.01114
NM_000834.5(GRIN2B):c.2691C>T (p.Asn897=) rs35125534 0.01112
NM_001283009.2(RTEL1):c.2546G>A (p.Gly849Asp) rs190887884 0.01112
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073 0.01112
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167 0.01110
NM_001042413.2(GLIS3):c.938G>C (p.Gly313Ala) rs35154632 0.01104
NM_001164508.2(NEB):c.6717T>G (p.Ile2239Met) rs78733601 0.01102
NM_014795.4(ZEB2):c.930C>T (p.Tyr310=) rs6711223 0.01102
NM_018136.5(ASPM):c.2805T>C (p.Ser935=) rs113161395 0.01101
NM_032119.4(ADGRV1):c.7945+6C>T rs139278305 0.01100
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu) rs77853750 0.01096
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046 0.01096
NM_020320.5(RARS2):c.606C>T (p.Leu202=) rs75794097 0.01095
NM_198576.4(AGRN):c.2406C>T (p.Gly802=) rs75774767 0.01095
NM_213622.4(STAMBP):c.921G>T (p.Gly307=) rs77000353 0.01095
NM_006412.4(AGPAT2):c.702C>T (p.Ser234=) rs116951119 0.01094
NM_017780.4(CHD7):c.4534-13T>G rs114996731 0.01094
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met) rs55865284 0.01093
NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg) rs11098943 0.01088
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
NM_182961.4(SYNE1):c.10522T>C (p.Leu3508=) rs62426382 0.01086
NM_032531.4(KIRREL3):c.2151C>T (p.Ser717=) rs34844660 0.01083
NM_201384.3(PLEC):c.5477G>A (p.Arg1826Gln) rs147838690 0.01083
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670 0.01082
NM_001101362.3(KBTBD13):c.1197C>T (p.Arg399=) rs150830358 0.01081
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn) rs3739186 0.01081
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser) rs67254537 0.01080
NM_020987.5(ANK3):c.382A>G (p.Thr128Ala) rs114937210 0.01080
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 0.01080
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val) rs66961115 0.01079
NM_001134831.2(AHI1):c.804A>C (p.Ser268=) rs35528530 0.01078
NM_012233.3(RAB3GAP1):c.1325A>G (p.Tyr442Cys) rs114901298 0.01077
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_001164508.2(NEB):c.5763+4C>T rs78916288 0.01075
NM_014141.6(CNTNAP2):c.1854C>T (p.Gly618=) rs61732849 0.01075
NM_024753.5(TTC21B):c.2742C>T (p.Cys914=) rs73018799 0.01072
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=) rs114771537 0.01071
NM_001164508.2(NEB):c.5567G>A (p.Arg1856Gln) rs141930814 0.01071
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555 0.01070
NM_173660.5(DOK7):c.782G>A (p.Arg261His) rs16844460 0.01070
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) rs1805069 0.01068
NM_001127644.2(GABRA1):c.96A>G (p.Gln32=) rs76224028 0.01067
NM_005045.4(RELN):c.1799C>T (p.Ser600Phe) rs78008536 0.01065
NM_201384.3(PLEC):c.10058G>C (p.Gly3353Ala) rs35261863 0.01065
NM_004525.3(LRP2):c.13134C>G (p.Pro4378=) rs73970129 0.01063
NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=) rs41292143 0.01062
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr) rs113155945 0.01061
NM_020451.3(SELENON):c.583G>A (p.Ala195Thr) rs115852080 0.01060
NM_001429.4(EP300):c.2019T>C (p.Pro673=) rs2230110 0.01054
NM_031466.8(TRAPPC9):c.-11+10G>A rs117206975 0.01054
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala) rs16019 0.01053
NM_006059.4(LAMC3):c.1792G>A (p.Gly598Arg) rs116422150 0.01053
NM_006279.5(ST3GAL3):c.398-7T>C rs114112844 0.01051
NM_198576.4(AGRN):c.4452C>T (p.Thr1484=) rs75767981 0.01049
NM_001291303.3(FAT4):c.13605G>A (p.Lys4535=) rs75469760 0.01048
NM_144508.5(KNL1):c.1493T>A (p.Ile498Asn) rs59648663 0.01046
NM_004525.3(LRP2):c.10804G>A (p.Ala3602Thr) rs144081819 0.01045
NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=) rs76576806 0.01043
NM_012233.3(RAB3GAP1):c.357A>G (p.Val119=) rs73959261 0.01043
NM_000747.3(CHRNB1):c.1259T>C (p.Ile420Thr) rs76927517 0.01042
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=) rs719202 0.01042
NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg) rs35198096 0.01041
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=) rs62636653 0.01037
NM_001184.4(ATR):c.891G>C (p.Lys297Asn) rs2229033 0.01036
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His) rs140192268 0.01034
NM_025009.5(CEP135):c.2724A>G (p.Arg908=) rs113687114 0.01034
NM_001194998.2(CEP152):c.1577+6G>A rs78525896 0.01033
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=) rs73036373 0.01031
NM_004525.3(LRP2):c.5293G>A (p.Val1765Met) rs116456291 0.01031
NM_024809.5(TCTN2):c.898C>T (p.Leu300=) rs77804131 0.01030
NM_000352.6(ABCC8):c.2538C>T (p.His846=) rs73423037 0.01028
NM_024809.5(TCTN2):c.2041T>C (p.Leu681=) rs112158562 0.01028
NM_001040142.2(SCN2A):c.1785T>C (p.Asp595=) rs141815642 0.01027
NM_003863.4(DPM2):c.183G>A (p.Leu61=) rs11552794 0.01027
NM_007325.5(GRIA3):c.15G>A (p.Lys5=) rs61740996 0.01027
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) rs35889956 0.01026
NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707 0.01025
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=) rs62636220 0.01025
NM_020987.5(ANK3):c.7715T>C (p.Ile2572Thr) rs61732398 0.01022
NM_004525.3(LRP2):c.9033-8T>C rs140148483 0.01021
NM_001184.4(ATR):c.5868C>T (p.Tyr1956=) rs112018640 0.01020
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile) rs72646850 0.01020
NM_001077365.2(POMT1):c.1125C>T (p.His375=) rs35242383 0.01019
NM_001849.4(COL6A2):c.2983G>A (p.Ala995Thr) rs35139588 0.01019
NM_001371623.1(TCOF1):c.162A>G (p.Gln54=) rs73270831 0.01015
NM_004369.4(COL6A3):c.4005C>T (p.Gly1335=) rs34503558 0.01014
NM_024884.3(L2HGDH):c.99G>T (p.Arg33Ser) rs35710558 0.01014
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314 0.01013
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly) rs72648951 0.01012
NM_000352.6(ABCC8):c.423G>A (p.Val141=) rs116132921 0.01009
NM_004519.4(KCNQ3):c.1059C>T (p.Ser353=) rs35413925 0.01009
NM_020549.5(CHAT):c.2067C>T (p.Ile689=) rs3793801 0.01009
NM_001382430.1(AKT1):c.1251C>T (p.Tyr417=) rs139297659 0.01008
NM_001848.3(COL6A1):c.2441A>G (p.Lys814Arg) rs11553518 0.01008
NM_007294.4(BRCA1):c.*1332G>A rs8176320 0.01007
NM_024884.3(L2HGDH):c.840A>G (p.Pro280=) rs72683923 0.01007
NM_177438.3(DICER1):c.4206+9del rs368080354 0.01007
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln) rs121912497 0.01005
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102 0.01003
NM_001079802.2(FKTN):c.42G>A (p.Thr14=) rs78794935 0.01002
NM_005120.3(MED12):c.5535C>T (p.Asn1845=) rs34784349 0.01002
NM_207346.3(TSEN54):c.1328C>G (p.Ser443Cys) rs150169668 0.01002
NM_001160372.4(TRAPPC9):c.1869C>T (p.Ser623=) rs117685875 0.01001
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val) rs16868935 0.01001
NM_173500.4(TTBK2):c.2592A>G (p.Glu864=) rs56307230 0.01001
NM_001079802.2(FKTN):c.106-10G>A rs148384394 0.01000
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723 0.01000
NM_004525.3(LRP2):c.5085G>A (p.Ser1695=) rs145384264 0.00999
NM_000136.3(FANCC):c.-155A>C rs549658720 0.00998
NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys) rs61735835 0.00998
NM_032444.4(SLX4):c.4338C>T (p.Thr1446=) rs77718962 0.00998
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=) rs184883626 0.00997
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala) rs61755434 0.00997
NM_032444.4(SLX4):c.5146T>A (p.Ser1716Thr) rs75182789 0.00995
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) rs199644078 0.00993
NM_001371623.1(TCOF1):c.2245C>T (p.Pro749Ser) rs73270846 0.00993
NM_001999.4(FBN2):c.2778C>T (p.Ala926=) rs28763948 0.00992
NM_002578.5(PAK3):c.1185C>T (p.Leu395=) rs150174049 0.00992
NM_213599.3(ANO5):c.1029C>T (p.Asp343=) rs78899595 0.00992
NM_000540.3(RYR1):c.11625G>A (p.Ala3875=) rs61729397 0.00991
NM_032119.4(ADGRV1):c.11031C>T (p.Asn3677=) rs75480336 0.00991
NM_181523.3(PIK3R1):c.*3C>T rs41268435 0.00989
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) rs35706972 0.00982
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) rs147266709 0.00982
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141 0.00982
NM_020921.4(NIN):c.600T>C (p.Gly200=) rs61740039 0.00982
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_030928.4(CDT1):c.130A>C (p.Thr44Pro) rs587780306 0.00981
NM_001077365.2(POMT1):c.78G>A (p.Gly26=) rs149554732 0.00980
NM_001379500.1(COL18A1):c.3610G>A (p.Ala1204Thr) rs144147445 0.00980
NM_001843.4(CNTN1):c.2324G>A (p.Ser775Asn) rs34326474 0.00980
NM_000064.4(C3):c.4457-5C>T rs344554 0.00979
NM_201384.3(PLEC):c.10986C>T (p.Thr3662=) rs35134741 0.00977
NM_005445.4(SMC3):c.1092-8T>G rs79912955 0.00975
NM_006059.4(LAMC3):c.454C>T (p.Arg152Cys) rs45628035 0.00975
NM_007137.5(ZNF81):c.554C>T (p.Ser185Leu) rs186251256 0.00975
NM_003070.5(SMARCA2):c.462G>A (p.Gly154=) rs61736900 0.00974
NM_032444.4(SLX4):c.999C>T (p.Ile333=) rs7198338 0.00974
NM_000231.3(SGCG):c.435C>T (p.Asn145=) rs35628352 0.00973
NM_198334.3(GANAB):c.2548C>T (p.His850Tyr) rs114915323 0.00973
NM_001164508.2(NEB):c.18555G>A (p.Lys6185=) rs145252235 0.00972
NM_001843.4(CNTN1):c.2670A>T (p.Gly890=) rs34346038 0.00972
NM_000540.3(RYR1):c.7737G>A (p.Val2579=) rs114975624 0.00971
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415 0.00969
NM_007325.5(GRIA3):c.1501-8T>A rs139058646 0.00969
NM_018100.4(EFHC1):c.881G>A (p.Arg294His) rs1570624 0.00969
NM_019066.5(MAGEL2):c.2611G>T (p.Ala871Ser) rs2233066 0.00969
NM_019066.5(MAGEL2):c.2612C>T (p.Ala871Val) rs74004212 0.00969
NM_201384.3(PLEC):c.2832C>T (p.Gly944=) rs145050858 0.00969
NM_198271.5(LMOD3):c.252G>A (p.Met84Ile) rs78574883 0.00968
NM_198271.5(LMOD3):c.253C>A (p.Leu85Met) rs80113271 0.00968
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys) rs12471771 0.00967
NM_182961.4(SYNE1):c.18801C>T (p.Thr6267=) rs116007471 0.00967
NM_000479.5(AMH):c.974A>G (p.Gln325Arg) rs140765565 0.00966
NM_001374828.1(ARID1B):c.3828G>A (p.Glu1276=) rs61745451 0.00966
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_012301.4(MAGI2):c.2379C>T (p.Leu793=) rs73703715 0.00966
NM_001184.4(ATR):c.6339A>G (p.Val2113=) rs7635479 0.00964
NM_001164508.2(NEB):c.21519C>T (p.Ser7173=) rs16830170 0.00961
NM_001083961.2(WDR62):c.1642+8C>T rs143309981 0.00960
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu) rs2227968 0.00959
NM_001101362.3(KBTBD13):c.794G>A (p.Gly265Asp) rs146917406 0.00958
NM_032119.4(ADGRV1):c.1839+7G>A rs142011700 0.00957
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439 0.00956
NM_004525.3(LRP2):c.1172-8G>A rs115371758 0.00955
NM_005881.4(BCKDK):c.845+10C>T rs74015068 0.00955
NM_018136.5(ASPM):c.7917A>G (p.Lys2639=) rs112647911 0.00953
NM_198253.2(TERT):c.-218C>G rs34233268 0.00953
NM_004525.3(LRP2):c.1167T>G (p.Asp389Glu) rs111704488 0.00952
NM_144508.5(KNL1):c.3810G>A (p.Ala1270=) rs34758606 0.00949
NM_152783.5(D2HGDH):c.1063G>A (p.Gly355Ser) rs139321130 0.00949
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00948
NM_001042413.2(GLIS3):c.171C>T (p.Asn57=) rs117802495 0.00947
NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu) rs62637610 0.00947
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168 0.00946
NM_016373.4(WWOX):c.885G>A (p.Arg295=) rs79771882 0.00946
NM_001972.4(ELANE):c.655G>A (p.Val219Ile) rs17216656 0.00945
NM_004998.4(MYO1E):c.2130G>A (p.Val710=) rs114132435 0.00944
NM_012096.3(APPL1):c.36G>C (p.Thr12=) rs79282761 0.00944
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810 0.00942
NM_019066.5(MAGEL2):c.3229T>C (p.Leu1077=) rs2233071 0.00936
NM_001164508.2(NEB):c.21044C>G (p.Ser7015Cys) rs62167164 0.00935
NM_017668.3(NDE1):c.572C>T (p.Thr191Ile) rs113493697 0.00935
NM_139343.3(BIN1):c.1263+11C>T rs78967885 0.00935
NM_015192.4(PLCB1):c.2413+9C>T rs138442805 0.00934
NM_024596.5(MCPH1):c.2453-14C>T rs17077744 0.00931
NM_004655.4(AXIN2):c.1573C>G (p.Pro525Ala) rs73346297 0.00930
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850 0.00928
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln) rs112545413 0.00927
NM_032575.3(GLIS2):c.1259C>T (p.Pro420Leu) rs75495782 0.00923
NM_001848.3(COL6A1):c.2424G>T (p.Gln808His) rs140547835 0.00922
NM_003863.4(DPM2):c.177C>T (p.Leu59=) rs35334863 0.00922
NM_015559.3(SETBP1):c.4129G>C (p.Val1377Leu) rs77518617 0.00922
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala) rs78266558 0.00922
NM_001160372.4(TRAPPC9):c.456C>T (p.Ile152=) rs61740786 0.00921
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_002582.4(PARN):c.1383T>C (p.Leu461=) rs143472178 0.00920
NM_000751.3(CHRND):c.243C>T (p.His81=) rs115841867 0.00919
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=) rs41274568 0.00917
NM_004826.4(ECEL1):c.967-7C>G rs76735188 0.00917
NM_020937.4(FANCM):c.5190G>A (p.Gln1730=) rs7142192 0.00916
NM_182961.4(SYNE1):c.12057G>A (p.Ala4019=) rs144596829 0.00916
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) rs62178963 0.00915
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843 0.00914
NM_001164508.2(NEB):c.11769T>C (p.Ile3923=) rs80320923 0.00914
NM_001164508.2(NEB):c.19311C>T (p.Ser6437=) rs16830216 0.00914
NM_020937.4(FANCM):c.3863A>G (p.Asn1288Ser) rs116519044 0.00914
NM_000023.4(SGCA):c.528C>T (p.Thr176=) rs1801190 0.00912
NM_001160372.4(TRAPPC9):c.414C>T (p.Tyr138=) rs115986561 0.00912
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_004826.4(ECEL1):c.426C>A (p.Asp142Glu) rs144928688 0.00909
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=) rs139524103 0.00909
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625 0.00908
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=) rs73025979 0.00908
NM_004836.7(EIF2AK3):c.1756A>T (p.Ile586Leu) rs75385605 0.00906
NM_147127.5(EVC2):c.1311A>G (p.Leu437=) rs77131452 0.00904
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) rs117942457 0.00902
NM_007254.4(PNKP):c.1127-8C>T rs3739203 0.00901
NM_000426.4(LAMA2):c.1930C>G (p.His644Asp) rs35879899 0.00899
NM_000744.7(CHRNA4):c.24G>C (p.Ala8=) rs6089898 0.00898
NM_182961.4(SYNE1):c.26209G>A (p.Gly8737Ser) rs2295191 0.00898
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303 0.00897
NM_198525.3(KIF7):c.2271C>T (p.Ala757=) rs35451920 0.00897
NM_001032221.6(STXBP1):c.1356C>T (p.Thr452=) rs35099393 0.00894
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr) rs191886831 0.00894
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=) rs34541442 0.00893
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala) rs150047904 0.00893
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=) rs34355967 0.00892
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747 0.00892
UGT1A1*6 rs4148323 0.00891
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr) rs11570680 0.00890
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_001999.4(FBN2):c.1466-5C>T rs28763952 0.00887
NM_133642.5(LARGE1):c.552G>A (p.Thr184=) rs8142483 0.00887
NM_016222.4(DDX41):c.*3C>T rs73804364 0.00886
NM_000195.5(HPS1):c.255+9A>G rs78927693 0.00885
NM_004369.4(COL6A3):c.6156+4C>T rs111228504 0.00884
NM_133642.5(LARGE1):c.2073+36C>T rs41302579 0.00883
NM_004268.5(MED17):c.1071T>A (p.Phe357Leu) rs35313315 0.00877
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053 0.00876
NM_000540.3(RYR1):c.10259+7G>A rs143752962 0.00875
NM_004752.4(GCM2):c.844T>G (p.Tyr282Asp) rs61734277 0.00874
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=) rs193922854 0.00873
NM_014159.7(SETD2):c.3249A>C (p.Thr1083=) rs80241480 0.00871
NM_198428.3(BBS9):c.555C>T (p.Ala185=) rs35440033 0.00871
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572 0.00870
NM_014159.7(SETD2):c.2543C>T (p.Ala848Val) rs75248784 0.00870
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=) rs55980657 0.00869
NM_022437.3(ABCG8):c.51C>A (p.Pro17=) rs72647316 0.00868
NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala) rs34369939 0.00867
NM_014832.5(TBC1D4):c.1587C>T (p.His529=) rs61737964 0.00867
NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val) rs141309384 0.00866
NM_019066.5(MAGEL2):c.1446T>C (p.Ala482=) rs2233065 0.00866
NM_000426.4(LAMA2):c.8548-10T>C rs113644365 0.00865
NM_020937.4(FANCM):c.5656C>T (p.His1886Tyr) rs79343837 0.00864
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_001244008.2(KIF1A):c.4812C>A (p.Thr1604=) rs76974316 0.00862
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_018249.6(CDK5RAP2):c.307-4G>A rs7030969 0.00860
NM_005228.5(EGFR):c.1509C>T (p.Gly503=) rs17336800 0.00859
NM_000426.4(LAMA2):c.9123C>T (p.Val3041=) rs61749497 0.00858
NM_020921.4(NIN):c.3454G>T (p.Val1152Phe) rs61742284 0.00858
NM_001164508.2(NEB):c.6159G>A (p.Lys2053=) rs140186806 0.00856
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=) rs140237315 0.00855
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala) rs34799090 0.00854
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541 0.00853
NM_001378030.1(CCDC78):c.712A>C (p.Lys238Gln) rs142136104 0.00853
NM_006009.4(TUBA1A):c.1008G>A (p.Lys336=) rs11829764 0.00853
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00852
NM_201384.3(PLEC):c.1752C>T (p.Pro584=) rs185978075 0.00852
NM_005228.5(EGFR):c.2047C>T (p.Leu683=) rs55669340 0.00851
NM_018648.4(NOP10):c.34G>C (p.Asp12His) rs146261631 0.00851
NM_032444.4(SLX4):c.710G>A (p.Arg237Gln) rs138615800 0.00848
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val) rs75937132 0.00847
NM_004187.5(KDM5C):c.1884G>A (p.Gln628=) rs74850270 0.00847
NM_016648.4(LARP7):c.651G>C (p.Glu217Asp) rs141178932 0.00846
NM_130398.4(EXO1):c.2276G>A (p.Gly759Glu) rs4150001 0.00846
NM_002693.3(POLG):c.2109C>A (p.Ala703=) rs2307429 0.00845
NM_152783.5(D2HGDH):c.43C>G (p.Arg15Gly) rs4675887 0.00845
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750 0.00844
NM_018136.5(ASPM):c.7023C>T (p.Ile2341=) rs115891952 0.00843
NM_001458.5(FLNC):c.6771A>G (p.Pro2257=) rs34422412 0.00842
NM_015922.3(NSDHL):c.942C>T (p.Ile314=) rs35375481 0.00841
NM_019066.5(MAGEL2):c.383T>C (p.Leu128Pro) rs191559595 0.00841
NM_024334.3(TMEM43):c.222C>T (p.Pro74=) rs34099410 0.00841
NM_182961.4(SYNE1):c.10022T>C (p.Val3341Ala) rs138693624 0.00841
NM_001330078.2(NRXN1):c.772+1140G>A rs61658382 0.00837
NM_003072.5(SMARCA4):c.930C>A (p.Arg310=) rs146141457 0.00837
NM_001429.4(EP300):c.2998-12G>A rs115849119 0.00836
NM_030973.4(MED25):c.1727C>G (p.Ala576Gly) rs193291405 0.00836
NM_004525.3(LRP2):c.11996T>G (p.Val3999Gly) rs79723119 0.00834
NM_024596.5(MCPH1):c.1738A>G (p.Ser580Gly) rs17076894 0.00834
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_002067.5(GNA11):c.141G>A (p.Thr47=) rs61731117 0.00832
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155 0.00831
NM_017791.3(FLVCR2):c.835C>T (p.Pro279Ser) rs45479302 0.00830
NM_001807.6(CEL):c.2064C>G (p.Gly688=) rs373329036 0.00828
NM_020921.4(NIN):c.4674G>A (p.Thr1558=) rs45578537 0.00828
NM_198525.3(KIF7):c.3012C>T (p.Arg1004=) rs61741227 0.00828
NM_001160372.4(TRAPPC9):c.1458C>T (p.Phe486=) rs34179337 0.00827
NM_001904.4(CTNNB1):c.14-4A>G rs5743391 0.00827
NM_003924.4(PHOX2B):c.750G>A (p.Ala250=) rs17882335 0.00827
NM_012233.3(RAB3GAP1):c.2463C>T (p.Phe821=) rs61748693 0.00825
NM_020549.5(CHAT):c.1682G>A (p.Arg561Gln) rs80097077 0.00825
NM_018136.5(ASPM):c.*158T>C rs41265225 0.00824
NM_020549.5(CHAT):c.711C>G (p.Ser237Arg) rs78925077 0.00824
NM_004525.3(LRP2):c.2175C>T (p.Thr725=) rs141180155 0.00820
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721 0.00820
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met) rs34741387 0.00817
NM_182914.3(SYNE2):c.16305G>A (p.Leu5435=) rs116758464 0.00817
NM_000080.4(CHRNE):c.1017C>G (p.Ser339=) rs114454383 0.00816
NM_003073.5(SMARCB1):c.362+7C>T rs34746244 0.00815
NM_020921.4(NIN):c.264A>T (p.Pro88=) rs61755037 0.00815
NM_030787.4(CFHR5):c.832G>A (p.Gly278Ser) rs139017763 0.00815
NM_144508.5(KNL1):c.5151T>C (p.Pro1717=) rs74377704 0.00815
NM_001184.4(ATR):c.268C>T (p.His90Tyr) rs28897763 0.00813
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_032444.4(SLX4):c.1898G>A (p.Gly633Asp) rs1056085 0.00810
NM_001015877.2(PHF6):c.927C>T (p.Asp309=) rs112199174 0.00809
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301 0.00809
NM_001194998.2(CEP152):c.2378G>T (p.Ser793Ile) rs2289178 0.00809
NM_006086.4(TUBB3):c.1215G>A (p.Glu405=) rs141064323 0.00809
NM_001079802.2(FKTN):c.166-6A>G rs41277795 0.00808
NM_004364.5(CEBPA):c.693C>G (p.Pro231=) rs550308123 0.00808
NM_001079802.2(FKTN):c.910+14G>A rs76180538 0.00806
NM_000096.4(CP):c.3182-4A>G rs34272112 0.00805
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) rs61910685 0.00804
NM_006086.4(TUBB3):c.702C>T (p.Ser234=) rs147245174 0.00803
NM_002465.4(MYBPC1):c.2010C>T (p.Tyr670=) rs77045393 0.00802
NM_004782.4(SNAP29):c.130T>C (p.Tyr44His) rs116644127 0.00802
NM_000540.3(RYR1):c.13464G>A (p.Pro4488=) rs10405232 0.00800
NM_198576.4(AGRN):c.3964C>T (p.Arg1322Trp) rs184970403 0.00799
NM_198576.4(AGRN):c.3972G>A (p.Pro1324=) rs201483077 0.00799
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744 0.00795
NM_024757.5(EHMT1):c.1369+9C>T rs146125583 0.00794
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=) rs80039127 0.00793
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406 0.00792
NM_002470.4(MYH3):c.3726T>C (p.Ser1242=) rs77946261 0.00792
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=) rs116660078 0.00791
NM_020937.4(FANCM):c.2445G>A (p.Ser815=) rs61745871 0.00791
NM_173660.5(DOK7):c.332-4G>A rs199578351 0.00790
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys) rs34058399 0.00789
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) rs149055334 0.00789
NM_002693.3(POLG):c.3561G>C (p.Arg1187=) rs62640037 0.00787
NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met) rs78461695 0.00787
NM_002693.3(POLG):c.3644-9A>G rs115048121 0.00785
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_015426.5(POC1A):c.915T>G (p.Val305=) rs115238307 0.00784
NM_207361.6(FREM2):c.1518C>T (p.Ser506=) rs141821695 0.00784
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_170707.4(LMNA):c.438C>T (p.Ala146=) rs80356805 0.00782
NM_014915.3(ANKRD26):c.3655G>A (p.Val1219Ile) rs146819984 0.00781
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=) rs150761878 0.00781
NM_198576.4(AGRN):c.4540G>A (p.Ala1514Thr) rs111818381 0.00781
NM_004364.5(CEBPA):c.756G>T (p.Ala252=) rs571969199 0.00778
NM_018100.4(EFHC1):c.662G>A (p.Arg221His) rs79761183 0.00778
NM_003661.4(APOL1):c.792C>A (p.Asn264Lys) rs73885316 0.00777
NM_177438.3(DICER1):c.2370G>A (p.Arg790=) rs112712209 0.00777
NM_000141.5(FGFR2):c.294G>A (p.Thr98=) rs1047101 0.00776
NM_001130987.2(DYSF):c.4430A>G (p.Asp1477Gly) rs61738567 0.00775
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356 0.00774
NM_002113.3(CFHR1):c.790+1G>A rs140799744 0.00774
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871 0.00774
NM_015421.4(TMEM186):c.1A>G (p.Met1Val) rs147436106 0.00773
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054 0.00771
NM_006031.6(PCNT):c.4910C>T (p.Pro1637Leu) rs34849154 0.00771
NM_006031.6(PCNT):c.7159G>A (p.Val2387Met) rs75024419 0.00771
NM_006218.4(PIK3CA):c.363C>T (p.Ile121=) rs115746478 0.00769
NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=) rs111033429 0.00767
NM_000702.4(ATP1A2):c.129G>A (p.Lys43=) rs61734527 0.00766
NM_000540.3(RYR1):c.906C>T (p.Asp302=) rs145943283 0.00765
NM_006031.6(PCNT):c.7914-4G>A rs76287849 0.00764
NM_030787.4(CFHR5):c.1704T>A (p.Cys568Ter) rs143140599 0.00764
NM_004519.4(KCNQ3):c.1551C>T (p.Ala517=) rs35538317 0.00761
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_182961.4(SYNE1):c.156T>C (p.Asp52=) rs139156106 0.00761
NM_001080.3(ALDH5A1):c.10T>G (p.Cys4Gly) rs200793796 0.00760
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736 0.00760
NM_006031.6(PCNT):c.7404G>C (p.Gln2468His) rs77075366 0.00759
NM_022552.5(DNMT3A):c.759C>T (p.Pro253=) rs77558739 0.00759
NM_022725.4(FANCF):c.387C>T (p.Leu129=) rs45556032 0.00759
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) rs147155126 0.00758
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320 0.00758
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His) rs59887778 0.00758
NM_001371928.1(AHDC1):c.1326C>T (p.Gly442=) rs188125472 0.00758
NM_006996.3(SLC19A2):c.796G>A (p.Val266Met) rs75099879 0.00758
NM_015426.5(POC1A):c.149C>T (p.Pro50Leu) rs11546882 0.00758
NM_020921.4(NIN):c.5903C>T (p.Thr1968Met) rs61744312 0.00758
NM_025077.4(TOE1):c.1141G>A (p.Glu381Lys) rs61323219 0.00757
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375 0.00756
NM_181332.3(NLGN4X):c.1777C>T (p.Leu593Phe) rs3747333 0.00756
NM_007059.4(KPTN):c.631G>C (p.Gly211Arg) rs182019900 0.00755
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg) rs7528827 0.00754
NM_144988.4(ALG14):c.31G>A (p.Ala11Thr) rs34364382 0.00753
NM_004364.5(CEBPA):c.1041G>A (p.Glu347=) rs141430731 0.00752
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597 0.00750
NM_020921.4(NIN):c.5188T>C (p.Leu1730=) rs61741547 0.00749
NM_001005361.3(DNM2):c.235+6A>G rs113192269 0.00748
NM_015114.3(ANKLE2):c.1986C>T (p.Ser662=) rs114132434 0.00748
NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser) rs116716038 0.00747
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val) rs61754118 0.00745
NM_001083961.2(WDR62):c.*5G>A rs61740165 0.00745
NM_001130987.2(DYSF):c.1380+6G>C rs75796187 0.00745
NM_006766.5(KAT6A):c.4324G>A (p.Ala1442Thr) rs113195648 0.00745
NM_001813.3(CENPE):c.3529A>T (p.Met1177Leu) rs35975325 0.00742
NM_152564.5(VPS13B):c.5517G>A (p.Gln1839=) rs61742808 0.00740
NM_000334.4(SCN4A):c.3441+7G>A rs142270113 0.00738
NM_001018115.3(FANCD2):c.195G>C (p.Gln65His) rs36084488 0.00738
NM_006059.4(LAMC3):c.3371C>T (p.Ser1124Phe) rs113259170 0.00738
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_001330078.2(NRXN1):c.3408G>A (p.Thr1136=) rs80094872 0.00737
NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln) rs183329050 0.00737
NM_030632.3(ASXL3):c.5991A>G (p.Lys1997=) rs75411012 0.00737
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888 0.00736
NM_001368809.2(AMPD2):c.223-4C>T rs116223306 0.00736
NM_020461.4(TUBGCP6):c.5181G>A (p.Thr1727=) rs35231253 0.00736
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg) rs192925278 0.00734
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile) rs35707762 0.00734
NM_018013.4(SOBP):c.319A>G (p.Thr107Ala) rs148915050 0.00734
NM_000372.5(TYR):c.835T>C (p.Leu279=) rs4987234 0.00733
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783 0.00733
NM_019066.5(MAGEL2):c.1079C>T (p.Ala360Val) rs111759069 0.00733
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603 0.00732
NM_007294.4(BRCA1):c.*781C>T rs8176319 0.00732
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447 0.00731
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=) rs45464693 0.00730
NM_198525.3(KIF7):c.3999G>C (p.Pro1333=) rs137993810 0.00730
NM_001353108.3(CEP63):c.1155C>A (p.Asn385Lys) rs34189216 0.00729
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys) rs146953558 0.00728
NM_001374828.1(ARID1B):c.5576A>C (p.Glu1859Ala) rs149518409 0.00727
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509 0.00723
NM_002472.3(MYH8):c.3686T>C (p.Met1229Thr) rs35962914 0.00723
NM_012301.4(MAGI2):c.2329T>C (p.Leu777=) rs76346657 0.00722
NM_001174150.2(ARL13B):c.105C>T (p.Thr35=) rs146396078 0.00721
NM_015192.4(PLCB1):c.458A>T (p.Glu153Val) rs45496299 0.00721
NM_001082538.3(TCTN1):c.220+12G>C rs76843552 0.00719
NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr) rs77014998 0.00719
NM_018136.5(ASPM):c.5629G>A (p.Ala1877Thr) rs112230218 0.00719
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381 0.00715
NM_201384.3(PLEC):c.4635G>A (p.Ala1545=) rs76426116 0.00714
NM_001276270.2(MBD4):c.1073T>C (p.Ile358Thr) rs2307298 0.00713
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_032119.4(ADGRV1):c.13037C>T (p.Pro4346Leu) rs74632023 0.00712
NM_001365088.1(SLC12A6):c.2925G>A (p.Val975=) rs112835706 0.00711
NM_001848.3(COL6A1):c.1823-8G>A rs184666690 0.00711
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe) rs117125761 0.00708
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_201384.3(PLEC):c.9435C>T (p.Asp3145=) rs60091617 0.00708
NM_001379500.1(COL18A1):c.3673G>A (p.Val1225Met) rs77326997 0.00707
NM_006206.6(PDGFRA):c.672G>A (p.Val224=) rs151259376 0.00707
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_001008537.3(NEXMIF):c.151C>A (p.Pro51Thr) rs145018752 0.00705
NM_013339.4(ALG6):c.751A>G (p.Thr251Ala) rs61755863 0.00705
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00704
NM_001379110.1(SLC9A6):c.1662-4G>A rs188072063 0.00703
NM_006031.6(PCNT):c.2575G>A (p.Asp859Asn) rs115369710 0.00703
NM_004153.4(ORC1):c.1397C>T (p.Thr466Met) rs3087481 0.00702
NM_000041.4(APOE):c.487C>T (p.Arg163Cys) rs769455 0.00701
NM_014832.5(TBC1D4):c.2050C>G (p.Arg684Gly) rs61736969 0.00701
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser) rs3827522 0.00701
NM_006949.4(STXBP2):c.1191G>A (p.Ala397=) rs76836497 0.00700
NM_198576.4(AGRN):c.5726G>C (p.Ser1909Thr) rs74685771 0.00700
NM_001127222.2(CACNA1A):c.462C>T (p.Ala154=) rs1800039 0.00699
NM_000070.3(CAPN3):c.939G>A (p.Pro313=) rs78369269 0.00698
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895 0.00698
NM_006015.6(ARID1A):c.5114A>G (p.Asn1705Ser) rs61756316 0.00698
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=) rs12474306 0.00697
NM_001267550.2(TTN):c.56529G>A (p.Thr18843=) rs72646827 0.00697
NM_001267550.2(TTN):c.32722+9G>A rs148231130 0.00695
NM_000540.3(RYR1):c.7281C>T (p.Ala2427=) rs77310009 0.00694
NM_004260.4(RECQL4):c.-6C>T rs35827852 0.00694
NM_021784.5(FOXA2):c.298G>C (p.Ala100Pro) rs201350646 0.00694
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165 0.00694
NM_001015877.2(PHF6):c.729+4A>G rs188961105 0.00691
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=) rs16866423 0.00691
NM_003560.4(PLA2G6):c.2340C>T (p.Asn780=) rs138683183 0.00691
NM_017721.5(CC2D1A):c.566C>T (p.Ala189Val) rs61740117 0.00691
NM_198576.4(AGRN):c.5598C>T (p.Thr1866=) rs17778478 0.00691
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722 0.00690
NM_018136.5(ASPM):c.1987G>T (p.Ala663Ser) rs113611857 0.00689
NM_022436.3(ABCG5):c.775-10G>T rs114549158 0.00688
NM_173689.7(CRB2):c.1828C>T (p.Arg610Trp) rs145286619 0.00688
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_000540.3(RYR1):c.4055C>G (p.Ala1352Gly) rs112105381 0.00685
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser) rs147354926 0.00685
NM_019892.6(INPP5E):c.1770C>T (p.Leu590=) rs143552175 0.00685
NM_001126049.2(KLLN):c.-956G>T rs34149102 0.00683
NM_001267550.2(TTN):c.45083-10A>G rs72677222 0.00683
NM_004933.3(CDH15):c.2025G>A (p.Pro675=) rs62068507 0.00683
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656 0.00682
NM_017757.3(ZNF407):c.3075T>C (p.Ser1025=) rs78076450 0.00682
NM_000540.3(RYR1):c.3876C>A (p.Leu1292=) rs143750836 0.00681
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008 0.00681
NM_004387.4(NKX2-5):c.861C>T (p.Ala287=) rs77612903 0.00681
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_000516.7(GNAS):c.951C>T (p.Arg317=) rs75561530 0.00680
NM_001848.3(COL6A1):c.3054C>T (p.His1018=) rs141237809 0.00680
NM_021008.4(DEAF1):c.1634C>G (p.Ala545Gly) rs34114147 0.00680
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu) rs114472821 0.00679
NM_173689.7(CRB2):c.2709C>T (p.Arg903=) rs116379540 0.00679
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_000264.5(PTCH1):c.1119C>T (p.Tyr373=) rs2066831 0.00677
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_022437.3(ABCG8):c.1365C>T (p.Ile455=) rs115227860 0.00675
NM_000264.5(PTCH1):c.1074T>C (p.His358=) rs2066832 0.00674
NM_016373.4(WWOX):c.613C>A (p.His205Asn) rs74860463 0.00674
NM_001374828.1(ARID1B):c.2137-3T>A rs116661275 0.00673
NM_001377.3(DYNC2H1):c.10864C>A (p.Arg3622=) rs117178504 0.00672
NM_004836.6(EIF2AK3):c.-201A>G rs144057685 0.00671
NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=) rs149416418 0.00671
NM_001142784.3(IL11RA):c.72C>T (p.Ser24=) rs34893971 0.00670
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser) rs4986940 0.00670
NM_018993.4(RIN2):c.84C>T (p.Ile28=) rs181853315 0.00670
NM_030632.3(ASXL3):c.3555T>C (p.Ser1185=) rs61734143 0.00670
NM_000081.4(LYST):c.5945C>T (p.Thr1982Ile) rs146591126 0.00669
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924 0.00669
NM_022095.4(ZNF335):c.3180C>T (p.Pro1060=) rs61729182 0.00669
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=) rs72648258 0.00667
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) rs72648960 0.00666
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu) rs200121704 0.00665
NM_030787.4(CFHR5):c.429T>C (p.Thr143=) rs140215003 0.00665
NM_000208.4(INSR):c.2683-5C>T rs41306363 0.00664
NM_025077.4(TOE1):c.1176G>A (p.Leu392=) rs149142910 0.00664
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_004722.4(AP4M1):c.228C>T (p.Pro76=) rs41280965 0.00663
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=) rs139815570 0.00662
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_133444.3(ZNF526):c.501G>A (p.Thr167=) rs57984044 0.00657
NM_198576.4(AGRN):c.3465T>C (p.Ala1155=) rs146358566 0.00657
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly) rs61749367 0.00656
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948 0.00656
NM_018136.5(ASPM):c.3741+3A>G rs138558822 0.00656
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_000361.3(THBD):c.1504G>C (p.Gly502Arg) rs76135678 0.00655
NM_017654.4(SAMD9):c.4733T>C (p.Ile1578Thr) rs144380633 0.00655
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585 0.00654
NM_013275.6(ANKRD11):c.6106G>A (p.Asp2036Asn) rs201636725 0.00654
NM_153240.5(NPHP3):c.1887+6G>A rs79113972 0.00654
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307 0.00653
NM_004153.4(ORC1):c.806C>T (p.Ser269Leu) rs61753390 0.00653
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_006059.4(LAMC3):c.2352G>A (p.Arg784=) rs35654564 0.00652
NM_001194998.2(CEP152):c.4857T>C (p.Asp1619=) rs74986073 0.00651
NM_201384.3(PLEC):c.9966C>T (p.Val3322=) rs35613096 0.00651
NM_001080414.4(CCDC88C):c.5980C>G (p.Arg1994Gly) rs45560241 0.00650
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302 0.00650
NM_004655.4(AXIN2):c.2282C>A (p.Ala761Asp) rs79732150 0.00649
NM_032444.4(SLX4):c.1803G>A (p.Ser601=) rs144892556 0.00649
NM_182961.4(SYNE1):c.14107G>A (p.Asp4703Asn) rs116000545 0.00649
NM_201384.3(PLEC):c.4223C>T (p.Ala1408Val) rs111851716 0.00648
NM_001164508.2(NEB):c.8189A>G (p.Asp2730Gly) rs76767949 0.00646
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr) rs151181674 0.00646
NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=) rs112955915 0.00645
NM_001190274.2(FBXO11):c.*1173A>T rs2020906 0.00645
NM_006059.4(LAMC3):c.146A>G (p.Gln49Arg) rs201962705 0.00645
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937 0.00644
NM_016955.4(SEPSECS):c.935-5T>G rs2302564 0.00644
NM_000059.4(BRCA2):c.-175C>T rs55880202 0.00642
NM_001160372.4(TRAPPC9):c.2797G>A (p.Gly933Ser) rs114949291 0.00641
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys) rs28626194 0.00641
NM_002470.4(MYH3):c.3592G>A (p.Ala1198Thr) rs61735358 0.00641
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00640
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00640
NM_004393.6(DAG1):c.259A>G (p.Ile87Val) rs116717961 0.00640
NM_032444.4(SLX4):c.1755C>T (p.Pro585=) rs114016359 0.00638
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) rs139848884 0.00637
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00637
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_198576.4(AGRN):c.3866C>T (p.Pro1289Leu) rs139294803 0.00637
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu) rs35738915 0.00636
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=) rs76771282 0.00636
NM_022095.4(ZNF335):c.1963C>T (p.Pro655Ser) rs117132825 0.00636
NM_198576.4(AGRN):c.5353G>A (p.Asp1785Asn) rs144245019 0.00636
NM_001384732.1(CPLANE1):c.4134T>C (p.Pro1378=) rs79935028 0.00635
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=) rs34119447 0.00635
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly) rs146983095 0.00634
NM_015311.3(OBSL1):c.3003C>T (p.Ala1001=) rs150691758 0.00634
NM_015559.3(SETBP1):c.1491G>A (p.Pro497=) rs113053616 0.00634
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303 0.00633
NM_182961.4(SYNE1):c.3890C>T (p.Ala1297Val) rs35378260 0.00633
NM_003159.2(CDKL5):c.-391G>T rs191864898 0.00632
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571 0.00632
NM_014271.4(IL1RAPL1):c.1191G>A (p.Glu397=) rs7049358 0.00631
NM_153026.3(PRICKLE1):c.374T>C (p.Val125Ala) rs34837068 0.00631
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=) rs11915053 0.00629
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=) rs146072491 0.00628
NM_002666.5(PLIN1):c.1139C>T (p.Ala380Val) rs146385147 0.00628
NM_003922.4(HERC1):c.8088A>G (p.Thr2696=) rs76114496 0.00627
NM_199242.3(UNC13D):c.753+3G>A rs116229331 0.00627
NM_182914.3(SYNE2):c.5517A>T (p.Leu1839Phe) rs35883188 0.00626
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00625
NM_001366057.1(OTUD4):c.3003T>A (p.Ala1001=) rs147253069 0.00625
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val) rs2020957 0.00625
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170 0.00625
NM_152384.3(BBS5):c.620G>A (p.Arg207His) rs35487251 0.00625
NM_152743.4(BRAT1):c.1884C>T (p.Ala628=) rs142346283 0.00625
NM_173630.4(RTTN):c.6445G>A (p.Ala2149Thr) rs34989098 0.00624
NM_012452.3(TNFRSF13B):c.61+10C>T rs148297590 0.00621
NM_020921.4(NIN):c.6068A>G (p.Asn2023Ser) rs61747997 0.00620
NM_033453.4(ITPA):c.278A>G (p.Glu93Gly) rs34982958 0.00620
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974 0.00618
NM_025243.4(SLC19A3):c.309G>A (p.Val103=) rs142837989 0.00618
NM_000726.5(CACNB4):c.1303-3T>C rs143442080 0.00617
NM_017841.4(SDHAF2):c.*12C>T rs113652589 0.00617
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His) rs1046166 0.00617
NM_201384.3(PLEC):c.13110C>T (p.Ala4370=) rs187810163 0.00617
NM_000207.3(INS):c.188-16C>T rs5507 0.00616
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289 0.00616
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) rs16020 0.00616
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=) rs16026 0.00616
NM_001999.4(FBN2):c.629-9A>G rs56025995 0.00616
NM_004304.5(ALK):c.1464C>T (p.Gly488=) rs56165377 0.00615
NM_017838.4(NHP2):c.302G>A (p.Arg101Gln) rs145890370 0.00615
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509 0.00615
NM_000233.4(LHCGR):c.622G>A (p.Val208Ile) rs61996321 0.00614
NM_001197104.2(KMT2A):c.1504G>A (p.Glu502Lys) rs9332772 0.00614
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00613
NM_004369.4(COL6A3):c.4285+9G>A rs75780727 0.00613
NM_018100.4(EFHC1):c.1224C>T (p.Asp408=) rs116134831 0.00613
NM_024642.5(GALNT12):c.579A>G (p.Gly193=) rs146370762 0.00613
NM_018249.6(CDK5RAP2):c.5454T>G (p.Ile1818Met) rs114128928 0.00612
NM_032444.4(SLX4):c.90C>T (p.Ser30=) rs118089506 0.00612
NM_153252.5(BRWD3):c.5100T>C (p.Gly1700=) rs140852252 0.00612
NM_004525.3(LRP2):c.923-6G>A rs144147038 0.00611
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr) rs62625033 0.00610
NM_182914.3(SYNE2):c.2026A>G (p.Lys676Glu) rs78191145 0.00610
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_000516.7(GNAS):c.384G>A (p.Val128=) rs3730166 0.00609
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728 0.00609
NM_007254.4(PNKP):c.*15C>T rs1050332 0.00609
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) rs113671330 0.00608
NM_000540.3(RYR1):c.573C>T (p.Asp191=) rs892054 0.00607
NM_001009999.3(KDM1A):c.136G>A (p.Gly46Ser) rs144822945 0.00607
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val) rs11545035 0.00605
NM_019066.5(MAGEL2):c.1038G>C (p.Arg346Ser) rs115892604 0.00605
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val) rs184420466 0.00604
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_001037.5(SCN1B):c.-9C>A rs66671189 0.00603
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501 0.00602
NM_005373.3(MPL):c.1309-10C>T rs139486615 0.00602
NM_012233.3(RAB3GAP1):c.913A>G (p.Ile305Val) rs116775947 0.00602
NM_017757.3(ZNF407):c.6007G>A (p.Glu2003Lys) rs150419019 0.00602
NM_001367561.1(DOCK7):c.4696G>A (p.Gly1566Ser) rs147103646 0.00601
NM_000051.4(ATM):c.4042T>C (p.Leu1348=) rs56355831 0.00599
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln) rs76756898 0.00599
NM_006662.3(SRCAP):c.4603C>G (p.Pro1535Ala) rs117804715 0.00599
NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val) rs146253630 0.00599
NM_015102.5(NPHP4):c.1442-7C>T rs146078470 0.00599
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724 0.00599
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr) rs114026724 0.00598
NM_001291303.3(FAT4):c.4154T>C (p.Leu1385Ser) rs139883132 0.00597
NM_006063.3(KLHL41):c.863T>G (p.Leu288Arg) rs139415849 0.00597
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) rs148450315 0.00596
NM_000521.4(HEXB):c.1051T>C (p.Leu351=) rs114661695 0.00596
NM_006031.6(PCNT):c.8646G>C (p.Leu2882Phe) rs141771795 0.00596
NM_152263.4(TPM3):c.92A>C (p.Lys31Thr) rs62000429 0.00596
NM_001367721.1(CASK):c.2040-9A>G rs138290714 0.00595
NM_022725.4(FANCF):c.557C>T (p.Ala186Val) rs113910234 0.00595
NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His) rs59915619 0.00594
NM_001080510.5(METTL23):c.496G>A (p.Asp166Asn) rs138247613 0.00593
NM_031407.7(HUWE1):c.10551G>T (p.Leu3517=) rs61730217 0.00593
NM_024747.6(HPS6):c.698T>G (p.Leu233Arg) rs36078476 0.00592
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) rs61729366 0.00592
NM_138982.4(MAPK10):c.339C>T (p.Val113=) rs28760360 0.00592
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys) rs77675624 0.00591
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=) rs115070904 0.00590
NM_001374828.1(ARID1B):c.3106G>A (p.Gly1036Ser) rs34786733 0.00590
NM_001253852.3(AP4B1):c.1793-9C>G rs17031980 0.00589
NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=) rs114126795 0.00589
NM_014625.4(NPHS2):c.891G>A (p.Ala297=) rs5005771 0.00589
NM_019066.5(MAGEL2):c.678T>G (p.Gly226=) rs367737053 0.00589
NM_000760.4(CSF3R):c.2422G>A (p.Glu808Lys) rs146617729 0.00588
NM_198576.4(AGRN):c.3404A>G (p.Gln1135Arg) rs142416636 0.00588
NM_024577.4(SH3TC2):c.645C>T (p.Ser215=) rs80227512 0.00587
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser) rs76537615 0.00586
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759 0.00586
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_001024613.4(FEZF1):c.253A>G (p.Ser85Gly) rs145467198 0.00585
NM_001318510.2(ACSL4):c.1698-10G>A rs193072191 0.00585
NM_004268.5(MED17):c.251-8C>T rs148912294 0.00585
NM_006031.6(PCNT):c.5954C>T (p.Ser1985Phe) rs140398533 0.00585
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
NM_000091.5(COL4A3):c.1398T>C (p.Asp466=) rs145833114 0.00584
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00583
NM_000516.7(GNAS):c.366C>T (p.Pro122=) rs35287986 0.00583
NM_001843.4(CNTN1):c.207C>T (p.Ala69=) rs7297132 0.00583
NM_030773.4(TUBB1):c.1075C>T (p.Arg359Trp) rs140943896 0.00583
NM_198576.4(AGRN):c.67G>C (p.Val23Leu) rs201073369 0.00583
NM_000383.4(AIRE):c.497C>T (p.Pro166Leu) rs11910214 0.00580
NM_020987.5(ANK3):c.1047C>T (p.Cys349=) rs117138204 0.00580
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834 0.00578
NM_001330078.2(NRXN1):c.3249C>T (p.Pro1083=) rs116236999 0.00578
NM_004268.5(MED17):c.1500G>A (p.Glu500=) rs76149470 0.00578
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028 0.00578
NM_014832.5(TBC1D4):c.3356T>C (p.Val1119Ala) rs58232698 0.00578
NM_002435.3(MPI):c.982C>T (p.Arg328Trp) rs117089191 0.00577
NM_004304.5(ALK):c.1719C>T (p.Thr573=) rs74830770 0.00577
NM_017780.4(CHD7):c.5051-4C>T rs71640288 0.00577
NM_018943.3(TUBA8):c.250C>T (p.Arg84Cys) rs115847686 0.00577
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444 0.00577
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_006757.4(TNNT3):c.414G>A (p.Glu138=) rs2292470 0.00576
NM_001130438.3(SPTAN1):c.3520-14C>G rs142682344 0.00575
NM_005876.5(SPEG):c.7810C>T (p.Leu2604Phe) rs77314619 0.00575
NM_014625.4(NPHS2):c.182C>T (p.Ala61Val) rs201050491 0.00575
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser) rs111738042 0.00575
NM_173689.7(CRB2):c.3325C>G (p.His1109Asp) rs185968694 0.00575
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832 0.00574
NM_017755.6(NSUN2):c.2143G>A (p.Val715Ile) rs112951498 0.00574
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534 0.00573
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815 0.00573
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_006031.6(PCNT):c.8752-5A>C rs149444205 0.00573
NM_020699.4(GATAD2B):c.676C>G (p.Pro226Ala) rs115193744 0.00573
NM_004993.6(ATXN3):c.916G>C (p.Gly306Arg) rs12895357 0.00572
NM_006015.6(ARID1A):c.358C>T (p.Pro120Ser) rs571264557 0.00572
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu) rs17216663 0.00569
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg) rs34132016 0.00569
NM_000051.4(ATM):c.186-7C>T rs55674039 0.00568
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_001283009.2(RTEL1):c.1727G>A (p.Arg576His) rs115423936 0.00567
NM_002067.5(GNA11):c.321+9G>A rs143987260 0.00567
NM_182914.3(SYNE2):c.14430A>G (p.Thr4810=) rs34248042 0.00566
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_001143992.2(WRAP53):c.936C>T (p.Cys312=) rs73248508 0.00565
NM_182914.3(SYNE2):c.16522T>A (p.Ser5508Thr) rs35190322 0.00565
NM_001166108.2(PALLD):c.3297T>C (p.Tyr1099=) rs114593924 0.00564
NM_004260.4(RECQL4):c.309G>A (p.Pro103=) rs4251688 0.00564
NM_004519.4(KCNQ3):c.948C>T (p.Thr316=) rs142144538 0.00564
NM_020987.5(ANK3):c.2544T>C (p.Asp848=) rs60764245 0.00564
NM_173630.4(RTTN):c.2466A>G (p.Arg822=) rs115470168 0.00564
NM_001194998.2(CEP152):c.3278G>A (p.Cys1093Tyr) rs74012142 0.00563
NM_173689.7(CRB2):c.278G>A (p.Arg93His) rs138381817 0.00563
NM_000939.4(POMC):c.18C>T (p.Cys6=) rs8192605 0.00562
NM_001377304.1(GFI1B):c.238+7C>T rs11793702 0.00562
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_001199397.3(NEK1):c.3624T>C (p.Asp1208=) rs55740606 0.00560
NM_001909.5(CTSD):c.1072-7G>A rs149019571 0.00560
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met) rs34355135 0.00560
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala) rs79182085 0.00560
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408 0.00559
NM_005045.4(RELN):c.621C>T (p.Asp207=) rs114627891 0.00558
NM_031407.7(HUWE1):c.12573C>G (p.Pro4191=) rs140734968 0.00558
NM_000135.4(FANCA):c.1359+10C>T rs34159559 0.00557
NM_004260.4(RECQL4):c.1395G>A (p.Thr465=) rs34948955 0.00557
NM_004525.3(LRP2):c.8892G>A (p.Arg2964=) rs149148763 0.00557
NM_173689.7(CRB2):c.205C>T (p.Arg69Trp) rs36035964 0.00556
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163 0.00555
NM_000540.3(RYR1):c.8068-14C>T rs57376136 0.00554
NM_001109809.5(ZFP57):c.1086T>C (p.Thr362=) rs61730326 0.00553
NM_001109809.5(ZFP57):c.783C>T (p.Cys261=) rs61730328 0.00553
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843 0.00552
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476 0.00551
NM_001164508.2(NEB):c.5905T>C (p.Tyr1969His) rs34532796 0.00550
NM_004369.4(COL6A3):c.6105G>A (p.Lys2035=) rs35556524 0.00550
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866 0.00549
NM_004586.3(RPS6KA3):c.1989C>T (p.Asp663=) rs139718656 0.00549
NM_017882.3(CLN6):c.298-6C>T rs117038427 0.00549
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090 0.00548
NM_005591.4(MRE11):c.2092A>G (p.Met698Val) rs1805362 0.00548
NM_014141.6(CNTNAP2):c.1247C>T (p.Ala416Val) rs34456867 0.00548
NM_018013.4(SOBP):c.1615A>G (p.Ile539Val) rs146747167 0.00548
NM_173630.4(RTTN):c.3581A>G (p.Glu1194Gly) rs34533087 0.00548
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr) rs56404770 0.00546
NM_003072.5(SMARCA4):c.1419+7T>C rs112977340 0.00546
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=) rs72650003 0.00545
NM_020207.7(ERCC6L2):c.3076G>C (p.Val1026Leu) rs149922601 0.00545
NM_024740.2(ALG9):c.1383C>T (p.Thr461=) rs45516107 0.00545
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_001353788.2(APBA2):c.1815G>A (p.Pro605=) rs140055297 0.00544
NM_002465.4(MYBPC1):c.594T>C (p.Ser198=) rs79442861 0.00543
NM_006059.4(LAMC3):c.786G>A (p.Val262=) rs2275133 0.00543
NM_015330.6(SPECC1L):c.1460G>A (p.Arg487His) rs55723436 0.00543
NM_015631.6(TCTN3):c.630T>C (p.Ala210=) rs41299157 0.00543
NM_001159699.2(FHL1):c.204+5C>T rs182106777 0.00542
NM_017654.4(SAMD9):c.1347T>C (p.Asn449=) rs150107667 0.00542
NM_022437.3(ABCG8):c.1963A>G (p.Met655Val) rs9282573 0.00542
NM_032119.4(ADGRV1):c.4260A>G (p.Glu1420=) rs61740119 0.00542
NM_001048174.2(MUTYH):c.421-4A>G rs201678305 0.00541
NM_173630.4(RTTN):c.183G>A (p.Lys61=) rs34922729 0.00541
NM_178012.5(TUBB2B):c.330C>T (p.Ala110=) rs141251993 0.00541
NM_001143992.2(WRAP53):c.1482A>G (p.Glu494=) rs140360074 0.00540
NM_002894.3(RBBP8):c.1071A>C (p.Lys357Asn) rs34678569 0.00540
NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser) rs73113975 0.00540
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00539
NM_001143992.2(WRAP53):c.1223G>A (p.Gly408Asp) rs116535684 0.00539
NM_001378778.1(MPDZ):c.4558-8C>A rs77381767 0.00539
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_018993.4(RIN2):c.965G>A (p.Ser322Asn) rs199693970 0.00538
NM_005876.5(SPEG):c.4730-4C>T rs79386296 0.00537
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys) rs181067717 0.00536
NM_000439.5(PCSK1):c.397-10T>C rs142423997 0.00535
NM_001267550.2(TTN):c.42024+6T>C rs140002940 0.00535
NM_003922.4(HERC1):c.2694C>T (p.His898=) rs78998206 0.00533
NM_017654.4(SAMD9):c.1398A>C (p.Pro466=) rs138066899 0.00533
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys) rs149814240 0.00533
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394 0.00532
NM_001194998.2(CEP152):c.1909-8G>C rs116089174 0.00531
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=) rs115623439 0.00531
NM_007137.5(ZNF81):c.470A>G (p.Asn157Ser) rs41312157 0.00531
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891 0.00530
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_000043.6(FAS):c.369G>A (p.Gln123=) rs28362318 0.00529
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala) rs11554412 0.00529
NM_145064.3(STAC3):c.1023G>C (p.Ala341=) rs61747067 0.00529
NM_000458.3(HNF1B):c.-178G>A rs148442901 0.00528
NM_001143992.2(WRAP53):c.1641G>T (p.Leu547=) rs146994329 0.00528
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=) rs75248449 0.00528
NM_173630.4(RTTN):c.6038G>T (p.Cys2013Phe) rs145976466 0.00528
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464 0.00527
NM_001008537.3(NEXMIF):c.3798C>T (p.Gly1266=) rs149185175 0.00527
NM_000173.7(GP1BA):c.106A>G (p.Arg36Gly) rs111292798 0.00526
NM_014425.5(INVS):c.740A>G (p.Asn247Ser) rs41312220 0.00526
NM_031483.7(ITCH):c.1146A>G (p.Gln382=) rs141828786 0.00526
NM_014915.2(ANKRD26):c.-184G>T rs527666933 0.00525
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291 0.00524
NM_016373.4(WWOX):c.358C>T (p.Arg120Trp) rs141361080 0.00523
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_015634.4(KIFBP):c.1761T>C (p.Pro587=) rs41279644 0.00520
NM_001291303.3(FAT4):c.12986A>G (p.Asp4329Gly) rs114234553 0.00519
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_001102401.4(TTI2):c.118C>T (p.Pro40Ser) rs78781527 0.00517
NM_001715.3(BLK):c.335T>C (p.Phe112Ser) rs115068920 0.00517
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=) rs144538918 0.00517
NM_198576.4(AGRN):c.1123G>T (p.Ala375Ser) rs138031468 0.00517
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His) rs56044609 0.00516
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_005327.7(HADH):c.275T>G (p.Phe92Cys) rs61735992 0.00516
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp) rs144471022 0.00516
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly) rs28730855 0.00515
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu) rs115913736 0.00515
NM_001039591.3(USP9X):c.3028-7A>G rs115310559 0.00514
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_001160372.4(TRAPPC9):c.3163G>A (p.Val1055Ile) rs35578974 0.00512
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_024598.4(USB1):c.344G>A (p.Arg115Lys) rs35025252 0.00512
NM_181507.2(HPS5):c.3045G>A (p.Met1015Ile) rs61755718 0.00512
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710 0.00511
NM_022095.4(ZNF335):c.2821G>A (p.Ala941Thr) rs116247914 0.00511
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123 0.00511
NM_007294.4(BRCA1):c.-192T>C rs113323025 0.00510
NM_007327.4(GRIN1):c.1584G>A (p.Glu528=) rs116006955 0.00510
NM_144508.5(KNL1):c.2014A>C (p.Ile672Leu) rs73394756 0.00510
NM_000525.4(KCNJ11):c.108G>A (p.Val36=) rs112070496 0.00509
NM_001374828.1(ARID1B):c.612A>G (p.Gln204=) rs78253128 0.00509
NM_002206.3(ITGA7):c.3384C>T (p.Pro1128=) rs148170949 0.00509
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=) rs35450031 0.00509
NM_003664.5(AP3B1):c.2585C>T (p.Thr862Ile) rs146624866 0.00508
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser) rs74315394 0.00508
NM_000091.5(COL4A3):c.4380T>C (p.Cys1460=) rs114430490 0.00507
NM_005045.4(RELN):c.6084C>T (p.Gly2028=) rs114019779 0.00507
NM_198252.3(GSN):c.382G>A (p.Val128Met) rs41305623 0.00507
NM_001940.4(ATN1):c.408C>T (p.Tyr136=) rs147993402 0.00506
NM_172107.4(KCNQ2):c.2235G>A (p.Pro745=) rs139587368 0.00506
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_005263.5(GFI1):c.1198C>T (p.Leu400Phe) rs143708376 0.00505
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525 0.00505
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=) rs79970751 0.00503
NM_004153.4(ORC1):c.2314G>A (p.Val772Ile) rs61753389 0.00503
NM_004369.4(COL6A3):c.1471G>C (p.Asp491His) rs112010940 0.00503
NM_004369.4(COL6A3):c.1475C>G (p.Thr492Ser) rs113897824 0.00503
NM_007347.5(AP4E1):c.2755A>G (p.Met919Val) rs115188375 0.00503
NM_020987.5(ANK3):c.13106G>A (p.Arg4369Gln) rs141939315 0.00503
NM_201384.3(PLEC):c.9925C>T (p.Arg3309Cys) rs77303974 0.00503
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465 0.00502
NM_004268.5(MED17):c.690C>T (p.Leu230=) rs116727804 0.00502
NM_001160372.4(TRAPPC9):c.3249C>T (p.Phe1083=) rs112551069 0.00501
NM_001987.5(ETV6):c.602T>C (p.Leu201Pro) rs145477191 0.00501
NM_002519.3(NPAT):c.1506T>G (p.Pro502=) rs61913698 0.00501
NM_005445.4(SMC3):c.2007T>C (p.Tyr669=) rs147404470 0.00501
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816 0.00500
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) rs41316003 0.00500
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val) rs72782753 0.00500
NM_001366110.1(PAX4):c.646-7C>T rs11977988 0.00498
NM_006231.4(POLE):c.1359+9G>A rs75135381 0.00498
NM_139343.3(BIN1):c.1132-7T>C rs115938552 0.00498
NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr) rs79087668 0.00498
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=) rs113282901 0.00497
NM_173630.4(RTTN):c.6636T>C (p.Tyr2212=) rs35558429 0.00497
NM_001276270.2(MBD4):c.1684G>C (p.Asp562His) rs2307293 0.00496
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327 0.00496
NM_173630.4(RTTN):c.227C>T (p.Pro76Leu) rs114765225 0.00496
NM_000251.3(MSH2):c.984C>T (p.Ala328=) rs4987189 0.00495
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile) rs61752970 0.00495
NM_001360.3(DHCR7):c.99-10G>A rs189549129 0.00495
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666 0.00495
NM_138501.6(TECR):c.813C>T (p.Ser271=) rs141619383 0.00495
NM_001083961.2(WDR62):c.866A>G (p.Lys289Arg) rs12327568 0.00494
NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu) rs148425392 0.00493
NM_198576.4(AGRN):c.5201G>A (p.Arg1734His) rs145444272 0.00493
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu) rs17216670 0.00492
NM_015192.4(PLCB1):c.1167+7T>C rs45466294 0.00492
NM_173630.4(RTTN):c.4992G>C (p.Leu1664=) rs34041767 0.00492
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629 0.00491
NM_001378778.1(MPDZ):c.3582T>G (p.Ser1194Arg) rs188840960 0.00490
NM_005886.3(KATNB1):c.856-5T>G rs200584307 0.00490
NM_000377.3(WAS):c.995T>C (p.Val332Ala) rs2737799 0.00489
NM_024757.5(EHMT1):c.316C>G (p.Gln106Glu) rs144603232 0.00489
NM_198904.4(GABRG2):c.717A>G (p.Gln239=) rs78261481 0.00489
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser) rs116796602 0.00488
NM_024876.4(COQ8B):c.381G>A (p.Gly127=) rs55895642 0.00488
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_174936.4(PCSK9):c.1431C>T (p.Cys477=) rs28362268 0.00488
NM_000080.4(CHRNE):c.*6A>G rs55806270 0.00487
NM_002291.3(LAMB1):c.3012G>A (p.Thr1004=) rs113725211 0.00487
NM_017849.4(TMEM127):c.409+7C>T rs189327749 0.00487
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446 0.00486
NM_002691.4(POLD1):c.1275C>T (p.Ala425=) rs3219392 0.00486
NM_004006.3(DMD):c.10789C>T (p.Leu3597=) rs1800281 0.00486
NM_004278.4(PIGL):c.424C>A (p.Leu142Met) rs115958467 0.00486
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr) rs115324397 0.00485
NM_000540.3(RYR1):c.873G>A (p.Ala291=) rs2229140 0.00484
NM_001206999.2(CIT):c.3006C>T (p.Asn1002=) rs79892909 0.00484
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His) rs41266761 0.00484
NM_032119.4(ADGRV1):c.3289G>A (p.Gly1097Ser) rs148097083 0.00484
NM_004369.4(COL6A3):c.8010G>A (p.Ala2670=) rs79313758 0.00483
NM_004369.4(COL6A3):c.7928C>T (p.Ala2643Val) rs111595697 0.00482
NM_005373.3(MPL):c.210G>A (p.Pro70=) rs6086 0.00482
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399 0.00482
NM_001382391.1(CSPP1):c.-121A>G rs181470846 0.00481
NM_002156.5(HSPD1):c.27C>G (p.Arg9=) rs11551349 0.00481
NM_003647.3(DGKE):c.35C>T (p.Pro12Leu) rs146866423 0.00481
NM_001048166.1(STIL):c.3378A>G (p.Arg1126=) rs142315727 0.00478
NM_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=) rs143312971 0.00478
NM_152703.5(SAMD9L):c.1908C>T (p.Pro636=) rs142642466 0.00478
NR_001566.1(TERC):n.228G>A rs141686314 0.00478
NM_000064.4(C3):c.3970-8C>T rs11569540 0.00476
NM_016222.4(DDX41):c.*74C>T rs78923296 0.00476
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391 0.00476
NM_017777.4(MKS1):c.1436G>A (p.Arg479His) rs111315726 0.00476
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=) rs61742801 0.00476
NM_001374828.1(ARID1B):c.985G>A (p.Gly329Ser) rs375160616 0.00475
NM_003922.4(HERC1):c.6225+4C>T rs141414233 0.00475
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143 0.00475
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394 0.00474
NM_032444.4(SLX4):c.718A>G (p.Asn240Asp) rs114744903 0.00474
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995 0.00472
NM_004153.4(ORC1):c.57G>C (p.Arg19Ser) rs3087473 0.00472
NM_004826.4(ECEL1):c.51C>A (p.Val17=) rs191331240 0.00472
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala) rs146292575 0.00472
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met) rs587784372 0.00471
NM_001012339.3(DNAJC21):c.1024G>A (p.Val342Met) rs144600070 0.00471
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00471
NM_133642.5(LARGE1):c.892+50C>T rs62225294 0.00471
NM_203447.4(DOCK8):c.3573C>T (p.Ser1191=) rs13285348 0.00471
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val) rs141441058 0.00470
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) rs62346982 0.00470
NM_015662.3(IFT172):c.1685C>G (p.Thr562Ser) rs61743977 0.00470
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938 0.00470
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile) rs115800498 0.00470
NM_024649.5(BBS1):c.1020C>G (p.Ser340=) rs35209408 0.00470
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile) rs2230017 0.00469
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923 0.00468
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=) rs201636741 0.00468
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=) rs72646857 0.00468
NM_006015.6(ARID1A):c.6586C>T (p.Leu2196=) rs149633292 0.00468
NM_024120.5(NDUFAF5):c.183G>C (p.Arg61=) rs139219896 0.00468
NM_000540.3(RYR1):c.9882C>T (p.Ser3294=) rs142610625 0.00467
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049 0.00467
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013 0.00466
NM_001199198.3(TBC1D23):c.92G>C (p.Cys31Ser) rs62636640 0.00466
NM_001199198.3(TBC1D23):c.423A>G (p.Pro141=) rs62636641 0.00465
NM_005045.4(RELN):c.5775A>G (p.Arg1925=) rs2711866 0.00464
NM_001040616.3(LINS1):c.1285C>T (p.Leu429=) rs141962847 0.00463
NM_006013.5(RPL10):c.23+9T>A rs2070820 0.00463
NM_139027.6(ADAMTS13):c.2494G>A (p.Val832Met) rs34104386 0.00463
NM_001364905.1(LRBA):c.3350G>T (p.Gly1117Val) rs35977354 0.00462
NM_001364905.1(LRBA):c.3826-5A>G rs114629781 0.00462
NM_002472.3(MYH8):c.5350C>G (p.Arg1784Gly) rs141215006 0.00462
NM_017654.4(SAMD9):c.4666G>A (p.Ala1556Thr) rs34896991 0.00462
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=) rs116747861 0.00461
NM_001083961.2(WDR62):c.2334-6C>A rs138928852 0.00461
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val) rs72650029 0.00461
NM_002472.3(MYH8):c.3757C>T (p.Arg1253Cys) rs34953692 0.00461
NM_003000.3(SDHB):c.24C>T (p.Ser8=) rs148738139 0.00461
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val) rs140374206 0.00461
NM_000540.3(RYR1):c.12588C>T (p.Ile4196=) rs61739895 0.00460
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204 0.00460
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser) rs75639119 0.00460
NM_001194998.2(CEP152):c.1866G>T (p.Leu622=) rs61737684 0.00460
NM_002693.3(POLG):c.3198G>A (p.Thr1066=) rs61752780 0.00460
NM_001080449.3(DNA2):c.2713C>A (p.Gln905Lys) rs181679245 0.00459
NM_006260.5(DNAJC3):c.1060G>C (p.Glu354Gln) rs59892430 0.00459
NM_016343.4(CENPF):c.6550G>A (p.Val2184Ile) rs62623663 0.00459
NM_016343.4(CENPF):c.7544A>C (p.Gln2515Pro) rs62636593 0.00459
NM_020987.5(ANK3):c.7225T>C (p.Ser2409Pro) rs148904927 0.00459
NM_001291415.2(KDM6A):c.3870T>C (p.Ala1290=) rs142238688 0.00458
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) rs56086732 0.00458
NM_139027.6(ADAMTS13):c.500C>T (p.Thr167Met) rs141932927 0.00458
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln) rs28363283 0.00457
NM_004456.5(EZH2):c.2028T>C (p.Asn676=) rs115842196 0.00457
NM_015922.3(NSDHL):c.25A>G (p.Met9Val) rs35529894 0.00457
NM_003001.5(SDHC):c.354T>C (p.Phe118=) rs61733156 0.00454
NM_005188.4(CBL):c.2710G>A (p.Val904Ile) rs17122769 0.00454
NM_130839.5(UBE3A):c.2124+9T>C rs79328837 0.00454
NM_022455.5(NSD1):c.2169C>T (p.Thr723=) rs11948062 0.00453
NM_001110556.2(FLNA):c.663C>T (p.Pro221=) rs2073470 0.00452
NM_002582.4(PARN):c.840+6del rs531994703 0.00452
NM_006306.4(SMC1A):c.1698G>A (p.Glu566=) rs7052858 0.00452
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00451
NM_002519.3(NPAT):c.861C>T (p.Asn287=) rs34021883 0.00451
NM_004826.4(ECEL1):c.1656G>A (p.Lys552=) rs1190429 0.00451
NM_006279.5(ST3GAL3):c.636C>T (p.Gly212=) rs12140044 0.00451
NM_052989.3(IFT122):c.1273C>T (p.Arg425Trp) rs61744639 0.00451
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) rs142348718 0.00450
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304 0.00450
NM_001184.4(ATR):c.1328G>C (p.Arg443Thr) rs28367453 0.00450
NM_001194998.2(CEP152):c.2000A>G (p.Lys667Arg) rs200879436 0.00450
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) rs3027888 0.00450
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684 0.00449
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437 0.00449
NM_004260.4(RECQL4):c.195C>G (p.Leu65=) rs369163654 0.00449
NM_173630.4(RTTN):c.5991T>C (p.Pro1997=) rs34749812 0.00449
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=) rs141338915 0.00448
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082 0.00448
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460 0.00447
NM_003619.4(PRSS12):c.51A>G (p.Glu17=) rs144853134 0.00447
NM_001080414.4(CCDC88C):c.912C>T (p.Asp304=) rs61736349 0.00446
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro) rs55720916 0.00446
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080 0.00446
NM_001253852.3(AP4B1):c.1189A>G (p.Ile397Val) rs145182838 0.00445
NM_022455.5(NSD1):c.1690G>T (p.Ala564Ser) rs116520623 0.00445
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=) rs35647984 0.00445
NM_004523.4(KIF11):c.2771-6T>A rs75876570 0.00444
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser) rs73481453 0.00444
NM_007363.5(NONO):c.1179G>T (p.Met393Ile) rs138148374 0.00444
NM_012156.2(EPB41L1):c.1197C>T (p.Thr399=) rs115743976 0.00444
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=) rs142351862 0.00444
NM_017534.6(MYH2):c.5780G>A (p.Arg1927Gln) rs34161789 0.00444
NM_031448.6(C19orf12):c.392A>C (p.Lys131Thr) rs79915936 0.00444
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00443
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_000081.4(LYST):c.10800+4G>T rs41308172 0.00441
NM_002768.5(CHMP1A):c.210C>T (p.Asp70=) rs114931496 0.00440
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser) rs77731085 0.00439
NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser) rs112906840 0.00438
NM_152743.4(BRAT1):c.675C>T (p.Phe225=) rs139443843 0.00438
NM_201525.4(ADGRG1):c.1933+10A>G rs137936275 0.00438
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys) rs62224222 0.00437
NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser) rs138628273 0.00437
NM_020699.4(GATAD2B):c.1469C>T (p.Ala490Val) rs145131801 0.00437
NM_022437.3(ABCG8):c.1506G>A (p.Pro502=) rs145756111 0.00437
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_000781.3(CYP11A1):c.535G>A (p.Val179Ile) rs58174009 0.00436
NM_002473.6(MYH9):c.1083C>T (p.Asp361=) rs56001030 0.00436
NM_006306.4(SMC1A):c.*14C>T rs112727682 0.00436
NM_173560.4(RFX6):c.2176C>G (p.Arg726Gly) rs144648002 0.00436
NM_000096.4(CP):c.2522C>G (p.Thr841Arg) rs56033670 0.00435
NM_001308093.3(GATA4):c.1224A>C (p.Pro408=) rs7830178 0.00435
NM_005629.4(SLC6A8):c.1768-3C>T rs150207268 0.00435
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys) rs35690634 0.00435
NM_003072.5(SMARCA4):c.4494C>T (p.Tyr1498=) rs139505007 0.00434
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_020921.4(NIN):c.4837C>T (p.Arg1613Cys) rs61755995 0.00434
NM_001164508.2(NEB):c.2640C>T (p.Arg880=) rs114959904 0.00433
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689 0.00433
NM_004656.4(BAP1):c.2057-4G>T rs149499021 0.00433
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_004168.4(SDHA):c.969C>T (p.Gly323=) rs142849100 0.00430
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys) rs142993240 0.00430
NM_007294.4(BRCA1):c.*750A>G rs138782023 0.00430
NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala) rs34642406 0.00430
NM_000179.3(MSH6):c.1345C>T (p.Leu449=) rs3136333 0.00429
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly) rs58093963 0.00429
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser) rs75145370 0.00429
NM_021922.3(FANCE):c.1572G>A (p.Arg524=) rs115195341 0.00429
NM_032119.4(ADGRV1):c.5525-7C>T rs137853919 0.00429
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=) rs138259457 0.00428
NM_002465.4(MYBPC1):c.608+9A>G rs183524782 0.00428
NM_017654.4(SAMD9):c.257C>T (p.Ser86Phe) rs147157740 0.00428
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886 0.00427
NM_004260.4(RECQL4):c.1090G>A (p.Val364Met) rs144637135 0.00427
NM_018136.5(ASPM):c.5741A>G (p.Gln1914Arg) rs113325473 0.00427
NM_201384.3(PLEC):c.4366G>A (p.Val1456Met) rs186848953 0.00427
NM_000352.4(ABCC8):c.-72G>A rs541244107 0.00426
NM_001077446.4(TSEN34):c.39G>A (p.Val13=) rs184898622 0.00426
NM_001366110.1(PAX4):c.*190C>T rs2233585 0.00426
NM_001371928.1(AHDC1):c.212C>T (p.Thr71Ile) rs199719452 0.00426
NM_002472.3(MYH8):c.805+9C>T rs75468422 0.00426
NM_182895.5(SCARF2):c.1653C>T (p.Asp551=) rs76472118 0.00426
NM_198576.4(AGRN):c.4352C>T (p.Pro1451Leu) rs144620006 0.00426
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu) rs74315344 0.00425
NM_175914.5(HNF4A):c.669A>G (p.Leu223=) rs139591750 0.00425
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr) rs56815840 0.00424
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg) rs141088838 0.00423
NM_198525.3(KIF7):c.49C>T (p.Arg17Trp) rs141865394 0.00423
NM_000540.3(RYR1):c.5493G>T (p.Gly1831=) rs140004449 0.00422
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524 0.00422
NM_153252.5(BRWD3):c.33G>A (p.Glu11=) rs139071237 0.00422
NM_001375405.1(CEP120):c.1112A>G (p.Lys371Arg) rs114281792 0.00421
NM_001377304.1(GFI1B):c.576C>T (p.Phe192=) rs150813342 0.00421
NM_015631.6(TCTN3):c.224C>T (p.Ala75Val) rs41291570 0.00421
NM_201384.3(PLEC):c.9423C>T (p.Gly3141=) rs61529674 0.00421
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_000273.3(GPR143):c.570C>T (p.His190=) rs61733440 0.00420
NM_015102.5(NPHP4):c.2293G>A (p.Val765Ile) rs149244006 0.00420
NM_022095.4(ZNF335):c.3507C>T (p.His1169=) rs141812371 0.00420
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=) rs78795178 0.00417
NM_006265.3(RAD21):c.938-11T>C rs200333487 0.00417
NM_006949.4(STXBP2):c.1375C>T (p.Arg459Trp) rs142105943 0.00417
NM_014141.6(CNTNAP2):c.3675G>A (p.Ser1225=) rs142331907 0.00417
NM_022095.4(ZNF335):c.826G>A (p.Ala276Thr) rs117802609 0.00417
NM_175914.4(HNF4A):c.-278G>A rs112444447 0.00417
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg) rs143784823 0.00417
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala) rs147756847 0.00416
NM_000208.4(INSR):c.870C>T (p.His290=) rs74483718 0.00416
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023 0.00416
NM_001715.3(BLK):c.753A>G (p.Gln251=) rs76563369 0.00416
NM_002291.3(LAMB1):c.4221C>T (p.Ser1407=) rs35082294 0.00416
NM_020987.5(ANK3):c.8508T>C (p.His2836=) rs11815168 0.00416
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys) rs150547487 0.00416
NM_147127.5(EVC2):c.307T>C (p.Leu103=) rs140877783 0.00416
NM_000545.8(HNF1A):c.326+6_326+10dup rs56158114 0.00415
NM_012233.3(RAB3GAP1):c.1006C>T (p.Arg336Cys) rs150478342 0.00415
NM_000141.5(FGFR2):c.159G>A (p.Ala53=) rs1047102 0.00414
NM_001083961.2(WDR62):c.1225A>G (p.Asn409Asp) rs146180912 0.00414
NM_001184.4(ATR):c.4820G>A (p.Ser1607Asn) rs55724025 0.00414
NM_016032.4(ZDHHC9):c.975C>T (p.Ser325=) rs139619000 0.00414
NM_000079.4(CHRNA1):c.643G>A (p.Asp215Asn) rs148304857 0.00413
NM_001813.3(CENPE):c.1912A>G (p.Lys638Glu) rs114613121 0.00412
NM_018263.6(ASXL2):c.1489G>A (p.Ala497Thr) rs192716734 0.00412
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) rs61753725 0.00412
NM_173689.7(CRB2):c.1428T>G (p.Thr476=) rs142345530 0.00412
NM_000383.4(AIRE):c.548C>A (p.Thr183Asn) rs34219046 0.00411
NM_022081.6(HPS4):c.710C>T (p.Ala237Val) rs77597168 0.00411
NM_178012.5(TUBB2B):c.609C>T (p.Asp203=) rs1054332 0.00411
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895 0.00411
NM_001099274.3(TINF2):c.1092G>A (p.Leu364=) rs184422577 0.00410
NM_001813.3(CENPE):c.4774A>C (p.Lys1592Gln) rs61756292 0.00410
NM_003901.4(SGPL1):c.1693C>T (p.Pro565Ser) rs77130902 0.00410
NM_012309.5(SHANK2):c.2453G>A (p.Arg818His) rs117843717 0.00410
NM_000540.3(RYR1):c.11941C>T (p.His3981Tyr) rs148772854 0.00409
NM_001379286.1(ZNF423):c.3291C>T (p.Tyr1097=) rs150027129 0.00408
NM_032415.7(CARD11):c.3019+6C>T rs199705831 0.00408
NM_001291303.3(FAT4):c.10853C>T (p.Thr3618Met) rs111423173 0.00407
NM_007137.5(ZNF81):c.1495A>G (p.Ile499Val) rs182239885 0.00407
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=) rs112775648 0.00406
NM_001378778.1(MPDZ):c.2580A>G (p.Leu860=) rs34704118 0.00406
NM_007254.4(PNKP):c.1032G>A (p.Arg344=) rs185452809 0.00406
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383 0.00405
NM_024408.4(NOTCH2):c.435G>A (p.Thr145=) rs1615676 0.00405
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_144508.5(KNL1):c.6034A>G (p.Ile2012Val) rs74970544 0.00405
NM_000383.4(AIRE):c.595G>A (p.Val199Ile) rs74162061 0.00404
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894 0.00404
NM_004840.3(ARHGEF6):c.362G>A (p.Arg121His) rs35106300 0.00404
NM_153240.5(NPHP3):c.2089-9C>T rs141397228 0.00404
NM_201525.4(ADGRG1):c.844G>C (p.Gly282Arg) rs146704802 0.00404
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met) rs138108344 0.00403
NM_005236.3(ERCC4):c.1446A>G (p.Glu482=) rs114077770 0.00403
NM_005634.3(SOX3):c.157G>C (p.Val53Leu) rs200361128 0.00403
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_024596.5(MCPH1):c.1845A>C (p.Thr615=) rs186547090 0.00403
NM_139343.3(BIN1):c.888C>T (p.Ser296=) rs114833236 0.00403
NM_005357.4(LIPE):c.2223C>T (p.Tyr741=) rs141921519 0.00402
NM_005445.4(SMC3):c.1680T>C (p.Tyr560=) rs75817442 0.00402
NM_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246 0.00400
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243 0.00400
NM_024876.4(COQ8B):c.1347C>T (p.Phe449=) rs142420160 0.00400
NM_030665.4(RAI1):c.1142C>T (p.Ala381Val) rs113208290 0.00400
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00399
NM_004595.5(SMS):c.1026A>C (p.Ser342=) rs61732077 0.00399
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249 0.00399
NM_020822.3(KCNT1):c.116C>T (p.Pro39Leu) rs201051863 0.00399
NM_000251.3(MSH2):c.1662-9G>A rs17218356 0.00398
NM_001040616.3(LINS1):c.718C>T (p.Arg240Trp) rs145145735 0.00398
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_001267550.2(TTN):c.15850G>A (p.Val5284Met) rs66839174 0.00398
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867 0.00398
NM_020937.4(FANCM):c.3040G>T (p.Gly1014Cys) rs77532752 0.00398
NM_001330260.2(SCN8A):c.928+9C>T rs148027656 0.00397
NM_001378183.1(PIEZO2):c.5819C>A (p.Ala1940Asp) rs116667912 0.00397
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_001069.3(TUBB2A):c.780C>T (p.Phe260=) rs145184832 0.00396
NM_001843.4(CNTN1):c.2493T>C (p.His831=) rs61754102 0.00396
NM_005523.6(HOXA11):c.840C>T (p.Leu280=) rs115808703 0.00396
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513 0.00396
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys) rs139367209 0.00396
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_000275.3(OCA2):c.1679G>A (p.Arg560His) rs35110389 0.00395
NM_001177316.2(SLC34A3):c.273C>T (p.Asp91=) rs145677050 0.00395
NM_006420.3(ARFGEF2):c.1512G>A (p.Thr504=) rs116550473 0.00395
NM_203447.4(DOCK8):c.1017G>A (p.Pro339=) rs35746964 0.00395
NM_032322.4(RNF135):c.299A>G (p.His100Arg) rs368080023 0.00394
NM_001382347.1(MYO5A):c.2814G>A (p.Glu938=) rs190656197 0.00393
NM_018136.5(ASPM):c.7554A>G (p.Arg2518=) rs140248383 0.00393
NM_020987.5(ANK3):c.3984G>A (p.Leu1328=) rs149052618 0.00393
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733 0.00392
NM_001102401.4(TTI2):c.1063C>T (p.Arg355Cys) rs138108276 0.00392
NM_003619.4(PRSS12):c.28C>G (p.Leu10Val) rs143520192 0.00392
NM_015665.6(AAAS):c.679T>C (p.Leu227=) rs80027466 0.00392
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His) rs114057640 0.00392
NM_020549.5(CHAT):c.745C>G (p.Leu249Val) rs115510708 0.00392
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072 0.00392
NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=) rs147336902 0.00391
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys) rs45608240 0.00391
NM_001904.4(CTNNB1):c.2320C>T (p.Leu774=) rs4135386 0.00390
NM_004260.4(RECQL4):c.3133G>A (p.Ala1045Thr) rs35348691 0.00390
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_012414.4(RAB3GAP2):c.1779+7G>A rs111345353 0.00390
NM_002335.4(LRP5):c.4000+9C>T rs148685646 0.00389
NM_031885.5(BBS2):c.1110T>C (p.Ala370=) rs148990271 0.00389
NM_032322.4(RNF135):c.292C>G (p.Pro98Ala) rs376823094 0.00389
NM_173630.4(RTTN):c.4889G>C (p.Arg1630Thr) rs182595458 0.00389
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129 0.00388
NM_004369.4(COL6A3):c.8572G>A (p.Val2858Ile) rs111859552 0.00388
NM_006031.6(PCNT):c.9623+8C>T rs75758339 0.00388
NM_203290.4(POLR1C):c.-4G>A rs2231756 0.00388
NM_001042492.3(NF1):c.3198-4T>C rs587782218 0.00387
NM_014444.5(TUBGCP4):c.1065+7G>A rs117773969 0.00386
NM_020831.6(MRTFA):c.2691C>T (p.Leu897=) rs41276311 0.00386
NM_002334.4(LRP4):c.3817C>A (p.Arg1273=) rs61746928 0.00385
NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile) rs36095561 0.00385
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_001374828.1(ARID1B):c.3235+6C>T rs148976215 0.00384
NM_003072.5(SMARCA4):c.2001+8T>G rs112549813 0.00384
NM_024824.5(ZC3H14):c.1304C>T (p.Ser435Phe) rs45518831 0.00384
NM_000052.7(ATP7A):c.4226+11T>C rs200009243 0.00383
NM_000550.3(TYRP1):c.977G>A (p.Arg326His) rs16929374 0.00383
NM_001379110.1(SLC9A6):c.-57+50G>T rs201523857 0.00383
NM_004153.4(ORC1):c.1186C>T (p.Arg396Trp) rs114426997 0.00382
NM_020937.4(FANCM):c.4563A>C (p.Glu1521Asp) rs113986680 0.00382
NM_022437.3(ABCG8):c.1716C>T (p.Leu572=) rs116046586 0.00382
NM_022437.3(ABCG8):c.1782C>T (p.Ser594=) rs139835626 0.00382
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=) rs58820146 0.00381
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=) rs75094258 0.00381
NM_032119.4(ADGRV1):c.3956G>A (p.Arg1319Gln) rs73181648 0.00381
NM_001194998.2(CEP152):c.4094-9A>T rs80090788 0.00380
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921 0.00380
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764 0.00379
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601 0.00379
NM_022762.5(RMND5B):c.*1670A>T rs200781371 0.00379
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350 0.00379
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) rs138171526 0.00378
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
NM_006059.4(LAMC3):c.517C>T (p.Arg173Trp) rs145775274 0.00378
NM_030787.4(CFHR5):c.254-5C>T rs185709089 0.00378
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His) rs41304892 0.00378
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=) rs45517354 0.00377
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272 0.00377
NM_013275.6(ANKRD11):c.5509C>T (p.Pro1837Ser) rs145906515 0.00377
NM_017654.4(SAMD9):c.1920C>T (p.Val640=) rs115425131 0.00377
NM_001190417.2(ZNF674):c.586C>T (p.Arg196Ter) rs182004761 0.00376
NM_001195553.2(DCX):c.588T>C (p.Arg196=) rs138706968 0.00376
NM_001364905.1(LRBA):c.2526T>C (p.Phe842=) rs139428189 0.00376
NM_020066.5(FMN2):c.696T>C (p.Pro232=) rs11583501 0.00376
NM_024809.5(TCTN2):c.810C>T (p.Asp270=) rs144567556 0.00376
NM_030928.4(CDT1):c.1221G>A (p.Pro407=) rs74035838 0.00376
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_001077418.3(TMEM231):c.891G>A (p.Val297=) rs149888762 0.00375
NM_005357.4(LIPE):c.1210C>T (p.Arg404Cys) rs138983180 0.00375
NM_000340.2(SLC2A2):c.661C>T (p.Leu221=) rs5405 0.00373
NM_001194998.2(CEP152):c.3325G>C (p.Ala1109Pro) rs115832709 0.00373
NM_002633.3(PGM1):c.573G>A (p.Ser191=) rs112502842 0.00373
NM_024809.5(TCTN2):c.1585C>G (p.Leu529Val) rs113301547 0.00373
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser) rs118203518 0.00372
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116 0.00372
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498 0.00372
NM_003560.4(PLA2G6):c.495G>C (p.Gly165=) rs150190277 0.00372
NM_004972.4(JAK2):c.3288T>A (p.Asp1096Glu) rs62637626 0.00372
NM_012309.5(SHANK2):c.4991T>C (p.Ile1664Thr) rs150857128 0.00372
NM_002291.3(LAMB1):c.2542G>C (p.Ala848Pro) rs145746791 0.00371
NM_020937.4(FANCM):c.527C>T (p.Thr176Ile) rs77374493 0.00371
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399 0.00370
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr) rs201593811 0.00370
NM_000204.5(CFI):c.1246A>C (p.Ile416Leu) rs61733901 0.00369
NM_000275.3(OCA2):c.1109T>C (p.Ile370Thr) rs34731820 0.00369
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) rs143037290 0.00369
NM_002465.4(MYBPC1):c.129C>T (p.Ser43=) rs138170393 0.00369
NM_025265.4(TSEN2):c.272-4C>G rs41293385 0.00369
NM_000039.3(APOA1):c.732C>G (p.Pro244=) rs5080 0.00368
NM_017838.4(NHP2):c.352G>A (p.Ala118Thr) rs139588879 0.00368
NM_018451.5(CENPJ):c.1233G>A (p.Pro411=) rs112133852 0.00368
NM_001291303.3(FAT4):c.2811G>T (p.Lys937Asn) rs112454576 0.00367
NM_001378418.1(TCF20):c.4241C>T (p.Ser1414Leu) rs145553394 0.00367
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_004064.5(CDKN1B):c.426G>A (p.Thr142=) rs149775942 0.00366
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_001291303.3(FAT4):c.12855T>C (p.Asp4285=) rs78040862 0.00365
NM_001377.3(DYNC2H1):c.1263C>A (p.Phe421Leu) rs142881106 0.00365
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613 0.00365
NM_001005361.3(DNM2):c.2543+7C>G rs201979143 0.00364
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325 0.00364
NM_002470.4(MYH3):c.4172+9C>T rs116028239 0.00364
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_004656.4(BAP1):c.1729+8T>C rs150945583 0.00364
NM_016343.4(CENPF):c.2271T>C (p.His757=) rs111676558 0.00364
NM_016343.4(CENPF):c.4470G>A (p.Leu1490=) rs112985127 0.00364
NM_000760.4(CSF3R):c.1319G>A (p.Arg440Gln) rs3918020 0.00363
NM_006492.3(ALX3):c.748C>G (p.Pro250Ala) rs145995775 0.00363
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_032444.4(SLX4):c.5029C>T (p.Pro1677Ser) rs7196345 0.00363
NM_000032.5(ALAS2):c.1560C>A (p.Pro520=) rs150055592 0.00362
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00362
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_001206744.2(TPO):c.30G>A (p.Thr10=) rs28909989 0.00362
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368 0.00361
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208 0.00361
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) rs76675748 0.00361
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=) rs73810366 0.00361
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg) rs2229860 0.00361
NM_001813.3(CENPE):c.4791A>C (p.Arg1597Ser) rs61751594 0.00360
NM_006059.4(LAMC3):c.4092C>T (p.Ser1364=) rs141724499 0.00360
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382 0.00359
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909 0.00359
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala) rs141464488 0.00359
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820 0.00358
NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu) rs34491822 0.00357
NM_020461.4(TUBGCP6):c.2021C>T (p.Ala674Val) rs35446002 0.00357
NM_198252.3(GSN):c.1288C>T (p.Arg430Cys) rs116185403 0.00357
NM_014008.5(CCDC22):c.1636G>A (p.Asp546Asn) rs147222955 0.00356
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004 0.00356
NM_002472.3(MYH8):c.540C>T (p.Thr180=) rs34613390 0.00355
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met) rs113861754 0.00355
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=) rs115631125 0.00354
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp) rs72648964 0.00354
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_005045.4(RELN):c.7538C>G (p.Ser2513Cys) rs114647348 0.00354
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719 0.00354
NM_015192.4(PLCB1):c.582T>C (p.Leu194=) rs150770296 0.00354
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172 0.00354
NM_133433.4(NIPBL):c.6109-3T>C rs145778995 0.00354
NM_004260.4(RECQL4):c.543G>A (p.Gln181=) rs34159914 0.00353
NM_007254.4(PNKP):c.783G>A (p.Pro261=) rs145307985 0.00353
NM_019066.5(MAGEL2):c.1286C>T (p.Pro429Leu) rs2233061 0.00353
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_000525.4(KCNJ11):c.-498T>C rs529946415 0.00352
NM_001042492.3(NF1):c.4577+12C>T rs17878332 0.00352
NM_001143992.2(WRAP53):c.823-10C>T rs117192546 0.00352
NM_005633.4(SOS1):c.2997T>C (p.Asn999=) rs145364368 0.00352
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099 0.00351
NM_002472.3(MYH8):c.2432+6A>C rs111692916 0.00351
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_005026.5(PIK3CD):c.2820T>C (p.His940=) rs28730679 0.00350
NM_015175.3(NBEAL2):c.4485-8C>T rs145760682 0.00350
NM_138982.4(MAPK10):c.960G>A (p.Ala320=) rs55663953 0.00350
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met) rs115784602 0.00349
NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp) rs28910273 0.00349
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser) rs17027133 0.00349
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161 0.00349
NM_144508.5(KNL1):c.1299T>C (p.Cys433=) rs35235972 0.00349
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175 0.00348
NM_001164508.2(NEB):c.5102T>C (p.Val1701Ala) rs117271684 0.00348
NM_020461.4(TUBGCP6):c.1118C>T (p.Pro373Leu) rs34273213 0.00348
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_002472.3(MYH8):c.4740A>C (p.Ala1580=) rs61730806 0.00347
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00346
NM_001098484.3(SLC4A4):c.2436A>G (p.Lys812=) rs34772799 0.00346
NM_001164508.2(NEB):c.3412A>G (p.Asn1138Asp) rs117048449 0.00346
NM_006231.4(POLE):c.5135C>T (p.Ala1712Val) rs5744950 0.00346
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152 0.00345
NM_000330.4(RS1):c.184+3199G>A rs36022183 0.00345
NM_003235.5(TG):c.144C>T (p.Tyr48=) rs114436500 0.00345
NM_025009.5(CEP135):c.2990C>T (p.Ser997Leu) rs146076380 0.00345
NM_001465.6(FYB1):c.1135+8C>A rs75715521 0.00344
NM_001754.5(RUNX1):c.144C>T (p.Ser48=) rs147889692 0.00344
NM_005921.2(MAP3K1):c.834+9A>G rs73135067 0.00344
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=) rs146172074 0.00344
NM_020987.5(ANK3):c.2322G>C (p.Gly774=) rs138823660 0.00344
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser) rs145110602 0.00343
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116 0.00343
NM_152383.5(DIS3L2):c.702+10T>G rs184764939 0.00343
NM_006231.4(POLE):c.2468+10C>T rs5744823 0.00342
NM_206937.2(LIG4):c.180C>T (p.Val60=) rs2232637 0.00342
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106 0.00341
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_006031.6(PCNT):c.7040T>C (p.Phe2347Ser) rs150704986 0.00341
NM_022089.4(ATP13A2):c.2724G>A (p.Ser908=) rs79724242 0.00341
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu) rs77208665 0.00340
NM_005984.5(SLC25A1):c.894T>C (p.Asp298=) rs144180074 0.00340
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=) rs56356283 0.00340
NM_006059.4(LAMC3):c.2891-8C>T rs199535979 0.00339
NM_014236.4(GNPAT):c.555A>T (p.Ile185=) rs34613633 0.00339
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_001003800.2(BICD2):c.2445G>A (p.Pro815=) rs34451610 0.00337
NM_001378120.1(MBD5):c.1638C>T (p.Ala546=) rs116413446 0.00337
NM_005055.5(RAPSN):c.162G>A (p.Ser54=) rs72905825 0.00337
NM_005546.4(ITK):c.1759G>A (p.Val587Ile) rs56005928 0.00337
NM_014444.5(TUBGCP4):c.731T>C (p.Ile244Thr) rs139658236 0.00337
NM_139058.3(ARX):c.1074-3T>C rs200700643 0.00337
NM_020066.5(FMN2):c.1259A>C (p.Lys420Thr) rs146681532 0.00336
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00335
NM_017757.3(ZNF407):c.6384G>A (p.Ala2128=) rs138221111 0.00335
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798 0.00334
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=) rs118126378 0.00334
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992 0.00334
NM_001267550.2(TTN):c.10114+5G>A rs115985443 0.00334
NM_003867.4(FGF17):c.597C>T (p.Gly199=) rs147413881 0.00334
NM_005629.4(SLC6A8):c.1437C>T (p.Ser479=) rs140115896 0.00334
NM_006947.4(SRP72):c.1640+6dup rs572508224 0.00334
NM_014008.5(CCDC22):c.536-7C>T rs191605685 0.00334
NM_001160372.4(TRAPPC9):c.3390A>C (p.Pro1130=) rs143396124 0.00333
NM_001291303.3(FAT4):c.12070C>T (p.Arg4024Trp) rs138019311 0.00333
NM_002206.3(ITGA7):c.2146A>C (p.Met716Leu) rs149403824 0.00333
NM_007347.5(AP4E1):c.1177-9T>C rs145851652 0.00333
NM_018136.5(ASPM):c.6775T>C (p.Leu2259=) rs140922974 0.00333
NM_018249.6(CDK5RAP2):c.2655C>G (p.Phe885Leu) rs112600265 0.00333
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698 0.00332
NM_001372574.1(ATXN2):c.2526A>G (p.Val842=) rs140262591 0.00332
NM_001561.6(TNFRSF9):c.166G>A (p.Ala56Thr) rs9657963 0.00332
NM_003922.4(HERC1):c.6549+5T>C rs191410508 0.00332
NM_006031.6(PCNT):c.9720G>A (p.Pro3240=) rs141991283 0.00331
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu) rs140848350 0.00331
NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=) rs148104020 0.00330
NM_020066.5(FMN2):c.5136T>G (p.Ser1712=) rs143796494 0.00330
NM_020987.5(ANK3):c.6955G>A (p.Asp2319Asn) rs140463162 0.00330
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 0.00329
NM_001129820.2(SLFN14):c.515T>C (p.Val172Ala) rs139678049 0.00329
NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=) rs116900568 0.00329
NM_006015.6(ARID1A):c.2541C>A (p.Ile847=) rs151274586 0.00329
NM_020987.5(ANK3):c.10055A>G (p.Glu3352Gly) rs61845768 0.00329
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_003597.5(KLF11):c.410A>G (p.Asp137Gly) rs145933214 0.00328
NM_012082.4(ZFPM2):c.2287G>A (p.Val763Ile) rs117908591 0.00328
NM_015102.5(NPHP4):c.4237G>A (p.Asp1413Asn) rs115910810 0.00328
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_001291303.3(FAT4):c.7358G>T (p.Ser2453Ile) rs72914988 0.00327
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187 0.00327
NM_006734.4(HIVEP2):c.6953C>A (p.Thr2318Lys) rs144732790 0.00327
NM_032638.5(GATA2):c.710G>A (p.Gly237Asp) rs191501191 0.00327
NM_001244008.2(KIF1A):c.3202+10C>A rs190997558 0.00326
NM_006087.4(TUBB4A):c.906G>A (p.Ala302=) rs144969662 0.00326
NM_006306.4(SMC1A):c.855-15C>T rs147791932 0.00326
NM_013328.4(PYCR2):c.135C>G (p.Leu45=) rs144950490 0.00326
NM_001032221.6(STXBP1):c.247-8A>G rs199827018 0.00325
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=) rs151080601 0.00325
NM_000043.6(FAS):c.550A>G (p.Ile184Val) rs28362322 0.00324
NM_000222.3(KIT):c.1383A>G (p.Thr461=) rs151016327 0.00324
NM_001164508.2(NEB):c.1675-9T>G rs75118047 0.00324
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841 0.00324
NM_001244008.2(KIF1A):c.183+7C>T rs74469870 0.00324
NM_024884.3(L2HGDH):c.6G>T (p.Val2=) rs113626637 0.00324
NM_001048166.1(STIL):c.1055G>A (p.Arg352His) rs141678367 0.00323
NM_001130969.3(NSMF):c.1467C>T (p.Phe489=) rs139341268 0.00323
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) rs78540316 0.00323
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_152783.5(D2HGDH):c.720C>A (p.Thr240=) rs147210645 0.00323
NM_001134407.3(GRIN2A):c.662A>G (p.Lys221Arg) rs61731464 0.00322
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=) rs114137271 0.00322
NM_001283009.2(RTEL1):c.396-37C>T rs41297642 0.00322
NM_002335.4(LRP5):c.2139G>A (p.Val713=) rs34369535 0.00322
NM_004991.4(MECOM):c.614-5C>G rs114414421 0.00322
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747 0.00322
NM_018062.4(FANCL):c.112C>T (p.Leu38Phe) rs55849827 0.00322
NM_025265.4(TSEN2):c.66A>C (p.Pro22=) rs62637658 0.00322
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303 0.00322
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=) rs144679294 0.00321
NM_148923.4(CYB5A):c.13T>G (p.Ser5Ala) rs75160992 0.00321
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr) rs193257576 0.00321
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783 0.00320
NM_001177316.2(SLC34A3):c.1140C>T (p.Leu380=) rs113568956 0.00320
NM_006231.4(POLE):c.123G>A (p.Thr41=) rs5744734 0.00320
NM_175914.4(HNF4A):c.-401G>A rs537336047 0.00320
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
NM_001372044.2(SHANK3):c.5185C>A (p.Pro1729Thr) rs749130556 0.00319
NM_015662.3(IFT172):c.3610G>C (p.Val1204Leu) rs7580439 0.00319
NM_000310.4(PPT1):c.363-4G>A rs117284255 0.00318
NM_020937.4(FANCM):c.3547T>C (p.Leu1183=) rs142667852 0.00318
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro) rs72650032 0.00317
NM_001643.2(APOA2):c.288G>A (p.Gln96=) rs6413454 0.00317
NM_005198.5(CHKB):c.983A>G (p.Gln328Arg) rs141381896 0.00317
NM_144508.5(KNL1):c.1129A>G (p.Ile377Val) rs144726295 0.00317
NM_001110556.2(FLNA):c.1998G>A (p.Ala666=) rs34510365 0.00316
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile) rs141624266 0.00316
NM_001363.5(DKC1):c.776A>C (p.His259Pro) rs61757608 0.00316
NM_001368809.2(AMPD2):c.1242C>T (p.Tyr414=) rs114727970 0.00316
NM_002693.3(POLG):c.134A>G (p.Gln45Arg) rs201016638 0.00316
NM_020921.4(NIN):c.3197T>A (p.Val1066Asp) rs78280523 0.00316
NM_020937.4(FANCM):c.4222+7T>G rs148675704 0.00316
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_000081.4(LYST):c.6292G>A (p.Ala2098Thr) rs146091043 0.00315
NM_018993.4(RIN2):c.1425C>A (p.Pro475=) rs188147644 0.00315
NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys) rs115954396 0.00315
NM_032122.5(DTNBP1):c.702C>T (p.Asn234=) rs78181071 0.00315
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe) rs145403829 0.00314
NM_017757.3(ZNF407):c.490A>G (p.Arg164Gly) rs74861823 0.00314
NM_018943.3(TUBA8):c.748G>A (p.Val250Met) rs145621219 0.00314
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln) rs76646638 0.00314
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_001040616.3(LINS1):c.1887C>T (p.Tyr629=) rs61999313 0.00313
NM_004260.4(RECQL4):c.3337G>C (p.Gly1113Arg) rs35101495 0.00313
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=) rs76794400 0.00313
NM_001042432.2(CLN3):c.313A>G (p.Ile105Val) rs11552531 0.00312
NM_001368809.2(AMPD2):c.1407+3A>G rs41280332 0.00312
NM_001374828.1(ARID1B):c.3768C>T (p.Thr1256=) rs142391292 0.00312
NM_002292.4(LAMB2):c.3858G>T (p.Val1286=) rs34967349 0.00312
NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser) rs145727304 0.00312
NM_017757.3(ZNF407):c.1116T>C (p.Ala372=) rs147229491 0.00312
NM_024675.4(PALB2):c.1572A>G (p.Ser524=) rs45472400 0.00312
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val) rs34165480 0.00311
NM_003383.5(VLDLR):c.464G>C (p.Ser155Thr) rs34080096 0.00311
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_007175.8(ERLIN2):c.696G>A (p.Lys232=) rs138164407 0.00311
NM_000553.6(WRN):c.95A>G (p.Lys32Arg) rs34477820 0.00310
NM_001032221.6(STXBP1):c.325+8C>T rs117372398 0.00310
NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val) rs111294536 0.00310
NM_001206999.2(CIT):c.4115T>C (p.Met1372Thr) rs116251862 0.00310
NM_001374828.1(ARID1B):c.2187C>T (p.Pro729=) rs146240413 0.00310
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu) rs144486524 0.00310
NM_004656.4(BAP1):c.1002A>G (p.Leu334=) rs28997577 0.00310
NM_012233.3(RAB3GAP1):c.2676G>T (p.Arg892Ser) rs144455066 0.00310
NM_020831.6(MRTFA):c.1332G>A (p.Pro444=) rs148478967 0.00310
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_021008.4(DEAF1):c.825C>T (p.His275=) rs144498322 0.00310
NM_001042492.3(NF1):c.340C>T (p.Leu114=) rs7207410 0.00309
NM_001378778.1(MPDZ):c.1041G>C (p.Leu347Phe) rs34911705 0.00309
NM_019066.5(MAGEL2):c.225G>A (p.Pro75=) rs564216035 0.00309
NM_020987.5(ANK3):c.2889C>T (p.Tyr963=) rs149682716 0.00309
NM_024675.4(PALB2):c.1419A>C (p.Pro473=) rs62625275 0.00309
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847 0.00308
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_000208.4(INSR):c.2971C>A (p.Leu991Ile) rs150114699 0.00307
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=) rs150425546 0.00307
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser) rs143522987 0.00307
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380 0.00307
NM_005120.3(MED12):c.1248+15T>C rs187377817 0.00307
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632 0.00307
NM_020066.5(FMN2):c.531G>A (p.Ser177=) rs148480631 0.00307
NM_181741.4(ORC4):c.857C>T (p.Ala286Val) rs75002266 0.00307
NM_000426.4(LAMA2):c.4935C>A (p.Thr1645=) rs35579821 0.00306
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795 0.00306
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met) rs61731477 0.00306
NM_004369.4(COL6A3):c.3191G>A (p.Arg1064Gln) rs112638391 0.00306
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675 0.00306
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) rs1801696 0.00305
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_001127208.3(TET2):c.3251A>C (p.Gln1084Pro) rs75056899 0.00305
NM_016343.4(CENPF):c.6433C>T (p.Arg2145Cys) rs114218080 0.00305
NM_025114.4(CEP290):c.6960+10G>A rs75011402 0.00305
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_000383.4(AIRE):c.1116G>A (p.Ser372=) rs61737006 0.00304
NM_004304.5(ALK):c.2268C>T (p.Gly756=) rs149853746 0.00304
NM_004656.4(BAP1):c.1026C>T (p.Ser342=) rs71651686 0.00304
NM_015450.3(POT1):c.903G>T (p.Gln301His) rs116916706 0.00304
NM_015662.3(IFT172):c.2551G>T (p.Val851Leu) rs149748534 0.00304
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) rs13336566 0.00303
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln) rs188101277 0.00303
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) rs142813109 0.00303
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906 0.00302
NM_005912.3(MC4R):c.606C>A (p.Phe202Leu) rs138281308 0.00302
NM_024596.5(MCPH1):c.1495G>A (p.Val499Met) rs146586991 0.00302
NM_025074.7(FRAS1):c.6301C>T (p.His2101Tyr) rs183398121 0.00302
NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val) rs149011965 0.00302
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=) rs141743294 0.00302
NM_198252.3(GSN):c.243C>T (p.Thr81=) rs116956127 0.00302
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_001267550.2(TTN):c.30426C>T (p.Asp10142=) rs147524531 0.00301
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925 0.00301
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_017547.4(FOXRED1):c.124A>C (p.Lys42Gln) rs148346044 0.00301
NM_000760.4(CSF3R):c.447G>C (p.Glu149Asp) rs139332126 0.00300
NM_001715.3(BLK):c.713G>A (p.Arg238Gln) rs141865425 0.00300
NM_003038.5(SLC1A4):c.1380G>A (p.Thr460=) rs144265531 0.00300
NM_005045.4(RELN):c.7086C>T (p.Thr2362=) rs362747 0.00300
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu) rs28903085 0.00300
NM_020937.4(FANCM):c.5577T>C (p.Asn1859=) rs113831595 0.00300
NM_001848.3(COL6A1):c.2067-10T>C rs200727020 0.00299
NM_004655.4(AXIN2):c.1530G>A (p.Thr510=) rs141014640 0.00299
NM_025077.4(TOE1):c.-45G>A rs2275602 0.00299
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245 0.00298
NM_014467.3(SRPX2):c.460C>G (p.His154Asp) rs73636611 0.00298
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_003482.4(KMT2D):c.13644C>T (p.Ser4548=) rs201119371 0.00297
NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=) rs3737682 0.00297
NM_020066.5(FMN2):c.1352T>A (p.Leu451Gln) rs145379416 0.00297
NM_021922.3(FANCE):c.1510-11C>T rs189384185 0.00297
NM_198576.4(AGRN):c.1993G>A (p.Glu665Lys) rs143324306 0.00297
NM_000162.5(GCK):c.46-12C>T rs142829768 0.00296
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=) rs13440710 0.00296
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00296
NM_001848.3(COL6A1):c.1612-6C>T rs143812383 0.00296
NM_002691.4(POLD1):c.783C>T (p.Val261=) rs34269084 0.00296
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=) rs34439033 0.00295
NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val) rs113651939 0.00295
NM_002691.4(POLD1):c.778A>G (p.Ile260Val) rs8105725 0.00295
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833 0.00295
NM_003664.5(AP3B1):c.2613C>T (p.His871=) rs144420604 0.00295
NM_004364.5(CEBPA):c.402G>A (p.Ala134=) rs752254340 0.00295
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000053.4(ATP7B):c.2355+13T>G rs139211339 0.00293
NM_004187.5(KDM5C):c.1764G>A (p.Gln588=) rs61733871 0.00293
NM_004933.3(CDH15):c.387A>G (p.Gly129=) rs147301479 0.00293
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094 0.00293
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) rs121908601 0.00293
NM_012156.2(EPB41L1):c.1643A>G (p.Lys548Arg) rs144426436 0.00293
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn) rs2219594 0.00292
NM_000142.5(FGFR3):c.393G>A (p.Ser131=) rs55662109 0.00292
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673 0.00292
NM_006059.4(LAMC3):c.2517G>A (p.Thr839=) rs140540789 0.00292
NM_020987.5(ANK3):c.5582C>T (p.Thr1861Met) rs117475706 0.00292
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_001371623.1(TCOF1):c.1281G>A (p.Ala427=) rs113299143 0.00291
NM_001458.5(FLNC):c.8003T>C (p.Met2668Thr) rs200502811 0.00291
NM_004187.5(KDM5C):c.1236C>T (p.Pro412=) rs147546892 0.00291
NM_006876.3(B4GAT1):c.828G>T (p.Val276=) rs142956522 0.00291
NM_017757.3(ZNF407):c.427G>T (p.Val143Phe) rs200158544 0.00291
NM_173560.4(RFX6):c.985G>A (p.Val329Ile) rs139343836 0.00291
NM_000059.4(BRCA2):c.7805+6C>G rs81002819 0.00290
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp) rs142893758 0.00290
NM_001109809.5(ZFP57):c.732T>C (p.Ser244=) rs190197921 0.00290
NM_001378778.1(MPDZ):c.4220A>G (p.Tyr1407Cys) rs200891478 0.00290
NM_002691.4(POLD1):c.1977C>T (p.Ile659=) rs45605236 0.00290
NM_002968.3(SALL1):c.1904C>T (p.Pro635Leu) rs146454164 0.00290
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642 0.00290
NM_012082.4(ZFPM2):c.1276G>A (p.Ala426Thr) rs35843564 0.00290
NM_006031.6(PCNT):c.6933C>T (p.Val2311=) rs148444313 0.00289
NM_015175.3(NBEAL2):c.6866G>A (p.Arg2289Gln) rs181413143 0.00289
NM_016343.4(CENPF):c.7555A>G (p.Lys2519Glu) rs149416779 0.00289
NM_174936.4(PCSK9):c.1395G>A (p.Ser465=) rs146960060 0.00289
NM_182914.3(SYNE2):c.20596C>T (p.Leu6866=) rs141474837 0.00289
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575 0.00288
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478 0.00288
NM_001291303.3(FAT4):c.4303A>G (p.Ile1435Val) rs142747281 0.00288
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_004715.5(CTDP1):c.2274G>A (p.Pro758=) rs140627086 0.00288
NM_022436.3(ABCG5):c.1763-7T>G rs114780578 0.00288
NM_000051.4(ATM):c.3993+5G>T rs3092842 0.00287
NM_000162.5(GCK):c.954G>C (p.Gly318=) rs145764627 0.00287
NM_000348.4(SRD5A2):c.594C>T (p.Ile198=) rs28383064 0.00287
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898 0.00287
NM_001614.5(ACTG1):c.714G>A (p.Lys238=) rs11549173 0.00287
NM_001830.4(CLCN4):c.1758G>A (p.Val586=) rs143437511 0.00287
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926 0.00287
NM_004260.4(RECQL4):c.3058G>A (p.Val1020Met) rs114149451 0.00287
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser) rs145733598 0.00287
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met) rs56342240 0.00287
NM_005045.4(RELN):c.906C>T (p.Ala302=) rs114494558 0.00287
NM_005445.4(SMC3):c.255A>G (p.Ser85=) rs146433240 0.00287
NM_007055.4(POLR3A):c.927C>T (p.Asp309=) rs41274610 0.00287
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323 0.00287
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694 0.00287
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00286
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439 0.00286
NM_017757.3(ZNF407):c.1991G>T (p.Ser664Ile) rs149806516 0.00286
NM_198525.3(KIF7):c.1220C>A (p.Ala407Asp) rs587780375 0.00286
NM_000208.4(INSR):c.2355G>A (p.Ser785=) rs148137322 0.00285
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) rs45630557 0.00285
NM_001384732.1(CPLANE1):c.7234-7C>G rs141575785 0.00285
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) rs61754061 0.00285
NM_004629.2(FANCG):c.640C>T (p.Arg214Cys) rs61757385 0.00285
NM_024649.5(BBS1):c.831-5C>T rs56177555 0.00285
NM_030962.4(SBF2):c.4693A>G (p.Ile1565Val) rs115345208 0.00285
NM_152703.5(SAMD9L):c.3285A>G (p.Lys1095=) rs79858266 0.00285
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=) rs75376282 0.00284
NM_001160372.4(TRAPPC9):c.588T>C (p.His196=) rs61736350 0.00284
NM_001987.5(ETV6):c.1075C>A (p.Arg359=) rs141938078 0.00284
NM_003482.4(KMT2D):c.7705G>A (p.Gly2569Ser) rs201507971 0.00284
NM_006059.4(LAMC3):c.368G>T (p.Arg123Leu) rs140461419 0.00284
NM_006231.4(POLE):c.6820C>G (p.Leu2274Val) rs148788180 0.00284
NM_019066.5(MAGEL2):c.2784C>T (p.Ile928=) rs189752384 0.00284
NM_021008.4(DEAF1):c.727A>G (p.Met243Val) rs71469813 0.00284
NM_198576.4(AGRN):c.4639G>A (p.Glu1547Lys) rs2799068 0.00284
NM_001291415.2(KDM6A):c.1683+3G>A rs61751429 0.00283
NM_003482.4(KMT2D):c.4020+13C>G rs184377216 0.00283
NM_005045.4(RELN):c.416C>G (p.Thr139Ser) rs79471015 0.00283
NM_000135.4(FANCA):c.3591G>A (p.Leu1197=) rs55773634 0.00282
NM_000552.5(VWF):c.4457C>T (p.Ser1486Leu) rs149424724 0.00282
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
NM_001429.4(EP300):c.2064A>G (p.Leu688=) rs61756763 0.00282
NM_001458.5(FLNC):c.7780+10A>G rs201149834 0.00281
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) rs2229073 0.00281
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu) rs112581563 0.00281
NM_033026.6(PCLO):c.3498G>A (p.Thr1166=) rs141881813 0.00281
NM_002168.4(IDH2):c.939A>G (p.Gly313=) rs16943901 0.00280
NM_004525.3(LRP2):c.92C>T (p.Ala31Val) rs144829356 0.00280
NM_007315.4(STAT1):c.1155G>A (p.Thr385=) rs41270237 0.00280
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe) rs186745328 0.00280
NM_020987.5(ANK3):c.2103C>T (p.Leu701=) rs142415903 0.00280
NM_020987.5(ANK3):c.756G>A (p.Thr252=) rs117266082 0.00280
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354 0.00280
NM_000426.4(LAMA2):c.5633C>T (p.Ser1878Phe) rs139586720 0.00279
NM_002711.4(PPP1R3A):c.1985_1986del (p.Gln662fs) rs527638422 0.00279
NM_004304.5(ALK):c.3837-9_3837-7dup rs373764155 0.00279
NM_007118.4(TRIO):c.8831A>G (p.Asn2944Ser) rs143213427 0.00279
NM_016222.4(DDX41):c.1299G>A (p.Pro433=) rs61736556 0.00279
NM_017721.5(CC2D1A):c.2088A>G (p.Lys696=) rs73925404 0.00279
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126 0.00278
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=) rs192386572 0.00278
NM_018136.5(ASPM):c.9444+8T>G rs140150599 0.00278
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698 0.00278
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000081.4(LYST):c.5223T>C (p.Leu1741=) rs7530527 0.00277
NM_000419.5(ITGA2B):c.1627C>T (p.Arg543Trp) rs143967758 0.00277
NM_001040142.2(SCN2A):c.387-10G>A rs2304015 0.00277
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val) rs55791823 0.00277
NM_004991.4(MECOM):c.822T>C (p.Asp274=) rs142578153 0.00277
NM_006087.4(TUBB4A):c.915G>A (p.Pro305=) rs149903666 0.00277
NM_014795.4(ZEB2):c.489C>T (p.Ile163=) rs138859323 0.00277
NM_018249.6(CDK5RAP2):c.5355G>A (p.Thr1785=) rs145402135 0.00277
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys) rs34702903 0.00276
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg) rs78488552 0.00276
NM_001377304.1(GFI1B):c.148T>C (p.Phe50Leu) rs139685732 0.00276
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_019892.6(INPP5E):c.1159+8C>T rs73566945 0.00276
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys) rs116920018 0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_001308093.3(GATA4):c.825C>T (p.Cys275=) rs55980825 0.00275
NM_006910.5(RBBP6):c.3545G>A (p.Arg1182His) rs116616570 0.00275
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086 0.00275
NM_173630.4(RTTN):c.5143A>G (p.Asn1715Asp) rs35374168 0.00275
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) rs149758808 0.00275
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902 0.00274
NM_000686.5(AGTR2):c.62G>T (p.Gly21Val) rs121917810 0.00274
NM_000969.5(RPL5):c.3+3G>C rs200628272 0.00274
NM_001083962.2(TCF4):c.1905G>A (p.Ala635=) rs151150677 0.00274
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155 0.00274
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994 0.00274
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu) rs72646840 0.00274
NM_001378030.1(CCDC78):c.60T>C (p.Asn20=) rs73489339 0.00274
NM_004473.4(FOXE1):c.285A>G (p.Lys95=) rs139551528 0.00274
NM_006005.3(WFS1):c.2205C>T (p.Tyr735=) rs71530911 0.00274
NM_016373.4(WWOX):c.1134C>T (p.Asn378=) rs201088847 0.00274
NM_018341.3(ERMARD):c.1695G>A (p.Thr565=) rs144899015 0.00274
NM_025009.5(CEP135):c.1254A>G (p.Arg418=) rs62641662 0.00274
NM_032806.6(POMGNT2):c.364G>A (p.Val122Met) rs149948290 0.00274
NM_000077.5(CDKN2A):c.174A>C (p.Arg58=) rs201208890 0.00273
NM_001194998.2(CEP152):c.5115A>G (p.Pro1705=) rs1048042 0.00273
NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly) rs72648980 0.00273
NM_003619.4(PRSS12):c.523G>A (p.Gly175Ser) rs145151396 0.00273
NM_020822.3(KCNT1):c.333G>A (p.Ser111=) rs56008253 0.00273
NM_030773.4(TUBB1):c.396C>G (p.Gly132=) rs61757565 0.00273
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272
NM_000540.3(RYR1):c.8376G>A (p.Arg2792=) rs150388417 0.00272
NM_001283009.2(RTEL1):c.3693G>A (p.Thr1231=) rs181080831 0.00272
NM_007315.4(STAT1):c.990G>A (p.Gln330=) rs41509946 0.00272
NM_019892.6(INPP5E):c.1299G>A (p.Ala433=) rs56931633 0.00272
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu) rs111866410 0.00271
NM_001395413.1(POR):c.674C>T (p.Pro225Leu) rs17853284 0.00271
NM_004153.4(ORC1):c.2226C>A (p.Ser742=) rs34644009 0.00271
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_000352.6(ABCC8):c.-8G>T rs200091822 0.00270
NM_001626.6(AKT2):c.93C>T (p.Ser31=) rs35588791 0.00270
NM_002439.5(MSH3):c.2511G>A (p.Leu837=) rs149628160 0.00270
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg) rs146165014 0.00270
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202 0.00270
NM_017721.5(CC2D1A):c.2440G>T (p.Ala814Ser) rs56359259 0.00270
NM_018341.3(ERMARD):c.265C>A (p.Gln89Lys) rs148450358 0.00270
NM_024426.6(WT1):c.181C>A (p.Arg61=) rs2234581 0.00270
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser) rs140824939 0.00270
NM_147127.5(EVC2):c.3659+8T>C rs200119306 0.00270
NM_000186.4(CFH):c.3150T>C (p.Asn1050=) rs113347629 0.00269
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00269
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) rs139180845 0.00269
NM_000038.6(APC):c.4893T>C (p.Ser1631=) rs35634377 0.00268
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_015275.3(WASHC4):c.2162G>A (p.Arg721His) rs74426960 0.00268
NM_020937.4(FANCM):c.2749A>G (p.Ile917Val) rs148871932 0.00268
NM_139027.6(ADAMTS13):c.3171G>A (p.Ala1057=) rs36222580 0.00268
NM_000314.8(PTEN):c.-165C>G rs575260016 0.00267
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564 0.00267
NM_006516.4(SLC2A1):c.1296C>T (p.Tyr432=) rs75485205 0.00267
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) rs141330687 0.00267
NM_033022.4(RPS24):c.168T>C (p.Phe56=) rs57866839 0.00267
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_016302.4(CRBN):c.88G>A (p.Glu30Lys) rs78564552 0.00266
NM_032237.5(POMK):c.714C>T (p.Ser238=) rs148949414 0.00266
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg) rs641252 0.00265
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys) rs186486235 0.00265
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg) rs72646823 0.00264
NM_001614.5(ACTG1):c.471C>T (p.Asp157=) rs11549222 0.00264
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066 0.00264
NM_018100.4(EFHC1):c.25T>C (p.Leu9=) rs149315015 0.00264
NM_020461.4(TUBGCP6):c.3382A>C (p.Arg1128=) rs1266725037 0.00264
NM_032415.7(CARD11):c.3144+9G>A rs112606562 0.00264
NM_032638.5(GATA2):c.66C>G (p.Pro22=) rs113384352 0.00264
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438 0.00263
NM_020921.4(NIN):c.2041G>A (p.Gly681Arg) rs142733791 0.00263
NM_000207.3(INS):c.188-10G>A rs41275198 0.00262
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_001080414.4(CCDC88C):c.5654G>A (p.Arg1885His) rs61742126 0.00262
NM_001126049.2(KLLN):c.-898G>A rs538728843 0.00262
NM_001126049.2(KLLN):c.382C>G (p.Arg128Gly) rs201652303 0.00262
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949 0.00262
NM_001673.5(ASNS):c.144C>T (p.His48=) rs11554431 0.00262
NM_019066.5(MAGEL2):c.2886C>T (p.Ser962=) rs2233068 0.00262
NM_033026.6(PCLO):c.5632A>G (p.Ile1878Val) rs150515688 0.00262
NM_000064.4(C3):c.4878T>C (p.Thr1626=) rs1803223 0.00261
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=) rs34338935 0.00261
NM_001379286.1(ZNF423):c.3393C>T (p.Pro1131=) rs61755180 0.00261
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=) rs34201226 0.00261
NM_004168.4(SDHA):c.146A>G (p.Asp49Gly) rs80207011 0.00261
NM_004260.4(RECQL4):c.3435G>C (p.Gln1145His) rs61755066 0.00261
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240 0.00261
NM_152564.5(VPS13B):c.9330+9A>G rs184381851 0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869 0.00260
NM_006947.4(SRP72):c.58C>T (p.Arg20Trp) rs111673705 0.00260
NM_014915.3(ANKRD26):c.1747C>G (p.Gln583Glu) rs56151272 0.00260
NM_014915.3(ANKRD26):c.2584C>G (p.Gln862Glu) rs74128547 0.00260
NM_032638.5(GATA2):c.-5C>G rs374415484 0.00260
NM_000939.4(POMC):c.346C>T (p.Leu116=) rs34650613 0.00259
NM_002693.3(POLG):c.948G>A (p.Lys316=) rs61756401 0.00259
NM_004168.4(SDHA):c.1413C>T (p.Ile471=) rs34779890 0.00259
NM_013328.4(PYCR2):c.399A>G (p.Thr133=) rs112885589 0.00259
NM_013372.7(GREM1):c.103C>G (p.Pro35Ala) rs111262341 0.00259
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg) rs138658585 0.00259
NM_001008537.3(NEXMIF):c.4246C>T (p.Pro1416Ser) rs143577015 0.00258
NM_001113378.2(FANCI):c.3255+6dup rs878854178 0.00258
NM_001123385.2(BCOR):c.408C>T (p.Ala136=) rs139802143 0.00258
NM_001429.4(EP300):c.5814G>A (p.Thr1938=) rs112948044 0.00258
NM_001429.4(EP300):c.865A>G (p.Met289Val) rs2230111 0.00258
NM_006059.4(LAMC3):c.4160C>T (p.Ala1387Val) rs141497885 0.00258
NM_006306.4(SMC1A):c.1254+11G>C rs144354524 0.00258
NM_013382.7(POMT2):c.924-10C>T rs142122657 0.00258
NM_152618.3(BBS12):c.1287T>C (p.Ser429=) rs17006094 0.00258
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036 0.00257
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val) rs139814895 0.00257
NM_001164508.2(NEB):c.10744G>A (p.Val3582Ile) rs139798654 0.00257
NM_001374828.1(ARID1B):c.318G>A (p.Ala106=) rs533182720 0.00257
NM_002168.4(IDH2):c.327G>A (p.Val109=) rs150943639 0.00257
NM_002303.6(LEPR):c.3417A>G (p.Ala1139=) rs61781316 0.00257
NM_004329.3(BMPR1A):c.618A>G (p.Leu206=) rs55992440 0.00257
NM_005739.4(RASGRP1):c.1548C>T (p.Leu516=) rs61759869 0.00257
NM_014915.3(ANKRD26):c.2559+3A>G rs192827581 0.00257
NM_022081.6(HPS4):c.1883G>A (p.Arg628His) rs78892693 0.00257
NM_030665.4(RAI1):c.610C>T (p.Pro204Ser) rs138332224 0.00257
NM_175914.5(HNF4A):c.744C>T (p.Asp248=) rs6031592 0.00257
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) rs3027927 0.00256
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg) rs117844037 0.00256
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val) rs191830054 0.00256
NM_000361.3(THBD):c.127G>A (p.Ala43Thr) rs1800576 0.00255
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met) rs375045076 0.00255
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr) rs202233363 0.00255
NM_004360.5(CDH1):c.324A>G (p.Arg108=) rs116542018 0.00255
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala) rs41279055 0.00255
NM_144988.4(ALG14):c.113G>T (p.Ser38Ile) rs139521179 0.00255
NM_173630.4(RTTN):c.2990C>T (p.Ala997Val) rs143471549 0.00255
NM_198253.3(TERT):c.1812A>G (p.Ala604=) rs33959226 0.00255
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968 0.00253
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser) rs143877693 0.00253
NM_018136.5(ASPM):c.9996T>C (p.Thr3332=) rs139927527 0.00253
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp) rs1872267 0.00253
NM_000081.4(LYST):c.2363+4T>C rs201398337 0.00252
NM_001040142.2(SCN2A):c.2955C>T (p.Ser985=) rs149859004 0.00252
NM_001283009.2(RTEL1):c.3823-5C>G rs141522376 0.00252
NM_003355.3(UCP2):c.227G>A (p.Arg76Gln) rs45541732 0.00252
NM_017757.3(ZNF407):c.6069G>T (p.Leu2023=) rs189911859 0.00252
NM_025009.5(CEP135):c.2065A>G (p.Ile689Val) rs139407231 0.00252
NM_025074.7(FRAS1):c.2861C>T (p.Thr954Met) rs17003166 0.00252
NM_001113378.2(FANCI):c.2604A>C (p.Glu868Asp) rs118031800 0.00251
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=) rs116413101 0.00251
NM_014915.3(ANKRD26):c.2332G>C (p.Glu778Gln) rs139949439 0.00251
NM_015175.3(NBEAL2):c.2376G>A (p.Arg792=) rs200489667 0.00251
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) rs77138370 0.00251
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala) rs2306618 0.00250
NM_003619.4(PRSS12):c.1490-7G>A rs183541303 0.00250
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00250
NM_138711.6(PPARG):c.1362C>T (p.Ile454=) rs149367249 0.00250
NM_000162.5(GCK):c.209-8G>A rs144798843 0.00249
NM_001040616.3(LINS1):c.1813A>G (p.Met605Val) rs141855950 0.00249
NM_003560.4(PLA2G6):c.972G>A (p.Ala324=) rs147755372 0.00249
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832 0.00249
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln) rs113591604 0.00249
NM_018993.4(RIN2):c.1141C>T (p.Arg381Trp) rs199954296 0.00249
NM_182914.3(SYNE2):c.10835A>G (p.Gln3612Arg) rs78110192 0.00249
NM_000276.4(OCRL):c.439+3A>G rs61752971 0.00248
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=) rs138675752 0.00248
NM_001360.3(DHCR7):c.399C>T (p.Ala133=) rs147424205 0.00248
NM_005629.4(SLC6A8):c.813C>T (p.Val271=) rs138064933 0.00248
NM_006009.4(TUBA1A):c.966C>T (p.Asp322=) rs142641191 0.00248
NM_017757.3(ZNF407):c.1908C>T (p.Thr636=) rs187139901 0.00248
NM_025009.5(CEP135):c.3265T>A (p.Leu1089Ile) rs76659072 0.00248
NM_032806.6(POMGNT2):c.450A>G (p.Pro150=) rs142190930 0.00248
NM_000939.4(POMC):c.583G>A (p.Ala195Thr) rs141309351 0.00247
NM_001080517.3(SETD5):c.4115C>T (p.Thr1372Ile) rs62246321 0.00247
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077 0.00247
NM_003282.4(TNNI2):c.354G>A (p.Ser118=) rs141400587 0.00247
NM_000099.4(CST3):c.417G>A (p.Ser139=) rs77000936 0.00246
NM_003467.3(CXCR4):c.783C>T (p.Ile261=) rs148279552 0.00246
NM_004260.4(RECQL4):c.1390+3G>A rs148912524 0.00246
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141 0.00245
NM_000553.6(WRN):c.970A>G (p.Thr324Ala) rs1800390 0.00245
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile) rs151266052 0.00245
NM_004752.4(GCM2):c.157G>A (p.Asp53Asn) rs11963186 0.00245
NM_005357.4(LIPE):c.117G>A (p.Ser39=) rs41275756 0.00245
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val) rs140067659 0.00245
NM_020320.5(RARS2):c.-8A>C rs28381459 0.00245
NM_144508.5(KNL1):c.1233G>C (p.Met411Ile) rs116093409 0.00245
NM_001040616.3(LINS1):c.1194A>G (p.Gln398=) rs138347314 0.00244
NM_001291303.3(FAT4):c.7935C>T (p.Asp2645=) rs146157250 0.00244
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser) rs146197239 0.00244
NM_001194998.2(CEP152):c.4744T>C (p.Ser1582Pro) rs77745570 0.00243
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_018249.6(CDK5RAP2):c.5578T>C (p.Leu1860=) rs77100552 0.00243
NM_018993.4(RIN2):c.1338G>C (p.Arg446=) rs367993633 0.00243
NM_020937.4(FANCM):c.1040C>T (p.Pro347Leu) rs151071546 0.00243
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544 0.00243
NM_000096.4(CP):c.1430C>T (p.Pro477Leu) rs35331711 0.00242
NM_001291303.3(FAT4):c.5987A>G (p.Lys1996Arg) rs140055438 0.00242
NM_002291.3(LAMB1):c.2113G>C (p.Val705Leu) rs34150332 0.00242
NM_006031.6(PCNT):c.9274-3C>T rs200348425 0.00242
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776 0.00242
NM_198428.3(BBS9):c.2632+9C>A rs148654647 0.00242
NM_003072.5(SMARCA4):c.2757C>T (p.Pro919=) rs113955216 0.00241
NM_012082.4(ZFPM2):c.2501A>G (p.Lys834Arg) rs113289249 0.00241
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu) rs147106995 0.00240
NM_001012339.3(DNAJC21):c.334C>T (p.Arg112Cys) rs187780009 0.00240
NM_002435.3(MPI):c.303C>T (p.Leu101=) rs139228075 0.00240
NM_005876.5(SPEG):c.6076C>G (p.Arg2026Gly) rs531879999 0.00240
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys) rs5744933 0.00240
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_020987.5(ANK3):c.2316G>A (p.Gln772=) rs143430852 0.00240
NM_024782.3(NHEJ1):c.258C>T (p.Asp86=) rs113689741 0.00240
NM_177438.3(DICER1):c.1377-4T>G rs192490028 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_001379110.1(SLC9A6):c.1460+4A>G rs180727016 0.00239
NM_002578.5(PAK3):c.531G>A (p.Glu177=) rs56270341 0.00239
NM_003235.5(TG):c.7083G>T (p.Ala2361=) rs116723711 0.00239
NM_016648.4(LARP7):c.734A>G (p.Asn245Ser) rs61602805 0.00239
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser) rs190548814 0.00239
NM_018993.4(RIN2):c.1917G>A (p.Leu639=) rs368610064 0.00239
NM_000240.4(MAOA):c.825G>A (p.Pro275=) rs138703731 0.00238
NM_000426.4(LAMA2):c.6429+8C>A rs199773264 0.00238
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566 0.00238
NM_002335.4(LRP5):c.4431C>T (p.His1477=) rs11574426 0.00238
NM_003383.5(VLDLR):c.982A>G (p.Ser328Gly) rs116306908 0.00238
NM_003482.4(KMT2D):c.6573G>A (p.Thr2191=) rs202085637 0.00238
NM_006031.6(PCNT):c.8224G>C (p.Glu2742Gln) rs35557109 0.00238
NM_015662.3(IFT172):c.3357C>T (p.His1119=) rs76787560 0.00238
NM_016343.4(CENPF):c.3811A>G (p.Lys1271Glu) rs62000407 0.00238
NM_000064.4(C3):c.2394C>T (p.Ser798=) rs112178657 0.00237
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr) rs139468837 0.00237
NM_001384732.1(CPLANE1):c.8958+4A>C rs199810663 0.00237
NM_003664.5(AP3B1):c.1040+9T>A rs201876461 0.00237
NM_022895.3(C12orf43):c.*2956C>T rs112986697 0.00237
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202 0.00236
NM_004360.5(CDH1):c.345G>A (p.Thr115=) rs1801023 0.00236
NM_014141.6(CNTNAP2):c.681C>T (p.His227=) rs142984073 0.00236
NM_024809.5(TCTN2):c.720C>G (p.Pro240=) rs149430216 0.00236
NM_025009.5(CEP135):c.638T>C (p.Val213Ala) rs150331261 0.00236
NM_000096.4(CP):c.322C>T (p.His108Tyr) rs34386552 0.00235
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250 0.00235
NM_000497.4(CYP11B1):c.395+9C>T rs61751140 0.00235
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln) rs201619500 0.00235
NM_018117.12(WDR11):c.1425G>A (p.Pro475=) rs117848117 0.00235
NM_020921.4(NIN):c.2987C>T (p.Ala996Val) rs41313507 0.00235
NM_024740.2(ALG9):c.815A>G (p.Tyr272Cys) rs145762575 0.00235
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys) rs139441507 0.00235
NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr) rs149504235 0.00235
NM_000124.4(ERCC6):c.2403C>T (p.Ala801=) rs114896216 0.00234
NM_001128840.3(CACNA1D):c.1407C>T (p.Ser469=) rs146730044 0.00234
NM_002519.3(NPAT):c.3646A>G (p.Asn1216Asp) rs189775078 0.00234
NM_020461.4(TUBGCP6):c.4929C>T (p.Asp1643=) rs147939592 0.00234
NM_138425.4(C12orf57):c.86C>T (p.Ala29Val) rs139938808 0.00234
NM_000057.4(BLM):c.4077-10C>T rs145310008 0.00233
NM_001017975.6(HFM1):c.2308G>A (p.Asp770Asn) rs143399622 0.00233
NM_001377458.1(CLCC1):c.*2854T>C rs138132875 0.00233
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825 0.00233
NM_002291.3(LAMB1):c.476C>G (p.Thr159Ser) rs140146478 0.00233
NM_002439.5(MSH3):c.2732T>G (p.Leu911Trp) rs41545019 0.00233
NM_003072.5(SMARCA4):c.981A>C (p.Pro327=) rs547268941 0.00233
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=) rs142528559 0.00233
NM_005357.4(LIPE):c.1555G>A (p.Asp519Asn) rs147012229 0.00233
NM_015107.3(PHF8):c.2720G>A (p.Arg907His) rs142630105 0.00233
NM_015330.6(SPECC1L):c.2882C>T (p.Ala961Val) rs5996694 0.00233
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567 0.00233
NM_000545.8(HNF1A):c.1425G>A (p.Pro475=) rs145589373 0.00232
NM_001371623.1(TCOF1):c.122C>T (p.Ala41Val) rs56180593 0.00232
NM_002519.3(NPAT):c.750A>G (p.Arg250=) rs184954520 0.00232
NM_004924.6(ACTN4):c.1608C>T (p.Arg536=) rs139575917 0.00232
NM_007254.4(PNKP):c.1497G>A (p.Leu499=) rs142199280 0.00232
NM_025009.5(CEP135):c.2971A>G (p.Met991Val) rs115646074 0.00232
NM_025077.4(TOE1):c.897C>T (p.Ile299=) rs150174457 0.00232
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729 0.00231
NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile) rs62640002 0.00231
NM_017757.3(ZNF407):c.4278G>A (p.Leu1426=) rs201719725 0.00231
NM_198576.4(AGRN):c.773C>T (p.Thr258Ile) rs200607541 0.00231
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_004752.4(GCM2):c.168G>C (p.Lys56Asn) rs11963184 0.00230
NM_005257.6(GATA6):c.1374C>T (p.Asn458=) rs143026087 0.00230
NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=) rs149172723 0.00230
NM_014994.3(MAPKBP1):c.1420G>A (p.Val474Met) rs142978237 0.00230
NM_138422.4(ADAT3):c.383G>T (p.Arg128Leu) rs200992550 0.00230
NM_173630.4(RTTN):c.4303-8A>G rs199597732 0.00230
NM_001048166.1(STIL):c.1024-4T>C rs188900275 0.00229
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn) rs144177566 0.00229
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231 0.00229
NM_001363.4(DKC1):c.-142C>G rs199422241 0.00229
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=) rs61736186 0.00229
NM_152703.5(SAMD9L):c.1216C>T (p.Arg406Ter) rs150070697 0.00229
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=) rs61754138 0.00228
NM_000458.4(HNF1B):c.444G>A (p.Ser148=) rs147218489 0.00228
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631 0.00228
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238 0.00228
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_006118.4(HAX1):c.207A>T (p.Pro69=) rs142150013 0.00228
NM_007347.5(AP4E1):c.2346+10C>T rs112190952 0.00228
NM_014159.7(SETD2):c.2783C>G (p.Thr928Arg) rs72895708 0.00228
NM_016553.5(NUP62):c.192C>T (p.Thr64=) rs145084636 0.00228
NM_032638.5(GATA2):c.333C>T (p.His111=) rs148554346 0.00228
NM_000540.3(RYR1):c.216G>T (p.Leu72=) rs113389877 0.00227
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr) rs189186475 0.00227
NM_002435.3(MPI):c.414G>A (p.Met138Ile) rs150217523 0.00227
NM_004260.4(RECQL4):c.891C>T (p.Asp297=) rs34700133 0.00227
NM_005502.4(ABCA1):c.5774G>A (p.Arg1925Gln) rs142688906 0.00227
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg) rs142938748 0.00227
NM_000064.4(C3):c.4100T>C (p.Ile1367Thr) rs11569541 0.00226
NM_032237.5(POMK):c.1006G>A (p.Asp336Asn) rs113361507 0.00226
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217 0.00225
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591 0.00225
NM_001429.4(EP300):c.6636G>A (p.Gln2212=) rs142673005 0.00225
NM_017934.7(PHIP):c.2256G>A (p.Arg752=) rs149171291 0.00225
NM_000426.4(LAMA2):c.8755C>T (p.Pro2919Ser) rs143026295 0.00224
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile) rs116105846 0.00224
NM_001101362.3(KBTBD13):c.1077A>G (p.Gly359=) rs199526404 0.00224
NM_001371596.2(MFSD8):c.66A>T (p.Glu22Asp) rs145529594 0.00224
NM_004153.4(ORC1):c.2427G>A (p.Glu809=) rs77077945 0.00224
NM_020717.5(SHROOM4):c.2192A>G (p.Glu731Gly) rs144727288 0.00224
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=) rs74550830 0.00224
NM_198253.3(TERT):c.969G>A (p.Pro323=) rs148549782 0.00224
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=) rs55696153 0.00223
NM_003383.5(VLDLR):c.2291C>T (p.Thr764Met) rs56737058 0.00223
NM_003482.4(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661 0.00223
NM_005670.4(EPM2A):c.393G>A (p.Glu131=) rs61758155 0.00223
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) rs61735401 0.00223
NM_024598.4(USB1):c.641G>A (p.Cys214Tyr) rs146685901 0.00223
NM_025077.4(TOE1):c.1379C>T (p.Pro460Leu) rs149059377 0.00223
NM_152703.5(SAMD9L):c.1503A>G (p.Arg501=) rs75446743 0.00223
NM_000744.7(CHRNA4):c.1353G>A (p.Pro451=) rs113168860 0.00222
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) rs139687326 0.00222
NM_001715.3(BLK):c.116C>T (p.Pro39Leu) rs142352008 0.00222
NM_002354.3(EPCAM):c.858G>A (p.Leu286=) rs138718438 0.00222
NM_004826.4(ECEL1):c.1858G>A (p.Asp620Asn) rs142492002 0.00222
NM_005271.5(GLUD1):c.909A>C (p.Thr303=) rs113997422 0.00222
NM_005343.4(HRAS):c.477G>A (p.Leu159=) rs140060409 0.00222
NM_020987.5(ANK3):c.2523T>C (p.Asn841=) rs144773457 0.00222
NM_024747.6(HPS6):c.337C>T (p.Arg113Trp) rs371307947 0.00222
NM_173689.7(CRB2):c.468G>A (p.Leu156=) rs146419635 0.00222
NM_000212.3(ITGB3):c.557C>T (p.Pro186Leu) rs61736876 0.00221
NM_005359.6(SMAD4):c.1140-10T>C rs186332162 0.00221
NM_020066.5(FMN2):c.4619C>T (p.Ser1540Leu) rs150801382 0.00221
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys) rs140308808 0.00221
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00220
NM_001048166.1(STIL):c.3581C>T (p.Pro1194Leu) rs144746030 0.00220
NM_001366110.1(PAX4):c.599G>A (p.Arg200His) rs2233580 0.00220
NM_003664.5(AP3B1):c.2730T>C (p.Thr910=) rs143527588 0.00220
NM_024306.5(FA2H):c.847G>A (p.Val283Ile) rs138244546 0.00220
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu) rs150563155 0.00220
NM_182914.3(SYNE2):c.11935C>G (p.Leu3979Val) rs76576553 0.00220
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_000135.4(FANCA):c.3514-4A>G rs149388130 0.00219
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_001379500.1(COL18A1):c.3314G>A (p.Arg1105Gln) rs374207420 0.00219
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299 0.00219
NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp) rs41290646 0.00218
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171 0.00218
NM_001145306.2(CDK6):c.949A>T (p.Ser317Cys) rs140409009 0.00218
NM_001199397.3(NEK1):c.975A>G (p.Gly325=) rs150904906 0.00218
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser) rs140666848 0.00218
NM_004972.4(JAK2):c.3323A>G (p.Asn1108Ser) rs142269166 0.00218
NM_032444.4(SLX4):c.2290C>G (p.Pro764Ala) rs151105762 0.00218
NM_152703.5(SAMD9L):c.3028C>G (p.Gln1010Glu) rs117342581 0.00218
NM_177438.3(DICER1):c.485G>A (p.Gly162Asp) rs142815547 0.00218
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00217
NM_001291303.3(FAT4):c.524G>T (p.Arg175Leu) rs143534324 0.00217
NM_001813.3(CENPE):c.3749C>G (p.Thr1250Ser) rs114698062 0.00217
NM_005506.4(SCARB2):c.445G>A (p.Val149Met) rs147159813 0.00217
NM_012301.4(MAGI2):c.900A>G (p.Glu300=) rs111635934 0.00217
NM_018136.5(ASPM):c.1717C>T (p.Arg573Trp) rs144049904 0.00217
NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly) rs45540031 0.00217
NM_032531.4(KIRREL3):c.1983G>A (p.Leu661=) rs375855596 0.00217
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_173630.4(RTTN):c.3338G>A (p.Cys1113Tyr) rs117774280 0.00217
NM_201525.4(ADGRG1):c.174C>T (p.Ile58=) rs140963173 0.00217
NM_203447.4(DOCK8):c.2310G>A (p.Glu770=) rs116175117 0.00217
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys) rs72646861 0.00216
NM_001366110.1(PAX4):c.456C>T (p.Val152=) rs61749955 0.00216
NM_005055.5(RAPSN):c.960G>A (p.Gly320=) rs145357531 0.00216
NM_173630.4(RTTN):c.4193C>T (p.Thr1398Met) rs62089120 0.00216
NM_000051.4(ATM):c.370A>G (p.Ile124Val) rs148590073 0.00215
NM_001083961.2(WDR62):c.4312-5T>G rs182467995 0.00215
NM_001126121.2(SLC25A19):c.483C>T (p.Ala161=) rs142281464 0.00215
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val) rs181295720 0.00215
NM_001493.3(GDI1):c.324C>T (p.Ser108=) rs2230286 0.00215
NM_014915.3(ANKRD26):c.2679A>G (p.Gln893=) rs61730098 0.00215
NM_032122.5(DTNBP1):c.662G>A (p.Arg221Gln) rs76349207 0.00215
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=) rs370286749 0.00214
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser) rs139691746 0.00214
NM_003235.5(TG):c.7665C>T (p.Arg2555=) rs115139074 0.00214
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp) rs77021998 0.00214
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141 0.00213
NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile) rs137956605 0.00213
NM_001014.5(RPS10):c.408C>T (p.Ala136=) rs147566753 0.00213
NM_001040616.3(LINS1):c.2119G>A (p.Gly707Arg) rs74039425 0.00213
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=) rs61755436 0.00213
NM_024301.5(FKRP):c.1440C>T (p.Asn480=) rs115365212 0.00213
NM_203447.4(DOCK8):c.1582C>A (p.Leu528Met) rs146250176 0.00213
NM_001378030.1(CCDC78):c.966C>A (p.Asn322Lys) rs148595483 0.00212
NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr) rs111294855 0.00212
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239 0.00212
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=) rs144520412 0.00211
NM_001378778.1(MPDZ):c.1975G>A (p.Val659Ile) rs77838108 0.00211
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616 0.00210
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_005525.4(HSD11B1):c.744G>C (p.Gly248=) rs41283132 0.00210
NM_014141.6(CNTNAP2):c.551-11T>G rs78223661 0.00210
NM_018100.4(EFHC1):c.1155C>T (p.Asn385=) rs115913738 0.00210
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp) rs73505420 0.00210
NM_170707.4(LMNA):c.1761G>A (p.Leu587=) rs80356813 0.00210
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254 0.00209
NM_001244008.2(KIF1A):c.2898C>G (p.Pro966=) rs140783695 0.00209
NM_001374828.1(ARID1B):c.1194A>C (p.Gly398=) rs112474841 0.00209
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_014491.4(FOXP2):c.552A>G (p.Gln184=) rs146945410 0.00209
NM_000744.7(CHRNA4):c.1143C>T (p.Ala381=) rs75221202 0.00208
NM_001122630.2(CDKN1C):c.99C>T (p.Arg33=) rs149717696 0.00208
NM_001673.5(ASNS):c.1587G>A (p.Arg529=) rs140975053 0.00208
NM_004456.5(EZH2):c.1852-6C>T rs78589034 0.00208
NM_012156.2(EPB41L1):c.1451C>T (p.Pro484Leu) rs147654123 0.00208
NM_024642.5(GALNT12):c.1497C>T (p.Asn499=) rs35632007 0.00208
NM_001042413.2(GLIS3):c.1430C>T (p.Ala477Val) rs114838275 0.00207
NM_001458.5(FLNC):c.2507C>A (p.Pro836Gln) rs199652368 0.00207
NM_005732.4(RAD50):c.980G>A (p.Arg327His) rs28903091 0.00207
NM_016343.4(CENPF):c.1055A>G (p.Gln352Arg) rs6697155 0.00207
NM_018136.5(ASPM):c.8255T>G (p.Met2752Arg) rs148328539 0.00207
NM_030928.4(CDT1):c.1411C>G (p.Pro471Ala) rs141663679 0.00207
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_198253.3(TERT):c.3105C>T (p.Val1035=) rs181612536 0.00207
NM_203447.4(DOCK8):c.528+7C>A rs114833839 0.00207
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln) rs7437875 0.00206
NM_000540.3(RYR1):c.12283-7C>T rs143861818 0.00206
NM_000834.5(GRIN2B):c.3552C>T (p.Gly1184=) rs141886903 0.00206
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) rs72650019 0.00206
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_004168.4(SDHA):c.1623G>A (p.Lys541=) rs35502109 0.00206
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00206
NM_020461.4(TUBGCP6):c.5139C>T (p.His1713=) rs149152116 0.00206
NM_022455.5(NSD1):c.4520C>T (p.Thr1507Met) rs144900277 0.00206
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=) rs76881473 0.00206
NM_000550.3(TYRP1):c.306C>T (p.Asn102=) rs145152954 0.00205
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile) rs11900987 0.00205
NM_001371623.1(TCOF1):c.3712G>A (p.Ala1238Thr) rs137960641 0.00205
NM_005431.2(XRCC2):c.808T>G (p.Phe270Val) rs145085742 0.00205
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995 0.00205
NM_014254.3(RXYLT1):c.294C>T (p.Leu98=) rs114694892 0.00205
NM_152703.5(SAMD9L):c.3027T>C (p.Cys1009=) rs149908158 0.00205
NM_153717.3(EVC):c.939+9C>T rs201282320 0.00205
NM_001126121.2(SLC25A19):c.797T>G (p.Met266Arg) rs148372053 0.00204
NM_001191061.2(SLC25A22):c.169G>A (p.Val57Ile) rs150242281 0.00204
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr) rs55837610 0.00204
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp) rs201074268 0.00204
NM_004260.4(RECQL4):c.565G>A (p.Gly189Ser) rs34371341 0.00204
NM_004523.4(KIF11):c.2166T>G (p.Leu722=) rs147721514 0.00204
NM_015559.3(SETBP1):c.4640C>A (p.Thr1547Asn) rs201973930 0.00204
NM_032833.5(PPP1R15B):c.136G>A (p.Gly46Arg) rs149785262 0.00204
NM_207361.6(FREM2):c.9113T>C (p.Val3038Ala) rs114688149 0.00204
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu) rs149478199 0.00203
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892 0.00202
NM_001206999.2(CIT):c.1296-5C>T rs182092782 0.00202
NM_001329943.3(KIAA0586):c.3283A>C (p.Lys1095Gln) rs140565291 0.00202
NM_014915.3(ANKRD26):c.92G>C (p.Gly31Ala) rs199849785 0.00202
NM_015080.4(NRXN2):c.3213C>G (p.Leu1071=) rs139264192 0.00202
NM_024675.4(PALB2):c.1810C>T (p.Leu604=) rs144015319 0.00202
NM_024675.4(PALB2):c.721A>G (p.Asn241Asp) rs113217267 0.00202
NM_025009.5(CEP135):c.2755A>C (p.Arg919=) rs151170797 0.00202
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338 0.00201
NM_000463.3(UGT1A1):c.540A>G (p.Glu180=) rs148755655 0.00201
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg) rs200662010 0.00201
NM_001354604.2(MITF):c.366C>T (p.His122=) rs140663277 0.00201
NM_002439.5(MSH3):c.1469C>A (p.Ser490Tyr) rs76249824 0.00201
NM_004525.3(LRP2):c.13685T>C (p.Val4562Ala) rs142245618 0.00201
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557 0.00201
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_000744.7(CHRNA4):c.1047G>A (p.Leu349=) rs75593857 0.00200
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00200
NM_001113378.2(FANCI):c.3592-8T>C rs185599057 0.00200
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621 0.00200
NM_001365999.1(SZT2):c.6380A>T (p.Tyr2127Phe) rs149812437 0.00200
NM_001754.5(RUNX1):c.303G>T (p.Val101=) rs142472642 0.00200
NM_001903.5(CTNNA1):c.589-5T>C rs186236339 0.00200
NM_003072.5(SMARCA4):c.4768+10G>A rs201665695 0.00200
NM_003664.5(AP3B1):c.1857T>G (p.Leu619=) rs115892142 0.00200
NM_004840.3(ARHGEF6):c.169T>C (p.Cys57Arg) rs147131853 0.00200
NM_020461.4(TUBGCP6):c.89G>A (p.Arg30Gln) rs148626062 0.00200
NM_001042413.2(GLIS3):c.893C>A (p.Ser298Tyr) rs148572278 0.00199
NM_000064.4(C3):c.2203C>T (p.Arg735Trp) rs117793540 0.00198
NM_000168.6(GLI3):c.840C>G (p.Ser280=) rs77084911 0.00198
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val) rs115080759 0.00198
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn) rs114314967 0.00198
NM_006231.4(POLE):c.2106G>T (p.Gly702=) rs5744801 0.00198
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856 0.00198
NM_024101.7(MLPH):c.1710G>A (p.Val570=) rs41270745 0.00198
NM_004153.4(ORC1):c.403-7A>C rs199834691 0.00197
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_017721.5(CC2D1A):c.1449C>G (p.Pro483=) rs201221633 0.00197
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_181303.2(NLGN3):c.1954A>G (p.Thr652Ala) rs144914894 0.00197
NM_001330677.2(TBX15):c.837A>G (p.Thr279=) rs140670116 0.00196
NM_003619.4(PRSS12):c.323C>G (p.Pro108Arg) rs199996930 0.00196
NM_005373.3(MPL):c.1654-10T>A rs200460456 0.00196
NM_006015.6(ARID1A):c.318C>T (p.Asn106=) rs551186176 0.00196
NM_015175.3(NBEAL2):c.1038C>T (p.Tyr346=) rs201015016 0.00196
NM_022455.5(NSD1):c.2295C>T (p.Asn765=) rs146767413 0.00196
NM_201525.4(ADGRG1):c.1017+8G>A rs186479054 0.00196
NM_206937.2(LIG4):c.686A>G (p.His229Arg) rs142957638 0.00196
NM_000059.4(BRCA2):c.6937+565T>C rs11571675 0.00195
NM_000376.3(VDR):c.909C>T (p.Ala303=) rs12721365 0.00195
NM_001194998.2(CEP152):c.2262G>A (p.Glu754=) rs149176738 0.00195
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_001614.5(ACTG1):c.684C>T (p.Ala228=) rs143125497 0.00195
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp) rs139134727 0.00195
NM_003482.4(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011 0.00195
NM_003482.4(KMT2D):c.5220C>T (p.Ala1740=) rs200369026 0.00195
NM_005327.7(HADH):c.456G>T (p.Gln152His) rs1051519 0.00195
NM_006031.6(PCNT):c.9700+10C>T rs199917135 0.00195
NM_014008.5(CCDC22):c.715G>A (p.Glu239Lys) rs199809018 0.00195
NM_030928.4(CDT1):c.1631A>T (p.Glu544Val) rs144843732 0.00195
NM_130468.4(CHST14):c.288G>A (p.Arg96=) rs371684007 0.00195
NM_153717.3(EVC):c.8G>C (p.Arg3Pro) rs756852655 0.00195
NM_000044.6(AR):c.1139C>G (p.Pro380Arg) rs200510049 0.00194
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373 0.00194
NM_001048166.1(STIL):c.1069G>A (p.Ala357Thr) rs75426387 0.00194
NM_001102401.4(TTI2):c.1115+7C>G rs199720231 0.00194
NM_001244008.2(KIF1A):c.5043G>A (p.Gly1681=) rs143815273 0.00194
NM_001364905.1(LRBA):c.*9G>T rs150102345 0.00194
NM_002335.4(LRP5):c.1968C>T (p.His656=) rs144847027 0.00194
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608 0.00194
NM_024649.5(BBS1):c.1719A>G (p.Gln573=) rs150553044 0.00194
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=) rs75091137 0.00194
NM_152564.5(VPS13B):c.11619G>C (p.Val3873=) rs113454700 0.00194
NM_199242.3(UNC13D):c.847A>G (p.Ile283Val) rs61754871 0.00194
NM_000168.6(GLI3):c.280C>T (p.Leu94=) rs115137047 0.00193
NM_001012339.3(DNAJC21):c.316-8T>G rs182094106 0.00193
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214 0.00193
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln) rs72648969 0.00193
NM_001377.3(DYNC2H1):c.7128A>G (p.Ala2376=) rs371410128 0.00193
NM_003611.3(OFD1):c.12+28G>C rs181620366 0.00193
NM_024675.4(PALB2):c.1606C>T (p.Leu536=) rs151162255 0.00193
NM_024675.4(PALB2):c.2256A>G (p.Gly752=) rs147120218 0.00193
NM_024757.5(EHMT1):c.480C>T (p.Gly160=) rs150135875 0.00193
NM_207346.3(TSEN54):c.1167G>C (p.Gln389His) rs369805010 0.00193
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850 0.00192
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522 0.00192
NM_001254.4(CDC6):c.712A>G (p.Thr238Ala) rs4135010 0.00192
NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg) rs150319104 0.00192
NM_001543.5(NDST1):c.2589G>A (p.Leu863=) rs148765445 0.00192
NM_004329.3(BMPR1A):c.777G>A (p.Ala259=) rs56108371 0.00192
NM_005475.3(SH2B3):c.770T>C (p.Ile257Thr) rs147341899 0.00192
NM_014915.3(ANKRD26):c.40G>A (p.Gly14Ser) rs201068693 0.00192
NM_032119.4(ADGRV1):c.12527+6G>T rs141701016 0.00192
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=) rs113380721 0.00191
NM_001374828.1(ARID1B):c.2286G>A (p.Thr762=) rs6912981 0.00191
NM_005670.4(EPM2A):c.719-4G>A rs145030227 0.00191
NM_014159.7(SETD2):c.4320A>T (p.Pro1440=) rs74485823 0.00191
NM_001040142.2(SCN2A):c.5910G>A (p.Thr1970=) rs75057869 0.00190
NM_001042492.3(NF1):c.2553C>T (p.Cys851=) rs2230852 0.00190
NM_005045.4(RELN):c.8120-9T>C rs74952625 0.00190
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378 0.00190
NM_017755.6(NSUN2):c.537+8A>G rs149276590 0.00190
NM_021784.5(FOXA2):c.890C>T (p.Ala297Val) rs200459003 0.00190
NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly) rs145164937 0.00190
NM_022455.5(NSD1):c.1149C>T (p.Ile383=) rs34921128 0.00190
NM_022786.3(ARV1):c.64A>T (p.Thr22Ser) rs143532693 0.00190
NM_144628.4(TBC1D20):c.1005G>A (p.Gln335=) rs35306023 0.00190
NM_000096.4(CP):c.2571C>T (p.Tyr857=) rs151304828 0.00189
NM_000381.4(MID1):c.588C>G (p.Ala196=) rs41303167 0.00189
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu) rs2230850 0.00189
NM_001110792.2(MECP2):c.618C>T (p.Ser206=) rs61749711 0.00189
NM_001360.3(DHCR7):c.321+10C>T rs377108406 0.00189
NM_001374828.1(ARID1B):c.3681C>T (p.Tyr1227=) rs61736269 0.00189
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_001384732.1(CPLANE1):c.765A>C (p.Gly255=) rs117995360 0.00189
NM_006059.4(LAMC3):c.4130C>T (p.Thr1377Ile) rs144662546 0.00189
NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val) rs140899003 0.00189
NM_000249.4(MLH1):c.790+10A>G rs182733777 0.00188
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) rs142317580 0.00188
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_002691.4(POLD1):c.378C>T (p.Arg126=) rs145324823 0.00188
NM_003052.5(SLC34A1):c.284G>A (p.Arg95His) rs145798898 0.00188
NM_005188.4(CBL):c.1359A>C (p.Pro453=) rs34732429 0.00188
NM_014915.3(ANKRD26):c.1133A>G (p.Glu378Gly) rs186243874 0.00188
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751 0.00188
NM_024426.6(WT1):c.123G>C (p.Pro41=) rs555140661 0.00188
NM_024809.5(TCTN2):c.654C>T (p.Leu218=) rs138897437 0.00188
NM_144628.4(TBC1D20):c.256+10G>A rs188223876 0.00188
NM_152384.3(BBS5):c.750C>T (p.Ile250=) rs76138485 0.00188
NM_000525.4(KCNJ11):c.1095C>T (p.Arg365=) rs143276279 0.00187
NM_001080467.3(MYO5B):c.2343G>C (p.Lys781Asn) rs61737448 0.00187
NM_002473.6(MYH9):c.165C>T (p.Ile55=) rs141948797 0.00187
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly) rs143954823 0.00187
NM_006734.4(HIVEP2):c.258G>A (p.Pro86=) rs188298782 0.00187
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_000096.4(CP):c.2793A>G (p.Leu931=) rs34987997 0.00186
NM_006031.6(PCNT):c.7281C>T (p.Asp2427=) rs138588682 0.00186
NM_015275.3(WASHC4):c.432A>G (p.Leu144=) rs185918254 0.00186
NM_020207.7(ERCC6L2):c.1140G>C (p.Leu380Phe) rs150328847 0.00186
NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu) rs185149177 0.00186
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015 0.00186
NM_203395.3(IYD):c.604G>A (p.Ala202Thr) rs146905706 0.00186
NM_002519.3(NPAT):c.2418T>G (p.Asp806Glu) rs200575398 0.00185
NM_004830.4(MED23):c.2814G>A (p.Ala938=) rs145230681 0.00185
NM_005045.4(RELN):c.1377G>A (p.Arg459=) rs73712207 0.00185
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_173630.4(RTTN):c.5883G>A (p.Leu1961=) rs35313369 0.00185
NM_000236.3(LIPC):c.89-4G>A rs184587533 0.00184
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys) rs193056942 0.00184
NM_003611.3(OFD1):c.1654+8A>G rs200767363 0.00184
NM_000064.4(C3):c.3216G>T (p.Arg1072=) rs137880434 0.00183
NM_000208.4(INSR):c.1080C>T (p.Cys360=) rs56066516 0.00183
NM_001083961.2(WDR62):c.4338C>T (p.Thr1446=) rs149289227 0.00183
NM_001122630.2(CDKN1C):c.675G>A (p.Glu225=) rs3741341 0.00183
NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=) rs146747080 0.00183
NM_001382391.1(CSPP1):c.965A>G (p.His322Arg) rs141389465 0.00183
NM_006279.5(ST3GAL3):c.618C>T (p.Arg206=) rs115003742 0.00183
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=) rs142611198 0.00183
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=) rs80356851 0.00183
NM_014008.5(CCDC22):c.1070C>G (p.Thr357Ser) rs144685788 0.00183
NM_024757.5(EHMT1):c.3016G>A (p.Val1006Met) rs33999936 0.00183
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_001710.6(CFB):c.978A>C (p.Glu326Asp) rs140166479 0.00182
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val) rs142025324 0.00182
NM_006031.6(PCNT):c.5614G>A (p.Glu1872Lys) rs112853262 0.00182
NM_024876.4(COQ8B):c.1036-3C>G rs200061712 0.00182
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn) rs184740744 0.00181
NM_001370259.2(MEN1):c.597C>T (p.His199=) rs150512958 0.00181
NM_016343.4(CENPF):c.3617A>G (p.Tyr1206Cys) rs144237457 0.00181
NM_025009.5(CEP135):c.636A>C (p.Glu212Asp) rs76941356 0.00181
NM_173495.3(PTCHD1):c.657C>T (p.Asn219=) rs144982584 0.00181
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196 0.00180
NM_001278116.2(L1CAM):c.36C>A (p.Leu12=) rs140678848 0.00180
NM_006662.3(SRCAP):c.132C>T (p.Gly44=) rs149628651 0.00180
NM_017721.5(CC2D1A):c.314C>T (p.Ala105Val) rs192358667 0.00180
NM_020738.4(KIDINS220):c.3586-7T>C rs139887022 0.00180
NM_177438.3(DICER1):c.1825G>T (p.Asp609Tyr) rs114947750 0.00180
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163 0.00179
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661 0.00179
NM_001018115.3(FANCD2):c.4281+115C>A rs78896323 0.00179
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr) rs145007501 0.00179
NM_014994.3(MAPKBP1):c.3339C>T (p.Ser1113=) rs146351506 0.00179
NM_024301.5(FKRP):c.1179A>G (p.Val393=) rs145894568 0.00179
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=) rs143944746 0.00178
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_001378778.1(MPDZ):c.511C>G (p.Gln171Glu) rs181479224 0.00178
NM_001999.4(FBN2):c.6551A>T (p.Asn2184Ile) rs149071226 0.00178
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_020699.4(GATAD2B):c.1229C>G (p.Ala410Gly) rs114542403 0.00178
NM_020937.4(FANCM):c.5808C>T (p.Ser1936=) rs142333130 0.00178
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_020987.5(ANK3):c.9997A>T (p.Thr3333Ser) rs140183285 0.00178
NM_032119.4(ADGRV1):c.14515C>G (p.Gln4839Glu) rs79464236 0.00178
NM_138425.4(C12orf57):c.-3C>T rs113296395 0.00178
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_175875.5(SIX5):c.2173C>T (p.Leu725=) rs112320524 0.00178
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) rs149146258 0.00178
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_001184.4(ATR):c.2844A>C (p.Ala948=) rs147286949 0.00177
NM_001376.5(DYNC1H1):c.306C>T (p.Asn102=) rs17540624 0.00177
NM_002894.3(RBBP8):c.1367A>G (p.His456Arg) rs139743319 0.00177
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=) rs61759495 0.00177
NM_018136.5(ASPM):c.5940C>T (p.Tyr1980=) rs150642468 0.00177
NM_020987.5(ANK3):c.10688A>G (p.Glu3563Gly) rs147527383 0.00177
NM_000222.3(KIT):c.2805T>A (p.Ile935=) rs72549296 0.00176
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387 0.00176
NM_000875.5(IGF1R):c.1532G>A (p.Arg511Gln) rs33958176 0.00176
NM_001083961.2(WDR62):c.3786C>T (p.Gly1262=) rs148415080 0.00176
NM_001614.5(ACTG1):c.985-5T>C rs370546734 0.00176
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=) rs34025424 0.00176
NM_013296.5(GPSM2):c.2043G>A (p.Ser681=) rs140949805 0.00176
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val) rs45521933 0.00176
NM_018013.4(SOBP):c.1321C>T (p.Pro441Ser) rs201319446 0.00176
NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu) rs138825640 0.00175
NM_000426.4(LAMA2):c.1621A>G (p.Ser541Gly) rs141363186 0.00175
NM_001101362.3(KBTBD13):c.188A>T (p.Gln63Leu) rs202004658 0.00175
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996 0.00175
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904 0.00175
NM_001244008.2(KIF1A):c.2958G>C (p.Val986=) rs186881889 0.00175
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720 0.00175
NM_001813.3(CENPE):c.6928A>G (p.Ile2310Val) rs111281600 0.00175
NM_002291.3(LAMB1):c.1590A>C (p.Ser530=) rs139481973 0.00175
NM_006059.4(LAMC3):c.1520-6G>A rs192031352 0.00175
NM_006734.4(HIVEP2):c.4654C>T (p.Pro1552Ser) rs181273304 0.00175
NM_001384732.1(CPLANE1):c.8568G>C (p.Val2856=) rs145215555 0.00174
NM_001626.6(AKT2):c.945G>A (p.Glu315=) rs150000674 0.00174
NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val) rs59190330 0.00174
NM_000352.6(ABCC8):c.945C>T (p.Ala315=) rs138521721 0.00173
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met) rs117422805 0.00173
NM_001126049.2(KLLN):c.339_340del (p.Ala115fs) rs749052307 0.00173
NM_001365999.1(SZT2):c.7245C>T (p.Ser2415=) rs142822908 0.00173
NM_018062.4(FANCL):c.963T>A (p.Asp321Glu) rs140088149 0.00173
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=) rs61754141 0.00173
NM_144508.5(KNL1):c.5271C>T (p.Cys1757=) rs191249840 0.00173
NM_152703.5(SAMD9L):c.2127T>C (p.Phe709=) rs7792360 0.00173
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00172
NM_001042413.2(GLIS3):c.1092G>T (p.Pro364=) rs74680081 0.00172
NM_004655.4(AXIN2):c.1070G>A (p.Arg357His) rs8081536 0.00172
NM_004991.4(MECOM):c.1707C>A (p.Pro569=) rs141081950 0.00172
NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr) rs139633601 0.00172
NM_020320.5(RARS2):c.155A>T (p.Lys52Ile) rs73496064 0.00172
NM_020717.5(SHROOM4):c.3611A>G (p.Glu1204Gly) rs148721221 0.00172
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) rs149109801 0.00172
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_000550.3(TYRP1):c.70G>A (p.Ala24Thr) rs61758405 0.00171
NM_002875.5(RAD51):c.449G>A (p.Arg150Gln) rs121917739 0.00171
NM_002878.4(RAD51D):c.481-7G>A rs145832514 0.00171
NM_004525.3(LRP2):c.12725A>G (p.Asp4242Gly) rs35942532 0.00171
NM_015450.3(POT1):c.751A>G (p.Met251Val) rs148397357 0.00171
NM_153252.5(BRWD3):c.769G>A (p.Val257Ile) rs112829587 0.00171
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644 0.00170
NM_001083961.2(WDR62):c.2016C>T (p.Asp672=) rs114968951 0.00170
NM_001364905.1(LRBA):c.2637G>A (p.Lys879=) rs138956153 0.00170
NM_003597.5(KLF11):c.782C>T (p.Pro261Leu) rs148123124 0.00170
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_018451.5(CENPJ):c.1021T>G (p.Tyr341Asp) rs143258862 0.00170
NM_080632.3(UPF3B):c.1121G>A (p.Arg374His) rs143538947 0.00170
NM_152564.5(VPS13B):c.10052A>T (p.Asn3351Ile) rs111353525 0.00170
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_000969.5(RPL5):c.325-11T>G rs145058455 0.00169
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00169
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698 0.00169
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_213599.3(ANO5):c.2698A>C (p.Met900Leu) rs148293985 0.00169
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723 0.00168
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_000369.5(TSHR):c.357T>A (p.Pro119=) rs144084915 0.00168
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918 0.00168
NM_006015.6(ARID1A):c.135C>T (p.Ala45=) rs892415319 0.00168
NM_014953.5(DIS3):c.1394A>G (p.Lys465Arg) rs41286058 0.00168
NM_020779.4(WDR35):c.2066G>A (p.Arg689His) rs74470618 0.00168
NM_001384732.1(CPLANE1):c.8790C>T (p.Ser2930=) rs148005445 0.00167
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr) rs80116829 0.00167
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=) rs116076060 0.00167
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=) rs61746542 0.00167
NM_024685.4(BBS10):c.1669A>G (p.Ile557Val) rs139719799 0.00167
NM_030928.4(CDT1):c.900G>C (p.Gln300His) rs143149360 0.00167
NM_000051.4(ATM):c.609C>T (p.Asp203=) rs144709948 0.00166
NM_000135.4(FANCA):c.3584G>A (p.Arg1195Gln) rs138013482 0.00166
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546 0.00166
NM_001145306.2(CDK6):c.328G>A (p.Asp110Asn) rs35654944 0.00166
NM_001379110.1(SLC9A6):c.1637G>A (p.Arg546Gln) rs146263125 0.00166
NM_001379286.1(ZNF423):c.87C>T (p.Ser29=) rs116537749 0.00166
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_004304.5(ALK):c.3594C>T (p.Leu1198=) rs56071005 0.00166
NM_004656.4(BAP1):c.1268C>A (p.Thr423Lys) rs115109161 0.00166
NM_005188.4(CBL):c.2484G>A (p.Pro828=) rs149533467 0.00166
NM_015175.3(NBEAL2):c.7658G>A (p.Gly2553Glu) rs144664865 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_000214.3(JAG1):c.2301G>A (p.Thr767=) rs147634857 0.00165
NM_000426.4(LAMA2):c.1308T>G (p.Gly436=) rs41285286 0.00165
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00165
NM_001042413.2(GLIS3):c.954C>T (p.Thr318=) rs75564360 0.00165
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=) rs34718443 0.00165
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012 0.00165
NM_016343.4(CENPF):c.1447-4T>C rs151249612 0.00165
NM_018993.4(RIN2):c.1427C>G (p.Pro476Arg) rs35142632 0.00165
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803 0.00164
NM_001276270.2(MBD4):c.1382A>G (p.Asn461Ser) rs78782061 0.00164
NM_004525.3(LRP2):c.4351G>T (p.Val1451Phe) rs146289506 0.00164
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623 0.00163
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879 0.00163
NM_000135.4(FANCA):c.1471-12A>G rs9282684 0.00163
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092 0.00163
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_001144967.3(NEDD4L):c.2613C>T (p.Asn871=) rs141136641 0.00163
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869 0.00163
NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala) rs141417436 0.00163
NM_001348800.3(ZBTB20):c.2078C>T (p.Ala693Val) rs150974347 0.00163
NM_001848.3(COL6A1):c.2517C>T (p.Ser839=) rs141463437 0.00163
NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=) rs56101423 0.00163
NM_003597.5(KLF11):c.541G>A (p.Glu181Lys) rs146238335 0.00163
NM_006346.4(PIBF1):c.151A>G (p.Ile51Val) rs115330455 0.00163
NM_012156.2(EPB41L1):c.726C>T (p.Phe242=) rs142551778 0.00163
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_001143992.2(WRAP53):c.1566G>A (p.Ala522=) rs148329158 0.00162
NM_001194998.2(CEP152):c.3313C>G (p.Leu1105Val) rs74553953 0.00162
NM_001378454.1(ALMS1):c.11601C>T (p.Phe3867=) rs80009262 0.00162
NM_020738.4(KIDINS220):c.3459C>T (p.Gly1153=) rs199913532 0.00162
NM_144508.5(KNL1):c.4379T>C (p.Ile1460Thr) rs187007187 0.00162
NM_001083961.2(WDR62):c.253G>A (p.Val85Met) rs146274964 0.00161
NM_020937.4(FANCM):c.171G>C (p.Leu57Phe) rs142007602 0.00161
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His) rs76726265 0.00161
NM_000377.3(WAS):c.1276G>T (p.Ala426Ser) rs201085962 0.00160
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=) rs184389316 0.00160
NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met) rs183359489 0.00160
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_005357.4(LIPE):c.280G>A (p.Ala94Thr) rs145456377 0.00160
NM_006005.3(WFS1):c.1277G>A (p.Cys426Tyr) rs35218685 0.00160
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn) rs139555085 0.00160
NM_000251.3(MSH2):c.1277-8T>C rs145400590 0.00159
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_001377304.1(GFI1B):c.624G>A (p.Glu208=) rs140900853 0.00159
NM_001378615.1(CC2D2A):c.2050T>A (p.Leu684Ile) rs190698163 0.00159
NM_002691.4(POLD1):c.80A>T (p.Asp27Val) rs150066950 0.00159
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602 0.00159
NM_004260.4(RECQL4):c.615C>G (p.Pro205=) rs35639991 0.00159
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636 0.00159
NM_004431.5(EPHA2):c.2904G>C (p.Gln968His) rs138818894 0.00159
NM_017755.6(NSUN2):c.222C>T (p.Leu74=) rs138716662 0.00159
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg) rs141521925 0.00159
NM_032737.4(LMNB2):c.804C>T (p.Asp268=) rs150969746 0.00159
NM_173689.7(CRB2):c.3128C>T (p.Ser1043Phe) rs35578485 0.00159
NM_000032.5(ALAS2):c.1676G>A (p.Arg559His) rs145704441 0.00158
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_000497.4(CYP11B1):c.1014G>A (p.Gln338=) rs151335623 0.00158
NM_000760.4(CSF3R):c.1748G>A (p.Arg583His) rs148104401 0.00158
NM_007118.4(TRIO):c.6914G>A (p.Gly2305Asp) rs552613615 0.00158
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_025009.5(CEP135):c.2767G>A (p.Glu923Lys) rs145959811 0.00158
NM_170707.4(LMNA):c.1851C>T (p.Ala617=) rs143189394 0.00158
NM_000439.5(PCSK1):c.1918A>G (p.Thr640Ala) rs139453594 0.00157
NM_001379110.1(SLC9A6):c.*8A>T rs200171451 0.00157
NM_003000.3(SDHB):c.300T>C (p.Ser100=) rs11541235 0.00157
NM_004655.4(AXIN2):c.2439C>T (p.Ala813=) rs149533605 0.00157
NM_006031.6(PCNT):c.6080A>G (p.Gln2027Arg) rs147189224 0.00157
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NM_030928.4(CDT1):c.1546C>T (p.Arg516Cys) rs144721725 0.00157
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_000553.6(WRN):c.355+4G>C rs145764920 0.00156
NM_001110556.2(FLNA):c.1429+8C>T rs202181557 0.00156
NM_001282225.2(ADA2):c.927G>A (p.Met309Ile) rs146597836 0.00156
NM_001377.3(DYNC2H1):c.12366+8A>G rs200404815 0.00156
NM_001813.3(CENPE):c.7602C>T (p.Ser2534=) rs148582447 0.00156
NM_002335.4(LRP5):c.2295G>A (p.Ser765=) rs140955013 0.00156
NM_002470.4(MYH3):c.252G>A (p.Lys84=) rs147410236 0.00156
NM_006517.5(SLC16A2):c.949C>T (p.Arg317Cys) rs144755294 0.00156
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_017721.5(CC2D1A):c.1424C>T (p.Ser475Leu) rs143529486 0.00156
NM_017780.4(CHD7):c.2067G>A (p.Thr689=) rs34979623 0.00156
NM_000368.5(TSC1):c.1701G>A (p.Ala567=) rs35478675 0.00155
NM_000540.3(RYR1):c.2622G>A (p.Ala874=) rs149381996 0.00155
NM_000552.5(VWF):c.1728G>T (p.Met576Ile) rs150146744 0.00155
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=) rs145762491 0.00155
NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=) rs201941844 0.00155
NM_002241.5(KCNJ10):c.735C>G (p.Asp245Glu) rs146426296 0.00155
NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr) rs1805378 0.00155
NM_017654.4(SAMD9):c.4102G>A (p.Glu1368Lys) rs138600971 0.00155
NM_018036.7(ATG2B):c.653A>G (p.His218Arg) rs199569218 0.00155
NM_018136.5(ASPM):c.1385A>G (p.Tyr462Cys) rs143294539 0.00155
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr) rs138138436 0.00155
NM_025009.5(CEP135):c.1740A>G (p.Arg580=) rs59759676 0.00155
NM_000136.3(FANCC):c.840G>A (p.Ser280=) rs34671520 0.00154
NM_001003787.4(STRADA):c.135G>A (p.Ala45=) rs56163554 0.00154
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=) rs139799727 0.00154
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817 0.00154
NM_001904.4(CTNNB1):c.1023C>T (p.Ser341=) rs34343353 0.00154
NM_005045.4(RELN):c.77C>T (p.Ala26Val) rs144557847 0.00154
NM_020461.4(TUBGCP6):c.3651T>C (p.His1217=) rs148914897 0.00154
NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val) rs139640224 0.00154
NM_000022.4(ADA):c.402C>T (p.Gly134=) rs146921882 0.00153
NM_000338.3(SLC12A1):c.2481G>A (p.Val827=) rs145469327 0.00153
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln) rs144051476 0.00153
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438 0.00153
NM_001903.5(CTNNA1):c.536C>T (p.Ala179Val) rs28363394 0.00153
NM_004006.3(DMD):c.8571T>C (p.Thr2857=) rs72466570 0.00153
NM_012301.4(MAGI2):c.2213G>A (p.Arg738Gln) rs145722885 0.00153
NM_015650.4(TRAF3IP1):c.165C>T (p.Asp55=) rs138861670 0.00153
NM_016495.6(TBC1D7):c.678A>G (p.Lys226=) rs17768021 0.00153
NM_020461.4(TUBGCP6):c.3490G>A (p.Val1164Met) rs9628306 0.00153
NM_020461.4(TUBGCP6):c.4223C>T (p.Ala1408Val) rs142798996 0.00153
NM_020632.3(ATP6V0A4):c.2326G>A (p.Val776Ile) rs142313541 0.00153
NM_023110.3(FGFR1):c.336C>T (p.Thr112=) rs148480919 0.00153
NM_032043.3(BRIP1):c.2061G>C (p.Val687=) rs112414873 0.00153
NM_138386.3(NAF1):c.1478A>C (p.Tyr493Ser) rs143001503 0.00153
NM_000377.3(WAS):c.1378C>T (p.Pro460Ser) rs143885622 0.00152
NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=) rs145304925 0.00152
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys) rs145709687 0.00152
NM_002691.4(POLD1):c.971-4G>A rs200144991 0.00152
NM_003070.5(SMARCA2):c.513C>A (p.Pro171=) rs148002538 0.00152
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282 0.00152
NM_020987.5(ANK3):c.4465C>T (p.Pro1489Ser) rs41274676 0.00152
NM_032415.7(CARD11):c.3019+9C>T rs200741645 0.00152
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_001059.3(TACR3):c.1246A>T (p.Asn416Tyr) rs143073792 0.00151
NM_001160372.4(TRAPPC9):c.1407C>T (p.Tyr469=) rs117632905 0.00151
NM_001160372.4(TRAPPC9):c.3012C>T (p.Asn1004=) rs148805943 0.00151
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774 0.00151
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp) rs35155575 0.00151
NM_001378454.1(ALMS1):c.10079-11C>T rs368250605 0.00151
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala) rs148453565 0.00151
NM_015175.3(NBEAL2):c.1634C>T (p.Ser545Leu) rs201749187 0.00151
NM_015275.3(WASHC4):c.2465A>G (p.His822Arg) rs187432521 0.00151
NM_020717.5(SHROOM4):c.1879C>T (p.Pro627Ser) rs150861758 0.00151
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966 0.00150
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_001551.3(IGBP1):c.317G>A (p.Arg106Gln) rs143163513 0.00150
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=) rs147448807 0.00150
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747 0.00150
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) rs138886791 0.00150
NM_018249.6(CDK5RAP2):c.2568G>A (p.Gln856=) rs144723485 0.00150
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) rs140679502 0.00150
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00149
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=) rs2229919 0.00149
NM_001372044.2(SHANK3):c.1190+7C>T rs186106384 0.00149
NM_001904.4(CTNNB1):c.1272T>C (p.Leu424=) rs4135379 0.00149
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg) rs143796569 0.00149
NM_006231.4(POLE):c.5124C>T (p.Phe1708=) rs114891564 0.00149
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro) rs138443479 0.00148
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847 0.00148
NM_001083961.2(WDR62):c.3033G>A (p.Pro1011=) rs118175551 0.00148
NM_007137.5(ZNF81):c.417A>G (p.Ile139Met) rs189835360 0.00148
NM_016219.5(MAN1B1):c.1980C>T (p.Phe660=) rs140496149 0.00148
NM_016222.4(DDX41):c.1233G>A (p.Glu411=) rs147023941 0.00148
NM_018451.5(CENPJ):c.646T>C (p.Cys216Arg) rs143260721 0.00148
NM_001134831.2(AHI1):c.72T>C (p.Ser24=) rs73777558 0.00147
NM_001160372.4(TRAPPC9):c.3421G>A (p.Val1141Met) rs140157207 0.00147
NM_002291.3(LAMB1):c.1945G>A (p.Asp649Asn) rs142386151 0.00147
NM_006361.6(HOXB13):c.735G>A (p.Lys245=) rs138675188 0.00147
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=) rs4986844 0.00147
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn) rs147588666 0.00147
NM_019066.5(MAGEL2):c.853G>A (p.Gly285Arg) rs143908070 0.00147
NM_020937.4(FANCM):c.1041G>A (p.Pro347=) rs140998495 0.00147
NM_024876.4(COQ8B):c.344T>C (p.Met115Thr) rs148374624 0.00147
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978 0.00147
NM_000038.6(APC):c.8068G>A (p.Ala2690Thr) rs140868933 0.00146
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_002582.4(PARN):c.1741G>A (p.Gly581Arg) rs75007073 0.00146
NM_003383.5(VLDLR):c.1162C>T (p.Leu388=) rs114172780 0.00146
NM_004840.3(ARHGEF6):c.685G>A (p.Val229Ile) rs75329154 0.00146
NM_005732.4(RAD50):c.379G>A (p.Val127Ile) rs28903086 0.00146
NM_024757.5(EHMT1):c.148G>A (p.Ala50Thr) rs78104547 0.00146
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu) rs146588336 0.00145
NM_001184.4(ATR):c.4576A>G (p.Ile1526Val) rs34124242 0.00145
NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val) rs145639192 0.00145
NM_001330078.2(NRXN1):c.501C>G (p.Leu167=) rs200248561 0.00145
NM_001543.5(NDST1):c.239G>A (p.Arg80His) rs145390254 0.00145
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_004168.4(SDHA):c.136A>G (p.Lys46Glu) rs144599870 0.00145
NM_004360.5(CDH1):c.2440-6C>G rs139757930 0.00145
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649 0.00145
NM_014264.5(PLK4):c.17G>A (p.Gly6Glu) rs149003893 0.00145
NM_018249.6(CDK5RAP2):c.2826A>T (p.Ile942=) rs142596662 0.00145
NM_018341.3(ERMARD):c.1246G>A (p.Val416Ile) rs143351214 0.00145
NM_022436.3(ABCG5):c.696C>T (p.Val232=) rs72796720 0.00145
NM_022436.3(ABCG5):c.957C>T (p.Ser319=) rs146131711 0.00145
NM_022455.5(NSD1):c.760C>T (p.Leu254Phe) rs149334244 0.00145
NM_152703.5(SAMD9L):c.4170G>A (p.Leu1390=) rs143928644 0.00145
NM_181741.4(ORC4):c.1090G>A (p.Val364Ile) rs138876526 0.00145
NM_000156.6(GAMT):c.392-7C>T rs192416474 0.00144
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile) rs139061260 0.00144
NM_017780.4(CHD7):c.1419G>C (p.Gly473=) rs186394299 0.00144
NM_030962.4(SBF2):c.2337C>T (p.Ser779=) rs140730386 0.00144
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=) rs138661755 0.00144
NM_152564.5(VPS13B):c.3116T>C (p.Met1039Thr) rs140015545 0.00144
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993 0.00143
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365 0.00143
NM_001128840.3(CACNA1D):c.6437G>A (p.Arg2146Lys) rs150838215 0.00143
NM_003079.5(SMARCE1):c.1079G>A (p.Gly360Asp) rs142193069 0.00143
NM_004360.5(CDH1):c.1272C>T (p.Val424=) rs61756284 0.00143
NM_004380.3(CREBBP):c.4133+19T>C rs202204380 0.00143
NM_012301.4(MAGI2):c.219C>T (p.Pro73=) rs148240352 0.00143
NM_024675.4(PALB2):c.2742C>T (p.Phe914=) rs115759702 0.00143
NM_173560.4(RFX6):c.1733G>C (p.Arg578Pro) rs146115506 0.00143
NM_181741.4(ORC4):c.353T>C (p.Leu118Ser) rs61750441 0.00143
NM_198859.4(PRICKLE2):c.788-6T>C rs180903875 0.00143
NM_000064.4(C3):c.2901C>T (p.Leu967=) rs34029609 0.00142
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp) rs149202766 0.00142
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593 0.00142
NM_002691.4(POLD1):c.2967G>A (p.Thr989=) rs3218752 0.00142
NM_031407.7(HUWE1):c.5091A>G (p.Gly1697=) rs149893977 0.00142
NM_000059.4(BRCA2):c.9634G>C (p.Gly3212Arg) rs55775473 0.00141
NM_000336.3(SCNN1B):c.147A>G (p.Lys49=) rs80027401 0.00141
NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=) rs77144869 0.00141
NM_003383.5(VLDLR):c.902G>A (p.Arg301Gln) rs139671268 0.00141
NM_005732.4(RAD50):c.943G>T (p.Val315Leu) rs28903090 0.00141
NM_014915.3(ANKRD26):c.3007G>A (p.Glu1003Lys) rs41304587 0.00141
NM_017721.5(CC2D1A):c.2372G>A (p.Arg791Gln) rs200354654 0.00141
NM_144508.5(KNL1):c.4170T>A (p.Asp1390Glu) rs141726041 0.00141
NM_152703.5(SAMD9L):c.1696G>A (p.Ala566Thr) rs143593856 0.00141
NM_207361.6(FREM2):c.5642-9T>C rs148794835 0.00141
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229 0.00140
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042 0.00140
NM_000540.3(RYR1):c.11141+7A>G rs78350770 0.00140
NM_000540.3(RYR1):c.2919C>T (p.His973=) rs139363830 0.00140
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642 0.00140
NM_001349338.3(FOXP1):c.1709A>G (p.Asn570Ser) rs140161845 0.00140
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val) rs200466720 0.00140
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys) rs114684479 0.00140
NM_018451.5(CENPJ):c.656C>T (p.Pro219Leu) rs139844197 0.00140
NM_019066.5(MAGEL2):c.3657G>A (p.Ala1219=) rs140288382 0.00140
NM_020822.3(KCNT1):c.3390G>A (p.Ala1130=) rs77912754 0.00140
NM_133642.5(LARGE1):c.1008T>C (p.Asp336=) rs115076367 0.00140
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128 0.00138
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687 0.00138
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_001010898.4(SLC6A17):c.525G>A (p.Pro175=) rs142901935 0.00138
NM_001083961.2(WDR62):c.1359C>T (p.Asn453=) rs148667984 0.00138
NM_001429.4(EP300):c.1878+9C>G rs186198699 0.00138
NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln) rs34932223 0.00138
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe) rs35984312 0.00138
NM_006642.5(SDCCAG8):c.1501G>C (p.Asp501His) rs150646039 0.00138
NM_014915.3(ANKRD26):c.4259G>A (p.Cys1420Tyr) rs146159734 0.00138
NM_020975.6(RET):c.654G>A (p.Pro218=) rs137928436 0.00138
NM_021252.5(RAB18):c.264T>C (p.Tyr88=) rs146846414 0.00138
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn) rs184143186 0.00138
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00137
NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys) rs140823801 0.00137
NM_001083961.2(WDR62):c.2666T>C (p.Met889Thr) rs139749569 0.00137
NM_005188.4(CBL):c.2190G>C (p.Thr730=) rs143840974 0.00137
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285 0.00137
NM_020831.6(MRTFA):c.3054C>T (p.Leu1018=) rs148865274 0.00137
NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=) rs199802825 0.00136
NM_001160372.4(TRAPPC9):c.1164C>T (p.Tyr388=) rs148976893 0.00136
NM_001458.5(FLNC):c.2501C>T (p.Thr834Met) rs75133741 0.00136
NM_005886.3(KATNB1):c.1678C>T (p.Leu560=) rs113265906 0.00136
NM_014915.3(ANKRD26):c.2170A>C (p.Ser724Arg) rs141748831 0.00136
NM_025099.6(CTC1):c.2478A>G (p.Thr826=) rs200643329 0.00136
NM_203447.4(DOCK8):c.452G>A (p.Arg151Gln) rs149918318 0.00136
NM_000760.4(CSF3R):c.1919C>T (p.Thr640Ile) rs121918426 0.00135
NM_001082486.2(ACD):c.80G>A (p.Arg27Gln) rs142507451 0.00135
NM_001330078.2(NRXN1):c.222C>T (p.Gly74=) rs201592993 0.00135
NM_001429.4(EP300):c.5061+10G>A rs78432056 0.00135
NM_002354.3(EPCAM):c.831A>G (p.Ile277Met) rs115283528 0.00135
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) rs148262378 0.00135
NM_002691.4(POLD1):c.2007-4G>A rs202035484 0.00135
NM_002732.4(PRKACG):c.239T>C (p.Val80Ala) rs148063597 0.00135
NM_003235.5(TG):c.1567T>C (p.Ser523Pro) rs116062097 0.00135
NM_005445.4(SMC3):c.2934G>A (p.Lys978=) rs147463420 0.00135
NM_138711.6(PPARG):c.913G>C (p.Val305Leu) rs139894525 0.00135
NM_000179.3(MSH6):c.3647-6T>A rs182871847 0.00134
NM_000208.4(INSR):c.2736G>A (p.Arg912=) rs147125937 0.00134
NM_001365999.1(SZT2):c.7395T>C (p.Ile2465=) rs78858677 0.00134
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly) rs186504463 0.00134
NM_020461.4(TUBGCP6):c.2991C>T (p.Ser997=) rs143388326 0.00134
NM_024596.5(MCPH1):c.1716C>T (p.Asn572=) rs141218500 0.00134
NM_212550.5(BLOC1S3):c.491G>A (p.Arg164His) rs200567085 0.00134
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg) rs148978269 0.00133
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576 0.00133
NM_001543.5(NDST1):c.1458C>T (p.Cys486=) rs148231731 0.00133
NM_004525.3(LRP2):c.3110G>A (p.Arg1037Lys) rs147058423 0.00133
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628 0.00133
NM_007254.4(PNKP):c.1491C>T (p.Ala497=) rs116192442 0.00133
NM_014467.3(SRPX2):c.1373G>A (p.Arg458Gln) rs146051561 0.00133
NM_015175.3(NBEAL2):c.3338C>T (p.Thr1113Met) rs202071400 0.00133
NM_017668.3(NDE1):c.723G>T (p.Gly241=) rs570994490 0.00133
NM_022455.5(NSD1):c.2835T>C (p.Ser945=) rs145987330 0.00133
NM_024824.5(ZC3H14):c.744T>C (p.Asp248=) rs144601125 0.00133
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_032119.4(ADGRV1):c.3303A>G (p.Val1101=) rs80069610 0.00133
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_000276.4(OCRL):c.39+10G>A rs765141317 0.00132
NM_005445.4(SMC3):c.2329T>C (p.Leu777=) rs76625999 0.00132
NM_000212.3(ITGB3):c.1959C>T (p.Asp653=) rs112717328 0.00131
NM_000525.4(KCNJ11):c.584G>A (p.Arg195His) rs5217 0.00131
NM_001130969.3(NSMF):c.71+9G>A rs587781103 0.00131
NM_001366110.1(PAX4):c.636C>T (p.Asp212=) rs141407429 0.00131
NM_002878.4(RAD51D):c.666A>G (p.Glu222=) rs114012742 0.00131
NM_006015.6(ARID1A):c.5779G>C (p.Ala1927Pro) rs143257313 0.00131
NM_014159.7(SETD2):c.3567C>T (p.Thr1189=) rs140803915 0.00131
NM_014875.3(KIF14):c.1860A>G (p.Leu620=) rs150703642 0.00131
NM_018341.3(ERMARD):c.1480C>G (p.Arg494Gly) rs144908519 0.00131
NM_031407.7(HUWE1):c.3966G>A (p.Leu1322=) rs140959967 0.00131
NM_032444.4(SLX4):c.422G>T (p.Gly141Val) rs77306735 0.00131
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn) rs142272833 0.00130
NM_002439.5(MSH3):c.2740A>G (p.Ile914Val) rs148633216 0.00130
NM_004153.4(ORC1):c.1819A>G (p.Thr607Ala) rs139027440 0.00130
NM_006180.6(NTRK2):c.500C>A (p.Ser167Tyr) rs76950094 0.00130
NM_015175.3(NBEAL2):c.1948G>A (p.Gly650Arg) rs201373710 0.00130
NM_021008.4(DEAF1):c.231C>T (p.Asp77=) rs371538775 0.00130
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00129
NM_004260.4(RECQL4):c.716C>T (p.Ala239Val) rs146709578 0.00129
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_006306.4(SMC1A):c.1545+4A>C rs377270943 0.00129
NM_017654.4(SAMD9):c.4724G>A (p.Gly1575Glu) rs148724199 0.00129
NM_020831.6(MRTFA):c.1993G>A (p.Ala665Thr) rs72655385 0.00129
NM_145239.3(PRRT2):c.612C>G (p.Pro204=) rs149260055 0.00129
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp) rs72660870 0.00129
NM_000371.4(TTR):c.360C>T (p.Ser120=) rs150127220 0.00128
NM_001365536.1(SCN9A):c.3509T>C (p.Ile1170Thr) rs73019664 0.00128
NM_001377.3(DYNC2H1):c.3015A>G (p.Leu1005=) rs201310509 0.00128
NM_001614.5(ACTG1):c.18C>T (p.Ala6=) rs145211830 0.00128
NM_003072.5(SMARCA4):c.1419+9C>T rs374635008 0.00128
NM_004655.4(AXIN2):c.1952C>T (p.Ser651Leu) rs74006838 0.00128
NM_007254.4(PNKP):c.831G>A (p.Thr277=) rs148491228 0.00128
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349 0.00128
NM_020937.4(FANCM):c.2268C>A (p.Arg756=) rs146061601 0.00128
NM_203447.4(DOCK8):c.5010G>A (p.Ala1670=) rs142208336 0.00128
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_001110556.2(FLNA):c.6023-10C>G rs72616474 0.00127
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NM_001247997.2(CLIP1):c.297C>T (p.Asn99=) rs141383610 0.00127
NM_002025.4(AFF2):c.2656C>G (p.Pro886Ala) rs151043891 0.00127
NM_006031.6(PCNT):c.5199G>A (p.Lys1733=) rs61735808 0.00127
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=) rs144557304 0.00127
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile) rs144761622 0.00126
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259 0.00126
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_002291.3(LAMB1):c.1736G>A (p.Arg579Gln) rs115518856 0.00126
NM_004523.4(KIF11):c.2044C>G (p.Leu682Val) rs141856144 0.00126
NM_004525.3(LRP2):c.5209C>T (p.Leu1737Phe) rs149469954 0.00126
NM_005249.5(FOXG1):c.447C>T (p.Ala149=) rs112803404 0.00126
NM_017780.4(CHD7):c.3522+13T>A rs199581494 0.00126
NM_020987.5(ANK3):c.8534G>A (p.Gly2845Glu) rs139022925 0.00126
NM_022095.4(ZNF335):c.3392G>A (p.Arg1131Lys) rs114864530 0.00126
NM_032119.4(ADGRV1):c.1086A>G (p.Leu362=) rs186639101 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_000158.4(GBE1):c.1521T>C (p.Thr507=) rs372821643 0.00125
NM_000195.5(HPS1):c.557C>T (p.Ala186Val) rs1801286 0.00125
NM_000439.5(PCSK1):c.1197-9C>T rs200973203 0.00125
NM_000540.3(RYR1):c.94C>T (p.Leu32Phe) rs138630815 0.00125
NM_001080414.4(CCDC88C):c.3202G>T (p.Ala1068Ser) rs201044013 0.00125
NM_001353921.2(ARHGEF9):c.49A>G (p.Ile17Val) rs55868891 0.00125
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165 0.00125
NM_002024.6(FMR1):c.1572C>T (p.Ser524=) rs143889976 0.00125
NM_006231.4(POLE):c.6675C>T (p.Arg2225=) rs149973644 0.00125
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=) rs146417316 0.00125
NM_017757.3(ZNF407):c.5589G>A (p.Val1863=) rs183815209 0.00125
NM_030928.4(CDT1):c.514C>T (p.Arg172Cys) rs3218727 0.00125
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys) rs140600202 0.00125
NM_144508.5(KNL1):c.165C>T (p.Asn55=) rs201818761 0.00125
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu) rs201062903 0.00124
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_000162.5(GCK):c.208+11G>A rs77440690 0.00124
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln) rs35625434 0.00124
NM_001042492.3(NF1):c.4577+11C>G rs190614908 0.00124
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser) rs147580753 0.00124
NM_001378615.1(CC2D2A):c.2181+7A>C rs143681243 0.00124
NM_001387430.1(SH2B1):c.269C>A (p.Pro90His) rs149091795 0.00124
NM_002472.3(MYH8):c.1209C>A (p.Cys403Ter) rs144321381 0.00124
NM_003482.4(KMT2D):c.6733C>G (p.Leu2245Val) rs201931833 0.00124
NM_003482.4(KMT2D):c.9726C>T (p.Ala3242=) rs183688784 0.00124
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=) rs61731405 0.00124
NM_005373.3(MPL):c.754T>C (p.Tyr252His) rs141311765 0.00124
NM_006261.5(PROP1):c.471C>T (p.Tyr157=) rs145883811 0.00124
NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser) rs139037316 0.00124
NM_012232.6(CAVIN1):c.540G>A (p.Glu180=) rs143511306 0.00124
NM_015330.6(SPECC1L):c.1542G>A (p.Gln514=) rs139026931 0.00124
NM_021008.4(DEAF1):c.56T>C (p.Val19Ala) rs767318857 0.00124
NM_024753.5(TTC21B):c.2161A>C (p.Asn721His) rs146637219 0.00124
NM_030773.4(TUBB1):c.638G>A (p.Arg213His) rs62639975 0.00124
NM_138387.4(G6PC3):c.187A>C (p.Ile63Leu) rs34878178 0.00124
NM_198253.3(TERT):c.534C>T (p.Leu178=) rs370420108 0.00124
NM_001005361.3(DNM2):c.238C>T (p.His80Tyr) rs148790687 0.00123
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751 0.00123
NM_001330574.2(ZNF711):c.829G>A (p.Ala277Thr) rs145361311 0.00123
NM_006059.4(LAMC3):c.2066C>T (p.Pro689Leu) rs113443891 0.00123
NM_017534.6(MYH2):c.3127T>G (p.Ser1043Ala) rs11658164 0.00123
NM_020207.7(ERCC6L2):c.1375G>T (p.Val459Phe) rs146551545 0.00123
NM_021120.4(DLG3):c.429C>T (p.Phe143=) rs144225009 0.00123
NM_030665.4(RAI1):c.840G>A (p.Gln280=) rs398124421 0.00123
NM_032122.5(DTNBP1):c.276A>G (p.Thr92=) rs148092520 0.00123
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_198994.3(TGM6):c.956G>A (p.Arg319Gln) rs148376598 0.00123
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399 0.00122
NM_001904.4(CTNNB1):c.486C>T (p.Asp162=) rs5743392 0.00122
NM_003179.3(SYP):c.877G>A (p.Gly293Ser) rs139475570 0.00122
NM_005068.3(SIM1):c.383T>C (p.Ile128Thr) rs138546433 0.00122
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_012232.6(CAVIN1):c.923A>G (p.Tyr308Cys) rs146799286 0.00122
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=) rs138141427 0.00121
NM_000534.5(PMS1):c.2283T>C (p.Leu761=) rs150341545 0.00121
NM_001291303.3(FAT4):c.12479+8G>A rs150505878 0.00121
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=) rs147831309 0.00121
NM_003355.3(UCP2):c.169G>A (p.Ala57Thr) rs145662569 0.00121
NM_004278.4(PIGL):c.526+10G>A rs138410893 0.00121
NM_005120.3(MED12):c.5400+6C>T rs192656109 0.00121
NM_012452.3(TNFRSF13B):c.415T>C (p.Leu139=) rs141494621 0.00121
NM_013275.6(ANKRD11):c.6745C>T (p.Arg2249Cys) rs202081612 0.00121
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=) rs45439097 0.00121
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_006642.5(SDCCAG8):c.279G>A (p.Pro93=) rs145877279 0.00120
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=) rs61747281 0.00120
NM_020987.5(ANK3):c.2200C>T (p.Leu734=) rs144696256 0.00120
NM_024596.5(MCPH1):c.1236T>C (p.Tyr412=) rs142858644 0.00120
NM_001010898.4(SLC6A17):c.286+10A>G rs187996451 0.00119
NM_001110792.2(MECP2):c.246C>T (p.Ser82=) rs61754439 0.00119
NM_001164508.2(NEB):c.12C>T (p.Asp4=) rs117178114 0.00119
NM_001184.4(ATR):c.2776T>C (p.Phe926Leu) rs141783863 0.00119
NM_001365999.1(SZT2):c.4727G>A (p.Arg1576His) rs143935839 0.00119
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=) rs138770431 0.00119
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=) rs183390773 0.00119
NM_004260.4(RECQL4):c.3443C>T (p.Ser1148Phe) rs35346077 0.00119
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln) rs150712805 0.00119
NM_032531.4(KIRREL3):c.116T>A (p.Phe39Tyr) rs201204758 0.00119
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile) rs150861748 0.00119
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) rs2230210 0.00118
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721 0.00118
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys) rs3764758 0.00118
NM_001191061.2(SLC25A22):c.618G>A (p.Pro206=) rs150544061 0.00118
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr) rs187925021 0.00118
NM_001349338.3(FOXP1):c.643C>G (p.Pro215Ala) rs146606219 0.00118
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841 0.00118
NM_005333.5(HCCS):c.5G>A (p.Gly2Asp) rs144641429 0.00118
NM_014467.3(SRPX2):c.840G>A (p.Ala280=) rs139377205 0.00118
NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala) rs200042949 0.00118
NM_016219.5(MAN1B1):c.707C>T (p.Pro236Leu) rs147577332 0.00118
NM_018136.5(ASPM):c.7620A>G (p.Ala2540=) rs147160053 0.00118
NM_020207.7(ERCC6L2):c.4090A>C (p.Thr1364Pro) rs147269000 0.00118
NM_020921.4(NIN):c.612G>A (p.Arg204=) rs150057118 0.00118
NM_139027.6(ADAMTS13):c.2384C>T (p.Ala795Val) rs201607490 0.00118
NM_152564.5(VPS13B):c.11158G>A (p.Glu3720Lys) rs150393340 0.00118
NM_198253.3(TERT):c.2769G>A (p.Pro923=) rs200174990 0.00118
NM_201384.3(PLEC):c.3885G>A (p.Pro1295=) rs148465219 0.00118
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276 0.00117
NM_000545.8(HNF1A):c.1446C>T (p.Ser482=) rs147366495 0.00117
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=) rs72648255 0.00117
NM_001715.3(BLK):c.974A>C (p.Lys325Thr) rs77401687 0.00117
NM_003184.4(TAF2):c.157A>G (p.Ile53Val) rs112002462 0.00117
NM_004168.4(SDHA):c.1368G>A (p.Ser456=) rs149875171 0.00117
NM_005026.5(PIK3CD):c.436T>A (p.Phe146Ile) rs142285826 0.00117
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser) rs200440641 0.00117
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) rs149506027 0.00117
NM_000135.4(FANCA):c.115A>C (p.Arg39=) rs17232091 0.00116
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) rs143523271 0.00116
NM_000426.4(LAMA2):c.255C>T (p.Ile85=) rs142083777 0.00116
NM_001042681.2(RERE):c.3588A>G (p.Arg1196=) rs149634880 0.00116
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958 0.00116
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val) rs140317560 0.00116
NM_016169.4(SUFU):c.600C>T (p.Ile200=) rs149513330 0.00116
NM_020987.5(ANK3):c.11825A>G (p.Lys3942Arg) rs148549519 0.00116
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00116
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=) rs146424389 0.00116
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu) rs201089582 0.00116
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00115
NM_000249.4(MLH1):c.-7C>T rs104894994 0.00115
NM_000268.4(NF2):c.12C>T (p.Ala4=) rs144477078 0.00115
NM_000352.6(ABCC8):c.4656G>A (p.Lys1552=) rs145386421 0.00115
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=) rs150380620 0.00115
NM_000545.6(HNF1A):c.-527C>T rs3809315 0.00115
NM_000760.4(CSF3R):c.1856T>C (p.Leu619Ser) rs141619366 0.00115
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_001378120.1(MBD5):c.1368G>T (p.Ser456=) rs146020786 0.00115
NM_003383.5(VLDLR):c.242A>G (p.Asn81Ser) rs140526335 0.00115
NM_006031.6(PCNT):c.6957T>G (p.Phe2319Leu) rs61735813 0.00115
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_016222.4(DDX41):c.1354C>T (p.Leu452=) rs143421709 0.00115
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu) rs141715950 0.00115
NM_018943.3(TUBA8):c.324C>T (p.Tyr108=) rs2234327 0.00115
NM_139276.3(STAT3):c.551-4G>A rs80162032 0.00115
NM_000314.8(PTEN):c.-461G>A rs1209261790 0.00114
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385 0.00114
NM_002768.5(CHMP1A):c.51G>A (p.Lys17=) rs187184327 0.00114
NM_018136.5(ASPM):c.4436A>G (p.Lys1479Arg) rs115594989 0.00114
NM_020987.5(ANK3):c.4029G>A (p.Glu1343=) rs116757606 0.00114
NM_032444.4(SLX4):c.3676C>T (p.Arg1226Trp) rs142008398 0.00114
NM_000143.4(FH):c.-11C>T rs200942733 0.00113
NM_000207.3(INS):c.188-220C>T rs561372758 0.00113
NM_001130438.3(SPTAN1):c.1737C>T (p.Phe579=) rs143941068 0.00113
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) rs140640738 0.00113
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) rs149567378 0.00113
NM_002241.5(KCNJ10):c.812G>A (p.Arg271His) rs3795339 0.00113
NM_003136.4(SRP54):c.636A>C (p.Ile212=) rs140228686 0.00113
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883 0.00113
NM_030665.4(RAI1):c.972G>A (p.Pro324=) rs138675466 0.00113
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_182895.5(SCARF2):c.2522C>T (p.Thr841Ile) rs537247534 0.00113
NM_201525.4(ADGRG1):c.1983T>C (p.Gly661=) rs111939130 0.00113
NM_002691.4(POLD1):c.2979G>A (p.Thr993=) rs3218774 0.00112
NM_003383.5(VLDLR):c.75C>T (p.Thr25=) rs532555108 0.00112
NM_006015.6(ARID1A):c.5336A>G (p.Glu1779Gly) rs140946580 0.00112
NM_032444.4(SLX4):c.4479G>A (p.Ser1493=) rs150097733 0.00112
NM_000208.4(INSR):c.687C>T (p.Thr229=) rs150568177 0.00111
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122 0.00111
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722 0.00111
NM_014271.4(IL1RAPL1):c.2067C>G (p.Thr689=) rs140330609 0.00111
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00111
NM_173560.4(RFX6):c.2039C>A (p.Thr680Lys) rs146081967 0.00111
NM_000044.6(AR):c.1424C>T (p.Ala475Val) rs200390780 0.00110
NM_000249.4(MLH1):c.-28A>G rs56198082 0.00110
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) rs55663050 0.00110
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_007059.4(KPTN):c.188G>A (p.Arg63Gln) rs142867197 0.00110
NM_014956.5(CEP164):c.3332G>A (p.Arg1111His) rs61740738 0.00110
NM_018249.6(CDK5RAP2):c.3558C>T (p.Leu1186=) rs146736925 0.00110
NM_145207.3(AFG2A):c.1131G>A (p.Glu377=) rs139089747 0.00110
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys) rs140383655 0.00110
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=) rs35686213 0.00110
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493 0.00109
NM_000059.4(BRCA2):c.1911T>C (p.Gly637=) rs11571652 0.00109
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824 0.00109
NM_000162.5(GCK):c.660C>T (p.Cys220=) rs142952813 0.00109
NM_000525.4(KCNJ11):c.678C>T (p.Pro226=) rs74162102 0.00109
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
NM_001197104.2(KMT2A):c.6572G>A (p.Arg2191Gln) rs141727765 0.00109
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=) rs56402642 0.00109
NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=) rs55923848 0.00109
NM_001384732.1(CPLANE1):c.6905C>T (p.Thr2302Met) rs34737149 0.00109
NM_002025.4(AFF2):c.1788C>A (p.Ala596=) rs149492076 0.00109
NM_004586.3(RPS6KA3):c.139A>G (p.Ile47Val) rs140987045 0.00109
NM_007347.5(AP4E1):c.1276A>C (p.Ile426Leu) rs148817957 0.00109
NM_019066.5(MAGEL2):c.385A>G (p.Met129Val) rs188762916 0.00109
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647 0.00109
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala) rs56091799 0.00108
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192 0.00108
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00108
NM_001022.4(RPS19):c.60C>G (p.Ala20=) rs149249194 0.00108
NM_001077446.4(TSEN34):c.581C>T (p.Pro194Leu) rs200626822 0.00108
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr) rs148617456 0.00108
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) rs191484894 0.00108
NM_002067.5(GNA11):c.189C>T (p.His63=) rs61731116 0.00108
NM_003070.5(SMARCA2):c.1122C>G (p.Thr374=) rs138404604 0.00108
NM_003383.5(VLDLR):c.1901G>A (p.Arg634His) rs35339834 0.00108
NM_006031.6(PCNT):c.7180-8C>T rs143511166 0.00108
NM_006947.4(SRP72):c.2004A>G (p.Lys668=) rs148068843 0.00108
NM_020975.6(RET):c.1197G>A (p.Pro399=) rs148371113 0.00108
NM_022455.5(NSD1):c.339C>T (p.Cys113=) rs77093936 0.00108
NM_031407.7(HUWE1):c.1953C>G (p.Pro651=) rs139152809 0.00108
NM_000153.4(GALC):c.659G>A (p.Arg220Gln) rs199967869 0.00107
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_001080414.4(CCDC88C):c.2456A>G (p.Asp819Gly) rs61743881 0.00107
NM_001128840.3(CACNA1D):c.2467G>A (p.Val823Met) rs35090700 0.00107
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met) rs150661999 0.00107
NM_001282531.3(ADNP):c.2943G>T (p.Val981=) rs143103063 0.00107
NM_001374828.1(ARID1B):c.963C>T (p.Ala321=) rs533517668 0.00107
NM_001614.5(ACTG1):c.72C>T (p.Asp24=) rs139517777 0.00107
NM_003482.4(KMT2D):c.1938C>G (p.Pro646=) rs147212187 0.00107
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_006420.3(ARFGEF2):c.1888G>A (p.Val630Ile) rs146772848 0.00107
NM_006950.3(SYN1):c.1107C>T (p.Ile369=) rs150248483 0.00107
NM_007294.4(BRCA1):c.765G>A (p.Glu255=) rs62625299 0.00107
NM_020461.4(TUBGCP6):c.1452G>A (p.Pro484=) rs114942206 0.00107
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=) rs114725374 0.00107
NM_025009.5(CEP135):c.64C>T (p.Arg22Cys) rs150681316 0.00107
NM_025114.4(CEP290):c.1716A>G (p.Leu572=) rs372349042 0.00107
NM_144508.5(KNL1):c.2311G>A (p.Val771Ile) rs151288115 0.00107
NM_201384.3(PLEC):c.3070G>A (p.Ala1024Thr) rs376665854 0.00107
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907 0.00106
NM_000081.4(LYST):c.7506A>G (p.Gln2502=) rs140434436 0.00106
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) rs148405563 0.00106
NM_000551.3(VHL):c.-97T>G rs34271731 0.00106
NM_000551.4(VHL):c.-5A>C rs35793832 0.00106
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553 0.00106
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485 0.00106
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477 0.00106
NM_001374828.1(ARID1B):c.3105C>T (p.Pro1035=) rs144894118 0.00106
NM_001379500.1(COL18A1):c.3837G>A (p.Ser1279=) rs113315760 0.00106
NM_001614.5(ACTG1):c.531T>C (p.Arg177=) rs143851458 0.00106
NM_004036.5(ADCY3):c.327C>T (p.Ala109=) rs147964025 0.00106
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00106
NM_016013.4(NDUFAF1):c.708G>A (p.Met236Ile) rs150539399 0.00106
NM_021969.3(NR0B2):c.339G>A (p.Pro113=) rs143133224 0.00106
NM_139027.6(ADAMTS13):c.2708C>T (p.Ser903Leu) rs78977446 0.00106
NM_144508.5(KNL1):c.251-7T>A rs555296963 0.00106
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=) rs118158347 0.00106
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu) rs144968313 0.00106
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00105
NM_001128840.3(CACNA1D):c.1344C>T (p.Ile448=) rs145203578 0.00105
NM_001184.4(ATR):c.2637C>T (p.Ala879=) rs150512706 0.00105
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_002025.4(AFF2):c.3696A>T (p.Pro1232=) rs35967616 0.00105
NM_005045.4(RELN):c.474-7T>C rs55693709 0.00105
NM_006059.4(LAMC3):c.558C>T (p.Arg186=) rs2275135 0.00105
NM_006206.6(PDGFRA):c.1731G>A (p.Pro577=) rs55830582 0.00105
NM_020717.5(SHROOM4):c.266G>A (p.Arg89Lys) rs148911180 0.00105
NM_020717.5(SHROOM4):c.4066G>A (p.Val1356Ile) rs137923286 0.00105
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291 0.00105
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro) rs138760432 0.00105
NM_001111077.2(EZR):c.1131G>A (p.Glu377=) rs112461897 0.00104
NM_001184.4(ATR):c.7041+8G>A rs201106004 0.00104
NM_001244008.2(KIF1A):c.3246C>T (p.Ala1082=) rs368682964 0.00104
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500 0.00104
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840 0.00104
NM_004304.5(ALK):c.4785C>T (p.Ala1595=) rs76150405 0.00104
NM_025103.4(IFT74):c.163A>T (p.Ile55Leu) rs62542664 0.00104
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_001018115.3(FANCD2):c.491+10G>A rs17032279 0.00103
NM_001042432.2(CLN3):c.768C>T (p.Thr256=) rs145967477 0.00103
NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln) rs111768745 0.00103
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=) rs147840220 0.00103
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592 0.00103
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=) rs150286673 0.00103
NM_002691.4(POLD1):c.3054G>A (p.Val1018=) rs369613619 0.00103
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_003355.3(UCP2):c.115G>A (p.Val39Ile) rs148253207 0.00103
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=) rs546554430 0.00103
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys) rs145613634 0.00103
NM_007175.8(ERLIN2):c.123G>A (p.Leu41=) rs112575270 0.00103
NM_012309.5(SHANK2):c.4926G>A (p.Pro1642=) rs150021463 0.00103
NM_015662.3(IFT172):c.3530+7T>C rs150882197 0.00103
NM_018136.5(ASPM):c.9276T>C (p.Gly3092=) rs151142538 0.00103
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_133642.5(LARGE1):c.408+8G>A rs141818070 0.00103
NM_144508.5(KNL1):c.4231G>A (p.Gly1411Arg) rs150569450 0.00103
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=) rs147961615 0.00102
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser) rs878852992 0.00102
NM_001005361.3(DNM2):c.2061G>A (p.Thr687=) rs149164657 0.00102
NM_001082486.2(ACD):c.132C>T (p.Gly44=) rs138527794 0.00102
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341 0.00102
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248 0.00102
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) rs201562505 0.00102
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066 0.00102
NM_006420.3(ARFGEF2):c.811C>G (p.Pro271Ala) rs143570842 0.00102
NM_012096.3(APPL1):c.1430+9dup rs146206524 0.00102
NM_016222.4(DDX41):c.1470C>T (p.Asp490=) rs151018711 0.00102
NM_018943.3(TUBA8):c.1080G>A (p.Pro360=) rs145407514 0.00102
NM_030665.4(RAI1):c.1524G>A (p.Thr508=) rs141826168 0.00102
NM_030962.4(SBF2):c.777G>A (p.Pro259=) rs142261202 0.00102
NM_181507.2(HPS5):c.241G>A (p.Ala81Thr) rs147053126 0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000162.5(GCK):c.-455A>G rs140894490 0.00101
NM_000179.3(MSH6):c.984C>T (p.Ser328=) rs138143769 0.00101
NM_000251.3(MSH2):c.819A>G (p.Val273=) rs146577635 0.00101
NM_000489.6(ATRX):c.846C>T (p.Ser282=) rs148015780 0.00101
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767 0.00101
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr) rs61750603 0.00101
NM_001012339.3(DNAJC21):c.1261C>G (p.Gln421Glu) rs146564466 0.00101
NM_001184.4(ATR):c.4200A>T (p.Leu1400=) rs150562945 0.00101
NM_001197104.2(KMT2A):c.2965C>T (p.Leu989Phe) rs139989306 0.00101
NM_001364905.1(LRBA):c.1713C>T (p.His571=) rs145812385 0.00101
NM_001377.3(DYNC2H1):c.6551A>T (p.Asp2184Val) rs201967064 0.00101
NM_006279.5(ST3GAL3):c.118+10G>C rs147330005 0.00101
NM_006950.3(SYN1):c.1110C>T (p.Cys370=) rs141925310 0.00101
NM_014467.3(SRPX2):c.481C>A (p.Arg161=) rs150552508 0.00101
NM_014875.3(KIF14):c.2136C>T (p.Asn712=) rs145353826 0.00101
NM_020207.7(ERCC6L2):c.2855G>A (p.Arg952Lys) rs185740878 0.00101
NM_020987.5(ANK3):c.9935C>T (p.Ala3312Val) rs201625904 0.00101
NM_024592.5(SRD5A3):c.566A>C (p.Tyr189Ser) rs35496669 0.00101
NM_024675.4(PALB2):c.909C>T (p.Leu303=) rs145788619 0.00101
NM_133433.4(NIPBL):c.2256A>G (p.Glu752=) rs148075057 0.00101
NM_181332.3(NLGN4X):c.591C>T (p.Ile197=) rs149003627 0.00101
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533 0.00100
NM_001070.5(TUBG1):c.1318C>T (p.Arg440Trp) rs144903375 0.00100
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) rs148688181 0.00100
NM_004525.3(LRP2):c.2603C>G (p.Thr868Ser) rs150752263 0.00100
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=) rs144216539 0.00100
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343 0.00100
NM_198253.3(TERT):c.572G>C (p.Ser191Thr) rs11952056 0.00100
NM_203290.4(POLR1C):c.193A>G (p.Met65Val) rs141471029 0.00100
NM_000383.4(AIRE):c.789C>T (p.Gly263=) rs138066507 0.00099
NM_000535.7(PMS2):c.353+9A>C rs139990791 0.00099
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=) rs148700620 0.00099
NM_001244008.2(KIF1A):c.4875G>A (p.Pro1625=) rs201418175 0.00099
NM_001365536.1(SCN9A):c.3195C>T (p.Ser1065=) rs111674454 0.00099
NM_001382347.1(MYO5A):c.3136G>A (p.Val1046Met) rs56132571 0.00099
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412 0.00099
NM_024675.4(PALB2):c.2365C>T (p.Leu789=) rs145805054 0.00099
NM_182914.3(SYNE2):c.11479G>C (p.Val3827Leu) rs138514054 0.00099
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085 0.00098
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053 0.00098
NM_001001433.3(STX16):c.456G>T (p.Glu152Asp) rs138647604 0.00098
NM_001082486.2(ACD):c.613A>G (p.Thr205Ala) rs139438549 0.00098
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=) rs200278701 0.00098
NM_001256545.2(MEGF10):c.3026-8C>T rs185480820 0.00098
NM_003193.5(TBCE):c.1577G>A (p.Arg526Gln) rs140662460 0.00098
NM_004714.3(DYRK1B):c.1732C>T (p.Pro578Ser) rs144803038 0.00098
NM_005045.4(RELN):c.5200C>G (p.Leu1734Val) rs362800 0.00098
NM_005045.4(RELN):c.6141C>T (p.Phe2047=) rs79161241 0.00098
NM_006420.3(ARFGEF2):c.1644G>A (p.Glu548=) rs147534008 0.00098
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_015450.3(POT1):c.1022A>G (p.Gln341Arg) rs554325914 0.00098
NM_018993.4(RIN2):c.1004C>G (p.Pro335Arg) rs200780805 0.00098
NM_025074.7(FRAS1):c.10539A>G (p.Thr3513=) rs199921300 0.00098
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00097
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val) rs117874766 0.00097
NM_001111125.3(IQSEC2):c.3990G>A (p.Gly1330=) rs371450118 0.00097
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077 0.00097
NM_001161352.2(KCNMA1):c.2015+7G>A rs78670694 0.00097
NM_001254.4(CDC6):c.165C>T (p.Pro55=) rs142289528 0.00097
NM_001282531.3(ADNP):c.3279C>T (p.Ala1093=) rs142247083 0.00097
NM_001318510.2(ACSL4):c.806+3A>G rs183171123 0.00097
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe) rs139337049 0.00097
NM_018993.4(RIN2):c.1045C>T (p.Pro349Ser) rs201486809 0.00097
NM_020921.4(NIN):c.5996G>A (p.Arg1999His) rs141405524 0.00097
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly) rs142872154 0.00097
NM_000032.5(ALAS2):c.1647T>C (p.Asp549=) rs35075981 0.00096
NM_000038.6(APC):c.2262T>G (p.Val754=) rs148987776 0.00096
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_000059.4(BRCA2):c.6937+594T>G rs191253965 0.00096
NM_000179.3(MSH6):c.3265T>C (p.Leu1089=) rs34490141 0.00096
NM_000372.5(TYR):c.665T>C (p.Ile222Thr) rs34878847 0.00096
NM_000751.3(CHRND):c.1400G>A (p.Arg467His) rs148939701 0.00096
NM_001080517.3(SETD5):c.2544T>G (p.Leu848=) rs147128913 0.00096
NM_001083961.2(WDR62):c.2211-4G>A rs202109439 0.00096
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764 0.00096
NM_001145358.2(SIN3A):c.942C>T (p.Ile314=) rs147885320 0.00096
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=) rs146402942 0.00096
NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=) rs143495349 0.00096
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955 0.00096
NM_004387.4(NKX2-5):c.606G>C (p.Leu202=) rs3729753 0.00096
NM_006009.4(TUBA1A):c.786T>C (p.Tyr262=) rs762008241 0.00096
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala) rs138481453 0.00096
NM_016038.4(SBDS):c.127G>T (p.Val43Leu) rs147652512 0.00096
NM_020921.4(NIN):c.4937G>A (p.Arg1646His) rs149669464 0.00096
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp) rs141528309 0.00096
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033 0.00096
NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met) rs146492238 0.00096
NM_173630.4(RTTN):c.805T>C (p.Phe269Leu) rs141156594 0.00096
NM_173689.7(CRB2):c.737G>A (p.Arg246His) rs150339335 0.00096
NM_000479.5(AMH):c.991T>C (p.Ser331Pro) rs556078854 0.00095
NM_001128126.3(AP4S1):c.29A>G (p.Lys10Arg) rs147135554 0.00095
NM_001368397.1(FRMPD4):c.388G>A (p.Ala130Thr) rs139449383 0.00095
NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val) rs56321129 0.00095
NM_012156.2(EPB41L1):c.111C>T (p.His37=) rs140731421 0.00095
NM_020717.5(SHROOM4):c.1053C>A (p.Ser351Arg) rs59595864 0.00095
NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=) rs142126065 0.00095
NM_031407.7(HUWE1):c.4503C>T (p.Pro1501=) rs144449744 0.00095
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861 0.00095
NM_207361.6(FREM2):c.2367G>A (p.Pro789=) rs140101984 0.00095
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=) rs372997298 0.00094
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243 0.00094
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) rs55892928 0.00094
NM_001354604.2(MITF):c.1280T>C (p.Val427Ala) rs2055006 0.00094
NM_001813.3(CENPE):c.6203G>C (p.Arg2068Thr) rs148969710 0.00094
NM_004836.7(EIF2AK3):c.112G>A (p.Ala38Thr) rs886042833 0.00094
NM_000352.6(ABCC8):c.1874C>T (p.Ala625Val) rs148709148 0.00093
NM_001012339.3(DNAJC21):c.656C>T (p.Ala219Val) rs144046917 0.00093
NM_001110556.2(FLNA):c.1881C>T (p.Gly627=) rs188138322 0.00093
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp) rs143502850 0.00093
NM_002968.3(SALL1):c.411C>T (p.Ser137=) rs151051011 0.00093
NM_003597.5(KLF11):c.486A>G (p.Pro162=) rs146462049 0.00093
NM_012309.5(SHANK2):c.2338A>C (p.Lys780Gln) rs55968949 0.00093
NM_014915.3(ANKRD26):c.542C>T (p.Thr181Ile) rs191015656 0.00093
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_017721.5(CC2D1A):c.2125+18G>A rs201665826 0.00093
NM_024101.7(MLPH):c.1416G>A (p.Thr472=) rs139181999 0.00093
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686 0.00092
NM_000208.4(INSR):c.190T>C (p.Leu64=) rs144836032 0.00092
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys) rs72648939 0.00092
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) rs200663107 0.00092
NM_006420.3(ARFGEF2):c.2686-9C>T rs200945599 0.00092
NM_012233.3(RAB3GAP1):c.2904T>C (p.Phe968=) rs146045827 0.00092
NM_015559.3(SETBP1):c.4290G>A (p.Val1430=) rs139896661 0.00092
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) rs200092211 0.00091
NM_001143992.2(WRAP53):c.1075C>T (p.Pro359Ser) rs149359927 0.00091
NM_005045.4(RELN):c.1001G>A (p.Arg334His) rs146922726 0.00091
NM_005257.6(GATA6):c.1375G>A (p.Ala459Thr) rs151176879 0.00091
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala) rs3027884 0.00091
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr) rs201404751 0.00091
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met) rs200164926 0.00091
NM_007325.5(GRIA3):c.159T>C (p.Phe53=) rs145583732 0.00091
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe) rs55708915 0.00091
NM_032833.5(PPP1R15B):c.1407A>T (p.Glu469Asp) rs141538150 0.00091
NM_032977.4(CASP10):c.1502C>T (p.Pro501Leu) rs148939095 0.00091
NM_139276.3(STAT3):c.1329C>T (p.Thr443=) rs147955721 0.00091
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=) rs61754107 0.00091
NM_152703.5(SAMD9L):c.3567T>C (p.Tyr1189=) rs139124790 0.00091
NM_177550.5(SLC13A5):c.231+6C>A rs138834680 0.00091
NM_182914.3(SYNE2):c.7124T>C (p.Leu2375Pro) rs111902869 0.00091
NM_000426.4(LAMA2):c.5021G>A (p.Arg1674Lys) rs143333246 0.00090
NM_001080510.5(METTL23):c.255T>G (p.Ser85=) rs370380855 0.00090
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199 0.00090
NM_006005.3(WFS1):c.683G>A (p.Arg228His) rs150771247 0.00090
NM_006015.6(ARID1A):c.3716-7C>T rs150792057 0.00090
NM_020822.3(KCNT1):c.1879A>G (p.Ile627Val) rs143355299 0.00090
NM_213622.4(STAMBP):c.764G>A (p.Arg255His) rs146601260 0.00090
NM_000550.3(TYRP1):c.1029C>T (p.Asp343=) rs145061390 0.00089
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00089
NM_001160372.4(TRAPPC9):c.159C>T (p.Leu53=) rs112997540 0.00089
NM_001160372.4(TRAPPC9):c.3414T>G (p.Ser1138Arg) rs147127279 0.00089
NM_001382347.1(MYO5A):c.696T>C (p.Tyr232=) rs148997257 0.00089
NM_004329.3(BMPR1A):c.1395G>C (p.Pro465=) rs55845713 0.00089
NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys) rs3746366 0.00089
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187 0.00088
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala) rs45491005 0.00088
NM_000208.4(INSR):c.2793G>A (p.Ala931=) rs111502197 0.00088
NM_000276.4(OCRL):c.40-5C>T rs201211377 0.00088
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585 0.00088
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687 0.00088
NM_001349338.3(FOXP1):c.1413A>G (p.Ala471=) rs144080925 0.00088
NM_001374353.1(GLI2):c.2939C>G (p.Pro980Arg) rs563818052 0.00088
NM_002025.4(AFF2):c.496C>T (p.Pro166Ser) rs150996735 0.00088
NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro) rs150000996 0.00088
NM_006015.6(ARID1A):c.472C>T (p.Pro158Ser) rs567246585 0.00088
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg) rs149623054 0.00088
NM_015922.3(NSDHL):c.267+7G>A rs184536370 0.00088
NM_020822.3(KCNT1):c.1134C>T (p.Val378=) rs149960236 0.00088
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=) rs369983077 0.00088
NM_020822.3(KCNT1):c.3157-8C>T rs371874401 0.00088
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652 0.00088
NM_025074.7(FRAS1):c.4095C>T (p.Ile1365=) rs79869130 0.00088
NM_000208.4(INSR):c.959C>T (p.Thr320Met) rs138528064 0.00087
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622 0.00087
NM_002206.3(ITGA7):c.791-7C>T rs144699549 0.00087
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val) rs112005830 0.00087
NM_016219.5(MAN1B1):c.304A>C (p.Ile102Leu) rs149322865 0.00087
NM_020831.6(MRTFA):c.714G>A (p.Pro238=) rs150826874 0.00087
NM_020987.5(ANK3):c.10761G>A (p.Thr3587=) rs138986388 0.00087
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) rs149126845 0.00087
NM_032833.5(PPP1R15B):c.156C>T (p.Ser52=) rs147611819 0.00087
NM_178138.6(LHX3):c.79+1902C>T rs375579333 0.00087
NM_000081.4(LYST):c.8027G>T (p.Ser2676Ile) rs113209379 0.00086
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894 0.00086
NM_000426.4(LAMA2):c.922G>A (p.Glu308Lys) rs146462599 0.00086
NM_001042413.2(GLIS3):c.1044C>T (p.Tyr348=) rs146238548 0.00086
NM_001042413.2(GLIS3):c.2340G>A (p.Arg780=) rs147473975 0.00086
NM_001134673.4(NFIA):c.*42C>T rs114023473 0.00086
NM_001197104.2(KMT2A):c.6009C>T (p.Asp2003=) rs77421119 0.00086
NM_001283009.2(RTEL1):c.2805C>T (p.Leu935=) rs12625047 0.00086
NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys) rs201905890 0.00086
NM_001904.4(CTNNB1):c.860A>G (p.Asn287Ser) rs35288908 0.00086
NM_004836.7(EIF2AK3):c.3153C>T (p.Tyr1051=) rs56120877 0.00086
NM_006031.6(PCNT):c.7803G>A (p.Ala2601=) rs144869229 0.00086
NM_012210.4(TRIM32):c.6T>G (p.Ala2=) rs141352486 0.00086
NM_014915.3(ANKRD26):c.1806G>A (p.Glu602=) rs187923892 0.00086
NM_015080.4(NRXN2):c.3757+9C>T rs376552947 0.00086
NM_018013.4(SOBP):c.1810C>A (p.Gln604Lys) rs368271940 0.00086
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe) rs115722008 0.00086
NM_030928.4(CDT1):c.758G>A (p.Arg253His) rs148337159 0.00086
NM_152384.3(BBS5):c.751A>G (p.Asn251Asp) rs143113298 0.00086
NM_152416.4(NDUFAF6):c.738T>C (p.Phe246=) rs202047755 0.00086
NM_000208.4(INSR):c.2970G>A (p.Pro990=) rs41304772 0.00085
NM_001048166.1(STIL):c.2906A>G (p.His969Arg) rs148193936 0.00085
NM_001099922.3(ALG13):c.1591T>C (p.Leu531=) rs112837367 0.00085
NM_002472.3(MYH8):c.4042G>A (p.Glu1348Lys) rs140562514 0.00085
NM_003977.4(AIP):c.301G>A (p.Val101Met) rs147931650 0.00085
NM_005026.5(PIK3CD):c.1815C>T (p.Asp605=) rs115808092 0.00085
NM_006947.4(SRP72):c.1170T>C (p.Ser390=) rs143262707 0.00085
NM_014915.3(ANKRD26):c.1451T>C (p.Val484Ala) rs201461870 0.00085
NM_032444.4(SLX4):c.3774C>T (p.Pro1258=) rs146054214 0.00085
NM_153240.5(NPHP3):c.105G>A (p.Lys35=) rs377060857 0.00085
NM_201384.3(PLEC):c.4860C>T (p.Ala1620=) rs144880376 0.00085
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415 0.00084
NM_001134665.3(TRMT10A):c.955C>A (p.Pro319Thr) rs143207059 0.00084
NM_001367721.1(CASK):c.1077G>A (p.Ala359=) rs145641295 0.00084
NM_004525.3(LRP2):c.987G>A (p.Ala329=) rs141751667 0.00084
NM_005045.4(RELN):c.7111G>A (p.Ala2371Thr) rs79377093 0.00084
NM_006059.4(LAMC3):c.2276G>A (p.Gly759Asp) rs150859618 0.00084
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=) rs146673563 0.00084
NM_016734.3(PAX5):c.954C>T (p.His318=) rs144574685 0.00084
NM_020461.4(TUBGCP6):c.2574G>C (p.Trp858Cys) rs147989796 0.00084
NM_175914.5(HNF4A):c.84G>A (p.Ala28=) rs41282026 0.00084
NM_198253.3(TERT):c.1336C>A (p.Arg446Ser) rs567650961 0.00084
NM_207346.3(TSEN54):c.959C>T (p.Pro320Leu) rs189860274 0.00084
NM_207361.6(FREM2):c.1580C>T (p.Ser527Leu) rs139804851 0.00084
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu) rs147017625 0.00083
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=) rs147623093 0.00083
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748 0.00083
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989 0.00083
NM_001330078.2(NRXN1):c.2772C>T (p.Tyr924=) rs200182626 0.00083
NM_002691.4(POLD1):c.612C>T (p.His204=) rs147881471 0.00083
NM_002894.3(RBBP8):c.109+6A>G rs149189755 0.00083
NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn) rs61736899 0.00083
NM_004714.3(DYRK1B):c.*9C>G rs370237703 0.00083
NM_006005.3(WFS1):c.966C>T (p.His322=) rs140196582 0.00083
NM_006086.4(TUBB3):c.921C>T (p.His307=) rs147283850 0.00083
NM_014317.5(PDSS1):c.411A>G (p.Arg137=) rs114640034 0.00083
NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys) rs200461412 0.00083
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638 0.00083
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_019066.5(MAGEL2):c.3690G>C (p.Glu1230Asp) rs34875116 0.00083
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His) rs139382267 0.00083
NM_022095.4(ZNF335):c.1646+5G>T rs149232277 0.00083
NM_025099.6(CTC1):c.1728G>A (p.Pro576=) rs78320653 0.00083
NM_198253.3(TERT):c.1849C>T (p.Leu617=) rs140951453 0.00083
NM_001123385.2(BCOR):c.2514C>A (p.Pro838=) rs147497014 0.00082
NM_006772.3(SYNGAP1):c.1776A>G (p.Ser592=) rs150153477 0.00082
NM_024596.5(MCPH1):c.647T>C (p.Ile216Thr) rs75741316 0.00082
NM_173630.4(RTTN):c.2536G>A (p.Val846Ile) rs113536228 0.00082
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000214.3(JAG1):c.439+10G>A rs201371037 0.00081
NM_000545.8(HNF1A):c.1107+9C>G rs17847497 0.00081
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=) rs138996307 0.00081
NM_000702.4(ATP1A2):c.2563+4C>T rs3747626 0.00081
NM_001032221.6(STXBP1):c.1702+10C>T rs147607230 0.00081
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012 0.00081
NM_001130987.2(DYSF):c.3756+9G>T rs191746041 0.00081
NM_001134665.3(TRMT10A):c.665C>T (p.Ala222Val) rs140905333 0.00081
NM_001372044.2(SHANK3):c.4118G>A (p.Arg1373Lys) rs201483867 0.00081
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile) rs150887098 0.00081
NM_002500.5(NEUROD1):c.610C>T (p.Pro204Ser) rs142123958 0.00081
NM_003356.4(UCP3):c.155C>T (p.Thr52Met) rs17848367 0.00081
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497 0.00081
NM_006420.3(ARFGEF2):c.1398T>C (p.Phe466=) rs141596938 0.00081
NM_018341.3(ERMARD):c.241C>T (p.His81Tyr) rs137971039 0.00081
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala) rs145758265 0.00081
NM_173630.4(RTTN):c.1221A>G (p.Glu407=) rs112327299 0.00081
NM_198428.3(BBS9):c.2105C>A (p.Thr702Asn) rs149362446 0.00081
NM_201384.3(PLEC):c.8331C>T (p.Tyr2777=) rs141673192 0.00081
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972 0.00080
NM_000207.2(INS):c.-139A>G rs571342427 0.00080
NM_000316.3(PTH1R):c.1305G>A (p.Thr435=) rs142921504 0.00080
NM_001101.5(ACTB):c.762G>C (p.Arg254=) rs145818896 0.00080
NM_001110792.2(MECP2):c.*9G>A rs144008995 0.00080
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_001130987.2(DYSF):c.4694A>C (p.Lys1565Thr) rs76086153 0.00080
NM_001848.3(COL6A1):c.350T>C (p.Val117Ala) rs138899581 0.00080
NM_024596.5(MCPH1):c.1193C>T (p.Ala398Val) rs202241113 0.00080
NM_025074.7(FRAS1):c.9446C>T (p.Thr3149Met) rs150680111 0.00080
NM_025114.4(CEP290):c.2487A>G (p.Glu829=) rs371159780 0.00080
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser) rs149636614 0.00079
NM_000051.4(ATM):c.3517T>C (p.Leu1173=) rs141460670 0.00079
NM_000051.4(ATM):c.7928-10T>C rs188404773 0.00079
NM_000321.3(RB1):c.920C>T (p.Thr307Ile) rs183898408 0.00079
NM_001040142.2(SCN2A):c.5446G>T (p.Ala1816Ser) rs147084515 0.00079
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=) rs150015024 0.00079
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile) rs56130023 0.00079
NM_001374828.1(ARID1B):c.5384A>G (p.Asn1795Ser) rs140177120 0.00079
NM_005327.7(HADH):c.614G>C (p.Gly205Ala) rs144699575 0.00079
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser) rs147366706 0.00079
NM_006059.4(LAMC3):c.2227A>G (p.Asn743Asp) rs36030184 0.00079
NM_014915.3(ANKRD26):c.3735G>A (p.Thr1245=) rs199716344 0.00079
NM_020987.5(ANK3):c.7305T>C (p.Tyr2435=) rs115257011 0.00079
NM_152743.4(BRAT1):c.2041G>A (p.Glu681Lys) rs145833100 0.00079
NM_198576.4(AGRN):c.2266G>A (p.Ala756Thr) rs140764403 0.00079
NM_207361.6(FREM2):c.177T>C (p.Gly59=) rs370018440 0.00079
NM_207361.6(FREM2):c.2823C>T (p.Pro941=) rs150154438 0.00079
NM_000209.4(PDX1):c.165C>A (p.Gly55=) rs530567443 0.00078
NM_000297.4(PKD2):c.784G>A (p.Val262Met) rs138132026 0.00078
NM_001083961.2(WDR62):c.3303G>A (p.Thr1101=) rs117887683 0.00078
NM_001130438.3(SPTAN1):c.6960-8T>C rs140241053 0.00078
NM_001160372.4(TRAPPC9):c.3241G>A (p.Val1081Ile) rs141067069 0.00078
NM_001353108.3(CEP63):c.567C>A (p.Val189=) rs146845434 0.00078
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298 0.00078
NM_001918.5(DBT):c.327C>T (p.Thr109=) rs138796800 0.00078
NM_004387.4(NKX2-5):c.114G>A (p.Glu38=) rs151314714 0.00078
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) rs376049260 0.00078
NM_005732.4(RAD50):c.3036+5G>A rs181016343 0.00078
NM_006009.4(TUBA1A):c.226+10C>T rs199717430 0.00078
NM_014795.4(ZEB2):c.798G>C (p.Gly266=) rs34961586 0.00078
NM_016169.4(SUFU):c.412G>A (p.Ala138Thr) rs34406289 0.00078
NM_018249.6(CDK5RAP2):c.1079C>T (p.Thr360Ile) rs145165171 0.00078
NM_030665.4(RAI1):c.301G>A (p.Gly101Ser) rs145801481 0.00078
NM_032444.4(SLX4):c.2786C>T (p.Pro929Leu) rs117707719 0.00078
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447 0.00077
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535 0.00077
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=) rs35282988 0.00077
NM_001077365.2(POMT1):c.986+9A>G rs202095070 0.00077
NM_001083961.2(WDR62):c.1228G>T (p.Val410Leu) rs139460397 0.00077
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu) rs139398993 0.00077
NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly) rs17848880 0.00077
NM_004187.5(KDM5C):c.108C>T (p.Pro36=) rs139309563 0.00077
NM_007294.4(BRCA1):c.-86C>T rs143160357 0.00077
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=) rs150296373 0.00077
NM_032122.5(DTNBP1):c.162G>A (p.Arg54=) rs77460377 0.00077
NM_032415.7(CARD11):c.3145-3C>T rs200456391 0.00077
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr) rs140095832 0.00077
NM_000051.4(ATM):c.3150T>C (p.Leu1050=) rs3092859 0.00076
NM_000135.4(FANCA):c.2391G>A (p.Ala797=) rs147882314 0.00076
NM_000168.6(GLI3):c.4005G>A (p.Pro1335=) rs149860242 0.00076
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=) rs28446339 0.00076
NM_000340.2(SLC2A2):c.1164G>A (p.Val388=) rs140794946 0.00076
NM_000406.3(GNRHR):c.436C>T (p.Pro146Ser) rs144900788 0.00076
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr) rs147196739 0.00076
NM_001040142.2(SCN2A):c.897A>G (p.Ser299=) rs143765389 0.00076
NM_001123385.2(BCOR):c.4488A>C (p.Ala1496=) rs138741225 0.00076
NM_001206744.2(TPO):c.660C>T (p.Val220=) rs151154074 0.00076
NM_001378183.1(PIEZO2):c.6475G>C (p.Glu2159Gln) rs200276831 0.00076
NM_001384732.1(CPLANE1):c.1883G>A (p.Arg628Lys) rs74975451 0.00076
NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653 0.00076
NM_003482.4(KMT2D):c.3737C>T (p.Thr1246Met) rs112921115 0.00076
NM_004782.4(SNAP29):c.629C>T (p.Ser210Phe) rs141934766 0.00076
NM_015102.5(NPHP4):c.3843G>T (p.Leu1281=) rs9662691 0.00076
NM_025009.5(CEP135):c.2806A>G (p.Ile936Val) rs139474852 0.00076
NM_030632.3(ASXL3):c.514T>C (p.Ser172Pro) rs201872027 0.00076
NM_030665.4(RAI1):c.3357C>T (p.Ser1119=) rs139448147 0.00076
NM_030787.4(CFHR5):c.432A>T (p.Lys144Asn) rs181511327 0.00076
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp) rs145855459 0.00076
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile) rs150185067 0.00076
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn) rs149359120 0.00075
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His) rs45510294 0.00075
NM_001110556.2(FLNA):c.3064C>G (p.Pro1022Ala) rs200150148 0.00075
NM_001111077.2(EZR):c.959+7G>A rs201317128 0.00075
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys) rs142525903 0.00075
NM_001365999.1(SZT2):c.8916+8G>A rs147419780 0.00075
NM_001376.5(DYNC1H1):c.7419C>T (p.Asn2473=) rs111459275 0.00075
NM_001378183.1(PIEZO2):c.6153C>T (p.Ala2051=) rs375812718 0.00075
NM_001813.3(CENPE):c.4273G>A (p.Gly1425Arg) rs116330917 0.00075
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543 0.00075
NM_004168.4(SDHA):c.1002G>A (p.Ala334=) rs144252500 0.00075
NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly) rs139871607 0.00075
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981 0.00075
NM_013328.4(PYCR2):c.924C>G (p.Leu308=) rs181648767 0.00075
NM_022089.4(ATP13A2):c.106-8G>A rs200587951 0.00075
NM_022095.4(ZNF335):c.3445A>G (p.Ile1149Val) rs143113106 0.00075
NM_153026.3(PRICKLE1):c.2071A>G (p.Thr691Ala) rs149496604 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336 0.00074
NM_000545.8(HNF1A):c.-89T>C rs767550584 0.00074
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=) rs151335428 0.00074
NM_001291867.2(NHS):c.3929G>T (p.Gly1310Val) rs41304731 0.00074
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser) rs200792504 0.00074
NM_004523.4(KIF11):c.2512A>C (p.Asn838His) rs34647366 0.00074
NM_005188.4(CBL):c.1641T>C (p.Pro547=) rs61755280 0.00074
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn) rs181795958 0.00074
NM_024580.6(EFL1):c.270G>C (p.Leu90=) rs187290995 0.00074
NM_058216.3(RAD51C):c.146-8A>G rs201079501 0.00074
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu) rs149531438 0.00074
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_001083961.2(WDR62):c.2529C>T (p.Asp843=) rs144697999 0.00073
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250 0.00073
NM_001134665.3(TRMT10A):c.398G>A (p.Arg133Gln) rs10007569 0.00073
NM_003482.4(KMT2D):c.1187C>G (p.Pro396Arg) rs377452989 0.00073
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys) rs113594027 0.00073
NM_014423.4(AFF4):c.830G>C (p.Ser277Thr) rs141068875 0.00073
NM_020975.6(RET):c.1124T>A (p.Leu375Gln) rs142338976 0.00073
NM_020987.5(ANK3):c.7469C>T (p.Pro2490Leu) rs140741466 0.00073
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=) rs140815139 0.00073
NM_024757.5(EHMT1):c.251G>A (p.Gly84Asp) rs142887098 0.00073
NM_025114.4(CEP290):c.341G>A (p.Arg114His) rs150296134 0.00073
NM_030665.4(RAI1):c.4526A>G (p.Gln1509Arg) rs140063274 0.00073
NM_032793.5(MFSD2A):c.1533C>T (p.Asp511=) rs138442381 0.00073
NM_144508.5(KNL1):c.2268A>G (p.Ser756=) rs202012571 0.00073
NM_152564.5(VPS13B):c.10240T>C (p.Leu3414=) rs145279584 0.00073
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys) rs149478021 0.00073
NM_152783.5(D2HGDH):c.1140+8G>A rs369135156 0.00073
NM_000135.4(FANCA):c.4332T>G (p.Pro1444=) rs149531696 0.00072
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) rs138687850 0.00072
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu) rs139631202 0.00072
NM_002303.6(LEPR):c.594G>A (p.Val198=) rs140347630 0.00072
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=) rs149185385 0.00072
NM_017721.5(CC2D1A):c.2657G>A (p.Arg886His) rs201921029 0.00072
NM_019066.5(MAGEL2):c.2290G>A (p.Ala764Thr) rs201984254 0.00072
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=) rs139436386 0.00072
NM_173728.4(ARHGEF15):c.1260+4G>A rs199691980 0.00072
NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg) rs201667254 0.00072
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203 0.00071
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00071
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071 0.00071
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) rs147143094 0.00071
NM_001080449.3(DNA2):c.68C>T (p.Ala23Val) rs200467869 0.00071
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr) rs142906652 0.00071
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=) rs55838839 0.00071
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279 0.00071
NM_001374828.1(ARID1B):c.2548G>A (p.Ala850Thr) rs147784000 0.00071
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val) rs78102263 0.00071
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00071
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00071
NM_006060.6(IKZF1):c.157G>A (p.Val53Met) rs369417059 0.00071
NM_018136.5(ASPM):c.3189A>G (p.Leu1063=) rs146858888 0.00071
NM_018249.6(CDK5RAP2):c.5201A>G (p.Tyr1734Cys) rs150994426 0.00071
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser) rs149925563 0.00071
NM_025074.7(FRAS1):c.9296G>A (p.Arg3099Gln) rs149692526 0.00071
NM_152783.5(D2HGDH):c.1387G>A (p.Glu463Lys) rs143460342 0.00071
NM_182961.4(SYNE1):c.7647C>T (p.His2549=) rs113163375 0.00071
NM_001110792.2(MECP2):c.644C>T (p.Thr215Met) rs61749720 0.00070
NM_001128126.3(AP4S1):c.306+42G>A rs74807133 0.00070
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00070
NM_003896.4(ST3GAL5):c.1212G>A (p.Glu404=) rs148195895 0.00070
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_012216.4(MID2):c.1656T>C (p.Asp552=) rs150716868 0.00070
NM_013275.6(ANKRD11):c.2519G>A (p.Arg840Gln) rs149776253 0.00070
NM_018451.5(CENPJ):c.2806A>G (p.Ser936Gly) rs75008861 0.00070
NM_019066.5(MAGEL2):c.959C>A (p.Ala320Asp) rs541606785 0.00070
NM_021956.5(GRIK2):c.890C>G (p.Ser297Trp) rs61996330 0.00070
NM_025074.7(FRAS1):c.8574G>A (p.Lys2858=) rs201745281 0.00070
NM_025103.4(IFT74):c.1623+7A>C rs191860894 0.00070
NM_030665.4(RAI1):c.4039A>G (p.Lys1347Glu) rs34521483 0.00070
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile) rs138968608 0.00070
NM_152564.5(VPS13B):c.11495+6A>G rs116546060 0.00070
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_173560.4(RFX6):c.2553G>T (p.Gln851His) rs145117989 0.00070
NM_175914.5(HNF4A):c.426+6G>A rs182980547 0.00070
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=) rs140963147 0.00069
NM_001040142.2(SCN2A):c.5757C>T (p.Tyr1919=) rs140417984 0.00069
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764 0.00069
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=) rs184319249 0.00069
NM_001330078.2(NRXN1):c.1158+26A>T rs201802152 0.00069
NM_002303.6(LEPR):c.3479T>C (p.Met1160Thr) rs145685060 0.00069
NM_004380.3(CREBBP):c.383C>G (p.Ser128Cys) rs55790011 0.00069
NM_004407.4(DMP1):c.943G>C (p.Gly315Arg) rs149603030 0.00069
NM_006565.4(CTCF):c.1986C>G (p.Pro662=) rs148681672 0.00069
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=) rs148818431 0.00069
NM_007059.4(KPTN):c.733C>G (p.Leu245Val) rs201474471 0.00069
NM_017721.5(CC2D1A):c.2048G>A (p.Arg683Gln) rs201251295 0.00069
NM_022455.5(NSD1):c.1980C>T (p.Asn660=) rs140072393 0.00069
NM_025265.4(TSEN2):c.376C>T (p.Arg126Cys) rs151133206 0.00069
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=) rs4987050 0.00069
NM_032444.4(SLX4):c.4261A>T (p.Ile1421Phe) rs141567438 0.00069
NM_032531.4(KIRREL3):c.396C>T (p.Ala132=) rs35152573 0.00069
NM_032793.5(MFSD2A):c.630G>A (p.Thr210=) rs142303528 0.00069
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934 0.00069
NM_198994.3(TGM6):c.1025G>A (p.Arg342Gln) rs201645096 0.00069
NM_000245.4(MET):c.1039G>A (p.Ala347Thr) rs200074800 0.00068
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154 0.00068
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288 0.00068
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys) rs201816596 0.00068
NM_001987.5(ETV6):c.380G>A (p.Arg127Gln) rs140357643 0.00068
NM_002470.4(MYH3):c.875C>G (p.Ser292Cys) rs139480342 0.00068
NM_002472.3(MYH8):c.3532C>T (p.Arg1178Cys) rs142073810 0.00068
NM_002764.4(PRPS1):c.447G>A (p.Pro149=) rs80338730 0.00068
NM_003482.4(KMT2D):c.4525A>G (p.Ile1509Val) rs200943206 0.00068
NM_006015.6(ARID1A):c.162C>T (p.Ala54=) rs1001634270 0.00068
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=) rs372175239 0.00068
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln) rs149462407 0.00068
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=) rs78388808 0.00068
NM_015662.3(IFT172):c.899G>A (p.Arg300Gln) rs146332658 0.00068
NM_020975.6(RET):c.1465G>A (p.Asp489Asn) rs9282834 0.00068
NM_022552.5(DNMT3A):c.2151C>T (p.Asn717=) rs141216815 0.00068
NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro) rs115328064 0.00068
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly) rs147545395 0.00068
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_001083962.2(TCF4):c.1923G>A (p.Glu641=) rs76956936 0.00067
NM_001083962.2(TCF4):c.269A>G (p.Asn90Ser) rs143244149 0.00067
NM_001130438.3(SPTAN1):c.5478+12G>A rs41275900 0.00067
NM_001130438.3(SPTAN1):c.7309-15T>C rs370705867 0.00067
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086 0.00067
NM_004426.3(PHC1):c.2726G>A (p.Gly909Glu) rs141256799 0.00067
NM_004991.4(MECOM):c.2590G>A (p.Asp864Asn) rs75041628 0.00067
NM_006279.5(ST3GAL3):c.209+9918C>T rs113954699 0.00067
NM_016373.4(WWOX):c.807C>T (p.Asn269=) rs62034095 0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_139343.3(BIN1):c.30G>A (p.Thr10=) rs35535012 0.00067
NM_000057.4(BLM):c.2919C>T (p.Tyr973=) rs181161119 0.00066
NM_000179.3(MSH6):c.1665A>G (p.Ala555=) rs146785465 0.00066
NM_000426.4(LAMA2):c.6268+5G>C rs182064878 0.00066
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_001083961.2(WDR62):c.3612C>T (p.Gly1204=) rs139946168 0.00066
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val) rs147445499 0.00066
NM_001160372.4(TRAPPC9):c.2671A>C (p.Thr891Pro) rs562249191 0.00066
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799 0.00066
NM_002241.5(KCNJ10):c.615A>G (p.Lys205=) rs142228240 0.00066
NM_003072.5(SMARCA4):c.223-5C>T rs376775933 0.00066
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760 0.00066
NM_004153.4(ORC1):c.1318T>C (p.Ser440Pro) rs61756136 0.00066
NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp) rs138437966 0.00066
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_006031.6(PCNT):c.7332C>T (p.Thr2444=) rs150882711 0.00066
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg) rs55720177 0.00066
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740 0.00066
NM_013382.7(POMT2):c.1935C>T (p.Leu645=) rs141193672 0.00066
NM_014994.3(MAPKBP1):c.2519C>A (p.Ala840Glu) rs147620917 0.00066
NM_018136.5(ASPM):c.1007C>A (p.Thr336Lys) rs112113370 0.00066
NM_018136.5(ASPM):c.844A>C (p.Asn282His) rs113777932 0.00066
NM_018136.5(ASPM):c.905G>A (p.Cys302Tyr) rs77736715 0.00066
NM_018249.6(CDK5RAP2):c.55T>C (p.Cys19Arg) rs143766657 0.00066
NM_021814.5(ELOVL5):c.698A>G (p.Tyr233Cys) rs41273880 0.00066
NM_024649.5(BBS1):c.616T>G (p.Leu206Val) rs146052054 0.00066
NM_025265.4(TSEN2):c.1332A>G (p.Lys444=) rs113981920 0.00066
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val) rs142981643 0.00066
NM_031466.8(TRAPPC9):c.-11+6C>T rs376367358 0.00066
NM_144508.5(KNL1):c.251-9T>C rs371294019 0.00066
NM_144508.5(KNL1):c.5631C>T (p.Leu1877=) rs201853975 0.00066
NR_001566.1(TERC):n.-99C>G rs540289812 0.00066
NM_000426.4(LAMA2):c.2115T>G (p.Leu705=) rs149753273 0.00065
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_001110556.2(FLNA):c.3756G>A (p.Ala1252=) rs186619828 0.00065
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) rs200835571 0.00065
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027 0.00065
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=) rs146879902 0.00065
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_007294.4(BRCA1):c.4840C>T (p.Pro1614Ser) rs70953660 0.00065
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063 0.00065
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_032415.7(CARD11):c.3090C>T (p.Asn1030=) rs112241277 0.00065
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00064
NM_000208.4(INSR):c.2263C>T (p.Pro755Ser) rs148838377 0.00064
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714 0.00064
NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp) rs73036377 0.00064
NM_001374828.1(ARID1B):c.1191C>A (p.Gly397=) rs184815562 0.00064
NM_001377.3(DYNC2H1):c.5449A>G (p.Met1817Val) rs200208000 0.00064
NM_002397.5(MEF2C):c.811-12G>A rs149706617 0.00064
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_004360.5(CDH1):c.2520C>T (p.Ser840=) rs140328601 0.00064
NM_004826.4(ECEL1):c.2229-7A>C rs368488157 0.00064
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556 0.00064
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00064
NM_017721.5(CC2D1A):c.1448C>A (p.Pro483His) rs201884654 0.00064
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn) rs142864437 0.00064
NM_022552.5(DNMT3A):c.72+10G>A rs370534287 0.00064
NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn) rs201963605 0.00064
NM_032638.5(GATA2):c.121C>G (p.Pro41Ala) rs143590990 0.00064
NM_173560.4(RFX6):c.1927C>T (p.Pro643Ser) rs572059852 0.00064
NM_181303.2(NLGN3):c.807C>T (p.Ser269=) rs151276700 0.00064
NM_198252.3(GSN):c.-9-2000G>T rs369326886 0.00064
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu) rs141711342 0.00063
NM_000264.5(PTCH1):c.2913T>C (p.Tyr971=) rs2229062 0.00063
NM_000377.3(WAS):c.538C>A (p.His180Asn) rs145040665 0.00063
NM_000834.5(GRIN2B):c.3747C>T (p.Gly1249=) rs138771137 0.00063
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658 0.00063
NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys) rs149243307 0.00063
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=) rs374780430 0.00063
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys) rs56341835 0.00063
NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys) rs144291418 0.00063
NM_003482.4(KMT2D):c.15540G>C (p.Val5180=) rs149393179 0.00063
NM_005876.5(SPEG):c.3700C>T (p.Arg1234Trp) rs55916864 0.00063
NM_006059.4(LAMC3):c.2987G>A (p.Arg996His) rs113785045 0.00063
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly) rs141619382 0.00063
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) rs138817389 0.00063
NM_016734.3(PAX5):c.638C>T (p.Ser213Leu) rs137870876 0.00063
NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr) rs184758350 0.00063
NM_019066.5(MAGEL2):c.919C>T (p.Pro307Ser) rs555920534 0.00063
NM_020066.5(FMN2):c.4068T>C (p.Val1356=) rs141335669 0.00063
NM_198252.3(GSN):c.1663G>A (p.Val555Met) rs151208452 0.00063
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238 0.00062
NM_000135.4(FANCA):c.1537T>C (p.Leu513=) rs144118098 0.00062
NM_000249.4(MLH1):c.375A>G (p.Ala125=) rs1800144 0.00062
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val) rs200074974 0.00062
NM_002691.4(POLD1):c.455C>T (p.Ala152Val) rs41563714 0.00062
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_005228.5(EGFR):c.3467A>C (p.His1156Pro) rs149174093 0.00062
NM_005249.5(FOXG1):c.489C>T (p.Gly163=) rs375378714 0.00062
NM_017721.5(CC2D1A):c.1192G>A (p.Val398Met) rs201177183 0.00062
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met) rs201032343 0.00062
NM_020461.4(TUBGCP6):c.1193C>T (p.Ser398Leu) rs142435821 0.00062
NM_173495.3(PTCHD1):c.1332C>T (p.Val444=) rs138702144 0.00062
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) rs142704083 0.00061
NM_001032382.2(PQBP1):c.*6C>T rs181088115 0.00061
NM_001130438.3(SPTAN1):c.7161-9C>T rs187613754 0.00061
NM_001244008.2(KIF1A):c.4749C>T (p.Ser1583=) rs371737085 0.00061
NM_001254.4(CDC6):c.640C>T (p.Arg214Trp) rs147186134 0.00061
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg) rs190636272 0.00061
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_001267550.2(TTN):c.75738A>G (p.Glu25246=) rs371344165 0.00061
NM_001330260.2(SCN8A):c.2371-6A>G rs187002252 0.00061
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_001807.6(CEL):c.54G>A (p.Ala18=) rs539606155 0.00061
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val) rs142851023 0.00061
NM_006565.4(CTCF):c.2139C>T (p.Asn713=) rs146712579 0.00061
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=) rs142459158 0.00061
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile) rs142299878 0.00061
NM_014264.5(PLK4):c.1830+7C>G rs367752526 0.00061
NM_018062.4(FANCL):c.203G>C (p.Arg68Pro) rs143819820 0.00061
NM_020717.5(SHROOM4):c.3944T>C (p.Ile1315Thr) rs149300669 0.00061
NM_030632.3(ASXL3):c.2731G>A (p.Val911Met) rs201107680 0.00061
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374 0.00061
NM_173560.4(RFX6):c.2438G>C (p.Arg813Thr) rs142162854 0.00061
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00061
NM_199334.5(THRA):c.577-4C>T rs188965373 0.00061
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150 0.00060
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00060
NM_001109809.5(ZFP57):c.113G>A (p.Arg38Gln) rs142917604 0.00060
NM_001110556.2(FLNA):c.3876C>T (p.His1292=) rs199917719 0.00060
NM_001415.4(EIF2S3):c.133+8T>C rs377239918 0.00060
NM_002691.4(POLD1):c.883G>A (p.Val295Met) rs199545019 0.00060
NM_006015.6(ARID1A):c.3762C>T (p.Gly1254=) rs138814830 0.00060
NM_006031.6(PCNT):c.5815C>T (p.Arg1939Trp) rs575313866 0.00060
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_017780.4(CHD7):c.2835+8T>C rs202141372 0.00060
NM_018026.4(PACS1):c.2139C>T (p.Tyr713=) rs61736585 0.00060
NM_024301.5(FKRP):c.636G>A (p.Ala212=) rs370099812 0.00060
NM_024596.5(MCPH1):c.1480G>A (p.Ala494Thr) rs183880522 0.00060
NM_030665.4(RAI1):c.4676G>A (p.Arg1559Gln) rs141317462 0.00060
NM_152703.5(SAMD9L):c.368C>T (p.Pro123Leu) rs148147724 0.00060
NM_000059.4(BRCA2):c.4071A>C (p.Leu1357=) rs140556653 0.00059
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_000445.5(PLEC):c.133G>A (p.Gly45Ser) rs201820569 0.00059
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_001004320.2(AGMO):c.1263+8del rs770368536 0.00059
NM_001042492.3(NF1):c.7410T>C (p.Asn2470=) rs17881903 0.00059
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517 0.00059
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) rs77705198 0.00059
NM_001330078.2(NRXN1):c.105C>A (p.Gly35=) rs55640811 0.00059
NM_001349338.3(FOXP1):c.1890-5T>C rs187666567 0.00059
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480 0.00059
NM_001987.5(ETV6):c.885C>T (p.Asp295=) rs140005721 0.00059
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala) rs146989944 0.00059
NM_002485.5(NBN):c.788T>C (p.Phe263Ser) rs147626427 0.00059
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222 0.00059
NM_006031.6(PCNT):c.6151-9C>T rs200571944 0.00059
NM_006420.3(ARFGEF2):c.1185C>T (p.Asp395=) rs140378669 0.00059
NM_006772.3(SYNGAP1):c.1935T>C (p.Phe645=) rs145406441 0.00059
NM_006772.3(SYNGAP1):c.3324C>T (p.Ser1108=) rs139841529 0.00059
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro) rs56119278 0.00059
NM_007327.4(GRIN1):c.768G>C (p.Gly256=) rs141473515 0.00059
NM_015634.4(KIFBP):c.78A>G (p.Lys26=) rs144067344 0.00059
NM_018100.4(EFHC1):c.90G>A (p.Thr30=) rs140429638 0.00059
NM_018136.5(ASPM):c.8449G>T (p.Ala2817Ser) rs117963393 0.00059
NM_018249.6(CDK5RAP2):c.2289C>T (p.His763=) rs36001459 0.00059
NM_025243.4(SLC19A3):c.187T>C (p.Tyr63His) rs144817990 0.00059
NM_030632.3(ASXL3):c.1707C>T (p.Thr569=) rs371181408 0.00059
NM_032806.6(POMGNT2):c.561C>T (p.His187=) rs147429438 0.00059
NM_177438.3(DICER1):c.5203C>T (p.Leu1735=) rs188609628 0.00059
NM_000022.4(ADA):c.606+10G>A rs201045221 0.00058
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val) rs139781067 0.00058
NM_000179.3(MSH6):c.1869C>T (p.Pro623=) rs141242295 0.00058
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly) rs147671523 0.00058
NM_000208.4(INSR):c.2295C>T (p.Gly765=) rs142654992 0.00058
NM_000552.5(VWF):c.1329C>T (p.Ser443=) rs142404899 0.00058
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile) rs140162759 0.00058
NM_001017420.3(ESCO2):c.929A>T (p.Glu310Val) rs145734811 0.00058
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile) rs72558029 0.00058
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00058
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431 0.00058
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile) rs200103997 0.00058
NM_001374828.1(ARID1B):c.1534A>G (p.Met512Val) rs199948752 0.00058
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln) rs201673771 0.00058
NM_003383.5(VLDLR):c.468C>T (p.Pro156=) rs2242105 0.00058
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=) rs145756629 0.00058
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys) rs149127230 0.00058
NM_004830.4(MED23):c.2034A>G (p.Ala678=) rs143184324 0.00058
NM_005068.3(SIM1):c.2119G>C (p.Asp707His) rs74726213 0.00058
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233 0.00058
NM_015634.4(KIFBP):c.1399C>T (p.Leu467=) rs142011043 0.00058
NM_020987.5(ANK3):c.4826C>T (p.Thr1609Met) rs148024054 0.00058
NM_033022.4(RPS24):c.-4C>T rs370476367 0.00058
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584 0.00057
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00057
NM_000540.3(RYR1):c.2091C>T (p.Ala697=) rs138704724 0.00057
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys) rs191482653 0.00057
NM_003482.4(KMT2D):c.1965C>A (p.Pro655=) rs200939188 0.00057
NM_004064.5(CDKN1B):c.356T>C (p.Ile119Thr) rs142833529 0.00057
NM_004360.5(CDH1):c.2439+10C>T rs35236080 0.00057
NM_005445.4(SMC3):c.1280A>G (p.Lys427Arg) rs142524280 0.00057
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys) rs71524353 0.00057
NM_013275.6(ANKRD11):c.2240C>T (p.Ser747Leu) rs138898373 0.00057
NM_014444.5(TUBGCP4):c.967G>T (p.Val323Leu) rs191224065 0.00057
NM_032237.5(POMK):c.565A>G (p.Ile189Val) rs149297443 0.00057
NM_032793.5(MFSD2A):c.942C>T (p.Asn314=) rs147123833 0.00057
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) rs138828590 0.00056
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061 0.00056
NM_000059.4(BRCA2):c.2145A>G (p.Gly715=) rs112566179 0.00056
NM_000426.4(LAMA2):c.7300+10T>A rs200469923 0.00056
NM_000987.5(RPL26):c.128A>G (p.Asn43Ser) rs149055327 0.00056
NM_001012339.3(DNAJC21):c.370G>C (p.Glu124Gln) rs139629564 0.00056
NM_001029.5(RPS26):c.-3A>G rs181174349 0.00056
NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=) rs201488545 0.00056
NM_001160372.4(TRAPPC9):c.3175G>A (p.Ala1059Thr) rs150200902 0.00056
NM_001267550.2(TTN):c.71841G>C (p.Lys23947Asn) rs56019808 0.00056
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) rs199692186 0.00056
NM_003108.4(SOX11):c.709C>G (p.Leu237Val) rs140772793 0.00056
NM_003482.4(KMT2D):c.11886A>G (p.Gln3962=) rs180784366 0.00056
NM_004153.4(ORC1):c.1581A>G (p.Gly527=) rs141066689 0.00056
NM_004168.4(SDHA):c.550G>A (p.Gly184Arg) rs148246073 0.00056
NM_005068.3(SIM1):c.282G>A (p.Val94=) rs141603696 0.00056
NM_005491.5(MAMLD1):c.1699C>T (p.Pro567Ser) rs146443503 0.00056
NM_006031.6(PCNT):c.2866G>A (p.Asp956Asn) rs146728385 0.00056
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp) rs117173425 0.00056
NM_015166.4(MLC1):c.1053T>C (p.Ala351=) rs11568190 0.00056
NM_015175.3(NBEAL2):c.6352G>A (p.Val2118Ile) rs146270553 0.00056
NM_018136.5(ASPM):c.9676T>G (p.Cys3226Gly) rs142901223 0.00056
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met) rs144938364 0.00056
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly) rs201354264 0.00056
NM_030632.3(ASXL3):c.5001T>G (p.Pro1667=) rs377152896 0.00056
NM_032531.4(KIRREL3):c.908T>C (p.Val303Ala) rs201725914 0.00056
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val) rs147612089 0.00056
NM_138711.6(PPARG):c.348T>C (p.Ala116=) rs147975759 0.00056
NM_181507.2(HPS5):c.3229C>T (p.Arg1077Trp) rs75482179 0.00056
NM_000152.5(GAA):c.858+8G>A rs5822325 0.00055
NM_001008537.3(NEXMIF):c.4509T>C (p.Pro1503=) rs41303725 0.00055
NM_001134407.3(GRIN2A):c.3190A>G (p.Thr1064Ala) rs138809301 0.00055
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys) rs72646859 0.00055
NM_001614.5(ACTG1):c.228C>T (p.Val76=) rs143028649 0.00055
NM_004525.3(LRP2):c.10165A>G (p.Ile3389Val) rs140272085 0.00055
NM_004972.4(JAK2):c.2538G>C (p.Glu846Asp) rs150221602 0.00055
NM_005045.4(RELN):c.7644G>A (p.Ser2548=) rs150743664 0.00055
NM_014009.4(FOXP3):c.155G>T (p.Gly52Val) rs17847095 0.00055
NM_020461.4(TUBGCP6):c.1026G>A (p.Pro342=) rs141805017 0.00055
NM_020822.3(KCNT1):c.2619C>T (p.Gly873=) rs144659358 0.00055
NM_181303.2(NLGN3):c.603C>G (p.Pro201=) rs35794236 0.00055
NM_000038.6(APC):c.2476T>G (p.Leu826Val) rs145245264 0.00054
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met) rs139779505 0.00054
NM_000553.6(WRN):c.3453G>A (p.Glu1151=) rs144116311 0.00054
NM_001040142.2(SCN2A):c.2388+9C>A rs191955969 0.00054
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_001267550.2(TTN):c.63876C>T (p.Asn21292=) rs199598302 0.00054
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=) rs144562471 0.00054
NM_002291.3(LAMB1):c.3038G>A (p.Arg1013Gln) rs141390544 0.00054
NM_003000.3(SDHB):c.21C>T (p.Leu7=) rs147815442 0.00054
NM_005045.4(RELN):c.6939T>C (p.Ile2313=) rs113498433 0.00054
NM_006949.4(STXBP2):c.1569G>A (p.Lys523=) rs148868283 0.00054
NM_007294.4(BRCA1):c.301+8T>C rs80358101 0.00054
NM_012309.5(SHANK2):c.4272C>T (p.Pro1424=) rs147305649 0.00054
NM_014008.5(CCDC22):c.962G>A (p.Arg321Gln) rs140735182 0.00054
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449 0.00054
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_022455.5(NSD1):c.4473G>T (p.Ser1491=) rs150920473 0.00054
NM_023067.4(FOXL2):c.1071T>C (p.His357=) rs146709691 0.00054
NM_024753.5(TTC21B):c.3797C>T (p.Pro1266Leu) rs140384742 0.00054
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His) rs149163661 0.00054
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile) rs139170018 0.00054
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000059.4(BRCA2):c.7435+6G>A rs81002852 0.00053
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=) rs1800346 0.00053
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=) rs63750330 0.00053
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_001012339.3(DNAJC21):c.1315G>A (p.Glu439Lys) rs115834468 0.00053
NM_001082486.2(ACD):c.22G>A (p.Val8Ile) rs149365469 0.00053
NM_001083961.2(WDR62):c.4564G>A (p.Gly1522Arg) rs142600079 0.00053
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile) rs144722432 0.00053
NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu) rs145005596 0.00053
NM_001330078.2(NRXN1):c.4167C>G (p.Pro1389=) rs143446587 0.00053
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln) rs137964936 0.00053
NM_002691.4(POLD1):c.1665C>T (p.Val555=) rs150238541 0.00053
NM_003383.5(VLDLR):c.1643A>G (p.Lys548Arg) rs148487944 0.00053
NM_004722.4(AP4M1):c.930G>A (p.Arg310=) rs141754568 0.00053
NM_015922.3(NSDHL):c.356G>A (p.Arg119Lys) rs200930841 0.00053
NM_017668.3(NDE1):c.872C>T (p.Ser291Phe) rs146284370 0.00053
NM_024306.5(FA2H):c.337C>T (p.Arg113Trp) rs141276237 0.00053
NM_031407.7(HUWE1):c.8298A>G (p.Gln2766=) rs202214456 0.00053
NM_138425.4(C12orf57):c.-4C>T rs377078607 0.00053
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala) rs138930771 0.00053
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_174916.3(UBR1):c.3290C>T (p.Thr1097Met) rs142285781 0.00053
NM_181303.2(NLGN3):c.594T>C (p.Gly198=) rs144247281 0.00053
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe) rs61753526 0.00053
NM_201525.4(ADGRG1):c.612C>T (p.Pro204=) rs147495708 0.00053
NM_000032.5(ALAS2):c.653G>A (p.Arg218His) rs185504937 0.00052
NM_000349.3(STAR):c.177C>T (p.Leu59=) rs142910480 0.00052
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn) rs201177696 0.00052
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=) rs140936904 0.00052
NM_000553.6(WRN):c.3422C>T (p.Ser1141Leu) rs139323683 0.00052
NM_001098511.3(KIF2A):c.48G>A (p.Glu16=) rs533812435 0.00052
NM_002472.3(MYH8):c.578G>A (p.Arg193His) rs145863180 0.00052
NM_003482.4(KMT2D):c.10824A>G (p.Gln3608=) rs189571290 0.00052
NM_006031.6(PCNT):c.5855C>T (p.Ala1952Val) rs370664761 0.00052
NM_006420.3(ARFGEF2):c.3275G>A (p.Arg1092His) rs151045115 0.00052
NM_014915.3(ANKRD26):c.945A>G (p.Gln315=) rs200199151 0.00052
NM_017777.4(MKS1):c.874A>G (p.Lys292Glu) rs201845569 0.00052
NM_018249.6(CDK5RAP2):c.2294C>G (p.Pro765Arg) rs139706626 0.00052
NM_022436.3(ABCG5):c.1806C>T (p.Phe602=) rs150716811 0.00052
NM_022455.5(NSD1):c.3000C>T (p.Ser1000=) rs150854966 0.00052
NM_025074.7(FRAS1):c.6939C>T (p.Pro2313=) rs150936204 0.00052
NM_025077.4(TOE1):c.196-3C>T rs200821819 0.00052
NM_000038.6(APC):c.3963C>T (p.Ser1321=) rs150595875 0.00051
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_000057.4(BLM):c.465T>C (p.Asp155=) rs185349681 0.00051
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366 0.00051
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000381.4(MID1):c.1489C>T (p.Leu497=) rs138629923 0.00051
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_001009944.3(PKD1):c.6979C>T (p.Arg2327Trp) rs184394342 0.00051
NM_001040616.3(LINS1):c.864C>T (p.Thr288=) rs150775570 0.00051
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00051
NM_001077446.4(TSEN34):c.394G>A (p.Gly132Arg) rs201506921 0.00051
NM_001164508.2(NEB):c.3468C>T (p.Val1156=) rs373258662 0.00051
NM_001267550.2(TTN):c.21404-4A>G rs72648965 0.00051
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) rs180975448 0.00051
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=) rs201727684 0.00051
NM_001458.5(FLNC):c.3757G>A (p.Val1253Ile) rs117366477 0.00051
NM_002875.5(RAD51):c.164C>T (p.Ala55Val) rs145617142 0.00051
NM_003072.5(SMARCA4):c.2967C>T (p.Pro989=) rs149874634 0.00051
NM_003383.5(VLDLR):c.2371G>A (p.Val791Ile) rs35334949 0.00051
NM_003384.3(VRK1):c.858G>T (p.Met286Ile) rs139476915 0.00051
NM_003482.4(KMT2D):c.9547G>C (p.Ala3183Pro) rs200429063 0.00051
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_006180.6(NTRK2):c.31G>T (p.Ala11Ser) rs78936193 0.00051
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_007327.4(GRIN1):c.1513C>T (p.Leu505=) rs139637382 0.00051
NM_020461.4(TUBGCP6):c.1539C>T (p.Cys513=) rs149982006 0.00051
NM_022437.3(ABCG8):c.1839T>C (p.Tyr613=) rs147582834 0.00051
NM_030632.3(ASXL3):c.1454A>G (p.Asn485Ser) rs151027205 0.00051
NM_032043.3(BRIP1):c.1935+11G>A rs79121306 0.00051
NM_032531.4(KIRREL3):c.870C>A (p.Ile290=) rs200243864 0.00051
NM_152703.5(SAMD9L):c.4462G>A (p.Val1488Ile) rs139478067 0.00051
NM_000142.5(FGFR3):c.1023G>A (p.Ala341=) rs147833498 0.00050
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=) rs2285895 0.00050
NM_001128126.3(AP4S1):c.306+4283C>T rs143795469 0.00050
NM_003383.5(VLDLR):c.1313G>A (p.Gly438Asp) rs200605669 0.00050
NM_004484.4(GPC3):c.660C>T (p.Ser220=) rs138450923 0.00050
NM_004656.4(BAP1):c.501G>A (p.Ala167=) rs148631953 0.00050
NM_005045.4(RELN):c.1386C>T (p.Cys462=) rs139321058 0.00050
NM_005359.6(SMAD4):c.880A>G (p.Met294Val) rs7238500 0.00050
NM_014467.3(SRPX2):c.1293C>T (p.Tyr431=) rs138091242 0.00050
NM_020987.5(ANK3):c.315+10A>G rs202079424 0.00050
NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn) rs144047610 0.00050
NM_031407.7(HUWE1):c.654T>C (p.Ser218=) rs148129382 0.00050
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met) rs150783688 0.00050
NM_152703.5(SAMD9L):c.4383A>C (p.Gly1461=) rs139201196 0.00050
NM_000231.3(SGCG):c.832G>A (p.Gly278Ser) rs147820869 0.00049
NM_000352.6(ABCC8):c.3867+7G>A rs372198547 0.00049
NM_001113525.2(ZNF276):c.*470A>C rs372268907 0.00049
NM_001267550.2(TTN):c.31806C>T (p.Pro10602=) rs370080995 0.00049
NM_001330260.2(SCN8A):c.4155A>C (p.Thr1385=) rs144424662 0.00049
NM_001376.5(DYNC1H1):c.1173A>G (p.Gln391=) rs17540735 0.00049
NM_003002.4(SDHD):c.278A>G (p.Tyr93Cys) rs142135772 0.00049
NM_003361.4(UMOD):c.1464C>T (p.Gly488=) rs141912637 0.00049
NM_004168.4(SDHA):c.723C>T (p.Asp241=) rs146653693 0.00049
NM_004525.3(LRP2):c.13610A>C (p.Gln4537Pro) rs188918037 0.00049
NM_005373.3(MPL):c.1336G>A (p.Gly446Arg) rs561818288 0.00049
NM_005886.3(KATNB1):c.1046+9C>G rs372112294 0.00049
NM_006642.5(SDCCAG8):c.547-4T>G rs12080579 0.00049
NM_019066.5(MAGEL2):c.1404C>A (p.Ala468=) rs2233064 0.00049
NM_024824.5(ZC3H14):c.2130G>A (p.Pro710=) rs149865117 0.00049
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838 0.00048
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745 0.00048
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=) rs80359810 0.00048
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val) rs61753269 0.00048
NM_000179.3(MSH6):c.2667G>T (p.Gln889His) rs149945495 0.00048
NM_000208.4(INSR):c.1584G>A (p.Leu528=) rs145334760 0.00048
NM_000208.4(INSR):c.2573C>T (p.Thr858Met) rs201466857 0.00048
NM_000275.3(OCA2):c.954G>A (p.Met318Ile) rs529219961 0.00048
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp) rs115670442 0.00048
NM_001082538.3(TCTN1):c.1563C>T (p.Tyr521=) rs368907353 0.00048
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_001330288.2(SMARCC2):c.1158A>G (p.Glu386=) rs34308410 0.00048
NM_001368397.1(FRMPD4):c.1218G>A (p.Lys406=) rs140428359 0.00048
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala) rs200054604 0.00048
NM_001378778.1(MPDZ):c.2914C>T (p.Pro972Ser) rs186662317 0.00048
NM_001429.4(EP300):c.3105C>T (p.Thr1035=) rs150498069 0.00048
NM_001458.5(FLNC):c.5592C>T (p.Ala1864=) rs117517372 0.00048
NM_001626.6(AKT2):c.960+3G>A rs56165898 0.00048
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_003184.4(TAF2):c.3320T>G (p.Leu1107Arg) rs546468025 0.00048
NM_004268.5(MED17):c.1748G>A (p.Arg583His) rs548231700 0.00048
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00048
NM_006005.3(WFS1):c.2424C>T (p.Ser808=) rs56035336 0.00048
NM_006947.4(SRP72):c.1589T>C (p.Ile530Thr) rs192401229 0.00048
NM_012156.2(EPB41L1):c.1934G>A (p.Arg645Gln) rs78442416 0.00048
NM_014008.5(CCDC22):c.901T>C (p.Phe301Leu) rs147674513 0.00048
NM_020461.4(TUBGCP6):c.5052C>T (p.Ile1684=) rs139368772 0.00048
NM_022489.4(INF2):c.1144A>G (p.Ser382Gly) rs201077878 0.00048
NM_022725.4(FANCF):c.241G>T (p.Ala81Ser) rs145057187 0.00048
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523 0.00048
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln) rs201891953 0.00048
NM_030962.4(SBF2):c.5037C>T (p.Arg1679=) rs200784979 0.00048
NM_032043.3(BRIP1):c.317G>A (p.Arg106His) rs143615668 0.00048
NM_133433.4(NIPBL):c.1212C>T (p.Pro404=) rs80358349 0.00048
NM_133433.4(NIPBL):c.615G>A (p.Ser205=) rs150678035 0.00048
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg) rs139278612 0.00048
NM_173495.3(PTCHD1):c.1494C>T (p.Thr498=) rs138676073 0.00048
NM_198253.3(TERT):c.2130+10G>A rs373879259 0.00048
NM_000059.4(BRCA2):c.9843A>G (p.Pro3281=) rs11571832 0.00047
NM_000081.4(LYST):c.9017A>G (p.Lys3006Arg) rs140934482 0.00047
NM_000455.5(STK11):c.1185A>G (p.Thr395=) rs370207155 0.00047
NM_001009944.3(PKD1):c.6078C>T (p.Val2026=) rs147253810 0.00047
NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr) rs200161949 0.00047
NM_001174150.2(ARL13B):c.690-5G>A rs373173586 0.00047
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_003482.4(KMT2D):c.1149C>T (p.Asp383=) rs201709328 0.00047
NM_004523.4(KIF11):c.2775G>A (p.Thr925=) rs138462002 0.00047
NM_004972.4(JAK2):c.1711G>A (p.Gly571Ser) rs139504737 0.00047
NM_006231.4(POLE):c.5659G>A (p.Val1887Met) rs114119067 0.00047
NM_006565.4(CTCF):c.1887C>T (p.Ala629=) rs149766428 0.00047
NM_007254.4(PNKP):c.188C>T (p.Ala63Val) rs3739173 0.00047
NM_014159.7(SETD2):c.1885A>G (p.Lys629Glu) rs145650484 0.00047
NM_020937.4(FANCM):c.3681A>G (p.Leu1227=) rs61749475 0.00047
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483 0.00047
NM_181507.2(HPS5):c.2866T>C (p.Tyr956His) rs147430035 0.00047
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687 0.00046
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876 0.00046
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999 0.00046
NM_000489.6(ATRX):c.4120+4A>C rs200420513 0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000548.5(TSC2):c.1839+6G>A rs45517204 0.00046
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322 0.00046
NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=) rs372265042 0.00046
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=) rs146979083 0.00046
NM_001130438.3(SPTAN1):c.3912C>T (p.Pro1304=) rs143844598 0.00046
NM_001197104.2(KMT2A):c.1810A>G (p.Met604Val) rs150328852 0.00046
NM_001267550.2(TTN):c.47955A>G (p.Pro15985=) rs192953152 0.00046
NM_001267550.2(TTN):c.88028G>A (p.Arg29343His) rs73036368 0.00046
NM_001273.5(CHD4):c.101-5T>A rs201854884 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_001376.5(DYNC1H1):c.4509C>T (p.Ser1503=) rs116089522 0.00046
NM_001376.5(DYNC1H1):c.6762C>T (p.Ile2254=) rs150603103 0.00046
NM_002025.4(AFF2):c.3088A>C (p.Ile1030Leu) rs149653283 0.00046
NM_002691.4(POLD1):c.2103C>T (p.Tyr701=) rs201483538 0.00046
NM_003383.5(VLDLR):c.71C>A (p.Ala24Asp) rs754340855 0.00046
NM_004369.4(COL6A3):c.3680-5C>T rs370146203 0.00046
NM_005045.4(RELN):c.7114G>A (p.Val2372Met) rs114344654 0.00046
NM_006086.4(TUBB3):c.1287G>A (p.Thr429=) rs142238093 0.00046
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln) rs151273553 0.00046
NM_006420.3(ARFGEF2):c.4462A>T (p.Thr1488Ser) rs151221957 0.00046
NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=) rs199904356 0.00046
NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val) rs201869920 0.00046
NM_007254.4(PNKP):c.672C>T (p.Arg224=) rs151180981 0.00046
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892 0.00046
NM_014915.3(ANKRD26):c.4188T>C (p.Asp1396=) rs199589035 0.00046
NM_018026.4(PACS1):c.104A>C (p.Gln35Pro) rs369233658 0.00046
NM_018249.6(CDK5RAP2):c.4838G>A (p.Ser1613Asn) rs202075321 0.00046
NM_020699.4(GATAD2B):c.415A>G (p.Ser139Gly) rs150914014 0.00046
NM_020937.4(FANCM):c.4931G>A (p.Arg1644Gln) rs138151018 0.00046
NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu) rs199700538 0.00046
NM_030787.4(CFHR5):c.232T>C (p.Ser78Pro) rs146025130 0.00046
NM_207361.6(FREM2):c.2754C>T (p.Val918=) rs140353326 0.00046
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=) rs4987127 0.00045
NM_000222.3(KIT):c.200C>G (p.Thr67Ser) rs144933028 0.00045
NM_000230.3(LEP):c.15C>G (p.Thr5=) rs142904532 0.00045
NM_000834.5(GRIN2B):c.1851C>T (p.Ser617=) rs147373250 0.00045
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met) rs35110529 0.00045
NM_001429.4(EP300):c.6417C>T (p.Gly2139=) rs111315183 0.00045
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_002691.4(POLD1):c.653G>A (p.Arg218His) rs150010804 0.00045
NM_003467.3(CXCR4):c.157A>C (p.Ile53Leu) rs56400844 0.00045
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_004360.5(CDH1):c.1744C>T (p.Leu582=) rs1801025 0.00045
NM_006031.6(PCNT):c.979G>C (p.Glu327Gln) rs575720246 0.00045
NM_012156.2(EPB41L1):c.1539G>A (p.Glu513=) rs45588736 0.00045
NM_012233.3(RAB3GAP1):c.411C>T (p.Asp137=) rs140929274 0.00045
NM_175914.5(HNF4A):c.999C>T (p.Ile333=) rs150247632 0.00045
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_000249.4(MLH1):c.1410-10T>G rs372053184 0.00044
NM_000497.4(CYP11B1):c.1042G>A (p.Ala348Thr) rs6407 0.00044
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) rs201818223 0.00044
NM_001378454.1(ALMS1):c.4885C>T (p.Arg1629Trp) rs201874722 0.00044
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00044
NM_005357.4(LIPE):c.998G>A (p.Arg333Gln) rs112497256 0.00044
NM_006059.4(LAMC3):c.2238G>A (p.Ala746=) rs141918703 0.00044
NM_025009.5(CEP135):c.700-10A>G rs369136062 0.00044
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180 0.00043
NM_000168.6(GLI3):c.3829C>G (p.Gln1277Glu) rs146582871 0.00043
NM_000251.3(MSH2):c.1680T>C (p.Asn560=) rs200056411 0.00043
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_001040142.2(SCN2A):c.4257C>T (p.Ala1419=) rs141153302 0.00043
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=) rs150269172 0.00043
NM_001127208.3(TET2):c.2385C>T (p.Ser795=) rs112576862 0.00043
NM_001130969.3(NSMF):c.1401G>A (p.Gly467=) rs199663813 0.00043
NM_001267550.2(TTN):c.14911T>G (p.Cys4971Gly) rs537312655 0.00043
NM_003482.4(KMT2D):c.2052T>A (p.Pro684=) rs200116899 0.00043
NM_004655.4(AXIN2):c.733C>T (p.Pro245Ser) rs62640028 0.00043
NM_013382.7(POMT2):c.1404A>G (p.Lys468=) rs150491326 0.00043
NM_022437.3(ABCG8):c.97G>A (p.Asp33Asn) rs148456883 0.00043
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His) rs148312697 0.00043
NM_201384.3(PLEC):c.12615C>T (p.Ile4205=) rs202116866 0.00043
NM_000179.3(MSH6):c.3960A>G (p.Ala1320=) rs373425206 0.00042
NM_000186.4(CFH):c.2077G>A (p.Asp693Asn) rs148403790 0.00042
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu) rs148225281 0.00042
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_001110792.2(MECP2):c.885C>G (p.Ala295=) rs61750253 0.00042
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met) rs149300055 0.00042
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile) rs200529564 0.00042
NM_001987.5(ETV6):c.57T>C (p.Pro19=) rs147305258 0.00042
NM_004187.5(KDM5C):c.2726G>A (p.Arg909Gln) rs148661902 0.00042
NM_005732.4(RAD50):c.260G>A (p.Arg87His) rs374561375 0.00042
NM_006265.3(RAD21):c.1617A>G (p.Glu539=) rs138040512 0.00042
NM_007347.5(AP4E1):c.258T>C (p.Tyr86=) rs143624283 0.00042
NM_012310.5(KIF4A):c.2976+10T>A rs376405554 0.00042
NM_014915.3(ANKRD26):c.4916G>A (p.Arg1639Gln) rs184369322 0.00042
NM_022455.5(NSD1):c.3564G>C (p.Arg1188Ser) rs199814669 0.00042
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) rs121909633 0.00042
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp) rs61752456 0.00041
NM_001083961.2(WDR62):c.4159C>A (p.Leu1387Ile) rs147652186 0.00041
NM_001128840.3(CACNA1D):c.1378G>A (p.Gly460Ser) rs35874056 0.00041
NM_001267550.2(TTN):c.20743G>T (p.Ala6915Ser) rs201728165 0.00041
NM_001282225.2(ADA2):c.1467G>C (p.Glu489Asp) rs61738625 0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=) rs199550149 0.00041
NM_002519.3(NPAT):c.2548A>G (p.Ile850Val) rs140098074 0.00041
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn) rs145309168 0.00041
NM_004380.3(CREBBP):c.879G>A (p.Val293=) rs144344016 0.00041
NM_004958.4(MTOR):c.5653G>A (p.Val1885Ile) rs139043855 0.00041
NM_006005.3(WFS1):c.2202C>T (p.Leu734=) rs140427062 0.00041
NM_006015.6(ARID1A):c.4560C>T (p.Gly1520=) rs138023869 0.00041
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr) rs138962786 0.00041
NM_006031.6(PCNT):c.6761G>A (p.Cys2254Tyr) rs141635334 0.00041
NM_006231.4(POLE):c.1015G>A (p.Asp339Asn) rs149029910 0.00041
NM_007294.4(BRCA1):c.-106C>G rs527449526 0.00041
NM_013275.6(ANKRD11):c.5481C>G (p.Pro1827=) rs142469039 0.00041
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) rs121918363 0.00041
NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln) rs141440865 0.00041
NM_020461.4(TUBGCP6):c.161C>G (p.Thr54Ser) rs139974572 0.00041
NM_024685.4(BBS10):c.886G>A (p.Ala296Thr) rs150587582 0.00041
NM_024747.6(HPS6):c.2250G>A (p.Ser750=) rs139161525 0.00041
NM_030665.4(RAI1):c.1941C>T (p.Ser647=) rs140198185 0.00041
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_032444.4(SLX4):c.4494G>A (p.Leu1498=) rs146532299 0.00041
NM_152703.5(SAMD9L):c.2069G>A (p.Gly690Asp) rs147903234 0.00041
NM_175914.5(HNF4A):c.726G>A (p.Val242=) rs145280017 0.00041
NM_000032.5(ALAS2):c.828C>T (p.Cys276=) rs73214617 0.00040
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575 0.00040
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00040
NM_001184880.2(PCDH19):c.3439G>A (p.Val1147Ile) rs138771033 0.00040
NM_001206999.2(CIT):c.1706A>C (p.Asn569Thr) rs149250142 0.00040
NM_001303052.2(MYT1L):c.1410G>A (p.Pro470=) rs373769933 0.00040
NM_001378120.1(MBD5):c.471A>G (p.Thr157=) rs138433455 0.00040
NM_001754.5(RUNX1):c.1269C>T (p.Arg423=) rs544247912 0.00040
NM_001940.4(ATN1):c.1461A>G (p.Gln487=) rs150855426 0.00040
NM_003051.4(SLC16A1):c.1414G>A (p.Gly472Arg) rs72552271 0.00040
NM_003482.4(KMT2D):c.6235-6C>G rs373858319 0.00040
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=) rs201087979 0.00040
NM_005445.4(SMC3):c.2535+15T>G rs3818903 0.00040
NM_006231.4(POLE):c.2171C>T (p.Ala724Val) rs61734163 0.00040
NM_006734.4(HIVEP2):c.3957C>G (p.Ala1319=) rs190613471 0.00040
NM_007254.4(PNKP):c.627G>A (p.Glu209=) rs532550120 0.00040
NM_018013.4(SOBP):c.2268G>A (p.Lys756=) rs377096838 0.00040
NM_020699.4(GATAD2B):c.1020C>T (p.Ser340=) rs140272058 0.00040
NM_032531.4(KIRREL3):c.1395G>A (p.Ser465=) rs138978113 0.00040
NM_178012.5(TUBB2B):c.602G>C (p.Cys201Ser) rs201922441 0.00040
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe) rs17224367 0.00039
NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys) rs192317605 0.00039
NM_000465.4(BARD1):c.348T>C (p.His116=) rs139934362 0.00039
NM_000535.7(PMS2):c.1560G>A (p.Ala520=) rs201167814 0.00039
NM_000540.3(RYR1):c.12852CACGGCGGC[3] (p.4285TAA[3]) rs398123469 0.00039
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_000742.4(CHRNA2):c.1234G>A (p.Glu412Lys) rs141721605 0.00039
NM_001080517.3(SETD5):c.3944C>T (p.Thr1315Met) rs202179816 0.00039
NM_001126121.2(SLC25A19):c.750G>A (p.Glu250=) rs147904037 0.00039
NM_001130438.3(SPTAN1):c.5523C>T (p.Ile1841=) rs79569204 0.00039
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=) rs367622770 0.00039
NM_001276270.2(MBD4):c.1183+17A>G rs199597858 0.00039
NM_001305581.2(LRMDA):c.336C>T (p.Asn112=) rs199857233 0.00039
NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=) rs140777637 0.00039
NM_003924.4(PHOX2B):c.639C>G (p.Gly213=) rs17879258 0.00039
NM_004836.7(EIF2AK3):c.2532T>C (p.Ser844=) rs56094918 0.00039
NM_006306.4(SMC1A):c.2824C>T (p.Leu942=) rs139654605 0.00039
NM_006420.3(ARFGEF2):c.1233C>T (p.Leu411=) rs147617265 0.00039
NM_014915.3(ANKRD26):c.679C>T (p.Pro227Ser) rs201638257 0.00039
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val) rs144703991 0.00039
NM_020717.5(SHROOM4):c.1675G>A (p.Glu559Lys) rs151329289 0.00039
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_022095.4(ZNF335):c.2185A>T (p.Ile729Phe) rs190178539 0.00039
NM_152703.5(SAMD9L):c.384T>C (p.Asp128=) rs145025180 0.00039
NM_000051.4(ATM):c.6795C>T (p.Phe2265=) rs3218699 0.00038
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly) rs756883400 0.00038
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299 0.00038
NM_001008537.3(NEXMIF):c.2098G>C (p.Val700Leu) rs141776597 0.00038
NM_001128126.3(AP4S1):c.306+4191A>G rs200969079 0.00038
NM_001160372.4(TRAPPC9):c.2796C>T (p.Ala932=) rs145607512 0.00038
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=) rs192122222 0.00038
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999 0.00038
NM_001378120.1(MBD5):c.4401C>T (p.Val1467=) rs144957555 0.00038
NM_001848.3(COL6A1):c.349G>A (p.Val117Met) rs150686304 0.00038
NM_002519.3(NPAT):c.1232A>T (p.Glu411Val) rs201010866 0.00038
NM_002582.4(PARN):c.466G>T (p.Ala156Ser) rs200103366 0.00038
NM_002691.4(POLD1):c.13C>T (p.Arg5Trp) rs9282830 0.00038
NM_003072.5(SMARCA4):c.1791T>G (p.Pro597=) rs141806282 0.00038
NM_003482.4(KMT2D):c.7954A>C (p.Met2652Leu) rs147706410 0.00038
NM_003977.4(AIP):c.36G>A (p.Gly12=) rs79662690 0.00038
NM_004380.3(CREBBP):c.458C>T (p.Pro153Leu) rs146538907 0.00038
NM_006015.6(ARID1A):c.5076C>T (p.Asn1692=) rs149468118 0.00038
NM_006080.3(SEMA3A):c.1953G>A (p.Ala651=) rs144851761 0.00038
NM_016219.5(MAN1B1):c.1287C>T (p.His429=) rs145524720 0.00038
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437 0.00038
NM_030632.3(ASXL3):c.3162C>T (p.Leu1054=) rs369994676 0.00038
NM_032444.4(SLX4):c.231A>G (p.Gln77=) rs143279888 0.00038
NM_144628.4(TBC1D20):c.1143G>A (p.Ala381=) rs141648576 0.00038
NM_201384.3(PLEC):c.3733C>A (p.Arg1245=) rs367688739 0.00038
NM_000179.3(MSH6):c.1449G>T (p.Val483=) rs35590297 0.00037
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=) rs193922584 0.00037
NM_001012339.3(DNAJC21):c.222A>G (p.Lys74=) rs148637112 0.00037
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser) rs540805431 0.00037
NM_001083962.2(TCF4):c.504A>G (p.Val168=) rs370160994 0.00037
NM_001110792.2(MECP2):c.*14G>A rs199963992 0.00037
NM_001244008.2(KIF1A):c.4778C>T (p.Pro1593Leu) rs200902828 0.00037
NM_001353108.3(CEP63):c.1620G>A (p.Arg540=) rs140668390 0.00037
NM_001376.5(DYNC1H1):c.4296C>G (p.Gly1432=) rs150374820 0.00037
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=) rs117189734 0.00037
NM_001987.5(ETV6):c.496G>A (p.Val166Met) rs142603082 0.00037
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser) rs140825795 0.00037
NM_004933.3(CDH15):c.2146A>G (p.Asn716Asp) rs147397532 0.00037
NM_005219.5(DIAPH1):c.3574+10G>A rs200327015 0.00037
NM_014915.3(ANKRD26):c.4490T>A (p.Val1497Asp) rs149647444 0.00037
NM_018648.4(NOP10):c.55-9C>T rs72720799 0.00037
NM_020822.3(KCNT1):c.3340C>T (p.Arg1114Trp) rs370085077 0.00037
NM_024596.5(MCPH1):c.664T>C (p.Cys222Arg) rs41313952 0.00037
NM_031466.8(TRAPPC9):c.-135A>G rs148523016 0.00037
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=) rs140021654 0.00037
NM_172107.4(KCNQ2):c.795G>A (p.Ala265=) rs148654588 0.00037
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu) rs118203504 0.00036
NM_000545.8(HNF1A):c.336G>A (p.Pro112=) rs371365341 0.00036
NM_001017420.3(ESCO2):c.1548G>A (p.Thr516=) rs149917909 0.00036
NM_001247997.2(CLIP1):c.2571A>G (p.Lys857=) rs34177347 0.00036
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=) rs140942979 0.00036
NM_001374828.1(ARID1B):c.927C>T (p.Ala309=) rs1450163641 0.00036
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421 0.00036
NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His) rs200069356 0.00036
NM_003282.4(TNNI2):c.54G>C (p.Leu18=) rs181679318 0.00036
NM_003383.5(VLDLR):c.792C>T (p.Cys264=) rs141850403 0.00036
NM_004247.4(EFTUD2):c.1698C>T (p.Thr566=) rs187284437 0.00036
NM_004260.4(RECQL4):c.2426G>A (p.Gly809Glu) rs550469990 0.00036
NM_004958.4(MTOR):c.5501C>T (p.Thr1834Met) rs142403193 0.00036
NM_005188.4(CBL):c.12C>T (p.Asn4=) rs371567712 0.00036
NM_005188.4(CBL):c.2363G>A (p.Arg788Gln) rs150811339 0.00036
NM_005629.4(SLC6A8):c.1516G>A (p.Asp506Asn) rs201526436 0.00036
NM_014795.4(ZEB2):c.1276T>A (p.Leu426Ile) rs201881288 0.00036
NM_018136.5(ASPM):c.6702A>G (p.Gln2234=) rs142587742 0.00036
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011 0.00036
NM_020987.5(ANK3):c.6555G>T (p.Gln2185His) rs144465058 0.00036
NM_021008.4(DEAF1):c.855C>T (p.Cys285=) rs373861624 0.00036
NM_022437.3(ABCG8):c.1473A>G (p.Pro491=) rs146046068 0.00036
NM_024426.6(WT1):c.216G>T (p.Gln72His) rs5030135 0.00036
NM_030632.3(ASXL3):c.1890G>A (p.Gly630=) rs372179902 0.00036
NM_133433.4(NIPBL):c.198C>G (p.Val66=) rs146033170 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049 0.00035
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304 0.00035
NM_000208.4(INSR):c.151G>A (p.Glu51Lys) rs140852238 0.00035
NM_000222.3(KIT):c.821C>T (p.Thr274Met) rs138585275 0.00035
NM_000257.4(MYH7):c.2334C>T (p.Asp778=) rs2069544 0.00035
NM_000276.4(OCRL):c.954C>T (p.Arg318=) rs149646700 0.00035
NM_000540.3(RYR1):c.2658C>T (p.Ile886=) rs148094797 0.00035
NM_000545.8(HNF1A):c.1501+6C>T rs374306837 0.00035
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg) rs201991587 0.00035
NM_001083961.2(WDR62):c.2976G>A (p.Ser992=) rs757294519 0.00035
NM_001110792.2(MECP2):c.312A>G (p.Gly104=) rs140191561 0.00035
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=) rs146782397 0.00035
NM_001330078.2(NRXN1):c.4392T>C (p.His1464=) rs112536447 0.00035
NM_001376.5(DYNC1H1):c.4395+2C>T rs192594531 0.00035
NM_002168.4(IDH2):c.673G>A (p.Asp225Asn) rs142816010 0.00035
NM_004656.4(BAP1):c.1035G>C (p.Gly345=) rs369744075 0.00035
NM_005573.4(LMNB1):c.123C>T (p.Asp41=) rs576708983 0.00035
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr) rs143142641 0.00035
NM_014141.6(CNTNAP2):c.1140T>A (p.Ala380=) rs141439475 0.00035
NM_015836.4(WARS2):c.938A>T (p.Lys313Met) rs145867327 0.00035
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser) rs201319489 0.00035
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn) rs138000380 0.00035
NM_024596.5(MCPH1):c.1785T>C (p.Ser595=) rs146744659 0.00035
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_024989.4(PGAP1):c.2375A>G (p.Asn792Ser) rs36086547 0.00035
NM_194292.3(SASS6):c.1773-4T>G rs372605834 0.00035
NM_198253.3(TERT):c.2775C>T (p.His925=) rs34528119 0.00035
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041 0.00034
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00034
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) rs142777869 0.00034
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00034
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) rs61751446 0.00034
NM_001130004.2(ACTN1):c.580G>A (p.Gly194Arg) rs145918825 0.00034
NM_001160372.4(TRAPPC9):c.3356G>A (p.Arg1119Gln) rs145503551 0.00034
NM_001194998.2(CEP152):c.2681C>T (p.Ser894Phe) rs145138194 0.00034
NM_001244008.2(KIF1A):c.3468C>T (p.Ile1156=) rs201981364 0.00034
NM_001353108.3(CEP63):c.1596G>A (p.Gln532=) rs149211765 0.00034
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile) rs145475623 0.00034
NM_001715.3(BLK):c.879C>T (p.His293=) rs142623841 0.00034
NM_004456.5(EZH2):c.657T>C (p.Pro219=) rs148843424 0.00034
NM_006180.6(NTRK2):c.1195+9C>T rs201773066 0.00034
NM_006420.3(ARFGEF2):c.2815-7G>A rs187176143 0.00034
NM_007194.4(CHEK2):c.1176G>A (p.Ala392=) rs142692907 0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) rs200092283 0.00034
NM_016180.5(SLC45A2):c.1518C>T (p.Val506=) rs150473213 0.00034
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_024426.6(WT1):c.662-6C>A rs372418954 0.00034
NM_024747.6(HPS6):c.1060C>T (p.His354Tyr) rs149692177 0.00034
NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser) rs184814386 0.00034
NM_024757.5(EHMT1):c.271A>T (p.Ile91Leu) rs144949902 0.00034
NM_030632.3(ASXL3):c.1925C>T (p.Pro642Leu) rs189786599 0.00034
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys) rs143820618 0.00034
NM_145207.3(AFG2A):c.1616G>T (p.Arg539Met) rs74991481 0.00034
NM_152564.5(VPS13B):c.10521C>T (p.Tyr3507=) rs767239312 0.00034
NM_153033.5(KCTD7):c.273C>T (p.Ser91=) rs139585796 0.00034
NM_201384.3(PLEC):c.6162C>T (p.His2054=) rs563719398 0.00034
NM_000251.3(MSH2):c.2154A>G (p.Gln718=) rs63750810 0.00033
NM_000540.3(RYR1):c.1453A>G (p.Met485Val) rs147723844 0.00033
NM_001032221.6(STXBP1):c.250G>A (p.Val84Ile) rs34830702 0.00033
NM_001080517.3(SETD5):c.2006G>C (p.Gly669Ala) rs199595728 0.00033
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly) rs201057307 0.00033
NM_001999.4(FBN2):c.7205G>A (p.Arg2402His) rs148014419 0.00033
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414 0.00033
NM_005045.4(RELN):c.877G>A (p.Asp293Asn) rs200289289 0.00033
NM_005045.4(RELN):c.9825C>T (p.Ser3275=) rs149713137 0.00033
NM_006015.6(ARID1A):c.4779G>T (p.Arg1593=) rs140978841 0.00033
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr) rs767821521 0.00033
NM_017654.4(SAMD9):c.2845G>T (p.Ala949Ser) rs151038564 0.00033
NM_198252.3(GSN):c.1513G>A (p.Gly505Arg) rs58750568 0.00033
NM_000051.4(ATM):c.103C>A (p.Arg35=) rs55861249 0.00032
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00032
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945 0.00032
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701 0.00032
NM_000141.5(FGFR2):c.1986+7C>T rs199697707 0.00032
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val) rs63750252 0.00032
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00032
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423 0.00032
NM_001161352.2(KCNMA1):c.90C>T (p.His30=) rs75040504 0.00032
NM_001195553.2(DCX):c.856G>T (p.Ala286Ser) rs149495971 0.00032
NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=) rs200728478 0.00032
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094 0.00032
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile) rs373211307 0.00032
NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys) rs143396225 0.00032
NM_005045.4(RELN):c.5095G>A (p.Glu1699Lys) rs147657490 0.00032
NM_005359.6(SMAD4):c.102A>G (p.Thr34=) rs146104321 0.00032
NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr) rs374163604 0.00032
NM_006031.6(PCNT):c.506G>A (p.Arg169His) rs61735823 0.00032
NM_006031.6(PCNT):c.7118G>A (p.Gly2373Glu) rs147670568 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) rs587780890 0.00032
NM_015202.5(KATNIP):c.1730G>A (p.Trp577Ter) rs200353633 0.00032
NM_016222.4(DDX41):c.6G>T (p.Glu2Asp) rs138435584 0.00032
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser) rs191613017 0.00032
NM_173495.3(PTCHD1):c.336C>T (p.Thr112=) rs369975097 0.00032
NM_198525.3(KIF7):c.516G>A (p.Glu172=) rs199959946 0.00032
NM_000038.6(APC):c.4905G>A (p.Gly1635=) rs137988845 0.00031
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008 0.00031
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_000233.4(LHCGR):c.161+9A>G rs573699597 0.00031
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_000551.3(VHL):c.-73C>T rs1034934219 0.00031
NM_001083961.2(WDR62):c.2211-8C>T rs369077520 0.00031
NM_001110556.2(FLNA):c.1691+7C>A rs199565118 0.00031
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile) rs146000949 0.00031
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_004369.4(COL6A3):c.776C>T (p.Ala259Val) rs149924028 0.00031
NM_004523.4(KIF11):c.77+5G>C rs200188195 0.00031
NM_004656.4(BAP1):c.1962A>C (p.Val654=) rs148624125 0.00031
NM_005188.4(CBL):c.1287C>T (p.Ile429=) rs148368481 0.00031
NM_005228.5(EGFR):c.241-8C>G rs138872748 0.00031
NM_006015.6(ARID1A):c.4053C>T (p.Gly1351=) rs200122106 0.00031
NM_006420.3(ARFGEF2):c.756C>T (p.Asn252=) rs114729625 0.00031
NM_006949.4(STXBP2):c.497C>T (p.Thr166Met) rs181216956 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_012301.4(MAGI2):c.2131C>A (p.Pro711Thr) rs144078604 0.00031
NM_014159.7(SETD2):c.5900G>A (p.Gly1967Asp) rs143991928 0.00031
NM_014444.5(TUBGCP4):c.368A>G (p.Asn123Ser) rs188822226 0.00031
NM_014915.3(ANKRD26):c.599A>G (p.Lys200Arg) rs150623081 0.00031
NM_017654.4(SAMD9):c.2374G>A (p.Val792Ile) rs147587391 0.00031
NM_018136.5(ASPM):c.3772G>A (p.Ala1258Thr) rs142214506 0.00031
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_025099.6(CTC1):c.1207-4C>T rs369904656 0.00031
NM_032444.4(SLX4):c.3368C>A (p.Ser1123Tyr) rs144647122 0.00031
NM_000032.5(ALAS2):c.373A>G (p.Ile125Val) rs143995220 0.00030
NM_000051.4(ATM):c.7044G>A (p.Thr2348=) rs140104789 0.00030
NM_001008537.3(NEXMIF):c.133G>A (p.Ala45Thr) rs199960807 0.00030
NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr) rs192423622 0.00030
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122 0.00030
NM_001110556.2(FLNA):c.861C>T (p.Tyr287=) rs375503410 0.00030
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys) rs141525226 0.00030
NM_002691.4(POLD1):c.714G>A (p.Thr238=) rs149096523 0.00030
NM_002834.5(PTPN11):c.643-6dup rs758889732 0.00030
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504 0.00030
NM_005249.5(FOXG1):c.245C>A (p.Pro82Gln) rs796052453 0.00030
NM_006231.4(POLE):c.6795C>T (p.Tyr2265=) rs142222159 0.00030
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994 0.00030
NM_014832.5(TBC1D4):c.713A>C (p.Lys238Thr) rs200446215 0.00030
NM_020987.5(ANK3):c.2173G>A (p.Ala725Thr) rs144051466 0.00030
NM_024824.5(ZC3H14):c.1432G>A (p.Val478Ile) rs143129413 0.00030
NM_030928.4(CDT1):c.855G>A (p.Gln285=) rs142859474 0.00030
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=) rs141637316 0.00030
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg) rs141921797 0.00029
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=) rs372456815 0.00029
NM_000061.3(BTK):c.1252T>C (p.Tyr418His) rs144079566 0.00029
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_000251.3(MSH2):c.471C>A (p.Gly157=) rs61756463 0.00029
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg) rs62635032 0.00029
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000321.3(RB1):c.929G>A (p.Gly310Glu) rs200844292 0.00029
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=) rs116392938 0.00029
NM_000548.5(TSC2):c.4680C>T (p.Ala1560=) rs139507276 0.00029
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391 0.00029
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu) rs143502927 0.00029
NM_001080414.4(CCDC88C):c.322G>A (p.Gly108Ser) rs61745604 0.00029
NM_001110556.2(FLNA):c.2023-8C>T rs587780335 0.00029
NM_001160372.4(TRAPPC9):c.1809G>A (p.Leu603=) rs146235874 0.00029
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330 0.00029
NM_001194998.2(CEP152):c.4757G>C (p.Arg1586Pro) rs202237336 0.00029
NM_001267550.2(TTN):c.49944G>A (p.Lys16648=) rs190021597 0.00029
NM_001267550.2(TTN):c.52008C>G (p.Val17336=) rs144507270 0.00029
NM_001271.4(CHD2):c.1091A>G (p.Asn364Ser) rs143043614 0.00029
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148 0.00029
NM_001349338.3(FOXP1):c.855T>G (p.Thr285=) rs141007926 0.00029
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) rs398122391 0.00029
NM_001429.4(EP300):c.6481A>G (p.Met2161Val) rs188035979 0.00029
NM_002354.3(EPCAM):c.577A>G (p.Ile193Val) rs200676965 0.00029
NM_002470.4(MYH3):c.376G>C (p.Val126Leu) rs201787435 0.00029
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=) rs146168040 0.00029
NM_005045.4(RELN):c.5796C>T (p.Asn1932=) rs200299096 0.00029
NM_005045.4(RELN):c.8843+3A>C rs200124755 0.00029
NM_005249.5(FOXG1):c.201G>T (p.Pro67=) rs587780944 0.00029
NM_005334.3(HCFC1):c.3963A>G (p.Pro1321=) rs377467572 0.00029
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr) rs148028521 0.00029
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val) rs150368988 0.00029
NM_006015.6(ARID1A):c.3408G>A (p.Ala1136=) rs146598030 0.00029
NM_006015.6(ARID1A):c.6659A>G (p.Asn2220Ser) rs139576809 0.00029
NM_006231.4(POLE):c.5496T>C (p.Leu1832=) rs147543146 0.00029
NM_006265.3(RAD21):c.735C>T (p.Pro245=) rs199767556 0.00029
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_014141.6(CNTNAP2):c.2190C>T (p.Cys730=) rs74354654 0.00029
NM_014915.3(ANKRD26):c.2697+9A>G rs370796881 0.00029
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln) rs202112856 0.00029
NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly) rs201083157 0.00029
NM_018013.4(SOBP):c.1747T>C (p.Ser583Pro) rs760532040 0.00029
NM_018026.4(PACS1):c.2294-7_2294-6del rs534796219 0.00029
NM_018136.5(ASPM):c.937A>G (p.Ile313Val) rs12025066 0.00029
NM_018249.6(CDK5RAP2):c.2003A>G (p.Tyr668Cys) rs137966123 0.00029
NM_018451.5(CENPJ):c.1586C>G (p.Ser529Ter) rs202058504 0.00029
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=) rs558778286 0.00029
NM_024649.5(BBS1):c.1695+10G>A rs200276861 0.00029
NM_024757.5(EHMT1):c.576G>A (p.Pro192=) rs574514175 0.00029
NM_030632.3(ASXL3):c.2342C>T (p.Pro781Leu) rs201776257 0.00029
NM_031885.5(BBS2):c.-2T>G rs111296910 0.00029
NM_173630.4(RTTN):c.2355T>C (p.Ser785=) rs200600259 0.00029
NM_176824.3(BBS7):c.1158A>G (p.Thr386=) rs146617227 0.00029
NM_182914.3(SYNE2):c.12043T>C (p.Tyr4015His) rs75665958 0.00029
NM_182914.3(SYNE2):c.7128A>G (p.Pro2376=) rs117423703 0.00029
NM_198253.3(TERT):c.2520G>A (p.Leu840=) rs144310369 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716 0.00028
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875 0.00028
NM_000233.4(LHCGR):c.561A>G (p.Glu187=) rs369601921 0.00028
NM_000377.3(WAS):c.1200G>A (p.Pro400=) rs375356111 0.00028
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00028
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578 0.00028
NM_001110556.2(FLNA):c.2178C>T (p.Asn726=) rs371501734 0.00028
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870 0.00028
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=) rs34654141 0.00028
NM_001130438.3(SPTAN1):c.3042T>G (p.Gly1014=) rs150870424 0.00028
NM_001291867.2(NHS):c.513C>T (p.Leu171=) rs398124610 0.00028
NM_002439.5(MSH3):c.2262A>G (p.Ile754Met) rs200819607 0.00028
NM_002439.5(MSH3):c.356C>T (p.Ser119Phe) rs144607594 0.00028
NM_002878.4(RAD51D):c.216C>T (p.Tyr72=) rs148690585 0.00028
NM_003482.4(KMT2D):c.13001C>T (p.Ala4334Val) rs183702050 0.00028
NM_005271.5(GLUD1):c.393C>G (p.Val131=) rs147496974 0.00028
NM_006031.6(PCNT):c.688C>T (p.Arg230Cys) rs143560718 0.00028
NM_006231.4(POLE):c.2510T>C (p.Phe837Ser) rs139182500 0.00028
NM_006947.4(SRP72):c.406G>A (p.Val136Ile) rs145817936 0.00028
NM_014159.7(SETD2):c.3484C>T (p.His1162Tyr) rs137871492 0.00028
NM_014321.4(ORC6):c.2T>C (p.Met1Thr) rs146795505 0.00028
NM_015275.3(WASHC4):c.2159A>G (p.Asn720Ser) rs113419458 0.00028
NM_017780.4(CHD7):c.444G>A (p.Arg148=) rs376455384 0.00028
NM_017841.4(SDHAF2):c.97C>T (p.Arg33Cys) rs144867876 0.00028
NM_018718.3(CEP41):c.422+7G>A rs190680511 0.00028
NM_022455.5(NSD1):c.2696T>C (p.Ile899Thr) rs142703625 0.00028
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His) rs80358359 0.00028
NM_144997.7(FLCN):c.1149C>T (p.Leu383=) rs150752548 0.00028
NM_207361.6(FREM2):c.8337C>T (p.Ser2779=) rs181564966 0.00028
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_000455.5(STK11):c.*8C>T rs587782259 0.00027
NM_001102401.4(TTI2):c.1274T>G (p.Leu425Arg) rs3736497 0.00027
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr) rs202012910 0.00027
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257 0.00027
NM_001374828.1(ARID1B):c.4809C>T (p.Gly1603=) rs139903653 0.00027
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_004369.4(COL6A3):c.7359G>A (p.Glu2453=) rs114199044 0.00027
NM_004656.4(BAP1):c.1330A>G (p.Thr444Ala) rs374746213 0.00027
NM_004714.3(DYRK1B):c.1002C>T (p.Ala334=) rs146996483 0.00027
NM_006279.5(ST3GAL3):c.1079G>A (p.Arg360Gln) rs553120567 0.00027
NM_006420.3(ARFGEF2):c.2814+15G>C rs370805254 0.00027
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His) rs544216926 0.00027
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688 0.00027
NM_020207.7(ERCC6L2):c.379C>G (p.Gln127Glu) rs146075543 0.00027
NM_022552.5(DNMT3A):c.1385C>T (p.Ala462Val) rs200845575 0.00027
NM_024747.6(HPS6):c.-5G>A rs376684120 0.00027
NM_030665.4(RAI1):c.4043C>T (p.Ala1348Val) rs143396390 0.00027
NM_173495.3(PTCHD1):c.517A>G (p.Ile173Val) rs147324438 0.00027
NM_000038.6(APC):c.8266A>G (p.Ile2756Val) rs146115809 0.00026
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548 0.00026
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 0.00026
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=) rs28897730 0.00026
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00026
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521 0.00026
NM_000179.3(MSH6):c.4002-10T>A rs545466048 0.00026
NM_000214.3(JAG1):c.414G>A (p.Ala138=) rs371682149 0.00026
NM_000384.3(APOB):c.925G>A (p.Ala309Thr) rs141888564 0.00026
NM_000527.5(LDLR):c.1056C>T (p.Cys352=) rs13306515 0.00026
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter) rs138156467 0.00026
NM_000760.4(CSF3R):c.272A>G (p.His91Arg) rs148307285 0.00026
NM_000978.4(RPL23):c.280G>A (p.Val94Met) rs139318203 0.00026
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn) rs150613209 0.00026
NM_001042492.3(NF1):c.7554C>G (p.Ala2518=) rs141897690 0.00026
NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn) rs200141437 0.00026
NM_001267550.2(TTN):c.91425C>T (p.Asp30475=) rs145133144 0.00026
NM_001282531.3(ADNP):c.2772G>C (p.Glu924Asp) rs148496595 0.00026
NM_001364905.1(LRBA):c.3392A>G (p.Asp1131Gly) rs553138286 0.00026
NM_001367624.2(ZNF469):c.4855G>A (p.Glu1619Lys) rs759327672 0.00026
NM_001374828.1(ARID1B):c.4315G>A (p.Gly1439Arg) rs199674889 0.00026
NM_001384732.1(CPLANE1):c.6744A>G (p.Gln2248=) rs142772503 0.00026
NM_001493.3(GDI1):c.696C>T (p.Gly232=) rs146653767 0.00026
NM_002025.4(AFF2):c.493A>G (p.Asn165Asp) rs142559324 0.00026
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206 0.00026
NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser) rs182216426 0.00026
NM_003383.5(VLDLR):c.732C>G (p.Ile244Met) rs145995735 0.00026
NM_003383.5(VLDLR):c.954C>T (p.Cys318=) rs373943845 0.00026
NM_003482.4(KMT2D):c.2546C>T (p.Ser849Leu) rs370492566 0.00026
NM_003482.4(KMT2D):c.6437C>T (p.Pro2146Leu) rs563981206 0.00026
NM_003611.3(OFD1):c.2376G>A (p.Glu792=) rs183241931 0.00026
NM_004260.4(RECQL4):c.1872C>T (p.Val624=) rs201815449 0.00026
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu) rs148934350 0.00026
NM_006118.4(HAX1):c.91del (p.Glu31fs) rs764082747 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_007259.5(VPS45):c.-4C>T rs200563209 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_014795.4(ZEB2):c.1438G>T (p.Ala480Ser) rs143854197 0.00026
NM_014795.4(ZEB2):c.1735A>G (p.Thr579Ala) rs140593583 0.00026
NM_015426.5(POC1A):c.159C>T (p.Arg53=) rs377711159 0.00026
NM_017739.4(POMGNT1):c.1284+9G>C rs565797493 0.00026
NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser) rs199614124 0.00026
NM_018026.4(PACS1):c.637G>A (p.Val213Met) rs142653069 0.00026
NM_020831.6(MRTFA):c.2364+5C>T rs377354263 0.00026
NM_144969.3(ZDHHC15):c.1008A>G (p.Glu336=) rs144128364 0.00026
NM_153252.5(BRWD3):c.2184G>A (p.Ala728=) rs369118921 0.00026
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) rs80358674 0.00025
NM_000546.6(TP53):c.704A>G (p.Asn235Ser) rs144340710 0.00025
NM_001024613.4(FEZF1):c.1164C>T (p.Thr388=) rs142377395 0.00025
NM_001040142.2(SCN2A):c.2923C>T (p.Leu975=) rs375858093 0.00025
NM_001128840.3(CACNA1D):c.4977G>A (p.Ser1659=) rs150463212 0.00025
NM_001267550.2(TTN):c.5697C>T (p.Ile1899=) rs148434577 0.00025
NM_001330078.2(NRXN1):c.2190G>T (p.Gln730His) rs199978276 0.00025
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro) rs201517720 0.00025
NM_002485.5(NBN):c.939G>A (p.Ala313=) rs145750430 0.00025
NM_003482.4(KMT2D):c.15671G>A (p.Arg5224His) rs3782356 0.00025
NM_004655.4(AXIN2):c.1059+8C>T rs367595502 0.00025
NM_005027.4(PIK3R2):c.1243G>A (p.Ala415Thr) rs200178501 0.00025
NM_005045.4(RELN):c.1144-15T>C rs2301560 0.00025
NM_005732.4(RAD50):c.2177G>A (p.Arg726His) rs28903092 0.00025
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val) rs143802431 0.00025
NM_014008.5(CCDC22):c.659G>A (p.Arg220Gln) rs201088755 0.00025
NM_014795.4(ZEB2):c.2142G>A (p.Pro714=) rs201180901 0.00025
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947 0.00025
NM_022455.5(NSD1):c.7908C>T (p.Leu2636=) rs143159630 0.00025
NM_133444.3(ZNF526):c.825C>T (p.Cys275=) rs138082392 0.00025
NM_145239.3(PRRT2):c.1013T>C (p.Val338Ala) rs144540943 0.00025
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile) rs142204928 0.00025
NM_177438.3(DICER1):c.1124C>G (p.Pro375Arg) rs148758903 0.00025
NM_000038.6(APC):c.5274T>A (p.Ser1758=) rs199600387 0.00024
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408 0.00024
NM_000276.4(OCRL):c.2680T>A (p.Phe894Ile) rs147629352 0.00024
NM_000352.6(ABCC8):c.105G>A (p.Pro35=) rs199925058 0.00024
NM_000372.5(TYR):c.454C>T (p.Pro152Ser) rs145513733 0.00024
NM_000383.4(AIRE):c.1483C>T (p.Leu495=) rs376909088 0.00024
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly) rs145009419 0.00024
NM_000545.8(HNF1A):c.586A>G (p.Thr196Ala) rs139712739 0.00024
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys) rs139334561 0.00024
NM_001134407.3(GRIN2A):c.2277C>T (p.Thr759=) rs148846694 0.00024
NM_001244008.2(KIF1A):c.4744-5C>T rs117815481 0.00024
NM_001318510.2(ACSL4):c.806+8A>C rs201269990 0.00024
NM_001367721.1(CASK):c.600A>G (p.Val200=) rs147738759 0.00024
NM_001374828.1(ARID1B):c.2379T>C (p.His793=) rs370364530 0.00024
NM_001813.3(CENPE):c.7886G>A (p.Arg2629Gln) rs141321114 0.00024
NM_001918.5(DBT):c.37A>G (p.Asn13Asp) rs140308307 0.00024
NM_001987.5(ETV6):c.72G>A (p.Val24=) rs143194205 0.00024
NM_002691.4(POLD1):c.885G>C (p.Val295=) rs201946114 0.00024
NM_002693.3(POLG):c.3482+7G>A rs200309191 0.00024
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) rs142352920 0.00024
NM_004525.3(LRP2):c.5107C>T (p.Pro1703Ser) rs141260047 0.00024
NM_004991.4(MECOM):c.1355A>C (p.Asp452Ala) rs145677287 0.00024
NM_005045.4(RELN):c.4872A>G (p.Gln1624=) rs149121159 0.00024
NM_005373.3(MPL):c.549G>A (p.Thr183=) rs147130173 0.00024
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_007294.4(BRCA1):c.4358-10C>T rs80358111 0.00024
NM_007294.4(BRCA1):c.528G>A (p.Thr176=) rs34545365 0.00024
NM_014915.3(ANKRD26):c.3761A>G (p.Asp1254Gly) rs368705077 0.00024
NM_015599.3(PGM3):c.1085A>T (p.Glu362Val) rs34238319 0.00024
NM_020975.6(RET):c.2088G>A (p.Ser696=) rs150329150 0.00024
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_022725.4(FANCF):c.573C>G (p.Ser191Arg) rs146219377 0.00024
NM_025009.5(CEP135):c.142C>T (p.Arg48Trp) rs202084972 0.00024
NM_030665.4(RAI1):c.109G>A (p.Gly37Arg) rs201393598 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_032531.4(KIRREL3):c.174G>A (p.Val58=) rs373309027 0.00024
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=) rs141324814 0.00024
NM_171998.4(RAB39B):c.543A>G (p.Thr181=) rs369970931 0.00024
NM_198253.3(TERT):c.1138C>T (p.Pro380Ser) rs144756946 0.00024
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_000059.4(BRCA2):c.5170A>G (p.Ile1724Val) rs35335654 0.00023
NM_000064.4(C3):c.1873A>T (p.Ile625Phe) rs144432231 0.00023
NM_000179.3(MSH6):c.3438+11_3438+14del rs377746844 0.00023
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser) rs267608026 0.00023
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594 0.00023
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167 0.00023
NM_000489.6(ATRX):c.6405C>T (p.Phe2135=) rs148659669 0.00023
NM_000834.5(GRIN2B):c.1356C>T (p.Tyr452=) rs142935139 0.00023
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=) rs200603552 0.00023
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly) rs773401427 0.00023
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788 0.00023
NM_001184.4(ATR):c.117A>G (p.Gln39=) rs56297030 0.00023
NM_001370259.2(MEN1):c.-6G>A rs768088337 0.00023
NM_001374828.1(ARID1B):c.7023C>T (p.His2341=) rs183572405 0.00023
NM_001904.4(CTNNB1):c.1830C>T (p.Ile610=) rs374923885 0.00023
NM_004722.4(AP4M1):c.1342G>A (p.Ala448Thr) rs147738731 0.00023
NM_006005.3(WFS1):c.2250C>T (p.Ala750=) rs369498603 0.00023
NM_006015.6(ARID1A):c.2139A>G (p.Pro713=) rs779283100 0.00023
NM_006947.4(SRP72):c.610+11T>C rs558553825 0.00023
NM_007118.4(TRIO):c.6836-4dup rs758053482 0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_007327.4(GRIN1):c.1005T>C (p.Thr335=) rs145176345 0.00023
NM_014795.4(ZEB2):c.462G>A (p.Glu154=) rs372940559 0.00023
NM_017654.4(SAMD9):c.1880del (p.Ser627fs) rs767270627 0.00023
NM_171998.4(RAB39B):c.93T>C (p.Gly31=) rs143418001 0.00023
NM_182914.3(SYNE2):c.9785A>G (p.Lys3262Arg) rs374766665 0.00023
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935 0.00022
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly) rs68071147 0.00022
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000059.4(BRCA2):c.9502-12T>G rs81002803 0.00022
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461 0.00022
NM_000143.4(FH):c.7C>G (p.Arg3Gly) rs202166344 0.00022
NM_000240.4(MAOA):c.1559A>G (p.Lys520Arg) rs1800466 0.00022
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg) rs63750702 0.00022
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val) rs139486832 0.00022
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser) rs142063461 0.00022
NM_000546.6(TP53):c.216C>T (p.Pro72=) rs56275308 0.00022
NM_000550.3(TYRP1):c.1138G>T (p.Ala380Ser) rs184910238 0.00022
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys) rs147875659 0.00022
NM_001109809.5(ZFP57):c.1118C>G (p.Ser373Cys) rs193232883 0.00022
NM_001134407.3(GRIN2A):c.3702C>T (p.Phe1234=) rs372083517 0.00022
NM_001160372.4(TRAPPC9):c.3411C>A (p.Pro1137=) rs373979305 0.00022
NM_001353108.3(CEP63):c.572G>A (p.Arg191Gln) rs529386244 0.00022
NM_001374828.1(ARID1B):c.2205A>T (p.Glu735Asp) rs139125255 0.00022
NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp) rs374663067 0.00022
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu) rs372619046 0.00022
NM_001448.3(GPC4):c.646G>T (p.Val216Leu) rs142826244 0.00022
NM_002291.3(LAMB1):c.2152G>A (p.Val718Met) rs142742847 0.00022
NM_004360.5(CDH1):c.33G>C (p.Leu11=) rs730881654 0.00022
NM_004364.5(CEBPA):c.561G>C (p.Pro187=) rs538441046 0.00022
NM_006015.6(ARID1A):c.5491C>G (p.Leu1831Val) rs150534917 0.00022
NM_006231.4(POLE):c.672C>T (p.Tyr224=) rs376923206 0.00022
NM_013275.6(ANKRD11):c.116C>T (p.Thr39Ile) rs149152296 0.00022
NM_014467.3(SRPX2):c.693C>A (p.His231Gln) rs142719253 0.00022
NM_015450.3(POT1):c.1228G>C (p.Asp410His) rs79314063 0.00022
NM_016343.4(CENPF):c.7721C>T (p.Ser2574Phe) rs201477597 0.00022
NM_016356.5(DCDC2):c.222C>A (p.Ile74=) rs138670560 0.00022
NM_017849.4(TMEM127):c.565C>T (p.Leu189=) rs146965678 0.00022
NM_020207.7(ERCC6L2):c.789-4A>G rs367808564 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_022095.4(ZNF335):c.808C>T (p.Arg270Cys) rs145110365 0.00022
NM_024426.6(WT1):c.760C>T (p.Pro254Ser) rs2234584 0.00022
NM_024596.5(MCPH1):c.1214T>C (p.Leu405Pro) rs556803400 0.00022
NM_024757.5(EHMT1):c.3198C>T (p.Asp1066=) rs367688971 0.00022
NM_024757.5(EHMT1):c.905A>G (p.Lys302Arg) rs565065320 0.00022
NM_024824.5(ZC3H14):c.1260T>G (p.Asp420Glu) rs201108116 0.00022
NM_025099.6(CTC1):c.3515-10C>T rs200225342 0.00022
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_030928.4(CDT1):c.75G>T (p.Leu25=) rs765888738 0.00022
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala) rs142971568 0.00022
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000059.4(BRCA2):c.8154T>C (p.Ile2718=) rs148880015 0.00021
NM_000144.5(FXN):c.179G>A (p.Arg60His) rs141858334 0.00021
NM_000168.6(GLI3):c.1028+3A>T rs368499795 0.00021
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter) rs121908866 0.00021
NM_001032221.6(STXBP1):c.627C>T (p.Leu209=) rs567071026 0.00021
NM_001042492.3(NF1):c.5269-9A>G rs544515671 0.00021
NM_001110792.2(MECP2):c.1020C>T (p.Leu340=) rs61751442 0.00021
NM_001184.4(ATR):c.2688G>A (p.Leu896=) rs117926957 0.00021
NM_001184.4(ATR):c.483A>G (p.Arg161=) rs182268224 0.00021
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732 0.00021
NM_001244008.2(KIF1A):c.2475C>T (p.Tyr825=) rs199996308 0.00021
NM_001347721.2(DYRK1A):c.1014C>T (p.Leu338=) rs143646885 0.00021
NM_001368397.1(FRMPD4):c.1224T>C (p.His408=) rs200736738 0.00021
NM_002734.5(PRKAR1A):c.489T>C (p.Thr163=) rs143672551 0.00021
NM_003072.5(SMARCA4):c.1419+4C>T rs370219784 0.00021
NM_003072.5(SMARCA4):c.747C>T (p.Tyr249=) rs756224211 0.00021
NM_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg) rs140758033 0.00021
NM_004006.3(DMD):c.5163G>C (p.Lys1721Asn) rs72468630 0.00021
NM_006031.6(PCNT):c.5940C>T (p.Gly1980=) rs150436577 0.00021
NM_006086.4(TUBB3):c.666C>T (p.Tyr222=) rs61743676 0.00021
NM_006208.3(ENPP1):c.2336C>A (p.Thr779Asn) rs200239821 0.00021
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu) rs80357147 0.00021
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_014915.3(ANKRD26):c.153C>G (p.His51Gln) rs139049098 0.00021
NM_017654.4(SAMD9):c.4417C>T (p.Arg1473Cys) rs145665736 0.00021
NM_017755.6(NSUN2):c.915C>T (p.Arg305=) rs527650370 0.00021
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) rs61743849 0.00021
NM_017780.4(CHD7):c.7085G>A (p.Ser2362Asn) rs139876661 0.00021
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly) rs45594034 0.00021
NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala) rs150157112 0.00021
NM_025114.4(CEP290):c.3408A>G (p.Gln1136=) rs11836796 0.00021
NM_032415.7(CARD11):c.1595C>T (p.Thr532Met) rs201780608 0.00021
NM_170707.4(LMNA):c.1017G>A (p.Ala339=) rs17847242 0.00021
NM_175914.5(HNF4A):c.427-4G>A rs146751799 0.00021
NM_181523.3(PIK3R1):c.1920G>A (p.Gly640=) rs61749602 0.00021
NM_182961.4(SYNE1):c.3669+4C>G rs376511242 0.00021
NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp) rs140780725 0.00021
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00020
NM_000059.4(BRCA2):c.198A>G (p.Gln66=) rs28897700 0.00020
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643 0.00020
NM_000136.3(FANCC):c.1407G>A (p.Thr469=) rs79722116 0.00020
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_000264.5(PTCH1):c.2222C>T (p.Ala741Val) rs2227971 0.00020
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=) rs142636150 0.00020
NM_001080.3(ALDH5A1):c.1344-6T>C rs368212282 0.00020
NM_001099274.3(TINF2):c.507+6G>A rs142144996 0.00020
NM_001267550.2(TTN):c.102520G>A (p.Val34174Ile) rs200430493 0.00020
NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu) rs149787233 0.00020
NM_001958.5(EEF1A2):c.30C>T (p.Ile10=) rs376374917 0.00020
NM_002354.3(EPCAM):c.458G>C (p.Arg153Thr) rs189732445 0.00020
NM_003383.5(VLDLR):c.738C>T (p.Cys246=) rs116687040 0.00020
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279 0.00020
NM_004972.4(JAK2):c.143G>A (p.Gly48Glu) rs143227399 0.00020
NM_005249.5(FOXG1):c.456G>T (p.Gly152=) rs587783637 0.00020
NM_006031.6(PCNT):c.5680G>A (p.Val1894Ile) rs113208348 0.00020
NM_006031.6(PCNT):c.6277G>A (p.Asp2093Asn) rs200303861 0.00020
NM_016495.6(TBC1D7):c.406G>A (p.Ala136Thr) rs9381921 0.00020
NM_017757.3(ZNF407):c.4010A>G (p.Tyr1337Cys) rs760492866 0.00020
NM_020461.4(TUBGCP6):c.5285C>T (p.Pro1762Leu) rs201721812 0.00020
NM_022436.3(ABCG5):c.897C>T (p.Asp299=) rs373237261 0.00020
NM_022455.5(NSD1):c.4509G>A (p.Met1503Ile) rs199574095 0.00020
NM_022552.5(DNMT3A):c.1155G>A (p.Pro385=) rs368009374 0.00020
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met) rs139522696 0.00020
NM_139027.6(ADAMTS13):c.2686G>A (p.Val896Met) rs147732725 0.00020
NM_173689.7(CRB2):c.1494G>T (p.Trp498Cys) rs144803819 0.00020
NM_000051.4(ATM):c.1272T>C (p.Pro424=) rs35578748 0.00019
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485 0.00019
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475 0.00019
NM_000051.4(ATM):c.4980C>T (p.Asn1660=) rs144338238 0.00019
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782 0.00019
NM_000059.4(BRCA2):c.6921A>G (p.Ser2307=) rs181183366 0.00019
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met) rs59004709 0.00019
NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg) rs55847618 0.00019
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr) rs143152201 0.00019
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000207.3(INS):c.-153C>G rs915076855 0.00019
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073 0.00019
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys) rs63750006 0.00019
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_000465.4(BARD1):c.57G>A (p.Glu19=) rs730881406 0.00019
NM_000540.3(RYR1):c.1123-11C>T rs3745845 0.00019
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala) rs35993958 0.00019
NM_000551.4(VHL):c.341-6C>T rs191201783 0.00019
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser) rs200303151 0.00019
NM_001018113.3(FANCB):c.507T>C (p.Ser169=) rs149609970 0.00019
NM_001042492.3(NF1):c.1032A>G (p.Leu344=) rs199832006 0.00019
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=) rs144091165 0.00019
NM_001077418.3(TMEM231):c.140-28C>G rs375353411 0.00019
NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=) rs199530601 0.00019
NM_001110792.2(MECP2):c.1224C>T (p.Ser408=) rs781816931 0.00019
NM_001110792.2(MECP2):c.722C>T (p.Ser241Leu) rs61749739 0.00019
NM_001111125.3(IQSEC2):c.3735C>T (p.His1245=) rs797045630 0.00019
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122 0.00019
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796 0.00019
NM_001247997.2(CLIP1):c.2338C>T (p.Arg780Trp) rs3741447 0.00019
NM_001267550.2(TTN):c.39127+10A>C rs397517554 0.00019
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile) rs374620001 0.00019
NM_001267550.2(TTN):c.86052T>C (p.Thr28684=) rs76928874 0.00019
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) rs200503016 0.00019
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His) rs141258018 0.00019
NM_001267550.2(TTN):c.97578C>T (p.Asp32526=) rs142907833 0.00019
NM_001283009.2(RTEL1):c.1349-9G>A rs772899702 0.00019
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460 0.00019
NM_001365999.1(SZT2):c.4647C>T (p.Gly1549=) rs149192929 0.00019
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_002354.3(EPCAM):c.63C>G (p.Ala21=) rs549177672 0.00019
NM_002485.5(NBN):c.37+6G>A rs540868733 0.00019
NM_002878.4(RAD51D):c.*7C>T rs370985675 0.00019
NM_003482.4(KMT2D):c.2506C>A (p.Gln836Lys) rs200192746 0.00019
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113 0.00019
NM_004153.4(ORC1):c.1239A>C (p.Ala413=) rs377164890 0.00019
NM_004168.4(SDHA):c.1569T>C (p.Ala523=) rs150192376 0.00019
NM_004187.5(KDM5C):c.536G>A (p.Arg179His) rs201805773 0.00019
NM_005045.4(RELN):c.8798C>T (p.Thr2933Ile) rs201656873 0.00019
NM_006015.6(ARID1A):c.2698G>A (p.Ala900Thr) rs138418893 0.00019
NM_006947.4(SRP72):c.1294G>A (p.Ala432Thr) rs201102960 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087 0.00019
NM_012156.2(EPB41L1):c.1893C>T (p.Ser631=) rs142447348 0.00019
NM_015426.5(POC1A):c.784C>T (p.Arg262Trp) rs146976547 0.00019
NM_015450.3(POT1):c.64A>G (p.Ile22Val) rs375440229 0.00019
NM_016222.4(DDX41):c.741G>A (p.Glu247=) rs143274979 0.00019
NM_018136.5(ASPM):c.5224T>C (p.Tyr1742His) rs143733126 0.00019
NM_019066.5(MAGEL2):c.434C>T (p.Pro145Leu) rs372352945 0.00019
NM_020461.4(TUBGCP6):c.655G>T (p.Val219Leu) rs137934849 0.00019
NM_020921.4(NIN):c.1991C>T (p.Thr664Ile) rs147946706 0.00019
NM_020987.5(ANK3):c.4085G>C (p.Gly1362Ala) rs200556767 0.00019
NM_022455.5(NSD1):c.6444T>C (p.Asn2148=) rs146601031 0.00019
NM_024426.6(WT1):c.193G>A (p.Gly65Arg) rs374404615 0.00019
NM_024596.5(MCPH1):c.2295G>A (p.Ser765=) rs200401940 0.00019
NM_024747.6(HPS6):c.541A>G (p.Thr181Ala) rs144257610 0.00019
NM_030665.4(RAI1):c.4295C>T (p.Pro1432Leu) rs201405375 0.00019
NM_030773.4(TUBB1):c.400C>T (p.Gln134Ter) rs199948010 0.00019
NM_032119.4(ADGRV1):c.10697T>C (p.Ile3566Thr) rs201483312 0.00019
NM_032119.4(ADGRV1):c.2734+8A>G rs371906040 0.00019
NM_032444.4(SLX4):c.3583_3585del (p.Ile1195del) rs199897550 0.00019
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln) rs149629686 0.00019
NM_181507.2(HPS5):c.1900G>A (p.Glu634Lys) rs143204089 0.00019
NM_000038.6(APC):c.5009C>T (p.Ala1670Val) rs202228932 0.00018
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr) rs555219189 0.00018
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653 0.00018
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_000455.5(STK11):c.618G>A (p.Ala206=) rs370976710 0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325 0.00018
NM_000546.6(TP53):c.935C>G (p.Thr312Ser) rs145151284 0.00018
NM_001048174.2(MUTYH):c.1102+9A>T rs587780742 0.00018
NM_001080414.4(CCDC88C):c.1962G>A (p.Leu654=) rs61746076 0.00018
NM_001110792.2(MECP2):c.429C>G (p.Ala143=) rs61748385 0.00018
NM_001244008.2(KIF1A):c.3202+8G>A rs371620074 0.00018
NM_001267550.2(TTN):c.58072C>T (p.Arg19358Cys) rs371973579 0.00018
NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys) rs199537542 0.00018
NM_001374828.1(ARID1B):c.446A>G (p.Asn149Ser) rs776745618 0.00018
NM_005045.4(RELN):c.10093G>A (p.Val3365Ile) rs115035120 0.00018
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_006009.4(TUBA1A):c.390G>C (p.Thr130=) rs1143559 0.00018
NM_006031.6(PCNT):c.6819G>A (p.Gly2273=) rs200610141 0.00018
NM_007294.4(BRCA1):c.*713C>T rs773119778 0.00018
NM_007347.5(AP4E1):c.2932C>T (p.Pro978Ser) rs141278078 0.00018
NM_014467.3(SRPX2):c.624G>A (p.Pro208=) rs139514583 0.00018
NM_014855.3(AP5Z1):c.1600G>T (p.Ala534Ser) rs372517211 0.00018
NM_021044.4(DHH):c.234G>A (p.Val78=) rs370468314 0.00018
NM_024884.3(L2HGDH):c.1269A>G (p.Ala423=) rs369101323 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_198253.3(TERT):c.838G>A (p.Glu280Lys) rs199701877 0.00018
NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met) rs201855218 0.00018
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_000352.6(ABCC8):c.3345G>A (p.Thr1115=) rs186634115 0.00017
NM_000478.6(ALPL):c.413G>A (p.Arg138Gln) rs140167865 0.00017
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_000545.8(HNF1A):c.1500C>T (p.His500=) rs201694197 0.00017
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_001201550.3(CFHR4):c.1235G>A (p.Arg412Gln) rs200135698 0.00017
NM_001329943.3(KIAA0586):c.4084A>T (p.Met1362Leu) rs531527716 0.00017
NM_001972.4(ELANE):c.366+12C>A rs377068029 0.00017
NM_004840.3(ARHGEF6):c.262G>C (p.Asp88His) rs149768069 0.00017
NM_004959.5(NR5A1):c.1266C>T (p.Cys422=) rs140408680 0.00017
NM_006031.6(PCNT):c.1040A>G (p.Lys347Arg) rs80166001 0.00017
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686 0.00017
NM_015275.3(WASHC4):c.3286G>A (p.Ala1096Thr) rs113168943 0.00017
NM_016169.4(SUFU):c.880G>A (p.Gly294Ser) rs143807689 0.00017
NM_016222.4(DDX41):c.490C>T (p.Arg164Trp) rs142143752 0.00017
NM_020987.5(ANK3):c.4907G>A (p.Arg1636Lys) rs188159332 0.00017
NM_022095.4(ZNF335):c.2961G>A (p.Gln987=) rs181061162 0.00017
NM_022455.5(NSD1):c.1558G>A (p.Ala520Thr) rs559617787 0.00017
NM_024592.5(SRD5A3):c.43C>T (p.Leu15=) rs376944136 0.00017
NM_024876.4(COQ8B):c.706G>A (p.Val236Met) rs146225943 0.00017
NM_032043.3(BRIP1):c.1890A>G (p.Thr630=) rs145796331 0.00017
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser) rs550707862 0.00017
NM_032043.3(BRIP1):c.854A>G (p.His285Arg) rs141055990 0.00017
NM_032237.5(POMK):c.373A>T (p.Met125Leu) rs146303063 0.00017
NM_198576.4(AGRN):c.3732C>T (p.His1244=) rs536657086 0.00017
NM_000051.4(ATM):c.8584+10T>C rs373321041 0.00016
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000070.3(CAPN3):c.1830C>T (p.Asn610=) rs202019404 0.00016
NM_000123.4(ERCC5):c.1711C>T (p.Pro571Ser) rs141763734 0.00016
NM_000135.4(FANCA):c.688G>A (p.Val230Ile) rs144560850 0.00016
NM_000162.5(GCK):c.735G>A (p.Glu245=) rs775481896 0.00016
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075 0.00016
NM_000207.3(INS):c.188-96G>A rs565314634 0.00016
NM_000275.3(OCA2):c.1239+5G>C rs757119713 0.00016
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_000516.7(GNAS):c.530+10C>T rs199499878 0.00016
NM_000525.4(KCNJ11):c.1017G>T (p.Val339=) rs770408379 0.00016
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met) rs370196722 0.00016
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp) rs375968016 0.00016
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=) rs149185729 0.00016
NM_001009944.3(PKD1):c.9009G>A (p.Ala3003=) rs374619113 0.00016
NM_001032221.6(STXBP1):c.903-4C>G rs369625158 0.00016
NM_001040142.2(SCN2A):c.2389G>A (p.Val797Ile) rs142128956 0.00016
NM_001040142.2(SCN2A):c.4287T>C (p.Tyr1429=) rs150209984 0.00016
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594 0.00016
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_001080517.3(SETD5):c.3341G>A (p.Gly1114Asp) rs201189533 0.00016
NM_001083962.2(TCF4):c.1487-5G>A rs749176054 0.00016
NM_001083962.2(TCF4):c.330A>C (p.Ser110=) rs780528611 0.00016
NM_001160372.4(TRAPPC9):c.2981G>C (p.Ser994Thr) rs377114410 0.00016
NM_001165963.4(SCN1A):c.1378-3T>C rs150964803 0.00016
NM_001184880.2(PCDH19):c.513C>T (p.Asn171=) rs749602848 0.00016
NM_001194998.2(CEP152):c.186C>T (p.Asp62=) rs548567364 0.00016
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu) rs79027628 0.00016
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783 0.00016
NM_001271.4(CHD2):c.239C>T (p.Pro80Leu) rs186163798 0.00016
NM_001272071.2(AP1S2):c.289-8C>T rs770199415 0.00016
NM_001349338.3(FOXP1):c.1217C>G (p.Thr406Ser) rs200355554 0.00016
NM_001371928.1(AHDC1):c.1446C>T (p.Pro482=) rs138527675 0.00016
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=) rs186932188 0.00016
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737 0.00016
NM_001376.5(DYNC1H1):c.8502A>G (p.Gln2834=) rs146220233 0.00016
NM_001987.5(ETV6):c.573G>T (p.Arg191=) rs35030220 0.00016
NM_002067.5(GNA11):c.234C>T (p.Leu78=) rs770729214 0.00016
NM_002241.5(KCNJ10):c.219G>A (p.Ala73=) rs144495959 0.00016
NM_002439.5(MSH3):c.3174A>G (p.Gln1058=) rs758314489 0.00016
NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter) rs200800978 0.00016
NM_002578.5(PAK3):c.10G>A (p.Gly4Ser) rs140296303 0.00016
NM_002633.3(PGM1):c.1600-3C>T rs375450688 0.00016
NM_002691.4(POLD1):c.2337G>A (p.Ala779=) rs147108748 0.00016
NM_003072.5(SMARCA4):c.441C>T (p.Ser147=) rs201372858 0.00016
NM_003361.4(UMOD):c.1916T>C (p.Phe639Ser) rs145165861 0.00016
NM_003482.4(KMT2D):c.11043G>A (p.Gln3681=) rs371444130 0.00016
NM_003482.4(KMT2D):c.6264C>T (p.Thr2088=) rs370414767 0.00016
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln) rs143141689 0.00016
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu) rs377509915 0.00016
NM_004360.5(CDH1):c.1568A>G (p.Tyr523Cys) rs553907248 0.00016
NM_004562.3(PRKN):c.337_376del (p.Pro113fs) rs771529549 0.00016
NM_005357.4(LIPE):c.2166G>A (p.Ala722=) rs371435924 0.00016
NM_006031.6(PCNT):c.6150+3G>A rs760779996 0.00016
NM_007294.4(BRCA1):c.-61C>T rs549332987 0.00016
NM_012216.4(MID2):c.2144G>A (p.Arg715Gln) rs370198556 0.00016
NM_014141.6(CNTNAP2):c.3600G>A (p.Ser1200=) rs117876038 0.00016
NM_014915.3(ANKRD26):c.1635+9T>C rs199590440 0.00016
NM_017654.4(SAMD9):c.662G>A (p.Arg221Gln) rs148603551 0.00016
NM_017755.6(NSUN2):c.762C>T (p.Asp254=) rs763930477 0.00016
NM_018993.4(RIN2):c.1158G>C (p.Pro386=) rs548499908 0.00016
NM_020831.6(MRTFA):c.325G>A (p.Ala109Thr) rs181447706 0.00016
NM_022095.4(ZNF335):c.3639C>T (p.Thr1213=) rs191074858 0.00016
NM_022095.4(ZNF335):c.3843A>G (p.Pro1281=) rs35291173 0.00016
NM_022455.5(NSD1):c.-8G>A rs199639292 0.00016
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser) rs373932824 0.00016
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln) rs121907932 0.00016
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969 0.00016
NM_025074.7(FRAS1):c.9356A>G (p.Asn3119Ser) rs191105001 0.00016
NM_030665.4(RAI1):c.1476C>T (p.Pro492=) rs200887225 0.00016
NM_030665.4(RAI1):c.214G>A (p.Ala72Thr) rs370671656 0.00016
NM_032043.3(BRIP1):c.1872G>A (p.Ser624=) rs145504336 0.00016
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624 0.00016
NM_032737.4(LMNB2):c.1406C>T (p.Ser469Leu) rs369942106 0.00016
NM_033022.4(RPS24):c.235C>T (p.Leu79=) rs192994060 0.00016
NM_133433.4(NIPBL):c.2903A>G (p.Asn968Ser) rs180747605 0.00016
NM_144596.4(TTC8):c.1463C>T (p.Ala488Val) rs199649536 0.00016
NM_152564.5(VPS13B):c.358A>G (p.Ile120Val) rs201147123 0.00016
NM_153033.5(KCTD7):c.133C>T (p.Leu45=) rs587780370 0.00016
NM_181332.3(NLGN4X):c.2360C>T (p.Thr787Met) rs4995611 0.00016
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_000204.5(CFI):c.608C>T (p.Thr203Ile) rs138346388 0.00015
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284 0.00015
NM_000264.5(PTCH1):c.2485G>A (p.Val829Met) rs201125580 0.00015
NM_000303.3(PMM2):c.*10G>A rs200930493 0.00015
NM_000540.3(RYR1):c.14304-10G>A rs368201693 0.00015
NM_001040142.2(SCN2A):c.5468A>C (p.Asp1823Ala) rs138497939 0.00015
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812 0.00015
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu) rs148736217 0.00015
NM_001110792.2(MECP2):c.1176G>A (p.Val392=) rs201711454 0.00015
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His) rs185957513 0.00015
NM_001160372.4(TRAPPC9):c.3136C>T (p.Arg1046Trp) rs376617920 0.00015
NM_001165963.4(SCN1A):c.1410C>T (p.Ser470=) rs142571794 0.00015
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu) rs200132226 0.00015
NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val) rs532329866 0.00015
NM_001368397.1(FRMPD4):c.2599A>G (p.Asn867Asp) rs144170600 0.00015
NM_001374828.1(ARID1B):c.6063C>T (p.Thr2021=) rs376113162 0.00015
NM_001376.5(DYNC1H1):c.3156+5G>A rs200905961 0.00015
NM_001378120.1(MBD5):c.4857C>T (p.Gly1619=) rs543329958 0.00015
NM_003482.4(KMT2D):c.2232A>C (p.Ser744=) rs200155807 0.00015
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs) rs782339984 0.00015
NM_004260.4(RECQL4):c.1115G>C (p.Arg372Thr) rs200097701 0.00015
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn) rs372989292 0.00015
NM_004525.3(LRP2):c.8132G>A (p.Arg2711His) rs190037522 0.00015
NM_005120.3(MED12):c.4179A>C (p.Ser1393=) rs376058351 0.00015
NM_005857.5(ZMPSTE24):c.325T>G (p.Cys109Gly) rs141386841 0.00015
NM_006031.6(PCNT):c.1370A>G (p.Glu457Gly) rs147868583 0.00015
NM_006231.4(POLE):c.6576G>A (p.Ala2192=) rs368555884 0.00015
NM_006949.4(STXBP2):c.914A>G (p.Glu305Gly) rs370890802 0.00015
NM_012309.5(SHANK2):c.5021C>T (p.Thr1674Met) rs141040521 0.00015
NM_033022.4(RPS24):c.189T>C (p.His63=) rs201805132 0.00015
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr) rs147054690 0.00015
NM_000038.6(APC):c.6609T>C (p.Val2203=) rs149328018 0.00014
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp) rs147600485 0.00014
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile) rs35203200 0.00014
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656 0.00014
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr) rs55854959 0.00014
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=) rs144822241 0.00014
NM_000204.5(CFI):c.905-3T>C rs377535161 0.00014
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587 0.00014
NM_000303.3(PMM2):c.634A>G (p.Met212Val) rs3743808 0.00014
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399 0.00014
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val) rs45448801 0.00014
NM_000834.5(GRIN2B):c.291G>A (p.Val97=) rs202223470 0.00014
NM_001008537.3(NEXMIF):c.206C>T (p.Ser69Phe) rs201351157 0.00014
NM_001042492.3(NF1):c.7368A>G (p.Lys2456=) rs201287021 0.00014
NM_001077365.2(POMT1):c.129C>T (p.Asp43=) rs200465419 0.00014
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=) rs370868704 0.00014
NM_001130823.3(DNMT1):c.301C>T (p.Arg101Trp) rs369196079 0.00014
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=) rs191337920 0.00014
NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val) rs117557829 0.00014
NM_001267550.2(TTN):c.50390G>A (p.Arg16797His) rs200835354 0.00014
NM_001267550.2(TTN):c.59282A>G (p.Asn19761Ser) rs563969986 0.00014
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln) rs200843338 0.00014
NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977 0.00014
NM_001330078.2(NRXN1):c.2036C>T (p.Pro679Leu) rs201735573 0.00014
NM_001374828.1(ARID1B):c.5678C>T (p.Ala1893Val) rs201137071 0.00014
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val) rs201728850 0.00014
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00014
NM_001972.4(ELANE):c.428G>A (p.Arg143His) rs200993994 0.00014
NM_002291.3(LAMB1):c.3481C>T (p.Arg1161Cys) rs146018013 0.00014
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter) rs397515426 0.00014
NM_003482.4(KMT2D):c.10444C>T (p.Arg3482Trp) rs201127814 0.00014
NM_003482.4(KMT2D):c.3813A>T (p.Leu1271=) rs201794205 0.00014
NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=) rs374969185 0.00014
NM_004629.2(FANCG):c.881G>A (p.Gly294Glu) rs17880082 0.00014
NM_004933.3(CDH15):c.2369C>T (p.Ala790Val) rs146594802 0.00014
NM_004935.4(CDK5):c.651-9C>T rs76486938 0.00014
NM_005188.4(CBL):c.2513G>T (p.Gly838Val) rs144191570 0.00014
NM_005859.5(PURA):c.621C>T (p.Asp207=) rs142688247 0.00014
NM_006015.6(ARID1A):c.110G>A (p.Gly37Asp) rs933617964 0.00014
NM_006031.6(PCNT):c.4216+9C>T rs369876466 0.00014
NM_006031.6(PCNT):c.6895G>A (p.Asp2299Asn) rs150156962 0.00014
NM_006031.6(PCNT):c.7459C>G (p.Leu2487Val) rs201185279 0.00014
NM_006059.4(LAMC3):c.1051C>T (p.Arg351Cys) rs201626968 0.00014
NM_006231.4(POLE):c.4237G>A (p.Glu1413Lys) rs372901803 0.00014
NM_006231.4(POLE):c.6004+5G>T rs372169366 0.00014
NM_006420.3(ARFGEF2):c.4812G>A (p.Lys1604=) rs142036030 0.00014
NM_007294.4(BRCA1):c.1561G>A (p.Ala521Thr) rs80357122 0.00014
NM_007327.4(GRIN1):c.1340C>A (p.Pro447His) rs587780348 0.00014
NM_012280.4(FTSJ1):c.762A>G (p.Leu254=) rs143734567 0.00014
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln) rs181341030 0.00014
NM_014795.4(ZEB2):c.2973C>T (p.Ile991=) rs572507342 0.00014
NM_014915.3(ANKRD26):c.101C>T (p.Ala34Val) rs368560982 0.00014
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982 0.00014
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp) rs376968555 0.00014
NM_016219.5(MAN1B1):c.1841G>A (p.Arg614His) rs374247020 0.00014
NM_017780.4(CHD7):c.1326C>A (p.Ala442=) rs370097651 0.00014
NM_017780.4(CHD7):c.6775G>A (p.Ala2259Thr) rs200806228 0.00014
NM_018451.5(CENPJ):c.2500C>T (p.Leu834=) rs148738982 0.00014
NM_020987.5(ANK3):c.11159C>T (p.Thr3720Met) rs201547988 0.00014
NM_020987.5(ANK3):c.11251A>G (p.Ser3751Gly) rs200489439 0.00014
NM_020987.5(ANK3):c.2385T>C (p.Asn795=) rs372094828 0.00014
NM_021008.4(DEAF1):c.1182C>T (p.Tyr394=) rs202179285 0.00014
NM_022455.5(NSD1):c.2339C>T (p.Ser780Leu) rs201327209 0.00014
NM_022552.5(DNMT3A):c.1491T>C (p.Cys497=) rs375421208 0.00014
NM_024675.4(PALB2):c.2586+10A>G rs373321719 0.00014
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu) rs146711478 0.00014
NM_030665.4(RAI1):c.5653G>A (p.Asp1885Asn) rs147844401 0.00014
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr) rs142027515 0.00014
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=) rs200440893 0.00014
NM_138386.3(NAF1):c.879-7C>G rs201700729 0.00014
NM_201525.4(ADGRG1):c.1647C>T (p.Gly549=) rs2278808 0.00014
NM_000051.4(ATM):c.8671+9T>G rs200190537 0.00013
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) rs144890720 0.00013
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000162.5(GCK):c.1288C>T (p.Leu430=) rs193922276 0.00013
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly) rs554012110 0.00013
NM_000198.4(HSD3B2):c.308-8G>A rs371712928 0.00013
NM_000251.3(MSH2):c.-3G>C rs587779960 0.00013
NM_000251.3(MSH2):c.505A>G (p.Ile169Val) rs63750716 0.00013
NM_000352.6(ABCC8):c.1818-6G>A rs368708177 0.00013
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279 0.00013
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824 0.00013
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000545.8(HNF1A):c.-96T>G rs576862555 0.00013
NM_000545.8(HNF1A):c.521C>T (p.Ala174Val) rs201934320 0.00013
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_001079872.2(CUL4B):c.1962G>A (p.Pro654=) rs185389157 0.00013
NM_001080.3(ALDH5A1):c.*7T>C rs199767765 0.00013
NM_001083961.2(WDR62):c.2766C>T (p.Arg922=) rs373906889 0.00013
NM_001083961.2(WDR62):c.391-10C>T rs201568145 0.00013
NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile) rs199911951 0.00013
NM_001110792.2(MECP2):c.789C>T (p.Pro263=) rs63582063 0.00013
NM_001123385.2(BCOR):c.519C>T (p.Ser173=) rs138917640 0.00013
NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn) rs80293130 0.00013
NM_001372044.2(SHANK3):c.1398C>G (p.Pro466=) rs371565755 0.00013
NM_001429.4(EP300):c.1782G>C (p.Thr594=) rs17002307 0.00013
NM_002354.3(EPCAM):c.76+6G>T rs774722931 0.00013
NM_002439.5(MSH3):c.1194C>T (p.Gly398=) rs141118996 0.00013
NM_002691.4(POLD1):c.1017G>T (p.Ser339=) rs373404887 0.00013
NM_002968.3(SALL1):c.235G>C (p.Ala79Pro) rs536108231 0.00013
NM_003924.4(PHOX2B):c.773C>A (p.Ala258Glu) rs747626591 0.00013
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser) rs200911775 0.00013
NM_004380.3(CREBBP):c.4280+8T>C rs376814421 0.00013
NM_004408.4(DNM1):c.849+6C>T rs527412689 0.00013
NM_004560.4(ROR2):c.986G>A (p.Ser329Asn) rs371221714 0.00013
NM_004933.3(CDH15):c.107G>A (p.Arg36Gln) rs367770505 0.00013
NM_005188.4(CBL):c.-5A>G rs552214111 0.00013
NM_005236.3(ERCC4):c.973+11A>T rs185779788 0.00013
NM_005886.3(KATNB1):c.183C>T (p.Gly61=) rs188837487 0.00013
NM_006231.4(POLE):c.2935C>T (p.Leu979=) rs56081968 0.00013
NM_006361.6(HOXB13):c.474G>A (p.Pro158=) rs35033273 0.00013
NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr) rs5811 0.00013
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=) rs62625305 0.00013
NM_007347.5(AP4E1):c.791A>G (p.Asn264Ser) rs145541719 0.00013
NM_014141.6(CNTNAP2):c.1777+7G>A rs770951811 0.00013
NM_014271.4(IL1RAPL1):c.784T>G (p.Ser262Ala) rs150439009 0.00013
NM_014915.3(ANKRD26):c.110A>G (p.Gln37Arg) rs543170486 0.00013
NM_015215.4(CAMTA1):c.2568G>A (p.Ser856=) rs374177752 0.00013
NM_016302.4(CRBN):c.654A>G (p.Gln218=) rs373145132 0.00013
NM_017721.5(CC2D1A):c.60+10C>A rs769120532 0.00013
NM_017721.5(CC2D1A):c.959C>A (p.Pro320Gln) rs765282375 0.00013
NM_018062.4(FANCL):c.108C>G (p.Phe36Leu) rs149726602 0.00013
NM_018136.5(ASPM):c.3960C>T (p.Leu1320=) rs148964635 0.00013
NM_018249.6(CDK5RAP2):c.1892C>G (p.Ser631Cys) rs376225756 0.00013
NM_020699.4(GATAD2B):c.544C>T (p.Leu182=) rs368676576 0.00013
NM_020987.5(ANK3):c.1789-10G>A rs200791367 0.00013
NM_022095.4(ZNF335):c.648G>A (p.Pro216=) rs201180565 0.00013
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter) rs201599657 0.00013
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln) rs146377793 0.00013
NM_024757.5(EHMT1):c.3028G>A (p.Val1010Met) rs200237137 0.00013
NM_025009.5(CEP135):c.3320G>A (p.Arg1107Gln) rs745603844 0.00013
NM_030665.4(RAI1):c.5254G>A (p.Gly1752Arg) rs755572135 0.00013
NM_030787.4(CFHR5):c.533A>G (p.Asn178Ser) rs200427185 0.00013
NM_031448.6(C19orf12):c.154G>C (p.Ala52Pro) rs376103979 0.00013
NM_130837.3(OPA1):c.344C>T (p.Ala115Val) rs200983556 0.00013
NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly) rs201566948 0.00013
NM_153252.5(BRWD3):c.573C>T (p.Ser191=) rs187384754 0.00013
NM_182961.4(SYNE1):c.20070G>C (p.Thr6690=) rs141263831 0.00013
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600 0.00012
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00012
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=) rs45525041 0.00012
NM_000059.4(BRCA2):c.7278T>A (p.Ile2426=) rs372377916 0.00012
NM_000081.4(LYST):c.8151T>C (p.Ile2717=) rs201045270 0.00012
NM_000249.4(MLH1):c.1050A>G (p.Pro350=) rs137937003 0.00012
NM_000264.5(PTCH1):c.3435C>T (p.Phe1145=) rs200435277 0.00012
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu) rs118203481 0.00012
NM_000479.5(AMH):c.350G>A (p.Arg117Gln) rs185020288 0.00012
NM_000535.7(PMS2):c.1320A>G (p.Pro440=) rs138697590 0.00012
NM_001008537.3(NEXMIF):c.1854G>A (p.Glu618=) rs142687313 0.00012
NM_001040142.2(SCN2A):c.5364G>A (p.Glu1788=) rs199925238 0.00012
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=) rs140994965 0.00012
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=) rs148744894 0.00012
NM_001113525.2(ZNF276):c.*1313A>G rs368376237 0.00012
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=) rs201236364 0.00012
NM_001160372.4(TRAPPC9):c.543G>A (p.Pro181=) rs149504969 0.00012
NM_001184880.2(PCDH19):c.1330A>G (p.Thr444Ala) rs201671718 0.00012
NM_001199107.2(TBC1D24):c.1026G>A (p.Ser342=) rs370244846 0.00012
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=) rs146219199 0.00012
NM_001267550.2(TTN):c.204C>T (p.Pro68=) rs201089861 0.00012
NM_001267550.2(TTN):c.51887G>A (p.Arg17296His) rs200456782 0.00012
NM_001267550.2(TTN):c.82497C>T (p.Thr27499=) rs199629314 0.00012
NM_001349338.3(FOXP1):c.13T>C (p.Ser5Pro) rs762898505 0.00012
NM_001367624.2(ZNF469):c.5266G>A (p.Ala1756Thr) rs371328036 0.00012
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu) rs750112288 0.00012
NM_003072.5(SMARCA4):c.2409T>C (p.Asn803=) rs199634608 0.00012
NM_003179.3(SYP):c.5T>A (p.Leu2Gln) rs200470034 0.00012
NM_004360.5(CDH1):c.1143G>C (p.Lys381Asn) rs143727462 0.00012
NM_004456.5(EZH2):c.1884C>G (p.Gly628=) rs61732846 0.00012
NM_005120.3(MED12):c.4488C>T (p.Arg1496=) rs531754497 0.00012
NM_005186.4(CAPN1):c.1605+5G>A rs375817528 0.00012
NM_005188.4(CBL):c.2060C>T (p.Pro687Leu) rs146705974 0.00012
NM_005249.5(FOXG1):c.1161G>A (p.Ser387=) rs147154860 0.00012
NM_005373.3(MPL):c.391+5G>C rs752453717 0.00012
NM_006031.6(PCNT):c.5826G>A (p.Arg1942=) rs536281306 0.00012
NM_006059.4(LAMC3):c.944G>A (p.Arg315Gln) rs45444592 0.00012
NM_006231.4(POLE):c.5812-11_5812-10del rs745976640 0.00012
NM_006772.3(SYNGAP1):c.447A>G (p.Lys149=) rs544817923 0.00012
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_012233.3(RAB3GAP1):c.-4C>T rs202050016 0.00012
NM_014795.4(ZEB2):c.2084G>A (p.Arg695Gln) rs147693839 0.00012
NM_016222.4(DDX41):c.3G>A (p.Met1Ile) rs141601766 0.00012
NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu) rs200088377 0.00012
NM_018026.4(PACS1):c.1293+6C>T rs369639320 0.00012
NM_018249.6(CDK5RAP2):c.4399A>G (p.Ile1467Val) rs139924571 0.00012
NM_020937.4(FANCM):c.5832G>T (p.Leu1944Phe) rs201017015 0.00012
NM_024301.5(FKRP):c.954C>T (p.Cys318=) rs755968761 0.00012
NM_031407.7(HUWE1):c.10824C>G (p.Leu3608=) rs191407530 0.00012
NM_032043.3(BRIP1):c.3069C>T (p.Leu1023=) rs61754142 0.00012
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=) rs12627793 0.00012
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu) rs375399419 0.00012
NM_198252.3(GSN):c.1782G>A (p.Leu594=) rs139239940 0.00012
NM_201384.3(PLEC):c.5761C>T (p.Arg1921Trp) rs201278290 0.00012
NM_201525.4(ADGRG1):c.487A>C (p.Ser163Arg) rs373741981 0.00012
NM_000038.6(APC):c.277C>G (p.Leu93Val) rs201567345 0.00011
NM_000051.4(ATM):c.6348-8T>C rs730881292 0.00011
NM_000057.4(BLM):c.1086C>T (p.Asp362=) rs375632163 0.00011
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857 0.00011
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser) rs79483201 0.00011
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys) rs143181565 0.00011
NM_000138.5(FBN1):c.1323A>G (p.Pro441=) rs202030761 0.00011
NM_000141.5(FGFR2):c.625-10A>G rs201512833 0.00011
NM_000162.5(GCK):c.363+9C>T rs200985182 0.00011
NM_000179.3(MSH6):c.628-7C>A rs373129248 0.00011
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser) rs150478207 0.00011
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu) rs35107951 0.00011
NM_000251.3(MSH2):c.198C>T (p.Tyr66=) rs730881784 0.00011
NM_000252.3(MTM1):c.1701C>T (p.Tyr567=) rs587783806 0.00011
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_000276.4(OCRL):c.481G>A (p.Asp161Asn) rs372298378 0.00011
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly) rs199638166 0.00011
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val) rs201140528 0.00011
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln) rs200069592 0.00011
NM_000546.6(TP53):c.217G>A (p.Val73Met) rs587782423 0.00011
NM_000546.6(TP53):c.97-9C>T rs202217267 0.00011
NM_000666.3(ACY1):c.480_493dup (p.His165fs) rs769746453 0.00011
NM_001008537.3(NEXMIF):c.3402C>A (p.His1134Gln) rs138632224 0.00011
NM_001110556.2(FLNA):c.1238C>T (p.Thr413Met) rs782549299 0.00011
NM_001123385.2(BCOR):c.4320T>C (p.Pro1440=) rs753786462 0.00011
NM_001128840.3(CACNA1D):c.6100C>T (p.Arg2034Trp) rs142692903 0.00011
NM_001160372.4(TRAPPC9):c.1194C>T (p.Ile398=) rs587780484 0.00011
NM_001267550.2(TTN):c.4261C>T (p.Arg1421Trp) rs144672482 0.00011
NM_001267550.2(TTN):c.57073G>A (p.Val19025Ile) rs181957743 0.00011
NM_001267550.2(TTN):c.59248G>A (p.Gly19750Ser) rs200732032 0.00011
NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His) rs373210484 0.00011
NM_001323289.2(CDKL5):c.283-13A>G rs587783404 0.00011
NM_001365999.1(SZT2):c.5772G>T (p.Leu1924=) rs187188981 0.00011
NM_001367721.1(CASK):c.2433C>T (p.His811=) rs371990384 0.00011
NM_001382347.1(MYO5A):c.3568-4C>T rs144406001 0.00011
NM_001754.5(RUNX1):c.1005G>T (p.Gln335His) rs80314254 0.00011
NM_001987.5(ETV6):c.741G>A (p.Ala247=) rs571926464 0.00011
NM_002473.6(MYH9):c.5277C>T (p.Ile1759=) rs183105164 0.00011
NM_002485.5(NBN):c.1035C>T (p.Gly345=) rs146605798 0.00011
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00011
NM_002485.5(NBN):c.1914+10G>A rs577706448 0.00011
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_003482.4(KMT2D):c.11278G>A (p.Gly3760Ser) rs373071174 0.00011
NM_003482.4(KMT2D):c.1490C>T (p.Pro497Leu) rs371421459 0.00011
NM_003482.4(KMT2D):c.8973C>T (p.Pro2991=) rs375466241 0.00011
NM_004006.3(DMD):c.295A>G (p.Ile99Val) rs149428656 0.00011
NM_004187.5(KDM5C):c.4611G>A (p.Ser1537=) rs149733911 0.00011
NM_004329.3(BMPR1A):c.961C>T (p.Leu321=) rs377412651 0.00011
NM_004360.5(CDH1):c.2643C>T (p.Asp881=) rs114708971 0.00011
NM_004380.3(CREBBP):c.6852C>G (p.Thr2284=) rs201161108 0.00011
NM_004525.3(LRP2):c.8169C>T (p.Asn2723=) rs200369596 0.00011
NM_005188.4(CBL):c.1432-6C>T rs371919794 0.00011
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591 0.00011
NM_005912.3(MC4R):c.972C>T (p.Gly324=) rs150448918 0.00011
NM_006031.6(PCNT):c.4078C>T (p.Arg1360Cys) rs202221024 0.00011
NM_006031.6(PCNT):c.8930C>T (p.Ala2977Val) rs146657011 0.00011
NM_006031.6(PCNT):c.9332G>A (p.Arg3111His) rs140416280 0.00011
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058 0.00011
NM_006612.6(KIF1C):c.3272G>A (p.Arg1091His) rs201800868 0.00011
NM_006772.3(SYNGAP1):c.1455C>T (p.Arg485=) rs201107225 0.00011
NM_007137.5(ZNF81):c.1264G>A (p.Ala422Thr) rs200890712 0.00011
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250 0.00011
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280 0.00011
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342 0.00011
NM_007294.4(BRCA1):c.694G>A (p.Asp232Asn) rs55975699 0.00011
NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln) rs143961484 0.00011
NM_014467.3(SRPX2):c.893G>A (p.Arg298His) rs369663551 0.00011
NM_014915.3(ANKRD26):c.-117G>A rs560384691 0.00011
NM_014915.3(ANKRD26):c.678A>T (p.Ile226=) rs143421550 0.00011
NM_015080.4(NRXN2):c.2883C>T (p.Asn961=) rs184068000 0.00011
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg) rs563858170 0.00011
NM_020717.5(SHROOM4):c.437G>A (p.Arg146Gln) rs199603614 0.00011
NM_020975.6(RET):c.957C>A (p.Leu319=) rs149926238 0.00011
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr) rs45510998 0.00011
NM_024675.4(PALB2):c.2027T>C (p.Ile676Thr) rs200875161 0.00011
NM_025074.7(FRAS1):c.1535-4G>A rs749569960 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_030632.3(ASXL3):c.195G>A (p.Gly65=) rs371104233 0.00011
NM_030665.4(RAI1):c.1580G>A (p.Arg527His) rs377314203 0.00011
NM_030928.4(CDT1):c.1357C>T (p.Arg453Trp) rs200672589 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_032444.4(SLX4):c.2160+8C>T rs374004875 0.00011
NM_032806.6(POMGNT2):c.1010A>G (p.Asn337Ser) rs200535361 0.00011
NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser) rs368028754 0.00011
NM_139276.3(STAT3):c.2082T>A (p.His694Gln) rs139701269 0.00011
NM_173495.3(PTCHD1):c.1110C>G (p.Asp370Glu) rs369968343 0.00011
NM_173495.3(PTCHD1):c.1767G>A (p.Glu589=) rs139310513 0.00011
NM_181303.2(NLGN3):c.435C>T (p.Asn145=) rs771275997 0.00011
NM_000032.5(ALAS2):c.1103G>A (p.Arg368Gln) rs371716491 0.00010
NM_000032.5(ALAS2):c.661G>A (p.Ala221Thr) rs753156183 0.00010
NM_000038.6(APC):c.4918C>T (p.Arg1640Trp) rs373440614 0.00010
NM_000051.4(ATM):c.6382T>C (p.Leu2128=) rs753646931 0.00010
NM_000051.4(ATM):c.7494T>C (p.Ser2498=) rs34393781 0.00010
NM_000061.3(BTK):c.895-10G>A rs370812397 0.00010
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849 0.00010
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr) rs63751225 0.00010
NM_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00010
NM_000368.5(TSC1):c.3125G>T (p.Ser1042Ile) rs148931779 0.00010
NM_000381.4(MID1):c.229G>A (p.Val77Ile) rs143416243 0.00010
NM_000381.4(MID1):c.302G>A (p.Arg101His) rs202142461 0.00010
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val) rs374244026 0.00010
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343 0.00010
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_000548.5(TSC2):c.4215C>T (p.Ala1405=) rs45517331 0.00010
NM_000751.3(CHRND):c.1048-7G>T rs369026633 0.00010
NM_001015877.2(PHF6):c.414C>T (p.Ser138=) rs200423380 0.00010
NM_001017420.3(ESCO2):c.383G>A (p.Gly128Glu) rs557813179 0.00010
NM_001040142.2(SCN2A):c.1759A>C (p.Ile587Leu) rs148275498 0.00010
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=) rs149534277 0.00010
NM_001042492.3(NF1):c.2178G>C (p.Val726=) rs369590240 0.00010
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=) rs200363918 0.00010
NM_001110556.2(FLNA):c.6307A>G (p.Arg2103Gly) rs370277156 0.00010
NM_001111125.3(IQSEC2):c.596C>T (p.Pro199Leu) rs782439813 0.00010
NM_001128840.3(CACNA1D):c.5473C>T (p.Arg1825Trp) rs144688228 0.00010
NM_001184880.2(PCDH19):c.942G>A (p.Leu314=) rs773740606 0.00010
NM_001267550.2(TTN):c.63917G>A (p.Arg21306His) rs202240487 0.00010
NM_001291303.3(FAT4):c.9597T>A (p.Asp3199Glu) rs568003396 0.00010
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460 0.00010
NM_001330078.2(NRXN1):c.3090A>C (p.Gly1030=) rs201886024 0.00010
NM_001330078.2(NRXN1):c.749T>A (p.Phe250Tyr) rs200646155 0.00010
NM_001347721.2(DYRK1A):c.489+9A>G rs187936450 0.00010
NM_001376.5(DYNC1H1):c.7758C>T (p.Ala2586=) rs145487328 0.00010
NM_001379110.1(SLC9A6):c.*12C>T rs190788663 0.00010
NM_001382347.1(MYO5A):c.1476T>C (p.Asn492=) rs765320441 0.00010
NM_001543.5(NDST1):c.2317-4C>G rs186262357 0.00010
NM_002334.4(LRP4):c.4613G>A (p.Arg1538Gln) rs140495790 0.00010
NM_002473.6(MYH9):c.2679C>A (p.Thr893=) rs145476120 0.00010
NM_002693.3(POLG):c.2724C>T (p.Ala908=) rs377390914 0.00010
NM_003072.5(SMARCA4):c.2460C>T (p.Tyr820=) rs372410282 0.00010
NM_003073.5(SMARCB1):c.1116G>A (p.Thr372=) rs117084604 0.00010
NM_003482.4(KMT2D):c.14080G>C (p.Glu4694Gln) rs587778483 0.00010
NM_003482.4(KMT2D):c.3027G>A (p.Val1009=) rs138227815 0.00010
NM_003482.4(KMT2D):c.6821C>T (p.Ser2274Leu) rs767236217 0.00010
NM_003491.4(NAA10):c.141C>T (p.Asp47=) rs375877098 0.00010
NM_003560.4(PLA2G6):c.1725G>A (p.Thr575=) rs200599704 0.00010
NM_005333.5(HCCS):c.521+7A>G rs372832496 0.00010
NM_005359.6(SMAD4):c.424+5G>A rs200772603 0.00010
NM_006180.6(NTRK2):c.1288C>T (p.His430Tyr) rs145968424 0.00010
NM_006231.4(POLE):c.4450A>C (p.Ile1484Leu) rs772734618 0.00010
NM_006517.5(SLC16A2):c.1502A>G (p.His501Arg) rs140303247 0.00010
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346 0.00010
NM_014159.7(SETD2):c.2798G>T (p.Gly933Val) rs202209141 0.00010
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497 0.00010
NM_016222.4(DDX41):c.38C>T (p.Thr13Ile) rs61736559 0.00010
NM_017654.4(SAMD9):c.3215T>C (p.Leu1072Pro) rs144312575 0.00010
NM_017755.6(NSUN2):c.1458T>C (p.His486=) rs200925761 0.00010
NM_023110.3(FGFR1):c.75G>A (p.Pro25=) rs17175757 0.00010
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619 0.00010
NM_024596.5(MCPH1):c.2274C>T (p.Asp758=) rs186136373 0.00010
NM_133444.3(ZNF526):c.1675G>A (p.Ala559Thr) rs200018551 0.00010
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_152703.5(SAMD9L):c.2528G>A (p.Arg843Gln) rs200160724 0.00010
NM_175875.5(SIX5):c.493C>T (p.Leu165=) rs368485758 0.00010
NM_201525.4(ADGRG1):c.1371C>T (p.Ser457=) rs747812668 0.00010
NM_205850.3(SLC24A5):c.1025C>T (p.Ala342Val) rs199924625 0.00010
NM_000051.4(ATM):c.4167A>G (p.Thr1389=) rs183214437 0.00009
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000053.4(ATP7B):c.3416C>G (p.Ala1139Gly) rs199924281 0.00009
NM_000059.4(BRCA2):c.4314C>T (p.Val1438=) rs730881590 0.00009
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768 0.00009
NM_000059.4(BRCA2):c.7601C>T (p.Ala2534Val) rs74047012 0.00009
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_000081.4(LYST):c.281C>T (p.Thr94Ile) rs777389303 0.00009
NM_000135.4(FANCA):c.1900+7T>A rs377401016 0.00009
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=) rs55758861 0.00009
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00009
NM_000162.5(GCK):c.9C>T (p.Asp3=) rs142553382 0.00009
NM_000179.3(MSH6):c.3024C>T (p.Thr1008=) rs587780675 0.00009
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999 0.00009
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905 0.00009
NM_000330.4(RS1):c.185-3213A>C rs143243059 0.00009
NM_000352.6(ABCC8):c.1189A>C (p.Asn397His) rs199763382 0.00009
NM_000426.4(LAMA2):c.8223G>A (p.Thr2741=) rs150596964 0.00009
NM_000458.4(HNF1B):c.1654-9T>A rs200579660 0.00009
NM_000489.6(ATRX):c.1606A>G (p.Met536Val) rs781865069 0.00009
NM_000489.6(ATRX):c.3527A>T (p.Lys1176Met) rs191563592 0.00009
NM_000516.7(GNAS):c.585+6C>T rs373084986 0.00009
NM_000546.6(TP53):c.474C>T (p.Arg158=) rs139200646 0.00009
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_000781.3(CYP11A1):c.1158-5C>T rs377242922 0.00009
NM_000834.5(GRIN2B):c.4311C>T (p.Ala1437=) rs112265127 0.00009
NM_001005361.3(DNM2):c.633C>T (p.Asp211=) rs200191870 0.00009
NM_001077365.2(POMT1):c.1149C>T (p.His383=) rs202121299 0.00009
NM_001083961.2(WDR62):c.1043+3A>G rs587784541 0.00009
NM_001100.4(ACTA1):c.867C>T (p.Ile289=) rs140074813 0.00009
NM_001110556.2(FLNA):c.2123G>A (p.Arg708Gln) rs371707134 0.00009
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile) rs61753966 0.00009
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_001130004.2(ACTN1):c.1926C>T (p.Ile642=) rs200843690 0.00009
NM_001130987.2(DYSF):c.4037C>T (p.Ala1346Val) rs201476613 0.00009
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile) rs376478015 0.00009
NM_001267550.2(TTN):c.16581C>T (p.Val5527=) rs373179717 0.00009
NM_001267550.2(TTN):c.17183-7C>T rs371785683 0.00009
NM_001278116.2(L1CAM):c.2537G>T (p.Arg846Leu) rs149737236 0.00009
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_001291303.3(FAT4):c.7813A>G (p.Ile2605Val) rs745697037 0.00009
NM_001374828.1(ARID1B):c.6963G>A (p.Ala2321=) rs754242891 0.00009
NM_001376.5(DYNC1H1):c.5655T>A (p.Thr1885=) rs538791873 0.00009
NM_001429.4(EP300):c.586A>G (p.Ile196Val) rs148693910 0.00009
NM_001493.3(GDI1):c.1280C>T (p.Thr427Met) rs138939602 0.00009
NM_002473.6(MYH9):c.4817C>T (p.Ser1606Leu) rs145319741 0.00009
NM_002582.4(PARN):c.272A>G (p.Tyr91Cys) rs201765587 0.00009
NM_002691.4(POLD1):c.2100A>G (p.Val700=) rs772468675 0.00009
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=) rs143238917 0.00009
NM_002875.5(RAD51):c.531-12C>T rs752351863 0.00009
NM_003072.5(SMARCA4):c.3975C>T (p.Arg1325=) rs144803359 0.00009
NM_003356.4(UCP3):c.922C>T (p.Arg308Trp) rs763155375 0.00009
NM_003383.5(VLDLR):c.315A>G (p.Pro105=) rs138500615 0.00009
NM_003560.4(PLA2G6):c.1742+12C>T rs11570739 0.00009
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_004360.5(CDH1):c.1359C>T (p.His453=) rs114861467 0.00009
NM_004380.3(CREBBP):c.681T>C (p.Pro227=) rs201193684 0.00009
NM_004525.3(LRP2):c.12296-4G>A rs375166826 0.00009
NM_005445.4(SMC3):c.1581T>C (p.His527=) rs182445355 0.00009
NM_005732.4(RAD50):c.1211A>G (p.Gln404Arg) rs200017020 0.00009
NM_006031.6(PCNT):c.236C>T (p.Pro79Leu) rs745598788 0.00009
NM_006031.6(PCNT):c.3403C>A (p.Arg1135=) rs143490174 0.00009
NM_006031.6(PCNT):c.4838C>T (p.Ala1613Val) rs546562229 0.00009
NM_006031.6(PCNT):c.7300C>A (p.Leu2434Ile) rs112633352 0.00009
NM_006060.6(IKZF1):c.342C>T (p.Asn114=) rs185632810 0.00009
NM_006757.4(TNNT3):c.328C>T (p.Arg110Cys) rs144957238 0.00009
NM_007194.4(CHEK2):c.*7T>C rs121908710 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_007294.4(BRCA1):c.*1327G>A rs184237074 0.00009
NM_014915.3(ANKRD26):c.2559+10T>A rs768668962 0.00009
NM_015107.3(PHF8):c.-4G>A rs782532619 0.00009
NM_015214.3(DDHD2):c.277T>C (p.Leu93=) rs544728429 0.00009
NM_015681.6(B9D1):c.341+2T>C rs143149764 0.00009
NM_016373.4(WWOX):c.1228G>T (p.Gly410Cys) rs76204496 0.00009
NM_017780.4(CHD7):c.8661G>A (p.Pro2887=) rs148517660 0.00009
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130 0.00009
NM_018249.6(CDK5RAP2):c.2482A>G (p.Lys828Glu) rs549081765 0.00009
NM_020987.5(ANK3):c.4314A>G (p.Ala1438=) rs199845615 0.00009
NM_022081.6(HPS4):c.373C>G (p.Leu125Val) rs180729981 0.00009
NM_024596.5(MCPH1):c.1458A>G (p.Lys486=) rs192003514 0.00009
NM_024675.4(PALB2):c.12T>C (p.Pro4=) rs567706422 0.00009
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr) rs200283306 0.00009
NM_024757.5(EHMT1):c.150G>A (p.Ala50=) rs371344592 0.00009
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys) rs373269573 0.00009
NM_024884.3(L2HGDH):c.1174A>G (p.Ile392Val) rs373172891 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_030632.3(ASXL3):c.5173G>A (p.Asp1725Asn) rs201072457 0.00009
NM_030665.4(RAI1):c.1925C>T (p.Ser642Leu) rs200061071 0.00009
NM_030665.4(RAI1):c.5366G>A (p.Arg1789Gln) rs368587743 0.00009
NM_032444.4(SLX4):c.2006G>A (p.Arg669His) rs200807331 0.00009
NM_032638.5(GATA2):c.445G>A (p.Gly149Arg) rs753645971 0.00009
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser) rs139928148 0.00009
NM_152703.5(SAMD9L):c.1356C>A (p.Ile452=) rs150450981 0.00009
NM_175914.5(HNF4A):c.427-5C>T rs374703326 0.00009
NM_181303.2(NLGN3):c.10C>T (p.Arg4Trp) rs376877146 0.00009
NM_181332.3(NLGN4X):c.955C>A (p.Arg319=) rs199769855 0.00009
NM_198253.3(TERT):c.1974G>A (p.Val658=) rs778496417 0.00009
NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys) rs143739249 0.00009
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys) rs140387675 0.00008
NM_000059.4(BRCA2):c.3420T>C (p.Ser1140=) rs118093942 0.00008
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097 0.00008
NM_000059.4(BRCA2):c.6748A>G (p.Thr2250Ala) rs80358899 0.00008
NM_000168.6(GLI3):c.1182A>G (p.Pro394=) rs748606221 0.00008
NM_000179.3(MSH6):c.3264C>T (p.Phe1088=) rs35621414 0.00008
NM_000208.4(INSR):c.2598C>T (p.Val866=) rs797045625 0.00008
NM_000233.4(LHCGR):c.680+9A>G rs766301939 0.00008
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln) rs146567853 0.00008
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr) rs63751454 0.00008
NM_000275.3(OCA2):c.1503+5G>A rs368124046 0.00008
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=) rs562715858 0.00008
NM_000372.5(TYR):c.613C>A (p.Pro205Thr) rs61754362 0.00008
NM_000377.3(WAS):c.285G>A (p.Leu95=) rs781799471 0.00008
NM_000489.6(ATRX):c.1868A>G (p.Lys623Arg) rs145678415 0.00008
NM_000535.7(PMS2):c.2127C>T (p.Phe709=) rs199943748 0.00008
NM_000540.3(RYR1):c.8715G>C (p.Leu2905=) rs368684717 0.00008
NM_000834.5(GRIN2B):c.140A>G (p.Glu47Gly) rs199526748 0.00008
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406 0.00008
NM_001018113.3(FANCB):c.127T>A (p.Leu43Ile) rs771007866 0.00008
NM_001040142.2(SCN2A):c.3372C>T (p.Ser1124=) rs571408286 0.00008
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe) rs201824349 0.00008
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His) rs144111588 0.00008
NM_001110792.2(MECP2):c.1473G>A (p.Thr491=) rs587781033 0.00008
NM_001123385.2(BCOR):c.739C>T (p.Leu247=) rs139023119 0.00008
NM_001130438.3(SPTAN1):c.6235G>A (p.Ala2079Thr) rs377253398 0.00008
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=) rs587780445 0.00008
NM_001244008.2(KIF1A):c.5070G>A (p.Thr1690=) rs201733233 0.00008
NM_001267550.2(TTN):c.31071C>T (p.His10357=) rs368973334 0.00008
NM_001278116.2(L1CAM):c.1759G>C (p.Gly587Arg) rs199888009 0.00008
NM_001278116.2(L1CAM):c.3642C>T (p.Ser1214=) rs782341083 0.00008
NM_001282531.3(ADNP):c.2617G>T (p.Asp873Tyr) rs147299402 0.00008
NM_001363711.2(DUOX2):c.3329G>A (p.Arg1110Gln) rs368488511 0.00008
NM_001429.4(EP300):c.6729C>T (p.Gly2243=) rs765194008 0.00008
NM_002397.5(MEF2C):c.363C>T (p.Asn121=) rs186648089 0.00008
NM_002547.3(OPHN1):c.1830C>T (p.Ser610=) rs368803937 0.00008
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln) rs375305567 0.00008
NM_003070.5(SMARCA2):c.915C>G (p.Pro305=) rs981565985 0.00008
NM_004360.5(CDH1):c.1020G>A (p.Thr340=) rs61747632 0.00008
NM_004360.5(CDH1):c.164T>G (p.Val55Gly) rs587778174 0.00008
NM_004360.5(CDH1):c.387+5G>A rs113055163 0.00008
NM_004380.3(CREBBP):c.164A>G (p.Asn55Ser) rs587783466 0.00008
NM_005045.4(RELN):c.8667+9_8667+13del rs755797350 0.00008
NM_005045.4(RELN):c.9708C>T (p.Ser3236=) rs200370282 0.00008
NM_005188.4(CBL):c.2569C>T (p.Leu857Phe) rs201631570 0.00008
NM_006031.6(PCNT):c.5994+4G>A rs781737632 0.00008
NM_006031.6(PCNT):c.6876C>T (p.Ala2292=) rs761995771 0.00008
NM_006031.6(PCNT):c.8895G>A (p.Ala2965=) rs572222540 0.00008
NM_006059.4(LAMC3):c.2949C>T (p.Cys983=) rs373660982 0.00008
NM_006420.3(ARFGEF2):c.2276+6C>T rs368941506 0.00008
NM_006516.4(SLC2A1):c.1395C>T (p.Ser465=) rs75852730 0.00008
NM_007175.8(ERLIN2):c.384C>T (p.Cys128=) rs200292614 0.00008
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630 0.00008
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val) rs80357465 0.00008
NM_012233.3(RAB3GAP1):c.724T>C (p.Tyr242His) rs577915245 0.00008
NM_017654.4(SAMD9):c.4586G>A (p.Arg1529His) rs149966534 0.00008
NM_018116.4(MSTO1):c.836G>A (p.Arg279His) rs563943670 0.00008
NM_020461.4(TUBGCP6):c.245T>G (p.Leu82Arg) rs200360214 0.00008
NM_022455.5(NSD1):c.2465C>G (p.Ser822Cys) rs377684553 0.00008
NM_022455.5(NSD1):c.6259-8A>T rs370529039 0.00008
NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val) rs398124386 0.00008
NM_022725.4(FANCF):c.349C>A (p.Pro117Thr) rs372625322 0.00008
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn) rs878855107 0.00008
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys) rs587778587 0.00008
NM_031407.7(HUWE1):c.3114C>T (p.Ile1038=) rs781848587 0.00008
NM_031407.7(HUWE1):c.9486C>T (p.Asn3162=) rs150660551 0.00008
NM_032122.5(DTNBP1):c.790A>G (p.Thr264Ala) rs753618520 0.00008
NM_032531.4(KIRREL3):c.88G>A (p.Val30Met) rs182260035 0.00008
NM_139058.3(ARX):c.303A>G (p.Ala101=) rs797045295 0.00008
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_181332.3(NLGN4X):c.1887C>T (p.Pro629=) rs778014568 0.00008
NM_198253.3(TERT):c.1392C>T (p.Phe464=) rs186596886 0.00008
NM_201384.3(PLEC):c.1650C>T (p.Ser550=) rs541271992 0.00008
NM_207346.3(TSEN54):c.1314-20G>A rs377740590 0.00008
NM_000032.5(ALAS2):c.220C>T (p.Leu74=) rs200307584 0.00007
NM_000051.4(ATM):c.496+4T>C rs587781375 0.00007
NM_000057.4(BLM):c.178T>A (p.Leu60Ile) rs138542210 0.00007
NM_000059.4(BRCA2):c.3568C>T (p.Arg1190Trp) rs80358604 0.00007
NM_000059.4(BRCA2):c.3839A>T (p.Asp1280Val) rs56337919 0.00007
NM_000135.4(FANCA):c.2222+7G>A rs374312736 0.00007
NM_000136.3(FANCC):c.531C>T (p.Pro177=) rs150070473 0.00007
NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe) rs13306411 0.00007
NM_000204.5(CFI):c.616T>A (p.Tyr206Asn) rs371623439 0.00007
NM_000249.4(MLH1):c.*4T>C rs750794400 0.00007
NM_000249.4(MLH1):c.42A>C (p.Thr14=) rs369737664 0.00007
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=) rs200200869 0.00007
NM_000455.5(STK11):c.-2G>T rs774072752 0.00007
NM_000455.5(STK11):c.357C>T (p.Asn119=) rs372511774 0.00007
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884 0.00007
NM_001017420.3(ESCO2):c.1132-7A>G rs80359862 0.00007
NM_001018115.3(FANCD2):c.1338A>C (p.Leu446=) rs752268889 0.00007
NM_001080517.3(SETD5):c.1525-5T>C rs532565367 0.00007
NM_001110556.2(FLNA):c.1587G>A (p.Lys529=) rs782615607 0.00007
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) rs192609440 0.00007
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys) rs143876280 0.00007
NM_001130438.3(SPTAN1):c.237+4C>T rs371350283 0.00007
NM_001134407.3(GRIN2A):c.2636A>G (p.Lys879Arg) rs183029507 0.00007
NM_001267550.2(TTN):c.73994C>T (p.Thr24665Met) rs144398602 0.00007
NM_001278116.2(L1CAM):c.2106G>A (p.Pro702=) rs200561489 0.00007
NM_001278116.2(L1CAM):c.618C>A (p.Asp206Glu) rs201474883 0.00007
NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp) rs369544574 0.00007
NM_003070.5(SMARCA2):c.1854C>T (p.Asp618=) rs140464170 0.00007
NM_003383.5(VLDLR):c.104C>T (p.Pro35Leu) rs113809568 0.00007
NM_003482.4(KMT2D):c.10966C>T (p.Arg3656Cys) rs201283589 0.00007
NM_003482.4(KMT2D):c.2646G>A (p.Leu882=) rs376227770 0.00007
NM_003482.4(KMT2D):c.7198C>G (p.Pro2400Ala) rs35111108 0.00007
NM_003611.3(OFD1):c.2260+8A>G rs768452237 0.00007
NM_005188.4(CBL):c.1299G>A (p.Pro433=) rs199633558 0.00007
NM_005445.4(SMC3):c.2493T>C (p.Tyr831=) rs112525060 0.00007
NM_005559.4(LAMA1):c.7897G>A (p.Gly2633Arg) rs769644598 0.00007
NM_005633.4(SOS1):c.3269C>T (p.Pro1090Leu) rs730881034 0.00007
NM_006005.3(WFS1):c.342C>T (p.Ala114=) rs201151892 0.00007
NM_006015.6(ARID1A):c.268A>G (p.Ser90Gly) rs752026201 0.00007
NM_006015.6(ARID1A):c.3816G>A (p.Ala1272=) rs763151089 0.00007
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_006772.3(SYNGAP1):c.2583G>A (p.Ser861=) rs375587730 0.00007
NM_006950.3(SYN1):c.506G>A (p.Arg169Gln) rs775109362 0.00007
NM_012210.4(TRIM32):c.238C>T (p.Leu80=) rs760820148 0.00007
NM_013296.5(GPSM2):c.57-10A>G rs184863735 0.00007
NM_014780.5(CUL7):c.2603A>G (p.Asn868Ser) rs149360738 0.00007
NM_014915.3(ANKRD26):c.301G>A (p.Asp101Asn) rs199753643 0.00007
NM_014915.3(ANKRD26):c.3286C>T (p.Arg1096Trp) rs367849518 0.00007
NM_018026.4(PACS1):c.2454C>T (p.Asp818=) rs142615271 0.00007
NM_018993.4(RIN2):c.2436C>T (p.Tyr812=) rs540923982 0.00007
NM_022168.4(IFIH1):c.2919G>C (p.Val973=) rs376116707 0.00007
NM_022455.5(NSD1):c.142A>G (p.Met48Val) rs200735877 0.00007
NM_022455.5(NSD1):c.3089T>C (p.Leu1030Ser) rs200856103 0.00007
NM_024757.5(EHMT1):c.2595C>T (p.Asp865=) rs780742937 0.00007
NM_025009.5(CEP135):c.203T>C (p.Leu68Ser) rs147697562 0.00007
NM_030665.4(RAI1):c.3158C>T (p.Pro1053Leu) rs748386061 0.00007
NM_032043.3(BRIP1):c.1629-11T>C rs375710640 0.00007
NM_054012.4(ASS1):c.805G>A (p.Val269Met) rs370595480 0.00007
NM_130839.5(UBE3A):c.2096A>C (p.Lys699Thr) rs202161423 0.00007
NM_152703.5(SAMD9L):c.4368T>A (p.Asn1456Lys) rs144026608 0.00007
NM_175914.5(HNF4A):c.569C>T (p.Pro190Leu) rs201749293 0.00007
NM_198252.3(GSN):c.1485C>T (p.Ile495=) rs374982895 0.00007
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr) rs139618756 0.00006
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998 0.00006
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn) rs148275069 0.00006
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287 0.00006
NM_000051.4(ATM):c.198A>G (p.Lys66=) rs540920248 0.00006
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000051.4(ATM):c.946T>C (p.Tyr316His) rs142317485 0.00006
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 0.00006
NM_000057.4(BLM):c.1044G>A (p.Met348Ile) rs184657475 0.00006
NM_000059.4(BRCA2):c.1362A>G (p.Lys454=) rs55919657 0.00006
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451 0.00006
NM_000059.4(BRCA2):c.4578A>G (p.Thr1526=) rs202022822 0.00006
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940 0.00006
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935 0.00006
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=) rs762647468 0.00006
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) rs144995231 0.00006
NM_000179.3(MSH6):c.1050C>T (p.Ala350=) rs730881802 0.00006
NM_000179.3(MSH6):c.2724A>G (p.Glu908=) rs35389622 0.00006
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile) rs376799914 0.00006
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser) rs63751467 0.00006
NM_000249.4(MLH1):c.207+12C>T rs121909450 0.00006
NM_000249.4(MLH1):c.2174G>A (p.Arg725His) rs566928243 0.00006
NM_000251.3(MSH2):c.1077-7A>G rs370807334 0.00006
NM_000251.3(MSH2):c.2271C>T (p.Tyr757=) rs56076152 0.00006
NM_000251.3(MSH2):c.944G>T (p.Gly315Val) rs202026056 0.00006
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 0.00006
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=) rs765895405 0.00006
NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn) rs531684936 0.00006
NM_000352.6(ABCC8):c.4733G>A (p.Arg1578His) rs143557848 0.00006
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406 0.00006
NM_000377.3(WAS):c.1299G>A (p.Ala433=) rs372649110 0.00006
NM_000458.4(HNF1B):c.313G>A (p.Glu105Lys) rs199572129 0.00006
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys) rs3738885 0.00006
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475 0.00006
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu) rs61752457 0.00006
NM_000535.7(PMS2):c.353+6A>G rs376449640 0.00006
NM_000535.7(PMS2):c.477G>A (p.Val159=) rs147701251 0.00006
NM_000540.3(RYR1):c.13350G>A (p.Gly4450=) rs748743312 0.00006
NM_000540.3(RYR1):c.8598C>T (p.Thr2866=) rs538250432 0.00006
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp) rs587784379 0.00006
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634 0.00006
NM_000546.6(TP53):c.618G>A (p.Leu206=) rs142813240 0.00006
NM_001002295.2(GATA3):c.216G>T (p.Val72=) rs560531559 0.00006
NM_001008537.3(NEXMIF):c.3386T>G (p.Phe1129Cys) rs202207238 0.00006
NM_001032382.2(PQBP1):c.489C>T (p.Arg163=) rs782276356 0.00006
NM_001040142.2(SCN2A):c.1959G>A (p.Val653=) rs200546427 0.00006
NM_001042492.3(NF1):c.5961G>A (p.Gln1987=) rs757536610 0.00006
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile) rs149055633 0.00006
NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg) rs587784543 0.00006
NM_001110556.2(FLNA):c.66C>T (p.Asp22=) rs782358007 0.00006
NM_001110792.2(MECP2):c.1107C>T (p.Ser369=) rs61750236 0.00006
NM_001128840.3(CACNA1D):c.2022C>G (p.Gly674=) rs574489819 0.00006
NM_001134407.3(GRIN2A):c.3103G>A (p.Asp1035Asn) rs540445580 0.00006
NM_001244008.2(KIF1A):c.883-3C>T rs111507743 0.00006
NM_001267550.2(TTN):c.20355G>A (p.Ser6785=) rs549470227 0.00006
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=) rs202102237 0.00006
NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val) rs373305248 0.00006
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val) rs397517630 0.00006
NM_001267550.2(TTN):c.75458C>T (p.Ser25153Leu) rs368058280 0.00006
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser) rs202011992 0.00006
NM_001323289.2(CDKL5):c.1564T>G (p.Leu522Val) rs781427744 0.00006
NM_001330078.2(NRXN1):c.1749C>T (p.Asp583=) rs199934259 0.00006
NM_001330078.2(NRXN1):c.4004C>T (p.Thr1335Ile) rs200672080 0.00006
NM_001330078.2(NRXN1):c.4248G>A (p.Pro1416=) rs151195816 0.00006
NM_001360.3(DHCR7):c.92G>A (p.Arg31His) rs370307688 0.00006
NM_001366722.1(GRIP1):c.2327G>A (p.Gly776Glu) rs181365280 0.00006
NM_001367721.1(CASK):c.1315-10A>G rs375004542 0.00006
NM_001368397.1(FRMPD4):c.3067T>C (p.Cys1023Arg) rs143929343 0.00006
NM_001374828.1(ARID1B):c.2142G>A (p.Met714Ile) rs142897795 0.00006
NM_001374828.1(ARID1B):c.2517C>T (p.Pro839=) rs541757080 0.00006
NM_001377.3(DYNC2H1):c.954A>G (p.Lys318=) rs778594253 0.00006
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe) rs150401343 0.00006
NM_001379200.1(TBX1):c.1352G>C (p.Arg451Pro) rs755937050 0.00006
NM_001987.5(ETV6):c.1133G>A (p.Arg378Gln) rs146280653 0.00006
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) rs121913502 0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_003038.5(SLC1A4):c.765C>T (p.Asn255=) rs200543536 0.00006
NM_003072.5(SMARCA4):c.1287G>A (p.Ala429=) rs143600641 0.00006
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 0.00006
NM_003193.5(TBCE):c.898+5A>T rs182294717 0.00006
NM_003289.4(TPM2):c.-10C>A rs372751531 0.00006
NM_003482.4(KMT2D):c.12270G>A (p.Gln4090=) rs370665309 0.00006
NM_003482.4(KMT2D):c.4392C>A (p.Val1464=) rs758265897 0.00006
NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=) rs143063879 0.00006
NM_004172.5(SLC1A3):c.1496G>A (p.Arg499Gln) rs138085358 0.00006
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg) rs201442000 0.00006
NM_004393.6(DAG1):c.735G>A (p.Pro245=) rs748164001 0.00006
NM_004958.4(MTOR):c.889G>A (p.Asp297Asn) rs141936187 0.00006
NM_005249.5(FOXG1):c.376G>A (p.Gly126Ser) rs796052455 0.00006
NM_005732.4(RAD50):c.1663A>G (p.Ile555Val) rs201120953 0.00006
NM_006015.6(ARID1A):c.2123A>C (p.Gln708Pro) rs367889013 0.00006
NM_006031.6(PCNT):c.1943C>G (p.Pro648Arg) rs752992538 0.00006
NM_006031.6(PCNT):c.6651G>T (p.Gly2217=) rs755119869 0.00006
NM_006031.6(PCNT):c.9826C>T (p.His3276Tyr) rs202170105 0.00006
NM_006060.6(IKZF1):c.810C>T (p.Asn270=) rs370585837 0.00006
NM_006180.6(NTRK2):c.746C>A (p.Ser249Tyr) rs772111782 0.00006
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735 0.00006
NM_006516.4(SLC2A1):c.19-5C>T rs376653618 0.00006
NM_006946.4(SPTBN2):c.1653+13C>T rs376349935 0.00006
NM_006946.4(SPTBN2):c.6755G>A (p.Arg2252His) rs529514462 0.00006
NM_007194.4(CHEK2):c.1260-10C>G rs730881706 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe) rs41286294 0.00006
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=) rs372002119 0.00006
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His) rs55746541 0.00006
NM_007294.4(BRCA1):c.2428A>T (p.Asn810Tyr) rs28897682 0.00006
NM_007294.4(BRCA1):c.301+7G>A rs80358113 0.00006
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile) rs80357191 0.00006
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691 0.00006
NM_012233.3(RAB3GAP1):c.816C>T (p.Cys272=) rs199898437 0.00006
NM_013296.5(GPSM2):c.1909C>T (p.Arg637Trp) rs189033496 0.00006
NM_014141.6(CNTNAP2):c.402+8A>G rs201311931 0.00006
NM_014795.4(ZEB2):c.2361T>C (p.Asn787=) rs201567433 0.00006
NM_016222.4(DDX41):c.1016G>A (p.Arg339His) rs774698335 0.00006
NM_017654.4(SAMD9):c.1370A>C (p.Glu457Ala) rs147552284 0.00006
NM_018026.4(PACS1):c.1233C>T (p.Ser411=) rs201671985 0.00006
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191 0.00006
NM_018943.3(TUBA8):c.249C>T (p.Tyr83=) rs774431958 0.00006
NM_020461.4(TUBGCP6):c.2065+9C>T rs781746721 0.00006
NM_020921.4(NIN):c.4898G>A (p.Arg1633Gln) rs375891968 0.00006
NM_020987.5(ANK3):c.2976G>A (p.Ala992=) rs747475542 0.00006
NM_020987.5(ANK3):c.4699G>A (p.Val1567Met) rs180798231 0.00006
NM_022095.4(ZNF335):c.1830C>G (p.Leu610=) rs60180055 0.00006
NM_022455.5(NSD1):c.395G>C (p.Cys132Ser) rs28932174 0.00006
NM_024301.5(FKRP):c.1140G>A (p.Gly380=) rs552260353 0.00006
NM_024598.4(USB1):c.525C>T (p.Val175=) rs956040185 0.00006
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434 0.00006
NM_024675.4(PALB2):c.1935G>A (p.Glu645=) rs141707455 0.00006
NM_024675.4(PALB2):c.768C>T (p.Ser256=) rs45487491 0.00006
NM_025114.4(CEP290):c.1440A>G (p.Glu480=) rs777299440 0.00006
NM_031407.7(HUWE1):c.147C>T (p.Cys49=) rs149435515 0.00006
NM_032043.3(BRIP1):c.1629-3T>C rs587780828 0.00006
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=) rs374362388 0.00006
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr) rs587780235 0.00006
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094 0.00006
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser) rs200058876 0.00006
NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=) rs200412477 0.00006
NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg) rs587780255 0.00006
NM_058216.3(RAD51C):c.870T>A (p.Ile290=) rs376402418 0.00006
NM_133433.4(NIPBL):c.6589+9A>T rs370709104 0.00006
NM_139058.3(ARX):c.211A>T (p.Ser71Cys) rs587783194 0.00006
NM_152564.5(VPS13B):c.9645C>T (p.Leu3215=) rs373968888 0.00006
NM_152703.5(SAMD9L):c.2499G>A (p.Leu833=) rs149822295 0.00006
NM_152703.5(SAMD9L):c.4512T>G (p.Asn1504Lys) rs200615225 0.00006
NM_174916.3(UBR1):c.2678C>T (p.Thr893Ile) rs199513326 0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_177550.5(SLC13A5):c.714C>T (p.Asn238=) rs754553205 0.00006
NM_182961.4(SYNE1):c.20027G>A (p.Arg6676Gln) rs190673256 0.00006
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636 0.00006
NM_194318.4(B3GLCT):c.71-9T>C rs569540121 0.00006
NM_198253.3(TERT):c.-57A>C rs878855297 0.00006
NM_000051.4(ATM):c.7983T>C (p.Asp2661=) rs143972422 0.00005
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136 0.00005
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932 0.00005
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn) rs80359051 0.00005
NM_000059.4(BRCA2):c.9738C>T (p.Ala3246=) rs80359811 0.00005
NM_000092.5(COL4A4):c.928C>T (p.Arg310Trp) rs200817090 0.00005
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901 0.00005
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly) rs587779905 0.00005
NM_000146.4(FTL):c.*8C>T rs373178636 0.00005
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169 0.00005
NM_000276.4(OCRL):c.50G>C (p.Gly17Ala) rs768913997 0.00005
NM_000352.6(ABCC8):c.4482C>T (p.Ala1494=) rs374853931 0.00005
NM_000381.4(MID1):c.342C>T (p.Ala114=) rs765698306 0.00005
NM_000419.5(ITGA2B):c.1210+8A>G rs771317292 0.00005
NM_000455.5(STK11):c.920+6C>T rs730881964 0.00005
NM_000455.5(STK11):c.970C>G (p.Pro324Ala) rs549474196 0.00005
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_000540.3(RYR1):c.2199G>C (p.Gly733=) rs749285937 0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_001008537.3(NEXMIF):c.2669C>T (p.Pro890Leu) rs377201508 0.00005
NM_001008537.3(NEXMIF):c.381G>A (p.Glu127=) rs148717498 0.00005
NM_001083961.2(WDR62):c.1509C>T (p.Asp503=) rs758922011 0.00005
NM_001110556.2(FLNA):c.6394G>A (p.Val2132Met) rs201396725 0.00005
NM_001110792.2(MECP2):c.1111T>C (p.Ser371Pro) rs61752371 0.00005
NM_001110792.2(MECP2):c.510G>A (p.Thr170=) rs61748413 0.00005
NM_001123385.2(BCOR):c.3711G>A (p.Val1237=) rs753256966 0.00005
NM_001184880.2(PCDH19):c.1644G>A (p.Thr548=) rs372952752 0.00005
NM_001184880.2(PCDH19):c.3320G>A (p.Arg1107His) rs200021840 0.00005
NM_001244008.2(KIF1A):c.1949+7C>T rs555750413 0.00005
NM_001267550.2(TTN):c.55932T>C (p.Phe18644=) rs755839294 0.00005
NM_001267550.2(TTN):c.56535G>A (p.Thr18845=) rs529480368 0.00005
NM_001271.4(CHD2):c.4482C>T (p.Asn1494=) rs565686460 0.00005
NM_001278116.2(L1CAM):c.2872+9G>A rs398123363 0.00005
NM_001278116.2(L1CAM):c.400+9C>T rs201057718 0.00005
NM_001330078.2(NRXN1):c.3219C>T (p.Asn1073=) rs563089155 0.00005
NM_001349338.3(FOXP1):c.107G>A (p.Arg36Gln) rs200643313 0.00005
NM_001365999.1(SZT2):c.4503G>A (p.Val1501=) rs367690658 0.00005
NM_001372044.2(SHANK3):c.2184T>C (p.Gly728=) rs747708688 0.00005
NM_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile) rs372740994 0.00005
NM_001378120.1(MBD5):c.692T>C (p.Ile231Thr) rs199530726 0.00005
NM_001378778.1(MPDZ):c.1197A>G (p.Lys399=) rs767284244 0.00005
NM_001999.4(FBN2):c.3690A>G (p.Gly1230=) rs774807410 0.00005
NM_002547.3(OPHN1):c.1722G>A (p.Pro574=) rs752918613 0.00005
NM_002547.3(OPHN1):c.702+8T>C rs369382527 0.00005
NM_002834.5(PTPN11):c.990A>C (p.Thr330=) rs369739920 0.00005
NM_003070.5(SMARCA2):c.482C>T (p.Pro161Leu) rs149394378 0.00005
NM_003467.3(CXCR4):c.219G>A (p.Thr73=) rs909200339 0.00005
NM_003482.4(KMT2D):c.5821A>G (p.Met1941Val) rs372271746 0.00005
NM_004519.4(KCNQ3):c.1995G>A (p.Ser665=) rs759776061 0.00005
NM_004560.4(ROR2):c.2444C>T (p.Pro815Leu) rs770921333 0.00005
NM_004722.4(AP4M1):c.1140G>A (p.Met380Ile) rs574878636 0.00005
NM_005188.4(CBL):c.1528C>G (p.Pro510Ala) rs538054260 0.00005
NM_005629.4(SLC6A8):c.1713C>T (p.Cys571=) rs782244505 0.00005
NM_005912.3(MC4R):c.913C>T (p.Arg305Trp) rs549442687 0.00005
NM_006015.6(ARID1A):c.1329C>T (p.Gly443=) rs369923774 0.00005
NM_006031.6(PCNT):c.6141C>T (p.Asp2047=) rs144445891 0.00005
NM_006231.4(POLE):c.5253C>T (p.Ala1751=) rs765888059 0.00005
NM_006420.3(ARFGEF2):c.48G>A (p.Glu16=) rs760130632 0.00005
NM_007118.4(TRIO):c.3067-4A>T rs200412925 0.00005
NM_007294.4(BRCA1):c.1974G>C (p.Met658Ile) rs55678461 0.00005
NM_014141.6(CNTNAP2):c.3180G>A (p.Ala1060=) rs372645983 0.00005
NM_014915.3(ANKRD26):c.756G>A (p.Pro252=) rs201128867 0.00005
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550 0.00005
NM_017654.4(SAMD9):c.3519A>C (p.Arg1173Ser) rs566059003 0.00005
NM_017654.4(SAMD9):c.4396G>A (p.Gly1466Arg) rs755857667 0.00005
NM_018136.5(ASPM):c.9657T>G (p.Ser3219=) rs756879923 0.00005
NM_020461.4(TUBGCP6):c.4954+10C>T rs200824422 0.00005
NM_021008.4(DEAF1):c.1010C>G (p.Pro337Arg) rs372135504 0.00005
NM_021969.3(NR0B2):c.532G>A (p.Asp178Asn) rs201991593 0.00005
NM_025074.7(FRAS1):c.4807C>T (p.Arg1603Trp) rs961911715 0.00005
NM_025265.4(TSEN2):c.389A>C (p.Lys130Thr) rs142211875 0.00005
NM_030665.4(RAI1):c.3030C>A (p.Ala1010=) rs542714936 0.00005
NM_030665.4(RAI1):c.925G>A (p.Ala309Thr) rs542056789 0.00005
NM_031466.8(TRAPPC9):c.-73G>C rs767996463 0.00005
NM_032806.6(POMGNT2):c.12G>A (p.Ser4=) rs368531523 0.00005
NM_133433.4(NIPBL):c.1591A>G (p.Thr531Ala) rs587783890 0.00005
NM_152384.3(BBS5):c.-2C>A rs199854347 0.00005
NM_152564.5(VPS13B):c.10626G>A (p.Val3542=) rs139227281 0.00005
NM_175914.5(HNF4A):c.241G>A (p.Val81Met) rs772786482 0.00005
NM_181741.4(ORC4):c.763-4T>G rs769409347 0.00005
NM_198576.4(AGRN):c.526C>T (p.Leu176=) rs544749044 0.00005
NM_000026.4(ADSL):c.886C>T (p.Arg296Trp) rs536254357 0.00004
NM_000032.5(ALAS2):c.713A>T (p.Glu238Val) rs137978657 0.00004
NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala) rs781900720 0.00004
NM_000047.3(ARSL):c.36G>C (p.Arg12Ser) rs122460151 0.00004
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys) rs587779816 0.00004
NM_000051.4(ATM):c.1888G>A (p.Val630Met) rs148191382 0.00004
NM_000051.4(ATM):c.2040C>T (p.Phe680=) rs587780855 0.00004
NM_000051.4(ATM):c.2610C>T (p.Asn870=) rs587780618 0.00004
NM_000051.4(ATM):c.3577-6G>A rs56006345 0.00004
NM_000051.4(ATM):c.6114C>T (p.His2038=) rs774993357 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser) rs587783318 0.00004
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala) rs56016241 0.00004
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp) rs398122731 0.00004
NM_000059.4(BRCA2):c.267G>A (p.Pro89=) rs587780648 0.00004
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser) rs80358531 0.00004
NM_000059.4(BRCA2):c.3840T>C (p.Asp1280=) rs786201327 0.00004
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803 0.00004
NM_000059.4(BRCA2):c.7505G>A (p.Arg2502His) rs56070345 0.00004
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978 0.00004
NM_000059.4(BRCA2):c.8702G>A (p.Gly2901Asp) rs80359129 0.00004
NM_000064.4(C3):c.4803C>T (p.His1601=) rs762332809 0.00004
NM_000135.4(FANCA):c.793-9T>C rs757500718 0.00004
NM_000136.3(FANCC):c.*7C>T rs372511678 0.00004
NM_000144.5(FXN):c.389G>T (p.Gly130Val) rs104894107 0.00004
NM_000179.3(MSH6):c.3729A>G (p.Thr1243=) rs773807182 0.00004
NM_000179.3(MSH6):c.4001+10dup rs730882138 0.00004
NM_000197.2(HSD17B3):c.389A>G (p.Asn130Ser) rs119481079 0.00004
NM_000237.3(LPL):c.662T>C (p.Ile221Thr) rs118204061 0.00004
NM_000249.4(MLH1):c.808A>G (p.Thr270Ala) rs371302926 0.00004
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) rs757286784 0.00004
NM_000334.4(SCN4A):c.4288+6C>T rs148187651 0.00004
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg) rs137852676 0.00004
NM_000377.3(WAS):c.1150C>T (p.Pro384Ser) rs782761074 0.00004
NM_000381.4(MID1):c.420C>G (p.Ser140=) rs201845920 0.00004
NM_000426.4(LAMA2):c.6539A>T (p.Asp2180Val) rs567385461 0.00004
NM_000465.4(BARD1):c.253G>T (p.Val85Leu) rs370359540 0.00004
NM_000465.4(BARD1):c.365-7C>T rs745929983 0.00004
NM_000489.6(ATRX):c.1438A>G (p.Thr480Ala) rs587780284 0.00004
NM_000525.4(KCNJ11):c.567C>T (p.Ile189=) rs114899765 0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_000546.6(TP53):c.102C>G (p.Pro34=) rs11575998 0.00004
NM_000548.5(TSC2):c.2639+10C>T rs137854378 0.00004
NM_001008537.3(NEXMIF):c.2130G>A (p.Lys710=) rs749479992 0.00004
NM_001012339.3(DNAJC21):c.414A>G (p.Gly138=) rs888250694 0.00004
NM_001042492.3(NF1):c.3484A>G (p.Met1162Val) rs773968270 0.00004
NM_001080517.3(SETD5):c.1272A>G (p.Pro424=) rs760893886 0.00004
NM_001110556.2(FLNA):c.1964G>A (p.Arg655His) rs782563602 0.00004
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu) rs782426283 0.00004
NM_001110792.2(MECP2):c.750G>A (p.Gly250=) rs369813305 0.00004
NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr) rs782239416 0.00004
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384 0.00004
NM_001134407.3(GRIN2A):c.2664G>A (p.Thr888=) rs113847665 0.00004
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353 0.00004
NM_001160372.4(TRAPPC9):c.2037G>A (p.Pro679=) rs371880751 0.00004
NM_001160372.4(TRAPPC9):c.2811-5C>T rs534788967 0.00004
NM_001184880.2(PCDH19):c.224A>G (p.Asn75Ser) rs796052790 0.00004
NM_001191061.2(SLC25A22):c.885C>T (p.Ile295=) rs543285265 0.00004
NM_001197104.2(KMT2A):c.10835+1G>C rs141515578 0.00004
NM_001267550.2(TTN):c.24107C>T (p.Ser8036Leu) rs200598509 0.00004
NM_001267550.2(TTN):c.47129G>A (p.Arg15710His) rs185689179 0.00004
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His) rs140914855 0.00004
NM_001323289.2(CDKL5):c.2465G>A (p.Arg822His) rs376429571 0.00004
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=) rs140332992 0.00004
NM_001330078.2(NRXN1):c.3675G>A (p.Thr1225=) rs200179221 0.00004
NM_001330078.2(NRXN1):c.4236C>T (p.Gly1412=) rs587781101 0.00004
NM_001347721.2(DYRK1A):c.1509G>A (p.Ser503=) rs763907769 0.00004
NM_001349338.3(FOXP1):c.1233C>T (p.Thr411=) rs147995584 0.00004
NM_001353921.2(ARHGEF9):c.372C>T (p.His124=) rs138198839 0.00004
NM_001360.3(DHCR7):c.1091C>T (p.Thr364Met) rs567600444 0.00004
NM_001365999.1(SZT2):c.1272A>G (p.Gln424=) rs780157180 0.00004
NM_001368397.1(FRMPD4):c.2048A>G (p.Glu683Gly) rs760597864 0.00004
NM_001368397.1(FRMPD4):c.3938G>A (p.Arg1313Gln) rs759503727 0.00004
NM_001372044.2(SHANK3):c.1513G>A (p.Gly505Ser) rs563454435 0.00004
NM_001374828.1(ARID1B):c.4509C>T (p.Tyr1503=) rs377021700 0.00004
NM_001374828.1(ARID1B):c.4831C>T (p.Pro1611Ser) rs765827636 0.00004
NM_001376.5(DYNC1H1):c.8637+9C>T rs202042156 0.00004
NM_001378120.1(MBD5):c.4970C>A (p.Pro1657His) rs775673512 0.00004
NM_001378120.1(MBD5):c.796A>G (p.Ile266Val) rs568826753 0.00004
NM_001386393.1(PANK2):c.881A>T (p.Asn294Ile) rs752078407 0.00004
NM_001543.5(NDST1):c.600C>T (p.Ile200=) rs762510239 0.00004
NM_001614.5(ACTG1):c.81C>T (p.Pro27=) rs11549230 0.00004
NM_001754.5(RUNX1):c.1355T>G (p.Val452Gly) rs751710767 0.00004
NM_002397.5(MEF2C):c.312C>T (p.Asp104=) rs587781034 0.00004
NM_002485.5(NBN):c.1089C>T (p.Tyr363=) rs121908974 0.00004
NM_002485.5(NBN):c.278C>T (p.Ser93Leu) rs12721593 0.00004
NM_002691.4(POLD1):c.1504G>A (p.Asp502Asn) rs777866589 0.00004
NM_002691.4(POLD1):c.2250+7G>A rs775363857 0.00004
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser) rs751437780 0.00004
NM_003001.5(SDHC):c.490A>T (p.Met164Leu) rs200375156 0.00004
NM_003482.4(KMT2D):c.10312G>A (p.Val3438Met) rs35087111 0.00004
NM_003482.4(KMT2D):c.12039A>G (p.Gly4013=) rs567323882 0.00004
NM_003482.4(KMT2D):c.1296C>T (p.Ala432=) rs547058856 0.00004
NM_003482.4(KMT2D):c.16412+13G>A rs587783701 0.00004
NM_003482.4(KMT2D):c.7498G>A (p.Ala2500Thr) rs746638965 0.00004
NM_003482.4(KMT2D):c.7571C>T (p.Thr2524Met) rs760263014 0.00004
NM_003482.4(KMT2D):c.9430G>A (p.Ala3144Thr) rs752428122 0.00004
NM_004268.5(MED17):c.1449C>G (p.Gly483=) rs61754525 0.00004
NM_004820.5(CYP7B1):c.850+18A>T rs374380529 0.00004
NM_005188.4(CBL):c.1477C>T (p.Leu493Phe) rs730880434 0.00004
NM_005249.5(FOXG1):c.455G>C (p.Gly152Ala) rs796052460 0.00004
NM_005359.6(SMAD4):c.228A>G (p.Arg76=) rs587780556 0.00004
NM_005445.4(SMC3):c.2268+4C>T rs587784426 0.00004
NM_005445.4(SMC3):c.507C>T (p.Asp169=) rs370909218 0.00004
NM_005491.5(MAMLD1):c.1320A>G (p.Gln440=) rs151207889 0.00004
NM_006005.3(WFS1):c.2185G>A (p.Asp729Asn) rs575778537 0.00004
NM_006009.4(TUBA1A):c.1248T>C (p.Gly416=) rs3206694 0.00004
NM_006031.6(PCNT):c.1246A>G (p.Ile416Val) rs368199588 0.00004
NM_006031.6(PCNT):c.1281C>T (p.His427=) rs142413458 0.00004
NM_006031.6(PCNT):c.7568C>T (p.Ala2523Val) rs368569999 0.00004
NM_006060.6(IKZF1):c.754G>A (p.Asp252Asn) rs762538092 0.00004
NM_006231.4(POLE):c.4150-6C>T rs756837862 0.00004
NM_006231.4(POLE):c.5174-6G>C rs770466844 0.00004
NM_006361.6(HOXB13):c.602-7C>A rs370167148 0.00004
NM_006420.3(ARFGEF2):c.2253A>G (p.Ala751=) rs770578384 0.00004
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val) rs769943554 0.00004
NM_006662.3(SRCAP):c.5303T>C (p.Leu1768Pro) rs587784443 0.00004
NM_006662.3(SRCAP):c.8455A>G (p.Thr2819Ala) rs779992354 0.00004
NM_006772.3(SYNGAP1):c.3834C>T (p.Pro1278=) rs555363112 0.00004
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His) rs56272539 0.00004
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682 0.00004
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175 0.00004
NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys) rs41293457 0.00004
NM_007294.4(BRCA1):c.81-11del rs273902788 0.00004
NM_007327.4(GRIN1):c.2499C>T (p.Ile833=) rs146086141 0.00004
NM_012156.2(EPB41L1):c.1661C>A (p.Ala554Asp) rs778642222 0.00004
NM_012156.2(EPB41L1):c.1772C>T (p.Thr591Met) rs375302378 0.00004
NM_012233.3(RAB3GAP1):c.2394C>T (p.Leu798=) rs550794953 0.00004
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884 0.00004
NM_014444.5(TUBGCP4):c.579dup (p.Gly194fs) rs794726855 0.00004
NM_014795.4(ZEB2):c.332-6C>T rs730881186 0.00004
NM_015450.3(POT1):c.1087C>T (p.Arg363Ter) rs756198077 0.00004
NM_016222.4(DDX41):c.1622-3C>T rs200471726 0.00004
NM_016373.4(WWOX):c.1146C>T (p.Cys382=) rs780939546 0.00004
NM_017780.4(CHD7):c.361G>A (p.Gly121Ser) rs587783439 0.00004
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=) rs188188906 0.00004
NM_017780.4(CHD7):c.8213C>T (p.Thr2738Met) rs761409446 0.00004
NM_018062.4(FANCL):c.755T>G (p.Phe252Cys) rs139801716 0.00004
NM_018136.5(ASPM):c.932G>C (p.Ser311Thr) rs202012380 0.00004
NM_018249.6(CDK5RAP2):c.524_528del (p.Gln175fs) rs587783393 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_020987.5(ANK3):c.6072C>T (p.Ser2024=) rs532643979 0.00004
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp) rs775076977 0.00004
NM_022095.4(ZNF335):c.3444C>T (p.Thr1148=) rs759216909 0.00004
NM_022552.5(DNMT3A):c.2652G>A (p.Ala884=) rs537647207 0.00004
NM_024596.5(MCPH1):c.1233A>G (p.Ser411=) rs201026769 0.00004
NM_024596.5(MCPH1):c.1869_1870del (p.Ser623_Cys624insTer) rs587783735 0.00004
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val) rs537258442 0.00004
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser) rs377085677 0.00004
NM_024675.4(PALB2):c.2067G>A (p.Ser689=) rs371149159 0.00004
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) rs373478248 0.00004
NM_025099.6(CTC1):c.3222-4A>G rs562479062 0.00004
NM_025114.4(CEP290):c.5896A>G (p.Thr1966Ala) rs780570235 0.00004
NM_030632.3(ASXL3):c.1214C>T (p.Pro405Leu) rs762217973 0.00004
NM_030632.3(ASXL3):c.1654C>T (p.His552Tyr) rs200334892 0.00004
NM_030665.4(RAI1):c.187G>A (p.Ala63Thr) rs758424396 0.00004
NM_030665.4(RAI1):c.3143C>A (p.Ala1048Asp) rs758990336 0.00004
NM_030665.4(RAI1):c.3884C>T (p.Pro1295Leu) rs376809177 0.00004
NM_030665.4(RAI1):c.5204C>T (p.Pro1735Leu) rs376429075 0.00004
NM_030665.4(RAI1):c.719C>T (p.Thr240Ile) rs142646842 0.00004
NM_031407.7(HUWE1):c.1470A>G (p.Glu490=) rs145143264 0.00004
NM_032806.6(POMGNT2):c.1181G>A (p.Arg394Gln) rs199612856 0.00004
NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser) rs775224457 0.00004
NM_139058.3(ARX):c.1462A>G (p.Met488Val) rs767404024 0.00004
NM_152703.5(SAMD9L):c.3687G>A (p.Val1229=) rs774463519 0.00004
NM_152743.4(BRAT1):c.491C>T (p.Ala164Val) rs771600489 0.00004
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln) rs386834182 0.00004
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys) rs374726751 0.00004
NM_181741.4(ORC4):c.521A>G (p.Tyr174Cys) rs387906847 0.00004
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) rs199422297 0.00004
NM_201384.3(PLEC):c.6642G>A (p.Ala2214=) rs559736151 0.00004
NM_000038.6(APC):c.7415C>T (p.Ala2472Val) rs200399245 0.00003
NM_000059.4(BRCA2):c.316+12A>G rs186419778 0.00003
NM_000059.4(BRCA2):c.3462C>T (p.Thr1154=) rs4986856 0.00003
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833 0.00003
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000059.4(BRCA2):c.9458G>C (p.Gly3153Ala) rs80359220 0.00003
NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter) rs778865255 0.00003
NM_000135.4(FANCA):c.522+9G>C rs113051956 0.00003
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078 0.00003
NM_000179.3(MSH6):c.-2G>T rs374748889 0.00003
NM_000179.3(MSH6):c.-8C>T rs565211544 0.00003
NM_000212.3(ITGB3):c.1297C>G (p.Pro433Ala) rs121918448 0.00003
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg) rs587779965 0.00003
NM_000251.3(MSH2):c.2458+8C>G rs189025757 0.00003
NM_000251.3(MSH2):c.835C>G (p.Leu279Val) rs375351205 0.00003
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175 0.00003
NM_000314.8(PTEN):c.855A>G (p.Glu285=) rs751888926 0.00003
NM_000330.4(RS1):c.184+3194A>G rs587783162 0.00003
NM_000352.6(ABCC8):c.1332+9T>C rs775059899 0.00003
NM_000352.6(ABCC8):c.2921-9G>A rs757171524 0.00003
NM_000352.6(ABCC8):c.313C>T (p.His105Tyr) rs766068851 0.00003
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His) rs769279368 0.00003
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295 0.00003
NM_000388.4(CASR):c.1668G>A (p.Glu556=) rs186279271 0.00003
NM_000426.4(LAMA2):c.4471G>A (p.Asp1491Asn) rs375640462 0.00003
NM_000426.4(LAMA2):c.5688C>T (p.His1896=) rs573779258 0.00003
NM_000439.5(PCSK1):c.470C>T (p.Thr157Met) rs200462856 0.00003
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn) rs369561166 0.00003
NM_000497.4(CYP11B1):c.395+6C>T rs553707049 0.00003
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042 0.00003
NM_000540.3(RYR1):c.1140G>A (p.Glu380=) rs35189056 0.00003
NM_000545.8(HNF1A):c.900C>T (p.Pro300=) rs762555237 0.00003
NM_000548.5(TSC2):c.1258-5G>T rs925954967 0.00003
NM_000834.5(GRIN2B):c.4077C>T (p.Ala1359=) rs375217280 0.00003
NM_001008270.3(PRSS37):c.643G>A (p.Val215Ile) rs745313899 0.00003
NM_001008537.3(NEXMIF):c.3637G>A (p.Gly1213Ser) rs757442837 0.00003
NM_001018113.3(FANCB):c.2435A>G (p.Tyr812Cys) rs780116069 0.00003
NM_001040142.2(SCN2A):c.2563-4C>A rs561375550 0.00003
NM_001040142.2(SCN2A):c.2673C>T (p.Ile891=) rs529842407 0.00003
NM_001042492.3(NF1):c.*4T>C rs201044568 0.00003
NM_001079872.2(CUL4B):c.1797C>T (p.Val599=) rs751833365 0.00003
NM_001110556.2(FLNA):c.1291G>C (p.Glu431Gln) rs781915319 0.00003
NM_001110556.2(FLNA):c.2613C>T (p.Asp871=) rs188212919 0.00003
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) rs140258520 0.00003
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met) rs193922678 0.00003
NM_001110792.2(MECP2):c.260C>T (p.Pro87Leu) rs267608440 0.00003
NM_001111125.3(IQSEC2):c.3663A>G (p.Pro1221=) rs797045629 0.00003
NM_001128126.3(AP4S1):c.124C>A (p.Arg42=) rs387906970 0.00003
NM_001134407.3(GRIN2A):c.3578T>G (p.Leu1193Trp) rs75761674 0.00003
NM_001145358.2(SIN3A):c.2852-6C>T rs760515812 0.00003
NM_001160372.4(TRAPPC9):c.1768+7C>T rs587780485 0.00003
NM_001161352.2(KCNMA1):c.1680C>A (p.Ala560=) rs2229008 0.00003
NM_001182.5(ALDH7A1):c.1489+4C>T rs775065938 0.00003
NM_001184.4(ATR):c.2503T>C (p.Leu835=) rs377134163 0.00003
NM_001184880.2(PCDH19):c.1548C>T (p.Tyr516=) rs587784295 0.00003
NM_001244008.2(KIF1A):c.4584C>T (p.Ser1528=) rs747267404 0.00003
NM_001282531.3(ADNP):c.2849A>G (p.His950Arg) rs1282824691 0.00003
NM_001308093.3(GATA4):c.1183C>A (p.Pro395Thr) rs200319078 0.00003
NM_001330078.2(NRXN1):c.777C>T (p.Asp259=) rs587780407 0.00003
NM_001365088.1(SLC12A6):c.1005C>T (p.Ile335=) rs35855196 0.00003
NM_001365999.1(SZT2):c.5872C>T (p.Arg1958Ter) rs145577757 0.00003
NM_001374828.1(ARID1B):c.1238G>C (p.Gly413Ala) rs749315126 0.00003
NM_001374828.1(ARID1B):c.3009G>A (p.Pro1003=) rs587779742 0.00003
NM_001374828.1(ARID1B):c.3260T>C (p.Met1087Thr) rs371523255 0.00003
NM_001374828.1(ARID1B):c.5325G>T (p.Thr1775=) rs146620657 0.00003
NM_001376.5(DYNC1H1):c.10548C>T (p.Tyr3516=) rs760532492 0.00003
NM_001378418.1(TCF20):c.2887G>A (p.Gly963Ser) rs200854743 0.00003
NM_001378454.1(ALMS1):c.9460A>T (p.Thr3154Ser) rs553507775 0.00003
NM_001493.3(GDI1):c.936C>T (p.Asn312=) rs782320151 0.00003
NM_002834.5(PTPN11):c.1282G>A (p.Val428Met) rs397507536 0.00003
NM_002834.5(PTPN11):c.1404G>C (p.Thr468=) rs587781130 0.00003
NM_002834.5(PTPN11):c.879C>T (p.His293=) rs117730996 0.00003
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_003072.5(SMARCA4):c.3066C>T (p.Ser1022=) rs149111403 0.00003
NM_003383.5(VLDLR):c.1245C>T (p.Gly415=) rs746308049 0.00003
NM_003482.4(KMT2D):c.15080G>A (p.Arg5027Gln) rs774403945 0.00003
NM_003482.4(KMT2D):c.3907-9T>G rs367751308 0.00003
NM_003482.4(KMT2D):c.4941C>T (p.Thr1647=) rs748740454 0.00003
NM_003482.4(KMT2D):c.7035G>A (p.Leu2345=) rs398123756 0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_004153.4(ORC1):c.2571G>A (p.Ala857=) rs192392819 0.00003
NM_004360.5(CDH1):c.184G>A (p.Gly62Ser) rs587781898 0.00003
NM_004360.5(CDH1):c.688-4T>C rs781633588 0.00003
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=) rs200287696 0.00003
NM_004523.4(KIF11):c.2106G>T (p.Lys702Asn) rs189734472 0.00003
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter) rs754859909 0.00003
NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr) rs797045971 0.00003
NM_005912.3(MC4R):c.750_751del (p.Ile251fs) rs13447339 0.00003
NM_006031.6(PCNT):c.1743C>T (p.Leu581=) rs375581809 0.00003
NM_006031.6(PCNT):c.2154+8G>A rs778407564 0.00003
NM_006031.6(PCNT):c.3469G>C (p.Ala1157Pro) rs778900170 0.00003
NM_006031.6(PCNT):c.3571C>T (p.Leu1191=) rs370240856 0.00003
NM_006265.3(RAD21):c.1782C>T (p.Ala594=) rs61737172 0.00003
NM_006420.3(ARFGEF2):c.907+9C>T rs538199862 0.00003
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly) rs549000007 0.00003
NM_007294.4(BRCA1):c.1881C>G (p.Val627=) rs80356838 0.00003
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile) rs80357127 0.00003
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413 0.00003
NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg) rs80357079 0.00003
NM_007294.4(BRCA1):c.5310G>A (p.Gly1770=) rs273901761 0.00003
NM_007294.4(BRCA1):c.671-8A>G rs80358144 0.00003
NM_007294.4(BRCA1):c.811G>A (p.Val271Met) rs80357244 0.00003
NM_012301.4(MAGI2):c.1713C>T (p.Ser571=) rs587780386 0.00003
NM_015214.3(DDHD2):c.1009A>C (p.Arg337=) rs778628163 0.00003
NM_015599.3(PGM3):c.-2-194C>T rs753019951 0.00003
NM_016180.5(SLC45A2):c.1325C>T (p.Pro442Leu) rs769448704 0.00003
NM_016180.5(SLC45A2):c.1532C>T (p.Ala511Val) rs748872789 0.00003
NM_016188.5(ACTL6B):c.652T>C (p.Tyr218His) rs747962927 0.00003
NM_017654.4(SAMD9):c.3381C>A (p.Tyr1127Ter) rs572380130 0.00003
NM_017721.5(CC2D1A):c.197-5G>A rs373157979 0.00003
NM_017755.6(NSUN2):c.2259C>T (p.Asp753=) rs372574598 0.00003
NM_017780.4(CHD7):c.7570C>T (p.Leu2524=) rs751931671 0.00003
NM_018026.4(PACS1):c.83C>G (p.Ser28Cys) rs763294619 0.00003
NM_018136.5(ASPM):c.8986C>T (p.Arg2996Trp) rs772813676 0.00003
NM_018941.4(CLN8):c.470A>G (p.His157Arg) rs149308952 0.00003
NM_020461.4(TUBGCP6):c.2066-6A>G rs368765755 0.00003
NM_020549.5(CHAT):c.620G>A (p.Arg207His) rs764497513 0.00003
NM_020975.6(RET):c.31C>A (p.Leu11Met) rs587780812 0.00003
NM_021956.5(GRIK2):c.2487C>T (p.Ala829=) rs370196358 0.00003
NM_022095.4(ZNF335):c.3670-8A>C rs772015167 0.00003
NM_022455.5(NSD1):c.4328A>G (p.Asn1443Ser) rs141911573 0.00003
NM_024596.5(MCPH1):c.1876G>A (p.Gly626Ser) rs189380942 0.00003
NM_024675.4(PALB2):c.94C>G (p.Leu32Val) rs151316635 0.00003
NM_025243.4(SLC19A3):c.854G>A (p.Trp285Ter) rs373198092 0.00003
NM_030665.4(RAI1):c.2544C>T (p.Ala848=) rs777023372 0.00003
NM_031407.7(HUWE1):c.957G>T (p.Gln319His) rs782234241 0.00003
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955 0.00003
NM_032043.3(BRIP1):c.2748C>T (p.Tyr916=) rs555200296 0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639 0.00003
NM_080680.3(COL11A2):c.3173C>T (p.Pro1058Leu) rs562253142 0.00003
NM_138711.6(PPARG):c.145G>A (p.Glu49Lys) rs777334819 0.00003
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=) rs775883776 0.00003
NM_152703.5(SAMD9L):c.1764A>G (p.Gln588=) rs776606453 0.00003
NM_173630.4(RTTN):c.1768C>T (p.Leu590=) rs752422245 0.00003
NM_181507.2(HPS5):c.3059-10G>A rs764418389 0.00003
NM_198253.3(TERT):c.2301A>G (p.Thr767=) rs374592280 0.00003
NM_198253.3(TERT):c.2971-10G>T rs878855303 0.00003
NM_198253.3(TERT):c.3267C>T (p.Tyr1089=) rs759883263 0.00003
NM_000038.6(APC):c.835-3T>C rs372090940 0.00002
NM_000051.4(ATM):c.3630G>A (p.Met1210Ile) rs587778073 0.00002
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile) rs35184530 0.00002
NM_000051.4(ATM):c.4437-9C>T rs766003804 0.00002
NM_000051.4(ATM):c.4626G>A (p.Leu1542=) rs786202784 0.00002
NM_000051.4(ATM):c.7808A>G (p.Asn2603Ser) rs150355232 0.00002
NM_000051.4(ATM):c.8151+11C>T rs555381912 0.00002
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val) rs749085322 0.00002
NM_000057.4(BLM):c.3028del (p.Asp1010fs) rs780379121 0.00002
NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met) rs80358390 0.00002
NM_000059.4(BRCA2):c.3916G>A (p.Val1306Ile) rs80358636 0.00002
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp) rs80358703 0.00002
NM_000059.4(BRCA2):c.5167A>G (p.Thr1723Ala) rs80358742 0.00002
NM_000059.4(BRCA2):c.5813G>C (p.Gly1938Ala) rs41293499 0.00002
NM_000059.4(BRCA2):c.708T>C (p.His236=) rs185506536 0.00002
NM_000059.4(BRCA2):c.7317A>G (p.Gly2439=) rs587780660 0.00002
NM_000059.4(BRCA2):c.8111C>T (p.Ser2704Phe) rs80359054 0.00002
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000096.4(CP):c.1948G>A (p.Gly650Arg) rs776936158 0.00002
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057 0.00002
NM_000143.4(FH):c.270C>T (p.Thr90=) rs748852152 0.00002
NM_000162.5(GCK):c.-452G>A rs187173652 0.00002
NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu) rs41295270 0.00002
NM_000195.5(HPS1):c.2052C>T (p.Ala684=) rs576260502 0.00002
NM_000249.4(MLH1):c.303T>G (p.Gly101=) rs4647220 0.00002
NM_000249.4(MLH1):c.974G>A (p.Arg325Gln) rs63750268 0.00002
NM_000322.5(PRPH2):c.625G>A (p.Val209Ile) rs753657349 0.00002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
NM_000352.6(ABCC8):c.291-3C>T rs764107333 0.00002
NM_000352.6(ABCC8):c.3960C>T (p.Thr1320=) rs137868047 0.00002
NM_000352.6(ABCC8):c.4297G>A (p.Gly1433Ser) rs781090024 0.00002
NM_000368.5(TSC1):c.1685C>G (p.Ala562Gly) rs377185303 0.00002
NM_000370.3(TTPA):c.552G>A (p.Thr184=) rs181109321 0.00002
NM_000381.4(MID1):c.1101C>T (p.Ser367=) rs372570608 0.00002
NM_000384.3(APOB):c.8469T>C (p.Ala2823=) rs531216195 0.00002
NM_000426.4(LAMA2):c.3279C>T (p.Cys1093=) rs371376404 0.00002
NM_000430.4(PAFAH1B1):c.794C>T (p.Thr265Ile) rs769280736 0.00002
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe) rs760040670 0.00002
NM_000455.5(STK11):c.1050C>T (p.Asp350=) rs779583262 0.00002
NM_000455.5(STK11):c.828C>T (p.Gly276=) rs200824447 0.00002
NM_000535.7(PMS2):c.1170G>A (p.Ala390=) rs755578413 0.00002
NM_000535.7(PMS2):c.2217G>A (p.Leu739=) rs752718686 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.6207A>G (p.Lys2069=) rs920135778 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met) rs774637975 0.00002
NM_000546.6(TP53):c.468C>T (p.Arg156=) rs761222871 0.00002
NM_001005361.3(DNM2):c.1731G>A (p.Lys577=) rs35365412 0.00002
NM_001008537.3(NEXMIF):c.3319G>A (p.Asp1107Asn) rs751468762 0.00002
NM_001012339.3(DNAJC21):c.279C>T (p.Thr93=) rs541503410 0.00002
NM_001012339.3(DNAJC21):c.50A>G (p.Glu17Gly) rs761693334 0.00002
NM_001012339.3(DNAJC21):c.983+1G>A rs368148362 0.00002
NM_001032382.2(PQBP1):c.288T>C (p.Asn96=) rs782360331 0.00002
NM_001035.3(RYR2):c.6800G>A (p.Arg2267His) rs759012078 0.00002
NM_001040142.2(SCN2A):c.1889G>A (p.Arg630His) rs150040573 0.00002
NM_001040142.2(SCN2A):c.2083T>C (p.Leu695=) rs368043574 0.00002
NM_001040142.2(SCN2A):c.3598A>G (p.Thr1200Ala) rs765909421 0.00002
NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val) rs902739109 0.00002
NM_001080449.3(DNA2):c.1485A>G (p.Gln495=) rs368855073 0.00002
NM_001110556.2(FLNA):c.1000G>A (p.Ala334Thr) rs886044859 0.00002
NM_001110556.2(FLNA):c.1580G>A (p.Arg527His) rs782450368 0.00002
NM_001110556.2(FLNA):c.4899C>T (p.Arg1633=) rs781846478 0.00002
NM_001110556.2(FLNA):c.7389G>A (p.Ser2463=) rs373103712 0.00002
NM_001110792.2(MECP2):c.1487G>C (p.Arg496Thr) rs267608370 0.00002
NM_001111125.3(IQSEC2):c.618C>T (p.Ser206=) rs370573314 0.00002
NM_001128126.3(AP4S1):c.295-3C>A rs185246578 0.00002
NM_001160372.4(TRAPPC9):c.1693G>A (p.Val565Met) rs551407866 0.00002
NM_001194998.2(CEP152):c.60C>T (p.Asp20=) rs759826252 0.00002
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224 0.00002
NM_001267550.2(TTN):c.29397C>T (p.Gly9799=) rs770084292 0.00002
NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu) rs140025425 0.00002
NM_001271.4(CHD2):c.225C>G (p.Ser75=) rs144667627 0.00002
NM_001278116.2(L1CAM):c.3015C>T (p.Ile1005=) rs202082978 0.00002
NM_001282531.3(ADNP):c.2600A>G (p.Asn867Ser) rs750479975 0.00002
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206 0.00002
NM_001353108.3(CEP63):c.1068-1G>A rs752207334 0.00002
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686 0.00002
NM_001374828.1(ARID1B):c.4314C>T (p.Ser1438=) rs371872657 0.00002
NM_001378120.1(MBD5):c.2789A>C (p.Gln930Pro) rs564759063 0.00002
NM_001378454.1(ALMS1):c.10020G>A (p.Arg3340=) rs746166271 0.00002
NM_001807.6(CEL):c.400G>A (p.Gly134Ser) rs377284693 0.00002
NM_002470.4(MYH3):c.5198C>A (p.Thr1733Lys) rs539740208 0.00002
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) rs587782545 0.00002
NM_002547.3(OPHN1):c.333G>A (p.Leu111=) rs765654561 0.00002
NM_003073.5(SMARCB1):c.1098C>T (p.Arg366=) rs562018506 0.00002
NM_003482.4(KMT2D):c.11641A>G (p.Met3881Val) rs797045657 0.00002
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His) rs587784349 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004360.5(CDH1):c.188G>A (p.Arg63Gln) rs587780117 0.00002
NM_004380.3(CREBBP):c.2679G>A (p.Ser893=) rs587783474 0.00002
NM_004380.3(CREBBP):c.3021G>C (p.Glu1007Asp) rs774653315 0.00002
NM_004525.3(LRP2):c.39C>T (p.Leu13=) rs529649802 0.00002
NM_004655.4(AXIN2):c.1976G>A (p.Arg659Gln) rs730881400 0.00002
NM_004826.4(ECEL1):c.1507-9G>A rs797045548 0.00002
NM_004991.4(MECOM):c.3446A>G (p.His1149Arg) rs779967808 0.00002
NM_005120.3(MED12):c.3785G>A (p.Arg1262Lys) rs202120461 0.00002
NM_005431.2(XRCC2):c.596T>C (p.Met199Thr) rs149099078 0.00002
NM_005559.4(LAMA1):c.8315G>A (p.Arg2772His) rs548903685 0.00002
NM_005629.4(SLC6A8):c.76G>A (p.Gly26Arg) rs1233444890 0.00002
NM_006005.3(WFS1):c.2254G>T (p.Glu752Ter) rs201239579 0.00002
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) rs372855769 0.00002
NM_006015.6(ARID1A):c.6785C>T (p.Ser2262Leu) rs375849292 0.00002
NM_006031.6(PCNT):c.2865C>T (p.Ala955=) rs540548340 0.00002
NM_006031.6(PCNT):c.4929G>C (p.Val1643=) rs569351854 0.00002
NM_006031.6(PCNT):c.7632G>A (p.Thr2544=) rs541260181 0.00002
NM_006031.6(PCNT):c.9174G>A (p.Ala3058=) rs554275370 0.00002
NM_006279.5(ST3GAL3):c.990C>T (p.Asn330=) rs773763812 0.00002
NM_006420.3(ARFGEF2):c.3843C>T (p.Ala1281=) rs748858379 0.00002
NM_006734.4(HIVEP2):c.5853C>T (p.Gly1951=) rs150164040 0.00002
NM_007294.4(BRCA1):c.3835G>A (p.Ala1279Thr) rs80357036 0.00002
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr) rs80356968 0.00002
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=) rs191373374 0.00002
NM_012301.4(MAGI2):c.878C>T (p.Thr293Ile) rs587780389 0.00002
NM_012414.4(RAB3GAP2):c.2008C>G (p.Leu670Val) rs201613456 0.00002
NM_014043.4(CHMP2B):c.376C>T (p.Gln126Ter) rs1203007423 0.00002
NM_014141.6(CNTNAP2):c.2340A>G (p.Ser780=) rs778124698 0.00002
NM_014795.4(ZEB2):c.2352T>C (p.Ser784=) rs201990887 0.00002
NM_014795.4(ZEB2):c.309A>G (p.Leu103=) rs187331667 0.00002
NM_015450.3(POT1):c.1164-1G>A rs866612394 0.00002
NM_015713.5(RRM2B):c.686G>T (p.Gly229Val) rs121918311 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_016219.5(MAN1B1):c.1764+9G>C rs377406887 0.00002
NM_016222.4(DDX41):c.653G>A (p.Gly218Asp) rs371460149 0.00002
NM_017654.4(SAMD9):c.1191A>G (p.Leu397=) rs1791604504 0.00002
NM_017755.6(NSUN2):c.174G>A (p.Val58=) rs745966593 0.00002
NM_017757.3(ZNF407):c.3675G>A (p.Glu1225=) rs200667048 0.00002
NM_017777.4(MKS1):c.644+9C>T rs754404940 0.00002
NM_017780.4(CHD7):c.5859G>A (p.Ala1953=) rs587783449 0.00002
NM_017780.4(CHD7):c.7009C>T (p.Arg2337Cys) rs765610436 0.00002
NM_018136.5(ASPM):c.2419+2T>C rs587783225 0.00002
NM_018136.5(ASPM):c.8203T>G (p.Phe2735Val) rs372416792 0.00002
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) rs119468004 0.00002
NM_020944.3(GBA2):c.515G>A (p.Arg172His) rs200268523 0.00002
NM_022081.6(HPS4):c.2079C>T (p.Ser693=) rs138189133 0.00002
NM_022455.5(NSD1):c.7923T>C (p.Ala2641=) rs147033795 0.00002
NM_024301.5(FKRP):c.483C>T (p.Ala161=) rs797045576 0.00002
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg) rs749494645 0.00002
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr) rs763598472 0.00002
NM_024675.4(PALB2):c.1599T>C (p.Thr533=) rs786201088 0.00002
NM_024675.4(PALB2):c.2319T>C (p.Thr773=) rs562168734 0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132 0.00002
NM_024757.5(EHMT1):c.1107G>A (p.Ala369=) rs540617218 0.00002
NM_024757.5(EHMT1):c.183C>T (p.Ser61=) rs774448433 0.00002
NM_024884.3(L2HGDH):c.627A>G (p.Ala209=) rs564306903 0.00002
NM_025074.7(FRAS1):c.11695C>T (p.Leu3899=) rs367723684 0.00002
NM_030665.4(RAI1):c.2700C>T (p.Thr900=) rs370400740 0.00002
NM_030928.4(CDT1):c.738C>T (p.Ser246=) rs200892812 0.00002
NM_031407.7(HUWE1):c.1000A>G (p.Ile334Val) rs781928056 0.00002
NM_031407.7(HUWE1):c.1188C>T (p.Tyr396=) rs782115290 0.00002
NM_031407.7(HUWE1):c.1243-8C>T rs781931508 0.00002
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly) rs4988356 0.00002
NM_032119.4(ADGRV1):c.1505C>T (p.Ala502Val) rs367826825 0.00002
NM_032237.5(POMK):c.905T>A (p.Val302Asp) rs199756983 0.00002
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys) rs1247205097 0.00002
NM_133433.4(NIPBL):c.126T>C (p.Phe42=) rs727504046 0.00002
NM_133642.5(LARGE1):c.1792G>A (p.Glu598Lys) rs144045461 0.00002
NM_138927.4(SON):c.1526C>T (p.Thr509Met) rs749384711 0.00002
NM_139058.3(ARX):c.1272G>A (p.Pro424=) rs398124507 0.00002
NM_139058.3(ARX):c.300G>A (p.Ala100=) rs797045294 0.00002
NM_139058.3(ARX):c.306G>T (p.Ala102=) rs587783196 0.00002
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His) rs771667880 0.00002
NM_152703.5(SAMD9L):c.2387T>G (p.Ile796Ser) rs774643105 0.00002
NM_170707.4(LMNA):c.1098G>A (p.Lys366=) rs57901307 0.00002
NM_172107.4(KCNQ2):c.2316G>A (p.Pro772=) rs587780367 0.00002
NM_198253.3(TERT):c.2187C>T (p.Ile729=) rs200819224 0.00002
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu) rs202064195 0.00001
NM_000038.6(APC):c.1746A>G (p.Glu582=) rs876658969 0.00001
NM_000038.6(APC):c.3323A>G (p.Asn1108Ser) rs151286353 0.00001
NM_000038.6(APC):c.3653C>T (p.Thr1218Met) rs377640390 0.00001
NM_000051.4(ATM):c.1838T>G (p.Val613Gly) rs762018538 0.00001
NM_000051.4(ATM):c.2922-8T>A rs545892367 0.00001
NM_000051.4(ATM):c.507T>C (p.Ser169=) rs758619186 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000051.4(ATM):c.6536T>C (p.Ile2179Thr) rs878853532 0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser) rs531617441 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp) rs797045402 0.00001
NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg) rs372436901 0.00001
NM_000053.4(ATP7B):c.2122-8T>G rs193922102 0.00001
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339 0.00001
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn) rs28942075 0.00001
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val) rs587783309 0.00001
NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=) rs587783314 0.00001
NM_000057.4(BLM):c.2661A>G (p.Pro887=) rs753160480 0.00001
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393 0.00001
NM_000059.4(BRCA2):c.5529A>C (p.Ala1843=) rs372951842 0.00001
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val) rs56191579 0.00001
NM_000059.4(BRCA2):c.6443C>A (p.Ser2148Tyr) rs80358880 0.00001
NM_000059.4(BRCA2):c.6531T>A (p.Ile2177=) rs587780658 0.00001
NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe) rs398122560 0.00001
NM_000059.4(BRCA2):c.6785T>G (p.Met2262Arg) rs80358904 0.00001
NM_000059.4(BRCA2):c.7521A>G (p.Pro2507=) rs759383358 0.00001
NM_000059.4(BRCA2):c.893C>T (p.Thr298Ile) rs753067824 0.00001
NM_000059.4(BRCA2):c.9205T>C (p.Cys3069Arg) rs398122611 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala) rs587780291 0.00001
NM_000135.4(FANCA):c.2601+1G>T rs1188581065 0.00001
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) rs372706571 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000142.5(FGFR3):c.1645+4G>C rs1367336734 0.00001
NM_000143.4(FH):c.648T>A (p.Asp216Glu) rs199536615 0.00001
NM_000152.5(GAA):c.2647-7G>A rs192679574 0.00001
NM_000153.4(GALC):c.331G>A (p.Gly111Ser) rs756690487 0.00001
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800 0.00001
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) rs1085307455 0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000179.3(MSH6):c.3980A>G (p.Asn1327Ser) rs780187989 0.00001
NM_000207.3(INS):c.-18+22G>A rs1051986248 0.00001
NM_000212.3(ITGB3):c.201G>A (p.Lys67=) rs780479441 0.00001
NM_000249.4(MLH1):c.116+8G>A rs904872305 0.00001
NM_000249.4(MLH1):c.1990-6G>A rs117221851 0.00001
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg) rs776174711 0.00001
NM_000251.3(MSH2):c.2006-4G>A rs369853630 0.00001
NM_000251.3(MSH2):c.2164G>A (p.Val722Ile) rs587781996 0.00001
NM_000257.4(MYH7):c.3474C>T (p.Ser1158=) rs587780395 0.00001
NM_000271.5(NPC1):c.2956G>A (p.Gly986Ser) rs1364834942 0.00001
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs) rs750323164 0.00001
NM_000273.3(GPR143):c.251-9C>A rs374596288 0.00001
NM_000275.3(OCA2):c.1045-9T>G rs755604671 0.00001
NM_000275.3(OCA2):c.573+5G>A rs1432628513 0.00001
NM_000275.3(OCA2):c.807+1G>T rs763219039 0.00001
NM_000297.4(PKD2):c.2460C>T (p.Ser820=) rs572822238 0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 0.00001
NM_000314.8(PTEN):c.1062G>A (p.Pro354=) rs786202751 0.00001
NM_000314.8(PTEN):c.210-9T>C rs751744545 0.00001
NM_000317.3(PTS):c.347A>G (p.Asp116Gly) rs104894279 0.00001
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys) rs201916531 0.00001
NM_000352.6(ABCC8):c.1183A>T (p.Ile395Phe) rs542947894 0.00001
NM_000352.6(ABCC8):c.1512C>T (p.Arg504=) rs148811815 0.00001
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro) rs797045206 0.00001
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup) rs757650373 0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678 0.00001
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg) rs761749884 0.00001
NM_000352.6(ABCC8):c.4225A>G (p.Ile1409Val) rs776100468 0.00001
NM_000352.6(ABCC8):c.4252C>T (p.Arg1418Cys) rs1468762603 0.00001
NM_000352.6(ABCC8):c.4314C>T (p.Asn1438=) rs752809991 0.00001
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg) rs971604271 0.00001
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715 0.00001
NM_000368.5(TSC1):c.1219G>A (p.Val407Met) rs769331772 0.00001
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter) rs1013801316 0.00001
NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly) rs61753187 0.00001
NM_000381.4(MID1):c.567C>T (p.Thr189=) rs1555905154 0.00001
NM_000455.5(STK11):c.559G>A (p.Gly187Ser) rs587782032 0.00001
NM_000455.5(STK11):c.632G>A (p.Arg211Gln) rs730881982 0.00001
NM_000463.3(UGT1A1):c.1130G>T (p.Gly377Val) rs1283652721 0.00001
NM_000463.3(UGT1A1):c.1381T>C (p.Trp461Arg) rs1476500325 0.00001
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter) rs587781707 0.00001
NM_000475.5(NR0B1):c.1365A>G (p.Thr455=) rs572970359 0.00001
NM_000489.6(ATRX):c.3395T>C (p.Ile1132Thr) rs587780285 0.00001
NM_000489.6(ATRX):c.4031A>G (p.Lys1344Arg) rs782556767 0.00001
NM_000525.4(KCNJ11):c.130G>A (p.Val44Met) rs1282255458 0.00001
NM_000525.4(KCNJ11):c.185C>T (p.Thr62Met) rs1057518775 0.00001
NM_000525.4(KCNJ11):c.616C>T (p.Arg206Cys) rs775204908 0.00001
NM_000525.4(KCNJ11):c.969C>T (p.Asp323=) rs1272384074 0.00001
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00001
NM_000533.5(PLP1):c.696+8G>T rs902326390 0.00001
NM_000535.7(PMS2):c.711A>G (p.Gln237=) rs368608818 0.00001
NM_000540.3(RYR1):c.10018+7C>T rs797045928 0.00001
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839 0.00001
NM_000540.3(RYR1):c.13122G>A (p.Val4374=) rs797045930 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.1792-8A>T rs746765869 0.00001
NM_000540.3(RYR1):c.4225C>T (p.Arg1409Ter) rs587784376 0.00001
NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp) rs193922826 0.00001
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg) rs756331568 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.760A>G (p.Ile254Val) rs746601313 0.00001
NM_000548.5(TSC2):c.213G>T (p.Lys71Asn) rs766200310 0.00001
NM_000548.5(TSC2):c.2331T>C (p.His777=) rs139963953 0.00001
NM_000551.4(VHL):c.-12_2dup (p.Met1fs) rs886041253 0.00001
NM_000834.5(GRIN2B):c.381C>T (p.His127=) rs200608452 0.00001
NM_001005361.3(DNM2):c.1973A>G (p.Asn658Ser) rs753175954 0.00001
NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter) rs369022159 0.00001
NM_001018115.3(FANCD2):c.3558C>G (p.Leu1186=) rs745765337 0.00001
NM_001032221.6(STXBP1):c.1548-7T>C rs534556046 0.00001
NM_001032382.2(PQBP1):c.510G>A (p.Arg170=) rs782103312 0.00001
NM_001040142.2(SCN2A):c.1971C>T (p.Val657=) rs149230197 0.00001
NM_001040142.2(SCN2A):c.5319G>A (p.Ala1773=) rs373913233 0.00001
NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter) rs149644940 0.00001
NM_001042492.3(NF1):c.2622G>A (p.Lys874=) rs77917884 0.00001
NM_001042492.3(NF1):c.3871-4G>C rs558421445 0.00001
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val) rs565708398 0.00001
NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu) rs906284769 0.00001
NM_001080517.3(SETD5):c.2922C>T (p.Asp974=) rs1049067352 0.00001
NM_001083961.2(WDR62):c.1434C>G (p.Phe478Leu) rs542178534 0.00001
NM_001083961.2(WDR62):c.1642+9G>A rs112789274 0.00001
NM_001100.4(ACTA1):c.246T>C (p.Asp82=) rs373785144 0.00001
NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser) rs781993685 0.00001
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) rs797045581 0.00001
NM_001113378.2(FANCI):c.3721-7C>T rs1434575390 0.00001
NM_001114753.3(ENG):c.1273-5C>T rs779103881 0.00001
NM_001126121.2(SLC25A19):c.414C>T (p.Pro138=) rs532597121 0.00001
NM_001128840.3(CACNA1D):c.5813C>T (p.Pro1938Leu) rs770886605 0.00001
NM_001130009.3(GEN1):c.364G>A (p.Glu122Lys) rs201084834 0.00001
NM_001130438.3(SPTAN1):c.1389C>T (p.Tyr463=) rs587784431 0.00001
NM_001130438.3(SPTAN1):c.3579+3_3579+4dup rs797046004 0.00001
NM_001130438.3(SPTAN1):c.979C>T (p.Leu327=) rs587784442 0.00001
NM_001130987.2(DYSF):c.3477G>A (p.Thr1159=) rs576460368 0.00001
NM_001143992.2(WRAP53):c.621G>A (p.Glu207=) rs200805760 0.00001
NM_001160372.4(TRAPPC9):c.3148C>T (p.Arg1050Trp) rs563050274 0.00001
NM_001164508.2(NEB):c.2211+5G>T rs797045736 0.00001
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter) rs760935667 0.00001
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser) rs398123591 0.00001
NM_001165963.4(SCN1A):c.5346C>T (p.Ile1782=) rs121918763 0.00001
NM_001184880.2(PCDH19):c.2742A>G (p.Gln914=) rs61742914 0.00001
NM_001194998.2(CEP152):c.1008G>A (p.Leu336=) rs1896842918 0.00001
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro) rs267606717 0.00001
NM_001195553.2(DCX):c.339C>A (p.Ile113=) rs587783543 0.00001
NM_001195553.2(DCX):c.587G>A (p.Arg196His) rs56030372 0.00001
NM_001244008.2(KIF1A):c.3288C>T (p.Arg1096=) rs542427011 0.00001
NM_001244008.2(KIF1A):c.4971C>A (p.Asp1657Glu) rs184939069 0.00001
NM_001267550.2(TTN):c.102963C>T (p.Asn34321=) rs528502993 0.00001
NM_001267550.2(TTN):c.17227C>T (p.Arg5743Trp) rs377193479 0.00001
NM_001267550.2(TTN):c.27914G>A (p.Arg9305Gln) rs397517527 0.00001
NM_001267550.2(TTN):c.34612+1G>A rs577363824 0.00001
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00001
NM_001267550.2(TTN):c.56963-3C>T rs375979145 0.00001
NM_001267550.2(TTN):c.57273C>T (p.Asp19091=) rs587780489 0.00001
NM_001267550.2(TTN):c.76124A>T (p.Tyr25375Phe) rs374494927 0.00001
NM_001267550.2(TTN):c.7783A>G (p.Met2595Val) rs760786665 0.00001
NM_001267550.2(TTN):c.86140G>A (p.Gly28714Arg) rs532818379 0.00001
NM_001267550.2(TTN):c.97673G>A (p.Arg32558Gln) rs369237346 0.00001
NM_001278116.2(L1CAM):c.255C>T (p.Thr85=) rs201886318 0.00001
NM_001278116.2(L1CAM):c.3412C>G (p.Leu1138Val) rs781860875 0.00001
NM_001323289.2(CDKL5):c.1400A>G (p.His467Arg) rs267608631 0.00001
NM_001330078.2(NRXN1):c.1326A>C (p.Val442=) rs201485014 0.00001
NM_001330078.2(NRXN1):c.772+1024C>G rs199645252 0.00001
NM_001330260.2(SCN8A):c.1880C>T (p.Ser627Leu) rs1198276041 0.00001
NM_001330260.2(SCN8A):c.3164G>A (p.Arg1055Gln) rs756127631 0.00001
NM_001347721.2(DYRK1A):c.2085C>G (p.Val695=) rs372748919 0.00001
NM_001360.3(DHCR7):c.841G>A (p.Val281Met) rs398123607 0.00001
NM_001363118.2(SLC52A2):c.505C>T (p.Arg169Cys) rs782345472 0.00001
NM_001365999.1(SZT2):c.5316A>G (p.Glu1772=) rs797046032 0.00001
NM_001365999.1(SZT2):c.9269G>A (p.Arg3090His) rs374490896 0.00001
NM_001366722.1(GRIP1):c.2882G>A (p.Arg961Gln) rs570235851 0.00001
NM_001367721.1(CASK):c.2325C>T (p.Thr775=) rs760957859 0.00001
NM_001370100.5(ZMYND11):c.1470A>G (p.Thr490=) rs1437939162 0.00001
NM_001372044.2(SHANK3):c.4211C>T (p.Ser1404Leu) rs1464985103 0.00001
NM_001374828.1(ARID1B):c.1410C>T (p.Ala470=) rs1401866270 0.00001
NM_001374828.1(ARID1B):c.247A>G (p.Asn83Asp) rs797045266 0.00001
NM_001374828.1(ARID1B):c.283G>A (p.Gly95Ser) rs797045273 0.00001
NM_001374828.1(ARID1B):c.347C>T (p.Ala116Val) rs1325414473 0.00001
NM_001374828.1(ARID1B):c.3588C>T (p.Val1196=) rs371828409 0.00001
NM_001374828.1(ARID1B):c.4611G>A (p.Pro1537=) rs749608995 0.00001
NM_001374828.1(ARID1B):c.5027C>T (p.Ala1676Val) rs762698567 0.00001
NM_001374828.1(ARID1B):c.5031C>T (p.Pro1677=) rs770164775 0.00001
NM_001374828.1(ARID1B):c.6258C>G (p.Ala2086=) rs781082506 0.00001
NM_001376.5(DYNC1H1):c.11721C>A (p.His3907Gln) rs774840535 0.00001
NM_001376.5(DYNC1H1):c.12589G>A (p.Ala4197Thr) rs879254018 0.00001
NM_001376.5(DYNC1H1):c.4542+6G>A rs375822798 0.00001
NM_001376.5(DYNC1H1):c.7403A>T (p.Asn2468Ile) rs797045532 0.00001
NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu) rs536900412 0.00001
NM_001378120.1(MBD5):c.205A>G (p.Ile69Val) rs749163361 0.00001
NM_001378454.1(ALMS1):c.5245A>G (p.Thr1749Ala) rs546111188 0.00001
NM_001378454.1(ALMS1):c.8904A>G (p.Gln2968=) rs777796888 0.00001
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter) rs386833763 0.00001
NM_001378778.1(MPDZ):c.663C>T (p.Ala221=) rs35476999 0.00001
NM_001429.4(EP300):c.2609C>T (p.Pro870Leu) rs540935486 0.00001
NM_001429.4(EP300):c.6526C>T (p.Pro2176Ser) rs779543207 0.00001
NM_001551.3(IGBP1):c.27G>T (p.Leu9=) rs2085078922 0.00001
NM_001715.3(BLK):c.369-10C>T rs750408108 0.00001
NM_001987.5(ETV6):c.51T>C (p.Tyr17=) rs144055004 0.00001
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter) rs138943405 0.00001
NM_002397.5(MEF2C):c.1021G>A (p.Ala341Thr) rs797045703 0.00001
NM_002397.5(MEF2C):c.585C>T (p.Asn195=) rs398123686 0.00001
NM_002485.5(NBN):c.584+9T>C rs746913991 0.00001
NM_002547.3(OPHN1):c.2307G>A (p.Gly769=) rs748176965 0.00001
NM_002693.3(POLG):c.2869G>C (p.Ala957Pro) rs121918051 0.00001
NM_002834.5(PTPN11):c.951G>A (p.Lys317=) rs576405446 0.00001
NM_003001.5(SDHC):c.214C>T (p.Arg72Cys) rs756676111 0.00001
NM_003070.5(SMARCA2):c.3229T>A (p.Ser1077Thr) rs1388950613 0.00001
NM_003070.5(SMARCA2):c.4164C>T (p.Asn1388=) rs759832527 0.00001
NM_003072.5(SMARCA4):c.3546+9G>A rs544551192 0.00001
NM_003072.5(SMARCA4):c.4152G>A (p.Thr1384=) rs372620534 0.00001
NM_003108.4(SOX11):c.951C>T (p.Asn317=) rs750390370 0.00001
NM_003119.4(SPG7):c.1552+2dup rs1567928509 0.00001
NM_003383.5(VLDLR):c.1343G>A (p.Arg448Gln) rs137946976 0.00001
NM_003383.5(VLDLR):c.1782G>A (p.Leu594=) rs376819187 0.00001
NM_003482.4(KMT2D):c.14840C>A (p.Pro4947His) rs587783694 0.00001
NM_003482.4(KMT2D):c.14972G>A (p.Arg4991Gln) rs761108868 0.00001
NM_003482.4(KMT2D):c.4123C>T (p.Leu1375=) rs1368572 0.00001
NM_003482.4(KMT2D):c.6640G>A (p.Ala2214Thr) rs587783724 0.00001
NM_003482.4(KMT2D):c.6844C>T (p.Arg2282Trp) rs587783726 0.00001
NM_003482.4(KMT2D):c.7170G>A (p.Pro2390=) rs3741625 0.00001
NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln) rs587784332 0.00001
NM_003560.4(PLA2G6):c.1699G>A (p.Glu567Lys) rs587784337 0.00001
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) rs9809219 0.00001
NM_004268.5(MED17):c.390C>G (p.Val130=) rs769907044 0.00001
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) rs557241012 0.00001
NM_004360.5(CDH1):c.1162G>A (p.Glu388Lys) rs372838203 0.00001
NM_004360.5(CDH1):c.2322G>A (p.Arg774=) rs150734856 0.00001
NM_004380.3(CREBBP):c.6449C>T (p.Pro2150Leu) rs587783512 0.00001
NM_004560.4(ROR2):c.1970G>A (p.Arg657His) rs529829552 0.00001
NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg) rs754498075 0.00001
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) rs532757890 0.00001
NM_005097.4(LGI1):c.519T>C (p.Asn173=) rs587780379 0.00001
NM_005120.3(MED12):c.2128G>A (p.Val710Met) rs797045697 0.00001
NM_005120.3(MED12):c.3797G>A (p.Arg1266His) rs587780391 0.00001
NM_005120.3(MED12):c.5418G>A (p.Pro1806=) rs770957462 0.00001
NM_005188.4(CBL):c.2451C>T (p.Ser817=) rs1214485253 0.00001
NM_005188.4(CBL):c.660G>A (p.Glu220=) rs949933368 0.00001
NM_005249.5(FOXG1):c.1384A>G (p.Ser462Gly) rs752379833 0.00001
NM_005431.2(XRCC2):c.828G>A (p.Gly276=) rs1590129146 0.00001
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) rs370479598 0.00001
NM_006005.3(WFS1):c.376G>A (p.Ala126Thr) rs145639028 0.00001
NM_006015.6(ARID1A):c.2512G>A (p.Gly838Arg) rs753334968 0.00001
NM_006031.6(PCNT):c.1457-9dup rs1486232846 0.00001
NM_006031.6(PCNT):c.4585-3T>C rs777059690 0.00001
NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter) rs119479062 0.00001
NM_006031.6(PCNT):c.7104T>C (p.Pro2368=) rs576187743 0.00001
NM_006031.6(PCNT):c.7950C>T (p.Ala2650=) rs777255057 0.00001
NM_006031.6(PCNT):c.9090C>T (p.Thr3030=) rs942925965 0.00001
NM_006070.6(TFG):c.317G>A (p.Arg106His) rs376971794 0.00001
NM_006086.4(TUBB3):c.1206C>T (p.Gly402=) rs757192357 0.00001
NM_006086.4(TUBB3):c.1331C>T (p.Ser444Leu) rs587784504 0.00001
NM_006231.4(POLE):c.2982C>T (p.Leu994=) rs771463033 0.00001
NM_006231.4(POLE):c.4445-7T>C rs754001064 0.00001
NM_006306.4(SMC1A):c.285C>G (p.Ala95=) rs587784414 0.00001
NM_006306.4(SMC1A):c.3252C>T (p.Ile1084=) rs587784417 0.00001
NM_006420.3(ARFGEF2):c.2406G>A (p.Arg802=) rs756651881 0.00001
NM_006420.3(ARFGEF2):c.4557C>T (p.Pro1519=) rs797045258 0.00001
NM_006494.4(ERF):c.247C>T (p.Arg83Trp) rs766762597 0.00001
NM_006516.4(SLC2A1):c.-2C>T rs587784388 0.00001
NM_006516.4(SLC2A1):c.680-10G>T rs587784394 0.00001
NM_006516.4(SLC2A1):c.746G>A (p.Arg249Gln) rs587784395 0.00001
NM_006517.5(SLC16A2):c.890G>A (p.Arg297His) rs780086745 0.00001
NM_006565.4(CTCF):c.1878G>A (p.Glu626=) rs377527007 0.00001
NM_006772.3(SYNGAP1):c.2324G>A (p.Arg775Gln) rs761691865 0.00001
NM_007175.8(ERLIN2):c.589G>A (p.Ala197Thr) rs149254654 0.00001
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro) rs763395924 0.00001
NM_007194.4(CHEK2):c.74T>C (p.Val25Ala) rs587780188 0.00001
NM_007254.4(PNKP):c.624C>T (p.Ala208=) rs571119317 0.00001
NM_007294.4(BRCA1):c.1396C>T (p.Arg466Trp) rs80356964 0.00001
NM_007294.4(BRCA1):c.1924G>C (p.Asp642His) rs80357344 0.00001
NM_007294.4(BRCA1):c.2329T>G (p.Tyr777Asp) rs397507199 0.00001
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu) rs80356927 0.00001
NM_007294.4(BRCA1):c.2758G>A (p.Val920Ile) rs80357361 0.00001
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys) rs80357049 0.00001
NM_007294.4(BRCA1):c.3416G>T (p.Ser1139Ile) rs80357228 0.00001
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile) rs56336919 0.00001
NM_007294.4(BRCA1):c.3711A>G (p.Ile1237Met) rs80357388 0.00001
NM_007294.4(BRCA1):c.420T>C (p.Ser140=) rs730881448 0.00001
NM_007294.4(BRCA1):c.4342A>G (p.Ser1448Gly) rs80357486 0.00001
NM_007294.4(BRCA1):c.4765C>T (p.Arg1589Cys) rs80357002 0.00001
NM_007294.4(BRCA1):c.5412C>T (p.Val1804=) rs730881456 0.00001
NM_007347.5(AP4E1):c.1458A>G (p.Gln486=) rs557252541 0.00001
NM_007347.5(AP4E1):c.3117C>T (p.Asp1039=) rs752693324 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_012156.2(EPB41L1):c.1286G>A (p.Arg429His) rs761212463 0.00001
NM_012156.2(EPB41L1):c.1606C>T (p.Arg536Cys) rs757708154 0.00001
NM_013275.6(ANKRD11):c.3418G>A (p.Ala1140Thr) rs369869329 0.00001
NM_013382.7(POMT2):c.629T>C (p.Met210Thr) rs369654108 0.00001
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) rs780247476 0.00001
NM_014363.6(SACS):c.3868G>T (p.Ala1290Ser) rs757939935 0.00001
NM_014762.4(DHCR24):c.571G>A (p.Glu191Lys) rs119475041 0.00001
NM_014795.4(ZEB2):c.2365T>C (p.Ser789Pro) rs730881197 0.00001
NM_014915.3(ANKRD26):c.-126T>C rs1589393792 0.00001
NM_014915.3(ANKRD26):c.2151G>A (p.Met717Ile) rs188446159 0.00001
NM_014915.3(ANKRD26):c.513T>C (p.Asn171=) rs745670666 0.00001
NM_015080.4(NRXN2):c.2124C>T (p.Gly708=) rs146517173 0.00001
NM_015450.3(POT1):c.1369+10T>A rs773549874 0.00001
NM_015450.3(POT1):c.233T>C (p.Ile78Thr) rs947005337 0.00001
NM_015450.3(POT1):c.916A>G (p.Ile306Val) rs1415345156 0.00001
NM_015559.3(SETBP1):c.1963C>T (p.Leu655Phe) rs764969329 0.00001
NM_015665.6(AAAS):c.464G>A (p.Arg155His) rs758440592 0.00001
NM_015922.3(NSDHL):c.265C>G (p.Gln89Glu) rs145580873 0.00001
NM_015922.3(NSDHL):c.790-5G>A rs377291339 0.00001
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp) rs797045567 0.00001
NM_016219.5(MAN1B1):c.639C>T (p.Ile213=) rs368545529 0.00001
NM_016222.4(DDX41):c.1650G>A (p.Ala550=) rs747056004 0.00001
NM_016222.4(DDX41):c.1665C>T (p.Ala555=) rs1356103698 0.00001
NM_016222.4(DDX41):c.645-10C>T rs780120166 0.00001
NM_016955.4(SEPSECS):c.489G>A (p.Lys163=) rs587780457 0.00001
NM_017654.4(SAMD9):c.3176A>G (p.His1059Arg) rs377438913 0.00001
NM_017654.4(SAMD9):c.4597C>A (p.Arg1533=) rs375396225 0.00001
NM_017668.3(NDE1):c.909A>T (p.Arg303Ser) rs538373943 0.00001
NM_017721.5(CC2D1A):c.1597A>G (p.Met533Val) rs529368098 0.00001
NM_017739.4(POMGNT1):c.652+1G>T rs386834035 0.00001
NM_017755.6(NSUN2):c.822C>T (p.Asp274=) rs141802308 0.00001
NM_017780.4(CHD7):c.1512A>G (p.Gln504=) rs587783430 0.00001
NM_017780.4(CHD7):c.2613+4C>T rs779615403 0.00001
NM_017780.4(CHD7):c.5514G>A (p.Met1838Ile) rs374602567 0.00001
NM_017831.4(RNF125):c.122T>C (p.Leu41Pro) rs979916916 0.00001
NM_017882.3(CLN6):c.407G>A (p.Arg136His) rs769701646 0.00001
NM_018013.4(SOBP):c.219C>T (p.His73=) rs759344534 0.00001
NM_018026.4(PACS1):c.650A>G (p.Asn217Ser) rs767885129 0.00001
NM_018062.4(FANCL):c.2T>C (p.Met1Thr) rs761291501 0.00001
NM_018082.6(POLR3B):c.3173A>G (p.Tyr1058Cys) rs751459271 0.00001
NM_018136.5(ASPM):c.10060C>T (p.Arg3354Ter) rs748529285 0.00001
NM_018136.5(ASPM):c.1840G>C (p.Val614Leu) rs199813531 0.00001
NM_018136.5(ASPM):c.2195T>C (p.Leu732Ser) rs587783224 0.00001
NM_018136.5(ASPM):c.2488-1G>C rs1321892596 0.00001
NM_018136.5(ASPM):c.2977A>G (p.Lys993Glu) rs576139929 0.00001
NM_018136.5(ASPM):c.4951A>G (p.Met1651Val) rs772751994 0.00001
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter) rs587783275 0.00001
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter) rs199422194 0.00001
NM_018249.6(CDK5RAP2):c.4441C>T (p.Arg1481Ter) rs587783390 0.00001
NM_018451.5(CENPJ):c.1371G>A (p.Pro457=) rs770254231 0.00001
NM_018451.5(CENPJ):c.810A>G (p.Gln270=) rs572213217 0.00001
NM_019066.5(MAGEL2):c.789T>C (p.Pro263=) rs993057859 0.00001
NM_020699.4(GATAD2B):c.1753A>G (p.Ile585Val) rs372276373 0.00001
NM_020699.4(GATAD2B):c.900G>A (p.Pro300=) rs376882053 0.00001
NM_020717.5(SHROOM4):c.30C>G (p.Tyr10Ter) rs1428157543 0.00001
NM_020822.3(KCNT1):c.1257C>G (p.Val419=) rs547714141 0.00001
NM_020937.4(FANCM):c.5717-4T>A rs781258517 0.00001
NM_020975.6(RET):c.2538C>T (p.Leu846=) rs201816539 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) rs397509425 0.00001
NM_022455.5(NSD1):c.4883T>C (p.Met1628Thr) rs530920626 0.00001
NM_022455.5(NSD1):c.4966+15T>C rs587784130 0.00001
NM_022455.5(NSD1):c.6043T>C (p.Tyr2015His) rs587784175 0.00001
NM_024301.5(FKRP):c.699G>A (p.Val233=) rs764527541 0.00001
NM_024306.5(FA2H):c.806G>A (p.Arg269His) rs1429546236 0.00001
NM_024649.5(BBS1):c.1626A>G (p.Pro542=) rs780444865 0.00001
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln) rs587778586 0.00001
NM_024675.4(PALB2):c.2508C>G (p.Val836=) rs786203603 0.00001
NM_024675.4(PALB2):c.899C>T (p.Thr300Ile) rs528541334 0.00001
NM_024757.5(EHMT1):c.2755G>A (p.Val919Met) rs749976725 0.00001
NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter) rs755750961 0.00001
NM_025074.7(FRAS1):c.4098C>T (p.Ile1366=) rs1027609786 0.00001
NM_030665.4(RAI1):c.1110T>G (p.Phe370Leu) rs754037858 0.00001
NM_030665.4(RAI1):c.12T>C (p.Phe4=) rs755209169 0.00001
NM_030665.4(RAI1):c.1850C>A (p.Ala617Asp) rs549244691 0.00001
NM_030665.4(RAI1):c.5652C>T (p.Ser1884=) rs567884332 0.00001
NM_030928.4(CDT1):c.1632G>C (p.Glu544Asp) rs556429460 0.00001
NM_031448.6(C19orf12):c.161-2del rs1352744778 0.00001
NM_032043.3(BRIP1):c.1473+6A>G rs587780827 0.00001
NM_032043.3(BRIP1):c.1474-3T>C rs552752779 0.00001
NM_032043.3(BRIP1):c.627+5G>A rs745727200 0.00001
NM_032119.4(ADGRV1):c.2021A>G (p.Tyr674Cys) rs761220696 0.00001
NM_032383.5(HPS3):c.789A>G (p.Glu263=) rs927155737 0.00001
NM_032638.5(GATA2):c.1020G>A (p.Ser340=) rs370166358 0.00001
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410 0.00001
NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp) rs765730332 0.00001
NM_130839.5(UBE3A):c.1272C>T (p.Pro424=) rs1057520392 0.00001
NM_130839.5(UBE3A):c.176G>A (p.Arg59His) rs587784511 0.00001
NM_130839.5(UBE3A):c.1881T>C (p.Asp627=) rs587784522 0.00001
NM_130839.5(UBE3A):c.1965A>G (p.Leu655=) rs371296838 0.00001
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=) rs571024836 0.00001
NM_133433.4(NIPBL):c.5295G>A (p.Pro1765=) rs758853244 0.00001
NM_133433.4(NIPBL):c.6400C>T (p.Leu2134=) rs372730081 0.00001
NM_133433.4(NIPBL):c.7641C>T (p.Leu2547=) rs587784046 0.00001
NM_133642.5(LARGE1):c.1611G>A (p.Glu537=) rs372629986 0.00001
NM_138386.3(NAF1):c.36A>G (p.Glu12=) rs959538930 0.00001
NM_138386.3(NAF1):c.878+7A>G rs376575422 0.00001
NM_139058.3(ARX):c.807C>T (p.Ala269=) rs587783205 0.00001
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs) rs747217399 0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356 0.00001
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys) rs138453594 0.00001
NM_152703.5(SAMD9L):c.2957G>A (p.Arg986His) rs769611275 0.00001
NM_152703.5(SAMD9L):c.4394G>A (p.Arg1465His) rs190393069 0.00001
NM_152783.5(D2HGDH):c.566C>T (p.Pro189Leu) rs587783517 0.00001
NM_153252.5(BRWD3):c.3690A>G (p.Ala1230=) rs797045419 0.00001
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555 0.00001
NM_170707.4(LMNA):c.1773C>T (p.Cys591=) rs397517897 0.00001
NM_172351.3(CD46):c.1050G>A (p.Pro350=) rs1210978043 0.00001
NM_175914.5(HNF4A):c.1243C>T (p.Pro415Ser) rs150776703 0.00001
NM_178161.3(PTF1A):c.499G>A (p.Ala167Thr) rs565666569 0.00001
NM_182961.4(SYNE1):c.16867C>T (p.Arg5623Cys) rs570556738 0.00001
NM_182961.4(SYNE1):c.7611G>T (p.Arg2537Ser) rs568309673 0.00001
NM_194292.3(SASS6):c.86G>A (p.Ser29Asn) rs150589706 0.00001
NM_201525.4(ADGRG1):c.286C>T (p.Arg96Ter) rs146278035 0.00001
NM_201525.4(ADGRG1):c.64+15G>T rs200303272 0.00001
NM_207346.3(TSEN54):c.1074G>A (p.Glu358=) rs775864125 0.00001
NM_213622.4(STAMBP):c.125A>G (p.Glu42Gly) rs397509387 0.00001
NM_000017.4(ACADS):c.795+1G>A rs752978753
NM_000020.3(ACVRL1):c.1027C>T (p.Gln343Ter) rs1064796530
NM_000032.5(ALAS2):c.1567C>T (p.His523Tyr) rs199826743
NM_000032.5(ALAS2):c.231C>A (p.Leu77=) rs760900782
NM_000032.5(ALAS2):c.352G>A (p.Gly118Ser)
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly) rs72541813
NM_000038.6(APC):c.4765C>T (p.Arg1589Cys) rs72541813
NM_000038.6(APC):c.5840C>G (p.Thr1947Ser) rs575724078
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup) rs587780602
NM_000044.6(AR):c.1370GCG[12] (p.Gly469_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[13] (p.Gly470_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[19] (p.Gly472_Gly473dup) rs746853821
NM_000044.6(AR):c.171GCA[20] (p.Gln78_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[24] (p.Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[25] (p.Gln79_Gln80dup) rs3032358
NM_000044.6(AR):c.1846C>T (p.Arg616Cys) rs1555990485
NM_000044.6(AR):c.654C>T (p.Pro218=) rs751027309
NM_000051.4(ATM):c.1367del (p.Leu456fs) rs1555070832
NM_000051.4(ATM):c.1380G>C (p.Thr460=) rs145333518
NM_000051.4(ATM):c.1898+2T>G rs587782124
NM_000051.4(ATM):c.2148C>G (p.Val716=) rs1800701
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
NM_000051.4(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.4(ATM):c.3154-4G>A rs199543313
NM_000051.4(ATM):c.3403-13dup rs3218681
NM_000051.4(ATM):c.3994-12G>T rs1057520398
NM_000051.4(ATM):c.4179C>A (p.Ile1393=) rs775688446
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.4(ATM):c.5011G>T (p.Val1671Phe) rs1057523385
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys) rs150503164
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.4(ATM):c.743G>T (p.Arg248Leu) rs769166447
NM_000051.4(ATM):c.7921C>T (p.Gln2641Ter) rs769523686
NM_000051.4(ATM):c.8419-8A>G rs567215034
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter) rs72554636
NM_000052.7(ATP7A):c.1460C>A (p.Ser487Ter) rs797045330
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter) rs797045332
NM_000052.7(ATP7A):c.1782C>G (p.Tyr594Ter) rs797045336
NM_000052.7(ATP7A):c.1870-1G>C rs797045338
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter) rs797045339
NM_000052.7(ATP7A):c.1885G>C (p.Ala629Pro) rs72554639
NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu) rs151340631
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000052.7(ATP7A):c.1946+1G>C rs797045340
NM_000052.7(ATP7A):c.1946+5G>A rs797045341
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg) rs797045344
NM_000052.7(ATP7A):c.2172+5G>C rs797045347
NM_000052.7(ATP7A):c.2172G>T (p.Gln724His) rs797045348
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg) rs72554644
NM_000052.7(ATP7A):c.2183G>A (p.Gly728Asp) rs797045350
NM_000052.7(ATP7A):c.2187G>A (p.Trp729Ter) rs797045351
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) rs72554645
NM_000052.7(ATP7A):c.2499-1G>A rs797045359
NM_000052.7(ATP7A):c.2555C>T (p.Pro852Leu) rs797045360
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter) rs72554649
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter) rs72554650
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu) rs797045365
NM_000052.7(ATP7A):c.3056G>A (p.Gly1019Asp) rs72554652
NM_000052.7(ATP7A):c.3112-1G>A rs797045367
NM_000052.7(ATP7A):c.3801+1G>T rs797045386
NM_000052.7(ATP7A):c.3801+4A>G rs797045387
NM_000052.7(ATP7A):c.3943G>A (p.Gly1315Arg) rs797045390
NM_000052.7(ATP7A):c.4005+1G>T rs797045391
NM_000052.7(ATP7A):c.4011TCT[1] (p.Leu1339del) rs797045392
NM_000052.7(ATP7A):c.4123+1G>A rs797045393
NM_000052.7(ATP7A):c.4132dup (p.Met1378fs) rs797045395
NM_000052.7(ATP7A):c.4226+5G>A rs797045398
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter) rs151340633
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val) rs587783301
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs) rs768729972
NM_000053.4(ATP7B):c.3011A>C (p.Gln1004Pro) rs587783307
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser) rs587783317
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs) rs771603301
NM_000057.4(BLM):c.387_389del (p.Lys130del) rs587778105
NM_000057.4(BLM):c.4077-59_4077-57dup rs10685387
NM_000059.4(BRCA2):c.*8C>T rs747134610
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.10230C>A (p.Asp3410Glu) rs80358404
NM_000059.4(BRCA2):c.162CAA[1] (p.Asn56del) rs11571587
NM_000059.4(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.4(BRCA2):c.2793A>C (p.Gly931=) rs786201315
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) rs276174831
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del) rs80359406
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.4(BRCA2):c.4563A>C (p.Leu1521=) rs206075
NM_000059.4(BRCA2):c.5095G>A (p.Asp1699Asn) rs80358731
NM_000059.4(BRCA2):c.6423T>G (p.Gly2141=) rs780721021
NM_000059.4(BRCA2):c.7188G>A (p.Leu2396=) rs587780871
NM_000059.4(BRCA2):c.7188G>T (p.Leu2396Phe) rs587780871
NM_000059.4(BRCA2):c.741C>T (p.Ile247=) rs276174892
NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser) rs587781485
NM_000059.4(BRCA2):c.8355T>C (p.Pro2785=) rs1057524419
NM_000059.4(BRCA2):c.8488-5T>C rs533806629
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000059.4(BRCA2):c.9302T>C (p.Leu3101Pro) rs28897758
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000064.4(C3):c.-3_-2dup rs528697923
NM_000070.3(CAPN3):c.2207_2208del (p.Thr736fs) rs587780289
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs) rs797045427
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup) rs587780668
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000081.4(LYST):c.5461-3dup rs557545474
NM_000081.4(LYST):c.8802-2A>G
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter) rs751292948
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_000135.2(FANCA):c.-138_-126dup rs11275235
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter) rs149551759
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter) rs1555547474
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.4096C>T (p.Gln1366Ter) rs1336834251
NM_000143.4(FH):c.1237-14_1237-9dup rs779985493
NM_000143.4(FH):c.1237-50TC[15] rs144131869
NM_000143.4(FH):c.1237-50TC[22] rs144131869
NM_000143.4(FH):c.1237-50TC[26] rs144131869
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro) rs775450536
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs) rs1567835781
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn) rs1064793134
NM_000162.5(GCK):c.1147T>C (p.Ser383Pro) rs749298368
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) rs1167124132
NM_000162.5(GCK):c.1229G>A (p.Gly410Asp) rs1554334546
NM_000162.5(GCK):c.130G>A (p.Gly44Ser) rs267601516
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln) rs1131691416
NM_000162.5(GCK):c.158C>T (p.Ala53Val) rs2128823130
NM_000162.5(GCK):c.215G>A (p.Gly72Glu) rs2128822720
NM_000162.5(GCK):c.364C>G (p.Leu122Val) rs1554335616
NM_000162.5(GCK):c.469G>A (p.Glu157Lys) rs1554335570
NM_000162.5(GCK):c.477C>G (p.Ile159Met) rs1554335567
NM_000162.5(GCK):c.617C>T (p.Thr206Met) rs1441649062
NM_000162.5(GCK):c.623C>T (p.Ala208Val) rs746913146
NM_000162.5(GCK):c.629T>C (p.Met210Thr) rs80356654
NM_000162.5(GCK):c.666del (p.Gly223fs) rs2096278285
NM_000162.5(GCK):c.835G>C (p.Glu279Gln) rs104894005
NM_000162.5(GCK):c.871A>G (p.Lys291Glu) rs193922335
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) rs267606845
NM_000165.5(GJA1):c.717G>A (p.Arg239=) rs57946868
NM_000173.7(GP1BA):c.1305_1320del (p.Thr436fs) rs758041497
NM_000173.7(GP1BA):c.1321_1359del (p.415_427SEPAPSPTTPEPT[2]) rs1259394995
NM_000179.3(MSH6):c.216C>G (p.Leu72=) rs963404377
NM_000179.3(MSH6):c.255C>A (p.Pro85=) rs587779242
NM_000179.3(MSH6):c.2986T>C (p.Leu996=) rs876658605
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala) rs63750998
NM_000179.3(MSH6):c.3354G>A (p.Glu1118=) rs35642130
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4068G>A (p.Leu1356=) rs192740549
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu) rs267608079
NM_000195.5(HPS1):c.1531C>A (p.Arg511=) rs147748659
NM_000195.5(HPS1):c.1744-5C>T rs369429846
NM_000195.5(HPS1):c.233_242del (p.Asn78fs) rs773323079
NM_000195.5(HPS1):c.848G>C (p.Gly283Ala) rs74154475
NM_000207.2(INS):c.-152C>A rs748749585
NM_000207.3(INS):c.-17-70G>A rs1554920985
NM_000207.3(INS):c.-18+21C>T rs568856178
NM_000207.3(INS):c.163C>T (p.Arg55Cys) rs121908261
NM_000207.3(INS):c.292A>T (p.Ser98Cys) rs1252051752
NM_000207.3(INS):c.299G>A (p.Cys100Tyr)
NM_000207.3(INS):c.320ACT[1] (p.Tyr108del) rs1554920552
NM_000208.4(INSR):c.1179G>T (p.Gly393=) rs140573575
NM_000208.4(INSR):c.489C>A (p.Ile163=) rs530955658
NM_000208.4(INSR):c.653-23TC[11] rs3835070
NM_000208.4(INSR):c.653-23TC[12] rs3835070
NM_000208.4(INSR):c.653-23TC[8] rs3835070
NM_000208.4(INSR):c.653-23TC[9] rs3835070
NM_000209.4(PDX1):c.285G>A (p.Pro95=) rs797045885
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000218.3(KCNQ1):c.364dup (p.Cys122fs) rs397508109
NM_000233.4(LHCGR):c.337T>A (p.Tyr113Asn) rs140691492
NM_000245.4(MET):c.2584-7del rs587780736
NM_000249.4(MLH1):c.1266C>T (p.Gly422=) rs63750791
NM_000249.4(MLH1):c.1559-11T>C rs730881750
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del) rs63750486
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000251.3(MSH2):c.2458+10A>G rs1269379998
NM_000251.3(MSH2):c.2616G>A (p.Lys872=) rs1573579171
NM_000251.3(MSH2):c.965G>T (p.Gly322Val) rs4987188
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu) rs587783766
NM_000252.3(MTM1):c.1260+5G>A rs587783769
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.1262G>T (p.Arg421Leu) rs587783772
NM_000252.3(MTM1):c.1291G>A (p.Asp431Asn) rs886044782
NM_000252.3(MTM1):c.1353G>A (p.Gln451=) rs587783781
NM_000252.3(MTM1):c.1367T>C (p.Phe456Ser) rs587783783
NM_000252.3(MTM1):c.1406A>G (p.His469Arg) rs587783789
NM_000252.3(MTM1):c.145G>A (p.Val49Ile) rs587783796
NM_000252.3(MTM1):c.1537_1564delinsAACTGGA (p.Phe513_Leu522delinsAsnTrpIle) rs398123271
NM_000252.3(MTM1):c.301A>G (p.Ser101Gly) rs587783818
NM_000252.3(MTM1):c.629A>G (p.Asp210Gly) rs587783842
NM_000252.3(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000252.3(MTM1):c.679G>A (p.Val227Met) rs587783850
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg) rs398123274
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs) rs1555099541
NM_000264.5(PTCH1):c.-24GGC[5] rs71366293
NM_000264.5(PTCH1):c.-24GGC[6] rs71366293
NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu) rs143494325
NM_000271.5(NPC1):c.3246-2A>G rs886042268
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000273.3(GPR143):c.682C>T (p.Gln228Ter) rs2083414866
NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg) rs747214535
NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg) rs779850564
NM_000275.3(OCA2):c.2208G>T (p.Ser736=) rs1800418
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000276.4(OCRL):c.471T>G (p.Ser157=) rs747396791
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa) rs762505127
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup) rs750077647
NM_000310.4(PPT1):c.627+4A>G rs572153728
NM_000314.6(PTEN):c.-868G>C rs587782133
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000330.4(RS1):c.185-3281C>G rs148531754
NM_000349.3(STAR):c.120G>A (p.Leu40=) rs138786388
NM_000352.6(ABCC8):c.1879del (p.His627fs) rs764613146
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg) rs797045208
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs) rs1554913069
NM_000352.6(ABCC8):c.3290A>C (p.His1097Pro) rs1352191146
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val) rs2133711315
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000352.6(ABCC8):c.4119+1G>A rs797045211
NM_000352.6(ABCC8):c.413-5G>A rs186946111
NM_000352.6(ABCC8):c.4132G>A (p.Gly1378Ser) rs925231098
NM_000352.6(ABCC8):c.4368C>G (p.Ile1456Met) rs193922403
NM_000352.6(ABCC8):c.4613G>A (p.Arg1538Gln) rs1564869850
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.6(ABCC8):c.805del (p.Ala269fs) rs1564976749
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala) rs797046081
NM_000372.5(TYR):c.616G>A (p.Ala206Thr) rs28940880
NM_000372.5(TYR):c.661G>A (p.Glu221Lys) rs758115945
NM_000372.5(TYR):c.820-3C>G rs61754371
NM_000372.5(TYR):c.982G>A (p.Glu328Lys) rs61754380
NM_000377.3(WAS):c.1080A>C (p.Pro360=) rs1409607754
NM_000377.3(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_000381.4(MID1):c.1510T>C (p.Leu504=) rs797045704
NM_000381.4(MID1):c.661-8_661-7del rs375668839
NM_000383.4(AIRE):c.1404G>A (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520
NM_000384.3(APOB):c.10848del (p.Gly3617fs) rs982371659
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys)
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn)
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)
NM_000384.3(APOB):c.1853C>T (p.Ala618Val)
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
NM_000384.3(APOB):c.293C>T (p.Thr98Ile)
NM_000384.3(APOB):c.6936_6937inv (p.Ile2313Val)
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu)
NM_000388.4(CASR):c.1901T>C (p.Phe634Ser) rs2107649591
NM_000388.4(CASR):c.2489G>A (p.Gly830Asp) rs193922436
NM_000426.4(LAMA2):c.2756G>T (p.Arg919Leu) rs35277491
NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser) rs35065563
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_000430.4(PAFAH1B1):c.484G>A (p.Gly162Ser) rs121434487
NM_000430.4(PAFAH1B1):c.703_704del (p.Glu235fs) rs797045865
NM_000439.5(PCSK1):c.239G>A (p.Arg80Gln) rs1799904
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp) rs368466538
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000458.4(HNF1B):c.657C>T (p.Ser219=) rs148713761
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly) rs76744638
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter) rs551472773
NM_000489.6(ATRX):c.1446A>G (p.Glu482=) rs886044778
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.6(ATRX):c.4035G>A (p.Leu1345=) rs111725949
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del) rs398123423
NM_000489.6(ATRX):c.4620TGAAGA[1] (p.1540DE[1]) rs797045406
NM_000489.6(ATRX):c.654A>G (p.Glu218=) rs782378258
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000516.7(GNAS):c.138G>A (p.Leu46=) rs760146185
NM_000516.7(GNAS):c.304G>A (p.Ala102Thr) rs2146178601
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser) rs1057521137
NM_000525.4(KCNJ11):c.-559G>C rs547932593
NM_000525.4(KCNJ11):c.405dup (p.Arg136fs) rs557160758
NM_000525.4(KCNJ11):c.536A>C (p.Glu179Ala) rs587783671
NM_000525.4(KCNJ11):c.556C>G (p.His186Asp) rs2133380076
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000535.7(PMS2):c.1224T>C (p.Thr408=) rs1554298007
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln) rs63750668
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=) rs2229145
NM_000540.3(RYR1):c.10564C>A (p.Leu3522Met) rs200144997
NM_000540.3(RYR1):c.10725_10726del (p.Tyr3576fs) rs1555790936
NM_000540.3(RYR1):c.12990C>G (p.Thr4330=) rs184450380
NM_000540.3(RYR1):c.12990C>T (p.Thr4330=) rs184450380
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.13768G>A (p.Glu4590Lys) rs766518951
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.3(RYR1):c.14600G>A (p.Ser4867Asn) rs587784373
NM_000540.3(RYR1):c.14646G>A (p.Thr4882=) rs536148030
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln) rs118192151
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.2870+1G>A rs765241115
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp) rs559581937
NM_000540.3(RYR1):c.3801dup (p.Cys1268fs) rs587784374
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del) rs371047178
NM_000540.3(RYR1):c.6127+1G>A rs1283302989
NM_000540.3(RYR1):c.7584C>T (p.Pro2528=) rs1465698
NM_000540.3(RYR1):c.897G>C (p.Val299=) rs76854339
NM_000545.8(HNF1A):c.155_156delinsCT (p.Gly52Ala) rs587778393
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met) rs886039544
NM_000545.8(HNF1A):c.872C>A (p.Pro291Gln) rs193922606
NM_000546.6(TP53):c.1073A>T (p.Glu358Val) rs773553186
NM_000546.6(TP53):c.1079G>T (p.Gly360Val) rs35993958
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.32del (p.Gly10_Leu11insTer) rs796053515
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.5094C>T (p.Ser1698=) rs45514196
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=) rs1051771
NM_000550.3(TYRP1):c.138C>T (p.Ser46=) rs185178312
NM_000551.4(VHL):c.-61_-51dup rs727503743
NM_000551.4(VHL):c.593T>C (p.Leu198Pro) rs869025667
NM_000552.5(VWF):c.3692A>C (p.Asn1231Thr) rs61749368
NM_000744.7(CHRNA4):c.1209G>T (p.Pro403=) rs2229959
NM_000751.3(CHRND):c.932+5G>A rs797045474
NM_000791.4(DHFR):c.-437GGGGCGCTG[4] rs60484572
NM_000791.4(DHFR):c.-437GGGGCGCTG[5] rs60484572
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile) rs1057519004
NM_000834.5(GRIN2B):c.1806C>T (p.Ile602=) rs1805522
NM_000834.5(GRIN2B):c.1946A>G (p.Asn649Ser) rs879253945
NM_000834.5(GRIN2B):c.4309G>A (p.Ala1437Thr) rs797045608
NM_000939.4(POMC):c.280AGCAGCGGC[3] (p.94SSG[3]) rs10654394
NM_000939.4(POMC):c.394C>G (p.Pro132Ala) rs8192606
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys) rs797045412
NM_001005361.3(DNM2):c.590-31CCTCTGA[3] rs748362325
NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17]) rs60216939
NM_001008537.3(NEXMIF):c.1998AGA[1] (p.Glu667del) rs764439412
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del) rs1596550396
NM_001012339.3(DNAJC21):c.743+10G>A rs371751945
NM_001018113.3(FANCB):c.1105-26TATT[7] rs398123537
NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn) rs56041034
NM_001024630.4(RUNX2):c.172CAACAGCAGCAGCAGCAGCAG[1] (p.Gln65_Gln71del) rs774172072
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101
NM_001029896.2(WDR45):c.966dup (p.Val323fs) rs797046105
NM_001032221.6(STXBP1):c.144A>C (p.Thr48=) rs1462537561
NM_001032221.6(STXBP1):c.6C>A (p.Ala2=) rs144094037
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001032382.2(PQBP1):c.393_413del (p.127GHDKSDR[1]) rs782547972
NM_001032386.2(SUOX):c.1281G>C (p.Ser427=) rs773115
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) rs786205830
NM_001040142.2(SCN2A):c.2567G>A (p.Arg856Gln) rs797045942
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040616.3(LINS1):c.1632C>T (p.Asn544=) rs772619184
NM_001040716.2(PC):c.1357C>T (p.Arg453Ter) rs768514713
NM_001040716.2(PC):c.1513+9C>A rs45580638
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_001042492.3(NF1):c.241C>A (p.Leu81Ile) rs587782772
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001069.3(TUBB2A):c.1033A>T (p.Ile345Phe) rs797046074
NM_001069.3(TUBB2A):c.1163T>C (p.Met388Thr) rs1554122911
NM_001070.5(TUBG1):c.1021C>T (p.Arg341Trp) rs1057518249
NM_001070.5(TUBG1):c.776C>T (p.Ser259Leu) rs1555631383
NM_001077365.2(POMT1):c.123-6_123-5dup rs148086540
NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)
NM_001080414.4(CCDC88C):c.1608A>G (p.Arg536=) rs61743971
NM_001080510.5(METTL23):c.169_172del (p.His57fs) rs587777644
NM_001080517.3(SETD5):c.330-6C>T rs1448139711
NM_001080517.3(SETD5):c.3862G>A (p.Gly1288Ser) rs755607090
NM_001080517.3(SETD5):c.3894C>A (p.Ser1298=) rs535076039
NM_001082538.3(TCTN1):c.699TAA[1] (p.Asn235del) rs797046038
NM_001083116.3(PRF1):c.132C>A (p.Ala44=) rs181323749
NM_001083961.2(WDR62):c.1233+15del rs373693641
NM_001083961.2(WDR62):c.1641G>T (p.Thr547=) rs2301734
NM_001083961.2(WDR62):c.2112G>C (p.Ser704=) rs115453534
NM_001083961.2(WDR62):c.2334-29C>T rs2301737
NM_001083961.2(WDR62):c.269+12del rs797046108
NM_001083962.2(TCF4):c.1299G>A (p.Leu433=) rs552340151
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln) rs121909121
NM_001083962.2(TCF4):c.1741G>T (p.Val581Phe) rs587784460
NM_001083962.2(TCF4):c.1965dup (p.Gly656fs) rs797046035
NM_001083962.2(TCF4):c.655+1G>A rs587784465
NM_001083962.2(TCF4):c.990G>A (p.Ser330=) rs587784469
NM_001098511.3(KIF2A):c.959C>T (p.Thr320Ile) rs1554042050
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001110556.2(FLNA):c.25G>T (p.Gly9Cys) rs782292045
NM_001110556.2(FLNA):c.3429C>G (p.Thr1143=) rs183899917
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001110556.2(FLNA):c.7092C>A (p.Ile2364=) rs782591917
NM_001110792.2(MECP2):c.-31AG[2] rs587783128
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1198CCACCT[1] (p.Pro402_Pro403del) rs61753008
NM_001110792.2(MECP2):c.1206_1243del (p.Pro402_Pro403insTer) rs267608609
NM_001110792.2(MECP2):c.1273T>C (p.Cys425Arg) rs797045692
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) rs61753973
NM_001110792.2(MECP2):c.230C>G (p.Ser77Ter) rs61754437
NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser) rs61754452
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg) rs61754453
NM_001110792.2(MECP2):c.33AGG[7] (p.Gly15_Gly16dup) rs587783744
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly) rs61748403
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup) rs398123566
NM_001110792.2(MECP2):c.709C>A (p.Pro237Thr) rs267608513
NM_001110792.2(MECP2):c.725_792del (p.Pro242fs) rs1557136493
NM_001110792.2(MECP2):c.772_779delinsGTG (p.Met258fs) rs267608520
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys) rs141382970
NM_001110792.2(MECP2):c.786C>T (p.Arg262=) rs61748424
NM_001110792.2(MECP2):c.788_789dup (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.870_975del (p.Ala291fs) rs1557136146
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.92dup (p.Leu33fs) rs267608417
NM_001110792.2(MECP2):c.953G>A (p.Arg318His) rs61751443
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001113378.2(FANCI):c.3721-127_3721-126insGTACAA rs55725136
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001114753.3(ENG):c.1208T>C (p.Phe403Ser) rs1830433526
NM_001114753.3(ENG):c.1429-1G>A rs2131876244
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro) rs1554810378
NM_001118887.2(ANGPT2):c.408G>C (p.Ala136=) rs6559167
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[2] (p.152APVA[2]) rs565544512
NM_001122630.2(CDKN1C):c.567_584del (p.186_187AP[7]) rs878853636
NM_001122630.2(CDKN1C):c.573GGCCCC[2] (p.186AP[8]) rs759134767
NM_001122630.2(CDKN1C):c.573GGCCCC[3] (p.186AP[9]) rs759134767
NM_001122630.2(CDKN1C):c.573GGCCCC[5] (p.186AP[11]) rs759134767
NM_001122955.4(BSCL2):c.1005+4G>T rs367731146
NM_001123385.2(BCOR):c.1779C>A (p.Ser593=) rs17145652
NM_001123385.2(BCOR):c.3305T>C (p.Val1102Ala) rs111622737
NM_001126049.2(KLLN):c.-1007C>T rs587780001
NM_001126049.2(KLLN):c.-955G>T rs587781128
NM_001127208.3(TET2):c.2429A>G (p.Gln810Arg) rs28555446
NM_001127222.2(CACNA1A):c.1039G>A (p.Gly347Ser) rs977960069
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg) rs2144980758
NM_001127222.2(CACNA1A):c.2255C>A (p.Ser752Tyr) rs535900273
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=) rs16021
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.654G>C (p.Ser218=) rs201991581
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup) rs768950814
NM_001127644.2(GABRA1):c.74+9A>T rs41275339
NM_001128126.3(AP4S1):c.306+4182dup rs766477779
NM_001128159.3(VPS53):c.2458C>G (p.Arg820Gly) rs561656938
NM_001128164.2(ATXN1):c.588GCA[12] (p.Gln208del) rs193922926
NM_001128164.2(ATXN1):c.927T>G (p.Ala309=) rs179990
NM_001128840.3(CACNA1D):c.3279G>A (p.Ala1093=) rs36061665
NM_001128840.3(CACNA1D):c.3701A>G (p.Asn1234Ser) rs147146258
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363
NM_001128840.3(CACNA1D):c.6341G>T (p.Arg2114Leu) rs149416995
NM_001130438.3(SPTAN1):c.3215+15_3215+16del rs551595039
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.651+37A>C rs2297769
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del) rs587784438
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.862G>C (p.Ala288Pro) rs796053298
NM_001130987.2(DYSF):c.1518C>T (p.Ile506=) rs34387018
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu) rs61742872
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) rs34999029
NM_001134407.3(GRIN2A):c.3468A>T (p.Glu1156Asp) rs778180100
NM_001134407.3(GRIN2A):c.3701del (p.Phe1234fs) rs886041308
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_001134665.3(TRMT10A):c.206G>A (p.Arg69His) rs147815779
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) rs797045223
NM_001143992.2(WRAP53):c.729C>A (p.Ser243=) rs570343418
NM_001146262.4(SYT14):c.672AGA[1] (p.Glu225del) rs2307890
NM_001160372.4(TRAPPC9):c.1326G>A (p.Ser442=) rs145960296
NM_001160372.4(TRAPPC9):c.269A>G (p.Lys90Arg) rs550423753
NM_001160372.4(TRAPPC9):c.3225C>A (p.Tyr1075Ter) rs58740567
NM_001160372.4(TRAPPC9):c.3225C>T (p.Tyr1075=) rs58740567
NM_001163809.2(WDR81):c.5556C>T (p.Thr1852=) rs1045794
NM_001164508.2(NEB):c.18997-10T>C rs4544436
NM_001164508.2(NEB):c.21546C>T (p.Asn7182=) rs149510427
NM_001164508.2(NEB):c.23649+10_23649+11del rs772001300
NM_001164508.2(NEB):c.2499del (p.Ala834fs) rs1553564693
NM_001164508.2(NEB):c.3567+1G>A rs587780399
NM_001165963.4(SCN1A):c.3705+10del rs570862962
NM_001165963.4(SCN1A):c.5336A>G (p.Asn1779Ser) rs797045940
NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu) rs1553538919
NM_001182.5(ALDH7A1):c.201G>T (p.Thr67=) rs747643987
NM_001184.4(ATR):c.4852+21C>T rs587783332
NM_001184.4(ATR):c.5007T>C (p.Ile1669=) rs2108361083
NM_001184.4(ATR):c.5739-11_5739-4del rs797045404
NM_001184880.2(PCDH19):c.370G>C (p.Asp124His) rs796052797
NM_001194998.2(CEP152):c.3071G>T (p.Arg1024Leu) rs199914670
NM_001194998.2(CEP152):c.5079G>A (p.Pro1693=) rs577873248
NM_001195553.2(DCX):c.305G>A (p.Arg102His) rs267606317
NM_001195553.2(DCX):c.364G>A (p.Gly122Arg) rs587783544
NM_001195553.2(DCX):c.532C>T (p.Arg178Cys) rs587783558
NM_001195553.2(DCX):c.556C>T (p.Arg186Cys) rs587783562
NM_001195553.2(DCX):c.557G>A (p.Arg186His) rs587783563
NM_001195553.2(DCX):c.586C>A (p.Arg196Ser) rs587783568
NM_001195553.2(DCX):c.586C>T (p.Arg196Cys) rs587783568
NM_001195553.2(DCX):c.667G>A (p.Gly223Arg) rs587783577
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) rs786204428
NM_001197104.2(KMT2A):c.3461G>A (p.Arg1154Gln) rs1131691799
NM_001197104.2(KMT2A):c.3473G>A (p.Cys1158Tyr) rs1131691503
NM_001205254.2(OCLN):c.173_194del (p.Trp58fs) rs797045841
NM_001206999.2(CIT):c.4068C>T (p.Ile1356=) rs56006347
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_001244008.2(KIF1A):c.204G>T (p.Ala68=) rs141052770
NM_001244008.2(KIF1A):c.2721GGA[9] (p.Glu916_Glu917del) rs10594016
NM_001244008.2(KIF1A):c.3072C>G (p.Ser1024=) rs73102625
NM_001244008.2(KIF1A):c.3072C>T (p.Ser1024=) rs73102625
NM_001244008.2(KIF1A):c.5064G>A (p.Pro1688=) rs527977882
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001253852.3(AP4B1):c.338+5G>A rs1019204290
NM_001256053.2(ANKRD26):c.1815-2_1815del rs564681878
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.101613G>A (p.Arg33871=) rs797046068
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) rs149523263
NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser) rs200972189
NM_001267550.2(TTN):c.26762-10_26762-9insTTGTTTTGTA rs1553893826
NM_001267550.2(TTN):c.26762-39TTTGT[7] rs71393436
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3]) rs587780487
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg) rs72650066
NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1]) rs139512154
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del) rs727504199
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.65187G>A (p.Glu21729=) rs397517660
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys) rs55933739
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys) rs11887722
NM_001267550.2(TTN):c.91071T>G (p.Thr30357=) rs11897366
NM_001276270.2(MBD4):c.939dup (p.Glu314fs) rs558765093
NM_001278064.2(GRM1):c.3213T>G (p.Pro1071=) rs1047006
NM_001278116.2(L1CAM):c.1581A>C (p.Thr527=) rs201131192
NM_001278182.2(EOMES):c.358_359insGCGCCG (p.Ala119_Ala120insGlyAla) rs1553745484
NM_001282531.3(ADNP):c.422_424dup (p.Ser141dup) rs577498739
NM_001283009.2(RTEL1):c.2310AGA[1] (p.Glu771del) rs558133631
NM_001283009.2(RTEL1):c.3381C>T (p.Arg1127=) rs368588082
NM_001283009.2(RTEL1):c.901_919+72del rs1569090870
NM_001289104.2(PRKCSH):c.812G>A (p.Arg271His)
NM_001289104.2(PRKCSH):c.939GGA[11] (p.Glu325dup) rs3217229
NM_001291303.3(FAT4):c.7466C>T (p.Ala2489Val) rs144853732
NM_001291415.2(KDM6A):c.42CGC[4] (p.Ala17dup) rs797044622
NM_001291867.2(NHS):c.207GCC[3] (p.Pro73del) rs10590816
NM_001291867.2(NHS):c.4428_4430dup (p.Ser1480dup) rs398124609
NM_001308093.3(GATA4):c.702G>A (p.Thr234=) rs55788387
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe) rs267608437
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly) rs587783406
NM_001330078.2(NRXN1):c.2507C>T (p.Ala836Val) rs199557987
NM_001330078.2(NRXN1):c.3618C>T (p.Ile1206=) rs1573859191
NM_001330078.2(NRXN1):c.772+9del rs755130575
NM_001330260.2(SCN8A):c.1999-5del rs769940455
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461
NM_001348800.3(ZBTB20):c.491G>A (p.Arg164Gln) rs1455665941
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His) rs797045586
NM_001349338.3(FOXP1):c.1652+5G>A rs794727216
NM_001353108.3(CEP63):c.989_992del (p.Asp330fs) rs797045459
NM_001354604.2(MITF):c.583-9T>C rs1576007776
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del) rs1555954380
NM_001358921.2(COQ2):c.138dup (p.Ala47fs) rs759310292
NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser) rs146867923
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del) rs782576893
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup) rs782576893
NM_001363.5(DKC1):c.171+14del rs782433339
NM_001363.5(DKC1):c.915+10G>A rs1603429509
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001364905.1(LRBA):c.3789C>T (p.Asn1263=) rs150689413
NM_001365276.2(TNXB):c.9195G>A (p.Glu3065=) rs201944713
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001367624.2(ZNF469):c.10199C>T (p.Pro3400Leu) rs281165933
NM_001367721.1(CASK):c.1669-6dup rs746809939
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter) rs587783361
NM_001367721.1(CASK):c.2277C>T (p.Leu759=) rs758345399
NM_001367721.1(CASK):c.617G>A (p.Gly206Asp) rs587783367
NM_001367721.1(CASK):c.891A>G (p.Lys297=) rs544979992
NM_001367916.1(MAGT1):c.16C>T (p.Arg6Trp) rs140854076
NM_001368397.1(FRMPD4):c.3937C>A (p.Arg1313=) rs41303149
NM_001368397.1(FRMPD4):c.42-9C>A rs765633648
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001371623.1(TCOF1):c.1993G>C (p.Ala665Pro) rs2071240
NM_001372044.2(SHANK3):c.2103G>A (p.Thr701=) rs778640691
NM_001374828.1(ARID1B):c.1170CGG[10] (p.Gly401_Gly402dup) rs587779747
NM_001374828.1(ARID1B):c.1170CGG[5] (p.Gly400_Gly402del) rs587779747
NM_001374828.1(ARID1B):c.1170CGG[6] (p.Gly401_Gly402del) rs587779747
NM_001374828.1(ARID1B):c.1170CGG[9] (p.Gly402dup) rs587779747
NM_001374828.1(ARID1B):c.1194AGG[3] (p.Gly402del) rs587779748
NM_001374828.1(ARID1B):c.1211GAG[6] (p.Gly410_Gly411del) rs747790383
NM_001374828.1(ARID1B):c.1211GAG[7] (p.Gly411del) rs747790383
NM_001374828.1(ARID1B):c.1211GAG[9] (p.Gly411dup) rs747790383
NM_001374828.1(ARID1B):c.1235CAGGAG[1] (p.412AG[1]) rs747438636
NM_001374828.1(ARID1B):c.1238GAGCAGGAG[1] (p.413GAG[1]) rs771557031
NM_001374828.1(ARID1B):c.1292CAG[4] (p.Ala433dup) rs797045267
NM_001374828.1(ARID1B):c.1303GGC[5] (p.Gly440del) rs797045268
NM_001374828.1(ARID1B):c.1303GGC[7] (p.Gly440dup) rs797045268
NM_001374828.1(ARID1B):c.1620GGCGGCGGCGGG[1] (p.541AAAG[1]) rs1239601972
NM_001374828.1(ARID1B):c.3195G>A (p.Pro1065=) rs537901478
NM_001374828.1(ARID1B):c.352TCC[6] (p.Ser124del) rs770512547
NM_001374828.1(ARID1B):c.352TCC[8] (p.Ser124dup) rs770512547
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001374828.1(ARID1B):c.5310T>C (p.Leu1770=) rs372621575
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs) rs1554237269
NM_001374828.1(ARID1B):c.591GCA[8] (p.Gln214dup) rs587779743
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln213_Gln214dup) rs587779743
NM_001374828.1(ARID1B):c.594GCAGCAGCAGCAGCAGCAACAGCA[3] (p.Gln207_Gln214dup) rs770869529
NM_001374828.1(ARID1B):c.615GCA[8] (p.Gln214dup) rs587779744
NM_001374828.1(ARID1B):c.615GCA[9] (p.Gln213_Gln214dup) rs587779744
NM_001374828.1(ARID1B):c.954C>T (p.Gly318=) rs745740327
NM_001375380.1(EBF3):c.625C>T (p.Arg209Trp) rs779003155
NM_001375405.1(CEP120):c.779G>A (p.Arg260His) rs189429890
NM_001376.5(DYNC1H1):c.13548G>C (p.Val4516=) rs1555412737
NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys) rs797045535
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln) rs713993043
NM_001376.5(DYNC1H1):c.9069A>G (p.Gly3023=) rs532073330
NM_001378418.1(TCF20):c.150CAGTGG[2] (p.51SG[2]) rs541147459
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter) rs1473611414
NM_001378454.1(ALMS1):c.1571CTC[1] (p.Pro525del) rs34628045
NM_001378454.1(ALMS1):c.36GGA[11] (p.Glu27_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[9] (p.Glu25_Glu28del) rs55889738
NM_001378615.1(CC2D2A):c.1339del (p.Ala447fs) rs386833745
NM_001378615.1(CC2D2A):c.1978G>A (p.Val660Ile) rs16892134
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001379110.1(SLC9A6):c.1582-3C>T rs563279759
NM_001379110.1(SLC9A6):c.370-9_370-5del rs796053290
NM_001379500.1(COL18A1):c.2702TTC[1] (p.Leu902del) rs371849586
NM_001382289.1(FSHB):c.236_237del (p.Val79fs) rs5030646
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter) rs1402669959
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs) rs766020802
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001395413.1(POR):c.1405G>A (p.Val469Met) rs72557946
NM_001395891.1(CLASP1):c.196-604C>T rs181195449
NM_001543.5(NDST1):c.1749+8dup rs528143978
NM_001614.5(ACTG1):c.414C>T (p.Ala138=) rs143978597
NM_001614.5(ACTG1):c.558C>T (p.Thr186=) rs142893042
NM_001614.5(ACTG1):c.985-5dup rs782289893
NM_001643.2(APOA2):c.53-43TG[17] rs17244502
NM_001643.2(APOA2):c.53-43TG[21] rs17244502
NM_001710.6(CFB):c.1524C>T (p.His508=) rs138207668
NM_001807.6(CEL):c.61G>T (p.Ala21Ser) rs558100781
NM_001807.6(CEL):c.7C>T (p.Arg3Cys) rs201383133
NM_001830.4(CLCN4):c.2152C>T (p.Arg718Trp) rs879255584
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg) rs1878248687
NM_001848.3(COL6A1):c.1814-6C>G rs182804464
NM_001848.3(COL6A1):c.2783G>A (p.Arg928His) rs144671871
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=) rs11554669
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001904.4(CTNNB1):c.2042C>T (p.Ser681Phe) rs772401455
NM_001904.4(CTNNB1):c.2182G>C (p.Ala728Pro) rs797045504
NM_001904.4(CTNNB1):c.642C>G (p.Thr214=) rs3856747
NM_001931.5(DLAT):c.848_849del (p.Asp283fs) rs782704553
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
NM_001972.4(ELANE):c.606C>T (p.Ser202=) rs17216649
NM_001972.4(ELANE):c.746C>T (p.Ser249Phe) rs201224216
NM_001987.5(ETV6):c.614del (p.Leu205fs) rs1555144911
NM_001999.4(FBN2):c.2161G>A (p.Gly721Ser) rs149733159
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.809G>A (p.Arg270His) rs148971572
NM_002017.5(FLI1):c.1009C>T (p.Arg337Trp) rs1064797083
NM_002017.5(FLI1):c.1010G>A (p.Arg337Gln) rs1064797086
NM_002168.4(IDH2):c.695C>T (p.Ala232Val) rs1227626398
NM_002206.3(ITGA7):c.1088dup (p.His364fs) rs587780362
NM_002206.3(ITGA7):c.285G>T (p.Pro95=) rs17854601
NM_002241.5(KCNJ10):c.300C>A (p.Asp100Glu) rs139069413
NM_002291.3(LAMB1):c.1422C>G (p.Ser474=) rs780369106
NM_002303.6(LEPR):c.2642G>T (p.Cys881Phe) rs992720162
NM_002303.6(LEPR):c.893T>C (p.Ile298Thr)
NM_002335.4(LRP5):c.4458G>A (p.Ser1486=) rs75571306
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=) rs72610640
NM_002354.3(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_002397.5(MEF2C):c.2T>C (p.Met1Thr) rs545185248
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter) rs587783747
NM_002470.4(MYH3):c.5254G>A (p.Ala1752Thr) rs34393601
NM_002472.3(MYH8):c.3254+1G>T rs372740784
NM_002473.6(MYH9):c.257T>A (p.Met86Lys) rs774334908
NM_002485.5(NBN):c.-2C>A rs202104448
NM_002485.5(NBN):c.1398-10dup rs587780555
NM_002485.5(NBN):c.1974del (p.Glu658fs) rs1057516668
NM_002509.4(NKX2-2):c.108C>A (p.Asn36Lys) rs201064818
NM_002519.3(NPAT):c.2172T>C (p.Pro724=) rs1261971124
NM_002519.3(NPAT):c.2446A>G (p.Thr816Ala) rs34027029
NM_002519.3(NPAT):c.2760A>G (p.Gln920=) rs2134834493
NM_002519.3(NPAT):c.2910T>C (p.His970=) rs2134830919
NM_002519.3(NPAT):c.3199G>A (p.Asp1067Asn) rs79119325
NM_002547.3(OPHN1):c.1749A>C (p.Ala583=) rs35137641
NM_002547.3(OPHN1):c.249C>T (p.Ile83=) rs143598006
NM_002666.5(PLIN1):c.580C>G (p.Pro194Ala) rs6496589
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002693.3(POLG):c.126GCA[10] (p.Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.3(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.3(POLG):c.3700C>A (p.Arg1234=) rs144346886
NM_002693.3(POLG):c.970C>A (p.Pro324Thr) rs2307437
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002875.5(RAD51):c.896+6del rs544409089
NM_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del) rs113614842
NM_003002.4(SDHD):c.269C>T (p.Ala90Val) rs200255724
NM_003036.4(SKI):c.104C>G (p.Pro35Arg) rs397514589
NM_003038.5(SLC1A4):c.1313T>C (p.Ile438Thr) rs141895894
NM_003051.3(SLC16A1):c.-246dup rs58047463
NM_003051.4(SLC16A1):c.362-58TATT[13] rs149491709
NM_003051.4(SLC16A1):c.362-58TATT[9] rs149491709
NM_003070.5(SMARCA2):c.483G>T (p.Pro161=) rs146359524
NM_003070.5(SMARCA2):c.669GCA[10] (p.Gln236_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[14] (p.Gln238_Pro239insGln) rs113070757
NM_003070.5(SMARCA2):c.669GCA[15] (p.Gln238_Pro239insGlnGln) rs113070757
NM_003070.5(SMARCA2):c.669GCA[8] (p.Gln234_Gln238del) rs113070757
NM_003072.5(SMARCA4):c.*9A>T rs369766168
NM_003072.5(SMARCA4):c.1118+7del rs774132615
NM_003072.5(SMARCA4):c.223-4G>A rs763383326
NM_003072.5(SMARCA4):c.2896C>T (p.Arg966Trp) rs1227826852
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_003072.5(SMARCA4):c.3127C>T (p.Arg1043Trp) rs770014321
NM_003072.5(SMARCA4):c.722_733del (p.229GP[6]) rs568390760
NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu) rs797045989
NM_003108.4(SOX11):c.1039AGCGGCAGCAGC[3] (p.347SGSS[3]) rs751221446
NM_003108.4(SOX11):c.456_467del (p.Gly153_Gly156del) rs774530705
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro) rs368373840
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) rs864622507
NM_003282.4(TNNI2):c.525G>T (p.Lys175Asn) rs797046046
NM_003356.4(UCP3):c.63C>G (p.Gly21=) rs181883754
NM_003383.5(VLDLR):c.-42GGC[9] rs71329437
NM_003392.7(WNT5A):c.405G>T (p.Thr135=) rs147104982
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup) rs398123707
NM_003482.4(KMT2D):c.11290C>T (p.Gln3764Ter) rs587783682
NM_003482.4(KMT2D):c.11738AGC[6] (p.Gln3919del) rs576788910
NM_003482.4(KMT2D):c.11738AGC[8] (p.Gln3919dup) rs576788910
NM_003482.4(KMT2D):c.11796ACAGCAGCA[1] (p.Gln3937_Gln3939del) rs759803583
NM_003482.4(KMT2D):c.12705G>A (p.Gln4235=) rs905791071
NM_003482.4(KMT2D):c.12896del (p.Gly4299fs) rs587783686
NM_003482.4(KMT2D):c.1329_1332del (p.Pro444fs) rs587783689
NM_003482.4(KMT2D):c.13671+10dup rs147210845
NM_003482.4(KMT2D):c.13996_13997del (p.Arg4666fs) rs587783693
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.4(KMT2D):c.15668A>G (p.Asn5223Ser) rs779303083
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del) rs587783704
NM_003482.4(KMT2D):c.2232_2258del (p.746RPEEPHLSP[1]) rs398123736
NM_003482.4(KMT2D):c.2256_2282del (p.746RPEEPHLSP[1]) rs587783707
NM_003482.4(KMT2D):c.2283_2309del (p.Ala765_Gln773del) rs375538882
NM_003482.4(KMT2D):c.2798-7del rs112620957
NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs) rs398123744
NM_003482.4(KMT2D):c.4421G>A (p.Cys1474Tyr) rs587783718
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.4(KMT2D):c.7497C>T (p.Pro2499=) rs201218526
NM_003482.4(KMT2D):c.8053C>T (p.Arg2685Ter) rs587783727
NM_003482.4(KMT2D):c.8171_8175del (p.Pro2724fs) rs587783728
NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter) rs587783729
NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter) rs587784346
NM_003560.4(PLA2G6):c.673C>T (p.His225Tyr) rs587784359
NM_003560.4(PLA2G6):c.729_740del (p.Ala244_Asn247del) rs587784360
NM_003611.3(OFD1):c.2052C>T (p.Ser684=) rs61742891
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862
NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del) rs775006915
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer) rs111033335
NM_004064.5(CDKN1B):c.397C>A (p.Pro133Thr) rs137985549
NM_004113.6(FGF12):c.229-8del rs34265167
NM_004168.4(SDHA):c.-7A>C rs751633537
NM_004168.4(SDHA):c.1974G>C (p.Pro658=) rs1042446
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer) rs1553997617
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=) rs35353912
NM_004187.5(KDM5C):c.2517-9_2517-7dup rs398124111
NM_004260.4(RECQL4):c.2557TGCACC[4] (p.853CT[4]) rs548804317
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004260.4(RECQL4):c.3624C>A (p.Arg1208=) rs56341125
NM_004260.4(RECQL4):c.465C>G (p.Val155=) rs116137512
NM_004364.5(CEBPA):c.572ACCCGC[4] (p.191HP[4]) rs762459325
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser) rs77181645
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys) rs587783481
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del) rs587783502
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs) rs587783507
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His) rs142545779
NM_004387.4(NKX2-5):c.783del (p.Ala262fs) rs587784067
NM_004456.5(EZH2):c.118-4del rs3214332
NM_004456.5(EZH2):c.2187dup (p.Asp730Ter) rs797045568
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004523.4(KIF11):c.2922G>A (p.Pro974=)
NM_004525.3(LRP2):c.12125G>A (p.Arg4042His) rs199874294
NM_004525.3(LRP2):c.402C>A (p.Pro134=) rs34104660
NM_004525.3(LRP2):c.775G>C (p.Gly259Arg) rs34693334
NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu) rs41277835
NM_004560.4(ROR2):c.298G>A (p.Ala100Thr) rs374692105
NM_004586.3(RPS6KA3):c.594-10dup rs755566588
NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup) rs11466445
NM_004656.4(BAP1):c.458_459del (p.Pro153fs) rs1559590613
NM_004714.3(DYRK1B):c.60G>T (p.Thr20=) rs142943294
NM_004722.4(AP4M1):c.32del (p.Lys11fs) rs797045249
NM_004933.3(CDH15):c.2353G>A (p.Gly785Arg) rs149307887
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_004991.4(MECOM):c.1392G>A (p.Pro464=)
NM_004991.4(MECOM):c.2489+6C>T
NM_004991.4(MECOM):c.2772-7A>G
NM_004991.4(MECOM):c.884A>G (p.Gln295Arg)
NM_005006.7(NDUFS1):c.966G>T (p.Ala322=) rs1127566
NM_005022.4(PFN1):c.350_351delinsGT (p.Glu117Gly) rs1597686012
NM_005045.4(RELN):c.-24GGC[10] (p.Met1_Glu2insGlyGly) rs55656324
NM_005045.4(RELN):c.-24GGC[11] (p.Met1_Glu2insGlyGlyGly) rs55656324
NM_005045.4(RELN):c.-24GGC[15] (p.Met1_Glu2insGlyGlyGlyGlyGlyGlyGly) rs55656324
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del) rs762015967
NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser) rs73714410
NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup) rs757160341
NM_005120.3(MED12):c.6279ACAGCA[3] (p.Gln2114_Gln2115dup) rs761195801
NM_005120.3(MED12):c.6288GCA[10] (p.Gln2113_Gln2115dup) rs766775649
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005188.4(CBL):c.107ACC[8] (p.His42dup) rs373212940
NM_005188.4(CBL):c.107ACC[9] (p.His41_His42dup) rs373212940
NM_005188.4(CBL):c.1365T>C (p.Tyr455=) rs749044865
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup) rs397507494
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005236.3(ERCC4):c.580_584+1del rs776329282
NM_005249.5(FOXG1):c.1086G>A (p.Leu362=) rs570981209
NM_005249.5(FOXG1):c.209_235del (p.Gln70_Pro78del) rs587783634
NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup) rs786200975
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005249.5(FOXG1):c.672C>G (p.Gly224=) rs587783639
NM_005249.5(FOXG1):c.757A>G (p.Asn253Asp) rs587783641
NM_005257.6(GATA6):c.1367G>A (p.Arg456His) rs387906819
NM_005257.6(GATA6):c.969CCA[11] (p.His333dup) rs562588574
NM_005263.5(GFI1):c.925-40CT[24] rs35896485
NM_005263.5(GFI1):c.925-40CT[26] rs35896485
NM_005271.5(GLUD1):c.1403-11dup rs550609501
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu) rs121909731
NM_005271.5(GLUD1):c.965G>A (p.Arg322His) rs121909737
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs) rs587777699
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu) rs546510242
NM_005373.3(MPL):c.1316_1320del (p.Glu439fs) rs1292577132
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005445.4(SMC3):c.1964G>A (p.Gly655Asp) rs587784425
NM_005445.4(SMC3):c.548-5_548-4dup rs199906378
NM_005445.4(SMC3):c.707G>C (p.Arg236Pro) rs587784429
NM_005515.4(MNX1):c.375CGC[10] (p.Ala134dup) rs548755417
NM_005515.4(MNX1):c.375CGC[11] (p.Ala133_Ala134dup) rs548755417
NM_005515.4(MNX1):c.832C>T (p.Leu278Phe) rs370066878
NM_005515.4(MNX1):c.885A>C (p.Lys295Asn) rs1064794653
NM_005592.4(MUSK):c.2485G>T (p.Val829Leu) rs578430
NM_005629.4(SLC6A8):c.87G>A (p.Gly29=) rs782373793
NM_005850.5(SF3B4):c.1058C>A (p.Pro353His) rs782461594
NM_005857.5(ZMPSTE24):c.8T>C (p.Met3Thr) rs754971777
NM_005859.5(PURA):c.132CGG[6] (p.Gly49dup) rs754074166
NM_005861.4(STUB1):c.832del (p.Glu278fs) rs1555475529
NM_005886.3(KATNB1):c.930G>C (p.Thr310=) rs147460464
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile) rs1555691402
NM_005921.2(MAP3K1):c.458C>T (p.Pro153Leu) rs576080629
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1]) rs797046113
NM_006005.3(WFS1):c.1725C>T (p.Ala575=) rs2230719
NM_006005.3(WFS1):c.2370G>A (p.Ser790=) rs150936382
NM_006005.3(WFS1):c.2563_2565delinsCCG (p.Ser855Pro) rs1560422132
NM_006005.3(WFS1):c.409_424dup (p.Val142fs) rs1362648752
NM_006009.4(TUBA1A):c.1105G>A (p.Ala369Thr) rs797046071
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) rs587784483
NM_006009.4(TUBA1A):c.273A>G (p.Gln91=) rs765483435
NM_006009.4(TUBA1A):c.276T>C (p.Leu92=) rs1065671
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) rs587784489
NM_006009.4(TUBA1A):c.53A>G (p.Asn18Ser) rs1064795213
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006015.6(ARID1A):c.1029_1043del (p.Ala345_Ala349del) rs751352361
NM_006015.6(ARID1A):c.114GGC[6] (p.Ala45dup) rs587779737
NM_006015.6(ARID1A):c.239A>G (p.Asn80Ser) rs1553145891
NM_006015.6(ARID1A):c.249CGG[6] (p.Gly86_Gly87dup) rs1015322780
NM_006015.6(ARID1A):c.250_267dup (p.Gly84_Gly89dup) rs777773061
NM_006015.6(ARID1A):c.264C>T (p.Ala88=) rs765913797
NM_006015.6(ARID1A):c.326C>T (p.Pro109Leu) rs1167372383
NM_006015.6(ARID1A):c.3978GCA[9] (p.Gln1334dup) rs374564889
NM_006015.6(ARID1A):c.483CGC[5] (p.Ala167dup) rs759913677
NM_006015.6(ARID1A):c.5287GAA[4] (p.Glu1767del) rs753766136
NM_006015.6(ARID1A):c.5717G>A (p.Arg1906Gln) rs41303631
NM_006015.6(ARID1A):c.729GGC[4] (p.Ala247dup) rs749970078
NM_006031.6(PCNT):c.2154+7C>T rs376236418
NM_006031.6(PCNT):c.2610-50T>A rs9637173
NM_006031.6(PCNT):c.2628A>G (p.Lys876=) rs758820636
NM_006031.6(PCNT):c.268-5_268-3del rs751683541
NM_006031.6(PCNT):c.428G>A (p.Arg143His) rs58106867
NM_006031.6(PCNT):c.4571C>G (p.Pro1524Arg) rs35513449
NM_006031.6(PCNT):c.467_505del (p.His156_Gln168del) rs587784306
NM_006031.6(PCNT):c.467_505dup (p.His156_Gln168dup) rs587784306
NM_006031.6(PCNT):c.5020G>T (p.Glu1674Ter) rs587784308
NM_006031.6(PCNT):c.5074G>A (p.Val1692Ile) rs113342730
NM_006031.6(PCNT):c.5253C>G (p.His1751Gln) rs114799541
NM_006031.6(PCNT):c.5792G>T (p.Arg1931Leu) rs776640595
NM_006031.6(PCNT):c.5982C>G (p.Val1994=) rs552463011
NM_006031.6(PCNT):c.5994+13dup rs772752236
NM_006031.6(PCNT):c.6150+11G>C rs10222116
NM_006031.6(PCNT):c.640-8T>G rs587784314
NM_006031.6(PCNT):c.6578C>T (p.Pro2193Leu) rs368565898
NM_006031.6(PCNT):c.6922-5_6922-4insTCTGA rs59957960
NM_006031.6(PCNT):c.7842_7843del (p.Cys2614_Glu2615delinsTer) rs2147963975
NM_006031.6(PCNT):c.8889G>A (p.Ser2963=) rs151325202
NM_006031.6(PCNT):c.9393+8C>T rs750108017
NM_006059.4(LAMC3):c.2308C>G (p.Arg770Gly) rs3739510
NM_006059.4(LAMC3):c.3069+8G>T rs563444562
NM_006059.4(LAMC3):c.3250G>C (p.Glu1084Gln) rs146221263
NM_006059.4(LAMC3):c.3379G>A (p.Glu1127Lys) rs140955110
NM_006059.4(LAMC3):c.4146G>C (p.Arg1382Ser) rs147092908
NM_006059.4(LAMC3):c.521_522delinsAG (p.Pro174Gln) rs386738954
NM_006059.4(LAMC3):c.522C>G (p.Pro174=) rs2275136
NM_006059.4(LAMC3):c.855A>G (p.Ala285=) rs2275132
NM_006080.3(SEMA3A):c.1663C>T (p.Arg555Ter) rs747485179
NM_006086.4(TUBB3):c.167-5C>G rs147928399
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser) rs587784505
NM_006086.4(TUBB3):c.728C>T (p.Pro243Leu) rs587784506
NM_006208.3(ENPP1):c.313+9GT[17] rs59956343
NM_006231.4(POLE):c.-6G>C rs534524789
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.2784C>T (p.Ser928=) rs1011427549
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006231.4(POLE):c.579-3T>C rs1593082215
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006306.4(SMC1A):c.1136AAG[2] (p.Glu381del) rs797045991
NM_006306.4(SMC1A):c.1457A>G (p.Asp486Gly) rs587784405
NM_006306.4(SMC1A):c.1877G>A (p.Arg626His) rs587784407
NM_006306.4(SMC1A):c.2078G>A (p.Arg693Gln) rs587784408
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln) rs587784416
NM_006306.4(SMC1A):c.3254A>G (p.Tyr1085Cys) rs587784418
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys) rs587784422
NM_006306.4(SMC1A):c.616-6G>A rs587784424
NM_006420.3(ARFGEF2):c.3177G>T (p.Ser1059=) rs61748373
NM_006420.3(ARFGEF2):c.3758-3del rs797045256
NM_006420.3(ARFGEF2):c.4756-7C>T rs868504867
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser) rs386833977
NM_006493.4(CLN5):c.510_514dup (p.Asp172fs) rs1555274005
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer) rs587780315
NM_006516.4(SLC2A1):c.100A>G (p.Asn34Asp) rs587784390
NM_006516.4(SLC2A1):c.1023C>G (p.Leu341=) rs143588685
NM_006516.4(SLC2A1):c.229A>G (p.Met77Val) rs776583130
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006516.4(SLC2A1):c.679+7G>C rs13306757
NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del) rs387906501
NM_006642.5(SDCCAG8):c.1094G>A (p.Arg365Lys) rs115098969
NM_006642.5(SDCCAG8):c.1094G>C (p.Arg365Thr) rs115098969
NM_006659.4(TUBGCP2):c.1145C>T (p.Ala382Val)
NM_006662.3(SRCAP):c.7993C>T (p.Gln2665Ter) rs587784444
NM_006734.4(HIVEP2):c.1722C>T (p.Asp574=) rs559329860
NM_006767.4(LZTR1):c.791+1G>A rs148031742
NM_006772.3(SYNGAP1):c.198C>T (p.Pro66=) rs73402305
NM_006910.5(RBBP6):c.504A>C (p.Gly168=)
NM_006947.4(SRP72):c.1321-4_1321-3del rs1259551381
NM_006947.4(SRP72):c.1650T>C (p.Asp550=) rs202073540
NM_006947.4(SRP72):c.20G>C (p.Gly7Ala) rs139502866
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro) rs35490401
NM_006982.3(ALX1):c.190C>T (p.Arg64Cys) rs145944049
NM_007055.4(POLR3A):c.1745G>T (p.Arg582Leu) rs34588967
NM_007055.4(POLR3A):c.2011T>C (p.Trp671Arg) rs1446265632
NM_007059.4(KPTN):c.714_731dup (p.Met241_Gln246dup) rs587777148
NM_007078.3(LDB3):c.896+6669TC[11] rs71019410
NM_007078.3(LDB3):c.896+6669TC[13] rs71019410
NM_007118.4(TRIO):c.6611A>G (p.Lys2204Arg) rs141648983
NM_007175.8(ERLIN2):c.299-4_299-3del rs778852699
NM_007175.8(ERLIN2):c.740-5C>G rs191003311
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007194.4(CHEK2):c.474A>C (p.Ala158=) rs745699485
NM_007194.4(CHEK2):c.474A>G (p.Ala158=) rs745699485
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007254.4(PNKP):c.1286_1298+6dup rs760249644
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_007254.4(PNKP):c.1545C>T (p.Tyr515=) rs760131892
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu) rs587784367
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007254.4(PNKP):c.936+13dup rs3739200
NM_007289.4(MME):c.1400dup (p.Arg468fs) rs751149568
NM_007294.4(BRCA1):c.1248A>G (p.Leu416=) rs1057522369
NM_007294.4(BRCA1):c.1703C>T (p.Pro568Leu) rs80356910
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.2481A>C (p.Glu827Asp) rs397508970
NM_007294.4(BRCA1):c.3600G>C (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.4186-10G>A rs80358172
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala) rs80357132
NM_007294.4(BRCA1):c.5198A>G (p.Asp1733Gly) rs80357270
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) rs8176153
NM_007325.5(GRIA3):c.162C>T (p.Ala54=) rs758158942
NM_007327.4(GRIN1):c.2381G>A (p.Arg794Gln) rs781053477
NM_007347.5(AP4E1):c.1694C>A (p.Ala565Glu) rs142762839
NM_012096.3(APPL1):c.1930_1933del (p.Glu643_Arg644insTer) rs757479184
NM_012156.2(EPB41L1):c.531G>T (p.Pro177=) rs139137163
NM_012199.5(AGO1):c.595G>A (p.Gly199Ser) rs2148711383
NM_012210.4(TRIM32):c.196_205del (p.Lys66fs) rs1554732623
NM_012216.4(MID2):c.1074-4del rs758037994
NM_012233.3(RAB3GAP1):c.18+4A>G rs550325115
NM_012309.5(SHANK2):c.4161_4166dup (p.Leu1387_Pro1388dup) rs756656381
NM_012330.4(KAT6B):c.3289GAA[7] (p.Glu1104del) rs71929101
NM_013275.6(ANKRD11):c.6072G>C (p.Pro2024=) rs542077760
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs) rs1555525088
NM_013328.4(PYCR2):c.139-7_139-6del rs146634256
NM_013339.4(ALG6):c.908_910del (p.Cys303del) rs1057517952
NM_014008.5(CCDC22):c.1150C>T (p.Arg384Cys) rs143790434
NM_014008.5(CCDC22):c.747= (p.Gln249=) rs2294020
NM_014009.4(FOXP3):c.1222G>A (p.Val408Met) rs1557115532
NM_014141.6(CNTNAP2):c.1566G>A (p.Gln522=) rs535454043
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) rs138517537
NM_014141.6(CNTNAP2):c.3193C>A (p.Leu1065Ile) rs146225600
NM_014141.6(CNTNAP2):c.3595G>T (p.Ala1199Ser) rs727503878
NM_014141.6(CNTNAP2):c.3716-17TCTT[3] rs142426153
NM_014141.6(CNTNAP2):c.3716-5_3716-4insCTGT rs60451214
NM_014159.7(SETD2):c.4918-78AC[17] rs61571386
NM_014159.7(SETD2):c.6110-27_6110-26del rs10589946
NM_014236.4(GNPAT):c.569-11del rs199905093
NM_014363.6(SACS):c.3309dup (p.Val1104fs) rs2137636629
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu) rs797045938
NM_014444.5(TUBGCP4):c.1066-10C>G rs200550774
NM_014714.4(IFT140):c.836G>C (p.Arg279Pro) rs4786350
NM_014795.4(ZEB2):c.1542G>A (p.Pro514=) rs141674976
NM_014795.4(ZEB2):c.1875C>T (p.Ala625=) rs752759296
NM_014795.4(ZEB2):c.3067+6A>T rs143450927
NM_014795.4(ZEB2):c.702C>T (p.His234=) rs140169964
NM_014795.4(ZEB2):c.9G>A (p.Gln3=) rs149882004
NM_014875.3(KIF14):c.4782G>C (p.Trp1594Cys) rs764577786
NM_014908.4(DOLK):c.2T>C (p.Met1Thr) rs587777137
NM_014915.3(ANKRD26):c.141C>A (p.Leu47=) rs373157833
NM_014915.3(ANKRD26):c.371A>T (p.Gln124Leu) rs200100926
NM_014915.3(ANKRD26):c.710-6T>C
NM_014915.3(ANKRD26):c.937G>T (p.Asp313Tyr) rs61730102
NM_014994.3(MAPKBP1):c.3393G>A (p.Pro1131=)
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs) rs797045067
NM_015107.3(PHF8):c.2790CTC[2] (p.Ser933del) rs782660284
NM_015175.3(NBEAL2):c.4949CAGCTGCAG[2] (p.Ala1656_Ala1658del) rs535036383
NM_015214.3(DDHD2):c.226_227delinsTA (p.Gly76Tyr) rs797045521
NM_015215.4(CAMTA1):c.1350G>A (p.Ser450=) rs12128526
NM_015272.5(RPGRIP1L):c.3295-8del rs113083177
NM_015346.4(ZFYVE26):c.3210C>G (p.Pro1070=) rs7156492
NM_015346.4(ZFYVE26):c.4197C>T (p.Thr1399=) rs35018134
NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr) rs2235967
NM_015346.4(ZFYVE26):c.6384C>A (p.Tyr2128Ter) rs2140192948
NM_015378.4(VPS13D):c.3569G>A (p.Gly1190Asp) rs1557680919
NM_015421.4(TMEM186):c.3+20G>T rs145394389
NM_015421.4(TMEM186):c.3+27G>A rs113804940
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His) rs267607042
NM_015634.4(KIFBP):c.556C>T (p.Arg186Cys) rs200098813
NM_016013.4(NDUFAF1):c.92G>T (p.Arg31Leu) rs3204853
NM_016097.5(IER3IP1):c.170G>A (p.Arg57Gln) rs149009126
NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs) rs797045688
NM_016222.4(DDX41):c.1332C>T (p.Asp444=) rs554494724
NM_016222.4(DDX41):c.138+5G>A rs187714514
NM_016222.4(DDX41):c.232_233insAA (p.Pro78fs) rs1554111683
NM_016222.4(DDX41):c.27+9G>A rs765022870
NM_016239.4(MYO15A):c.9303+1G>T rs876657708
NM_016343.4(CENPF):c.2101A>C (p.Met701Leu) rs3795524
NM_017654.4(SAMD9):c.1800_1801del (p.Glu600fs) rs375515095
NM_017654.4(SAMD9):c.3651dup (p.Asp1218Ter) rs199887936
NM_017668.3(NDE1):c.386+41C>G rs62036933
NM_017668.3(NDE1):c.658C>T (p.Arg220Ter) rs576928842
NM_017668.3(NDE1):c.701G>A (p.Arg234His) rs138255766
NM_017721.5(CC2D1A):c.2073+7G>A rs539992718
NM_017721.5(CC2D1A):c.2342G>C (p.Gly781Ala) rs77389229
NM_017721.5(CC2D1A):c.513+6_513+12del rs541952457
NM_017721.5(CC2D1A):c.531C>T (p.Leu177=) rs372771537
NM_017721.5(CC2D1A):c.696T>G (p.Ser232=) rs534160840
NM_017755.6(NSUN2):c.2022C>T (p.Pro674=) rs797045837
NM_017755.6(NSUN2):c.2279C>A (p.Pro760Gln) rs61744358
NM_017755.6(NSUN2):c.97-10C>T rs199959678
NM_017757.3(ZNF407):c.4507T>C (p.Leu1503=) rs12327359
NM_017763.6(RNF43):c.576G>A (p.Pro192=) rs76384648
NM_017777.4(MKS1):c.1158A>G (p.Glu386=) rs797045705
NM_017777.4(MKS1):c.1408-1dup rs762668200
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.2377-3dup rs752271550
NM_017780.4(CHD7):c.2614-14del rs748282026
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter) rs587783442
NM_017780.4(CHD7):c.4839G>C (p.Leu1613=) rs1164615393
NM_017780.4(CHD7):c.6287A>G (p.His2096Arg) rs587783451
NM_017838.4(NHP2):c.160+10A>T rs376220034
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_018013.4(SOBP):c.1888CCCCCGGGC[3] (p.630PPG[3]) rs746750430
NM_018013.4(SOBP):c.2232GCC[6] (p.Pro751del) rs541688197
NM_018013.4(SOBP):c.2232GCC[8] (p.Pro751dup) rs541688197
NM_018026.4(PACS1):c.110_133dup (p.Gln37_Gln44dup) rs756417166
NM_018026.4(PACS1):c.1375-4G>A rs766187894
NM_018026.4(PACS1):c.460C>A (p.Leu154Ile) rs2134698831
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018026.4(PACS1):c.897+9C>G rs184374266
NM_018026.4(PACS1):c.95CGC[4] (p.Pro34dup) rs1176211628
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018075.5(ANO10):c.1798-12_1798-9del rs545954936
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp) rs3804506
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs) rs199422147
NM_018136.5(ASPM):c.3566C>T (p.Ser1189Phe) rs143805893
NM_018136.5(ASPM):c.3742-3dup rs587783236
NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs) rs587783239
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter) rs1057520873
NM_018136.5(ASPM):c.5422_5425del (p.Leu1808fs) rs1403868262
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs) rs587783263
NM_018136.5(ASPM):c.7160_7161del (p.Ser2387fs) rs587783265
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs) rs587783280
NM_018136.5(ASPM):c.8987+39TG[2] rs200804798
NM_018249.6(CDK5RAP2):c.3134G>C (p.Arg1045Thr) rs3780679
NM_018249.6(CDK5RAP2):c.4207C>T (p.Arg1403Ter) rs754282058
NM_018249.6(CDK5RAP2):c.879+26G>T rs41305509
NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs) rs779151199
NM_018451.5(CENPJ):c.1908C>G (p.Arg636=) rs61743613
NM_018451.5(CENPJ):c.2992-17dup rs35599563
NM_019023.5(PRMT7):c.1951TTC[1] (p.Phe652del) rs562766169
NM_019066.5(MAGEL2):c.939CCCACCTGCACAGCCGATGGC[1] (p.314PPAQPMA[1]) rs528108868
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1521C>T (p.His507=) rs10870188
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=) rs10870182
NM_020066.5(FMN2):c.4065+7A>G rs749567608
NM_020207.7(ERCC6L2):c.2100+13_2100+15del
NM_020207.7(ERCC6L2):c.8C>A (p.Pro3Gln) rs151308487
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=) rs12593
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del) rs387906299
NM_020247.5(COQ8A):c.1805C>G (p.Pro602Arg) rs61995958
NM_020320.5(RARS2):c.-2A>G rs201150141
NM_020320.5(RARS2):c.726A>G (p.Gln242=) rs145499324
NM_020320.5(RARS2):c.888G>C (p.Thr296=) rs145189950
NM_020451.3(SELENON):c.1092+6C>G rs148071754
NM_020451.3(SELENON):c.427GAG[5] (p.Glu146dup) rs141295085
NM_020461.4(TUBGCP6):c.1700_1701inv (p.Leu567Ser)
NM_020461.4(TUBGCP6):c.42C>A (p.Ala14=) rs146878404
NM_020699.4(GATAD2B):c.983C>T (p.Thr328Met) rs1261538447
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020822.3(KCNT1):c.2944-52CTCC[9] rs55843930
NM_020831.6(MRTFA):c.1994_1995insACCCGC (p.665AP[4]) rs779177848
NM_020831.6(MRTFA):c.2004C>G (p.Pro668=) rs373182628
NM_020921.4(NIN):c.447G>A (p.Thr149=) rs547438612
NM_020928.2(ZSWIM6):c.83GCG[7] (p.Gly33dup) rs528020839
NM_020937.4(FANCM):c.4005A>G (p.Lys1335=) rs1888735204
NM_020975.6(RET):c.2523G>T (p.Pro841=) rs56195026
NM_020987.5(ANK3):c.1290C>G (p.Thr430=) rs374761322
NM_020987.5(ANK3):c.2614+6del rs370950407
NM_020987.5(ANK3):c.3045G>T (p.Thr1015=) rs3750800
NM_020987.5(ANK3):c.3105C>G (p.Pro1035=) rs55680239
NM_020987.5(ANK3):c.468C>G (p.Val156=) rs71495633
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val)
NM_021008.4(DEAF1):c.294G>A (p.Val98=) rs1038817783
NM_021008.4(DEAF1):c.56_82del (p.Val19_Ala27del) rs768085739
NM_021008.4(DEAF1):c.72_95del (p.Val25_Ala32del) rs752994574
NM_021072.4(HCN1):c.203GCG[5] (p.Gly73_Gly74del) rs747975797
NM_021120.4(DLG3):c.1405+5_1405+7del rs797045525
NM_021738.3(SVIL):c.3776T>C (p.Met1259Thr)
NM_021784.5(FOXA2):c.828C>G (p.Ala276=) rs371309076
NM_021922.3(FANCE):c.733GGA[1] (p.Gly246del) rs45451605
NM_021956.5(GRIK2):c.724-7del rs2243352
NM_022095.4(ZNF335):c.2564C>T (p.Ala855Val) rs564168844
NM_022095.4(ZNF335):c.3820-7_3820-6del rs150750750
NM_022095.4(ZNF335):c.825C>T (p.Ala275=) rs797046125
NM_022124.6(CDH23):c.572G>A (p.Arg191Gln) rs372588663
NM_022436.3(ABCG5):c.1228A>C (p.Asn410His) rs115590670
NM_022455.5(NSD1):c.4062C>T (p.Gly1354=) rs144562009
NM_022455.5(NSD1):c.4564G>A (p.Asp1522Asn) rs201483724
NM_022455.5(NSD1):c.4564G>T (p.Asp1522Tyr) rs201483724
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr) rs587784127
NM_022455.5(NSD1):c.4987C>T (p.Arg1663Cys) rs587784134
NM_022455.5(NSD1):c.5069C>G (p.Pro1690Arg) rs1554200207
NM_022455.5(NSD1):c.5146+1G>A rs587784139
NM_022455.5(NSD1):c.5303+1G>C rs587784141
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=) rs61749654
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys) rs797045825
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter) rs587784173
NM_022455.5(NSD1):c.6014G>A (p.Arg2005Gln) rs587784174
NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr) rs1554204921
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys) rs398124380
NM_022455.5(NSD1):c.6356A>G (p.Asp2119Gly) rs587784191
NM_022455.5(NSD1):c.6413G>A (p.Cys2138Tyr) rs587784195
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln) rs587784200
NM_022455.5(NSD1):c.6500G>A (p.Cys2167Tyr) rs587784205
NM_022455.5(NSD1):c.6521_6523del (p.Phe2174del) rs587784206
NM_022455.5(NSD1):c.6557A>G (p.His2186Arg) rs587784208
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met) rs1554162016
NM_024101.7(MLPH):c.1745C>T (p.Ala582Val) rs112711398
NM_024101.7(MLPH):c.880+10del rs758805619
NM_024306.5(FA2H):c.762C>T (p.Phe254=) rs797045569
NM_024408.4(NOTCH2):c.15C>G (p.Arg5=) rs4021006
NM_024408.4(NOTCH2):c.17_18del (p.Pro6fs) rs372504208
NM_024411.5(PDYN):c.658_659del (p.Trp220fs) rs748307861
NM_024426.6(WT1):c.1349A>G (p.His450Arg) rs1851851609
NM_024426.6(WT1):c.1354+5G>A rs2132919246
NM_024496.4(IRF2BPL):c.562C>T (p.Arg188Ter) rs1345176461
NM_024577.4(SH3TC2):c.3594A>C (p.Pro1198=) rs6871030
NM_024580.6(EFL1):c.91+6A>G
NM_024596.5(MCPH1):c.1351G>A (p.Glu451Lys) rs202004426
NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn) rs548329168
NM_024596.5(MCPH1):c.2256C>T (p.Arg752=) rs35999761
NM_024596.5(MCPH1):c.2453-1G>C rs587783739
NM_024596.5(MCPH1):c.433C>T (p.Leu145=) rs139607465
NM_024598.4(USB1):c.*317CT[5] rs58782258
NM_024675.4(PALB2):c.212-10del rs766487430
NM_024675.4(PALB2):c.2607C>T (p.Ser869=) rs45542234
NM_024675.4(PALB2):c.3048del (p.Phe1016fs) rs515726104
NM_024675.4(PALB2):c.3307G>A (p.Val1103Met) rs201657283
NM_024675.4(PALB2):c.3362del (p.Gly1121fs) rs515726117
NM_024753.5(TTC21B):c.114C>G (p.Val38=) rs34486024
NM_024753.5(TTC21B):c.3519T>C (p.Thr1173=) rs115504901
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) rs587780332
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn) rs138283222
NM_024757.5(EHMT1):c.35G>C (p.Arg12Thr) rs777999570
NM_024757.5(EHMT1):c.390G>T (p.Pro130=) rs144323841
NM_024757.5(EHMT1):c.432C>T (p.Ala144=) rs139461232
NM_025009.5(CEP135):c.1644_1646del (p.Ala549del) rs776271846
NM_025009.5(CEP135):c.297C>T (p.His99=) rs115408010
NM_025009.5(CEP135):c.369A>G (p.Gln123=) rs147451921
NM_025009.5(CEP135):c.998AAG[2] (p.Glu335del) rs374626758
NM_025074.7(FRAS1):c.7029+9A>C rs188606284
NM_025077.4(TOE1):c.492+5G>A rs200132965
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr) rs78870822
NM_025099.6(CTC1):c.615C>T (p.Tyr205=) rs571035242
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) rs386834148
NM_025114.4(CEP290):c.2268A>G (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.5709+45G>C rs45477793
NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter) rs560987504
NM_025265.4(TSEN2):c.560G>C (p.Arg187Pro) rs146117200
NM_030632.3(ASXL3):c.4706_4710del (p.Lys1568_Leu1569insTer) rs2145429370
NM_030665.4(RAI1):c.1054C>T (p.Arg352Cys) rs907728820
NM_030665.4(RAI1):c.1665C>G (p.Thr555=) rs769515020
NM_030665.4(RAI1):c.1740G>T (p.Pro580=) rs138768616
NM_030665.4(RAI1):c.2931C>A (p.Asn977Lys) rs754379238
NM_030665.4(RAI1):c.3270C>G (p.Ala1090=) rs398124416
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_030665.4(RAI1):c.5517C>T (p.Ala1839=) rs377747563
NM_030665.4(RAI1):c.76C>T (p.Arg26Cys) rs376964045
NM_030665.4(RAI1):c.834GCA[17] (p.Gln288_Gln291dup) rs371983878
NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del) rs371983878
NM_030665.4(RAI1):c.980C>G (p.Ala327Gly) rs1555565043
NM_030773.4(TUBB1):c.230G>A (p.Arg77Gln) rs572988631
NM_030773.4(TUBB1):c.779T>C (p.Phe260Ser) rs1057517996
NM_030928.4(CDT1):c.1377C>T (p.Arg459=) rs3218730
NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del) rs572571832
NM_031407.7(HUWE1):c.12903= (p.Thr4301=) rs477171
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp) rs1057520538
NM_031448.6(C19orf12):c.205C>T (p.Gln69Ter) rs1064797235
NM_031448.6(C19orf12):c.303G>A (p.Trp101Ter) rs1555714808
NM_032043.3(BRIP1):c.1141-9A>G rs1555607258
NM_032043.3(BRIP1):c.2400C>T (p.Tyr800=) rs574552037
NM_032043.3(BRIP1):c.2786_2789del (p.Leu929fs) rs1295703239
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
NM_032119.4(ADGRV1):c.13590C>T (p.Pro4530=) rs41311745
NM_032119.4(ADGRV1):c.5953A>G (p.Asn1985Asp) rs41303352
NM_032119.4(ADGRV1):c.7176C>T (p.Ser2392=) rs111033452
NM_032119.4(ADGRV1):c.7945+27C>A rs10068473
NM_032153.6(ZIC4):c.966G>C (p.Ser322=) rs17509456
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp) rs137976282
NM_032638.5(GATA2):c.1017+572C>T rs1559985787
NM_032638.5(GATA2):c.1186C>T (p.Arg396Trp) rs1576744529
NM_032737.4(LMNB2):c.402C>T (p.Ser134=) rs148213507
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs) rs762292772
NM_058004.4(PI4KA):c.42_53del (p.Gly15_Gly18del) rs551553536
NM_058216.3(RAD51C):c.1128A>G (p.Leu376=) rs545024029
NM_130839.5(UBE3A):c.1024C>T (p.Gln342Ter) rs587784534
NM_130839.5(UBE3A):c.1620C>T (p.Ile540=) rs1057523671
NM_130839.5(UBE3A):c.1742A>G (p.Asn581Ser) rs587784517
NM_130839.5(UBE3A):c.1802CTT[1] (p.Ser602del) rs587781234
NM_130839.5(UBE3A):c.2376T>C (p.His792=) rs2152515457
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_130839.5(UBE3A):c.2609G>A (p.Gly870Asp) rs587784528
NM_130839.5(UBE3A):c.377C>A (p.Thr126Lys) rs587781241
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr) rs147145506
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.3855+5G>A rs80358378
NM_133433.4(NIPBL):c.4321-15A>G rs587783946
NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg) rs587783948
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.4(NIPBL):c.5483G>A (p.Arg1828Gln) rs587783978
NM_133433.4(NIPBL):c.5709+1G>A rs587783979
NM_133433.4(NIPBL):c.6108+7A>G rs587783995
NM_133433.4(NIPBL):c.6322G>A (p.Ala2108Thr) rs587784006
NM_133433.4(NIPBL):c.64+5G>A rs587784011
NM_133433.4(NIPBL):c.65-5A>G rs587784012
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His) rs587784020
NM_133433.4(NIPBL):c.6647ATA[2] (p.Asn2218del) rs587784022
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile) rs587784023
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His) rs587784024
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro) rs587784030
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_133642.5(LARGE1):c.1452-28C>T rs76647066
NM_138927.4(SON):c.4090_4113del (p.Ala1364_Ser1371del) rs779275354
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup) rs398124508
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup) rs387906492
NM_139058.3(ARX):c.306GGC[8] (p.Ala114_Ala115del) rs387906492
NM_139058.3(ARX):c.441A>G (p.Ala147=) rs797045301
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del) rs398124510
NM_139058.3(ARX):c.651G>T (p.Ala217=) rs587783204
NM_144773.4(PROKR2):c.58del (p.His20fs) rs587777834
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=) rs34578730
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152384.3(BBS5):c.966dup (p.Ala323fs) rs1553529427
NM_152564.5(VPS13B):c.1293T>G (p.Thr431=) rs77759532
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs) rs1357171752
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152703.5(SAMD9L):c.1524A>G (p.Thr508=) rs1248188387
NM_152703.5(SAMD9L):c.3353A>G (p.Tyr1118Cys) rs1562789302
NM_152703.5(SAMD9L):c.4224dup (p.Gln1409fs) rs759143613
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_152783.5(D2HGDH):c.1272G>A (p.Pro424=) rs375565047
NM_152783.5(D2HGDH):c.293-18A>G rs4073889
NM_153240.5(NPHP3):c.1525-5del rs762115717
NM_153252.5(BRWD3):c.1002A>C (p.Thr334=) rs757676344
NM_153704.6(TMEM67):c.224-4_224-3del rs587779735
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1622G>C (p.Arg541Pro) rs61444459
NM_172107.4(KCNQ2):c.1503C>G (p.Ala501=) rs1801545
NM_172107.4(KCNQ2):c.388-9C>G rs371784719
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile) rs794727741
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_173560.4(RFX6):c.1782C>T (p.His594=) rs4946206
NM_173630.4(RTTN):c.376T>A (p.Ser126Thr) rs3911730
NM_173630.4(RTTN):c.5186-4A>G rs28599773
NM_173660.5(DOK7):c.967C>T (p.Arg323Cys) rs150728781
NM_173689.7(CRB2):c.1829G>T (p.Arg610Leu) rs144365725
NM_173689.7(CRB2):c.3699CCT[7] (p.Leu1239dup) rs767432277
NM_175875.5(SIX5):c.1943C>T (p.Pro648Leu) rs140816771
NM_175914.5(HNF4A):c.224+1G>A rs1600707958
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln) rs1085307913
NM_175914.5(HNF4A):c.869G>A (p.Arg290His) rs1191912908
NM_177438.3(DICER1):c.4806C>T (p.Ala1602=) rs1890302137
NM_178012.5(TUBB2B):c.533C>T (p.Thr178Met) rs1057520391
NM_178012.5(TUBB2B):c.564G>T (p.Ser188=) rs2259136
NM_181303.2(NLGN3):c.2331C>T (p.Ala777=) rs759656254
NM_181332.3(NLGN4X):c.115A>G (p.Ile39Val) rs201534650
NM_181332.3(NLGN4X):c.1779C>G (p.Leu593=) rs3747334
NM_182914.3(SYNE2):c.2070A>G (p.Leu690=) rs79037871
NM_182961.4(SYNE1):c.16155C>G (p.Tyr5385Ter)
NM_182961.4(SYNE1):c.24225A>G (p.Ala8075=) rs910415
NM_182961.4(SYNE1):c.26204G>A (p.Arg8735Gln) rs2295192
NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=) rs6913579
NM_194318.4(B3GLCT):c.1140C>A (p.Tyr380Ter) rs199908878
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.2329G>A (p.Val777Met) rs1554040129
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr) rs1748613571
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu) rs387907251
NM_198525.3(KIF7):c.195G>C (p.Ala65=) rs8179066
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln) rs142032413
NM_198576.4(AGRN):c.3264G>C (p.Leu1088Phe) rs150132566
NM_198904.4(GABRG2):c.1334G>T (p.Arg445Leu) rs587780341
NM_201384.3(PLEC):c.10612T>C (p.Leu3538=) rs6992333
NM_201384.3(PLEC):c.2178+9C>G rs114256617
NM_201384.3(PLEC):c.378T>C (p.Ala126=) rs6993938
NM_201384.3(PLEC):c.378T>G (p.Ala126=) rs6993938
NM_201525.4(ADGRG1):c.1442T>C (p.Leu481Pro) rs587783653
NM_201525.4(ADGRG1):c.1665-41C>T rs17240890
NM_201525.4(ADGRG1):c.1952G>A (p.Trp651Ter) rs587783657
NM_201525.4(ADGRG1):c.843C>G (p.Ser281Arg) rs1801257
NM_203447.4(DOCK8):c.2440+13_2440+22del rs769837178
NM_207346.3(TSEN54):c.370-9C>T rs797046056
NM_213599.3(ANO5):c.2646C>G (p.Asn882Lys) rs34969327
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe) rs7481951
NR_001566.1(TERC):n.-245G>A rs116780570
UGT1A1*28 rs3064744

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