ClinVar Miner

Variants from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen with conflicting interpretations

Location: Netherlands  Primary collection method: clinical testing
Minimum review status of the submission from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen: Collection method of the submission from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
117 4375 9 3293 1111 38 200 4037

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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective other
pathogenic 9 282 53 3 3 1 10 1 6
likely pathogenic 97 0 44 4 0 0 1 0 1
uncertain significance 19 34 0 310 53 0 0 0 0
likely benign 8 19 655 0 1973 0 0 0 1
benign 19 11 134 941 0 2 8 2 6

Submitter to submitter summary #

Total submitters: 210
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 3445 0 1128 183 0 45 1356
Clinical Genetics, Academic Medical Center 0 1430 0 1004 0 0 0 1004
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 916 0 620 116 0 17 753
Mayo Clinic Laboratories, Mayo Clinic 0 2050 0 564 85 0 15 664
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 891 0 592 58 0 8 658
Eurofins Ntd Llc (ga) 0 1238 0 344 231 6 12 593
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1130 0 475 89 0 8 572
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 2516 0 553 0 0 0 553
PreventionGenetics, part of Exact Sciences 0 2236 0 409 123 0 14 546
CeGaT Center for Human Genetics Tuebingen 0 1368 0 344 160 0 24 528
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 3304 0 522 3 0 2 527
Genetic Services Laboratory, University of Chicago 0 472 0 393 81 1 2 477
Labcorp Genetics (formerly Invitae), Labcorp 0 1791 1 336 117 2 17 473
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1721 0 465 0 0 0 465
Athena Diagnostics 0 546 0 410 40 0 1 451
Ambry Genetics 0 1053 0 335 88 0 23 445
Breakthrough Genomics, Breakthrough Genomics 0 2169 0 350 20 0 0 370
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 576 0 290 35 0 6 331
Illumina Laboratory Services, Illumina 0 791 0 136 91 0 2 229
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 764 0 204 0 0 0 204
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 168 0 106 35 0 0 141
Quest Diagnostics Nichols Institute San Juan Capistrano 0 260 0 108 27 0 4 139
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 665 0 99 0 0 0 99
Revvity Omics, Revvity 0 305 0 25 48 0 10 83
Department of Pathology and Laboratory Medicine, Sinai Health System 0 90 0 15 50 0 12 77
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 230 0 41 23 0 3 67
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 177 0 52 12 0 2 66
Mendelics 0 111 0 45 16 0 0 61
OMIM 0 81 8 4 10 11 17 50
Counsyl 0 110 0 46 3 0 0 49
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 79 0 19 23 0 3 45
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 108 0 37 4 0 3 44
Fulgent Genetics, Fulgent Genetics 0 126 0 33 8 0 0 41
Natera, Inc. 0 183 0 35 6 0 0 41
Genome-Nilou Lab 0 660 0 33 2 0 0 35
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 32 0 7 26 0 2 35
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 76 0 19 9 0 1 29
Breast Cancer Information Core (BIC) (BRCA2) 0 75 0 0 23 0 5 28
Dasa 0 154 0 23 3 0 2 28
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino 0 6 0 4 2 0 17 23
Breast Cancer Information Core (BIC) (BRCA1) 0 65 0 0 18 0 3 21
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 24 0 17 4 0 0 21
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 33 0 14 3 0 1 18
All of Us Research Program, National Institutes of Health 0 55 0 7 7 0 1 15
AiLife Diagnostics, AiLife Diagnostics 0 44 0 10 0 0 4 14
Myriad Genetics, Inc. 0 49 0 13 1 0 0 14
Pathway Genomics 0 16 0 13 1 0 0 14
LDLR-LOVD, British Heart Foundation 0 11 0 9 1 0 3 13
ClinPGx 0 0 0 0 0 12 0 12
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 121 0 12 0 0 0 12
Color Diagnostics, LLC DBA Color Health 0 40 0 8 4 0 0 12
Robarts Research Institute, Western University 0 3 0 12 0 0 0 12
Blueprint Genetics 0 39 0 6 3 0 2 11
Clinical Genetics Laboratory, Skane University Hospital Lund 0 106 0 8 1 0 2 11
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 75 0 8 0 0 3 11
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 111 0 11 0 0 0 11
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 33 0 6 4 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 0 70 0 4 5 0 1 10
Sharing Clinical Reports Project (SCRP) 0 134 0 7 2 0 1 10
Baylor Genetics 0 82 0 4 3 0 2 9
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 6 0 7 1 0 1 9
Centre of Medical Genetics, University Hospital Muenster 0 27 0 6 2 0 1 9
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 9 0 0 0 9
Clinical Genetics and Genomics, Karolinska University Hospital 0 52 0 5 0 0 3 8
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 30 0 5 0 0 3 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 17 0 4 3 0 1 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 11 0 1 6 0 0 7
RettBASE 0 2 0 7 0 0 0 7
CSER _CC_NCGL, University of Washington 0 5 0 0 5 0 1 6
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 0 7 0 4 0 0 2 6
Dubai Health Genomic Medicine Center, Dubai Health 0 14 0 4 2 0 0 6
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 185 0 6 0 0 0 6
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 6 0 1 2 0 3 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 14 0 1 4 0 1 6
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 20 0 4 0 0 2 6
Variantyx, Inc. 0 44 0 6 0 0 0 6
3billion 0 32 0 5 0 0 0 5
BRCAlab, Lund University 0 84 0 5 0 0 0 5
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 16 0 5 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 26 0 3 1 0 1 5
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 8 0 2 2 0 1 5
Department of Medical Genetics, University Hospital of North Norway 0 0 0 4 1 0 0 5
Fundacion Hipercolesterolemia Familiar 0 11 0 2 3 0 0 5
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 3 0 5 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 33 0 4 0 0 1 5
Michigan Medical Genetics Laboratories, University of Michigan 0 83 0 5 0 0 0 5
NHS Central & South Genomic Laboratory Hub 0 20 0 4 1 0 0 5
Cardiovascular Biomarker Research Laboratory, Mayo Clinic 0 1 0 3 1 0 0 4
GeneKor MSA 0 3 0 4 0 0 0 4
GeneReviews 0 48 0 0 0 0 4 4
Leiden Open Variation Database 0 12 0 4 0 0 0 4
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 4 0 3 0 0 1 4
NIHR Bioresource Rare Diseases, University of Cambridge 0 3 0 3 0 0 1 4
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 0 0 0 3 1 0 0 4
SIB Swiss Institute of Bioinformatics 0 12 0 3 1 0 0 4
Bruce Budowle Laboratory, University of North Texas Health Science Center 0 0 0 0 0 3 0 3
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 2 0 0 3 0 0 3
Diagnostic Laboratory, Strasbourg University Hospital 0 0 0 2 1 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 6 0 3 0 0 0 3
GENinCode PLC 0 10 0 3 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 22 0 2 1 0 0 3
Genomics England Pilot Project, Genomics England 0 5 0 3 0 0 0 3
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 0 0 3 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 13 0 3 0 0 0 3
Institute for Integrative and Experimental Genomics, University of Luebeck 0 0 0 3 0 0 0 3
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 5 0 3 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 0 6 0 2 0 0 1 3
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 10 0 3 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 0 1 0 2 3
MGZ Medical Genetics Center 0 29 0 2 0 0 1 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 43 0 2 0 0 1 3
Sema4, Sema4 0 0 0 3 0 0 0 3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 14 0 0 2 0 1 3
deCODE genetics, Amgen 0 2 0 3 0 0 0 3
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 5 0 2 0 0 0 2
CZECANCA consortium 0 5 0 1 0 0 1 2
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 2 0 2 0 0 0 2
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 0 0 0 2 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 30 0 2 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 0 1 0 1 2
Eye Genetics Research Group, Children's Medical Research Institute 0 0 0 0 2 0 0 2
Genomenon, Inc, Genomenon, Inc 0 4 0 1 1 0 0 2
Gharavi Laboratory, Columbia University 0 4 0 1 1 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 36 0 2 0 0 0 2
Iberoamerican FH Network 0 6 0 1 1 0 0 2
Inherited Neuropathy Consortium 0 1 0 0 2 0 0 2
Institute of Human Genetics, Heidelberg University 0 0 0 2 0 0 0 2
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 4 0 2 0 0 0 2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 2 0 1 0 0 1 2
Molecular Genetics, Royal Melbourne Hospital 0 13 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 18 0 2 0 0 0 2
New York Genome Center 0 10 0 1 1 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 3 0 1 0 0 1 2
Phosphorus, Inc. 0 11 0 1 0 0 1 2
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 9 0 1 0 0 1 2
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 1 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 34 0 1 0 0 1 2
Yale Center for Mendelian Genomics, Yale University 0 0 0 2 0 0 0 2
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 6 0 0 0 0 1 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 0 0 1 0 0 1
Beijing Key Laboratory of Neuropsychopharmacology, State Key Laboratory of Toxicology and Medical Countermeasures, Beijing Institute of Pharmacology and Toxicology 0 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 4 0 1 0 0 0 1
Biology Molecular and Stem Cell Facilities Laboratory, National Cardiovascular Center, Harapan Kita Hospital 0 0 0 0 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 6 0 1 0 0 0 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 0 0 1 0 0 0 1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 8 0 1 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 3 0 1 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 6 0 0 0 0 1 1
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University 0 0 0 1 0 0 0 1
Center of Excellence in Clinical Pharmacokinetics and Pharmacogenomics, Faculty of Medicine, Chulalongkorn University 0 0 0 0 0 1 0 1
Centro Dermatológico Federico Lleras Acosta, Hospital Universitario Centro Dermatológico Federico Lleras Acosta 0 0 0 0 0 1 0 1
Claritas Genomics 0 7 0 1 0 0 0 1
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen 0 1 0 1 0 0 0 1
ClinGen PAH Variant Curation Expert Panel 0 6 0 1 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 0 0 1 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 0 0 1 0 0 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 4 0 0 1 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 2 0 0 1 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 14 0 1 0 0 0 1
Department of Endocrinology, The Fourth Affiliated Hospital of Guangzhou Medical University 0 0 0 0 0 0 1 1
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics, Hospital Universitario Hospital La Paz 0 0 0 0 1 0 0 1
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 0 1
Department of Human Genetics, Hannover Medical School 0 11 0 1 0 0 0 1
Department of Medical Oncology, IRCCS Ospedale Policlinico San Martino 0 0 0 0 0 1 0 1
Department of Medical and Surgical Sciences, University of Bologna 0 2 0 1 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 0 0 1 0 0 0 1
Department of Neurology, Children’s Hospital of Chongqing Medical University 0 0 0 1 0 0 0 1
Department of Pathology and Molecular Medicine, Queen's University 0 1 0 1 0 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 0 0 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 0 1 0 0 0 1
Dipartimento Di Medicina Di Precisione, Università Degli Studi Della Campania Luigi Vanvitelli 0 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 8 0 0 1 0 0 1
Division of Medical Genetics, University of Washington 0 2 0 1 0 0 0 1
Endocrine oncology group, Uppsala University 0 0 0 1 0 0 0 1
Faculty of Health Sciences, Beirut Arab University 0 0 0 0 0 0 1 1
Foundation Medicine, Inc. 0 0 0 0 1 0 0 1
GenePathDx, GenePath diagnostics 0 0 0 1 0 0 0 1
Genetic Testing Lab, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences 0 0 0 0 0 1 0 1
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 9 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 7 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 5 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 15 0 1 0 0 0 1
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 0 1 0 0 1 0 0 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 0 0 1 0 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 1 0 0 1
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 1 0 1 0 0 0 1
Institute of Clinical Molecular Biology, Kiel University 0 0 0 0 0 0 1 1
Institute of Immunology and Genetics Kaiserslautern 0 11 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 0 1 0 0 0 1
Institute of Reproductive Genetics, University of Münster 0 2 0 0 0 0 1 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 2 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 8 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 5 0 0 0 0 1 1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 1 0 1 0 0 0 1
Molecular Endocrinology Laboratory, Christian Medical College 0 2 0 0 1 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 4 0 0 0 0 1 1
National Institute of Mental Health and Neurosciences 0 0 0 0 0 0 1 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 5 0 1 0 0 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 1 0 0 0 1
O&I group, Department of Genetics, University Medical Center of Groningen 0 1 0 0 0 0 1 1
OLLIN Analises Genomicas, OLLIN 0 7 0 1 0 0 0 1
Pars Genome Lab 0 11 0 0 1 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 1 0 0 0 1
Solve-RD Consortium 0 0 0 1 0 0 0 1
Suma Genomics 0 0 0 1 0 0 0 1
TilsonLab, Columbia University 0 0 0 0 0 0 1 1
True Health Diagnostics 0 2 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 0 0 0 1 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 197 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 4037
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.373-10= rs7252610 0.99999
NM_000065.5(C6):c.1881C>T (p.Asp627=) rs6866352 0.99979
NM_000054.7(AVPR2):c.26-6T>G rs56689668 0.99968
NM_000719.7(CACNA1C):c.5445-511= rs10774054 0.99960
NM_002775.5(HTRA1):c.1274+8G>A rs2672586 0.99939
NM_004415.4(DSP):c.741= (p.Ala247=) rs2806234 0.99917
NM_001042413.2(GLIS3):c.1270T>C (p.Ser424Pro) rs806052 0.99897
NM_198241.3(EIF4G1):c.481A>G (p.Thr161Ala) rs13319149 0.99798
NM_173076.3(ABCA12):c.2329T>A (p.Ser777Thr) rs7560008 0.99785
NM_004525.3(LRP2):c.63G>C (p.Ala21=) rs1559014 0.99771
NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala) rs1552311 0.99751
NM_145649.5(GCNT2):c.926-34546C>G rs539351 0.99583
NM_001267550.2(TTN):c.67246G>C (p.Ala22416Pro) rs4145333 0.99572
NM_001082971.2(DDC):c.49A>G (p.Met17Val) rs6264 0.99435
NM_001374385.1(ATP8B1):c.696T>C (p.Asp232=) rs319438 0.99433
NM_000111.3(SLC26A3):c.1953T>C (p.Leu651=) rs41669 0.99393
NM_001289104.2(PRKCSH):c.850-14T>C rs186375 0.99255
NM_001277115.2(DNAH11):c.1956C>T (p.Phe652=) rs6963535 0.99232
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val) rs2147377 0.99149
NM_006790.3(MYOT):c.220= (p.Gln74=) rs6890689 0.98645
NM_000083.3(CLCN1):c.352G>T (p.Gly118Trp) rs10282312 0.98349
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=) rs1432794 0.98003
NM_032119.4(ADGRV1):c.16279G>A (p.Val5427Met) rs2438378 0.97324
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg) rs268674 0.95976
NM_024753.5(TTC21B):c.826A>G (p.Thr276Ala) rs7592429 0.95419
NM_007327.4(GRIN1):c.1467+8G>A rs10747050 0.94915
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val) rs3027238 0.94614
NM_032119.4(ADGRV1):c.16031A>G (p.Glu5344Gly) rs2438374 0.93887
NM_015346.4(ZFYVE26):c.5672A>G (p.Asn1891Ser) rs3742883 0.93795
NM_001126121.2(SLC25A19):c.339T>C (p.Tyr113=) rs7213318 0.93495
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_000322.5(PRPH2):c.929G>A (p.Arg310Lys) rs425876 0.92861
NM_000130.5(F5):c.5419+12A>G rs6009 0.92617
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln) rs1801726 0.92120
NM_001003841.3(SLC6A19):c.990A>G (p.Thr330=) rs4975629 0.91839
NM_025114.4(CEP290):c.2268A>G (p.Ser756=) rs2468255 0.91372
NM_032119.4(ADGRV1):c.18625-7T>C rs7726023 0.91136
NM_000369.5(TSHR):c.2181G>C (p.Glu727Asp) rs1991517 0.90865
NM_198525.3(KIF7):c.195G>C (p.Ala65=) rs8179066 0.90462
NM_000335.5(SCN5A):c.3183A>G (p.Glu1061=) rs7430407 0.90302
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala) rs8037349 0.90195
NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu) rs505151 0.89865
NM_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776 0.88846
NM_001184.4(ATR):c.7875G>A (p.Gln2625=) rs1802904 0.88595
NM_001814.6(CTSC):c.458T>C (p.Ile153Thr) rs217086 0.87607
NM_018344.6(SLC29A3):c.976A>G (p.Ile326Val) rs2487068 0.87306
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
NM_001849.4(COL6A2):c.1671+10A>G rs915786 0.85505
NM_198525.3(KIF7):c.2658A>C (p.Ala886=) rs3803531 0.85312
NM_030667.3(PTPRO):c.1106-10T>A rs4764199 0.84939
NM_022455.5(NSD1):c.6829T>C (p.Leu2277=) rs28580074 0.84910
NM_000552.5(VWF):c.7239T>C (p.Thr2413=) rs216867 0.84456
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_078470.6(COX15):c.*1126T>C rs2231687 0.83974
NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile) rs562556 0.83129
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829 0.81114
NM_000335.5(SCN5A):c.87A>G (p.Ala29=) rs6599230 0.80621
NM_004360.5(CDH1):c.48+6C>T rs3743674 0.80359
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_004525.3(LRP2):c.12280A>G (p.Lys4094Glu) rs2075252 0.79497
NM_201525.4(ADGRG1):c.996T>C (p.Thr332=) rs1376041 0.79034
NM_020975.6(RET):c.135A>G (p.Ala45=) rs1800858 0.78517
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu) rs390659 0.78498
NM_020975.6(RET):c.2307G>T (p.Leu769=) rs1800861 0.78487
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_000322.5(PRPH2):c.1013A>G (p.Asp338Gly) rs434102 0.77333
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn) rs1042034 0.76948
NM_004836.7(EIF2AK3):c.439-170A>G rs7571971 0.76936
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys) rs2366928 0.76852
NM_004415.4(DSP):c.2091A>G (p.Gly697=) rs2076304 0.76849
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_032119.4(ADGRV1):c.2367+8C>T rs2366773 0.76168
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_001994.3(F13B):c.344G>A (p.Arg115His) rs6003 0.75658
NM_000379.4(XDH):c.3276+12A>G rs1366813 0.75380
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe) rs4630153 0.75355
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe) rs2366777 0.74245
NM_032119.4(ADGRV1):c.7751A>G (p.Asn2584Ser) rs1878878 0.74010
NM_004168.4(SDHA):c.891T>C (p.Pro297=) rs1126417 0.74006
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_014336.5(AIPL1):c.651A>G (p.Pro217=) rs2292546 0.73525
NM_138694.4(PKHD1):c.8798-19A>C rs1326605 0.73187
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) rs12623957 0.73040
NM_000552.5(VWF):c.4641T>C (p.Thr1547=) rs216310 0.71518
NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala) rs216311 0.71493
NM_000069.3(CACNA1S):c.1828-5T>C rs1998721 0.71016
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) rs5215 0.70936
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) rs1046316 0.70506
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596 0.69760
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355 0.69367
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=) rs9646771 0.69145
NM_001378615.1(CC2D2A):c.3183-8T>C rs13121363 0.69106
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr) rs1494558 0.68368
NM_006005.3(WFS1):c.684C>G (p.Arg228=) rs1801213 0.68223
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=) rs11080572 0.68221
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68136
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_002156.5(HSPD1):c.273A>G (p.Lys91=) rs8539 0.67024
NM_004560.4(ROR2):c.733A>G (p.Thr245Ala) rs10820900 0.66416
NM_000505.4(F12):c.-4T>C rs1801020 0.66266
NM_201384.3(PLEC):c.2457+6C>T rs11780911 0.66214
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65654
NM_000240.4(MAOA):c.1410T>C (p.Asp470=) rs1137070 0.65298
NM_001018005.2(TPM1):c.453C>A (p.Ala151=) rs1071646 0.65141
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) rs4673 0.64973
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_207346.3(TSEN54):c.285+32C>A rs7218675 0.64612
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=) rs914428 0.64398
NM_000159.4(GCDH):c.*165A>G rs8012 0.64188
NM_006005.3(WFS1):c.461-9A>G rs10010131 0.64017
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_001365536.1(SCN9A):c.174G>A (p.Gln58=) rs6432901 0.63691
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524 0.63279
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=) rs4489420 0.62688
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=) rs2256135 0.62436
NM_001042413.2(GLIS3):c.1367C>A (p.Pro456Gln) rs6415788 0.62075
NM_000352.6(ABCC8):c.2820+17A>G rs2106865 0.62022
NM_198578.4(LRRK2):c.7190T>C (p.Met2397Thr) rs3761863 0.61824
NM_000243.3(MEFV):c.942C>T (p.Arg314=) rs224213 0.61804
NM_005055.5(RAPSN):c.456T>C (p.Tyr152=) rs7111873 0.61686
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=) rs303815 0.61642
NM_004525.3(LRP2):c.12628A>C (p.Ile4210Leu) rs4667591 0.61608
NM_005055.5(RAPSN):c.1143T>C (p.Pro381=) rs7126210 0.61595
NM_014271.4(IL1RAPL1):c.-19G>A rs6526806 0.61514
NM_004525.3(LRP2):c.2025C>T (p.Val675=) rs830994 0.61350
NM_000540.3(RYR1):c.594A>G (p.Leu198=) rs2229139 0.60966
NM_014694.4(ADAMTSL2):c.2313A>G (p.Val771=) rs1064975 0.60212
NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu) rs1800470 0.60129
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637 0.60091
NM_004525.3(LRP2):c.13113C>T (p.Ile4371=) rs990626 0.59977
NM_000322.5(PRPH2):c.318T>C (p.Val106=) rs7764439 0.59432
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=) rs901854 0.59379
NM_181882.3(PRX):c.2645T>C (p.Val882Ala) rs268671 0.59048
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) rs1046314 0.58808
NM_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206 0.57629
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691 0.57506
NM_181882.3(PRX):c.2655T>C (p.Pro885=) rs268672 0.56968
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_030665.4(RAI1):c.1992G>A (p.Pro664=) rs8067439 0.56541
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_004525.3(LRP2):c.2460A>G (p.Thr820=) rs2241190 0.54926
NM_015559.3(SETBP1):c.540+7405G>A rs663651 0.54347
NM_002529.4(NTRK1):c.1887C>T (p.Ala629=) rs6337 0.53946
NM_002769.5(PRSS1):c.738T>C (p.Asn246=) rs6667 0.53816
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_004525.3(LRP2):c.3069A>G (p.Thr1023=) rs831043 0.53755
NM_003619.4(PRSS12):c.1281A>G (p.Gln427=) rs2292597 0.53714
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=) rs9672286 0.53592
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala) rs214976 0.52553
NM_003331.5(TYK2):c.1669+7T>C rs280519 0.52527
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg) rs12900805 0.52523
NM_000587.4(C7):c.1166G>C (p.Ser389Thr) rs1063499 0.52230
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile) rs3803530 0.52052
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267 0.51379
NM_000257.4(MYH7):c.189C>T (p.Thr63=) rs2069540 0.51373
NM_000552.5(VWF):c.1451A>G (p.His484Arg) rs1800378 0.51348
NM_001415.4(EIF2S3):c.99C>T (p.His33=) rs36018672 0.50815
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601 0.50550
NM_006073.4(TRDN):c.383C>G (p.Thr128Ser) rs9490809 0.50546
NM_182961.4(SYNE1):c.1047+4T>A rs9397106 0.50379
NM_000217.3(KCNA1):c.804G>C (p.Thr268=) rs2227910 0.50318
NM_000843.4(GRM6):c.1227C>T (p.Tyr409=) rs2645339 0.49941
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=) rs1129768 0.49865
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=) rs7598901 0.49457
NM_000383.4(AIRE):c.1578T>C (p.Asp526=) rs1133779 0.49286
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49249
NM_000489.6(ATRX):c.2785= (p.Glu929=) rs3088074 0.49116
NM_001303.4(COX10):c.476G>A (p.Arg159Gln) rs2072279 0.48875
NM_001605.3(AARS1):c.903C>T (p.His301=) rs2070203 0.48623
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_000448.3(RAG1):c.746A>G (p.His249Arg) rs3740955 0.48330
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099 0.48281
NM_017617.5(NOTCH1):c.1555+10A>G rs11145767 0.48034
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606 0.47852
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099 0.47531
NM_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.47275
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030 0.47208
NM_000217.3(KCNA1):c.684T>C (p.Cys228=) rs1048500 0.47043
NM_000352.6(ABCC8):c.579+14C>T rs2301703 0.46493
NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe) rs1801195 0.46398
NM_001297.5(CNGB1):c.1122-15C>T rs2303778 0.46316
NM_000553.6(WRN):c.3138+7G>A rs2737335 0.46167
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138 0.45965
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=) rs3747562 0.45408
NM_004525.3(LRP2):c.10503G>A (p.Gln3501=) rs2229265 0.45057
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44938
NM_000492.4(CFTR):c.2562T>G (p.Thr854=) rs1042077 0.44737
NM_000553.6(WRN):c.2361G>T (p.Leu787=) rs1800392 0.44644
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44635
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg) rs2244492 0.44551
NM_000312.4(PROC):c.-50A>T rs1799810 0.44475
NM_000754.4(COMT):c.186C>T (p.His62=) rs4633 0.44464
NM_000335.5(SCN5A):c.5454T>C (p.Asp1818=) rs1805126 0.44288
NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857 0.44260
NM_001202.6(BMP4):c.455T>C (p.Val152Ala) rs17563 0.43916
NM_000754.4(COMT):c.472G>A (p.Val158Met) rs4680 0.43847
NM_030665.4(RAI1):c.269G>C (p.Gly90Ala) rs3803763 0.43727
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=) rs10521 0.43502
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_017617.5(NOTCH1):c.2265T>C (p.Asn755=) rs2229971 0.42989
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) rs1131695 0.42930
NM_014000.3(VCL):c.2388G>A (p.Pro796=) rs767809 0.42862
NM_000103.4(CYP19A1):c.*19C>T rs10046 0.42803
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_030665.4(RAI1):c.5601T>C (p.Ile1867=) rs3818717 0.42485
NM_004525.3(LRP2):c.3054C>A (p.Thr1018=) rs2075249 0.42392
NM_004260.4(RECQL4):c.3236+13C>T rs4244610 0.42104
NM_000834.5(GRIN2B):c.366C>G (p.Pro122=) rs7301328 0.41972
NM_000243.3(MEFV):c.1764G>A (p.Pro588=) rs1231122 0.41230
NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser) rs11592462 0.40879
NM_001002294.3(FMO3):c.472G>A (p.Glu158Lys) rs2266782 0.40810
NM_000553.6(WRN):c.3138+6C>T rs3024239 0.40457
NM_000384.3(APOB):c.1853C>T (p.Ala618Val) rs679899 0.40054
NM_000203.5(IDUA):c.60G>A (p.Ala20=) rs10902762 0.40016
NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=) rs767455 0.39963
NM_001371279.1(REEP1):c.285G>A (p.Thr95=) rs2276625 0.39866
NM_133642.5(LARGE1):c.435C>T (p.Ala145=) rs86487 0.39804
NM_000083.3(CLCN1):c.2180C>T (p.Pro727Leu) rs13438232 0.39795
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162 0.39681
NM_000383.4(AIRE):c.1197T>C (p.Ala399=) rs1800521 0.39210
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_025074.7(FRAS1):c.3151+14_3151+15dup rs398092530 0.38519
NM_021956.5(GRIK2):c.2424G>A (p.Glu808=) rs2227283 0.38493
NM_004525.3(LRP2):c.4875T>C (p.Cys1625=) rs2229267 0.38438
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) rs13402180 0.38234
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) rs13414203 0.38227
NM_001065.4(TNFRSF1A):c.625+10A>G rs1800693 0.38055
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=) rs11675767 0.38033
NM_000384.3(APOB):c.7545C>T (p.Thr2515=) rs693 0.38001
NM_000439.5(PCSK1):c.1650T>C (p.Asn550=) rs6233 0.38001
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser) rs9493627 0.37885
NM_001077415.3(CRELD1):c.1049-393C>T rs3774207 0.37804
NM_000527.5(LDLR):c.1959T>C (p.Val653=) rs5925 0.37645
NM_030665.4(RAI1):c.493C>A (p.Pro165Thr) rs11649804 0.37583
NM_000552.5(VWF):c.5844C>T (p.Cys1948=) rs216902 0.37406
NM_020247.5(COQ8A):c.1573-20C>G rs2297416 0.37163
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala) rs2252755 0.37011
NM_201525.4(ADGRG1):c.1168-20C>A rs2305309 0.36777
G6PD:c.1455-13T>C rs2071429 0.36538
NM_000410.4(HFE):c.340+4T>C rs2071303 0.36484
NM_003244.4(TGIF1):c.16+1720del rs11571510 0.36340
NM_001735.3(C5):c.2404G>A (p.Val802Ile) rs17611 0.36288
NM_181882.3(PRX):c.2763A>G (p.Ile921Met) rs268673 0.36279
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320 0.35815
NM_030665.4(RAI1):c.840del (p.Gln280fs) rs34083643 0.35741
NM_000363.5(TNNI3):c.25-8T>A rs3729836 0.35431
NM_001737.5(C9):c.13C>T (p.Arg5Trp) rs700233 0.35371
NM_033337.3(CAV3):c.99C>T (p.Asn33=) rs1008642 0.35060
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys) rs4148211 0.34608
NM_014270.5(SLC7A9):c.425T>C (p.Val142Ala) rs12150889 0.34607
NM_024753.5(TTC21B):c.1695C>T (p.Tyr565=) rs6750044 0.34586
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757 0.34386
NM_153700.2(STRC):c.179T>C (p.Phe60Ser) rs2729509 0.34286
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688 0.33665
NM_000130.5(F5):c.3804T>C (p.Ser1268=) rs1800594 0.33303
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=) rs10176588 0.33260
NM_144670.6(A2ML1):c.3364C>T (p.Arg1122Trp) rs1860967 0.33038
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990 0.32909
NM_004525.3(LRP2):c.248A>G (p.Asn83Ser) rs2229263 0.32675
NM_203447.4(DOCK8):c.65C>T (p.Ala22Val) rs506121 0.32420
NM_000754.4(COMT):c.408C>G (p.Leu136=) rs4818 0.32293
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=) rs1053315 0.32026
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=) rs3747563 0.31969
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31936
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31913
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) rs13181 0.31719
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu) rs1532268 0.31601
NM_002016.2(FLG):c.7956A>C (p.Glu2652Asp) rs192116923 0.31551
NM_014270.5(SLC7A9):c.667C>A (p.Leu223Met) rs1007160 0.31494
NM_001253852.3(AP4B1):c.618-13G>C rs3789613 0.31448
NM_001378452.1(ITPR1):c.6717A>G (p.Thr2239=) rs13079522 0.30449
NM_000548.5(TSC2):c.5161-10A>C rs1800718 0.30182
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=) rs2252748 0.30160
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala) rs6647 0.29917
NM_020822.3(KCNT1):c.1749G>A (p.Ala583=) rs17038714 0.29915
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_021956.5(GRIK2):c.2312-9C>T rs2227281 0.29456
NM_000130.5(F5):c.5290A>G (p.Met1764Val) rs6030 0.29437
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_003611.3(OFD1):c.1129+16A>G rs3815049 0.28815
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr) rs1043424 0.27663
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile) rs9353806 0.27343
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166 0.27295
NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196 0.27177
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806 0.27053
NM_004168.4(SDHA):c.1932G>A (p.Val644=) rs6961 0.26598
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.26492
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) rs1799793 0.26310
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023 0.26237
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln) rs3748361 0.25511
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515 0.25425
NM_198525.3(KIF7):c.3517+6C>T rs74251725 0.25419
NM_001166114.2(PNPLA6):c.2094G>A (p.Pro698=) rs8107538 0.25415
NM_017950.4(CCDC40):c.2832+313A>G rs7210679 0.25232
NM_004525.3(LRP2):c.8614G>A (p.Ala2872Thr) rs2228171 0.25207
NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg) rs11575934 0.25155
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.24782
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_000130.5(F5):c.2573A>G (p.Lys858Arg) rs4524 0.24628
NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe) rs6960 0.24550
NM_000130.5(F5):c.2208C>T (p.Ile736=) rs6016 0.24548
NM_000130.5(F5):c.2301A>G (p.Ser767=) rs6021 0.24547
NM_000130.5(F5):c.2773A>G (p.Lys925Glu) rs6032 0.24537
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291 0.24533
NM_000834.5(GRIN2B):c.2664C>T (p.Thr888=) rs1806201 0.24515
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=) rs2291862 0.24351
NM_000533.5(PLP1):c.609T>C (p.Asp203=) rs1126707 0.24299
NM_000384.3(APOB):c.293C>T (p.Thr98Ile) rs1367117 0.24155
NM_000130.5(F5):c.2594A>G (p.His865Arg) rs4525 0.24141
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=) rs12402052 0.24010
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) rs11121552 0.23876
NM_000552.5(VWF):c.1182A>C (p.Ser394=) rs1800376 0.23834
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe) rs16868972 0.23805
NM_001244008.2(KIF1A):c.3641-8C>T rs56024577 0.23553
NM_182961.4(SYNE1):c.8384C>T (p.Ala2795Val) rs214950 0.23524
NM_000130.5(F5):c.2235T>C (p.Asn745=) rs6017 0.23336
NM_000552.5(VWF):c.1173A>T (p.Thr391=) rs1800375 0.23172
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys) rs1126728 0.23125
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136 0.23047
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472 0.22903
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.22862
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) rs1346044 0.22580
NM_000130.5(F5):c.237A>G (p.Gln79=) rs6028 0.22486
NM_005120.3(MED12):c.736-8A>C rs62609586 0.22423
NM_000443.4(ABCB4):c.711A>T (p.Ile237=) rs2109505 0.22300
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503 0.22240
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619 0.21992
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr) rs446227 0.21985
NM_000130.5(F5):c.3948C>T (p.Leu1316=) rs9287090 0.21875
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303 0.21786
NM_001395413.1(POR):c.378A>G (p.Pro126=) rs1135612 0.21625
NM_177438.3(DICER1):c.4206+11del rs58202892 0.21617
NM_000383.4(AIRE):c.681C>T (p.Gly227=) rs1055311 0.21613
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His) rs36051007 0.21486
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21481
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn) rs8179065 0.21214
NM_001371623.1(TCOF1):c.4172C>T (p.Ala1391Val) rs15251 0.21165
NM_014141.6(CNTNAP2):c.1777+10A>G rs2286127 0.20881
NM_020975.6(RET):c.337+9G>A rs2435351 0.20840
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_032119.4(ADGRV1):c.8538T>G (p.Leu2846=) rs6880570 0.20300
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857 0.20212
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813 0.20187
NM_025000.4(DCAF17):c.322-14C>T rs192861143 0.20151
NM_005199.5(CHRNG):c.507-13C>T rs2853462 0.20060
NM_000350.3(ABCA4):c.5836-11G>A rs1800739 0.20005
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527 0.19565
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526 0.19557
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529 0.19381
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_000587.4(C7):c.1759A>C (p.Thr587Pro) rs13157656 0.18623
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179 0.18595
NM_000383.4(AIRE):c.588C>T (p.Ser196=) rs878081 0.18544
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=) rs16030 0.17770
NM_006031.6(PCNT):c.6384A>G (p.Thr2128=) rs60444527 0.17763
NM_170707.4(LMNA):c.1157+16G>A rs534807 0.17703
NM_001370466.1(NOD2):c.721C>T (p.Pro241Ser) rs2066842 0.17678
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964 0.17550
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=) rs34592169 0.17471
NM_001267550.2(TTN):c.8902+14del rs573000455 0.17128
NM_001267550.2(TTN):c.8902+16del rs570467105 0.17084
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16948
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile) rs73066479 0.16867
NM_000335.5(SCN5A):c.1141-3C>A rs41312433 0.16844
NM_001166114.2(PNPLA6):c.1207G>C (p.Ala403Pro) rs17854645 0.16605
NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys) rs1042031 0.16481
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile) rs1805388 0.16468
NM_000455.5(STK11):c.920+7G>C rs2075607 0.16357
NM_002633.3(PGM1):c.262A>G (p.Ile88Val) rs855314 0.16313
NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=) rs7868941 0.15561
NM_032119.4(ADGRV1):c.3141A>G (p.Ala1047=) rs950692 0.15398
NM_000552.5(VWF):c.6846A>G (p.Thr2282=) rs1053523 0.14911
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp) rs16869032 0.14695
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) rs2234962 0.14532
NM_003619.4(PRSS12):c.1816G>T (p.Ala606Ser) rs28661939 0.14235
NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=) rs3827848 0.14130
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025 0.14118
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr) rs6472 0.13352
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023 0.13336
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610 0.12981
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg) rs152451 0.12980
NM_000767.5(CYP2B6):c.785A>G (p.Lys262Arg) rs2279343 0.12936
NM_001364905.1(LRBA):c.3269C>G (p.Ala1090Gly) rs1782360 0.12638
NM_014694.4(ADAMTSL2):c.2022C>T (p.Pro674=) rs534165083 0.12576
NM_014694.4(ADAMTSL2):c.2613G>A (p.Val871=) rs62637566 0.12459
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_207346.3(TSEN54):c.370-19C>A rs56895494 0.12137
NM_133433.4(NIPBL):c.3575-17A>G rs78827246 0.12109
NM_000354.5(SERPINA7):c.909G>T (p.Leu303Phe) rs1804495 0.12108
NM_005535.3(IL12RB1):c.467G>A (p.Arg156His) rs11575926 0.11978
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022 0.11855
NM_019616.4(F7):c.1172G>A (p.Arg391Gln) rs6046 0.11574
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552 0.11428
NM_000527.5(LDLR):c.1725C>T (p.Leu575=) rs1799898 0.11001
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725 0.10965
NM_001287.6(CLCN7):c.1252G>A (p.Val418Met) rs12926089 0.10957
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138 0.10620
NM_003283.6(TNNT1):c.129-9T>G rs67795913 0.10318
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968 0.10301
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_001041.4(SI):c.4026A>G (p.Thr1342=) rs74648160 0.10127
NM_001377.3(DYNC2H1):c.8580A>G (p.Glu2860=) rs17394217 0.10011
NM_001267550.2(TTN):c.36655T>G (p.Leu12219Val) rs12994774 0.09975
NM_000492.4(CFTR):c.1210-13G>T rs10229820 0.09791
NM_001378615.1(CC2D2A):c.2003+19C>T rs17476642 0.09677
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989 0.09513
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu) rs143793502 0.09373
NM_018668.5(VPS33B):c.151C>A (p.Arg51=) rs11542638 0.09363
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) rs11479 0.09354
NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr) rs17301182 0.08953
NM_001377.3(DYNC2H1):c.3862A>G (p.Thr1288Ala) rs17301750 0.08745
NM_001160372.4(TRAPPC9):c.399T>C (p.Ala133=) rs61739560 0.08550
NM_001160372.4(TRAPPC9):c.555G>A (p.Lys185=) rs57593250 0.08546
NM_001160372.4(TRAPPC9):c.357G>A (p.Gly119=) rs34457678 0.08545
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=) rs3729845 0.08311
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.08263
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg) rs35548026 0.08193
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr) rs11669576 0.08075
NM_178857.6(RP1L1):c.3972A>G (p.Glu1324=) rs4840500 0.08074
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=) rs16006 0.08064
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412 0.07986
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr) rs6092 0.07985
NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln) rs12968116 0.07804
NM_001166114.2(PNPLA6):c.765C>T (p.Asn255=) rs591040 0.07695
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07451
NM_003476.5(CSRP3):c.336G>A (p.Ala112=) rs13451 0.07238
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07211
NM_001377.3(DYNC2H1):c.12457-6C>T rs11225812 0.07031
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg) rs28711516 0.06950
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly) rs72657698 0.06836
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln) rs1801701 0.06584
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06567
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712 0.06133
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile) rs5743291 0.06122
NM_001195248.2(APTX):c.484-12_484-11insG rs377129152 0.06028
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06023
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
NM_001355436.2(SPTB):c.4564-4G>A rs4902312 0.05860
NM_016373.4(WWOX):c.517-108230A>G rs77067228 0.05744
NM_000165.5(GJA1):c.*3dup rs397824185 0.05632
NM_000186.4(CFH):c.3138C>T (p.Thr1046=) rs61822181 0.05563
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys) rs79241126 0.05477
NM_144670.6(A2ML1):c.3569C>T (p.Ala1190Val) rs73040625 0.05426
NM_000249.4(MLH1):c.1558+14G>A rs41562513 0.05373
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519 0.05277
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_002617.4(PEX10):c.279C>T (p.Gly93=) rs1143016 0.05120
NM_206937.2(LIG4):c.8C>T (p.Ala3Val) rs1805389 0.04996
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339 0.04924
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239 0.04881
NM_014049.5(ACAD9):c.-44_-41dup rs387906242 0.04863
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929 0.04795
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=) rs17722172 0.04733
NM_000487.6(ARSA):c.1493G>A (p.Arg498His) rs6151428 0.04709
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_006206.6(PDGFRA):c.368-3C>T rs55947416 0.04639
NM_000257.4(MYH7):c.2923-18G>A rs7157087 0.04493
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu) rs12146610 0.04434
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607 0.04393
NM_000492.4(CFTR):c.-8G>C rs1800501 0.04368
NM_001204.7(BMPR2):c.853-21dup rs11464745 0.04307
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359 0.04130
NM_004577.4(PSPH):c.169C>T (p.Pro57Ser) rs79321413 0.04104
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_004577.4(PSPH):c.203T>C (p.Leu68Pro) rs78067484 0.04067
NM_032545.4(CFC1):c.61A>C (p.Asn21His) rs199607550 0.03977
NM_174936.4(PCSK9):c.658-36G>A rs11800265 0.03919
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862 0.03791
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03694
NM_003919.3(SGCE):c.1253+812G>A rs559235992 0.03668
NM_000384.3(APOB):c.11904-7C>T rs12720851 0.03622
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_004577.4(PSPH):c.194G>A (p.Arg65His) rs200442078 0.03604
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03411
NM_001105206.3(LAMA4):c.1190-8C>G rs73538515 0.03405
NM_000063.6(C2):c.954G>C (p.Glu318Asp) rs9332739 0.03307
NM_001101.5(ACTB):c.942G>A (p.Gln314=) rs11546939 0.03304
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419 0.03262
NM_007262.5(PARK7):c.234C>T (p.Gly78=) rs11548937 0.03255
NM_002087.4(GRN):c.384T>C (p.Asp128=) rs25646 0.03192
NM_000257.4(MYH7):c.1605A>G (p.Glu535=) rs2069543 0.03103
NM_000342.4(SLC4A1):c.1249C>T (p.Leu417=) rs5015 0.03041
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp) rs1800278 0.02886
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val) rs41305353 0.02876
NM_000384.3(APOB):c.5768A>G (p.His1923Arg) rs533617 0.02869
NM_004415.4(DSP):c.423-16_423-15insC rs113028223 0.02847
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_022773.4(LMF1):c.1091G>A (p.Arg364Gln) rs35168378 0.02818
NM_000489.6(ATRX):c.228G>A (p.Ser76=) rs5959371 0.02794
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp) rs1800273 0.02767
NM_007078.3(LDB3):c.1074C>T (p.Ala358=) rs45459491 0.02721
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val) rs35077384 0.02717
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144 0.02702
NM_000384.3(APOB):c.2188G>A (p.Val730Ile) rs12691202 0.02673
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr) rs115532916 0.02662
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02618
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02617
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915 0.02614
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114 0.02597
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818 0.02573
NM_004006.3(DMD):c.2623-11C>G rs1028360 0.02567
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr) rs1801695 0.02558
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821 0.02553
NM_024334.3(TMEM43):c.163-14C>T rs113745859 0.02553
NM_024496.4(IRF2BPL):c.336_346del (p.Gln113fs) rs776735350 0.02512
NM_024408.4(NOTCH2):c.6421C>T (p.Leu2141=) rs3795666 0.02483
NM_000257.4(MYH7):c.895+17G>A rs45580436 0.02470
NM_004415.4(DSP):c.273+10C>T rs56148603 0.02451
NM_001134363.3(RBM20):c.1801-11G>C rs12572941 0.02426
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02419
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln) rs8187801 0.02405
NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp) rs61735268 0.02395
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692 0.02384
NM_000513.2(OPN1MW):c.521C>T (p.Ala174Val) rs372044027 0.02377
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His) rs72648970 0.02369
NM_001035.3(RYR2):c.8437-7dup rs148246251 0.02365
NM_001035.3(RYR2):c.9449+8T>A rs60777199 0.02348
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu) rs13021201 0.02340
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr) rs41311343 0.02332
NM_006440.5(TXNRD2):c.374+13C>T rs9606178 0.02314
NM_133379.5(TTN):c.13476C>T (p.Asp4492=) rs72648904 0.02282
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02278
NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr) rs7908490 0.02263
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521 0.02188
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719 0.02170
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=) rs35445420 0.02143
NM_182961.4(SYNE1):c.3960A>G (p.Thr1320=) rs138705766 0.02134
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_004006.3(DMD):c.4878G>T (p.Val1626=) rs61733574 0.02120
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_001267550.2(TTN):c.67635T>C (p.Val22545=) rs2288570 0.02106
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly) rs72648982 0.02056
NM_001267550.2(TTN):c.37040-13A>G rs760603937 0.02053
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=) rs56034831 0.02043
NM_001267550.2(TTN):c.15717G>A (p.Thr5239=) rs72648932 0.02023
NM_001267550.2(TTN):c.86811A>G (p.Val28937=) rs55972010 0.02018
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=) rs11694623 0.01999
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys) rs56057221 0.01984
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508 0.01984
NM_001267550.2(TTN):c.95553C>T (p.Ser31851=) rs72648260 0.01980
NM_001267550.2(TTN):c.12117C>T (p.Pro4039=) rs55895721 0.01979
NM_000059.4(BRCA2):c.7397= (p.Val2466=) rs169547 0.01961
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369 0.01950
NM_000384.3(APOB):c.9004C>T (p.Leu3002=) rs12713600 0.01938
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser) rs72650006 0.01912
NM_133379.5(TTN):c.13869T>G (p.Ser4623=) rs72648906 0.01910
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala) rs34154371 0.01899
NM_001105206.3(LAMA4):c.4173T>C (p.Tyr1391=) rs35042032 0.01889
NM_001035.3(RYR2):c.11557+19C>T rs113408406 0.01877
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000168.6(GLI3):c.2835G>C (p.Leu945=) rs61758978 0.01858
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01847
NM_001927.4(DES):c.-30_-18dup rs794728983 0.01846
NM_001267550.2(TTN):c.87669T>C (p.His29223=) rs72648229 0.01840
NM_001267550.2(TTN):c.49648+16T>C rs57677875 0.01831
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile) rs56309296 0.01826
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr) rs56365600 0.01825
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01796
NM_001267550.2(TTN):c.542G>A (p.Ser181Asn) rs72647843 0.01782
NM_000500.9(CYP21A2):c.*13G>A rs6447 0.01770
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_001267550.2(TTN):c.22611T>C (p.His7537=) rs16866469 0.01765
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701 0.01764
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174 0.01757
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288 0.01748
NM_177438.3(DICER1):c.4206+9_4206+17del rs772457274 0.01738
NM_001035.3(RYR2):c.14421C>T (p.Asp4807=) rs75206601 0.01733
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile) rs61340537 0.01730
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile) rs56027402 0.01724
NM_133379.5(TTN):c.13165G>A (p.Val4389Ile) rs72648903 0.01724
NM_003476.5(CSRP3):c.312C>G (p.Thr104=) rs45582433 0.01721
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser) rs1801699 0.01706
NM_001267550.2(TTN):c.10850C>T (p.Ser3617Phe) rs57389274 0.01681
NM_004006.3(DMD):c.832-17C>A rs72470514 0.01678
NM_001267550.2(TTN):c.36855G>A (p.Pro12285=) rs535294541 0.01666
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys) rs72648987 0.01659
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) rs5742912 0.01653
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01651
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val) rs72648954 0.01649
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851 0.01643
NM_001105206.3(LAMA4):c.196-12T>C rs78871662 0.01627
NM_004252.5(NHERF1):c.328C>G (p.Leu110Val) rs35910969 0.01619
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_000021.4(PSEN1):c.1248+8T>C rs362382 0.01609
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401 0.01606
NM_004366.6(CLCN2):c.2063G>A (p.Arg688Gln) rs111656822 0.01603
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01591
NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=) rs75858380 0.01586
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962 0.01586
NM_001267550.2(TTN):c.62178T>C (p.Thr20726=) rs72646847 0.01577
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01574
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250 0.01555
NM_001171.6(ABCC6):c.3507-3C>T rs41278172 0.01548
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) rs6725673 0.01548
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr) rs744427 0.01542
NM_000051.4(ATM):c.1636C>G (p.Leu546Val) rs2227924 0.01541
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01532
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro) rs12720855 0.01525
NM_000384.3(APOB):c.7367C>A (p.Ala2456Asp) rs12713675 0.01524
NM_001267550.2(TTN):c.52706-17A>G rs72646807 0.01524
NM_003194.5(TBP):c.231_243del (p.Gln77fs) rs771725566 0.01524
NM_000384.3(APOB):c.12697T>A (p.Ser4233Thr) rs61743299 0.01522
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val) rs56376197 0.01516
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_004006.3(DMD):c.832-18C>G rs72470515 0.01505
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe) rs33917087 0.01497
NM_020297.4(ABCC9):c.1848C>T (p.Asp616=) rs61001398 0.01493
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys) rs79926414 0.01477
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln) rs61995925 0.01476
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213 0.01453
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677 0.01453
NM_001276345.2(TNNT2):c.163+12G>A rs45580032 0.01441
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097 0.01438
NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val) rs34070843 0.01430
NM_000251.3(MSH2):c.1077-10T>C rs17224360 0.01428
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=) rs66523653 0.01416
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys) rs62618736 0.01410
NM_198994.3(TGM6):c.1342C>T (p.Arg448Trp) rs147979536 0.01406
NM_000051.4(ATM):c.2685A>G (p.Leu895=) rs3218687 0.01393
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230 0.01390
NM_019892.6(INPP5E):c.1388-13C>T rs78828148 0.01390
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) rs1801158 0.01373
NM_000447.3(PSEN2):c.441C>T (p.Ser147=) rs114334281 0.01358
NM_001267550.2(TTN):c.10700G>A (p.Ser3567Asn) rs72955213 0.01357
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly) rs141736123 0.01357
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_133379.5(TTN):c.13478A>C (p.Lys4493Thr) rs78457662 0.01346
NM_001105206.3(LAMA4):c.195+144T>C rs147118520 0.01345
NM_002471.4(MYH6):c.399G>A (p.Val133=) rs78891557 0.01343
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val) rs55948748 0.01336
NM_133379.5(TTN):c.13608C>T (p.Ser4536=) rs72648905 0.01336
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196 0.01334
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595 0.01324
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01316
NM_001267550.2(TTN):c.37009C>T (p.Pro12337Ser) rs201474544 0.01309
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_001378452.1(ITPR1):c.8166C>A (p.Gly2722=) rs73098087 0.01305
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968 0.01304
NM_001289808.2(CRYAB):c.165G>A (p.Leu55=) rs2228387 0.01303
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr) rs78183930 0.01302
NM_032578.4(MYPN):c.2925+9G>C rs12241644 0.01302
NM_014687.4(RUBCN):c.2126C>T (p.Thr709Met) rs35071969 0.01298
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01296
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285 0.01295
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=) rs56226196 0.01290
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys) rs72646869 0.01270
NM_001035.3(RYR2):c.6928+4G>A rs79862521 0.01267
NM_003119.4(SPG7):c.9G>T (p.Val3=) rs553241838 0.01255
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813 0.01242
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01231
NM_020297.4(ABCC9):c.3321C>T (p.Ile1107=) rs35404804 0.01226
NM_001267550.2(TTN):c.2949C>T (p.Ile983=) rs56310516 0.01223
NM_004006.3(DMD):c.3021G>A (p.Ser1007=) rs1800268 0.01219
NM_000238.4(KCNH2):c.1332G>A (p.Glu444=) rs9770044 0.01204
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_001267550.2(TTN):c.98595A>G (p.Glu32865=) rs55977045 0.01192
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01180
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val) rs72647877 0.01178
NM_145046.5(CALR3):c.861G>A (p.Thr287=) rs118131979 0.01174
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg) rs17355460 0.01172
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134 0.01166
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476 0.01161
NM_000257.4(MYH7):c.3972+15C>T rs3729820 0.01159
NM_001943.5(DSG2):c.217-5G>T rs80073511 0.01156
NM_000249.4(MLH1):c.1039-8T>A rs193922367 0.01153
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro) rs62621206 0.01151
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr) rs55880440 0.01150
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=) rs114145817 0.01143
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298 0.01139
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=) rs67041405 0.01136
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_030665.4(RAI1):c.840_849del (p.Gln280fs) rs760854027 0.01119
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=) rs72648935 0.01116
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_001035.3(RYR2):c.10230+20T>C rs74323916 0.01096
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu) rs77853750 0.01096
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met) rs55865284 0.01093
NM_182961.4(SYNE1):c.10522T>C (p.Leu3508=) rs62426382 0.01086
NM_001366385.1(CARD14):c.2044C>T (p.Arg682Trp) rs117918077 0.01085
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856 0.01079
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile) rs55842557 0.01073
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) rs34629171 0.01070
NM_001105206.3(LAMA4):c.4065C>T (p.Phe1355=) rs34753919 0.01070
NM_001276345.2(TNNT2):c.294+7G>A rs45490292 0.01066
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser) rs67254537 0.01037
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val) rs66961115 0.01037
NM_001184.4(ATR):c.891G>C (p.Lys297Asn) rs2229033 0.01036
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=) rs73036373 0.01031
NM_001035.3(RYR2):c.2397-6C>T rs78165942 0.01029
NM_005633.4(SOS1):c.1203-20T>C rs112906251 0.01029
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His) rs35523678 0.01028
NM_001267550.2(TTN):c.11019C>T (p.Cys3673=) rs72955212 0.01027
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=) rs56375087 0.01024
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01021
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379 0.01020
NM_001035.3(RYR2):c.6440+20C>T rs115755128 0.01016
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01016
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314 0.01013
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met) rs117761837 0.01011
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile) rs1800269 0.01009
NM_000124.4(ERCC6):c.1337G>A (p.Gly446Asp) rs4253047 0.01008
NM_177438.3(DICER1):c.4206+9del rs368080354 0.01007
NM_198428.3(BBS9):c.2299-20A>C rs17727583 0.01007
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902 0.01004
NM_002471.4(MYH6):c.2946G>A (p.Glu982=) rs145274612 0.01001
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_001035.3(RYR2):c.13977G>A (p.Glu4659=) rs78369334 0.00989
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile) rs72646850 0.00987
NM_014314.4(RIGI):c.212G>A (p.Arg71His) rs72710678 0.00981
NM_001040142.2(SCN2A):c.1785T>C (p.Asp595=) rs141815642 0.00973
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe) rs140118273 0.00973
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln) rs34819099 0.00971
NM_018100.4(EFHC1):c.881G>A (p.Arg294His) rs1570624 0.00969
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr) rs150682895 0.00967
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747 0.00964
NM_007137.5(ZNF81):c.554C>T (p.Ser185Leu) rs186251256 0.00955
NM_000250.2(MPO):c.752T>C (p.Met251Thr) rs56378716 0.00954
NM_001324144.2(ZNF41):c.945T>G (p.Asp315Glu) rs2498170 0.00954
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
NM_004415.4(DSP):c.3510G>A (p.Glu1170=) rs28763964 0.00942
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00940
NM_004415.4(DSP):c.6390T>C (p.Ala2130=) rs28763969 0.00940
NM_002471.4(MYH6):c.3627C>T (p.Ile1209=) rs147871745 0.00930
NM_002471.4(MYH6):c.3480C>T (p.Ser1160=) rs373345984 0.00929
NM_016599.5(MYOZ2):c.237A>G (p.Ala79=) rs17851524 0.00928
NM_000203.5(IDUA):c.299+6C>T rs147498923 0.00927
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg) rs111449472 0.00921
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) rs62178963 0.00915
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00915
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu) rs72629787 0.00909
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260 0.00908
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_182961.4(SYNE1):c.9165C>A (p.Ser3055=) rs117020413 0.00908
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_004100.5(EYA4):c.1845C>T (p.Asn615=) rs142721902 0.00903
NM_007254.4(PNKP):c.1127-8C>T rs3739203 0.00901
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00899
NM_015192.4(PLCB1):c.2413+9C>T rs138442805 0.00899
NM_000249.4(MLH1):c.1959G>T (p.Leu653=) rs1800146 0.00891
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr) rs11570680 0.00890
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541 0.00877
NM_020975.6(RET):c.375C>A (p.Val125=) rs1800859 0.00877
NM_003919.3(SGCE):c.1253+814G>A rs183951730 0.00875
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_007078.3(LDB3):c.1506G>A (p.Pro502=) rs45579241 0.00863
NM_020297.4(ABCC9):c.*19T>C rs114906131 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_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_006846.4(SPINK5):c.2905A>G (p.Lys969Glu) rs3188691 0.00856
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=) rs140237315 0.00855
NM_032578.4(MYPN):c.1245+20A>G rs111634581 0.00851
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=) rs73025979 0.00850
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn) rs117983287 0.00850
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp) rs5030672 0.00847
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val) rs75937132 0.00847
NM_000384.3(APOB):c.2604+15G>C rs72653066 0.00842
NM_024334.3(TMEM43):c.222C>T (p.Pro74=) rs34099410 0.00841
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913 0.00832
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155 0.00831
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) rs55861600 0.00828
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=) rs72646893 0.00826
NM_174936.4(PCSK9):c.141C>T (p.Ser47=) rs28385701 0.00824
NM_001386795.1(DTNA):c.2162+14G>A rs76713874 0.00820
NM_006772.3(SYNGAP1):c.84T>C (p.Ser28=) rs142359891 0.00815
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213 0.00811
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301 0.00809
NM_000320.3(QDPR):c.96C>T (p.Ala32=) rs2518608 0.00808
NM_133379.5(TTN):c.14244T>C (p.Leu4748=) rs139669372 0.00806
NM_001083961.2(WDR62):c.2991C>T (p.Ala997=) rs77898819 0.00804
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=) rs56310931 0.00799
NM_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868 0.00799
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007 0.00798
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744 0.00795
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00790
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240 0.00782
NM_001276345.2(TNNT2):c.68-8A>G rs115805892 0.00782
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=) rs150761878 0.00781
NM_002693.3(POLG):c.3597C>A (p.Thr1199=) rs2307443 0.00770
NM_148919.4(PSMB8):c.220A>T (p.Thr74Ser) rs17220206 0.00770
NM_020297.4(ABCC9):c.2200G>A (p.Val734Ile) rs61688134 0.00769
NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met) rs78461695 0.00769
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly) rs12720854 0.00761
NM_182961.4(SYNE1):c.156T>C (p.Asp52=) rs139156106 0.00761
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534 0.00759
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=) rs61730035 0.00758
NM_000527.5(LDLR):c.2140+5G>A rs72658867 0.00757
NM_001267550.2(TTN):c.42219C>T (p.Phe14073=) rs150612172 0.00757
NM_181332.3(NLGN4X):c.1777C>T (p.Leu593Phe) rs3747333 0.00756
NM_005138.3(SCO2):c.763C>A (p.Arg255=) rs112793292 0.00755
NM_014391.3(ANKRD1):c.-17A>G rs79341122 0.00753
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597 0.00750
NM_004006.3(DMD):c.3603+8A>G rs193249735 0.00743
NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=) rs111033429 0.00742
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr) rs116826041 0.00739
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg) rs148398509 0.00737
NM_000384.3(APOB):c.3337G>C (p.Asp1113His) rs12713844 0.00735
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290 0.00735
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00735
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447 0.00731
NM_002471.4(MYH6):c.4206C>T (p.Ala1402=) rs111638554 0.00728
NM_004085.4(TIMM8A):c.-6C>T rs180806413 0.00726
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974 0.00725
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=) rs74321406 0.00724
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr) rs12714225 0.00723
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00722
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn) rs179363896 0.00715
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00714
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974 0.00712
NM_201378.4(PLEC):c.71-11718C>T rs190222339 0.00712
NM_001267550.2(TTN):c.50551+20C>T rs67636125 0.00708
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258 0.00707
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716 0.00706
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048 0.00704
NM_007262.5(PARK7):c.293G>A (p.Arg98Gln) rs71653619 0.00704
NM_001267550.2(TTN):c.57462G>A (p.Gln19154=) rs72646832 0.00703
NM_001267550.2(TTN):c.57464G>A (p.Arg19155Lys) rs72646833 0.00702
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu) rs17452588 0.00701
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_213599.3(ANO5):c.1545A>G (p.Ser515=) rs35843353 0.00699
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895 0.00698
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn) rs17354992 0.00698
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924 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_001927.4(DES):c.735+20C>T rs151226355 0.00694
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_170665.4(ATP2A2):c.327A>G (p.Glu109=) rs55984131 0.00693
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln) rs61757217 0.00689
NM_201384.3(PLEC):c.11940C>T (p.Ile3980=) rs148865812 0.00677
NM_000320.3(QDPR):c.105+17G>A rs149373480 0.00676
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=) rs117485827 0.00672
NM_001267550.2(TTN):c.81057T>C (p.Thr27019=) rs114908705 0.00671
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys) rs535143891 0.00670
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=) rs144876996 0.00670
NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu) rs1042023 0.00669
NM_003072.5(SMARCA4):c.2388C>T (p.Leu796=) rs28997580 0.00668
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=) rs72648258 0.00667
NM_001378615.1(CC2D2A):c.541-20T>G rs114335547 0.00664
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884 0.00660
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) rs12735723 0.00660
NM_001267550.2(TTN):c.45083-10A>G rs72677222 0.00656
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585 0.00654
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093 0.00654
NM_000059.4(BRCA2):c.517-19C>T rs11571623 0.00653
NM_006846.4(SPINK5):c.1322G>A (p.Arg441His) rs34393923 0.00653
NM_000170.3(GLDC):c.2203G>T (p.Val735Leu) rs143119940 0.00650
NM_001082971.2(DDC):c.436-12T>C rs144962948 0.00650
NM_018714.3(COG1):c.1049C>T (p.Thr350Met) rs117344829 0.00650
NM_018136.5(ASPM):c.3742-10T>G rs41299587 0.00649
NM_001931.5(DLAT):c.928G>A (p.Glu310Lys) rs116125936 0.00644
NM_001035.3(RYR2):c.576+7G>C rs10925392 0.00643
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00640
NM_000527.5(LDLR):c.1061-8T>C rs72658861 0.00640
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_005045.4(RELN):c.6078C>T (p.Asn2026=) rs79610081 0.00635
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly) rs146983095 0.00634
NM_001267550.2(TTN):c.99111T>C (p.Tyr33037=) rs77257306 0.00632
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119 0.00631
NM_000460.4(THPO):c.-259G>A rs41266279 0.00629
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_020529.3(NFKBIA):c.548-3C>T rs2233418 0.00626
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00625
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00623
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=) rs138477292 0.00622
NM_000447.3(PSEN2):c.756G>C (p.Ala252=) rs147702142 0.00621
NM_004006.3(DMD):c.3787-18T>C rs72468656 0.00621
NM_016233.2(PADI3):c.881C>T (p.Ala294Val) rs144080386 0.00620
NM_201384.3(PLEC):c.13110C>T (p.Ala4370=) rs187810163 0.00617
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=) rs56181243 0.00615
NM_033305.3(VPS13A):c.9400-15A>C rs117688596 0.00615
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962 0.00614
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe) rs34618570 0.00613
NM_032119.4(ADGRV1):c.2553+11T>A rs73181640 0.00612
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408 0.00611
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_001035.3(RYR2):c.14299-12A>G rs41267519 0.00609
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728 0.00609
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro) rs4988111 0.00608
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=) rs76771282 0.00607
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00606
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00603
NM_006662.3(SRCAP):c.4603C>G (p.Pro1535Ala) rs117804715 0.00599
NM_000059.4(BRCA2):c.9257-16T>C rs11571818 0.00597
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00591
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653 0.00590
NM_001044.5(SLC6A3):c.162C>T (p.Pro54=) rs6351 0.00589
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338 0.00584
NM_000384.3(APOB):c.129G>C (p.Ala43=) rs12720850 0.00580
NM_133379.5(TTN):c.13936A>G (p.Lys4646Glu) rs140909116 0.00580
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834 0.00578
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00577
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444 0.00577
NM_033305.3(VPS13A):c.6379-17T>G rs373072093 0.00577
NM_033629.6(TREX1):c.462T>C (p.Asp154=) rs3135944 0.00576
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=) rs45624133 0.00575
NM_001134363.3(RBM20):c.1881-3C>T rs138436392 0.00575
NM_014687.4(RUBCN):c.1971C>T (p.Ala657=) rs148884163 0.00574
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00573
NM_006031.6(PCNT):c.8752-5A>C rs149444205 0.00573
NM_031418.4(ANO3):c.1968C>T (p.Ile656=) rs149050831 0.00572
NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu) rs33971253 0.00570
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769 0.00567
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=) rs72646857 0.00566
NM_001035.3(RYR2):c.1292+20C>T rs182050281 0.00565
NM_000384.3(APOB):c.12382G>A (p.Val4128Met) rs1801703 0.00562
NM_000384.3(APOB):c.10131G>A (p.Leu3377=) rs1799812 0.00560
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_001909.5(CTSD):c.1072-7G>A rs149019571 0.00560
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605 0.00559
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=) rs138123155 0.00559
NM_001081.4(CUBN):c.7365T>A (p.Asp2455Glu) rs117128556 0.00558
NM_015570.4(AUTS2):c.2784C>T (p.Ala928=) rs79439293 0.00558
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val) rs72654423 0.00557
NM_138295.5(PKD1L1):c.5467G>A (p.Asp1823Asn) rs116988549 0.00557
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00554
NM_000384.3(APOB):c.905-15C>G rs72653061 0.00554
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_002230.4(JUP):c.1774-13C>T rs116772523 0.00553
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00551
NM_030665.4(RAI1):c.4512G>T (p.Leu1504=) rs117995220 0.00547
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=) rs72650003 0.00545
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_174936.4(PCSK9):c.720C>T (p.Gly240=) rs41297883 0.00544
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) rs57474185 0.00543
NM_001159699.2(FHL1):c.204+5C>T rs182106777 0.00542
NM_003611.3(OFD1):c.1264A>G (p.Lys422Glu) rs61746932 0.00542
NM_212482.4(FN1):c.4486C>T (p.Arg1496Trp) rs139078629 0.00542
NM_004247.4(EFTUD2):c.1058+3_1058+7del rs536749831 0.00538
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly) rs74897360 0.00538
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237 0.00536
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) rs149840356 0.00534
NM_001267550.2(TTN):c.39709+6C>T rs72650067 0.00533
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_007137.5(ZNF81):c.470A>G (p.Asn157Ser) rs41312157 0.00531
NM_024408.4(NOTCH2):c.456C>T (p.Pro152=) rs143287927 0.00531
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891 0.00530
NM_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031 0.00529
NM_021098.3(CACNA1H):c.5493C>T (p.Tyr1831=) rs60218977 0.00526
NM_032578.4(MYPN):c.1134C>T (p.Ile378=) rs145701607 0.00526
NM_024589.3(ROGDI):c.713G>A (p.Arg238His) rs138409264 0.00525
NM_000447.3(PSEN2):c.1176C>T (p.Phe392=) rs115652716 0.00524
NM_003738.5(PTCH2):c.840T>C (p.Ser280=) rs147627670 0.00524
NM_000834.5(GRIN2B):c.3498C>T (p.Ser1166=) rs45600931 0.00523
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471 0.00521
NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile) rs35012521 0.00520
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_201384.3(PLEC):c.3351C>T (p.Ala1117=) rs145376880 0.00518
NM_000384.3(APOB):c.12794T>C (p.Val4265Ala) rs61743502 0.00516
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_000210.4(ITGA6):c.2728G>A (p.Asp910Asn) rs61737182 0.00515
NM_001131016.2(CIZ1):c.1170G>T (p.Gln390His) rs61740197 0.00514
NM_001077653.2(TBX20):c.1017A>C (p.Thr339=) rs112054378 0.00512
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_006846.4(SPINK5):c.2667-4G>A rs180955184 0.00511
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00508
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00504
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446 0.00504
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_000335.5(SCN5A):c.3508+10C>T rs41258454 0.00502
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00501
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816 0.00500
NM_002578.5(PAK3):c.276+2659T>C rs142890115 0.00497
NM_000251.3(MSH2):c.984C>T (p.Ala328=) rs4987189 0.00495
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile) rs45508991 0.00495
NM_016203.4(PRKAG2):c.639C>T (p.Thr213=) rs140001300 0.00493
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629 0.00491
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00490
NM_002471.4(MYH6):c.330G>A (p.Ala110=) rs77679218 0.00490
NM_016233.2(PADI3):c.335T>A (p.Leu112His) rs142129409 0.00490
NM_024105.4(ALG12):c.631C>T (p.Arg211Cys) rs144665682 0.00490
NM_033629.6(TREX1):c.198G>A (p.Lys66=) rs3135943 0.00490
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile) rs61752970 0.00489
NM_015662.3(IFT172):c.1685C>G (p.Thr562Ser) rs61743977 0.00489
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00487
NM_004006.3(DMD):c.10789C>T (p.Leu3597=) rs1800281 0.00486
NM_024334.3(TMEM43):c.162+21C>T rs137975239 0.00485
NM_020297.4(ABCC9):c.2644-19G>A rs73254534 0.00477
NM_133379.5(TTN):c.13455T>C (p.Pro4485=) rs146470872 0.00477
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856 0.00476
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=) rs61742801 0.00476
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00475
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=) rs144125742 0.00475
NM_004415.4(DSP):c.2630+18C>T rs145963404 0.00475
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=) rs62427038 0.00474
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984 0.00473
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_003923.3(FOXH1):c.338G>C (p.Ser113Thr) rs144830740 0.00471
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691 0.00471
NM_000257.4(MYH7):c.1579-17C>T rs182949516 0.00470
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938 0.00470
NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala) rs75831573 0.00470
NM_031418.4(ANO3):c.164C>T (p.Ser55Phe) rs61746297 0.00470
NM_001909.5(CTSD):c.353-12C>T rs141523461 0.00468
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu) rs145191932 0.00466
NM_003476.5(CSRP3):c.213C>T (p.Ile71=) rs45476991 0.00466
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846 0.00466
NM_024426.6(WT1):c.1114-9T>C rs5030274 0.00465
NM_002204.4(ITGA3):c.929C>T (p.Ala310Val) rs61730088 0.00464
NM_017849.4(TMEM127):c.409+7C>T rs189327749 0.00463
NM_133459.4(CCBE1):c.195G>A (p.Glu65=) rs116673304 0.00463
NM_001035.3(RYR2):c.1863C>T (p.His621=) rs17686573 0.00460
NM_002693.3(POLG):c.3198G>A (p.Thr1066=) rs61752780 0.00460
NM_002471.4(MYH6):c.86G>A (p.Arg29Gln) rs150574114 0.00455
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro) rs13171868 0.00453
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) rs111033338 0.00452
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_002471.4(MYH6):c.1989C>T (p.Asn663=) rs28730774 0.00451
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684 0.00449
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_033004.4(NLRP1):c.1599G>T (p.Gln533His) rs112191372 0.00449
NM_052989.3(IFT122):c.1273C>T (p.Arg425Trp) rs61744639 0.00449
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_020297.4(ABCC9):c.285-16G>A rs144825585 0.00448
NM_153638.4(PANK2):c.276G>A (p.Arg92=) rs142832849 0.00448
NM_001035.3(RYR2):c.14029C>T (p.Leu4677=) rs112864477 0.00446
NM_001267550.2(TTN):c.*6C>A rs188728343 0.00446
NM_002472.3(MYH8):c.5513A>C (p.Glu1838Ala) rs111567318 0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399 0.00445
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=) rs35647984 0.00445
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=) rs142351862 0.00444
NM_002471.4(MYH6):c.2168+17C>A rs192337153 0.00443
NM_014000.3(VCL):c.1317T>C (p.Ser439=) rs71579355 0.00442
NM_004281.4(BAG3):c.231G>A (p.Pro77=) rs143752613 0.00441
NM_001386795.1(DTNA):c.210G>A (p.Leu70=) rs117571555 0.00440
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00439
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_058004.4(PI4KA):c.5235G>A (p.Ser1745=) rs143539146 0.00439
NM_000317.3(PTS):c.315-3T>C rs189365250 0.00436
NM_183357.3(ADCY5):c.1902G>C (p.Glu634Asp) rs61734561 0.00436
NM_000096.4(CP):c.2522C>G (p.Thr841Arg) rs56033670 0.00435
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_001267550.2(TTN):c.33742+11A>G rs72650042 0.00433
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val) rs72650029 0.00431
NM_001103.4(ACTN2):c.536+10C>T rs141219516 0.00429
NM_001105206.3(LAMA4):c.888C>T (p.Ser296=) rs17073495 0.00429
NM_020297.4(ABCC9):c.142+15dup rs571187142 0.00428
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val) rs116005007 0.00425
NM_000186.4(CFH):c.2850G>T (p.Gln950His) rs149474608 0.00425
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser) rs61737992 0.00419
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_002471.4(MYH6):c.622G>A (p.Asp208Asn) rs142027794 0.00417
NM_014000.3(VCL):c.1177-15C>T rs115083446 0.00414
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_012213.3(MLYCD):c.799-16C>T rs150789545 0.00413
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345 0.00412
NM_005634.3(SOX3):c.157G>C (p.Val53Leu) rs200361128 0.00412
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00411
NM_004006.3(DMD):c.7542+13A>G rs72466585 0.00410
NM_033305.3(VPS13A):c.2037+8C>A rs41289961 0.00410
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268 0.00408
NM_000335.5(SCN5A):c.717C>T (p.Ile239=) rs41285129 0.00407
NM_000527.5(LDLR):c.941-39C>T rs55792959 0.00407
NM_012179.4(FBXO7):c.122+9G>A rs192327462 0.00407
NM_000382.3(ALDH3A2):c.28C>G (p.Gln10Glu) rs72547554 0.00406
NM_022089.4(ATP13A2):c.*120A>T rs41273151 0.00406
NM_004608.4(TBX6):c.484G>A (p.Gly162Ser) rs56098093 0.00404
NM_201384.3(PLEC):c.7074G>A (p.Ala2358=) rs146381488 0.00404
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met) rs138108344 0.00403
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599 0.00402
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00400
NM_000384.3(APOB):c.8353A>C (p.Asn2785His) rs2163204 0.00400
NM_201384.3(PLEC):c.5304G>A (p.Leu1768=) rs186670912 0.00400
NM_000432.4(MYL2):c.170-19T>C rs115522476 0.00399
NM_000053.4(ATP7B):c.3015C>T (p.Asn1005=) rs74085888 0.00398
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=) rs56151652 0.00397
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00396
NM_001374828.1(ARID1B):c.3235+6C>T rs148976215 0.00393
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00393
NM_001378452.1(ITPR1):c.1480G>A (p.Val494Ile) rs41289628 0.00391
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00391
NM_001257975.2(CIZ1):c.45G>T (p.Ala15=) rs144814370 0.00390
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432 0.00389
NM_001079668.3(NKX2-1):c.1093G>T (p.Ala365Ser) rs147542347 0.00389
NM_001128205.2(SULF1):c.1111A>G (p.Ile371Val) rs118056333 0.00389
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033 0.00388
NM_080425.4(GNAS):c.1455C>A (p.Ala485=) rs55890501 0.00388
NM_003119.4(SPG7):c.1653C>T (p.Arg551=) rs56031686 0.00386
NM_004168.4(SDHA):c.456+20G>C rs193283468 0.00385
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555 0.00382
NM_004360.5(CDH1):c.532-18C>T rs200673941 0.00381
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601 0.00381
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00380
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00378
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His) rs41304892 0.00378
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272 0.00377
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_001190417.2(ZNF674):c.586C>T (p.Arg196Ter) rs182004761 0.00376
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) rs148197254 0.00374
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=) rs34715591 0.00373
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) rs146458524 0.00372
NM_001286577.2(C2CD3):c.704C>T (p.Pro235Leu) rs149910292 0.00372
NM_000271.5(NPC1):c.1947+14_1947+15insC rs201170241 0.00371
NM_182961.4(SYNE1):c.1983C>T (p.Asn661=) rs149670417 0.00370
NM_198994.3(TGM6):c.1580T>A (p.Val527Glu) rs61729226 0.00370
NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser) rs9885480 0.00369
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00367
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00366
NM_004064.5(CDKN1B):c.426G>A (p.Thr142=) rs149775942 0.00366
NM_001267550.2(TTN):c.66160+16G>A rs149714835 0.00364
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325 0.00364
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00364
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu) rs35473230 0.00364
NM_001134363.3(RBM20):c.1275+13A>G rs373230569 0.00363
NM_021098.3(CACNA1H):c.489G>C (p.Gln163His) rs60593994 0.00363
NM_133433.4(NIPBL):c.6109-3T>C rs145778995 0.00363
NM_001267550.2(TTN):c.34474C>A (p.Pro11492Thr) rs182428755 0.00362
NM_001383.6(DPH1):c.731C>G (p.Pro244Arg) rs80150196 0.00361
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys) rs146569520 0.00359
NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val) rs114734921 0.00358
NM_015046.7(SETX):c.6108A>G (p.Gly2036=) rs35815657 0.00358
NM_020778.5(ALPK3):c.2595C>T (p.Pro865=) rs114957070 0.00358
NM_201384.3(PLEC):c.5476C>T (p.Arg1826Trp) rs200575795 0.00358
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310 0.00357
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00356
NM_001323289.2(CDKL5):c.145+17A>G rs199814742 0.00356
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944 0.00355
NM_014000.3(VCL):c.1542C>T (p.Val514=) rs7904077 0.00355
NM_000335.5(SCN5A):c.1017C>T (p.Tyr339=) rs17215493 0.00354
NM_001267550.2(TTN):c.7740T>G (p.Ile2580Met) rs146590898 0.00354
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826 0.00353
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) rs144372453 0.00352
NM_003977.4(AIP):c.100-18C>T rs202156895 0.00352
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) rs41313693 0.00351
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00351
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703 0.00349
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116 0.00349
NM_182925.5(FLT4):c.1921C>T (p.Pro641Ser) rs55667289 0.00349
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00347
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys) rs72646861 0.00347
NM_002693.3(POLG):c.1126C>T (p.Leu376=) rs116165908 0.00347
NM_000330.4(RS1):c.184+3199G>A rs36022183 0.00345
NM_020297.4(ABCC9):c.2523C>T (p.Ala841=) rs144537241 0.00345
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208 0.00344
NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp) rs28910273 0.00344
NM_000094.4(COL7A1):c.54G>C (p.Ala18=) rs35899847 0.00343
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116 0.00343
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_000271.5(NPC1):c.2795+19T>C rs200103695 0.00342
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00342
NM_007078.3(LDB3):c.1263G>A (p.Gly421=) rs139834701 0.00342
NM_000243.3(MEFV):c.1467G>A (p.Gln489=) rs61732424 0.00341
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237 0.00341
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00340
NM_001378120.1(MBD5):c.1638C>T (p.Ala546=) rs116413446 0.00337
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00337
NM_000421.5(KRT10):c.135A>G (p.Gly45=) rs150048434 0.00336
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met) rs115784602 0.00336
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) rs121909046 0.00335
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp) rs72648964 0.00335
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161 0.00335
NM_000504.4(F10):c.424G>A (p.Glu142Lys) rs61753266 0.00334
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219 0.00333
NM_133379.5(TTN):c.11741C>G (p.Thr3914Arg) rs116593093 0.00333
NM_001271.4(CHD2):c.2577+7T>C rs146944583 0.00332
NM_004360.5(CDH1):c.833-16C>G rs33984587 0.00332
NM_133379.5(TTN):c.12067G>A (p.Gly4023Arg) rs143253411 0.00332
NM_001378414.1(HDAC4):c.958G>A (p.Val320Ile) rs73000144 0.00328
NM_001386795.1(DTNA):c.1435-19T>C rs141620769 0.00328
NM_000687.4(AHCY):c.274A>G (p.Ile92Val) rs11552695 0.00327
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00326
NM_006306.4(SMC1A):c.855-15C>T rs147791932 0.00326
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg) rs181769913 0.00324
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr) rs72648923 0.00324
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=) rs56351817 0.00324
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992 0.00323
NM_001267550.2(TTN):c.58636G>C (p.Glu19546Gln) rs201840554 0.00323
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) rs139600783 0.00323
NM_020822.3(KCNT1):c.99A>G (p.Gln33=) rs146152956 0.00323
NM_000094.4(COL7A1):c.6654C>G (p.Gly2218=) rs151111203 0.00322
NM_004525.3(LRP2):c.2933C>T (p.Thr978Met) rs114842875 0.00322
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_001082971.2(DDC):c.96C>T (p.Asp32=) rs11575290 0.00319
NM_001126049.2(KLLN):c.382C>G (p.Arg128Gly) rs201652303 0.00319
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile) rs141624266 0.00318
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754 0.00317
NM_004281.4(BAG3):c.181-9T>A rs139232658 0.00317
NM_004385.5(VCAN):c.4604A>G (p.Glu1535Gly) rs61749614 0.00315
NM_000051.4(ATM):c.5918+72A>G rs3218694 0.00314
NM_000053.4(ATP7B):c.3557-6C>T rs140708492 0.00314
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151 0.00313
NM_001267550.2(TTN):c.31847-17A>G rs72650025 0.00313
NM_001267550.2(TTN):c.10114+5G>A rs115985443 0.00312
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser) rs145727304 0.00312
NM_007078.3(LDB3):c.147G>A (p.Val49=) rs45591834 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_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_006121.4(KRT1):c.592-8G>A rs147622831 0.00311
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968 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_005120.3(MED12):c.1248+15T>C rs187377817 0.00307
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632 0.00307
NM_006416.5(SLC35A1):c.133A>G (p.Thr45Ala) rs145006535 0.00306
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_001111.5(ADAR):c.2553C>T (p.Cys851=) rs138927668 0.00304
NM_004656.4(BAP1):c.1026C>T (p.Ser342=) rs71651686 0.00304
NM_015909.4(NBAS):c.4913G>A (p.Arg1638His) rs146449593 0.00303
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00302
NM_139058.3(ARX):c.1074-3T>C rs200700643 0.00302
NM_144573.4(NEXN):c.1408G>C (p.Glu470Gln) rs35366555 0.00302
NM_000718.4(CACNA1B):c.4848C>T (p.Ile1616=) rs77664166 0.00301
NM_001264.5(CDSN):c.1302C>A (p.Ser434Arg) rs150846158 0.00301
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925 0.00301
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr) rs148076109 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_201384.3(PLEC):c.4651C>T (p.Arg1551Cys) rs2857824 0.00301
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00299
NM_004655.4(AXIN2):c.1530G>A (p.Thr510=) rs141014640 0.00299
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245 0.00298
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116 0.00298
NC_000005.10:g.177409584C>G rs41309132 0.00297
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688 0.00297
NM_000548.5(TSC2):c.228C>T (p.His76=) rs45517097 0.00297
NM_003193.5(TBCE):c.214C>T (p.Pro72Ser) rs62620041 0.00297
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys) rs34102501 0.00297
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00297
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00296
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln) rs188054898 0.00296
NM_003227.4(TFR2):c.1127C>A (p.Ala376Asp) rs41303495 0.00296
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_020831.6(MRTFA):c.1332G>A (p.Pro444=) rs148478967 0.00295
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=) rs73038337 0.00293
NM_013266.4(CTNNA3):c.1587T>A (p.Asp529Glu) rs74141466 0.00293
NM_080473.5(GATA5):c.56C>G (p.Ser19Trp) rs200383755 0.00291
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala) rs201763096 0.00291
NM_001267550.2(TTN):c.69716-5C>G rs72646886 0.00290
NM_002691.4(POLD1):c.1977C>T (p.Ile659=) rs45605236 0.00290
NM_006662.3(SRCAP):c.3388C>T (p.Pro1130Ser) rs143519723 0.00290
NM_001257180.2(SLC20A2):c.933C>T (p.Tyr311=) rs115902470 0.00289
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478 0.00288
NM_007078.3(LDB3):c.2016C>T (p.Cys672=) rs45578640 0.00288
NM_015215.4(CAMTA1):c.2090C>T (p.Ala697Val) rs111266786 0.00288
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln) rs72677233 0.00287
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00287
NM_000053.4(ATP7B):c.2355+13T>G rs139211339 0.00286
NM_001386795.1(DTNA):c.243A>G (p.Leu81=) rs146923532 0.00285
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) rs13381670 0.00283
NM_001035.3(RYR2):c.1218G>A (p.Ser406=) rs147389346 0.00283
NM_001385012.1(NBEA):c.8413G>T (p.Val2805Phe) rs41292207 0.00283
NM_012179.4(FBXO7):c.693C>T (p.Ser231=) rs61752254 0.00283
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546 0.00283
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266 0.00282
NM_004525.3(LRP2):c.10937G>A (p.Arg3646His) rs142549310 0.00281
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00280
NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile) rs34203644 0.00280
NM_004525.3(LRP2):c.92C>T (p.Ala31Val) rs144829356 0.00280
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) rs147551003 0.00280
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00279
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) rs28932472 0.00279
NM_000257.4(MYH7):c.4788G>A (p.Ser1596=) rs146858930 0.00277
NM_000335.5(SCN5A):c.2436+12G>A rs41312419 0.00277
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155 0.00277
NM_004551.3(NDUFS3):c.591T>C (p.Pro197=) rs77113494 0.00277
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) rs61737803 0.00275
NM_182925.5(FLT4):c.2860C>T (p.Pro954Ser) rs34255532 0.00275
NM_000257.4(MYH7):c.4353+10G>A rs202205780 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_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222 0.00274
NM_003227.4(TFR2):c.1473G>A (p.Glu491=) rs139178017 0.00274
NM_016373.4(WWOX):c.1134C>T (p.Asn378=) rs201088847 0.00274
NM_016729.3(FOLR1):c.292C>T (p.Arg98Trp) rs76191655 0.00274
NM_020822.3(KCNT1):c.333G>A (p.Ser111=) rs56008253 0.00274
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser) rs201733037 0.00274
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=) rs17850194 0.00273
NM_004364.5(CEBPA):c.402G>A (p.Ala134=) rs752254340 0.00273
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00272
NM_001943.5(DSG2):c.2211C>T (p.Gly737=) rs74578148 0.00272
NM_001943.5(DSG2):c.2886T>G (p.Ile962Met) rs79229040 0.00271
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) rs45550635 0.00271
NM_001286577.2(C2CD3):c.5653T>C (p.Ser1885Pro) rs142277857 0.00270
NM_001626.6(AKT2):c.93C>T (p.Ser31=) rs35588791 0.00270
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926 0.00270
NM_002206.3(ITGA7):c.2569G>A (p.Gly857Ser) rs149081471 0.00270
NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met) rs35960726 0.00270
NM_001308093.3(GATA4):c.825C>T (p.Cys275=) rs55980825 0.00269
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_001003841.3(SLC6A19):c.984C>T (p.Arg328=) rs140296083 0.00267
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His) rs181104321 0.00267
NM_014000.3(VCL):c.3258+10A>T rs71579379 0.00267
NM_133379.5(TTN):c.14754T>G (p.Pro4918=) rs72648908 0.00267
NM_000213.5(ITGB4):c.4008C>T (p.Asp1336=) rs61735288 0.00266
NM_001358530.2(MOCS1):c.124-69G>A rs45487695 0.00266
NM_003047.5(SLC9A1):c.1356C>T (p.Ile452=) rs35607809 0.00265
NM_033026.6(PCLO):c.14871C>T (p.Ser4957=) rs117776963 0.00265
NM_182919.4(TICAM1):c.1702G>A (p.Ala568Thr) rs143679494 0.00265
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) rs77144743 0.00264
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811 0.00264
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser) rs140824939 0.00264
NM_001958.5(EEF1A2):c.1266C>A (p.Gly422=) rs202102758 0.00263
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949 0.00262
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala) rs77968867 0.00262
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500 0.00262
NM_000257.4(MYH7):c.2162+4G>A rs145738465 0.00261
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_001122681.2(SH3BP2):c.1429C>T (p.Arg477Trp) rs148761331 0.00261
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240 0.00261
NM_020297.4(ABCC9):c.2093-7T>C rs185235724 0.00261
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) rs149758808 0.00261
NM_006947.4(SRP72):c.58C>T (p.Arg20Trp) rs111673705 0.00260
NM_002230.4(JUP):c.2025T>C (p.His675=) rs140670556 0.00259
NM_002693.3(POLG):c.948G>A (p.Lys316=) rs61756401 0.00259
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409 0.00259
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00259
NM_001008537.3(NEXMIF):c.4246C>T (p.Pro1416Ser) rs143577015 0.00258
NM_001429.4(EP300):c.865A>G (p.Met289Val) rs2230111 0.00258
NM_002230.4(JUP):c.1159-13C>A rs201627219 0.00258
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689 0.00258
NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr) rs72648913 0.00258
NM_000271.5(NPC1):c.463+19A>G rs117512587 0.00257
NM_005157.6(ABL1):c.740A>G (p.Lys247Arg) rs34549764 0.00257
NM_030665.4(RAI1):c.610C>T (p.Pro204Ser) rs138332224 0.00257
NM_001141919.2(XG):c.455-3C>T rs202025841 0.00256
NM_014000.3(VCL):c.2025G>A (p.Val675=) rs140766884 0.00256
NM_031448.6(C19orf12):c.413A>G (p.Gln138Arg) rs73023451 0.00256
NM_001267550.2(TTN):c.84893G>A (p.Arg28298Gln) rs187270666 0.00255
NM_004958.4(MTOR):c.985G>A (p.Ala329Thr) rs35903812 0.00255
NM_020297.4(ABCC9):c.407-14C>A rs201279882 0.00255
NM_198253.3(TERT):c.1812A>G (p.Ala604=) rs33959226 0.00255
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=) rs138498780 0.00254
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890 0.00253
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_006502.3(POLH):c.626G>T (p.Gly209Val) rs2307456 0.00253
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser) rs143877693 0.00253
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) rs61752327 0.00253
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461 0.00253
NM_001035.3(RYR2):c.5613C>T (p.Asp1871=) rs116774472 0.00252
NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr) rs187194973 0.00252
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg) rs41278047 0.00251
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) rs1801696 0.00249
NM_003560.4(PLA2G6):c.972G>A (p.Ala324=) rs147755372 0.00249
NM_014339.7(IL17RA):c.1174G>T (p.Val392Leu) rs146478431 0.00249
NM_018706.7(DHTKD1):c.628G>T (p.Ala210Ser) rs146741810 0.00249
NM_000276.4(OCRL):c.439+3A>G rs61752971 0.00248
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00247
NM_000718.4(CACNA1B):c.4473+17G>A rs80100052 0.00247
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00247
NM_022489.4(INF2):c.2458C>T (p.Arg820Trp) rs79327775 0.00247
NM_032119.4(ADGRV1):c.17856+11G>A rs187039736 0.00247
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser) rs77758574 0.00246
NM_007315.4(STAT1):c.796G>A (p.Val266Ile) rs41473544 0.00246
NM_000389.5(CDKN1A):c.251G>A (p.Arg84Gln) rs34916193 0.00245
NM_001005242.3(PKP2):c.1171-11T>C rs183414126 0.00245
NM_001171.6(ABCC6):c.1284C>T (p.Asn428=) rs57499497 0.00245
NM_015346.4(ZFYVE26):c.4854C>T (p.Leu1618=) rs151287975 0.00245
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077 0.00244
NM_001267550.2(TTN):c.96501T>C (p.Ser32167=) rs139223781 0.00244
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_138711.6(PPARG):c.1362C>T (p.Ile454=) rs149367249 0.00244
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00243
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00243
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260 0.00243
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_006432.5(NPC2):c.*9T>C rs80216539 0.00243
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898 0.00242
NM_004415.4(DSP):c.7995G>A (p.Thr2665=) rs35379048 0.00241
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=) rs142812510 0.00240
NM_005138.3(SCO2):c.201C>T (p.Phe67=) rs61748568 0.00240
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_013266.4(CTNNA3):c.1133G>A (p.Arg378His) rs143682596 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_000257.4(MYH7):c.3853+7C>T rs45467397 0.00239
NM_001035.3(RYR2):c.6441-19C>T rs140440259 0.00239
NM_015378.4(VPS13D):c.7294C>T (p.Arg2432Cys) rs150598243 0.00239
NM_170606.3(KMT2C):c.5587C>G (p.Pro1863Ala) rs142070663 0.00239
NM_000335.5(SCN5A):c.1890+14G>A rs145427253 0.00238
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys) rs72629785 0.00238
NM_003482.4(KMT2D):c.6573G>A (p.Thr2191=) rs202085637 0.00238
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00237
NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu) rs148331180 0.00237
NM_001605.3(AARS1):c.1672-4T>A rs187509039 0.00236
NM_001903.5(CTNNA1):c.1748-16G>C rs187293176 0.00236
NM_021783.5(EDA2R):c.334C>T (p.Pro112Ser) rs12837393 0.00236
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839 0.00235
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=) rs116604145 0.00235
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys) rs72648981 0.00235
NM_003073.5(SMARCB1):c.628+13C>T rs184021903 0.00235
NM_004168.4(SDHA):c.313-19G>T rs185555941 0.00235
NM_144573.4(NEXN):c.1659+18C>G rs147422621 0.00235
NM_001267550.2(TTN):c.96108G>A (p.Val32036=) rs372773283 0.00234
NM_001385012.1(NBEA):c.282G>A (p.Thr94=) rs201561325 0.00234
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953 0.00233
NM_002972.4(SBF1):c.3904+5C>G rs115032856 0.00233
NM_015107.3(PHF8):c.2720G>A (p.Arg907His) rs142630105 0.00233
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu) rs150563155 0.00233
NM_001371623.1(TCOF1):c.122C>T (p.Ala41Val) rs56180593 0.00232
NM_002471.4(MYH6):c.1275C>T (p.Ile425=) rs61742470 0.00232
NM_001080467.3(MYO5B):c.1057-4A>G rs138582195 0.00231
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=) rs56329646 0.00231
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00230
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231 0.00229
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=) rs147021687 0.00229
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577 0.00228
NM_001105206.3(LAMA4):c.5450T>C (p.Ile1817Thr) rs144482486 0.00228
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631 0.00228
NM_014000.3(VCL):c.1671C>T (p.Asp557=) rs137877092 0.00228
NM_001903.5(CTNNA1):c.2013G>A (p.Ala671=) rs28363488 0.00226
NM_014391.3(ANKRD1):c.208-16C>T rs79793575 0.00226
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00225
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser) rs149748934 0.00224
NM_001035.3(RYR2):c.2204-16G>T rs368648602 0.00223
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089 0.00223
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=) rs55696153 0.00223
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 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_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_001003841.3(SLC6A19):c.775-5C>T rs149379208 0.00222
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238 0.00222
NM_000527.5(LDLR):c.2390-16G>A rs183496025 0.00221
NM_003482.4(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661 0.00220
NM_174936.4(PCSK9):c.753C>T (p.Arg251=) rs28385710 0.00219
NM_000214.3(JAG1):c.886+19A>T rs200311847 0.00218
NM_000379.4(XDH):c.3536T>C (p.Ile1179Thr) rs139515054 0.00218
NM_000428.3(LTBP2):c.2668G>A (p.Glu890Lys) rs141783623 0.00218
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys) rs181347577 0.00218
NM_004281.4(BAG3):c.-17G>A rs200388926 0.00218
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile) rs74360232 0.00218
NM_020433.5(JPH2):c.380-6C>T rs201197277 0.00218
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544 0.00217
NM_000718.4(CACNA1B):c.4959G>A (p.Thr1653=) rs150165282 0.00217
NM_001267550.2(TTN):c.1398+18A>G rs72647849 0.00217
NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val) rs200840285 0.00217
NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln) rs34935550 0.00217
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399 0.00216
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=) rs146810749 0.00215
NM_000213.5(ITGB4):c.2929C>T (p.Arg977Cys) rs145976111 0.00214
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=) rs370286749 0.00214
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=) rs368168812 0.00214
NM_001303.4(COX10):c.929-7C>T rs62052075 0.00214
NM_004168.4(SDHA):c.1623G>A (p.Lys541=) rs35502109 0.00214
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141 0.00213
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236 0.00213
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys) rs41289967 0.00213
NM_000077.5(CDKN2A):c.150+37G>C rs45456595 0.00212
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00212
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239 0.00212
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00212
NM_001035.3(RYR2):c.6555+8C>T rs1759122 0.00211
NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=) rs144520412 0.00211
NM_015967.8(PTPN22):c.1108C>A (p.His370Asn) rs72650671 0.00211
NM_133379.5(TTN):c.11849T>C (p.Ile3950Thr) rs72647897 0.00211
NM_152266.5(FAAP24):c.635C>T (p.Thr212Met) rs148106526 0.00211
NM_170707.4(LMNA):c.1761G>A (p.Leu587=) rs80356813 0.00210
NM_020297.4(ABCC9):c.3768T>C (p.Leu1256=) rs150303433 0.00209
NM_000170.3(GLDC):c.1156-7C>G rs150095531 0.00208
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_001005242.3(PKP2):c.972G>A (p.Ala324=) rs142636176 0.00208
NM_000292.3(PHKA2):c.1398G>A (p.Ala466=) rs146631734 0.00207
NM_000335.5(SCN5A):c.354C>T (p.His118=) rs45533640 0.00207
NM_144670.6(A2ML1):c.158C>G (p.Thr53Arg) rs79149293 0.00207
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) rs72650019 0.00206
NM_001267550.2(TTN):c.87707-4G>T rs201770959 0.00206
NM_000538.4(RFXAP):c.24G>A (p.Glu8=) rs540467033 0.00205
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155 0.00205
NM_001105206.3(LAMA4):c.924T>C (p.His308=) rs143580603 0.00205
NM_001267550.2(TTN):c.1938+10G>C rs190935632 0.00205
NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly) rs200513156 0.00204
NM_001267550.2(TTN):c.426C>T (p.Ala142=) rs56137037 0.00204
NM_001035.3(RYR2):c.10324-4A>G rs72751287 0.00203
NM_001267550.2(TTN):c.1398+16C>T rs144043280 0.00203
NM_001202.6(BMP4):c.76T>C (p.Leu26=) rs74486266 0.00202
NM_016360.4(TACO1):c.498T>C (p.His166=) rs17549732 0.00202
NM_012232.6(CAVIN1):c.356T>A (p.Val119Asp) rs146547678 0.00201
NM_001903.5(CTNNA1):c.589-5T>C rs186236339 0.00200
NM_138927.4(SON):c.3326C>T (p.Ala1109Val) rs144188863 0.00200
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052 0.00199
NM_001943.5(DSG2):c.2484T>C (p.Asp828=) rs201051252 0.00199
NM_013266.4(CTNNA3):c.33C>T (p.Ile11=) rs61735044 0.00199
NM_133379.5(TTN):c.10917C>T (p.Gly3639=) rs140804168 0.00199
NM_000258.3(MYL3):c.130-14G>T rs192329378 0.00198
NM_004168.4(SDHA):c.1551+16C>T rs184954254 0.00198
NM_032578.4(MYPN):c.1893G>A (p.Arg631=) rs145440469 0.00198
NM_004415.4(DSP):c.4383G>A (p.Glu1461=) rs140029036 0.00197
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) rs149037185 0.00197
NM_182746.3(MCM4):c.1406G>C (p.Ser469Thr) rs117063344 0.00197
NM_004525.3(LRP2):c.12380G>A (p.Arg4127His) rs142934522 0.00196
NM_015488.5(PNKD):c.236+1180G>A rs148049021 0.00196
NM_024407.5(NDUFS7):c.153C>T (p.Ala51=) rs140236960 0.00196
NM_014008.5(CCDC22):c.715G>A (p.Glu239Lys) rs199809018 0.00195
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=) rs45522138 0.00194
NM_001110792.2(MECP2):c.618C>T (p.Ser206=) rs61749711 0.00194
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp) rs139134727 0.00194
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) rs61731920 0.00194
NM_025074.7(FRAS1):c.5374G>A (p.Ala1792Thr) rs150916370 0.00194
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln) rs7437875 0.00193
NM_000320.3(QDPR):c.630-17T>C rs201581320 0.00193
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln) rs72648969 0.00193
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_020297.4(ABCC9):c.1677G>A (p.Ala559=) rs76458291 0.00193
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_003482.4(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011 0.00192
NM_080425.4(GNAS):c.484A>G (p.Met162Val) rs138731520 0.00192
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_001193375.3(NDUFA11):c.460G>T (p.Glu154Ter) rs73920081 0.00191
NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=) rs113380721 0.00191
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00190
NM_001943.5(DSG2):c.6G>A (p.Ala2=) rs368809971 0.00190
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu) rs2230850 0.00189
NM_001267550.2(TTN):c.5823A>G (p.Arg1941=) rs149668487 0.00189
NM_024426.6(WT1):c.123G>C (p.Pro41=) rs555140661 0.00189
NM_000249.4(MLH1):c.790+10A>G rs182733777 0.00188
NM_000718.4(CACNA1B):c.4308+10C>T rs144980930 0.00188
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877 0.00188
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00188
NM_001005242.3(PKP2):c.951G>A (p.Ala317=) rs61729382 0.00187
NM_000096.4(CP):c.2793A>G (p.Leu931=) rs34987997 0.00186
NM_015352.2(POFUT1):c.937G>A (p.Glu313Lys) rs35968884 0.00185
NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp) rs55857742 0.00184
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722 0.00184
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=) rs142891278 0.00183
NM_004415.4(DSP):c.1488G>A (p.Thr496=) rs35820473 0.00183
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00182
NM_002693.3(POLG):c.1174C>G (p.Leu392Val) rs145289229 0.00182
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458 0.00182
NM_020822.3(KCNT1):c.3383C>T (p.Ala1128Val) rs143704418 0.00182
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553 0.00181
NM_000146.4(FTL):c.522C>T (p.His174=) rs73046709 0.00180
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys) rs138731505 0.00180
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896 0.00180
NM_000384.3(APOB):c.3426G>A (p.Ser1142=) rs142448733 0.00180
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485 0.00180
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) rs191484894 0.00180
NM_004168.4(SDHA):c.1911C>T (p.Val637=) rs11557098 0.00180
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163 0.00179
NM_005477.3(HCN4):c.3350C>T (p.Pro1117Leu) rs140402087 0.00179
NM_033118.4(MYLK2):c.1295+4C>A rs113936360 0.00179
NM_000170.3(GLDC):c.1927-9A>G rs41281773 0.00178
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700 0.00178
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=) rs56324602 0.00178
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=) rs56293906 0.00178
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser) rs141235720 0.00178
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00178
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) rs149146258 0.00178
NM_001927.4(DES):c.324G>A (p.Glu108=) rs138677215 0.00177
NM_000222.3(KIT):c.2805T>A (p.Ile935=) rs72549296 0.00176
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592 0.00176
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=) rs34025424 0.00176
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248 0.00175
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=) rs199714102 0.00175
NM_004357.5(CD151):c.84+13C>T rs201750899 0.00175
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748 0.00174
NM_177438.3(DICER1):c.3972G>A (p.Lys1324=) rs45562437 0.00174
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542 0.00174
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010 0.00173
NM_001267550.2(TTN):c.29963-13A>G rs72650008 0.00173
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00172
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00172
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr) rs141138349 0.00172
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) rs149109801 0.00172
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294 0.00171
NM_006279.5(ST3GAL3):c.618C>T (p.Arg206=) rs115003742 0.00171
NM_001267550.2(TTN):c.8902+14T>A rs13388274 0.00170
NM_004606.5(TAF1):c.4708C>T (p.Leu1570=) rs142496099 0.00170
NM_015087.5(SPART):c.361G>T (p.Asp121Tyr) rs146398746 0.00170
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_016327.3(UPB1):c.917-1G>A rs143493067 0.00169
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter) rs71352737 0.00168
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636 0.00167
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00166
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00166
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00166
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00166
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00166
NM_004304.5(ALK):c.3594C>T (p.Leu1198=) rs56071005 0.00166
NM_015268.4(DNAJC13):c.5684C>T (p.Thr1895Met) rs145242123 0.00166
NM_000256.3(MYBPC3):c.2905+35A>G rs11570107 0.00164
NM_000384.3(APOB):c.3279C>G (p.Thr1093=) rs72653075 0.00163
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu) rs151071780 0.00163
NM_002471.4(MYH6):c.2928+5G>A rs28730772 0.00163
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu) rs35641267 0.00163
NM_198253.3(TERT):c.1574-16G>C rs79698601 0.00163
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_000426.4(LAMA2):c.1308T>G (p.Gly436=) rs41285286 0.00162
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318 0.00162
NM_001159699.2(FHL1):c.489C>T (p.Asp163=) rs149670651 0.00162
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083 0.00162
NM_001099274.3(TINF2):c.74G>C (p.Gly25Ala) rs202093758 0.00161
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr) rs144668626 0.00161
NM_004006.3(DMD):c.1483-7C>G rs112463388 0.00161
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile) rs149871493 0.00161
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=) rs184389316 0.00160
NM_001931.5(DLAT):c.570A>G (p.Gln190=) rs143107853 0.00160
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_015909.4(NBAS):c.3928A>G (p.Thr1310Ala) rs35489395 0.00160
NM_022114.4(PRDM16):c.2452G>A (p.Gly818Ser) rs201904226 0.00160
NM_130797.4(DPP6):c.1711A>C (p.Lys571Gln) rs140460765 0.00160
NM_152424.4(AMER1):c.2651C>T (p.Pro884Leu) rs201092215 0.00160
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met) rs145988230 0.00159
NM_001943.5(DSG2):c.1652-12C>T rs140850369 0.00159
NM_002691.4(POLD1):c.80A>T (p.Asp27Val) rs150066950 0.00159
NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala) rs200055351 0.00159
NM_032193.4(RNASEH2C):c.468G>T (p.Ala156=) rs61736590 0.00159
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_001035.3(RYR2):c.4605G>A (p.Pro1535=) rs201916326 0.00158
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639 0.00158
NM_003000.3(SDHB):c.300T>C (p.Ser100=) rs11541235 0.00157
NM_005477.3(HCN4):c.1518C>T (p.Tyr506=) rs139590882 0.00157
NM_018668.5(VPS33B):c.1166G>A (p.Arg389Gln) rs145070485 0.00157
NM_022114.4(PRDM16):c.2506G>A (p.Gly836Ser) rs114204766 0.00157
NM_033337.3(CAV3):c.336C>T (p.Ile112=) rs139985460 0.00157
NM_001126128.2(PROK2):c.84C>G (p.Ala28=) rs372623686 0.00156
NM_004415.4(DSP):c.1920C>T (p.Ile640=) rs74806300 0.00156
NM_001845.6(COL4A1):c.1000-5T>G rs75711155 0.00155
NM_152416.4(NDUFAF6):c.663A>G (p.Pro221=) rs193102273 0.00155
NM_000527.5(LDLR):c.1706-10G>A rs17248882 0.00154
NM_001267550.2(TTN):c.36676A>G (p.Lys12226Glu) rs200815663 0.00154
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter) rs147622517 0.00154
NM_032578.4(MYPN):c.1104C>T (p.Gly368=) rs144764983 0.00154
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282 0.00153
NM_004006.3(DMD):c.8571T>C (p.Thr2857=) rs72466570 0.00153
NM_022114.4(PRDM16):c.201G>A (p.Pro67=) rs199614349 0.00153
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00152
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys) rs145709687 0.00152
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00151
NM_021167.5(GATAD1):c.762G>A (p.Gly254=) rs139637606 0.00151
NM_022114.4(PRDM16):c.3102C>T (p.Asn1034=) rs199853370 0.00151
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=) rs139590550 0.00151
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564 0.00150
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_004006.3(DMD):c.2971G>C (p.Glu991Gln) rs72468667 0.00150
NM_032578.4(MYPN):c.1246-19G>A rs75739924 0.00150
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00149
NM_000553.6(WRN):c.355+4G>C rs145764920 0.00149
NM_177924.5(ASAH1):c.1004C>T (p.Thr335Met) rs147233112 0.00148
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00147
NM_000363.5(TNNI3):c.109-17C>A rs139150276 0.00147
NM_000875.5(IGF1R):c.1336A>G (p.Met446Val) rs117440569 0.00147
NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu) rs189438534 0.00147
NM_001940.4(ATN1):c.2785G>A (p.Ala929Thr) rs143844103 0.00147
NM_006214.4(PHYH):c.356C>T (p.Thr119Met) rs34571629 0.00147
NM_023083.4(CAPN10):c.959C>T (p.Pro320Leu) rs140681762 0.00147
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn) rs146366996 0.00147
NM_001035.3(RYR2):c.14809-20C>T rs141119268 0.00146
NM_001035.3(RYR2):c.4596+12G>A rs148557427 0.00146
NM_001303052.2(MYT1L):c.2532G>A (p.Leu844=) rs191820268 0.00146
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu) rs147688221 0.00146
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009 0.00146
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976 0.00146
NM_001267550.2(TTN):c.40587A>G (p.Glu13529=) rs370597107 0.00145
NM_014000.3(VCL):c.1907A>G (p.His636Arg) rs71579374 0.00145
NM_004281.4(BAG3):c.1587C>T (p.Ala529=) rs149358702 0.00144
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly) rs560874115 0.00144
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993 0.00143
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln) rs121912280 0.00143
NM_001035.3(RYR2):c.9067+12C>T rs112365440 0.00143
NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=) rs186541002 0.00143
NM_004360.5(CDH1):c.1272C>T (p.Val424=) rs61756284 0.00143
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met) rs145804755 0.00143
NM_033305.3(VPS13A):c.2170+13T>C rs183087425 0.00143
NM_004281.4(BAG3):c.549C>G (p.Ser183=) rs112929734 0.00141
NM_015967.8(PTPN22):c.197-4A>G rs72650669 0.00141
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_138927.4(SON):c.1664C>T (p.Thr555Met) rs13049658 0.00141
NM_014727.3(KMT2B):c.2268_2279dup (p.Gln759_Pro762dup) rs564202766 0.00140
NM_015570.4(AUTS2):c.611A>G (p.Glu204Gly) rs149961458 0.00140
NM_020822.3(KCNT1):c.3390G>A (p.Ala1130=) rs77912754 0.00140
NM_144573.4(NEXN):c.864+12T>A rs188416492 0.00140
NM_001003841.3(SLC6A19):c.156C>T (p.Leu52=) rs146382764 0.00139
NM_015488.5(PNKD):c.265G>A (p.Gly89Arg) rs147259983 0.00139
NM_000159.4(GCDH):c.1011A>G (p.Ala337=) rs2229460 0.00138
NM_001165963.4(SCN1A):c.68C>T (p.Ala23Val) rs139397227 0.00138
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438 0.00138
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=) rs202185465 0.00138
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_198525.3(KIF7):c.3944C>T (p.Pro1315Leu) rs150248985 0.00138
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln) rs145720191 0.00137
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu) rs61758732 0.00137
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln) rs142874389 0.00137
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285 0.00137
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715 0.00137
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00136
NM_004100.5(EYA4):c.783G>A (p.Thr261=) rs17854076 0.00136
NM_007078.3(LDB3):c.1422G>A (p.Ser474=) rs142625982 0.00136
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945 0.00135
NM_000760.4(CSF3R):c.1919C>T (p.Thr640Ile) rs121918426 0.00135
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) rs201168500 0.00135
NM_007315.4(STAT1):c.1222-5T>C rs191364028 0.00135
NM_032193.4(RNASEH2C):c.-10A>G rs77371161 0.00135
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg) rs201158906 0.00134
NM_006514.4(SCN10A):c.4568G>A (p.Cys1523Tyr) rs142217269 0.00134
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00133
NM_001130438.3(SPTAN1):c.7392G>A (p.Ala2464=) rs149318543 0.00133
NM_001267550.2(TTN):c.16621+7A>T rs10200398 0.00133
NM_001267550.2(TTN):c.17183-9T>C rs141687561 0.00133
NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val) rs72650030 0.00133
NM_001625.4(AK2):c.49C>G (p.Arg17Gly) rs138577419 0.00133
NM_001783.4(CD79A):c.419C>A (p.Thr140Asn) rs148797987 0.00133
NM_004415.4(DSP):c.6678T>A (p.Gly2226=) rs149070106 0.00133
NM_006267.5(RANBP2):c.4498G>C (p.Ala1500Pro) rs145284139 0.00133
NM_016169.4(SUFU):c.910+14C>T rs202247757 0.00133
NM_020822.3(KCNT1):c.435-17G>A rs140115987 0.00133
NM_201384.3(PLEC):c.9333G>A (p.Gly3111=) rs188739870 0.00133
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_001111.5(ADAR):c.1926T>C (p.His642=) rs150171059 0.00132
NM_001267550.2(TTN):c.40223A>G (p.Glu13408Gly) rs183950862 0.00132
NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val) rs146767076 0.00132
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) rs187327463 0.00132
NM_001447.3(FAT2):c.3399C>A (p.Asn1133Lys) rs138913417 0.00132
NM_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014 0.00132
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230 0.00131
NM_001846.4(COL4A2):c.4578G>A (p.Ala1526=) rs186888528 0.00131
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_024408.4(NOTCH2):c.6094C>A (p.His2032Asn) rs143236410 0.00131
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136 0.00131
NM_000925.4(PDHB):c.198A>G (p.Ala66=) rs138621975 0.00130
NM_001267550.2(TTN):c.29541C>T (p.Phe9847=) rs56812642 0.00130
NM_002471.4(MYH6):c.3979-8C>G rs555976716 0.00130
NM_013266.4(CTNNA3):c.1453A>T (p.Thr485Ser) rs140913916 0.00130
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_005186.4(CAPN1):c.1474G>A (p.Gly492Arg) rs17883283 0.00129
NM_006306.4(SMC1A):c.1545+4A>C rs377270943 0.00129
NM_000371.4(TTR):c.360C>T (p.Ser120=) rs150127220 0.00128
NM_001267550.2(TTN):c.36285C>T (p.His12095=) rs201184203 0.00128
NM_001943.5(DSG2):c.1875G>C (p.Leu625=) rs35743180 0.00128
NM_177438.3(DICER1):c.4891T>G (p.Ser1631Ala) rs145551486 0.00128
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_001388419.1(KALRN):c.5182+21760C>T rs56407180 0.00127
NM_002025.4(AFF2):c.2656C>G (p.Pro886Ala) rs151043891 0.00127
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val) rs41562713 0.00126
NM_001199107.2(TBC1D24):c.-7C>T rs199852092 0.00126
NM_001386795.1(DTNA):c.604-14G>T rs397517447 0.00126
NM_002693.3(POLG):c.1585+11T>C rs201566815 0.00126
NM_004415.4(DSP):c.2346C>T (p.Asp782=) rs139071827 0.00126
NM_005249.5(FOXG1):c.447C>T (p.Ala149=) rs112803404 0.00126
NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys) rs201797790 0.00125
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165 0.00125
NM_007078.3(LDB3):c.689+10G>A rs45563234 0.00125
NM_133379.5(TTN):c.14214C>T (p.Thr4738=) rs147513899 0.00125
NM_004415.4(DSP):c.522T>C (p.Cys174=) rs144781697 0.00124
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751 0.00123
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00123
NM_017654.4(SAMD9):c.4724G>A (p.Gly1575Glu) rs148724199 0.00123
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683 0.00122
NM_001267550.2(TTN):c.105183G>A (p.Ala35061=) rs371075036 0.00122
NM_006432.5(NPC2):c.88G>A (p.Val30Met) rs151220873 0.00122
NM_000094.4(COL7A1):c.2367C>T (p.Ser789=) rs139521707 0.00121
NM_004517.4(ILK):c.631C>T (p.Arg211Cys) rs140322345 0.00121
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_177438.3(DICER1):c.5145C>T (p.Leu1715=) rs139500905 0.00121
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met) rs148123045 0.00120
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883 0.00120
NM_033118.4(MYLK2):c.1584G>A (p.Arg528=) rs55807353 0.00120
NM_001105206.3(LAMA4):c.1475T>A (p.Leu492His) rs3752579 0.00119
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=) rs138770431 0.00119
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile) rs150860808 0.00119
NM_018105.3(THAP1):c.71+9C>A rs200209986 0.00119
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) rs2230210 0.00118
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu) rs141493373 0.00118
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr) rs187925021 0.00118
NM_004415.4(DSP):c.939+17C>T rs140481492 0.00118
NM_178452.6(DNAAF1):c.1031-5A>T rs79772571 0.00118
NM_000265.7(NCF1):c.292T>G (p.Cys98Gly) rs144018361 0.00117
NM_000335.5(SCN5A):c.4297-14T>C rs56104887 0.00117
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=) rs193922628 0.00117
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys) rs72648939 0.00117
NM_001267550.2(TTN):c.44529C>T (p.His14843=) rs55973744 0.00117
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln) rs200212521 0.00117
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=) rs72648255 0.00117
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387 0.00117
NM_004168.4(SDHA):c.1368G>A (p.Ser456=) rs149875171 0.00117
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492 0.00117
NM_022114.4(PRDM16):c.2290G>A (p.Val764Met) rs149333409 0.00117
NM_022114.4(PRDM16):c.3621A>T (p.Glu1207Asp) rs199972068 0.00117
NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val) rs2227871 0.00116
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_001199138.2(NLRC4):c.2614+12A>T rs187140134 0.00116
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958 0.00116
NM_001845.6(COL4A1):c.904-9C>T rs201481886 0.00116
NM_002471.4(MYH6):c.1122G>A (p.Ala374=) rs148091079 0.00116
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00116
NM_005477.3(HCN4):c.1356C>T (p.Ser452=) rs148453034 0.00116
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787 0.00116
NM_182914.3(SYNE2):c.19248C>G (p.Pro6416=) rs150363140 0.00116
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile) rs140769712 0.00115
NM_000337.6(SGCD):c.213G>A (p.Arg71=) rs74846539 0.00115
NM_000505.4(F12):c.1027G>C (p.Ala343Pro) rs183643295 0.00115
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 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_000038.6(APC):c.423-17T>A rs534684461 0.00114
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=) rs138968178 0.00114
NM_145046.5(CALR3):c.398-6T>C rs376479901 0.00114
NM_173560.4(RFX6):c.223G>C (p.Glu75Gln) rs201996097 0.00114
NM_000143.4(FH):c.-11C>T rs200942733 0.00113
NM_000492.4(CFTR):c.4242+10T>C rs138642693 0.00113
NM_001267550.2(TTN):c.33581-18T>C rs148392677 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_001375834.1(WIPF1):c.1037C>T (p.Pro346Leu) rs149434153 0.00113
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu) rs45495192 0.00113
NM_020297.4(ABCC9):c.798T>C (p.Asp266=) rs138356189 0.00113
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) rs116998555 0.00113
NM_174936.4(PCSK9):c.525C>T (p.Asp175=) rs148612296 0.00113
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00112
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) rs41292592 0.00112
NM_002087.4(GRN):c.970G>A (p.Ala324Thr) rs63750541 0.00112
NM_133379.5(TTN):c.14492G>A (p.Cys4831Tyr) rs150615457 0.00112
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00111
NM_001267550.2(TTN):c.49371A>T (p.Leu16457=) rs146163169 0.00110
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) rs55663050 0.00110
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys) rs140383655 0.00110
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=) rs55832587 0.00109
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro) rs72648930 0.00109
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=) rs200088963 0.00109
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=) rs55956577 0.00109
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00109
NM_004006.3(DMD):c.7571G>A (p.Arg2524His) rs151244052 0.00109
NM_015559.3(SETBP1):c.3299A>G (p.His1100Arg) rs149162154 0.00109
NM_000384.3(APOB):c.2068-4T>A rs41291161 0.00108
NM_001267550.2(TTN):c.91565-13C>T rs200847757 0.00108
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr) rs148617456 0.00108
NM_001267550.2(TTN):c.95148C>T (p.Thr31716=) rs140663434 0.00108
NM_021939.4(FKBP10):c.1256C>T (p.Ser419Leu) rs146422412 0.00108
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) rs34489989 0.00108
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met) rs150661999 0.00107
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln) rs141828689 0.00107
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=) rs141671123 0.00107
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_001042472.3(ABHD12):c.769C>T (p.Arg257Trp) rs41306784 0.00106
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477 0.00106
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00106
NM_015215.4(CAMTA1):c.4007C>T (p.Thr1336Ile) rs137974312 0.00106
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu) rs144968313 0.00106
NM_001035.3(RYR2):c.1143C>T (p.Ser381=) rs368844286 0.00105
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro) rs138760432 0.00105
NM_201384.3(PLEC):c.2844C>T (p.Pro948=) rs200482255 0.00105
NM_000271.5(NPC1):c.66A>G (p.Ser22=) rs144415945 0.00104
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500 0.00104
NM_001267550.2(TTN):c.24150C>T (p.Ser8050=) rs185062935 0.00104
NM_001267550.2(TTN):c.29605-12T>C rs143352892 0.00104
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=) rs188584219 0.00104
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840 0.00104
NM_004304.5(ALK):c.4785C>T (p.Ala1595=) rs76150405 0.00104
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999 0.00104
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00103
NM_001267550.2(TTN):c.101406C>G (p.Val33802=) rs55802460 0.00103
NM_024306.5(FA2H):c.537G>A (p.Leu179=) rs75711361 0.00103
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser) rs878852992 0.00102
NM_000527.5(LDLR):c.694+25C>T rs199540175 0.00102
NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met) rs201777030 0.00102
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) rs201562505 0.00102
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val) rs55634791 0.00102
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00102
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_001029896.2(WDR45):c.351C>T (p.Ile117=) rs140596058 0.00101
NM_001080414.4(CCDC88C):c.2456A>G (p.Asp819Gly) rs61743881 0.00101
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=) rs72646852 0.00101
NM_001267550.2(TTN):c.82497C>T (p.Thr27499=) rs199629314 0.00101
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933 0.00101
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=) rs148700620 0.00099
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=) rs56026369 0.00099
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile) rs72649002 0.00099
NM_001267550.2(TTN):c.39296-13C>T rs372380420 0.00099
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) rs143030960 0.00099
NM_020433.5(JPH2):c.1971G>A (p.Glu657=) rs142333841 0.00099
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311 0.00098
NM_002691.4(POLD1):c.1620C>T (p.Gly540=) rs140216790 0.00098
NM_013266.4(CTNNA3):c.844-15G>A rs201089736 0.00098
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=) rs144122893 0.00097
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=) rs371480338 0.00097
NM_001267550.2(TTN):c.25704G>A (p.Arg8568=) rs150544093 0.00097
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=) rs72646867 0.00097
NM_004168.4(SDHA):c.1396G>A (p.Ala466Thr) rs111387770 0.00097
NM_030665.4(RAI1):c.840_843del (p.Gln280fs) rs775735568 0.00097
NM_000256.3(MYBPC3):c.2914C>T (p.Arg972Trp) rs193922382 0.00096
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840 0.00096
NM_000593.6(TAP1):c.1976G>A (p.Arg659Gln) rs121917702 0.00096
NM_001170535.3(ATAD3A):c.604G>A (p.Glu202Lys) rs148455993 0.00096
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=) rs146402942 0.00096
NM_001267550.2(TTN):c.107961T>C (p.His35987=) rs377439315 0.00096
NM_015909.4(NBAS):c.4228A>G (p.Thr1410Ala) rs143724414 0.00096
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp) rs145643238 0.00096
NM_032578.4(MYPN):c.1460-14T>A rs201156035 0.00096
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117 0.00095
NM_001318510.2(ACSL4):c.806+3A>G rs183171123 0.00095
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu) rs56355310 0.00095
NM_001374736.1(DST):c.20438A>G (p.Asn6813Ser) rs199628430 0.00095
NM_001482.3(GATM):c.69+13C>T rs573273215 0.00095
NM_007078.3(LDB3):c.993G>A (p.Ala331=) rs140347820 0.00095
NM_014159.7(SETD2):c.3229A>G (p.Thr1077Ala) rs114719990 0.00095
NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=) rs142126065 0.00095
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His) rs138853909 0.00094
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=) rs372997298 0.00094
NM_001735.3(C5):c.3029C>T (p.Ala1010Val) rs34362143 0.00094
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876 0.00094
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu) rs146170087 0.00094
NM_182914.3(SYNE2):c.12572G>A (p.Gly4191Asp) rs145227848 0.00094
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) rs147549623 0.00093
NM_001267550.2(TTN):c.1246-16G>A rs72647847 0.00093
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00092
NM_000447.3(PSEN2):c.366G>A (p.Thr122=) rs148996705 0.00092
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362 0.00091
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_001267550.2(TTN):c.107766T>C (p.Gly35922=) rs147293964 0.00091
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=) rs72646842 0.00091
NM_002025.4(AFF2):c.496C>T (p.Pro166Ser) rs150996735 0.00091
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) rs138218523 0.00091
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00090
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln) rs138842207 0.00090
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=) rs55938627 0.00090
NM_001267550.2(TTN):c.25351+13C>G rs138362885 0.00090
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu) rs72646899 0.00090
NM_004387.4(NKX2-5):c.355G>T (p.Ala119Ser) rs137852684 0.00090
NM_006662.3(SRCAP):c.1559G>A (p.Ser520Asn) rs139339184 0.00090
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=) rs148848282 0.00090
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601 0.00089
NM_021167.5(GATAD1):c.558G>A (p.Thr186=) rs141932124 0.00089
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=) rs149260051 0.00089
NM_002227.4(JAK1):c.1951G>A (p.Val651Met) rs149968614 0.00088
NM_002234.4(KCNA5):c.634C>T (p.Arg212Cys) rs77281462 0.00088
NM_006432.5(NPC2):c.363+7G>A rs200463204 0.00088
NM_006929.5(SKIC2):c.3470C>T (p.Thr1157Met) rs201764098 0.00088
NM_032578.4(MYPN):c.2880T>G (p.Ser960=) rs146028308 0.00088
NM_001017995.3(SH3PXD2B):c.814G>A (p.Ala272Thr) rs201224113 0.00087
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991 0.00087
NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp) rs140417636 0.00086
NM_000523.4(HOXD13):c.617A>G (p.Tyr206Cys) rs147720746 0.00086
NM_000535.7(PMS2):c.251-20T>G rs149343081 0.00086
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met) rs201437752 0.00086
NM_001267550.2(TTN):c.95244C>T (p.Arg31748=) rs368243641 0.00086
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00086
NM_001737.5(C9):c.974C>T (p.Ala325Val) rs147068084 0.00086
NM_001904.4(CTNNB1):c.860A>G (p.Asn287Ser) rs35288908 0.00086
NM_006267.5(RANBP2):c.8599+16G>A rs145152325 0.00086
NM_014000.3(VCL):c.1572C>T (p.Ala524=) rs138566234 0.00086
NM_016203.4(PRKAG2):c.1584+7C>T rs111627309 0.00086
NM_000548.5(TSC2):c.2838-4A>G rs45517272 0.00085
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=) rs148391179 0.00085
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00084
NM_000384.3(APOB):c.4838G>C (p.Ser1613Thr) rs61742247 0.00083
NM_000548.5(TSC2):c.2979G>A (p.Thr993=) rs45517277 0.00083
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_004415.4(DSP):c.741G>A (p.Ala247=) rs2806234 0.00083
NM_145046.5(CALR3):c.245A>G (p.Lys82Arg) rs142951029 0.00083
NM_000276.4(OCRL):c.40-5C>T rs201211377 0.00082
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn) rs72648973 0.00082
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989 0.00082
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln) rs72648238 0.00082
NM_004369.4(COL6A3):c.1024G>A (p.Val342Met) rs111402193 0.00082
NM_004517.4(ILK):c.65A>G (p.Asn22Ser) rs114115159 0.00082
NM_007078.3(LDB3):c.466G>A (p.Ala156Thr) rs200596619 0.00082
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012 0.00081
NM_001267550.2(TTN):c.36701-16A>G rs577899845 0.00081
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=) rs193022702 0.00081
NM_005502.4(ABCA1):c.720+6T>C rs188308962 0.00081
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_007214.5(SEC63):c.340-7T>C rs1569557 0.00081
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=) rs371831553 0.00080
NM_152617.4(RNF168):c.529G>A (p.Glu177Lys) rs112513009 0.00080
NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys) rs144018942 0.00080
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00079
NM_001032221.6(STXBP1):c.1702+10C>T rs147607230 0.00079
NM_001267550.2(TTN):c.1537-4G>A rs56006378 0.00079
NM_002471.4(MYH6):c.4986G>A (p.Ala1662=) rs77416370 0.00079
NM_030787.4(CFHR5):c.1561T>A (p.Leu521Ile) rs35957013 0.00079
NM_001105206.3(LAMA4):c.2403G>A (p.Thr801=) rs142559688 0.00078
NM_001267550.2(TTN):c.13976A>G (p.Tyr4659Cys) rs34706803 0.00078
NM_001267550.2(TTN):c.54812-5A>G rs375343798 0.00078
NM_001267550.2(TTN):c.98683+7G>C rs141150066 0.00078
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met) rs141353229 0.00078
NM_002693.3(POLG):c.2853C>T (p.Tyr951=) rs41546712 0.00078
NM_024334.3(TMEM43):c.163-6T>A rs372434224 0.00078
NM_025074.7(FRAS1):c.1918C>T (p.Arg640Cys) rs147869493 0.00078
NM_001009944.3(PKD1):c.3380C>T (p.Pro1127Leu) rs145922241 0.00077
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) rs202017608 0.00077
NM_001927.4(DES):c.170C>T (p.Ser57Leu) rs372825868 0.00077
NM_006892.4(DNMT3B):c.73G>A (p.Gly25Arg) rs151128145 0.00077
NM_170707.4(LMNA):c.1489-16C>G rs201379016 0.00077
NM_201384.3(PLEC):c.7121G>A (p.Arg2374Gln) rs201417343 0.00077
NM_000335.5(SCN5A):c.2437-13C>T rs45455099 0.00076
NM_001267550.2(TTN):c.19191G>A (p.Thr6397=) rs140495148 0.00076
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr) rs63750043 0.00076
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00076
NM_004655.4(AXIN2):c.270C>T (p.Asp90=) rs141655687 0.00076
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_000483.5(APOC2):c.85G>A (p.Asp29Asn) rs147242592 0.00075
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=) rs201155967 0.00075
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00075
NM_004409.5(DMPK):c.1477C>T (p.Arg493Cys) rs78771765 0.00075
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00075
NM_022089.4(ATP13A2):c.106-8G>A rs200587951 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His) rs45510294 0.00074
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=) rs143368674 0.00074
NM_001267550.2(TTN):c.44014+19G>C rs139264089 0.00074
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=) rs2303834 0.00074
NM_020774.4(MIB1):c.-17C>T rs561980800 0.00074
NM_144670.6(A2ML1):c.3269G>A (p.Gly1090Asp) rs200964353 0.00074
NM_000285.4(PEPD):c.34G>A (p.Gly12Arg) rs201992066 0.00073
NM_001035.3(RYR2):c.1134C>T (p.Asp378=) rs193922621 0.00073
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg) rs200594798 0.00073
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981 0.00073
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln) rs202080221 0.00073
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00072
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00072
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871 0.00072
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp) rs138081804 0.00072
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548 0.00071
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) rs370890951 0.00071
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr) rs120074114 0.00071
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=) rs370996795 0.00071
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=) rs138064129 0.00071
NM_001089.3(ABCA3):c.3279G>A (p.Glu1093=) rs148535912 0.00071
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00070
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr) rs72648263 0.00070
NM_004380.3(CREBBP):c.383C>G (p.Ser128Cys) rs55790011 0.00070
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys) rs145619906 0.00070
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937 0.00070
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp) rs138130914 0.00070
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756 0.00069
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134 0.00069
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764 0.00069
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) rs200173934 0.00069
NM_001330078.2(NRXN1):c.1158+26A>T rs201802152 0.00069
NM_133259.4(LRPPRC):c.1426A>G (p.Thr476Ala) rs115507225 0.00069
NM_000047.3(ARSL):c.23+5G>C rs200062390 0.00068
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203 0.00068
NM_001103.4(ACTN2):c.1298C>T (p.Ser433Leu) rs143749154 0.00068
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288 0.00068
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=) rs201285872 0.00068
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704 0.00068
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00068
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr) rs201144431 0.00068
NM_005477.3(HCN4):c.3577G>C (p.Glu1193Gln) rs200507617 0.00068
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln) rs149462407 0.00068
NM_030665.4(RAI1):c.4039A>G (p.Lys1347Glu) rs34521483 0.00068
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr) rs144321760 0.00067
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn) rs141274774 0.00067
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519 0.00067
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153 0.00067
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829 0.00067
NM_014425.5(INVS):c.367C>T (p.Arg123Trp) rs149315279 0.00067
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln) rs137853963 0.00066
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=) rs200750234 0.00066
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val) rs202238753 0.00066
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202 0.00066
NM_004006.3(DMD):c.4233+2C>T rs147474070 0.00066
NM_006610.4(MASP2):c.352C>T (p.Arg118Cys) rs147270785 0.00066
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val) rs142981643 0.00066
NM_198076.6(COX20):c.157+3G>C rs367956888 0.00066
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=) rs41308303 0.00065
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00065
NM_001267550.2(TTN):c.40927+16C>T rs369965589 0.00065
NM_003280.3(TNNC1):c.201C>T (p.Asp67=) rs150881554 0.00065
NM_006031.6(PCNT):c.623G>A (p.Arg208His) rs142318247 0.00065
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_022114.4(PRDM16):c.2634C>T (p.Pro878=) rs201338158 0.00065
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr) rs184868522 0.00064
NM_000335.5(SCN5A):c.630G>A (p.Val210=) rs193922727 0.00064
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00064
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) rs1805031 0.00064
NM_001105206.3(LAMA4):c.3943G>A (p.Val1315Ile) rs70940811 0.00064
NM_001267550.2(TTN):c.59316G>A (p.Pro19772=) rs377180286 0.00064
NM_001267550.2(TTN):c.96918C>T (p.Ile32306=) rs72648266 0.00064
NM_004360.5(CDH1):c.2520C>T (p.Ser840=) rs140328601 0.00064
NM_006440.5(TXNRD2):c.858G>C (p.Arg286Ser) rs201503021 0.00064
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) rs141033098 0.00064
NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln) rs370569372 0.00064
NM_000020.3(ACVRL1):c.207C>T (p.Cys69=) rs56080682 0.00063
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955 0.00063
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp) rs148046938 0.00063
NM_001111.5(ADAR):c.3018C>T (p.Asn1006=) rs151241634 0.00063
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=) rs72646848 0.00063
NM_002471.4(MYH6):c.2807C>T (p.Ala936Val) rs199838024 0.00063
NM_003849.4(SUCLG1):c.202-4T>C rs141973418 0.00063
NM_016734.3(PAX5):c.638C>T (p.Ser213Leu) rs137870876 0.00063
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037 0.00063
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275 0.00062
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=) rs190830121 0.00062
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr) rs199784139 0.00062
NM_006610.4(MASP2):c.1142C>T (p.Thr381Ile) rs143981111 0.00062
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys) rs116606479 0.00062
NM_000257.4(MYH7):c.1230C>T (p.Tyr410=) rs150885220 0.00061
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241 0.00061
NM_001267550.2(TTN):c.39211+6C>T rs187365142 0.00061
NM_001267550.2(TTN):c.9703+17T>A rs377693857 0.00061
NM_001457.4(FLNB):c.4233C>G (p.Phe1411Leu) rs143831841 0.00061
NM_001943.5(DSG2):c.852T>C (p.Asn284=) rs62095193 0.00061
NM_002661.5(PLCG2):c.2393A>G (p.Asn798Ser) rs117077093 0.00061
NM_014363.6(SACS):c.12813T>G (p.Pro4271=) rs146376949 0.00061
NM_020717.5(SHROOM4):c.3944T>C (p.Ile1315Thr) rs149300669 0.00061
NM_000054.7(AVPR2):c.1055G>A (p.Gly352Asp) rs146350208 0.00060
NM_000543.5(SMPD1):c.8G>A (p.Arg3His) rs199836262 0.00060
NM_001105206.3(LAMA4):c.1035G>A (p.Thr345=) rs147069572 0.00060
NM_001267550.2(TTN):c.29042-2A>C rs6716782 0.00060
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=) rs188063446 0.00060
NM_004606.5(TAF1):c.2688G>A (p.Glu896=) rs148921433 0.00060
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_022114.4(PRDM16):c.934G>A (p.Asp312Asn) rs191798831 0.00060
NM_024675.4(PALB2):c.2996+17T>C rs180177128 0.00060
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) rs77705198 0.00059
NM_001142864.4(PIEZO1):c.6205G>A (p.Val2069Met) rs199752762 0.00059
NM_002471.4(MYH6):c.5652C>T (p.Ala1884=) rs200662317 0.00059
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567 0.00059
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222 0.00059
NM_133379.5(TTN):c.10920T>C (p.Ser3640=) rs142585268 0.00059
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00058
NM_001374828.1(ARID1B):c.1534A>G (p.Met512Val) rs199948752 0.00058
NM_032578.4(MYPN):c.1236C>A (p.Thr412=) rs151220474 0.00058
NM_133259.4(LRPPRC):c.1678A>T (p.Ile560Leu) rs144826521 0.00058
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala) rs117461489 0.00058
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00057
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu) rs45482691 0.00057
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00057
NM_001205293.3(CACNA1E):c.6470G>A (p.Arg2157Gln) rs2480373 0.00057
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr) rs35698242 0.00057
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_002016.2(FLG):c.8166G>A (p.Glu2722=) rs368624506 0.00057
NM_004360.5(CDH1):c.2439+10C>T rs35236080 0.00057
NC_000002.12:g.178618858T>C rs182706301 0.00056
NM_001267550.2(TTN):c.296-14T>C rs199951296 0.00056
NM_001267550.2(TTN):c.77205G>A (p.Val25735=) rs55857909 0.00056
NM_002691.4(POLD1):c.1138-8A>G rs41544624 0.00056
NM_005477.3(HCN4):c.2739G>A (p.Ala913=) rs373411041 0.00056
NM_020297.4(ABCC9):c.2238-1G>A rs141281214 0.00056
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506 0.00056
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro) rs149522412 0.00056
NM_032531.4(KIRREL3):c.908T>C (p.Val303Ala) rs201725914 0.00056
NM_032578.4(MYPN):c.1935C>T (p.Pro645=) rs71535754 0.00056
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile) rs144722432 0.00055
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys) rs72646859 0.00055
NM_001379610.1(SPINK1):c.194G>A (p.Arg65Gln) rs141634296 0.00055
NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg) rs201964644 0.00055
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595 0.00055
NM_013266.4(CTNNA3):c.1929C>T (p.His643=) rs147760277 0.00055
NM_016203.4(PRKAG2):c.1106+9G>C rs200429988 0.00055
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala) rs143389605 0.00055
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_000264.5(PTCH1):c.3954G>A (p.Pro1318=) rs45529536 0.00054
NM_001103.4(ACTN2):c.1452G>A (p.Gln484=) rs200529923 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_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409 0.00054
NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr) rs139486133 0.00054
NM_201384.3(PLEC):c.6426C>T (p.Ala2142=) rs200062782 0.00054
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_001035.3(RYR2):c.1548T>C (p.Asp516=) rs146129084 0.00053
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys) rs189127014 0.00053
NM_001374353.1(GLI2):c.148+5T>C rs201273354 0.00053
NM_001374353.1(GLI2):c.2108G>A (p.Arg703His) rs149091975 0.00053
NM_000875.5(IGF1R):c.3187-5C>T rs45495500 0.00052
NM_002693.3(POLG):c.678G>C (p.Gln226His) rs147282197 0.00052
NM_006440.5(TXNRD2):c.1174T>C (p.Tyr392His) rs201971987 0.00052
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=) rs142148876 0.00051
NM_000548.5(TSC2):c.975+13C>T rs200564575 0.00051
NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys) rs202184174 0.00051
NM_001105206.3(LAMA4):c.2655C>T (p.Leu885=) rs35772073 0.00051
NM_001267550.2(TTN):c.21404-4A>G rs72648965 0.00051
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His) rs201388509 0.00051
NM_001849.4(COL6A2):c.2182G>A (p.Val728Met) rs200585528 0.00051
NM_002667.5(PLN):c.27C>T (p.Arg9=) rs145623013 0.00051
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866 0.00051
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_014516.4(CNOT3):c.910G>A (p.Gly304Ser) rs149108037 0.00051
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp) rs61746358 0.00051
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val) rs56217500 0.00051
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=) rs200610057 0.00050
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00050
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183 0.00050
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882 0.00050
NM_001267550.2(TTN):c.31806C>T (p.Pro10602=) rs370080995 0.00050
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00050
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=) rs200825430 0.00050
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met) rs72646510 0.00050
NM_000094.4(COL7A1):c.5572G>A (p.Glu1858Lys) rs147633212 0.00049
NM_002029.4(FPR1):c.368G>A (p.Arg123His) rs149931707 0.00049
NM_022168.4(IFIH1):c.1583T>G (p.Leu528Arg) rs142348767 0.00049
NM_033337.3(CAV3):c.443G>A (p.Arg148Gln) rs140575619 0.00049
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687 0.00048
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr) rs201753022 0.00048
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00048
NM_001035.3(RYR2):c.10231-4T>C rs117180147 0.00048
NM_001103.4(ACTN2):c.927C>T (p.Pro309=) rs145411160 0.00048
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876 0.00048
NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp) rs104895452 0.00048
NM_001448.3(GPC4):c.772C>T (p.Arg258Trp) rs199910189 0.00048
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=) rs201804323 0.00048
NM_004281.4(BAG3):c.855G>A (p.Thr285=) rs147259596 0.00048
NM_004415.4(DSP):c.1574+14G>T rs200443042 0.00048
NM_021098.3(CACNA1H):c.3589G>A (p.Glu1197Lys) rs751423106 0.00048
NM_024334.3(TMEM43):c.705+7G>A rs201916031 0.00048
NM_024662.3(NAT10):c.1349C>T (p.Thr450Met) rs148211973 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_170707.4(LMNA):c.1911C>T (p.Phe637=) rs117939448 0.00048
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 0.00047
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=) rs373721253 0.00047
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00047
NM_003737.4(DCHS1):c.5972G>A (p.Arg1991His) rs145725245 0.00047
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys) rs147192139 0.00047
NM_006231.4(POLE):c.5659G>A (p.Val1887Met) rs114119067 0.00047
NM_007254.4(PNKP):c.188C>T (p.Ala63Val) rs3739173 0.00047
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser) rs148174226 0.00047
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483 0.00047
NM_033337.3(CAV3):c.276C>T (p.Phe92=) rs72546669 0.00047
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249 0.00046
NM_000492.4(CFTR):c.3469-17T>C rs199630678 0.00046
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964 0.00046
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=) rs146979083 0.00046
NM_001134363.3(RBM20):c.1659G>A (p.Ser553=) rs375626512 0.00046
NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu) rs398124448 0.00046
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile) rs200650668 0.00046
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=) rs139789997 0.00046
NM_004168.4(SDHA):c.723C>T (p.Asp241=) rs146653693 0.00046
NM_004655.4(AXIN2):c.2052G>A (p.Ala684=) rs200573256 0.00046
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00046
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) rs200996053 0.00045
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=) rs139435774 0.00045
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=) rs373282364 0.00045
NM_001105206.3(LAMA4):c.921T>G (p.Ala307=) rs186498011 0.00045
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly) rs200166942 0.00045
NM_001267550.2(TTN):c.10049C>T (p.Pro3350Leu) rs139504522 0.00045
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=) rs72648918 0.00045
NM_001267550.2(TTN):c.91311A>G (p.Glu30437=) rs374094732 0.00045
NM_002471.4(MYH6):c.531-19T>A rs374174532 0.00045
NM_004006.3(DMD):c.2457A>C (p.Leu819=) rs72468680 0.00045
NM_004360.5(CDH1):c.1744C>T (p.Leu582=) rs1801025 0.00045
NM_133379.5(TTN):c.12979A>G (p.Ile4327Val) rs144226338 0.00045
NM_144573.4(NEXN):c.732C>A (p.Pro244=) rs201171783 0.00045
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=) rs147797612 0.00044
NM_001267550.2(TTN):c.66172C>T (p.Arg22058Cys) rs199643269 0.00044
NM_001267550.2(TTN):c.99345T>G (p.Gly33115=) rs56398525 0.00044
NM_004667.6(HERC2):c.4651A>C (p.Ile1551Leu) rs200864382 0.00044
NM_005477.3(HCN4):c.2800C>T (p.Arg934Cys) rs199638465 0.00044
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile) rs200776757 0.00044
NM_033305.3(VPS13A):c.2667+11C>T rs375898960 0.00044
NM_172107.4(KCNQ2):c.2529C>T (p.Ser843=) rs140674819 0.00044
NM_207346.3(TSEN54):c.1114G>A (p.Val372Met) rs200434678 0.00044
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00043
NM_000548.5(TSC2):c.3610+6G>A rs45517301 0.00043
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=) rs72648971 0.00043
NM_001267550.2(TTN):c.33G>A (p.Pro11=) rs138331646 0.00043
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=) rs143048583 0.00043
NM_152424.4(AMER1):c.1796A>G (p.Tyr599Cys) rs144896730 0.00043
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00042
NM_000335.5(SCN5A):c.1008G>A (p.Pro336=) rs200285003 0.00042
NM_000384.3(APOB):c.7152T>C (p.Val2384=) rs72653090 0.00042
NM_001114753.3(ENG):c.-9G>A rs368423516 0.00042
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108 0.00042
NM_001267550.2(TTN):c.39044-9T>A rs184888200 0.00042
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) rs188185141 0.00042
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00042
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp) rs139145143 0.00042
NM_015450.3(POT1):c.1127A>G (p.Gln376Arg) rs143635917 0.00042
NM_133379.5(TTN):c.14616C>T (p.Ser4872=) rs148105798 0.00042
NM_133379.5(TTN):c.14806A>T (p.Thr4936Ser) rs72648909 0.00042
NM_000038.6(APC):c.2322C>T (p.Asp774=) rs145792879 0.00041
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=) rs370346797 0.00041
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) rs201257644 0.00041
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys) rs200144345 0.00041
NM_001267550.2(TTN):c.79863G>A (p.Thr26621=) rs186402008 0.00041
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=) rs72648212 0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_002471.4(MYH6):c.643-5C>T rs199859986 0.00041
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) rs121918363 0.00041
NM_022369.4(STRA6):c.902C>T (p.Thr301Ile) rs139450204 0.00041
NM_152703.5(SAMD9L):c.2069G>A (p.Gly690Asp) rs147903234 0.00041
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) rs41291047 0.00041
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) rs55886062 0.00040
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00040
NM_000548.5(TSC2):c.138+20C>G rs45517092 0.00040
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) rs201080904 0.00040
NM_001368067.1(LDB3):c.771G>A (p.Thr257=) rs144445130 0.00040
NM_004006.3(DMD):c.2490C>T (p.Asn830=) rs72468679 0.00040
NM_031418.4(ANO3):c.1915C>T (p.Leu639=) rs149866447 0.00040
NM_178012.5(TUBB2B):c.602G>C (p.Cys201Ser) rs201922441 0.00040
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_001267550.2(TTN):c.26694G>T (p.Gly8898=) rs199525540 0.00039
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195 0.00039
NM_002471.4(MYH6):c.4359+5A>G rs193283041 0.00039
NM_002471.4(MYH6):c.4359+8A>C rs188675676 0.00039
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=) rs146720775 0.00039
NM_004006.3(DMD):c.6828C>T (p.Pro2276=) rs72466595 0.00039
NM_020717.5(SHROOM4):c.1675G>A (p.Glu559Lys) rs151329289 0.00039
NM_020778.5(ALPK3):c.2223C>T (p.Leu741=) rs138935453 0.00039
NM_024408.4(NOTCH2):c.3479A>G (p.His1160Arg) rs142876168 0.00039
NM_133259.4(LRPPRC):c.2020G>A (p.Glu674Lys) rs149243712 0.00039
NM_152869.4(RGN):c.453C>G (p.Asp151Glu) rs138747840 0.00039
NM_000116.5(TAFAZZIN):c.542-20C>T rs373841640 0.00038
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00038
NM_000492.4(CFTR):c.2620-6T>C rs371315682 0.00038
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999 0.00038
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=) rs202089818 0.00038
NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser) rs150983093 0.00038
NM_004380.3(CREBBP):c.6661A>C (p.Met2221Leu) rs200716582 0.00038
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00038
NM_020778.5(ALPK3):c.2262A>G (p.Glu754=) rs143456491 0.00038
NM_030665.4(RAI1):c.1941C>T (p.Ser647=) rs140198185 0.00038
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys) rs151282801 0.00038
NM_002458.3(MUC5B):c.10853G>A (p.Arg3618His) rs201155330 0.00037
NM_003737.4(DCHS1):c.6133C>T (p.Arg2045Cys) rs147594191 0.00037
NM_004281.4(BAG3):c.888C>T (p.His296=) rs139399890 0.00037
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918 0.00037
NM_000258.3(MYL3):c.307+15C>T rs184025552 0.00036
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu) rs118203504 0.00036
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=) rs371931287 0.00036
NM_001184.4(ATR):c.2704T>C (p.Ser902Pro) rs146202702 0.00036
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=) rs140942979 0.00036
NM_002016.2(FLG):c.3321del (p.Gly1109fs) rs200519781 0.00036
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met) rs145611185 0.00036
NM_003172.4(SURF1):c.311_312insA (p.Leu105fs) rs764928653 0.00036
NM_003172.4(SURF1):c.313_321del (p.Leu105_Ala107del) rs759270179 0.00036
NM_004006.3(DMD):c.3163-18T>C rs72468662 0.00036
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg) rs142304137 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000179.3(MSH6):c.1449G>T (p.Val483=) rs35590297 0.00035
NM_000257.4(MYH7):c.2334C>T (p.Asp778=) rs2069544 0.00035
NM_000381.4(MID1):c.1561C>T (p.Arg521Cys) rs149482288 0.00035
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) rs74772771 0.00035
NM_001267550.2(TTN):c.32049A>G (p.Lys10683=) rs375408527 0.00035
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr) rs200001206 0.00035
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=) rs146782397 0.00035
NM_001384732.1(CPLANE1):c.7275G>A (p.Ala2425=) rs137899908 0.00035
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly) rs147822019 0.00035
NM_015836.4(WARS2):c.938A>T (p.Lys313Met) rs145867327 0.00035
NM_020778.5(ALPK3):c.4056C>T (p.His1352=) rs144613098 0.00035
NM_022114.4(PRDM16):c.1093G>T (p.Ala365Ser) rs200562747 0.00035
NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys) rs150890296 0.00035
NM_173495.3(PTCHD1):c.1012+5T>C rs201933353 0.00035
NM_198253.3(TERT):c.2775C>T (p.His925=) rs34528119 0.00035
NM_000048.4(ASL):c.532G>A (p.Val178Met) rs28941473 0.00034
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) rs150291001 0.00034
NM_000257.4(MYH7):c.3690C>T (p.Asp1230=) rs370750044 0.00034
NM_000360.4(TH):c.1255G>A (p.Val419Met) rs184106392 0.00034
NM_000384.3(APOB):c.2853G>A (p.Glu951=) rs151193347 0.00034
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val) rs1800091 0.00034
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys) rs199615557 0.00034
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=) rs139953862 0.00034
NM_001386795.1(DTNA):c.2039G>A (p.Arg680Gln) rs138143719 0.00034
NM_002578.5(PAK3):c.1518G>A (p.Arg506=) rs377693111 0.00034
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu) rs28935498 0.00034
NM_004975.4(KCNB1):c.1576G>A (p.Val526Ile) rs140932636 0.00034
NM_006059.4(LAMC3):c.290A>G (p.Gln97Arg) rs141758463 0.00034
NM_007194.4(CHEK2):c.*18C>T rs17884403 0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_014000.3(VCL):c.492T>G (p.Leu164=) rs143702799 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_020433.5(JPH2):c.780C>T (p.Ala260=) rs199840543 0.00034
NM_022114.4(PRDM16):c.1632C>T (p.Asp544=) rs199499877 0.00034
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr) rs201391886 0.00034
NM_172107.4(KCNQ2):c.297-18C>T rs370109710 0.00034
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182 0.00033
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_000836.4(GRIN2D):c.3628C>T (p.Pro1210Ser) rs773824115 0.00033
NM_001324144.2(ZNF41):c.88G>A (p.Glu30Lys) rs200141273 0.00033
NM_002764.4(PRPS1):c.573G>A (p.Leu191=) rs770518315 0.00033
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451 0.00033
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=) rs200852418 0.00032
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=) rs147245615 0.00032
NM_001134831.2(AHI1):c.1829G>A (p.Arg610Gln) rs374009466 0.00032
NM_001267550.2(TTN):c.36461C>G (p.Pro12154Arg) rs371580084 0.00032
NM_003673.4(TCAP):c.60C>G (p.Ala20=) rs146502276 0.00032
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys) rs727503828 0.00032
NM_005045.4(RELN):c.877G>A (p.Asp293Asn) rs200289289 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_025074.7(FRAS1):c.4334C>T (p.Thr1445Ile) rs200123789 0.00032
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008 0.00031
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00031
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile) rs146000949 0.00031
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr) rs201358641 0.00031
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val) rs72648221 0.00031
NM_002471.4(MYH6):c.5112G>A (p.Ala1704=) rs150450178 0.00031
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn) rs150821246 0.00031
NM_004655.4(AXIN2):c.1685C>T (p.Pro562Leu) rs149764887 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp) rs150036969 0.00031
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) rs34295337 0.00030
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=) rs144420313 0.00030
NM_000268.4(NF2):c.886-15C>T rs200837904 0.00030
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00030
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00030
NM_001267550.2(TTN):c.24506-16T>C rs200319727 0.00030
NM_001267550.2(TTN):c.34845C>T (p.Pro11615=) rs368781863 0.00030
NM_001267550.2(TTN):c.63273T>C (p.Asp21091=) rs374168580 0.00030
NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala) rs372782502 0.00030
NM_001267550.2(TTN):c.80271C>T (p.Val26757=) rs199875474 0.00030
NM_001267550.2(TTN):c.93524G>A (p.Arg31175His) rs72648251 0.00030
NM_001267550.2(TTN):c.94863C>T (p.His31621=) rs373871146 0.00030
NM_004281.4(BAG3):c.230C>T (p.Pro77Leu) rs141355480 0.00030
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000071.3(CBS):c.1479G>A (p.Thr493=) rs143225442 0.00029
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=) rs116392938 0.00029
NM_001018005.2(TPM1):c.563+313A>G rs144700226 0.00029
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met) rs200593368 0.00029
NM_002471.4(MYH6):c.4960-9G>A rs557113705 0.00029
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) rs41554817 0.00029
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=) rs146168040 0.00029
NM_005477.3(HCN4):c.1656C>T (p.His552=) rs148142070 0.00029
NM_005629.4(SLC6A8):c.1767+15C>T rs370331295 0.00029
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=) rs143346402 0.00029
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln) rs147927477 0.00029
NM_145046.5(CALR3):c.60C>G (p.Thr20=) rs370721650 0.00029
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln) rs150387338 0.00029
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn) rs144963736 0.00028
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu) rs185962498 0.00028
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala) rs200689750 0.00028
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val) rs72646898 0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_002471.4(MYH6):c.2097C>T (p.Gly699=) rs149734381 0.00028
NM_007078.3(LDB3):c.1035C>T (p.Ile345=) rs121908336 0.00028
NM_012282.4(KCNE5):c.55G>T (p.Glu19Ter) rs374389286 0.00028
NM_014321.4(ORC6):c.2T>C (p.Met1Thr) rs146795505 0.00028
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00027
NM_000455.5(STK11):c.*8C>T rs587782259 0.00027
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00027
NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=) rs147894075 0.00027
NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser) rs200866883 0.00027
NM_001267550.2(TTN):c.30433+15A>T rs371872220 0.00027
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032 0.00027
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257 0.00027
NM_001386795.1(DTNA):c.1404G>A (p.Ala468=) rs144776465 0.00027
NM_004281.4(BAG3):c.771C>T (p.Pro257=) rs200212999 0.00027
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His) rs544216926 0.00027
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00027
NM_033118.4(MYLK2):c.972+14G>A rs193922713 0.00027
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000077.5(CDKN2A):c.318G>A (p.Val106=) rs199888003 0.00026
NM_000094.4(COL7A1):c.1348C>T (p.Arg450Cys) rs139434755 0.00026
NM_001122681.2(SH3BP2):c.1366T>C (p.Ser456Pro) rs145949614 0.00026
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=) rs201246720 0.00026
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=) rs184307461 0.00026
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=) rs72677223 0.00026
NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=) rs375538420 0.00026
NM_001267550.2(TTN):c.98892C>T (p.Pro32964=) rs374081262 0.00026
NM_002230.4(JUP):c.486G>A (p.Ala162=) rs113317262 0.00026
NM_003482.4(KMT2D):c.6437C>T (p.Pro2146Leu) rs563981206 0.00026
NM_020774.4(MIB1):c.1830-18T>C rs201761957 0.00026
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246 0.00025
NM_000527.5(LDLR):c.1875C>T (p.Asn625=) rs137853962 0.00025
NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val) rs180177501 0.00025
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575 0.00025
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr) rs146941600 0.00025
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=) rs368686031 0.00025
NM_001394062.1(MACF1):c.15226C>G (p.Leu5076Val) rs144367111 0.00025
NM_003742.4(ABCB11):c.851T>C (p.Val284Ala) rs200739891 0.00025
NM_014639.4(SKIC3):c.3808C>G (p.Pro1270Ala) rs146627706 0.00025
NM_020297.4(ABCC9):c.305T>C (p.Leu102Pro) rs374659816 0.00025
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn) rs145132275 0.00025
NM_000051.4(ATM):c.6108T>C (p.Tyr2036=) rs3092826 0.00024
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013 0.00024
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro) rs377225516 0.00024
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00024
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met) rs193922635 0.00024
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter) rs575822089 0.00024
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=) rs190604150 0.00024
NM_001267550.2(TTN):c.35875+8T>G rs192408585 0.00024
NM_002471.4(MYH6):c.2685+10C>T rs202155137 0.00024
NM_004281.4(BAG3):c.1240G>A (p.Glu414Lys) rs117749531 0.00024
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) rs144972972 0.00024
NM_171998.4(RAB39B):c.543A>G (p.Thr181=) rs369970931 0.00024
NM_000257.4(MYH7):c.797-17T>C rs532401716 0.00023
NM_000368.5(TSC1):c.1936A>G (p.Met646Val) rs145741748 0.00023
NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys) rs200524526 0.00023
NM_001267550.2(TTN):c.5697C>T (p.Ile1899=) rs148434577 0.00023
NM_001267550.2(TTN):c.59344+3G>A rs142095604 0.00023
NM_001378414.1(HDAC4):c.3058C>T (p.Arg1020Cys) rs201219118 0.00023
NM_001458.5(FLNC):c.2068T>C (p.Phe690Leu) rs200943714 0.00023
NM_002230.4(JUP):c.546G>A (p.Ser182=) rs202038498 0.00023
NM_003611.3(OFD1):c.2260+12G>A rs375507459 0.00023
NM_004006.3(DMD):c.2386G>A (p.Val796Ile) rs139726281 0.00023
NM_004006.3(DMD):c.7310-7A>G rs373230021 0.00023
NM_005045.4(RELN):c.8798C>T (p.Thr2933Ile) rs201656873 0.00023
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=) rs144434028 0.00023
NM_016203.4(PRKAG2):c.1585-4G>A rs373649956 0.00023
NM_017775.4(TTC19):c.313-4T>C rs374666326 0.00023
NM_020433.5(JPH2):c.379+12T>G rs763058686 0.00023
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00023
NM_144670.6(A2ML1):c.1477T>C (p.Leu493=) rs200088686 0.00023
NM_152296.5(ATP1A3):c.1193-4C>G rs200111818 0.00023
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
NM_000384.3(APOB):c.7863A>C (p.Leu2621=) rs138497378 0.00022
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys) rs551099887 0.00022
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=) rs183336802 0.00022
NM_001267550.2(TTN):c.12234C>G (p.Thr4078=) rs192857526 0.00022
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro) rs201674674 0.00022
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641 0.00022
NM_002471.4(MYH6):c.4137G>A (p.Thr1379=) rs372158844 0.00022
NM_005477.3(HCN4):c.1459G>A (p.Val487Met) rs202037304 0.00022
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_001035.3(RYR2):c.1005+13A>G rs552027921 0.00021
NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys) rs201510986 0.00021
NM_001267550.2(TTN):c.70644C>T (p.Thr23548=) rs148210834 0.00021
NM_001267550.2(TTN):c.7957T>C (p.Leu2653=) rs201837864 0.00021
NM_001276345.2(TNNT2):c.200-11A>G rs368658464 0.00021
NM_002230.4(JUP):c.1507G>A (p.Gly503Ser) rs376051686 0.00021
NM_004415.4(DSP):c.5035C>T (p.His1679Tyr) rs762561997 0.00021
NM_004444.5(EPHB4):c.1067C>G (p.Thr356Ser) rs192640017 0.00021
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090 0.00021
NM_020207.7(ERCC6L2):c.1930C>T (p.Arg644Ter) rs147948835 0.00021
NM_020778.5(ALPK3):c.1589G>A (p.Arg530Gln) rs150733634 0.00021
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) rs121908253 0.00021
NM_182961.4(SYNE1):c.19927T>C (p.Leu6643=) rs143118084 0.00021
NM_198253.3(TERT):c.838G>A (p.Glu280Lys) rs199701877 0.00021
NM_000257.4(MYH7):c.5283+19C>T rs45582836 0.00020
NM_000264.5(PTCH1):c.2222C>T (p.Ala741Val) rs2227971 0.00020
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00020
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) rs373355159 0.00020
NM_001267550.2(TTN):c.83133G>A (p.Lys27711=) rs369223412 0.00020
NM_002055.5(GFAP):c.329C>G (p.Thr110Ser) rs147282497 0.00020
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279 0.00020
NM_133379.5(TTN):c.16020T>C (p.His5340=) rs200378944 0.00020
NM_201384.3(PLEC):c.4076G>A (p.Arg1359His) rs574482100 0.00020
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_000257.4(MYH7):c.5412C>G (p.Ala1804=) rs147433856 0.00019
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met) rs138695961 0.00019
NM_000271.5(NPC1):c.3477+19T>C rs375942184 0.00019
NM_000384.3(APOB):c.3724T>A (p.Ser1242Thr) rs200261177 0.00019
NM_000455.5(STK11):c.1296G>A (p.Gln432=) rs587781179 0.00019
NM_001005273.3(CHD3):c.4826G>A (p.Arg1609Gln) rs759598225 0.00019
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) rs368321767 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_001271.4(CHD2):c.4278+5T>C rs202174434 0.00019
NM_001330078.2(NRXN1):c.3129A>G (p.Val1043=) rs200698497 0.00019
NM_002471.4(MYH6):c.2841C>T (p.Asp947=) rs140305424 0.00019
NM_003673.4(TCAP):c.111-16C>G rs199865814 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu) rs121908603 0.00019
NM_015443.4(KANSL1):c.620A>G (p.Asn207Ser) rs144882998 0.00019
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=) rs397517263 0.00019
NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met) rs202096917 0.00019
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val) rs376934539 0.00019
NM_018713.3(SLC30A10):c.269C>T (p.Thr90Ile) rs554675480 0.00019
NM_020812.4(DOCK6):c.5939+2T>C rs201387914 0.00019
NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys) rs199881207 0.00019
NM_144997.7(FLCN):c.592G>A (p.Asp198Asn) rs200168437 0.00019
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_001048174.2(MUTYH):c.1102+9A>T rs587780742 0.00018
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln) rs138926584 0.00018
NM_001256789.3(CACNA1F):c.761T>C (p.Ile254Thr) rs202029187 0.00018
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His) rs376982715 0.00018
NM_001267550.2(TTN):c.55512C>T (p.Asp18504=) rs377164046 0.00018
NM_001267550.2(TTN):c.58397G>C (p.Gly19466Ala) rs201922910 0.00018
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) rs200766837 0.00018
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522 0.00018
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val) rs200786705 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn) rs201541505 0.00017
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002 0.00017
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343 0.00017
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00017
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu) rs200735475 0.00017
NM_001035.3(RYR2):c.3024G>A (p.Ala1008=) rs566157997 0.00017
NM_001110556.2(FLNA):c.2023-4C>G rs368719012 0.00017
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) rs200497615 0.00017
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser) rs200355367 0.00017
NM_001267550.2(TTN):c.40581A>G (p.Glu13527=) rs775954427 0.00017
NM_001267550.2(TTN):c.687T>C (p.Phe229=) rs376527094 0.00017
NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn) rs200697681 0.00017
NM_001379451.1(BCORL1):c.62G>A (p.Arg21His) rs778701486 0.00017
NM_004281.4(BAG3):c.96G>T (p.Pro32=) rs372083121 0.00017
NM_013266.4(CTNNA3):c.18A>T (p.Pro6=) rs138580439 0.00017
NM_020297.4(ABCC9):c.4062G>A (p.Ser1354=) rs145005748 0.00017
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg) rs182698253 0.00017
NC_000011.10:g.47349939G>A rs561595897 0.00016
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys) rs201314561 0.00016
NM_000059.4(BRCA2):c.9649-20C>T rs56177715 0.00016
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310 0.00016
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617 0.00016
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp) rs375968016 0.00016
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897 0.00016
NM_001105206.3(LAMA4):c.1020C>T (p.Asn340=) rs147822567 0.00016
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser) rs200242235 0.00016
NM_001165963.4(SCN1A):c.1378-3T>C rs150964803 0.00016
NM_001379610.1(SPINK1):c.194+2T>C rs148954387 0.00016
NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp) rs763039506 0.00016
NM_004006.3(DMD):c.9486G>A (p.Glu3162=) rs370724251 0.00016
NM_006231.4(POLE):c.3245G>A (p.Arg1082His) rs201744227 0.00016
NM_007214.5(SEC63):c.340-8T>C rs1569556 0.00016
NM_014000.3(VCL):c.1716T>G (p.Leu572=) rs189781480 0.00016
NM_014000.3(VCL):c.1842G>A (p.Thr614=) rs144117013 0.00016
NM_144573.4(NEXN):c.865-17A>G rs201771600 0.00016
NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter) rs145119918 0.00016
NM_170707.4(LMNA):c.1656C>T (p.Asp552=) rs370219874 0.00016
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00015
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00015
NM_000535.7(PMS2):c.1467G>A (p.Glu489=) rs542522853 0.00015
NM_000834.5(GRIN2B):c.2481G>A (p.Ala827=) rs189384622 0.00015
NM_001267550.2(TTN):c.20772G>A (p.Lys6924=) rs369993514 0.00015
NM_001267550.2(TTN):c.45979C>T (p.Arg15327Cys) rs367774903 0.00015
NM_001267550.2(TTN):c.46800A>G (p.Glu15600=) rs190058852 0.00015
NM_001370259.2(MEN1):c.1080C>T (p.Ile360=) rs147331514 0.00015
NM_001371904.1(APOA5):c.434A>G (p.Gln145Arg) rs368739905 0.00015
NM_001374353.1(GLI2):c.4094G>A (p.Arg1365His) rs200080112 0.00015
NM_005591.4(MRE11):c.1504C>T (p.Arg502Cys) rs186333183 0.00015
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686 0.00015
NM_022114.4(PRDM16):c.2748G>A (p.Ala916=) rs370768364 0.00015
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala) rs397515869 0.00014
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623 0.00014
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His) rs79457258 0.00014
NM_001103.4(ACTN2):c.615+15C>T rs369293885 0.00014
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783 0.00014
NM_001267550.2(TTN):c.103053C>T (p.Thr34351=) rs3731753 0.00014
NM_001267550.2(TTN):c.35313G>A (p.Pro11771=) rs369739111 0.00014
NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu) rs184815126 0.00014
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=) rs375006117 0.00014
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln) rs200843338 0.00014
NM_001368894.2(PAX6):c.807+5C>T rs376564909 0.00014
NM_003737.4(DCHS1):c.6422G>A (p.Arg2141Gln) rs141488333 0.00014
NM_006005.3(WFS1):c.2054G>A (p.Arg685His) rs142668478 0.00014
NM_007078.3(LDB3):c.897-14T>C rs763081924 0.00014
NM_007194.4(CHEK2):c.-4C>T rs374938148 0.00014
NM_022114.4(PRDM16):c.3406G>A (p.Gly1136Arg) rs775245244 0.00014
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu) rs199795381 0.00014
NM_000038.6(APC):c.450A>G (p.Lys150=) rs116020626 0.00013
NM_000051.4(ATM):c.8156G>A (p.Arg2719His) rs55982963 0.00013
NM_000117.3(EMD):c.428C>T (p.Ser143Phe) rs139983160 0.00013
NM_000179.3(MSH6):c.59C>T (p.Ala20Val) rs63750664 0.00013
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_001018005.2(TPM1):c.114+14C>T rs576659891 0.00013
NM_001035.3(RYR2):c.9963G>A (p.Pro3321=) rs199730192 0.00013
NM_001243133.2(NLRP3):c.2419G>A (p.Ala807Thr) rs201096167 0.00013
NM_001267550.2(TTN):c.10115-4G>A rs367648529 0.00013
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=) rs72648997 0.00013
NM_001267550.2(TTN):c.39813A>G (p.Pro13271=) rs373429851 0.00013
NM_001267550.2(TTN):c.71883T>C (p.Val23961=) rs368692510 0.00013
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg) rs201564919 0.00013
NM_002471.4(MYH6):c.1252G>A (p.Val418Met) rs147606900 0.00013
NM_004415.4(DSP):c.1575-15C>G rs369184165 0.00013
NM_005477.3(HCN4):c.621C>G (p.Arg207=) rs727503958 0.00013
NM_005751.5(AKAP9):c.8747C>A (p.Thr2916Lys) rs146648044 0.00013
NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His) rs145522851 0.00013
NM_022114.4(PRDM16):c.1668G>A (p.Leu556=) rs372910329 0.00013
NM_032977.4(CASP10):c.1297G>A (p.Glu433Lys) rs200540853 0.00013
NM_133379.5(TTN):c.15768T>A (p.His5256Gln) rs138826545 0.00013
NM_213599.3(ANO5):c.2256G>A (p.Thr752=) rs144048656 0.00013
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262 0.00012
NM_000237.3(LPL):c.286G>C (p.Val96Leu) rs373088068 0.00012
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu) rs118203481 0.00012
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866 0.00012
NM_001035.3(RYR2):c.7824+20G>A rs373240466 0.00012
NM_001128840.3(CACNA1D):c.1637A>G (p.Asn546Ser) rs55797424 0.00012
NM_001267550.2(TTN):c.103912C>T (p.Arg34638Cys) rs374444254 0.00012
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg) rs374882815 0.00012
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=) rs146219199 0.00012
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=) rs72646889 0.00012
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=) rs372543652 0.00012
NM_005912.2(MC4R):c.110A>T (p.Asp37Val) rs13447325 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_017780.4(CHD7):c.277A>G (p.Thr93Ala) rs398124317 0.00012
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu) rs201332554 0.00012
NM_145046.5(CALR3):c.403G>A (p.Asp135Asn) rs143932873 0.00012
NM_145046.5(CALR3):c.564del (p.Gln189fs) rs747656642 0.00012
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833 0.00011
NM_000179.3(MSH6):c.3674C>T (p.Thr1225Met) rs63750370 0.00011
NM_000256.3(MYBPC3):c.1467C>T (p.Asp489=) rs35690719 0.00011
NM_000256.3(MYBPC3):c.2761C>G (p.Gln921Glu) rs367729718 0.00011
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000256.3(MYBPC3):c.531C>T (p.Arg177=) rs368035400 0.00011
NM_000257.4(MYH7):c.345C>T (p.Tyr115=) rs149439730 0.00011
NM_000302.4(PLOD1):c.303C>T (p.Ser101=) rs147980436 0.00011
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=) rs372970828 0.00011
NM_000335.5(SCN5A):c.2103G>A (p.Pro701=) rs564847999 0.00011
NM_000465.4(BARD1):c.1152C>T (p.Ser384=) rs368291318 0.00011
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val) rs397508556 0.00011
NM_001018005.2(TPM1):c.726G>A (p.Ala242=) rs200484871 0.00011
NM_001035.3(RYR2):c.10221G>A (p.Ser3407=) rs373769240 0.00011
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_001134363.3(RBM20):c.3573+16C>T rs772863559 0.00011
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp) rs148442069 0.00011
NM_001199107.2(TBC1D24):c.178C>T (p.Arg60Trp) rs373914077 0.00011
NM_001267550.2(TTN):c.19881G>A (p.Ser6627=) rs371495674 0.00011
NM_001267550.2(TTN):c.50858-3C>T rs587782987 0.00011
NM_001267550.2(TTN):c.5742G>A (p.Ala1914=) rs368719553 0.00011
NM_001267550.2(TTN):c.66051G>A (p.Val22017=) rs587780981 0.00011
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu) rs142453163 0.00011
NM_001267550.2(TTN):c.80160T>G (p.Ile26720Met) rs376363284 0.00011
NM_001267550.2(TTN):c.88123C>T (p.Arg29375Cys) rs368439674 0.00011
NM_002230.4(JUP):c.1159-20G>A rs782463183 0.00011
NM_002471.4(MYH6):c.1410C>T (p.Asp470=) rs139886074 0.00011
NM_002471.4(MYH6):c.1599C>T (p.Ser533=) rs371263768 0.00011
NM_002471.4(MYH6):c.3343-3C>A rs565446762 0.00011
NM_003002.4(SDHD):c.53C>T (p.Ala18Val) rs192332761 0.00011
NM_003200.5(TCF3):c.1549G>C (p.Glu517Gln) rs368238041 0.00011
NM_004933.3(CDH15):c.131G>A (p.Arg44Gln) rs199879102 0.00011
NM_006946.4(SPTBN2):c.406A>G (p.Met136Val) rs150610657 0.00011
NM_013266.4(CTNNA3):c.1732+8A>G rs372686443 0.00011
NM_016529.6(ATP8A2):c.1560C>T (p.Ile520=) rs558462263 0.00011
NM_016929.5(CLIC5):c.514C>T (p.Arg172Trp) rs138254725 0.00011
NM_024666.5(AAGAB):c.1A>G (p.Met1Val) rs539301011 0.00011
NM_032119.4(ADGRV1):c.18879C>T (p.Ile6293=) rs372350188 0.00011
NM_033337.3(CAV3):c.204C>A (p.Ser68=) rs116840775 0.00011
NM_145046.5(CALR3):c.378G>A (p.Ser126=) rs374869347 0.00011
NM_201384.3(PLEC):c.6248C>T (p.Ala2083Val) rs781878105 0.00011
NM_000186.4(CFH):c.1548T>A (p.Asn516Lys) rs147403664 0.00010
NM_000264.5(PTCH1):c.1234G>T (p.Ala412Ser) rs370354759 0.00010
NM_001035.3(RYR2):c.9067+10C>T rs372631657 0.00010
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu) rs139489232 0.00010
NM_001267550.2(TTN):c.18295C>T (p.Leu6099Phe) rs370109572 0.00010
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu) rs200778464 0.00010
NM_001267550.2(TTN):c.93981C>G (p.Val31327=) rs370894846 0.00010
NM_003235.5(TG):c.7569G>A (p.Val2523=) rs771682922 0.00010
NM_004006.3(DMD):c.3432+10A>G rs746260475 0.00010
NM_005359.6(SMAD4):c.21G>A (p.Thr7=) rs142292491 0.00010
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 0.00010
NM_007194.4(CHEK2):c.1095+19G>A rs200020484 0.00010
NM_018196.4(TMLHE):c.248C>T (p.Ala83Val) rs149189246 0.00010
NM_022168.4(IFIH1):c.1312T>C (p.Ser438Pro) rs139714761 0.00010
NM_024334.3(TMEM43):c.429G>A (p.Thr143=) rs201217046 0.00010
NM_032578.4(MYPN):c.259C>G (p.Pro87Ala) rs376945733 0.00010
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572 0.00009
NM_000236.3(LIPC):c.623G>A (p.Arg208His) rs200684324 0.00009
NM_000337.6(SGCD):c.123C>G (p.Leu41=) rs200670993 0.00009
NM_000455.5(STK11):c.787T>C (p.Leu263=) rs372378119 0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_001009944.3(PKD1):c.6484C>T (p.Arg2162Trp) rs373256534 0.00009
NM_001048174.2(MUTYH):c.606+14C>G rs752537118 0.00009
NM_001267550.2(TTN):c.103992C>G (p.Leu34664=) rs375120372 0.00009
NM_001267550.2(TTN):c.1245+20G>T rs371234481 0.00009
NM_001267550.2(TTN):c.41931T>C (p.Tyr13977=) rs369128249 0.00009
NM_001267550.2(TTN):c.47133A>G (p.Ala15711=) rs573218266 0.00009
NM_001267550.2(TTN):c.82692G>A (p.Ala27564=) rs557628408 0.00009
NM_001927.4(DES):c.250G>A (p.Gly84Ser) rs200545412 0.00009
NM_002230.4(JUP):c.892G>A (p.Gly298Ser) rs199597864 0.00009
NM_002471.4(MYH6):c.4651-3C>A rs572175190 0.00009
NM_002878.4(RAD51D):c.145-4G>A rs201361465 0.00009
NM_004517.4(ILK):c.466G>A (p.Gly156Ser) rs199790448 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085 0.00009
NM_014391.3(ANKRD1):c.750+17G>A rs373898620 0.00009
NM_022114.4(PRDM16):c.2503G>A (p.Ala835Thr) rs755872965 0.00009
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met) rs104894705 0.00009
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) rs121908121 0.00009
NM_000059.4(BRCA2):c.6748A>G (p.Thr2250Ala) rs80358899 0.00008
NM_000251.3(MSH2):c.2500G>A (p.Ala834Thr) rs63750757 0.00008
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr) rs63751454 0.00008
NM_000257.4(MYH7):c.4618C>T (p.Leu1540=) rs368734580 0.00008
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln) rs375798246 0.00008
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=) rs587780445 0.00008
NM_001199397.3(NEK1):c.1080+4T>C rs757527637 0.00008
NM_001267550.2(TTN):c.33742+8C>T rs375939001 0.00008
NM_002230.4(JUP):c.1982G>A (p.Arg661Gln) rs555499592 0.00008
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) rs139590686 0.00008
NM_004614.5(TK2):c.416C>T (p.Ala139Val) rs281865494 0.00008
NM_005159.5(ACTC1):c.165C>T (p.Tyr55=) rs149432225 0.00008
NM_006031.6(PCNT):c.406G>A (p.Gly136Ser) rs59183158 0.00008
NM_007294.4(BRCA1):c.4644G>A (p.Thr1548=) rs28897692 0.00008
NM_016122.3(CEP83):c.625C>T (p.Arg209Ter) rs369483167 0.00008
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880 0.00008
NM_024334.3(TMEM43):c.798G>A (p.Arg266=) rs139078900 0.00008
NM_025132.4(WDR19):c.2454C>T (p.Ala818=) rs748535483 0.00008
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097 0.00007
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00007
NM_000059.4(BRCA2):c.987G>A (p.Arg329=) rs561002197 0.00007
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala) rs202038499 0.00007
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly) rs41295282 0.00007
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys) rs4986984 0.00007
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His) rs374255381 0.00007
NM_000335.5(SCN5A):c.1842A>G (p.Pro614=) rs766696979 0.00007
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile) rs199473278 0.00007
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625 0.00007
NM_001035.3(RYR2):c.10017C>T (p.His3339=) rs376439588 0.00007
NM_001035.3(RYR2):c.1144G>A (p.Val382Met) rs370057029 0.00007
NM_001105206.3(LAMA4):c.2569G>A (p.Ala857Thr) rs144123257 0.00007
NM_001110792.2(MECP2):c.1197C>T (p.Pro399=) rs61750246 0.00007
NM_001267550.2(TTN):c.102984C>T (p.Asp34328=) rs541125667 0.00007
NM_001267550.2(TTN):c.103365C>T (p.Arg34455=) rs398124462 0.00007
NM_001267550.2(TTN):c.44588C>T (p.Thr14863Met) rs759406486 0.00007
NM_001267550.2(TTN):c.54855G>A (p.Thr18285=) rs200410212 0.00007
NM_001267550.2(TTN):c.56019T>C (p.Thr18673=) rs183047238 0.00007
NM_001267550.2(TTN):c.72824A>T (p.Lys24275Ile) rs199860952 0.00007
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp) rs45466197 0.00007
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862 0.00007
NM_001370259.2(MEN1):c.1185+12G>A rs373609932 0.00007
NM_001759.4(CCND2):c.455C>A (p.Ala152Glu) rs199719393 0.00007
NM_002230.4(JUP):c.1774-6C>T rs375016135 0.00007
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629 0.00007
NM_002471.4(MYH6):c.3118C>T (p.Leu1040=) rs368497504 0.00007
NM_002691.4(POLD1):c.2178G>C (p.Gln726His) rs747483140 0.00007
NM_007294.4(BRCA1):c.5278-14C>G rs80358105 0.00007
NM_015338.6(ASXL1):c.1907C>T (p.Ala636Val) rs370230857 0.00007
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter) rs201850378 0.00007
NM_025137.4(SPG11):c.6944A>C (p.Asn2315Thr) rs200276333 0.00007
NM_032578.4(MYPN):c.251A>G (p.Asn84Ser) rs768968410 0.00007
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000051.4(ATM):c.7521C>T (p.Asp2507=) rs751234924 0.00006
NM_000053.4(ATP7B):c.325C>T (p.Leu109=) rs751920801 0.00006
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 0.00006
NM_000117.3(EMD):c.454C>T (p.Arg152Cys) rs376456050 0.00006
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys) rs376243329 0.00006
NM_000249.4(MLH1):c.1104G>A (p.Ser368=) rs769364808 0.00006
NM_000337.6(SGCD):c.295-20C>A rs144250417 0.00006
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu) rs118203553 0.00006
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) rs121908755 0.00006
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu) rs75961395 0.00006
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006
NM_001002029.4(C4B):c.2719A>G (p.Thr907Ala) rs796750528 0.00006
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val) rs143900944 0.00006
NM_001035.3(RYR2):c.14808+17A>C rs368520821 0.00006
NM_001035.3(RYR2):c.6738G>T (p.Ser2246=) rs368207198 0.00006
NM_001035.3(RYR2):c.9672C>T (p.Ser3224=) rs370740528 0.00006
NM_001103.4(ACTN2):c.2568G>A (p.Pro856=) rs149554430 0.00006
NM_001105206.3(LAMA4):c.4287+16G>A rs140156070 0.00006
NM_001267550.2(TTN):c.17686G>A (p.Glu5896Lys) rs561557554 0.00006
NM_001267550.2(TTN):c.18561G>A (p.Ala6187=) rs377556808 0.00006
NM_001267550.2(TTN):c.20837-12G>A rs534822724 0.00006
NM_001267550.2(TTN):c.23382T>A (p.Pro7794=) rs768874223 0.00006
NM_001267550.2(TTN):c.31270+12G>T rs564264476 0.00006
NM_001267550.2(TTN):c.32070C>T (p.Val10690=) rs757316831 0.00006
NM_001267550.2(TTN):c.6420T>A (p.Asp2140Glu) rs777009984 0.00006
NM_001267550.2(TTN):c.64673-5T>C rs530496528 0.00006
NM_001267550.2(TTN):c.65389T>G (p.Cys21797Gly) rs375830234 0.00006
NM_001267550.2(TTN):c.7758A>G (p.Ile2586Met) rs556000493 0.00006
NM_001267550.2(TTN):c.86463A>G (p.Gly28821=) rs368268066 0.00006
NM_001358530.2(MOCS1):c.377G>A (p.Gly126Asp) rs372246702 0.00006
NM_001358530.2(MOCS1):c.418+1G>A rs141982812 0.00006
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys) rs531732438 0.00006
NM_002471.4(MYH6):c.3177C>T (p.Gly1059=) rs529676901 0.00006
NM_003280.3(TNNC1):c.195C>T (p.Asp65=) rs370426309 0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala) rs553805862 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.1617G>A (p.Thr539=) rs372002119 0.00006
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923 0.00006
NM_012431.3(SEMA3E):c.479C>T (p.Ser160Leu) rs142392597 0.00006
NM_014000.3(VCL):c.2468G>A (p.Arg823Gln) rs759202535 0.00006
NM_017882.3(CLN6):c.199-5C>T rs371705916 0.00006
NM_020297.4(ABCC9):c.4512+711G>A rs72559751 0.00006
NM_024757.5(EHMT1):c.3375G>C (p.Arg1125Ser) rs764006601 0.00006
NM_025009.5(CEP135):c.874C>T (p.Arg292Ter) rs752140135 0.00006
NM_152732.5(RSPH9):c.2T>C (p.Met1Thr) rs1395940101 0.00006
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly) rs543697946 0.00006
NM_181486.4(TBX5):c.786C>T (p.Thr262=) rs375955080 0.00006
NM_194277.3(FRMD7):c.899G>A (p.Arg300His) rs773529900 0.00006
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00005
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His) rs80359105 0.00005
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997 0.00005
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 0.00005
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_000257.4(MYH7):c.3273C>T (p.Asn1091=) rs200664031 0.00005
NM_000335.5(SCN5A):c.1735G>A (p.Gly579Arg) rs199473128 0.00005
NM_000335.5(SCN5A):c.4083G>A (p.Arg1361=) rs377173580 0.00005
NM_000384.3(APOB):c.10025C>T (p.Ser3342Phe) rs267599180 0.00005
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00005
NM_001035.3(RYR2):c.12189G>A (p.Thr4063=) rs368948386 0.00005
NM_001035.3(RYR2):c.5454T>C (p.Phe1818=) rs201218861 0.00005
NM_001105206.3(LAMA4):c.2214C>T (p.Thr738=) rs782058486 0.00005
NM_001134363.3(RBM20):c.1529T>C (p.Phe510Ser) rs372567331 0.00005
NM_001267550.2(TTN):c.12543C>T (p.Thr4181=) rs764856949 0.00005
NM_001267550.2(TTN):c.20837-19A>G rs554860016 0.00005
NM_001267550.2(TTN):c.33173-4G>A rs727504440 0.00005
NM_001267550.2(TTN):c.42847C>T (p.Arg14283Cys) rs199684560 0.00005
NM_001267550.2(TTN):c.49704A>G (p.Val16568=) rs565691537 0.00005
NM_001267550.2(TTN):c.54811+10C>T rs796651993 0.00005
NM_001267550.2(TTN):c.56351G>A (p.Arg18784His) rs771284532 0.00005
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr) rs377000174 0.00005
NM_001267550.2(TTN):c.63464G>A (p.Arg21155His) rs373169150 0.00005
NM_001267550.2(TTN):c.72167G>A (p.Arg24056His) rs398124455 0.00005
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val) rs727503538 0.00005
NM_001458.5(FLNC):c.2041G>A (p.Gly681Ser) rs199705417 0.00005
NM_002230.4(JUP):c.460G>A (p.Glu154Lys) rs782765314 0.00005
NM_002471.4(MYH6):c.5334C>T (p.Ser1778=) rs556492704 0.00005
NM_002471.4(MYH6):c.5427A>C (p.Gly1809=) rs149294569 0.00005
NM_004006.3(DMD):c.434G>A (p.Arg145Gln) rs398123952 0.00005
NM_004360.5(CDH1):c.1224G>A (p.Ala408=) rs200161607 0.00005
NM_005477.3(HCN4):c.1254C>T (p.Ile418=) rs373794941 0.00005
NM_005629.4(SLC6A8):c.820G>A (p.Val274Met) rs782208622 0.00005
NM_007078.3(LDB3):c.610G>A (p.Ala204Thr) rs774976112 0.00005
NM_007078.3(LDB3):c.992C>T (p.Ala331Val) rs368053281 0.00005
NM_007217.4(PDCD10):c.104G>A (p.Arg35Gln) rs201796692 0.00005
NM_007294.4(BRCA1):c.670+16G>A rs199916228 0.00005
NM_016203.4(PRKAG2):c.1659C>T (p.Ala553=) rs374476363 0.00005
NM_130837.3(OPA1):c.2213G>A (p.Arg738His) rs542540811 0.00005
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853 0.00004
NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile) rs80358927 0.00004
NM_000116.5(TAFAZZIN):c.371-6C>A rs782195445 0.00004
NM_000249.4(MLH1):c.1269G>A (p.Arg423=) rs373076967 0.00004
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala) rs267607840 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.540C>T (p.Gly180=) rs371842442 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000302.4(PLOD1):c.1651-2A>G rs565513365 0.00004
NM_000335.5(SCN5A):c.1281C>T (p.Thr427=) rs375989197 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000419.5(ITGA2B):c.3060+2T>C rs74664206 0.00004
NM_000432.4(MYL2):c.353+16G>A rs572363699 0.00004
NM_000432.4(MYL2):c.403-1G>C rs199474813 0.00004
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458 0.00004
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp) rs28941776 0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000535.7(PMS2):c.*17G>C rs556089649 0.00004
NM_001005242.3(PKP2):c.1034+10C>T rs759397762 0.00004
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=) rs529442984 0.00004
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val) rs551045165 0.00004
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr) rs141438322 0.00004
NM_001035.3(RYR2):c.4160+7A>G rs377465289 0.00004
NM_001103.4(ACTN2):c.2552G>A (p.Arg851His) rs201335965 0.00004
NM_001130438.3(SPTAN1):c.7390G>A (p.Ala2464Thr) rs544843583 0.00004
NM_001134363.3(RBM20):c.3574-6C>G rs762069628 0.00004
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His) rs757918924 0.00004
NM_001267550.2(TTN):c.107254C>T (p.Arg35752Cys) rs528535076 0.00004
NM_001267550.2(TTN):c.16056T>C (p.Asp5352=) rs376820575 0.00004
NM_001267550.2(TTN):c.19677A>C (p.Ala6559=) rs372654116 0.00004
NM_001267550.2(TTN):c.30538+6T>G rs1363737815 0.00004
NM_001267550.2(TTN):c.39128-12T>A rs779588688 0.00004
NM_001267550.2(TTN):c.46697-19_46697-18del rs530484268 0.00004
NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=) rs376188859 0.00004
NM_001267550.2(TTN):c.51249C>A (p.Val17083=) rs377342233 0.00004
NM_001267550.2(TTN):c.5264A>G (p.Asn1755Ser) rs201904897 0.00004
NM_001267550.2(TTN):c.58470T>A (p.Asp19490Glu) rs374118468 0.00004
NM_001267550.2(TTN):c.62097A>G (p.Pro20699=) rs774995592 0.00004
NM_001267550.2(TTN):c.93179G>A (p.Arg31060His) rs776018262 0.00004
NM_001267550.2(TTN):c.96390G>A (p.Thr32130=) rs200999706 0.00004
NM_001289808.2(CRYAB):c.60C>T (p.Pro20=) rs4252582 0.00004
NM_001291867.2(NHS):c.2663T>C (p.Met888Thr) rs200321491 0.00004
NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu) rs558548172 0.00004
NM_001943.5(DSG2):c.273A>G (p.Gly91=) rs376944801 0.00004
NM_001943.5(DSG2):c.390C>T (p.Tyr130=) rs369489095 0.00004
NM_002230.4(JUP):c.1902G>T (p.Leu634=) rs145808264 0.00004
NM_003119.4(SPG7):c.1422C>T (p.His474=) rs201482100 0.00004
NM_003334.4(UBA1):c.2376G>A (p.Gln792=) rs782085921 0.00004
NM_004006.3(DMD):c.4275A>G (p.Glu1425=) rs72468647 0.00004
NM_004415.4(DSP):c.939C>T (p.Ser313=) rs766580649 0.00004
NM_007078.3(LDB3):c.689+3861C>T rs754704023 0.00004
NM_007078.3(LDB3):c.944C>T (p.Pro315Leu) rs371649487 0.00004
NM_014000.3(VCL):c.1177-14G>A rs778137720 0.00004
NM_016203.4(PRKAG2):c.312C>T (p.Thr104=) rs397517268 0.00004
NM_016203.4(PRKAG2):c.981A>G (p.Leu327=) rs764162597 0.00004
NM_017780.4(CHD7):c.1170T>C (p.Tyr390=) rs554737227 0.00004
NM_020297.4(ABCC9):c.142+19T>A rs547603072 0.00004
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met) rs780389237 0.00004
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr) rs200218585 0.00004
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys) rs45476495 0.00004
NM_033118.4(MYLK2):c.417C>T (p.Ala139=) rs560951755 0.00004
NM_053025.4(MYLK):c.2183G>A (p.Arg728His) rs370154845 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721 0.00003
NM_000059.4(BRCA2):c.9116C>G (p.Pro3039Arg) rs80359167 0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626 0.00003
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp) rs766518430 0.00003
NM_000179.3(MSH6):c.3703C>G (p.Leu1235Val) rs876661084 0.00003
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00003
NM_000249.4(MLH1):c.1487C>T (p.Pro496Leu) rs63750226 0.00003
NM_000257.4(MYH7):c.1325G>A (p.Arg442His) rs730880870 0.00003
NM_000257.4(MYH7):c.1983C>T (p.Asn661=) rs146474860 0.00003
NM_000257.4(MYH7):c.531C>T (p.Thr177=) rs200035152 0.00003
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590 0.00003
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys) rs550562774 0.00003
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=) rs561922849 0.00003
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220 0.00003
NM_000335.5(SCN5A):c.4071G>A (p.Gly1357=) rs780532060 0.00003
NM_000384.3(APOB):c.11503A>C (p.Ile3835Leu) rs776119459 0.00003
NM_000455.5(STK11):c.1200G>A (p.Leu400=) rs368661707 0.00003
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00003
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) rs77932196 0.00003
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00003
NM_001018005.2(TPM1):c.241-8C>T rs765893032 0.00003
NM_001035.3(RYR2):c.12207T>C (p.Cys4069=) rs756280887 0.00003
NM_001035.3(RYR2):c.13666G>A (p.Ala4556Thr) rs189345192 0.00003
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954 0.00003
NM_001267550.2(TTN):c.100766-9dup rs202238743 0.00003
NM_001267550.2(TTN):c.22942G>A (p.Glu7648Lys) rs397517502 0.00003
NM_001267550.2(TTN):c.26944G>A (p.Ala8982Thr) rs1384345252 0.00003
NM_001267550.2(TTN):c.33172+14A>G rs752797605 0.00003
NM_001267550.2(TTN):c.44367C>T (p.Tyr14789=) rs750270873 0.00003
NM_001267550.2(TTN):c.50355-15T>C rs757425897 0.00003
NM_001267550.2(TTN):c.51483G>A (p.Ala17161=) rs397517604 0.00003
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=) rs553313488 0.00003
NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly) rs727504490 0.00003
NM_001267550.2(TTN):c.73782C>T (p.Leu24594=) rs187307196 0.00003
NM_001267550.2(TTN):c.87815A>G (p.Tyr29272Cys) rs886039083 0.00003
NM_001267550.2(TTN):c.96960T>C (p.Ala32320=) rs141431591 0.00003
NM_001329943.3(KIAA0586):c.2536del (p.Val846fs) rs1307758243 0.00003
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile) rs121909767 0.00003
NM_001972.4(ELANE):c.201G>T (p.Ser67=) rs200254961 0.00003
NM_002230.4(JUP):c.335A>G (p.Asn112Ser) rs372364561 0.00003
NM_002471.4(MYH6):c.3909G>C (p.Leu1303=) rs572682388 0.00003
NM_002529.4(NTRK1):c.117C>T (p.Ala39=) rs746293720 0.00003
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser) rs751437780 0.00003
NM_004006.3(DMD):c.6614+7C>T rs180719577 0.00003
NM_004281.4(BAG3):c.483G>A (p.Gln161=) rs758279156 0.00003
NM_004415.4(DSP):c.1904-17C>G rs370715047 0.00003
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met) rs535202724 0.00003
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426 0.00003
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val) rs372331627 0.00003
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00003
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413 0.00003
NM_014000.3(VCL):c.2265T>C (p.Ser755=) rs147887754 0.00003
NM_014615.5(GSE1):c.2882C>T (p.Ser961Leu) rs758342626 0.00003
NM_015909.4(NBAS):c.6311G>A (p.Arg2104Gln) rs773412024 0.00003
NM_020774.4(MIB1):c.2305C>T (p.Arg769Ter) rs752243957 0.00003
NM_022114.4(PRDM16):c.2259C>T (p.Ala753=) rs548246861 0.00003
NM_022114.4(PRDM16):c.2663G>A (p.Arg888Gln) rs201119848 0.00003
NM_024079.5(ALG8):c.685C>T (p.Arg229Ter) rs533704173 0.00003
NM_133379.5(TTN):c.11928G>A (p.Thr3976=) rs548317101 0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483 0.00003
NM_153252.5(BRWD3):c.2096G>A (p.Arg699Gln) rs777374143 0.00003
NM_153704.6(TMEM67):c.651+2T>G rs199821258 0.00003
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433 0.00003
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985 0.00002
NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg) rs80358466 0.00002
NM_000059.4(BRCA2):c.7507G>A (p.Val2503Ile) rs587782191 0.00002
NM_000059.4(BRCA2):c.8360G>A (p.Arg2787His) rs80359078 0.00002
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612 0.00002
NM_000249.4(MLH1):c.303T>G (p.Gly101=) rs4647220 0.00002
NM_000251.3(MSH2):c.581T>C (p.Ile194Thr) rs730881778 0.00002
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534 0.00002
NM_000256.3(MYBPC3):c.2112C>T (p.Asp704=) rs547477069 0.00002
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=) rs200728597 0.00002
NM_000257.4(MYH7):c.706G>A (p.Val236Ile) rs397516261 0.00002
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr) rs765729815 0.00002
NM_000335.5(SCN5A):c.1308G>A (p.Glu436=) rs555224775 0.00002
NM_000527.4(LDLR):c.1690A>C (p.Asn564His) rs397509365 0.00002
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser) rs730882096 0.00002
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr) rs727503373 0.00002
NM_001035.3(RYR2):c.12111C>T (p.Pro4037=) rs770463326 0.00002
NM_001127178.3(PIGG):c.2624_2625del (p.Gly874_Leu875insTer) rs771819481 0.00002
NM_001127222.2(CACNA1A):c.6013G>A (p.Ala2005Thr) rs374063403 0.00002
NM_001159699.2(FHL1):c.737-12_737-8del rs761074507 0.00002
NM_001267550.2(TTN):c.17319C>T (p.Asp5773=) rs760724229 0.00002
NM_001267550.2(TTN):c.39786A>G (p.Glu13262=) rs398124450 0.00002
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00002
NM_001267550.2(TTN):c.44472T>C (p.Asp14824=) rs377441854 0.00002
NM_001267550.2(TTN):c.45567C>T (p.Tyr15189=) rs1455525236 0.00002
NM_001267550.2(TTN):c.48312+3G>T rs368650224 0.00002
NM_001267550.2(TTN):c.57369C>T (p.Thr19123=) rs199742163 0.00002
NM_001267550.2(TTN):c.57405A>G (p.Gln19135=) rs773605848 0.00002
NM_001267550.2(TTN):c.58351C>T (p.Arg19451Cys) rs763871350 0.00002
NM_001267550.2(TTN):c.65319T>C (p.Thr21773=) rs746956869 0.00002
NM_001267550.2(TTN):c.69554G>A (p.Arg23185Gln) rs201448988 0.00002
NM_001267550.2(TTN):c.7331-11T>C rs1198109375 0.00002
NM_001267550.2(TTN):c.7383G>A (p.Lys2461=) rs752865519 0.00002
NM_001267550.2(TTN):c.74378C>T (p.Ser24793Leu) rs766741890 0.00002
NM_001267550.2(TTN):c.74413G>A (p.Val24805Ile) rs371306826 0.00002
NM_001267550.2(TTN):c.79545C>T (p.Gly26515=) rs761713195 0.00002
NM_001267550.2(TTN):c.92152+7T>G rs574211300 0.00002
NM_001267550.2(TTN):c.95877G>A (p.Val31959=) rs373041862 0.00002
NM_001289808.2(CRYAB):c.516C>A (p.Ala172=) rs143500486 0.00002
NM_001846.4(COL4A2):c.360+2T>C rs2139454253 0.00002
NM_001943.5(DSG2):c.3225G>A (p.Thr1075=) rs773954315 0.00002
NM_002230.4(JUP):c.654G>A (p.Gly218=) rs112105828 0.00002
NM_002471.4(MYH6):c.1086C>T (p.Asn362=) rs375189593 0.00002
NM_002666.5(PLIN1):c.1204G>A (p.Val402Met) rs189637126 0.00002
NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys) rs111033568 0.00002
NM_002878.4(RAD51D):c.576+1G>A rs781161543 0.00002
NM_004006.3(DMD):c.6072T>C (p.Cys2024=) rs373804251 0.00002
NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln) rs1126568 0.00002
NM_005477.3(HCN4):c.1053C>T (p.Pro351=) rs773287506 0.00002
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194 0.00002
NM_007294.4(BRCA1):c.4054G>A (p.Glu1352Lys) rs80357202 0.00002
NM_012200.4(B3GAT3):c.1A>T (p.Met1Leu) rs139759238 0.00002
NM_013266.4(CTNNA3):c.1248G>A (p.Ala416=) rs1046657762 0.00002
NM_014639.4(SKIC3):c.2369C>T (p.Ala790Val) rs750530127 0.00002
NM_014855.3(AP5Z1):c.1312-2A>G rs989538601 0.00002
NM_017617.5(NOTCH1):c.1801G>A (p.Glu601Lys) rs749381544 0.00002
NM_020433.5(JPH2):c.820G>A (p.Asp274Asn) rs376694047 0.00002
NM_020778.5(ALPK3):c.4130-1G>A rs762110595 0.00002
NM_022114.4(PRDM16):c.801G>A (p.Glu267=) rs369972213 0.00002
NM_022455.5(NSD1):c.3286C>T (p.His1096Tyr) rs202208033 0.00002
NM_024422.6(DSC2):c.943-1G>A rs796756333 0.00002
NM_032578.4(MYPN):c.3711G>A (p.Lys1237=) rs773992843 0.00002
NM_133379.5(TTN):c.13290T>C (p.Ser4430=) rs571273316 0.00002
NM_152296.5(ATP1A3):c.207A>T (p.Ala69=) rs200616931 0.00002
NM_206926.2(SELENON):c.1325C>T (p.Ser442Leu) rs368377980 0.00002
NM_213599.3(ANO5):c.1689T>C (p.Phe563=) rs527322470 0.00002
NC_000011.10:g.47335082_47335083del rs397515990 0.00001
NM_000033.4(ABCD1):c.1261G>A (p.Glu421Lys) rs1255903649 0.00001
NM_000051.4(ATM):c.1898+2T>G rs587782124 0.00001
NM_000051.4(ATM):c.2466A>G (p.Leu822=) rs747108452 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000053.4(ATP7B):c.51+4A>T rs369488210 0.00001
NM_000059.4(BRCA2):c.1342C>T (p.Arg448Cys) rs80358422 0.00001
NM_000059.4(BRCA2):c.1860T>G (p.Phe620Leu) rs1064793402 0.00001
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His) rs56404215 0.00001
NM_000059.4(BRCA2):c.2924T>A (p.Ile975Asn) rs398122756 0.00001
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815 0.00001
NM_000059.4(BRCA2):c.6101G>A (p.Arg2034His) rs80358849 0.00001
NM_000059.4(BRCA2):c.6399_6401del (p.Asn2135del) rs80359581 0.00001
NM_000059.4(BRCA2):c.6458C>T (p.Pro2153Leu) rs276174873 0.00001
NM_000059.4(BRCA2):c.7232A>C (p.Lys2411Thr) rs80358950 0.00001
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) rs41293511 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000094.4(COL7A1):c.6994C>T (p.Arg2332Ter) rs765027608 0.00001
NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=) rs797040235 0.00001
NM_000117.3(EMD):c.149C>A (p.Pro50His) rs782021157 0.00001
NM_000143.4(FH):c.648T>A (p.Asp216Glu) rs199536615 0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met) rs386833587 0.00001
NM_000179.3(MSH6):c.3679A>T (p.Ile1227Leu) rs587779282 0.00001
NM_000215.4(JAK3):c.3208-1G>A rs1160856608 0.00001
NM_000251.3(MSH2):c.383T>G (p.Leu128Arg) rs730881768 0.00001
NM_000252.3(MTM1):c.1469A>G (p.Lys490Arg) rs781948606 0.00001
NM_000257.4(MYH7):c.1633G>A (p.Asp545Asn) rs564101364 0.00001
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys) rs727504240 0.00001
NM_000257.4(MYH7):c.2727C>A (p.Ile909=) rs377722048 0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000257.4(MYH7):c.4817G>A (p.Arg1606His) rs373514686 0.00001
NM_000257.4(MYH7):c.896-17C>T rs569428750 0.00001
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336 0.00001
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter) rs199422211 0.00001
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly) rs80338704 0.00001
NM_000335.5(SCN5A):c.1050C>T (p.His350=) rs587781160 0.00001
NM_000335.5(SCN5A):c.1716C>T (p.Ala572=) rs796636336 0.00001
NM_000335.5(SCN5A):c.3148G>A (p.Ala1050Thr) rs1373296470 0.00001
NM_000335.5(SCN5A):c.5664C>T (p.Tyr1888=) rs1438433663 0.00001
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) rs104894724 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe) rs727504242 0.00001
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly) rs398122959 0.00001
NM_000443.4(ABCB4):c.1938T>C (p.Asp646=) rs553616378 0.00001
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) rs121909005 0.00001
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn) rs74503330 0.00001
NM_000527.4(LDLR):c.313+1G>A rs112029328 0.00001
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr) rs28942079 0.00001
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala) rs779732323 0.00001
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213 0.00001
NM_000527.5(LDLR):c.1359-1G>A rs139617694 0.00001
NM_000527.5(LDLR):c.191-2A>G rs544203837 0.00001
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro) rs193922570 0.00001
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917 0.00001
NM_000535.7(PMS2):c.354C>T (p.Ser118=) rs760615315 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000548.5(TSC2):c.599+3A>G rs397514899 0.00001
NM_001005242.3(PKP2):c.2070C>G (p.Thr690=) rs587781109 0.00001
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys) rs764698152 0.00001
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys) rs533330664 0.00001
NM_001110792.2(MECP2):c.587C>G (p.Thr196Ser) rs782419414 0.00001
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln) rs267607001 0.00001
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter) rs1393804220 0.00001
NM_001198800.3(ASCC1):c.626+1G>A rs747595523 0.00001
NM_001267550.2(TTN):c.101728G>A (p.Glu33910Lys) rs943777958 0.00001
NM_001267550.2(TTN):c.104082A>G (p.Ser34694=) rs1413571023 0.00001
NM_001267550.2(TTN):c.105049A>G (p.Thr35017Ala) rs368779151 0.00001
NM_001267550.2(TTN):c.1089G>A (p.Thr363=) rs528675109 0.00001
NM_001267550.2(TTN):c.11605G>C (p.Val3869Leu) rs747929496 0.00001
NM_001267550.2(TTN):c.1920G>A (p.Val640=) rs1361872004 0.00001
NM_001267550.2(TTN):c.21570T>G (p.Thr7190=) rs889991615 0.00001
NM_001267550.2(TTN):c.2229C>T (p.Ala743=) rs746990488 0.00001
NM_001267550.2(TTN):c.22629G>A (p.Pro7543=) rs776917811 0.00001
NM_001267550.2(TTN):c.23469A>G (p.Pro7823=) rs551736293 0.00001
NM_001267550.2(TTN):c.26116G>A (p.Asp8706Asn) rs377074955 0.00001
NM_001267550.2(TTN):c.26247T>C (p.Val8749=) rs765248456 0.00001
NM_001267550.2(TTN):c.27312A>G (p.Thr9104=) rs192433938 0.00001
NM_001267550.2(TTN):c.28353C>T (p.Ser9451=) rs777096848 0.00001
NM_001267550.2(TTN):c.30539-19A>G rs1343835676 0.00001
NM_001267550.2(TTN):c.33664+5A>G rs548811016 0.00001
NM_001267550.2(TTN):c.42750G>A (p.Leu14250=) rs1273953637 0.00001
NM_001267550.2(TTN):c.47258G>A (p.Arg15753Lys) rs577133803 0.00001
NM_001267550.2(TTN):c.5106A>G (p.Lys1702=) rs1223225845 0.00001
NM_001267550.2(TTN):c.53581+19T>C rs764528095 0.00001
NM_001267550.2(TTN):c.58299T>G (p.Thr19433=) rs778334134 0.00001
NM_001267550.2(TTN):c.63516G>A (p.Pro21172=) rs372493799 0.00001
NM_001267550.2(TTN):c.68421A>C (p.Gly22807=) rs565644396 0.00001
NM_001267550.2(TTN):c.69630C>T (p.Tyr23210=) rs777602537 0.00001
NM_001267550.2(TTN):c.70854A>G (p.Glu23618=) rs768115158 0.00001
NM_001267550.2(TTN):c.90799A>G (p.Thr30267Ala) rs377365979 0.00001
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter) rs146572907 0.00001
NM_001267550.2(TTN):c.97192+6G>A rs367760700 0.00001
NM_001267550.2(TTN):c.98781T>C (p.Ser32927=) rs750855113 0.00001
NM_001276345.2(TNNT2):c.431G>A (p.Arg144Gln) rs754037135 0.00001
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860 0.00001
NM_001372044.2(SHANK3):c.2455+1G>A rs1396379503 0.00001
NM_001458.5(FLNC):c.3180del (p.Asp1061fs) rs1064795229 0.00001
NM_001927.4(DES):c.894G>A (p.Ser298=) rs747073500 0.00001
NM_001943.5(DSG2):c.222T>C (p.His74=) rs367797047 0.00001
NM_002294.3(LAMP2):c.209G>T (p.Gly70Val) rs1340367353 0.00001
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) rs111033560 0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys) rs200245469 0.00001
NM_003172.4(SURF1):c.269T>C (p.Leu90Pro) rs782024654 0.00001
NM_004100.5(EYA4):c.888G>A (p.Ser296=) rs768010410 0.00001
NM_004360.5(CDH1):c.27G>A (p.Ser9=) rs786201257 0.00001
NM_004415.4(DSP):c.939+1G>A rs727504443 0.00001
NM_004722.4(AP4M1):c.1137+1G>T rs770705832 0.00001
NM_005159.5(ACTC1):c.129+19_129+20insT rs386134228 0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 0.00001
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp) rs267607061 0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007294.4(BRCA1):c.2005A>G (p.Met669Val) rs561988641 0.00001
NM_007294.4(BRCA1):c.212+3A>G rs80358083 0.00001
NM_007294.4(BRCA1):c.2393C>T (p.Pro798Leu) rs876660005 0.00001
NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys) rs80356988 0.00001
NM_007294.4(BRCA1):c.4776C>G (p.Asn1592Lys) rs761925468 0.00001
NM_007294.4(BRCA1):c.4986+6T>C rs80358086 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_014000.3(VCL):c.3154-6C>T rs371257509 0.00001
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120 0.00001
NM_014391.3(ANKRD1):c.560C>T (p.Ser187Phe) rs397517251 0.00001
NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter) rs193919337 0.00001
NM_017807.4(OSGEP):c.332T>C (p.Ile111Thr) rs1443735811 0.00001
NM_017837.4(PIGV):c.494C>A (p.Ala165Glu) rs376328153 0.00001
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009 0.00001
NM_020549.5(CHAT):c.1679G>A (p.Arg560His) rs121912819 0.00001
NM_020778.5(ALPK3):c.3867C>T (p.Ser1289=) rs188837127 0.00001
NM_020778.5(ALPK3):c.428G>A (p.Arg143Gln) rs372329290 0.00001
NM_020964.3(EPG5):c.5869+1G>A rs748670315 0.00001
NM_022114.4(PRDM16):c.3288G>A (p.Ala1096=) rs754951901 0.00001
NM_024675.4(PALB2):c.3113+5G>C rs876659463 0.00001
NM_032578.4(MYPN):c.3075+20C>T rs377273417 0.00001
NM_033337.3(CAV3):c.165C>T (p.Asp55=) rs759446749 0.00001
NM_058216.3(RAD51C):c.904+5G>T rs587782702 0.00001
NM_133379.5(TTN):c.10842A>G (p.Glu3614=) rs796091067 0.00001
NM_133379.5(TTN):c.14055A>G (p.Arg4685=) rs1466986172 0.00001
NM_144573.4(NEXN):c.66T>C (p.Tyr22=) rs749182975 0.00001
NM_144997.7(FLCN):c.1022G>A (p.Arg341Gln) rs375352888 0.00001
NM_152384.3(BBS5):c.209-2A>G rs1477098739 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NM_170707.4(LMNA):c.1583C>T (p.Thr528Met) rs57629361 0.00001
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_000027.4(AGA):c.336del (p.Ile112fs) rs386833422
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.2995C>T (p.Gln999Ter) rs75239284
NM_000038.6(APC):c.423-17dup rs35031194
NM_000038.6(APC):c.423-4del rs730881230
NM_000044.6(AR):c.171GCA[24] (p.Gln80dup) rs3032358
NM_000049.4(ASPA):c.693C>T (p.Tyr231=) rs12948217
NM_000051.4(ATM):c.1236-3del rs34325032
NM_000051.4(ATM):c.1236-3dup rs34325032
NM_000051.4(ATM):c.3285-9del rs1799757
NM_000051.4(ATM):c.331+5G>A rs752135143
NM_000051.4(ATM):c.3403-13dup rs3218681
NM_000051.4(ATM):c.4879C>T (p.Gln1627Ter) rs886039592
NM_000051.4(ATM):c.497-4del rs768748099
NM_000051.4(ATM):c.497-4dup rs768748099
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter) rs876660382
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.10094_10095insGAATTATAT (p.Val3365_Ser3366insAsnTyrIle) rs758307938
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs) rs80359276
NM_000059.4(BRCA2):c.1816C>T (p.Pro606Ser) rs765924757
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.4(BRCA2):c.5117A>C (p.Asn1706Thr) rs730881536
NM_000059.4(BRCA2):c.5281G>T (p.Gly1761Ter) rs886038122
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.575T>C (p.Met192Thr) rs80358805
NM_000059.4(BRCA2):c.6369A>C (p.Glu2123Asp) rs1064793571
NM_000059.4(BRCA2):c.7051G>T (p.Ala2351Ser) rs80358930
NM_000059.4(BRCA2):c.7370T>G (p.Phe2457Cys) rs876661273
NM_000059.4(BRCA2):c.7940T>C (p.Leu2647Pro) rs80359021
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter) rs80359046
NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val) rs41293513
NM_000059.4(BRCA2):c.8332-2A>G rs587782774
NM_000059.4(BRCA2):c.8632+1G>T rs397507997
NM_000059.4(BRCA2):c.8754+5G>A rs81002813
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000081.4(LYST):c.11268-5del rs36014994
NM_000085.5(CLCNKB):c.2017-16C>T rs61769892
NM_000094.4(COL7A1):c.7875+1G>C rs2107637140
NM_000096.4(CP):c.2286-14dup rs561633350
NM_000096.4(CP):c.2286-15G>T rs34861155
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys) rs375968699
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=) rs376379156
NM_000138.5(FBN1):c.5423-30_5423-28del rs56354352
NM_000140.5(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479
NM_000153.3(GALC):c.1834+22dup rs34752717
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000168.6(GLI3):c.4431dup (p.Glu1478Ter) rs1057520063
NM_000170.3(GLDC):c.27del (p.Leu10fs) rs1414541286
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000179.3(MSH6):c.3557-4del rs267608102
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4001+2TAAC[4] rs267608132
NM_000179.3(MSH6):c.4002-10dup rs59056100
NM_000179.3(MSH6):c.4002-11_4002-10del rs59056100
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000181.4(GUSB):c.1790-18dup rs750022485
NM_000186.4(CFH):c.3134-5T>C rs513699
NM_000194.3(HPRT1):c.319-7dup rs371480320
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000208.4(INSR):c.653-23TC[9] rs3835070
NM_000213.5(ITGB4):c.2009G>A (p.Arg670His) rs149659118
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg) rs863223650
NM_000224.3(KRT18):c.268C>T (p.Arg90Cys) rs1397020078
NM_000224.3(KRT18):c.274G>C (p.Ala92Pro) rs1434610693
NM_000224.3(KRT18):c.300C>G (p.Ser100Arg) rs796361379
NM_000235.4(LIPA):c.45G>A (p.Trp15Ter) rs2133468001
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000249.4(MLH1):c.1039-8_1039-7insTA rs535965616
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTTTA rs535965616
NM_000249.4(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.4(MLH1):c.454-13A>G rs267607749
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000251.3(MSH2):c.1237C>T (p.Gln413Ter) rs863225387
NM_000251.3(MSH2):c.1661+5G>T rs267607972
NM_000251.3(MSH2):c.942+17_942+29del rs11309117
NM_000251.3(MSH2):c.942+25_942+29del rs11309117
NM_000251.3(MSH2):c.942+29del rs11309117
NM_000256.3(MYBPC3):c.1090+1G>A rs727504269
NM_000256.3(MYBPC3):c.1311G>C (p.Val437=) rs1060504240
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.1696T>C (p.Cys566Arg) rs730880695
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2334C>G (p.Asp778Glu) rs2069544
NM_000257.4(MYH7):c.2358G>T (p.Thr786=) rs36211714
NM_000257.4(MYH7):c.2863G>A (p.Asp955Asn) rs886039204
NM_000257.4(MYH7):c.4954-5C>T rs962469283
NM_000257.4(MYH7):c.5534G>A (p.Arg1845Gln) rs730880822
NM_000257.4(MYH7):c.5773C>G (p.Arg1925Gly) rs755706526
NM_000264.5(PTCH1):c.1602+15_1602+17del rs528001004
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg) rs2058768195
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+8_1947+10dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+9dup rs3837910
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del) rs775982338
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del) rs72555383
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.781C>T (p.Gln261Ter) rs730882131
NM_000314.8(PTEN):c.802-3del rs34003473
NM_000314.8(PTEN):c.802-3dup rs34003473
NM_000314.8(PTEN):c.802-4_802-3dup rs34003473
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.2787+19AC[12] rs41311517
NM_000335.5(SCN5A):c.2787+19AC[13] rs41311517
NM_000335.5(SCN5A):c.327C>T (p.Asn109=) rs199473056
NM_000335.5(SCN5A):c.3468C>T (p.Leu1156=) rs570719978
NM_000335.5(SCN5A):c.5123C>T (p.Thr1708Met) rs199473297
NM_000337.6(SGCD):c.383-33CTCTCTAT[2] rs727504998
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000350.3(ABCA4):c.2947A>G (p.Thr983Ala) rs1368508052
NM_000363.5(TNNI3):c.626A>C (p.Glu209Ala) rs730881083
NM_000370.3(TTPA):c.487del (p.Trp163fs) rs397515378
NM_000371.4(TTR):c.325G>A (p.Glu109Lys) rs121918082
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs) rs387906256
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1]) rs17240441
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu) rs676210
NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys) rs397515624
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000421.5(KRT10):c.1457_1458insAAGCT (p.His487fs) rs762667965
NM_000432.4(MYL2):c.274+16_274+17insTC rs200007468
NM_000432.4(MYL2):c.483C>A (p.His161Gln) rs886039108
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp) rs13306575
NM_000448.3(RAG1):c.140del (p.Lys47fs) rs2133292794
NM_000455.5(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000474.4(TWIST1):c.245GCG[6] (p.Gly86dup) rs754552080
NM_000478.6(ALPL):c.472+12del rs35423948
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del) rs398123423
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro) rs77932196
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser) rs2071307
NM_000506.5(F2):c.423-7G>C rs2070852
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.5(LDLR):c.1329G>T (p.Trp443Cys) rs879254867
NM_000527.5(LDLR):c.1359-30C>T rs1003723
NM_000527.5(LDLR):c.1414G>A (p.Asp472Asn) rs730882102
NM_000527.5(LDLR):c.1475A>G (p.Asp492Gly) rs879254918
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1549T>C (p.Ser517Pro) rs879254936
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.5(LDLR):c.1843G>A (p.Glu615Lys) rs879255045
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del) rs875989944
NM_000527.5(LDLR):c.28T>C (p.Trp10Arg) rs879254386
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.251-2A>C rs587779340
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000535.7(PMS2):c.706-4dup rs60794673
NM_000535.7(PMS2):c.706-5_706-4del rs60794673
NM_000540.3(RYR1):c.5435T>C (p.Leu1812Pro) rs1969278145
NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del) rs775860642
NM_000548.5(TSC2):c.-29-10G>C rs28537973
NM_000733.4(CD3E):c.211G>C (p.Asp71His) rs148647954
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_001005242.3(PKP2):c.1557-8dup rs200009796
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001009944.3(PKD1):c.8666_8674del (p.Ser2889_Ala2891del) rs771434359
NM_001012339.3(DNAJC21):c.1016G>A (p.Arg339Gln) rs142389949
NM_001017420.3(ESCO2):c.879_880del (p.Arg293fs) rs80359857
NM_001018005.2(TPM1):c.184G>C (p.Glu62Gln) rs199476305
NM_001018005.2(TPM1):c.602C>T (p.Thr201Met) rs730881141
NM_001018115.3(FANCD2):c.1275C>T (p.Tyr425=) rs764447374
NM_001035.2(RYR2):c.14091-11dup rs35563566
NM_001035.3(RYR2):c.1293-14A>G rs752527636
NM_001035.3(RYR2):c.1477-11dup rs397516518
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001035.3(RYR2):c.310-23_310-21del rs547213887
NM_001035.3(RYR2):c.3599-9del rs11331089
NM_001035.3(RYR2):c.4597-11del rs3841805
NM_001040142.2(SCN2A):c.1399G>T (p.Ala467Ser) rs745774658
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met) rs1057520413
NM_001042492.3(NF1):c.3772T>C (p.Trp1258Arg) rs1597722508
NM_001042492.3(NF1):c.4332+22_4332+25del rs768273651
NM_001042492.3(NF1):c.61-4del rs551568608
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001044385.3(TMEM237):c.870-13_870-12del rs555284377
NM_001048174.2(MUTYH):c.1363A>C (p.Thr455Pro) rs1570363119
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001080.3(ALDH5A1):c.678G>C (p.Val226=) rs113591366
NM_001099857.5(IKBKG):c.1219A>G (p.Met407Val) rs137853322
NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del) rs772766102
NM_001099922.3(ALG13):c.2797CCT[12] (p.Pro945del) rs56717389
NM_001105206.3(LAMA4):c.264C>T (p.Ser88=) rs201152817
NM_001110792.2(MECP2):c.414-17del rs61753982
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup) rs398123566
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.6937CAG[11] (p.Gln2324_Gln2325del) rs16054
NM_001127222.2(CACNA1A):c.6937CAG[14] (p.Gln2325dup) rs16054
NM_001127222.2(CACNA1A):c.6937CAG[15] (p.Gln2324_Gln2325dup) rs16054
NM_001127644.2(GABRA1):c.857-9del rs3214859
NM_001128164.2(ATXN1):c.636GCA[15] (p.Gln225dup) rs751421308
NM_001130144.3(LTBP3):c.76CTG[11] (p.Leu35dup) rs71036212
NM_001130144.3(LTBP3):c.76CTG[13] (p.Leu33_Leu35dup) rs71036212
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001134363.3(RBM20):c.146_147del (p.Gln49fs) rs2134793110
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp) rs796734066
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr) rs753102653
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_001134831.2(AHI1):c.96dup (p.Leu33fs) rs747322175
NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup) rs755226463
NM_001146262.4(SYT14):c.672AGA[1] (p.Glu225del) rs2307890
NM_001159699.2(FHL1):c.204+14C>G rs2148372078
NM_001160148.2(DDHD1):c.325GGC[7] (p.Gly110_Gly112dup) rs55671452
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup) rs572827902
NM_001164508.2(NEB):c.17635-3dup rs3214503
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter) rs794726799
NM_001165963.4(SCN1A):c.2177-11dup rs11394960
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001166108.2(PALLD):c.1965-12758G>C rs777359545
NM_001166108.2(PALLD):c.1965-12764G>C rs863224384
NM_001166355.2(LFNG):c.163_166dup (p.Glu56delinsGlyTer) rs34637446
NM_001183.6(ATP6AP1):c.96GGC[9] (p.Ala40_Ala41dup) rs781797236
NM_001190274.2(FBXO11):c.149AGC[8] (p.Gln56dup) rs746953076
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter) rs1057523275
NM_001256715.2(DNAAF3):c.1093= (p.Asn365=) rs890872
NM_001261826.3(AP3D1):c.2587GAGAAG[1] (p.863EK[1]) rs756601658
NM_001267550.2(TTN):c.11311+1080del rs58651353
NM_001267550.2(TTN):c.12780G>T (p.Ala4260=) rs746578
NM_001267550.2(TTN):c.14092+20del rs560021681
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.1560A>G (p.Thr520=) rs2154354699
NM_001267550.2(TTN):c.16621+16T>G rs2154310257
NM_001267550.2(TTN):c.177C>A (p.Ser59Arg) rs191057824
NM_001267550.2(TTN):c.18075C>T (p.Pro6025=) rs557350005
NM_001267550.2(TTN):c.18590-3del rs1336631346
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) rs149523263
NM_001267550.2(TTN):c.26762-39TTTGT[10] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[5] rs71393436
NM_001267550.2(TTN):c.2775+19G>T rs199707799
NM_001267550.2(TTN):c.30683-17dup rs368277751
NM_001267550.2(TTN):c.31762+5_31762+7del rs397517538
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[3] (p.11363VLPEEEE[5]) rs397517548
NM_001267550.2(TTN):c.34708+9G>T rs397517551
NM_001267550.2(TTN):c.3742_3745del (p.Ser1248fs) rs2154347788
NM_001267550.2(TTN):c.38708-4T>C rs200819643
NM_001267550.2(TTN):c.38929C>T (p.Pro12977Ser) rs150223722
NM_001267550.2(TTN):c.40222+2TA[10] rs10580462
NM_001267550.2(TTN):c.40222+2TA[12] rs10580462
NM_001267550.2(TTN):c.40222+2TA[9] rs10580462
NM_001267550.2(TTN):c.41329+1G>T rs796238032
NM_001267550.2(TTN):c.4289C>A (p.Ala1430Glu) rs577298130
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.49263C>A (p.Tyr16421Ter) rs376188859
NM_001267550.2(TTN):c.49814T>G (p.Val16605Gly) rs781195013
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter) rs751502842
NM_001267550.2(TTN):c.55452A>G (p.Lys18484=) rs551509361
NM_001267550.2(TTN):c.57847+19del rs111496283
NM_001267550.2(TTN):c.57847+7dup rs111496283
NM_001267550.2(TTN):c.58388del (p.Asn19463fs) rs2050854171
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs) rs886039027
NM_001267550.2(TTN):c.59926+1G>A rs553526525
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu) rs141142920
NM_001267550.2(TTN):c.63793+1G>A rs2154182296
NM_001267550.2(TTN):c.63794-1G>A rs2049262622
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=) rs72646894
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del) rs543318580
NM_001267550.2(TTN):c.76739C>T (p.Thr25580Met) rs56372592
NM_001267550.2(TTN):c.77452G>T (p.Glu25818Ter) rs748619096
NM_001267550.2(TTN):c.79018G>T (p.Glu26340Ter) rs2154166071
NM_001267550.2(TTN):c.80530del (p.Ser26844fs) rs2154164929
NM_001267550.2(TTN):c.82255C>T (p.Gln27419Ter) rs2154161716
NM_001267550.2(TTN):c.85809del (p.Lys28603fs) rs796983799
NM_001267550.2(TTN):c.89314G>T (p.Glu29772Ter) rs200503016
NM_001267550.2(TTN):c.90758GAG[2] (p.Gly30255del) rs748912340
NM_001267550.2(TTN):c.92569_92570del (p.Ile30857fs) rs2154147864
NM_001267550.2(TTN):c.96180T>C (p.Ile32060=) rs572401798
NM_001267550.2(TTN):c.98721C>A (p.Leu32907=) rs375361462
NM_001267550.2(TTN):c.98990-1G>T rs796111471
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu) rs397517781
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) rs74315379
NM_001276345.2(TNNT2):c.68-3C>T rs587780970
NM_001276345.2(TNNT2):c.68-5del rs2102295381
NM_001276345.2(TNNT2):c.844C>T (p.Gln282Ter) rs796925245
NM_001277115.2(DNAH11):c.12509C>T (p.Thr4170Ile) rs12537531
NM_001277115.2(DNAH11):c.13128C>A (p.Leu4376=) rs56333627
NM_001278064.2(GRM1):c.2375A>G (p.Tyr792Cys) rs1554308513
NM_001278064.2(GRM1):c.950+8TC[14] rs72225459
NM_001278064.2(GRM1):c.950+8TC[18] rs72225459
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val) rs200930463
NM_001291415.2(KDM6A):c.2859-5del rs10605935
NM_001291415.2(KDM6A):c.42CGC[4] (p.Ala17dup) rs797044622
NM_001292034.3(TAB2):c.899C>A (p.Ser300Ter) rs2114885719
NM_001330078.2(NRXN1):c.772+1128_772+1129del rs1558610072
NM_001332.4(CTNND2):c.1480G>A (p.Gly494Ser) rs34001856
NM_001348716.2(KDM6B):c.2253CAC[10] (p.Thr762del) rs59627144
NM_001348716.2(KDM6B):c.2253CAC[8] (p.Thr760_Thr762del) rs59627144
NM_001348716.2(KDM6B):c.753ACC[10] (p.Pro262_Pro264del) rs61462443
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001354712.2(THRB):c.22+4T>A rs1031696535
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
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_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp) rs117500243
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001365088.1(SLC12A6):c.2023C>T (p.Arg675Ter) rs121908428
NM_001370259.2(MEN1):c.784-19TC[2] rs764290037
NM_001371928.1(AHDC1):c.3234_3242del (p.Thr1079_Ala1081del) rs754444655
NM_001374828.1(ARID1B):c.1170CGG[10] (p.Gly402_Ser403insGlyGly) rs587779747
NM_001374828.1(ARID1B):c.1194AGG[3] (p.Gly402del) rs587779748
NM_001374828.1(ARID1B):c.1211GAG[7] (p.Gly411del) rs747790383
NM_001374828.1(ARID1B):c.1211GAG[9] (p.Gly411_Ala412insGly) rs747790383
NM_001374828.1(ARID1B):c.373GCGGCGGCA[1] (p.Ala128_Ala130del) rs769480864
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter) rs797045282
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln214_His215insGlnGln) rs587779743
NM_001376.5(DYNC1H1):c.962-15dup rs3830914
NM_001378414.1(HDAC4):c.2750+20A>C rs151192501
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del) rs55889738
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3]) rs78227997
NM_001384732.1(CPLANE1):c.8633-3del rs34646696
NM_001386393.1(PANK2):c.1083-13dup rs199905730
NM_001386795.1(DTNA):c.1744-10G>T rs192561043
NM_001388492.1(HTT):c.54GCA[26] (p.Gln32_Gln38dup) rs71180116
NM_001388492.1(HTT):c.58_110= (p.Gln20_Gln37=) rs71180116
NM_001394062.1(MACF1):c.21064G>A (p.Ala7022Thr) rs142006710
NM_001429.4(EP300):c.3671+1G>A rs2059103511
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001453.3(FOXC1):c.83CGGCGGCCG[1] (p.Ala31_Ala33del) rs756196843
NM_001458.5(FLNC):c.1813+2T>C rs113483303
NM_001458.5(FLNC):c.1948C>T (p.Arg650Ter) rs770606675
NM_001458.5(FLNC):c.4456+1G>A rs1318885805
NM_001643.2(APOA2):c.53-43TG[20] rs17244502
NM_001643.2(APOA2):c.53-43TG[21] rs17244502
NM_001807.6(CEL):c.1834G>C (p.Ala612Pro) rs1322454680
NM_001846.4(COL4A2):c.3563-4G>C rs562701263
NM_001854.4(COL11A1):c.652-6del rs36076089
NM_001875.5(CPS1):c.-4_-3insTTC rs61509952
NM_001927.4(DES):c.1353C>G (p.Ile451Met) rs121913002
NM_001940.4(ATN1):c.1464GCA[12] (p.Gln500_Gln502del) rs60216939
NM_001940.4(ATN1):c.1464GCA[14] (p.Gln502del) rs60216939
NM_001940.4(ATN1):c.1464GCA[16] (p.Gln502dup) rs60216939
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002047.4(GARS1):c.47TGC[4] (p.Leu20del) rs150213018
NM_002072.5(GNAQ):c.736-18_736-17dup rs5898555
NM_002076.4(GNS):c.253-10del rs201654719
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_002294.3(LAMP2):c.-4G>C rs200297370
NM_002294.3(LAMP2):c.865-8del rs746330494
NM_002303.6(LEPR):c.1968G>C (p.Lys656Asn) rs1805094
NM_002335.4(LRP5):c.724G>A (p.Ala242Thr) rs121908670
NM_002354.3(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_002470.4(MYH3):c.1960-8del rs3216884
NM_002470.4(MYH3):c.3445G>C (p.Glu1149Gln) rs145785711
NM_002471.4(MYH6):c.2702A>G (p.Asn901Ser) rs1891315952
NM_002471.4(MYH6):c.3343-3del rs1027186100
NM_002471.4(MYH6):c.3609C>G (p.Ala1203=) rs149369904
NM_002471.4(MYH6):c.3979-11C>G rs200618133
NM_002471.4(MYH6):c.3979-14C>A rs372226248
NM_002471.4(MYH6):c.3979-14C>G rs372226248
NM_002471.4(MYH6):c.3979-7T>C rs535111647
NM_002471.4(MYH6):c.3979-7_3979-5del rs397516764
NM_002471.4(MYH6):c.3979-8dup rs193922652
NM_002471.4(MYH6):c.3979-9C>A rs57660219
NM_002471.4(MYH6):c.3979-9C>G rs57660219
NM_002471.4(MYH6):c.4026C>T (p.Cys1342=) rs141062252
NM_002471.4(MYH6):c.4360-7C>T rs58949384
NM_002693.3(POLG):c.126GCA[10] (p.Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[6] (p.Gln51_Gln55del) rs41550117
NM_002693.3(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.3(POLG):c.856-17CTC[4] rs200056162
NM_002693.3(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_002739.5(PRKCG):c.715C>T (p.Arg239Trp) rs1471641294
NM_002745.5(MAPK1):c.5CGG[7] (p.Ala7dup) rs751880548
NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys) rs397507543
NM_002968.3(SALL1):c.448AGC[13] (p.Ser157_Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del) rs113614842
NM_002968.3(SALL1):c.477_478insAGCGGC (p.Ser159_Gly160insSerGly) rs1555475415
NM_003000.3(SDHB):c.653G>C (p.Trp218Ser) rs1553177290
NM_003070.5(SMARCA2):c.669GCA[10] (p.Gln236_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[15] (p.Gln238_Pro239insGlnGln) rs113070757
NM_003070.5(SMARCA2):c.669GCA[16] (p.Gln238_Pro239insGlnGlnGln) rs113070757
NM_003070.5(SMARCA2):c.669GCA[8] (p.Gln234_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.685_686insCGC (p.Gln228_Gln229insPro) rs751906633
NM_003072.5(SMARCA4):c.4170+17C>T rs145829956
NM_003108.4(SOX11):c.1039AGCGGCAGCAGC[3] (p.347SGSS[3]) rs751221446
NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys) rs267607085
NM_003126.4(SPTA1):c.6549-12G>A rs857716
NM_003194.5(TBP):c.226_227insCAA (p.Gln76delinsProLys) rs1779151861
NM_003221.4(TFAP2B):c.540+7ACAA[7] rs368226832
NM_003242.6(TGFBR2):c.383del (p.Lys128fs) rs79375991
NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe) rs3775291
NM_003289.4(TPM2):c.773-3dup rs35401252
NM_003413.4(ZIC3):c.135CGC[10] (p.Ala55dup) rs748325646
NM_003413.4(ZIC3):c.135CGC[6] (p.Ala53_Ala55del) rs748325646
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup) rs398123707
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp) rs587780563
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_003690.5(PRKRA):c.22_23del (p.Ala8fs) rs141354030
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_003737.4(DCHS1):c.76CTG[7] (p.Leu33del) rs72555381
NM_004006.3(DMD):c.*23_*35del rs752332058
NM_004006.3(DMD):c.3603+3_3603+4dup rs5902031
NM_004006.3(DMD):c.3603+3dup rs5902031
NM_004006.3(DMD):c.923C>T (p.Thr308Ile) rs145064612
NM_004168.4(SDHA):c.-7A>C rs751633537
NM_004168.4(SDHA):c.1909-12_1909-11del rs372662724
NM_004168.4(SDHA):c.1945_1946del (p.Leu649fs) rs112307877
NM_004168.4(SDHA):c.1974G>C (p.Pro658=) rs1042446
NM_004168.4(SDHA):c.622-13del rs3835068
NM_004183.4(BEST1):c.715-18TCC[8] rs1805182
NM_004187.5(KDM5C):c.2517-9_2517-7dup rs398124111
NM_004260.4(RECQL4):c.2463+18_2463+19del rs71320828
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln) rs35434411
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727
NM_004316.4(ASCL1):c.151CAG[13] (p.Gln62_Ala63insGln) rs3832799
NM_004316.4(ASCL1):c.151CAG[16] (p.Gln62_Ala63insGlnGlnGlnGln) rs3832799
NM_004316.4(ASCL1):c.151CAG[9] (p.Gln60_Gln62del) rs3832799
NM_004366.6(CLCN2):c.1929CCG[3] (p.Arg646dup) rs545787624
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.3370-16dup rs75459669
NM_004415.4(DSP):c.1670_1671del (p.Ile557fs) rs2113677479
NM_004415.4(DSP):c.2436+16A>G rs199555263
NM_004415.4(DSP):c.2437-11del rs727502998
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) rs746877365
NM_004415.4(DSP):c.423-9dup rs1554105896
NM_004415.4(DSP):c.4608_4612del (p.Arg1537fs) rs796620239
NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter) rs777573018
NM_004415.4(DSP):c.81C>A (p.Arg27=) rs773559423
NM_004456.5(EZH2):c.118-4del rs3214332
NM_004477.3(FRG1):c.630-4A>G rs78181874
NM_004484.4(GPC3):c.1033-4250del rs372010975
NM_004517.4(ILK):c.448+9=
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys) rs118192251
NM_004525.3(LRP2):c.8699-8C>T rs145301652
NM_004577.4(PSPH):c.275+1del rs139106189
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) rs34982899
NM_004655.4(AXIN2):c.2124G>C (p.Ser708=) rs143243661
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter) rs730882249
NM_004958.4(MTOR):c.5502_5519dup (p.Ala1835_Thr1840dup) rs770515802
NM_004960.4(FUS):c.669CGG[7] (p.Gly231dup) rs72550890
NM_004985.5(KRAS):c.528GAA[1] (p.Lys180del) rs397517043
NM_005006.7(NDUFS1):c.154-9del rs568965659
NM_005097.4(LGI1):c.432-6_432-5dup rs61662431
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005121.3(MED13):c.3676C>G (p.Arg1226Gly) rs367927155
NM_005159.5(ACTC1):c.129+18dup rs148433308
NM_005159.5(ACTC1):c.809-58TG[20] rs59431308
NM_005159.5(ACTC1):c.809-58TG[24] rs59431308
NM_005159.5(ACTC1):c.809-58TG[26] rs59431308
NM_005188.4(CBL):c.107ACC[9] (p.His41_His42dup) rs373212940
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup) rs3075570
NM_005263.5(GFI1):c.925-40CT[13] rs35896485
NM_005263.5(GFI1):c.925-40CT[19] rs35896485
NM_005263.5(GFI1):c.925-40CT[22] rs35896485
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter) rs121909305
NM_005445.4(SMC3):c.548-5_548-4dup rs199906378
NM_005477.3(HCN4):c.1441T>C (p.Tyr481His) rs1057519275
NM_005477.3(HCN4):c.1471G>A (p.Asp491Asn) rs1060500107
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_005634.3(SOX3):c.14G>A (p.Arg5Gln) rs112180170
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del) rs779647632
NM_005989.4(AKR1D1):c.379-4del rs35402657
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu) rs1565627304
NM_006015.6(ARID1A):c.3978GCA[9] (p.Gln1334dup) rs374564889
NM_006015.6(ARID1A):c.5717G>A (p.Arg1906Gln) rs41303631
NM_006031.6(PCNT):c.467_505dup (p.His156_Gln168dup) rs587784306
NM_006031.6(PCNT):c.533A>C (p.Gln178Pro) rs200285580
NM_006059.4(LAMC3):c.3070-18dup rs34910694
NM_006079.5(CITED2):c.114CCA[1] (p.His39del) rs749590293
NM_006231.4(POLE):c.2865-4del rs369732588
NM_006231.4(POLE):c.4952+17_4952+19dup rs571641918
NM_006236.3(POU3F3):c.1303_1305del (p.Glu435del) rs2466876904
NM_006393.3(NEBL):c.2519-2del rs754453916
NM_006440.5(TXNRD2):c.1150G>A (p.Gly384Ser) rs192869629
NM_006440.5(TXNRD2):c.64G>A (p.Val22Met) rs370819229
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp) rs1064795331
NM_006828.4(ASCC3):c.1396-3del rs11345864
NM_006846.4(SPINK5):c.2088TGG[2] (p.Gly701del) rs111662216
NM_006940.6(SOX5):c.1673G>A (p.Arg558His) rs2547813307
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp) rs1565669640
NM_007078.3(LDB3):c.465C>T (p.Leu155=) rs45516997
NM_007078.3(LDB3):c.896+6669TC[11] rs71019410
NM_007078.3(LDB3):c.896+6694del rs796095449
NM_007078.3(LDB3):c.94-20C>T rs779928559
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp) rs1554065887
NM_007194.4(CHEK2):c.908+1G>T rs587781699
NM_007294.4(BRCA1):c.134+3A>C rs80358064
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.4(BRCA1):c.2083G>A (p.Asp695Asn) rs28897681
NM_007294.4(BRCA1):c.302-3C>G rs80358051
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter) rs80356923
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer) rs80357572
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala) rs80357132
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_007294.4(BRCA1):c.5406+5G>A rs80358073
NM_007294.4(BRCA1):c.5467G>A (p.Ala1823Thr) rs80357212
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_007294.4(BRCA1):c.811G>C (p.Val271Leu) rs80357244
NM_012179.4(FBXO7):c.1546G>C (p.Asp516His) rs34316445
NM_012200.4(B3GAT3):c.909+262del rs35002433
NM_012200.4(B3GAT3):c.909+270_909+271del rs549953964
NM_012309.5(SHANK2):c.4280G>A (p.Arg1427Gln) rs782253326
NM_012330.4(KAT6B):c.3231_3242del (p.Asp1077_Glu1080del) rs569172957
NM_012330.4(KAT6B):c.3289GAA[7] (p.Glu1104del) rs71929101
NM_012330.4(KAT6B):c.3289GAA[9] (p.Glu1104dup) rs71929101
NM_012330.4(KAT6B):c.4079AAGAGGAAG[2] (p.Glu1366_Glu1368del) rs375513122
NM_012330.4(KAT6B):c.4079AAGAGGAAG[4] (p.Glu1366_Glu1368dup) rs375513122
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) rs143509747
NM_013266.4(CTNNA3):c.1836G>A (p.Lys612=) rs774209973
NM_013275.6(ANKRD11):c.3045C>G (p.Pro1015=) rs150652124
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del) rs387906338
NM_014000.3(VCL):c.1294C>T (p.Leu432=) rs144146254
NM_014000.3(VCL):c.622+4C>G rs201020802
NM_014251.3(SLC25A13):c.1452+19del rs749506606
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu) rs1553317025
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_015046.7(SETX):c.6843-16dup rs34769225
NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr) rs2235967
NM_015450.3(POT1):c.1505+7TGTTT[5] rs66826272
NM_015570.4(AUTS2):c.3377ACC[7] (p.His1133del) rs538005366
NM_015570.4(AUTS2):c.3437G>T (p.Gly1146Val) rs150926322
NM_015726.4(DCAF8):c.297AGAGGA[2] (p.Glu111_Glu112del) rs745776382
NM_016203.4(PRKAG2):c.1106+10dup rs374874465
NM_016492.5(RANGRF):c.181G>T (p.Glu61Ter) rs140704891
NM_017739.4(POMGNT1):c.630G>T (p.Trp210Cys) rs386834033
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg) rs1586393556
NM_018100.4(EFHC1):c.723+106C>T rs190021570
NM_018122.5(DARS2):c.228-16C>G rs778731200
NM_018714.3(COG1):c.903G>C (p.Gln301His) rs117208167
NM_019040.5(ELP4):c.17C>T (p.Thr6Ile) rs760224399
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=) rs10870182
NM_020061.6(OPN1LW):c.538= (p.Ala180=) rs1557157655
NM_020166.5(MCCC1):c.2088dup (p.Val697fs) rs746267545
NM_020297.4(ABCC9):c.1165-6del rs35857705
NM_020297.4(ABCC9):c.1165-6dup rs35857705
NM_020297.4(ABCC9):c.1165-7_1165-6del rs35857705
NM_020297.4(ABCC9):c.2644-11G>A rs61926078
NM_020297.4(ABCC9):c.4450-6_4450-5del rs4148680
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT rs869025349
NM_020297.4(ABCC9):c.817-7del rs193922684
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358
NM_020778.5(ALPK3):c.1688T>C (p.Met563Thr) rs150028343
NM_020778.5(ALPK3):c.4391del (p.Asn1464fs) rs1450218521
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_021072.4(HCN1):c.192TGGCGGCGG[3] (p.Gly72_Gly74dup) rs56064803
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del) rs747975797
NM_021072.4(HCN1):c.203GCG[5] (p.Gly73_Gly74del) rs747975797
NM_021978.4(ST14):c.1224-6dup rs11368852
NM_022089.4(ATP13A2):c.3235+44_3235+55del rs143483351
NM_022114.4(PRDM16):c.-14C>A rs180925565
NM_022114.4(PRDM16):c.2448C>T (p.Asn816=) rs372189819
NM_022114.4(PRDM16):c.2468G>C (p.Arg823Pro) rs371654192
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_022356.4(P3H1):c.2148= (p.Gly716=) rs4660662
NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys) rs4148217
NM_024334.3(TMEM43):c.1061G>C (p.Cys354Ser) rs187262922
NM_024334.3(TMEM43):c.163-3del rs371706980
NM_024334.3(TMEM43):c.512+19G>T rs114026215
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile) rs17024517
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024496.4(IRF2BPL):c.462CGC[11] (p.Ala163_Ala164dup) rs371633333
NM_024496.4(IRF2BPL):c.462CGC[6] (p.Ala162_Ala164del) rs371633333
NM_024496.4(IRF2BPL):c.462CGC[8] (p.Ala164del) rs371633333
NM_024496.4(IRF2BPL):c.491_492insCGC (p.Ala164dup) rs780441372
NM_024675.4(PALB2):c.1684+18TGA[9] rs368593832
NM_025000.4(DCAF17):c.322-15dup rs139655160
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr) rs78870822
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025137.4(SPG11):c.6477+13del rs574960359
NM_025216.3(WNT10A):c.831G>C (p.Trp277Cys) rs1234227647
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del) rs371983878
NM_030773.4(TUBB1):c.534T>G (p.Thr178=) rs163777
NM_030787.4(CFHR5):c.485_486dup (p.Glu163fs) rs565457964
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp) rs1057520538
NM_032119.4(ADGRV1):c.5953A>G (p.Asn1985Asp) rs41303352
NM_032427.4(MAML2):c.1782GCA[12] (p.Gln621del) rs60727839
NM_032578.4(MYPN):c.3075+5_3075+13del rs864622652
NM_032801.5(JAM3):c.410-14_410-13insCT rs3216140
NM_033028.5(BBS4):c.1482C>A (p.Pro494=) rs2151058298
NM_033305.3(VPS13A):c.385+6_385+15del rs72275336
NM_033305.3(VPS13A):c.9189+2545TGA[10] rs113052866
NM_033305.3(VPS13A):c.9189+2545TGA[6] rs113052866
NM_052813.5(CARD9):c.1434+1G>C rs141992399
NM_058216.3(RAD51C):c.561_562del (p.His187fs) rs1057517812
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs) rs587784527
NM_133378.4(TTN):c.26780-19dup rs397517532
NM_133379.5(TTN):c.15313C>A (p.Arg5105=) rs376396183
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_138638.5(CFL2):c.312-7del rs35515423
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup) rs398124508
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del) rs764505909
NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del) rs397517848
NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del) rs531550505
NM_144687.4(NLRP12):c.2927+4_2927+5dup rs763190690
NM_144969.3(ZDHHC15):c.380-5del rs751518520
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
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.2267G>A (p.Arg756His) rs606231435
NM_152468.5(TMC8):c.*5T>G rs369764
NM_152468.5(TMC8):c.988-4G>A rs62079073
NM_152558.5(IQCE):c.895_904del (p.Val301fs) rs773701437
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_170606.3(KMT2C):c.8390dup (p.Glu2798fs) rs747256476
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_170707.4(LMNA):c.621GAA[1] (p.Lys208del) rs267607540
NM_172107.4(KCNQ2):c.1503C>G (p.Ala501=) rs1801545
NM_172362.3(KCNH1):c.80-19dup rs56223346
NM_174934.4(SCN4B):c.632C>G (p.Thr211Arg) rs201454653
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu) rs778849441
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val) rs11583680
NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup) rs35574083
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly) rs4240659
NM_181332.3(NLGN4X):c.301C>T (p.Arg101Ter) rs756651509
NM_182895.5(SCARF2):c.2240dup (p.Gly749fs) rs5844420
NM_182895.5(SCARF2):c.2292dup (p.Glu765fs) rs5844418
NM_182916.3(TRNT1):c.810_811insAAACTT (p.Pro270_Ala271insLysLeu) rs527331900
NM_182961.4(SYNE1):c.16896+11dup rs545568394
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys) rs145899734
NM_182978.4(GNAL):c.266_283dup (p.Ala89_Ala94dup) rs750891634
NM_183357.3(ADCY5):c.2176G>A (p.Ala726Thr) rs796065306
NM_198428.3(BBS9):c.1468del (p.Tyr490fs) rs1454474832
NM_201384.3(PLEC):c.13479G>A (p.Ser4493=) rs781929758
NM_201384.3(PLEC):c.378T>G (p.Ala126=) rs6993938
NM_213599.3(ANO5):c.2236-10del rs72105710
NM_213599.3(ANO5):c.295-8dup rs778435515
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe) rs7481951

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