ClinVar Miner

Variants from Eurofins Ntd Llc (ga) with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Eurofins Ntd Llc (ga): Collection method of the submission from Eurofins Ntd Llc (ga):
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

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

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
14025 12521 85 7439 10637 183 1086 18459

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
Eurofins Ntd Llc (ga) pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response established risk allele likely risk allele pathogenic, low penetrance protective risk factor other
pathogenic 0 660 116 10 8 0 0 14 0 1 3 2 8 23
likely pathogenic 261 0 96 7 6 0 0 5 0 0 0 1 1 5
uncertain significance 382 598 12 9117 2276 0 1 6 0 0 0 1 1 8
likely benign 7 21 582 11 1986 0 1 1 0 0 0 1 1 2
benign 20 22 445 4535 62 3 5 7 1 0 0 5 18 3
other 22 10 21 42 35 0 0 21 0 0 0 1 2 0

Submitter to submitter summary #

Total submitters: 197
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 11691 0 2093 4453 58 440 7041
PreventionGenetics, part of Exact Sciences 0 7018 0 1247 3622 30 152 5051
Labcorp Genetics (formerly Invitae), Labcorp 0 5003 0 868 3279 17 248 4409
CeGaT Center for Human Genetics Tuebingen 0 3788 0 1425 2255 27 157 3861
Breakthrough Genomics, Breakthrough Genomics 0 4286 0 1804 19 16 1 1837
Ambry Genetics 0 2012 0 302 1459 5 40 1804
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2452 0 687 956 15 67 1725
Genetic Services Laboratory, University of Chicago 0 1831 0 1168 520 4 13 1705
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 2023 0 779 726 6 19 1530
Athena Diagnostics 0 2820 0 606 754 1 30 1388
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2594 0 431 749 8 30 1216
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 585 0 786 208 2 5 1001
Clinical Genetics, Academic Medical Center 0 1797 0 469 462 7 12 950
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1174 0 499 397 9 15 920
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2155 0 350 377 10 41 778
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1958 0 329 291 7 28 655
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1238 0 344 231 6 12 593
Illumina Laboratory Services, Illumina 0 726 0 295 208 1 17 516
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 554 0 347 69 7 12 435
Mayo Clinic Laboratories, Mayo Clinic 0 2106 0 161 185 15 59 417
Revvity Omics, Revvity 0 3378 0 133 137 3 92 365
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 279 82 69 111 0 1 263
Quest Diagnostics Nichols Institute San Juan Capistrano 0 495 0 106 129 3 24 259
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 517 0 120 74 1 9 204
Department of Pathology and Laboratory Medicine, Sinai Health System 0 272 0 42 89 10 18 157
OMIM 0 99 0 7 5 95 31 136
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 302 0 73 45 3 5 126
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 143 0 35 45 0 8 88
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 12 0 6 6 0 73 85
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 158 0 48 25 0 0 73
Fulgent Genetics, Fulgent Genetics 0 202 0 46 10 2 4 62
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 71 0 25 29 4 1 59
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 142 0 31 23 0 1 55
AiLife Diagnostics, AiLife Diagnostics 0 114 0 30 2 5 14 51
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 203 0 26 0 4 20 50
Mendelics 0 42 0 8 33 1 5 47
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 170 0 37 9 0 0 46
Clinical Genetics Laboratory, Skane University Hospital Lund 0 216 0 26 1 3 15 45
All of Us Research Program, National Institutes of Health 0 58 0 7 33 0 5 45
Natera, Inc. 0 186 0 13 24 0 5 42
Clinical Genetics and Genomics, Karolinska University Hospital 0 89 0 26 1 0 8 35
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 71 0 18 11 1 6 34
Baylor Genetics 0 63 0 12 0 1 22 33
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 3 26 4 0 0 33
Blueprint Genetics 0 79 0 13 6 0 13 32
PharmGKB 0 0 0 0 0 29 0 29
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 62 0 7 19 1 1 28
Color Diagnostics, LLC DBA Color Health 0 74 0 6 19 0 1 26
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 60 0 8 15 0 3 26
CFTR-France 0 5 0 2 0 0 20 22
Institute of Human Genetics, University Hospital Muenster 0 48 0 10 3 2 5 20
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 30 0 8 3 0 8 19
CSER _CC_NCGL, University of Washington 0 15 0 4 12 0 2 18
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 94 0 6 4 3 4 17
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 20 0 11 5 0 0 16
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 11 0 6 1 2 8 15
Kariminejad - Najmabadi Pathology & Genetics Center 0 49 0 11 0 0 3 14
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 16 0 3 9 0 2 14
NIHR Bioresource Rare Diseases, University of Cambridge 0 6 0 7 0 1 7 13
Gharavi Laboratory, Columbia University 0 17 0 4 3 0 6 13
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 31 0 3 6 0 2 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 29 0 5 2 0 3 10
Institute of Human Genetics, University of Leipzig Medical Center 0 5 0 4 1 1 4 10
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 0 46 0 10 0 0 0 10
Leiden Open Variation Database 0 12 0 5 3 0 2 10
Medical Genetics Summaries 0 0 0 0 0 10 0 10
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 17 0 2 5 0 2 9
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 43 0 5 1 2 4 9
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 2 1 1 7 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 13 0 2 5 1 0 8
RettBASE 0 42 0 4 3 0 0 7
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 10 0 2 2 0 2 6
Center for Genetic Medicine Research, Children's National Medical Center 0 5 0 0 4 0 2 6
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 6 0 4 2 1 1 6
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 5 0 3 0 1 4 6
Bruce Budowle Laboratory, University of North Texas Health Science Center 0 0 0 0 0 6 0 6
Institute of Reproductive Genetics, University of Münster 0 7 0 2 1 0 3 6
Faculty of Health Sciences, Beirut Arab University 0 2 0 0 0 0 6 6
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 19 0 0 4 0 1 5
Diagnostic Laboratory, Strasbourg University Hospital 0 2 0 2 1 0 2 5
Clinical Pharmacogenetics Implementation Consortium 0 0 0 0 0 5 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 2 1 3 2 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 5 0 1 4 1 1 5
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 0 0 0 3 1 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 26 0 1 1 0 2 4
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 1 2 0 1 4
National Institute on Deafness and Communication Disorders, National Institutes of Health 0 3 0 0 3 0 1 4
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 0 10 0 3 1 0 0 4
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 1 2 1 0 4
Molecular Genetics, Royal Melbourne Hospital 0 5 0 2 2 0 0 4
Claritas Genomics 0 18 0 2 1 0 0 3
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 18 0 2 0 0 1 3
Elsea Laboratory, Baylor College of Medicine 0 0 0 1 0 1 3 3
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 1 0 1 3 3
Albrecht-Kossel-Institute, Medical University Rostock 0 0 0 0 0 3 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 12 0 1 0 0 2 3
Daryl Scott Lab, Baylor College of Medicine 0 23 0 3 0 1 1 3
Johns Hopkins Genomics, Johns Hopkins University 0 4 0 0 3 0 0 3
Genome-Nilou Lab 0 26 0 3 0 0 0 3
DASA 0 17 0 0 0 0 3 3
Laan Lab, Human Genetics Research Group, University of Tartu 0 3 0 1 0 0 2 3
Genomics England Pilot Project, Genomics England 0 0 0 3 0 0 0 3
Faculty of Pharmacy, Damascus University 0 0 0 0 0 3 0 3
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 0 0 0 1 0 0 2 3
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 0 5 0 1 0 0 2 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 7 0 0 0 0 2 2
GenMed Metabolism Lab 0 7 0 0 0 0 2 2
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 1 0 0 1 1 0 2
Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 0 0 0 0 1 0 1 2
Clinical Genetics, Erasmus University Medical Center 0 0 0 0 2 0 0 2
Neurogenetics Laboratory - MEYER, AOU Meyer 0 0 0 2 0 1 1 2
Undiagnosed Diseases Network, NIH 0 4 0 1 1 1 2 2
Yale Center for Mendelian Genomics, Yale University 0 4 0 2 0 0 0 2
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 0 1 0 0 1 0 1 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 2 0 1 0 1 2 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 6 0 1 0 0 1 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 10 0 2 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 2 0 0 1 1 0 2
Institute of Human Genetics, Heidelberg University 0 0 0 1 0 0 1 2
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 4 0 0 2 0 0 2
Department of Neurology, Guangzhou First People’s Hospital, School of Medicine, South China University of Technology 0 1 0 0 0 0 2 2
New York Genome Center 0 7 0 2 1 1 1 2
Paris Brain Institute, Inserm - ICM 0 0 0 0 1 0 1 2
NHS Central & South Genomic Laboratory Hub 0 9 0 1 1 0 0 2
King Laboratory, University of Washington 0 0 0 0 1 0 0 1
MGZ Medical Genetics Center 0 3 0 0 0 0 1 1
Centogene AG - the Rare Disease Company 0 3 0 1 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 0 0 0 1 1
Eurofins Ntd Llc (ga) 45004 0 0 1 1 1 1 1
UniProtKB/Swiss-Prot 0 20 0 1 0 0 0 1
Eye Genetics Research Group, Children's Medical Research Institute 0 1 0 0 1 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 2 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 0 0 0 0 0 1 1
Human Genetics School of Medicine of Albacete, Castilla-La Mancha University 0 0 0 0 0 0 1 1
Department of Prosthodontics, Peking University School and Hospital of Stomatology 0 0 0 0 0 0 1 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 0 0 0 0 1 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 0 0 1 1 1 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Foundation Medicine, Inc. 0 0 0 0 1 0 0 1
GeneKor MSA 0 35 0 1 0 0 0 1
Cytogenetics- Mohapatra Lab, Banaras Hindu University 0 0 0 0 0 0 1 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 10 0 1 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 0 0 1 0 1 1 1
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 0 0 0 0 0 0 1 1
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 0 0 0 1 0 0 0 1
Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 1 0 1 1 1
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 1 0 0 1
Endocrine oncology group, Uppsala University 0 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 0 1 1 1 1 1
Department of Pathology and Molecular Medicine, Queen's University 0 9 0 0 1 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 11 0 0 0 0 1 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 0 1 1 1 1 1
Institute of Cellular and Molecular Medicine, Copenhagen University 0 0 0 1 0 1 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 7 0 1 0 0 0 1
Flegel Lab, National Institutes of Health 0 0 0 1 0 1 1 1
Genetics Department, University Hospital of Toulouse 0 0 0 1 0 1 1 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 1 0 1 0 0 0 1
Molecular Medicine, University of Leeds 0 1 0 0 0 0 1 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 0 0 0 0 0 1 1
Inherited Neuropathy Consortium 0 1 0 0 0 0 1 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 0 0 0 0 0 0 1 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 0 1 1 1 1 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 0 0 1 1 1 1 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 3 0 1 0 0 0 1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics 0 0 0 1 0 1 1 1
Codex Genetics Limited 0 0 0 0 0 0 1 1
Klaassen Lab, Charite University Medicine Berlin 0 0 0 0 0 0 1 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 0 1 0 1 1 1
deCODE genetics, Amgen 0 0 0 1 0 0 0 1
Bioinformatics Institute, Agency for Science, Technology and Research 0 0 0 0 0 1 0 1
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 1 0 0 0 0 1 1
Division of Medical Genetics, University of Washington 0 0 0 1 0 0 0 1
Rare Disease Group, University of Exeter 0 0 0 1 0 1 1 1
Central Laboratory, The First Hospital of Lanzhou University 0 0 0 1 0 1 1 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 0 0 1 0 1 1 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 3 0 1 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 0 0 0 0 1 1
Genomic Medicine, Universita Cattolica del Sacro Cuore 0 0 0 1 0 1 1 1
Department of Vascular Biology, Beijing Anzhen Hospital 0 0 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 5 0 1 0 0 0 1
Service de Biologie Medicale, CIUSSS du Saguenay-Lac-Saint-Jean 0 0 0 0 0 0 1 1
Ulrich Schweizer laboratory, Universitaetsklinikum Bonn 0 0 0 0 0 0 1 1
Imperial College London Diabetes Centre, Mubadala Healthcare 0 0 0 0 0 0 1 1
IU Genetic Testing Laboratories, Indiana University School of Medicine 0 0 0 1 0 1 1 1
Cytogenetics, Genetics Associates, Inc. 0 0 0 1 0 1 1 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 0 0 0 0 1 1
Biology Molecular and Stem Cell Facilities Laboratory, National Cardiovascular Center, Harapan Kita Hospital 0 0 0 0 0 0 1 1
Chao Lab, Baylor College of Medicine, Texas Children's Hospital 0 0 0 1 0 1 1 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 0 0 1 0 0 0 1
Solve-RD Consortium 0 0 0 0 1 1 1 1
Faculty of Pharmacy, University of Ljubljana 0 0 0 0 0 0 1 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 0 1 0 0 1
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 4 0 1 0 0 0 1
Department of Pharmacology - Sarajevo Medical School, University Sarajevo School of Science and Technology 0 0 0 0 0 1 0 1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 0 0 0 1 0 1 1 1

All variants with conflicting interpretations #

Total variants: 18459
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001042413.2(GLIS3):c.1270T>C (p.Ser424Pro) rs806052 0.99890
NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser) rs1063242 0.99690
NM_031407.7(HUWE1):c.12177T>C (p.Gly4059=) rs426298 0.99420
NM_001363.5(DKC1):c.369G>T (p.Thr123=) rs2728532 0.99384
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly) rs2515569 0.99154
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val) rs2147377 0.99149
NM_005045.4(RELN):c.8843+7G>C rs2711885 0.98938
NM_004977.3(KCNC3):c.188A>G (p.Asp63Gly) rs375912738 0.98789
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=) rs27673 0.98545
NM_006790.3(MYOT):c.220= (p.Gln74=) rs6890689 0.98540
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598 0.98511
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=) rs1432794 0.97933
NM_032119.4(ADGRV1):c.16279G>A (p.Val5427Met) rs2438378 0.97114
NM_006214.4(PHYH):c.153C>T (p.Asn51=) rs1747682 0.96869
NM_002025.4(AFF2):c.3404+7A>G rs5980615 0.95464
NM_015386.3(COG4):c.485C>T (p.Thr162Ile) rs3931036 0.95397
NM_032119.4(ADGRV1):c.16031A>G (p.Glu5344Gly) rs2438374 0.93517
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_031433.4(MFRP):c.540T>C (p.His180=) rs2510143 0.91859
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln) rs1801726 0.91749
NM_001123385.2(BCOR):c.1260T>C (p.Asp420=) rs5917933 0.91469
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala) rs8037349 0.90740
NM_005751.5(AKAP9):c.3075C>T (p.Thr1025=) rs1989779 0.90157
NM_002739.5(PRKCG):c.72C>T (p.Ala24=) rs2547362 0.89099
NM_001184.4(ATR):c.7875G>A (p.Gln2625=) rs1802904 0.88595
NM_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776 0.88431
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431 0.87890
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502 0.87885
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) rs2229960 0.86626
NM_001849.4(COL6A2):c.1671+10A>G rs915786 0.86241
NM_198525.3(KIF7):c.2658A>C (p.Ala886=) rs3803531 0.85312
NM_022455.5(NSD1):c.6829T>C (p.Leu2277=) rs28580074 0.84910
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552 0.82099
NM_003282.4(TNNI2):c.60T>C (p.Ser20=) rs907610 0.82025
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829 0.81114
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr) rs6911096 0.80856
NM_000744.7(CHRNA4):c.678T>C (p.Cys226=) rs1044394 0.80763
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg) rs9479297 0.80638
NM_000335.5(SCN5A):c.87A>G (p.Ala29=) rs6599230 0.80621
NM_004360.5(CDH1):c.48+6C>T rs3743674 0.80384
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=) rs1412640 0.80210
NM_020975.6(RET):c.2307G>T (p.Leu769=) rs1800861 0.79547
NM_020975.6(RET):c.135A>G (p.Ala45=) rs1800858 0.79274
NM_000744.7(CHRNA4):c.639T>C (p.Asp213=) rs1044393 0.78554
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu) rs390659 0.78498
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly) rs434102 0.77412
NM_018136.5(ASPM):c.10331+8A>G rs10754213 0.77181
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys) rs2366928 0.76700
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_032119.4(ADGRV1):c.2367+8C>T rs2366773 0.76285
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe) rs4630153 0.75355
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) rs4766309 0.75219
NM_018136.5(ASPM):c.441+14C>T rs1571964 0.74895
NM_018136.5(ASPM):c.849C>T (p.Ser283=) rs6677082 0.74886
NM_001385875.1(ZFYVE27):c.413G>T (p.Gly138Val) rs10882993 0.74523
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe) rs2366777 0.74245
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860 0.73885
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771 0.73872
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile) rs4916684 0.73682
NM_173630.4(RTTN):c.376T>G (p.Ser126Ala) rs3911730 0.73528
NM_138694.4(PKHD1):c.8798-19A>C rs1326605 0.73187
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) rs12623957 0.72397
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000240.4(MAOA):c.891G>T (p.Arg297=) rs6323 0.71997
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300 0.71989
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110 0.71935
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690 0.71839
NM_000152.5(GAA):c.1327-18A>G rs2278619 0.71811
NM_004560.4(ROR2):c.2455G>A (p.Val819Ile) rs10761129 0.71630
NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg) rs13045 0.71334
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596 0.71202
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860 0.70508
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) rs1046316 0.70506
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355 0.69367
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208 0.69255
NM_006013.5(RPL10):c.605= (p.Ser202=) rs4909 0.69154
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_006005.3(WFS1):c.684C>G (p.Arg228=) rs1801213 0.68223
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_001164508.2(NEB):c.771T>C (p.Ala257=) rs4611637 0.68008
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=) rs11080572 0.67857
NM_173495.3(PTCHD1):c.858T>C (p.Cys286=) rs5926304 0.67668
NM_006031.6(PCNT):c.7914-16C>T rs2839257 0.67468
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_006031.6(PCNT):c.720+17T>C rs9982233 0.67221
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=) rs4674 0.66668
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=) rs284652 0.66509
NM_004560.4(ROR2):c.733A>G (p.Thr245Ala) rs10820900 0.66416
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr) rs2288210 0.66332
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met) rs7426114 0.66326
NM_201384.3(PLEC):c.2457+6C>T rs11780911 0.66214
NM_000108.5(DLD):c.439-7T>C rs10263341 0.66181
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482 0.66162
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393 0.65667
NM_000152.5(GAA):c.547-4C>G rs3816256 0.65665
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_000152.5(GAA):c.955+12G>A rs2252455 0.65487
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304 0.65453
NM_000240.4(MAOA):c.1410T>C (p.Asp470=) rs1137070 0.65298
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65135
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro) rs7575451 0.64120
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069 0.64010
NM_006005.3(WFS1):c.1500C>T (p.Asn500=) rs1801214 0.63787
NM_001184.4(ATR):c.1776T>A (p.Gly592=) rs2227930 0.63717
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482 0.63686
NM_001184.4(ATR):c.632T>C (p.Met211Thr) rs2227928 0.63625
NM_000709.4(BCKDHA):c.995+49G>A rs284654 0.63462
NM_006005.3(WFS1):c.461-9A>G rs10010131 0.63169
NM_001348946.2(ABCB1):c.1236T>C (p.Gly412=) rs1128503 0.63165
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu) rs6818847 0.62431
NM_001042413.2(GLIS3):c.1367C>A (p.Pro456Gln) rs6415788 0.62075
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe) rs780668 0.61569
NM_014271.4(IL1RAPL1):c.-19G>A rs6526806 0.61514
NM_000540.3(RYR1):c.594A>G (p.Leu198=) rs2229139 0.60966
NM_014336.5(AIPL1):c.300A>G (p.Leu100=) rs8075035 0.60839
NM_000231.3(SGCG):c.705T>C (p.Leu235=) rs1800353 0.60006
NM_000322.5(PRPH2):c.318T>C (p.Val106=) rs7764439 0.59853
NM_001875.5(CPS1):c.1032C>T (p.Thr344=) rs2229589 0.59558
NM_000742.4(CHRNA2):c.373A>G (p.Thr125Ala) rs891398 0.58886
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_030665.4(RAI1):c.1992G>A (p.Pro664=) rs8067439 0.58185
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) rs1046314 0.57941
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397 0.57872
NM_001032382.2(PQBP1):c.180-3C>T rs741932 0.57792
NM_000106.6(CYP2D6):c.1457G>C (p.Ser486Thr) rs1135840 0.57695
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691 0.57506
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249 0.57256
NM_006059.4(LAMC3):c.219T>G (p.His73Gln) rs3739512 0.56936
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) rs213950 0.56732
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) rs6747673 0.56670
NM_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206 0.56648
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774 0.56484
NM_018055.5(NODAL):c.494A>G (p.His165Arg) rs1904589 0.56006
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=) rs4664475 0.55659
NM_201384.3(PLEC):c.11886A>G (p.Thr3962=) rs6558406 0.55590
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472 0.54674
NM_201384.3(PLEC):c.12813A>G (p.Ser4271=) rs6558405 0.54173
NM_201384.3(PLEC):c.13461T>C (p.Ala4487=) rs7014582 0.54076
NM_201384.3(PLEC):c.11628A>G (p.Pro3876=) rs7822511 0.53938
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=) rs9672286 0.53592
NM_201384.3(PLEC):c.7960T>C (p.Ser2654Pro) rs7833924 0.53335
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598 0.52665
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg) rs12900805 0.52523
NM_032119.4(ADGRV1):c.11682C>T (p.Pro3894=) rs2438349 0.52519
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile) rs3803530 0.52464
NM_014336.5(AIPL1):c.277-10A>C rs12453262 0.52383
NM_001953.5(TYMP):c.972C>T (p.Ala324=) rs131804 0.51130
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601 0.50550
NM_201384.3(PLEC):c.11127T>C (p.Ala3709=) rs7819099 0.50384
NM_182961.4(SYNE1):c.1047+4T>A rs9397106 0.50379
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052 0.50252
NM_005045.4(RELN):c.8046T>C (p.His2682=) rs2229864 0.49951
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
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_005045.4(RELN):c.578-3T>C rs607755 0.49658
NM_000489.6(ATRX):c.2785= (p.Glu929=) rs3088074 0.49116
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=) rs1432793 0.48793
NM_000104.4(CYP1B1):c.1294= (p.Leu432=) rs1056836 0.48746
NM_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.48544
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099 0.48281
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_001386140.1(MTTP):c.453T>C (p.Gly151=) rs991811 0.47516
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro) rs6493068 0.47359
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030 0.47208
NM_001297.5(CNGB1):c.1122-15C>T rs2303778 0.46316
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138 0.46276
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro) rs11120047 0.45814
NM_006009.4(TUBA1A):c.288A>G (p.Lys96=) rs1056875 0.45696
NM_024596.5(MCPH1):c.2215-19A>G rs2936531 0.45478
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=) rs3747562 0.45408
NM_001244008.2(KIF1A):c.991T>C (p.Leu331=) rs1063353 0.45235
NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=) rs10966 0.45223
NM_004525.3(LRP2):c.10503G>A (p.Gln3501=) rs2229265 0.45093
NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile) rs2247870 0.45079
NM_000492.4(CFTR):c.2562T>G (p.Thr854=) rs1042077 0.44737
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44536
NM_001202.6(BMP4):c.455T>C (p.Val152Ala) rs17563 0.44424
NM_000335.5(SCN5A):c.5454T>C (p.Asp1818=) rs1805126 0.44288
NM_030665.4(RAI1):c.269G>C (p.Gly90Ala) rs3803763 0.43727
NM_030803.7(ATG16L1):c.898A>G (p.Thr300Ala) rs2241880 0.43552
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser) rs2496425 0.43515
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) rs1131824 0.43499
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312 0.43085
NM_030665.4(RAI1):c.5601T>C (p.Ile1867=) rs3818717 0.42485
NM_001177316.2(SLC34A3):c.757T>C (p.Leu253=) rs28407527 0.42407
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) rs3027875 0.42119
NM_005751.5(AKAP9):c.8665C>T (p.Leu2889=) rs10228334 0.42044
NM_005751.5(AKAP9):c.3504A>G (p.Glu1168=) rs13245393 0.42036
NM_014324.6(AMACR):c.25G>A (p.Val9Met) rs3195676 0.42007
NM_000834.5(GRIN2B):c.366C>G (p.Pro122=) rs7301328 0.41972
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244 0.41941
NM_000249.4(MLH1):c.1668-19A>G rs9876116 0.41821
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
NM_000243.3(MEFV):c.1764G>A (p.Pro588=) rs1231122 0.41230
NM_004260.4(RECQL4):c.3236+13C>T rs4244610 0.41215
NM_005751.5(AKAP9):c.6945+8C>T rs733957 0.40759
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val) rs1061305 0.40617
NM_000287.4(PEX6):c.399G>T (p.Val133=) rs9462858 0.40569
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=) rs1044397 0.40553
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=) rs1044396 0.40465
NM_000203.5(IDUA):c.60G>A (p.Ala20=) rs10902762 0.39819
NM_133642.5(LARGE1):c.435C>T (p.Ala145=) rs86487 0.39804
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859 0.39734
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162 0.39681
NM_006950.3(SYN1):c.510T>C (p.Asn170=) rs1142636 0.39391
NM_002294.3(LAMP2):c.156A>T (p.Val52=) rs12097 0.39324
NM_004820.5(CYP7B1):c.122+19A>T rs7842714 0.39118
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583 0.38953
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp) rs10941112 0.38660
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) rs13402180 0.38348
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) rs13414203 0.38341
NM_000540.3(RYR1):c.7835+5A>G rs1469695 0.38217
NM_015386.3(COG4):c.646C>T (p.Leu216=) rs3762171 0.38086
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=) rs11675767 0.38033
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) rs730106 0.37791
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) rs1051152 0.37778
NM_000709.4(BCKDHA):c.995+26C>T rs284653 0.37723
NM_000795.4(DRD2):c.957C>T (p.Pro319=) rs6277 0.37659
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321 0.37107
NM_000057.4(BLM):c.2555+7T>C rs3815003 0.37072
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala) rs2252755 0.36980
NM_000352.6(ABCC8):c.2117-3C>T rs1799854 0.36733
G6PD:c.1455-13T>C rs2071429 0.36538
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320 0.36505
NM_000104.4(CYP1B1):c.142C>G (p.Arg48Gly) rs10012 0.36324
NM_024809.5(TCTN2):c.1393+7C>T rs7298440 0.36136
NM_000410.4(HFE):c.340+4T>C rs2071303 0.35994
NM_033337.3(CAV3):c.99C>T (p.Asn33=) rs1008642 0.35756
NM_030665.4(RAI1):c.493C>A (p.Pro165Thr) rs11649804 0.35747
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val) rs3829746 0.35516
NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr) rs2760118 0.35507
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377 0.35383
NM_000104.4(CYP1B1):c.355G>T (p.Ala119Ser) rs1056827 0.35167
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln) rs4710457 0.35152
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996 0.34979
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209 0.34676
NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys) rs4148211 0.34608
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330 0.34583
NM_002778.4(PSAP):c.1351-14A>G rs4747203 0.34512
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757 0.34419
NM_001123385.2(BCOR):c.1692A>G (p.Ala564=) rs6520618 0.34271
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951 0.33482
NM_001134407.3(GRIN2A):c.2085G>C (p.Arg695=) rs9806806 0.33435
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=) rs2229144 0.33092
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=) rs2960340 0.33086
NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr) rs2293869 0.33006
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
NM_003907.3(EIF2B5):c.1759A>G (p.Ile587Val) rs843358 0.32719
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=) rs1053315 0.32659
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys) rs197922 0.32616
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146 0.32548
NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu) rs4916685 0.32486
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=) rs2071089 0.32394
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) rs1044498 0.32168
NM_000540.3(RYR1):c.8693-10G>C rs2915958 0.32159
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952 0.32150
NM_022095.4(ZNF335):c.642C>T (p.Ser214=) rs3848719 0.32130
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=) rs3747563 0.32044
NM_198904.4(GABRG2):c.588C>T (p.Asn196=) rs211037 0.31659
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31596
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31585
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774 0.31358
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala) rs6647 0.31278
NM_000231.3(SGCG):c.*254G>A rs3751371 0.31172
NM_024006.4(VKORC1):c.-1639G>A rs9923231 0.31157
NM_006765.4(TUSC3):c.309-6T>C rs1035972 0.31124
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683 0.30966
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486 0.30800
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_001492.6(GDF1):c.353C>T (p.Ala118Val) rs4808863 0.30267
NM_201384.3(PLEC):c.4413T>C (p.Ala1471=) rs35916068 0.30160
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=) rs16869042 0.30112
NM_201384.3(PLEC):c.5907T>C (p.Ala1969=) rs2857829 0.29968
NM_201384.3(PLEC):c.4045-4A>G rs7002152 0.29962
NM_201384.3(PLEC):c.8495G>A (p.Arg2832His) rs6558407 0.29956
NM_201384.3(PLEC):c.3757-6A>G rs11136333 0.29944
NM_201384.3(PLEC):c.6441G>A (p.Ala2147=) rs7016416 0.29943
NM_201384.3(PLEC):c.3550T>C (p.Leu1184=) rs3135109 0.29936
NM_201384.3(PLEC):c.3746G>A (p.Arg1249Gln) rs11136334 0.29922
NM_201384.3(PLEC):c.4680G>A (p.Ala1560=) rs55836855 0.29922
NM_020822.3(KCNT1):c.1749G>A (p.Ala583=) rs17038714 0.29915
NM_201384.3(PLEC):c.7581A>C (p.Ala2527=) rs11778026 0.29910
NM_201384.3(PLEC):c.6170C>T (p.Ala2057Val) rs7002002 0.29901
NM_201384.3(PLEC):c.8253C>T (p.Asn2751=) rs11777402 0.29844
NM_001164508.2(NEB):c.6807+6T>G rs10930723 0.29833
NM_001291867.2(NHS):c.4018T>C (p.Phe1340Leu) rs3747295 0.29823
NM_201384.3(PLEC):c.4455T>G (p.Ala1485=) rs56117011 0.29823
NM_201384.3(PLEC):c.5928G>A (p.Ala1976=) rs1140522 0.29794
NM_201384.3(PLEC):c.10665G>A (p.Thr3555=) rs6984820 0.29792
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=) rs2252748 0.29787
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081 0.29390
NM_020717.5(SHROOM4):c.3468A>G (p.Glu1156=) rs3747282 0.29345
NM_020365.5(EIF2B3):c.243C>T (p.Asp81=) rs11556200 0.29252
NM_201384.3(PLEC):c.1095T>C (p.Asp365=) rs11783799 0.29245
NM_201384.3(PLEC):c.4476G>A (p.Ala1492=) rs55646585 0.29155
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) rs2627043 0.29094
NM_006214.4(PHYH):c.636A>G (p.Thr212=) rs473407 0.28866
NM_003839.4(TNFRSF11A):c.-9T>C rs1805033 0.28610
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565 0.28594
NM_006059.4(LAMC3):c.1564C>T (p.Pro522Ser) rs869457 0.28273
NM_003611.3(OFD1):c.1129+16A>G rs3815049 0.28069
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806 0.27837
NM_032119.4(ADGRV1):c.11599G>A (p.Glu3867Lys) rs10062026 0.27574
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr) rs1043424 0.27338
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) rs3219489 0.26720
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321 0.26575
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) rs7551175 0.26545
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023 0.26237
NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196 0.26206
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831 0.25928
NM_020361.5(CPA6):c.133T>C (p.Phe45Leu) rs10957393 0.25907
NM_000552.5(VWF):c.2880G>A (p.Arg960=) rs1800380 0.25897
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_178510.2(ANKK1):c.2137G>A (p.Glu713Lys) rs1800497 0.25693
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln) rs3748361 0.25511
NM_198525.3(KIF7):c.3517+6C>T rs74251725 0.25419
NM_000235.4(LIPA):c.46A>C (p.Thr16Pro) rs1051338 0.25399
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=) rs2288211 0.24726
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_031433.4(MFRP):c.406G>A (p.Val136Met) rs3814762 0.24523
NM_000533.5(PLP1):c.609T>C (p.Asp203=) rs1126707 0.24238
NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=) rs17720698 0.24032
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met) rs3731746 0.24029
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe) rs16868972 0.23938
NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) rs6234 0.23916
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838 0.23912
NM_033337.3(CAV3):c.123T>C (p.Phe41=) rs13087941 0.23875
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_024757.5(EHMT1):c.444T>C (p.Pro148=) rs3812497 0.23632
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530 0.23571
NM_031433.4(MFRP):c.492C>T (p.Tyr164=) rs36015759 0.23503
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136 0.23407
NM_001277115.2(DNAH11):c.5621+11A>T rs59447021 0.23311
NM_000540.3(RYR1):c.7614+10C>G rs2960323 0.23284
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=) rs2070825 0.22980
NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr) rs6235 0.22796
NM_000133.4(F9):c.580A>G (p.Thr194Ala) rs6048 0.22614
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) rs1346044 0.22492
NM_005120.3(MED12):c.736-8A>C rs62609586 0.22423
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902 0.22262
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503 0.22240
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619 0.21992
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929 0.21755
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr) rs12463674 0.21485
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr) rs446227 0.21425
NM_000404.4(GLB1):c.1233+8T>C rs13093698 0.21250
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu) rs6720173 0.21159
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) rs224222 0.20976
NM_006514.4(SCN10A):c.2884A>G (p.Ile962Val) rs57326399 0.20797
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_001100.4(ACTA1):c.130-10G>C rs41271481 0.20670
NM_020975.6(RET):c.337+9G>A rs2435351 0.20641
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813 0.20632
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn) rs8179065 0.20556
NM_000769.1(CYP2C19):c.-806C>T rs12248560 0.20441
NM_005422.4(TECTA):c.2795T>C (p.Val932Ala) rs520805 0.20376
NM_014141.6(CNTNAP2):c.1777+10A>G rs2286127 0.20355
NM_000350.3(ABCA4):c.5836-11G>A rs1800739 0.20309
NM_025009.5(CEP135):c.2305A>C (p.Ile769Leu) rs3214045 0.20167
NM_005199.5(CHRNG):c.507-13C>T rs2853462 0.20012
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_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209 0.19521
NM_001130987.2(DYSF):c.6321+15C>T rs2559082 0.19470
NM_000027.4(AGA):c.281+13T>G rs34241758 0.19395
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) rs2071133 0.19260
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526 0.19072
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529 0.18890
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_000110.4(DPYD):c.1627A>G (p.Ile543Val) rs1801159 0.18679
CYP2D6*10 rs1065852 0.18675
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179 0.18595
NM_170784.3(MKKS):c.117C>T (p.Pro39=) rs16991547 0.18435
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125 0.18359
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_170707.4(LMNA):c.1157+16G>A rs534807 0.18318
NM_014141.6(CNTNAP2):c.3248-4A>G rs3779031 0.18203
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_000240.4(MAOA):c.385A>C (p.Arg129=) rs1800464 0.17743
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His) rs72646967 0.17704
NM_024079.5(ALG8):c.665A>G (p.Asn222Ser) rs665278 0.17617
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528 0.17598
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933 0.17570
NM_000742.4(CHRNA2):c.351C>T (p.Asp117=) rs2565061 0.17492
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=) rs33988153 0.17490
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=) rs34592169 0.17471
NM_001330078.2(NRXN1):c.511C>T (p.Leu171=) rs1045874 0.17452
NM_005045.4(RELN):c.10074A>G (p.Ala3358=) rs1062831 0.17444
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr) rs3810950 0.17408
NM_017866.6(TMEM70):c.100G>C (p.Ala34Pro) rs8075 0.17369
NM_001123385.2(BCOR):c.4977-4G>T rs5963725 0.16998
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile) rs73066479 0.16867
NM_000335.5(SCN5A):c.1141-3C>A rs41312433 0.16821
NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile) rs17720303 0.16644
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16640
NM_000742.4(CHRNA2):c.65C>T (p.Thr22Ile) rs2472553 0.16614
NM_000540.3(RYR1):c.7863C>T (p.His2621=) rs2229142 0.16420
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_000455.5(STK11):c.920+7G>C rs2075607 0.16357
NM_018136.5(ASPM):c.2174-20T>C rs4915344 0.16253
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) rs1799858 0.16150
NM_000769.4(CYP2C19):c.681G>A (p.Pro227=) rs4244285 0.16148
NM_000041.4(APOE):c.388T>C (p.Cys130Arg) rs429358 0.16059
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) rs2071134 0.15977
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15974
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.15932
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly) rs2230028 0.15795
NM_001378615.1(CC2D2A):c.124-6C>T rs1861049 0.15686
NM_080605.4(B3GALT6):c.138C>T (p.Ser46=) rs190796582 0.15534
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147 0.15526
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934 0.15517
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527 0.15412
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_000552.5(VWF):c.954T>A (p.Asn318Lys) rs1800387 0.15296
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350 0.15152
NM_001130987.2(DYSF):c.1276+11C>T rs35982795 0.15096
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser) rs28938169 0.15001
NM_024757.5(EHMT1):c.1044G>A (p.Ser348=) rs1129767 0.14787
NM_201384.3(PLEC):c.3757-9A>G rs57461687 0.14687
NM_182961.4(SYNE1):c.17745C>T (p.His5915=) rs12664753 0.14557
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) rs2234962 0.14532
NM_014208.3(DSPP):c.202A>T (p.Arg68Trp) rs36094464 0.14530
NM_001849.4(COL6A2):c.2979C>T (p.Arg993=) rs6652 0.14487
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His) rs3731749 0.14445
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128 0.14353
CYP2D6*4 rs3892097 0.14340
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14328
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val) rs1545 0.14147
NM_024757.5(EHMT1):c.3375-9A>C rs73578877 0.14146
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025 0.14118
NM_170784.3(MKKS):c.534C>T (p.Ile178=) rs17852625 0.14082
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717 0.14031
NM_139343.3(BIN1):c.957C>T (p.Ala319=) rs2276579 0.13837
NM_001130987.2(DYSF):c.888+11T>C rs13428076 0.13574
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569 0.13356
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023 0.13336
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359 0.13311
NM_000350.3(ABCA4):c.6282+7G>A rs17110761 0.13306
NM_182961.4(SYNE1):c.22671C>T (p.Ile7557=) rs3798756 0.13297
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747 0.13294
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426 0.13213
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899 0.13133
NM_181332.3(NLGN4X):c.933C>T (p.Thr311=) rs7049300 0.13090
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg) rs152451 0.12980
NM_006493.4(CLN5):c.-144C>T rs77416795 0.12832
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) rs10805890 0.12644
NM_000540.3(RYR1):c.10687-7C>T rs2960354 0.12378
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr) rs2235491 0.12316
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_054012.4(ASS1):c.501C>T (p.His167=) rs10901072 0.12154
NM_001079802.2(FKTN):c.*2280T>C rs1024366 0.12115
NM_133433.4(NIPBL):c.3575-17A>G rs78827246 0.12109
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056 0.12106
NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser) rs1800440 0.11965
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758 0.11920
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg) rs6468694 0.11916
NM_001849.4(COL6A2):c.1609-10C>T rs17357592 0.11879
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022 0.11855
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932 0.11804
NM_002335.4(LRP5):c.2220C>T (p.Asn740=) rs2306862 0.11683
NM_001277115.2(DNAH11):c.5490G>A (p.Leu1830=) rs55666134 0.11626
NM_005765.3(ATP6AP2):c.765T>C (p.Tyr255=) rs7691 0.11555
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met) rs747122 0.11550
NM_030665.4(RAI1):c.4311T>C (p.Pro1437=) rs4925112 0.11504
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748 0.11424
NM_001287.6(CLCN7):c.1252G>A (p.Val418Met) rs12926089 0.11417
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347 0.11354
NM_001164508.2(NEB):c.11077-4G>T rs878924060 0.11336
NM_020361.5(CPA6):c.746A>G (p.Asn249Ser) rs17343819 0.11318
NM_014324.6(AMACR):c.717G>T (p.Gln239His) rs34677 0.11264
NM_003859.3(DPM1):c.679-7A>T rs60224379 0.11090
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946 0.11020
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=) rs11000009 0.10990
NM_198586.3(NHLRC1):c.312T>C (p.His104=) rs115931931 0.10897
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_006416.5(SLC35A1):c.887-14T>C rs56136150 0.10768
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val) rs3736228 0.10701
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=) rs472294 0.10691
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725 0.10682
NM_014141.6(CNTNAP2):c.2256-6A>T rs10240482 0.10641
NM_001370259.2(MEN1):c.1621= (p.Thr541=) rs2959656 0.10623
NM_004369.4(COL6A3):c.6945C>T (p.Phe2315=) rs2646265 0.10608
NM_012210.4(TRIM32):c.1254G>A (p.Val418=) rs1661300 0.10569
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793 0.10553
NM_000383.4(AIRE):c.1095+6G>A rs1800525 0.10544
NM_024757.5(EHMT1):c.3000C>T (p.Pro1000=) rs35943616 0.10540
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=) rs2646258 0.10531
NM_002024.6(FMR1):c.414G>A (p.Arg138=) rs25707 0.10515
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385 0.10476
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys) rs16866538 0.10360
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968 0.10301
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=) rs2229147 0.10248
NM_006059.4(LAMC3):c.75C>T (p.Cys25=) rs13286358 0.10217
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_005045.4(RELN):c.2989C>G (p.Leu997Val) rs362691 0.10133
NM_000512.5(GALNS):c.199C>A (p.Leu67Met) rs11862754 0.10099
NM_004369.4(COL6A3):c.9213C>T (p.His3071=) rs2270671 0.10029
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986 0.09986
NM_000261.2(MYOC):c.227G>A (p.Arg76Lys) rs2234926 0.09970
NM_001130987.2(DYSF):c.951+4T>C rs11903960 0.09951
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402 0.09880
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr) rs62415828 0.09865
NM_001142800.2(EYS):c.4081A>G (p.Ile1361Val) rs17403955 0.09853
NM_001142800.2(EYS):c.4543C>T (p.Arg1515Trp) rs62415827 0.09842
NM_001142800.2(EYS):c.4549A>G (p.Ser1517Gly) rs62415826 0.09832
NM_000492.4(CFTR):c.1210-13G>T rs10229820 0.09791
NM_201384.3(PLEC):c.9777T>A (p.Ser3259=) rs34644439 0.09690
NM_001378615.1(CC2D2A):c.2003+19C>T rs17476642 0.09677
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989 0.09621
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496 0.09551
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu) rs1801688 0.09526
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831 0.09402
NM_030665.4(RAI1):c.4530C>T (p.Pro1510=) rs35686634 0.09361
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) rs10197596 0.09320
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala) rs7833870 0.09284
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525 0.09281
NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys) rs1801687 0.09261
NM_001367721.1(CASK):c.1034-6C>T rs73470569 0.09241
NM_001267550.2(TTN):c.7545C>T (p.Tyr2515=) rs2291306 0.09235
NM_001849.4(COL6A2):c.1735-30A>G rs73382466 0.09173
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met) rs2306942 0.09135
NM_006073.4(TRDN):c.1408C>A (p.Leu470Met) rs6569336 0.09024
CYP2C9*2 rs1799853 0.08975
NM_001267550.2(TTN):c.24516C>T (p.Thr8172=) rs72648978 0.08958
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657 0.08930
NM_182914.3(SYNE2):c.1721T>C (p.Ile574Thr) rs9944035 0.08879
NM_000036.3(AMPD1):c.143C>T (p.Pro48Leu) rs61752479 0.08857
NM_182914.3(SYNE2):c.12001T>C (p.Trp4001Arg) rs2792205 0.08782
NM_182914.3(SYNE2):c.12002G>A (p.Trp4001Ter) rs2781377 0.08740
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.08719
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_153033.5(KCTD7):c.267G>A (p.Thr89=) rs3764904 0.08655
NM_201384.3(PLEC):c.12561C>T (p.Asp4187=) rs11998271 0.08588
NM_004985.5(KRAS):c.451-9G>A rs12313763 0.08467
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125 0.08466
NM_033337.3(CAV3):c.27C>T (p.Leu9=) rs1974763 0.08452
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_006158.5(NEFL):c.1170-13T>C rs76347846 0.08329
NM_001077418.3(TMEM231):c.813G>A (p.Val271=) rs2242406 0.08287
NM_003919.3(SGCE):c.391-3T>C rs17166384 0.08209
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg) rs35548026 0.08193
NM_000426.4(LAMA2):c.4523+19C>T rs17057158 0.08168
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=) rs61741041 0.08115
NM_000110.4(DPYD):c.496A>G (p.Met166Val) rs2297595 0.08071
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877 0.08050
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626 0.08017
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412 0.07986
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) rs1266787 0.07947
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254 0.07931
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His) rs11549936 0.07892
NM_006493.4(CLN5):c.-76A>G rs7987664 0.07840
NM_000466.3(PEX1):c.-53C>G rs12386703 0.07798
NM_000553.6(WRN):c.340G>A (p.Val114Ile) rs2230009 0.07797
NM_201384.3(PLEC):c.9073G>A (p.Val3025Ile) rs35027700 0.07759
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.07737
NM_000748.3(CHRNB2):c.1338+14G>T rs4845378 0.07732
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp) rs1800401 0.07659
NM_003865.3(HESX1):c.374A>G (p.Asn125Ser) rs9878928 0.07568
NM_001363.5(DKC1):c.1461C>T (p.Ala487=) rs1127051 0.07549
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu) rs36117715 0.07538
NM_000137.4(FAH):c.267G>C (p.Leu89=) rs33929922 0.07529
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=) rs1800130 0.07467
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07445
NM_005857.5(ZMPSTE24):c.651T>C (p.Asp217=) rs2076697 0.07398
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala) rs17029215 0.07361
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07353
NM_201384.3(PLEC):c.3378G>A (p.Glu1126=) rs11991764 0.07344
NM_004369.4(COL6A3):c.8962A>G (p.Met2988Val) rs11690358 0.07295
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser) rs34544747 0.07202
NM_024757.5(EHMT1):c.1368C>T (p.Leu456=) rs45450992 0.07198
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=) rs61753724 0.07191
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=) rs184087864 0.07175
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_001277115.2(DNAH11):c.2835A>G (p.Gln945=) rs17144747 0.07116
NM_147127.5(EVC2):c.-15G>A rs76269601 0.07112
NM_201384.3(PLEC):c.10920C>T (p.Tyr3640=) rs28455570 0.07092
NM_182961.4(SYNE1):c.12363G>T (p.Lys4121Asn) rs28385621 0.07062
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4]) rs398124622 0.06994
NM_001386393.1(PANK2):c.2T>A rs71647828 0.06976
NM_020365.5(EIF2B3):c.149-4A>G rs72887005 0.06955
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg) rs28711516 0.06950
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn) rs17849848 0.06910
NM_004369.4(COL6A3):c.8451A>G (p.Pro2817=) rs61729844 0.06907
NM_004369.4(COL6A3):c.7842C>T (p.Ser2614=) rs34558385 0.06903
NM_022436.3(ABCG5):c.148C>T (p.Arg50Cys) rs6756629 0.06901
NM_004369.4(COL6A3):c.8820G>A (p.Thr2940=) rs11683438 0.06890
NM_032119.4(ADGRV1):c.8730+10_8730+11insC rs377585302 0.06843
NM_006005.3(WFS1):c.2322G>A (p.Lys774=) rs2230721 0.06809
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly) rs112562759 0.06801
NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile) rs3737821 0.06797
NM_001365536.1(SCN9A):c.3802-4A>G rs75230218 0.06754
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
CYP2D6*41 rs28371725 0.06736
NM_000335.5(SCN5A):c.5841C>T (p.Ile1947=) rs13324293 0.06728
NM_004369.4(COL6A3):c.7329C>T (p.Ala2443=) rs10084221 0.06701
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=) rs10201909 0.06660
NM_183050.4(BCKDHB):c.344-24C>T rs73479953 0.06567
NM_022437.3(ABCG8):c.55G>C (p.Asp19His) rs11887534 0.06566
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_020361.5(CPA6):c.518C>G (p.Ser173Cys) rs17853192 0.06550
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=) rs2228071 0.06536
NM_201384.3(PLEC):c.4644G>A (p.Ala1548=) rs62642470 0.06519
NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser) rs150688899 0.06491
NM_002206.3(ITGA7):c.415-10C>T rs11171661 0.06475
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356 0.06463
NM_181332.3(NLGN4X):c.1251G>C (p.Arg417=) rs61741754 0.06453
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_021728.4(OTX2):c.*10G>A rs171978 0.06420
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) rs1801591 0.06414
NM_000335.5(SCN5A):c.274-24C>T rs7627488 0.06378
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_000381.4(MID1):c.1230C>T (p.Ser410=) rs16986145 0.06185
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571 0.06134
NM_001927.4(DES):c.578+11G>A rs111548596 0.06130
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871 0.06110
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His) rs10164753 0.06031
NM_001367624.2(ZNF469):c.3516T>C (p.Arg1172=) rs111557381 0.06017
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=) rs56726774 0.06016
NM_000744.7(CHRNA4):c.51G>A (p.Leu17=) rs79739740 0.05992
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) rs3827760 0.05968
NM_005045.4(RELN):c.6702T>C (p.Cys2234=) rs2075043 0.05938
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
NM_000489.6(ATRX):c.4659T>C (p.His1553=) rs25641 0.05840
NM_002206.3(ITGA7):c.810G>A (p.Gly270=) rs3847675 0.05834
NM_201384.3(PLEC):c.7726C>T (p.Leu2576=) rs11988293 0.05812
NM_201384.3(PLEC):c.5865G>A (p.Ala1955=) rs62642469 0.05798
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314 0.05752
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln) rs11896521 0.05751
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323 0.05742
NM_201384.3(PLEC):c.7878G>A (p.Leu2626=) rs34803322 0.05741
NM_000552.5(VWF):c.2220G>A (p.Met740Ile) rs2228317 0.05696
NM_001814.6(CTSC):c.1357A>G (p.Ile453Val) rs3888798 0.05696
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr) rs2229738 0.05682
NM_002458.3(MUC5B):c.15861A>G (p.Pro5287=) rs56344012 0.05669
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn) rs11888217 0.05644
NM_001025389.2(AMPD3):c.553C>T (p.Arg185Trp) rs11042836 0.05626
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=) rs3848618 0.05626
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser) rs58824375 0.05620
NM_001849.4(COL6A2):c.1970-23G>C rs78764604 0.05599
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=) rs1064822 0.05512
NM_001379110.1(SLC9A6):c.1306+8G>A rs6654310 0.05510
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys) rs79241126 0.05477
NM_000231.3(SGCG):c.*13C>T rs9510701 0.05421
NM_001042631.3(SDHAF1):c.333C>G (p.Arg111=) rs76336581 0.05399
NM_025114.4(CEP290):c.5709+18C>A rs7973969 0.05367
NM_052845.4(MMAB):c.135-23T>C rs66580225 0.05340
NM_025114.4(CEP290):c.442-19T>A rs113132803 0.05334
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593 0.05293
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519 0.05277
NM_201384.3(PLEC):c.9101C>T (p.Ala3034Val) rs35858667 0.05256
NM_201384.3(PLEC):c.8025C>T (p.Gly2675=) rs35139934 0.05241
NM_000016.6(ACADM):c.351A>C (p.Thr117=) rs74090726 0.05204
NM_000283.4(PDE6B):c.915G>A (p.Thr305=) rs75695239 0.05186
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339 0.05158
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_001848.3(COL6A1):c.1002+37A>G rs11702174 0.05111
NM_207352.4(CYP4V2):c.327+11G>C rs62350517 0.05079
NM_006031.6(PCNT):c.5858G>A (p.Arg1953His) rs34268261 0.05068
NM_006005.3(WFS1):c.1367G>A (p.Arg456His) rs1801208 0.04977
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_018129.4(PNPO):c.347G>A (p.Arg116Gln) rs17679445 0.04944
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239 0.04939
NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln) rs1800407 0.04917
NM_024757.5(EHMT1):c.1869C>T (p.Asn623=) rs7868455 0.04901
CYP2C9*3 rs1057910 0.04900
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410 0.04825
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile) rs56142888 0.04798
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929 0.04795
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) rs3219484 0.04794
NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys) rs1130183 0.04770
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200 0.04760
NM_001374353.1(GLI2):c.2889C>T (p.Ser963=) rs146811565 0.04735
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_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_032638.5(GATA2):c.564G>C (p.Thr188=) rs34870876 0.04681
NM_201384.3(PLEC):c.3717C>T (p.Ala1239=) rs112173070 0.04668
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405 0.04656
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185 0.04642
NM_000070.3(CAPN3):c.2380+12del rs28364538 0.04623
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405 0.04608
NM_001244008.2(KIF1A):c.4319-8C>T rs1529663 0.04602
NM_057176.3(BSND):c.127G>A (p.Val43Ile) rs34561376 0.04587
NM_201384.3(PLEC):c.11601C>T (p.Asp3867=) rs75833626 0.04561
NM_173660.5(DOK7):c.753G>A (p.Ala251=) rs59932476 0.04559
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=) rs2228490 0.04552
NM_001367624.2(ZNF469):c.1285G>A (p.Ala429Thr) rs113937803 0.04541
NM_020717.5(SHROOM4):c.3168T>C (p.Arg1056=) rs61753881 0.04533
NM_005045.4(RELN):c.8136A>G (p.Leu2712=) rs3808039 0.04529
NM_001146079.2(CLDN14):c.11C>T (p.Thr4Met) rs113831133 0.04508
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe) rs16841081 0.04499
NM_024757.5(EHMT1):c.129A>T (p.Ala43=) rs76684726 0.04476
NM_000367.5(TPMT):c.719A>G (p.Tyr240Cys) rs1142345 0.04459
NM_005105.5(RBM8A):c.*6C>G rs12079762 0.04454
NM_005477.3(HCN4):c.107G>A (p.Gly36Glu) rs143090627 0.04452
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968 0.04425
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315 0.04402
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04399
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607 0.04393
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=) rs58465962 0.04390
NM_000492.4(CFTR):c.-8G>C rs1800501 0.04368
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418 0.04349
NM_001164508.2(NEB):c.20467-4T>A rs199791504 0.04348
NM_001130987.2(DYSF):c.3575-17C>T rs13421969 0.04340
NM_000601.6(HGF):c.910G>A (p.Glu304Lys) rs5745687 0.04328
NM_013382.7(POMT2):c.1891+49C>T rs61990292 0.04323
NM_000942.4(PPIB):c.-171C>T rs112481305 0.04313
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_004977.3(KCNC3):c.123G>T (p.Gln41His) rs185017345 0.04227
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile) rs41309927 0.04225
NM_052845.4(MMAB):c.288T>C (p.Ile96=) rs62000414 0.04206
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=) rs35959206 0.04188
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val) rs77469944 0.04185
NM_001367624.2(ZNF469):c.1143C>A (p.Pro381=) rs74032864 0.04134
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359 0.04130
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_033343.4(LHX4):c.450C>T (p.Asn150=) rs16855642 0.04109
NM_001256789.3(CACNA1F):c.2673+3G>A rs41312124 0.04106
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=) rs16916221 0.04084
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=) rs2272727 0.04082
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_005045.4(RELN):c.1596G>A (p.Gln532=) rs41276154 0.04078
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998 0.04075
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn) rs3813243 0.04071
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893 0.04049
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425 0.04013
NM_018965.4(TREM2):c.632T>C (p.Leu211Pro) rs2234256 0.04010
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976 0.03996
NM_198525.3(KIF7):c.-5T>G rs62021460 0.03972
NM_201384.3(PLEC):c.5583G>A (p.Ala1861=) rs75586449 0.03960
NM_139343.3(BIN1):c.894G>A (p.Ser298=) rs2228955 0.03955
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095 0.03933
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val) rs3731752 0.03923
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_001035.3(RYR2):c.13564-41A>G rs114289907 0.03849
NM_001165963.4(SCN1A):c.2176+17A>G rs59251406 0.03846
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334 0.03832
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=) rs16947296 0.03818
NM_005422.4(TECTA):c.624+11C>G rs73599492 0.03810
NM_000110.4(DPYD):c.2194G>A (p.Val732Ile) rs1801160 0.03794
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862 0.03791
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03789
NM_005045.4(RELN):c.8508C>T (p.Phe2836=) rs2229862 0.03751
NM_201384.3(PLEC):c.718+10C>T rs12545876 0.03717
NM_201384.3(PLEC):c.11599G>C (p.Asp3867His) rs62642465 0.03714
NM_000295.5(SERPINA1):c.840T>C (p.Asp280=) rs1049800 0.03703
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val) rs16866412 0.03700
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_201384.3(PLEC):c.6314C>T (p.Ala2105Val) rs74772299 0.03697
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_201384.3(PLEC):c.2548G>A (p.Ala850Thr) rs58836306 0.03656
NM_006493.4(CLN5):c.173+8C>T rs9565308 0.03653
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala) rs9014 0.03641
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324 0.03639
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592 0.03631
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=) rs2286128 0.03626
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_152564.5(VPS13B):c.3667-7C>T rs35543295 0.03607
NM_000433.4(NCF2):c.1167C>A (p.His389Gln) rs17849502 0.03605
NM_002474.3(MYH11):c.5172-14C>T rs34839877 0.03595
NM_000541.5(SAG):c.375+11C>T rs74356516 0.03568
NM_001849.4(COL6A2):c.714+9C>T rs78822624 0.03565
NM_019066.5(MAGEL2):c.3151C>A (p.Leu1051Ile) rs2233070 0.03565
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_144997.7(FLCN):c.1233G>A (p.Glu411=) rs61750032 0.03557
NM_133642.5(LARGE1):c.1731-24T>C rs73399532 0.03540
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_173495.3(PTCHD1):c.93G>A (p.Ala31=) rs12014412 0.03486
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser) rs3742030 0.03470
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu) rs28934585 0.03462
NM_017775.3(TTC19):c.-347C>A rs60636875 0.03461
NM_032119.4(ADGRV1):c.6289C>T (p.Arg2097Cys) rs16868974 0.03455
NM_001130987.2(DYSF):c.460+17G>C rs115170960 0.03446
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271 0.03441
NM_002206.3(ITGA7):c.824G>A (p.Arg275His) rs74867235 0.03438
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=) rs16978875 0.03433
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529 0.03418
NM_031885.5(BBS2):c.1659+3A>G rs6499838 0.03415
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463 0.03414
NM_001287.6(CLCN7):c.900G>A (p.Ala300=) rs41286695 0.03405
NM_000071.3(CBS):c.317-46G>C rs75873792 0.03396
NM_152419.3(HGSNAT):c.493+46G>T rs72647302 0.03382
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=) rs2230036 0.03373
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430 0.03370
NM_004360.5(CDH1):c.48+5C>G rs77312180 0.03370
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val) rs111631988 0.03363
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_006343.3(MERTK):c.60A>T (p.Arg20Ser) rs35898499 0.03355
NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr) rs45598239 0.03352
NM_001130987.2(DYSF):c.951+39T>C rs74384941 0.03312
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982 0.03311
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671 0.03303
NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln) rs2066518 0.03294
NM_000070.3(CAPN3):c.1029+3A>G rs28364442 0.03285
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373 0.03282
NM_001128178.3(NPHP1):c.771+39C>T rs73954628 0.03266
NM_001848.3(COL6A1):c.1773G>A (p.Pro591=) rs74852641 0.03265
NM_001130987.2(DYSF):c.666T>C (p.Pro222=) rs35392229 0.03244
NM_033100.4(CDHR1):c.2434C>T (p.Pro812Ser) rs45584033 0.03229
NM_177965.4(CFAP418):c.55C>G (p.Pro19Ala) rs36096184 0.03219
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756 0.03206
NM_000439.5(PCSK1):c.661A>G (p.Asn221Asp) rs6232 0.03201
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141 0.03191
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017 0.03176
NM_000142.5(FGFR3):c.588C>T (p.Arg196=) rs2305180 0.03125
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu) rs8177536 0.03119
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser) rs398124605 0.03116
NM_000540.3(RYR1):c.2871-5C>T rs45585535 0.03110
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser) rs79691946 0.03108
NM_022039.4(FBXW4):c.534C>G (p.Ala178=) rs61761937 0.03084
NM_020751.3(COG6):c.1693-6A>T rs78336861 0.03077
NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn) rs1132036 0.03072
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_001918.5(DBT):c.1281+31T>G rs115696850 0.03046
NM_144672.4(OTOA):c.2229C>T (p.Ala743=) rs461179 0.03046
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03031
NM_001130987.2(DYSF):c.1577-1635C>G rs76402294 0.03029
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=) rs61741123 0.03029
NM_031433.4(MFRP):c.770G>A (p.Arg257His) rs61736238 0.03023
NM_000489.6(ATRX):c.228G>A (p.Ser76=) rs5959371 0.03016
NM_014009.4(FOXP3):c.543C>T (p.Ser181=) rs2232367 0.03006
NM_001848.3(COL6A1):c.2435-19C>T rs115181427 0.03003
NM_212550.5(BLOC1S3):c.322C>G (p.Leu108Val) rs75792246 0.02993
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp) rs1800278 0.02976
NM_153240.5(NPHP3):c.2571-7T>C rs62292468 0.02974
NM_000540.3(RYR1):c.4107C>T (p.Pro1369=) rs11882640 0.02972
NM_018006.5(TRMU):c.10T>G (p.Leu4Val) rs114302881 0.02970
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_182914.3(SYNE2):c.7690A>G (p.Ile2564Val) rs11628107 0.02936
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_000096.4(CP):c.2554+17G>A rs35593818 0.02896
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720 0.02889
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val) rs41305353 0.02876
NM_000277.3(PAH):c.707-7A>T rs62508624 0.02868
NM_182894.3(VSX2):c.831G>A (p.Leu277=) rs62006815 0.02860
NM_001848.3(COL6A1):c.2781C>T (p.Tyr927=) rs61735853 0.02858
NM_004183.4(BEST1):c.1023C>T (p.Pro341=) rs1801390 0.02837
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys) rs28933977 0.02826
NM_001122630.2(CDKN1C):c.-11+60G>A rs143992355 0.02792
NC_000023.11:g.136648058A>C rs36206512 0.02791
NM_020451.3(SELENON):c.981C>T (p.Arg327=) rs147587542 0.02788
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp) rs1800273 0.02767
NM_194248.3(OTOF):c.158C>T (p.Ala53Val) rs1879761 0.02762
NM_002024.6(FMR1):c.433G>T (p.Ala145Ser) rs29281 0.02758
NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly) rs3750904 0.02756
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_004369.4(COL6A3):c.1976G>A (p.Arg659His) rs36092870 0.02734
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626 0.02731
NM_000391.4(TPP1):c.381-10dup rs146315473 0.02726
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val) rs35077384 0.02717
NM_006765.4(TUSC3):c.912G>A (p.Ser304=) rs17121892 0.02710
NM_001848.3(COL6A1):c.1823-31C>T rs117330552 0.02707
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_001927.4(DES):c.408C>T (p.Leu136=) rs111828114 0.02697
NM_000466.3(PEX1):c.2584-20T>A rs111535201 0.02687
NM_001849.4(COL6A2):c.679G>A (p.Asp227Asn) rs35881321 0.02685
NM_000106.6(CYP2D6):c.1012G>A (p.Val338Met) rs59421388 0.02682
NM_004369.4(COL6A3):c.9123G>A (p.Thr3041=) rs61729843 0.02678
NM_003240.5(LEFTY2):c.857C>T (p.Pro286Leu) rs2295418 0.02669
NM_004369.4(COL6A3):c.882C>T (p.Phe294=) rs7561625 0.02665
NM_000367.5(TPMT):c.460G>A (p.Ala154Thr) rs1800460 0.02661
NM_213599.3(ANO5):c.2521-13A>G rs76850415 0.02660
NM_001142800.2(EYS):c.5977A>G (p.Thr1993Ala) rs115066356 0.02657
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671 0.02649
NM_001042702.5(PJVK):c.874G>A (p.Gly292Arg) rs79399438 0.02648
NM_018451.5(CPAP):c.163C>G (p.Pro55Ala) rs17081389 0.02639
NM_004369.4(COL6A3):c.1313-17A>G rs7579816 0.02624
NM_001348946.2(ABCB1):c.1199G>A (p.Ser400Asn) rs2229109 0.02618
NM_000618.5(IGF1):c.*263T>A rs70961704 0.02615
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915 0.02614
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=) rs34292743 0.02604
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179 0.02602
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) rs61748445 0.02598
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln) rs8187801 0.02594
NM_007254.4(PNKP):c.1189-10del rs3739205 0.02593
NM_001372044.2(SHANK3):c.2386G>A (p.Ala796Thr) rs61729471 0.02583
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072 0.02574
NM_004006.3(DMD):c.2623-11C>G rs1028360 0.02567
NM_012301.4(MAGI2):c.3915G>A (p.Gln1305=) rs117054456 0.02550
NM_020223.4(FAM20C):c.1652G>A (p.Arg551His) rs150231592 0.02546
NM_001035.3(RYR2):c.8437-7dup rs148246251 0.02544
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075 0.02537
NM_001323289.2(CDKL5):c.555-19C>G rs75057928 0.02527
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02522
NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu) rs3765310 0.02518
NM_003482.4(KMT2D):c.15978T>G (p.Leu5326=) rs55776396 0.02513
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_006790.3(MYOT):c.149A>G (p.Gln50Arg) rs34717730 0.02506
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874 0.02502
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678 0.02490
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=) rs34836829 0.02488
NM_201384.3(PLEC):c.5229G>A (p.Ala1743=) rs140406501 0.02486
NM_006493.4(CLN5):c.87C>G (p.Ala29=) rs138037471 0.02484
NM_014249.4(NR2E3):c.488T>C (p.Met163Thr) rs1805021 0.02481
NM_006208.3(ENPP1):c.-10C>T rs750410843 0.02463
NM_003482.4(KMT2D):c.12028T>C (p.Ser4010Pro) rs80132640 0.02449
NM_001130987.2(DYSF):c.4222-20G>A rs111935215 0.02442
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly) rs11539201 0.02438
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692 0.02436
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288 0.02435
NM_000441.2(SLC26A4):c.1708-18T>A rs55701254 0.02432
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=) rs34181055 0.02427
NM_001360016.2(G6PD):c.1431C>T (p.Pro477=) rs77214077 0.02424
NM_003482.4(KMT2D):c.248G>A (p.Arg83Gln) rs55865069 0.02422
NM_003839.4(TNFRSF11A):c.75+5G>A rs146553439 0.02406
NM_022095.4(ZNF335):c.3187C>A (p.Arg1063=) rs11905235 0.02405
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040 0.02403
NM_001080413.3(NOBOX):c.349C>T (p.Arg117Trp) rs7800847 0.02403
NM_003923.3(FOXH1):c.373A>T (p.Thr125Ser) rs112028242 0.02391
NM_014249.4(NR2E3):c.419A>G (p.Glu140Gly) rs1805020 0.02391
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu) rs111033183 0.02384
NM_003383.5(VLDLR):c.24G>A (p.Ala8=) rs34336270 0.02372
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe) rs10040427 0.02340
NM_001297.5(CNGB1):c.3556C>T (p.Pro1186Ser) rs7190372 0.02335
NM_133642.5(LARGE1):c.576C>T (p.Pro192=) rs36002910 0.02334
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr) rs41311343 0.02332
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187 0.02323
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_001146079.2(CLDN14):c.63G>A (p.Thr21=) rs117560775 0.02306
NM_145861.4(EDARADD):c.60G>A (p.Glu20=) rs60808129 0.02304
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=) rs12373107 0.02286
NM_000142.5(FGFR3):c.615+8C>G rs17878375 0.02283
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_001367624.2(ZNF469):c.10975G>A (p.Gly3659Arg) rs3812951 0.02265
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile) rs76889468 0.02262
NM_000540.3(RYR1):c.5622A>G (p.Glu1874=) rs35021937 0.02251
NM_024312.5(GNPTAB):c.1612+28T>C rs74389509 0.02246
NM_024312.5(GNPTAB):c.3693+10A>T rs76021817 0.02246
NM_025136.4(OPA3):c.-38A>G rs45527139 0.02241
NM_015340.4(LARS2):c.972C>A (p.His324Gln) rs71645922 0.02237
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355 0.02232
NC_000002.12:g.178535859A>G rs202214630 0.02222
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299 0.02215
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_198525.3(KIF7):c.1444-4A>G rs112333674 0.02204
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=) rs11913417 0.02196
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) rs2229420 0.02193
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_022455.5(NSD1):c.7636G>A (p.Ala2546Thr) rs78247455 0.02182
NM_024079.5(ALG8):c.1316T>C (p.Ile439Thr) rs17825668 0.02180
NM_024757.5(EHMT1):c.128C>G (p.Ala43Gly) rs79514677 0.02177
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_030665.4(RAI1):c.264G>A (p.Gln88=) rs61999281 0.02170
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
NM_000540.3(RYR1):c.11754T>A (p.Thr3918=) rs45613041 0.02154
NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu) rs11910483 0.02152
NM_020549.5(CHAT):c.141C>G (p.Asp47Glu) rs3810948 0.02150
NM_000540.3(RYR1):c.11908-14A>G rs2292799 0.02149
NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu) rs4802584 0.02143
NM_000540.3(RYR1):c.11260-19T>G rs4802583 0.02140
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_001164508.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780 0.02113
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_004369.4(COL6A3):c.5100G>A (p.Arg1700=) rs34340053 0.02105
NM_020433.5(JPH2):c.1289-7C>T rs116986535 0.02105
NM_133433.4(NIPBL):c.4561-9T>A rs79924167 0.02103
NM_000144.5(FXN):c.-7G>A rs145006100 0.02101
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050 0.02098
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys) rs16990264 0.02084
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607 0.02075
NM_001849.4(COL6A2):c.116-34G>A rs117154313 0.02070
NM_002206.3(ITGA7):c.2433-5G>A rs79745402 0.02069
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129 0.02065
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=) rs13879 0.02053
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) rs111840875 0.02050
NM_006059.4(LAMC3):c.92G>T (p.Arg31Leu) rs116259120 0.02047
NM_000180.4(GUCY2D):c.3225-7C>T rs79887212 0.02045
NM_013382.7(POMT2):c.1007-32G>A rs79509556 0.02044
NM_005045.4(RELN):c.26A>C (p.Gln9Pro) rs115165703 0.02037
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995 0.02035
NM_004369.4(COL6A3):c.1786G>T (p.Ala596Ser) rs34934127 0.02035
NM_000180.4(GUCY2D):c.3297G>A (p.Pro1099=) rs142351773 0.02033
NM_001165963.4(SCN1A):c.1662+9C>A rs7559148 0.02030
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met) rs41312104 0.02014
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249 0.02007
NM_000179.3(MSH6):c.2253T>C (p.Asn751=) rs2020913 0.02003
NM_001035.3(RYR2):c.11557+19C>T rs113408406 0.01994
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245 0.01993
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala) rs56018860 0.01992
NM_001267550.2(TTN):c.91852+8T>A rs56145100 0.01992
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr) rs3731745 0.01991
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212 0.01991
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser) rs3813246 0.01989
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=) rs3813247 0.01986
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile) rs56309296 0.01985
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr) rs56365600 0.01984
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys) rs56057221 0.01984
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=) rs56214710 0.01979
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_000709.4(BCKDHA):c.639C>T (p.Ile213=) rs10404506 0.01970
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=) rs2960319 0.01964
NM_004172.5(SLC1A3):c.657G>C (p.Glu219Asp) rs2032892 0.01962
NM_004369.4(COL6A3):c.7086A>C (p.Gly2362=) rs35902696 0.01962
NM_006915.3(RP2):c.844C>T (p.Arg282Trp) rs1805147 0.01957
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=) rs72648950 0.01956
NM_000154.2(GALK1):c.611+34G>A rs76743658 0.01955
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177 0.01951
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369 0.01950
NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser) rs117781224 0.01941
NM_000138.5(FBN1):c.1960+30G>A rs25459 0.01932
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
NM_152618.3(BBS12):c.378G>T (p.Glu126Asp) rs309369 0.01932
NM_005045.4(RELN):c.7110T>C (p.Val2370=) rs362746 0.01926
NM_001100.4(ACTA1):c.996C>A (p.Ile332=) rs74897770 0.01920
NM_133642.5(LARGE1):c.309C>T (p.Ser103=) rs59349720 0.01920
NM_001385875.1(ZFYVE27):c.378G>A (p.Lys126=) rs75060573 0.01901
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145 0.01900
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala) rs34154371 0.01899
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=) rs61735829 0.01898
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) rs36064831 0.01896
NM_001017995.3(SH3PXD2B):c.1712C>T (p.Pro571Leu) rs111230322 0.01893
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) rs35641839 0.01879
NM_153252.5(BRWD3):c.813+10G>C rs55824836 0.01875
NM_194318.4(B3GLCT):c.271-12T>C rs117111131 0.01874
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000168.6(GLI3):c.2835G>C (p.Leu945=) rs61758978 0.01858
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln) rs73399520 0.01853
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_001330078.2(NRXN1):c.900C>T (p.Pro300=) rs2303298 0.01844
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=) rs35993209 0.01827
NM_000100.4(CSTB):c.15G>T (p.Ala5=) rs4533 0.01826
NM_153240.5(NPHP3):c.864T>A (p.Thr288=) rs147932449 0.01825
NM_004369.4(COL6A3):c.3071-16G>A rs73998896 0.01822
NM_004369.4(COL6A3):c.7668+21G>C rs11897148 0.01818
NM_004369.4(COL6A3):c.8145A>G (p.Leu2715=) rs35763271 0.01816
NM_004369.4(COL6A3):c.7995A>C (p.Ala2665=) rs80193928 0.01815
NM_001034116.2(EIF2B4):c.916C>G (p.Arg306Gly) rs78599355 0.01806
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser) rs185987427 0.01804
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
NM_001848.3(COL6A1):c.1957-5C>T rs78224483 0.01793
NM_173660.5(DOK7):c.-6C>G rs191800156 0.01785
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375 0.01781
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe) rs2163649 0.01776
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_000440.3(PDE6A):c.998+11C>T rs75319698 0.01758
NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln) rs34162630 0.01756
NM_000142.5(FGFR3):c.348C>T (p.Arg116=) rs2305179 0.01752
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=) rs16029 0.01749
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288 0.01748
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_001370658.1(BTD):c.-94C>T rs114567021 0.01730
NM_000426.4(LAMA2):c.8124T>A (p.Gly2708=) rs34997144 0.01727
NM_000245.4(MET):c.1124A>G (p.Asn375Ser) rs33917957 0.01723
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000 0.01714
NM_003482.4(KMT2D):c.7188T>C (p.Cys2396=) rs111305262 0.01710
NM_004183.4(BEST1):c.618G>A (p.Leu206=) rs62641693 0.01704
NM_004183.4(BEST1):c.619C>A (p.Leu207Ile) rs74653691 0.01704
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995 0.01693
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956 0.01688
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=) rs35984374 0.01679
NM_004006.3(DMD):c.832-17C>A rs72470514 0.01678
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948 0.01676
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323 0.01675
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557 0.01665
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_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser) rs114376238 0.01651
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939 0.01642
NM_201384.3(PLEC):c.9945C>T (p.Ser3315=) rs28657061 0.01636
NM_001100.4(ACTA1):c.129+31C>A rs144658220 0.01631
NM_006208.3(ENPP1):c.-13G>A rs535293574 0.01629
NM_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808 0.01628
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) rs35289681 0.01618
NM_001145809.2(MYH14):c.483G>A (p.Met161Ile) rs34773557 0.01615
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_000104.4(CYP1B1):c.1328C>G (p.Ala443Gly) rs4986888 0.01612
NM_031433.4(MFRP):c.355A>G (p.Ile119Val) rs4639950 0.01611
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_000552.5(VWF):c.5049A>C (p.Ala1683=) rs79275181 0.01607
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401 0.01606
NM_016239.4(MYO15A):c.2238G>T (p.Arg746Ser) rs79760961 0.01604
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_004004.6(GJB2):c.-15C>T rs72561725 0.01589
NM_020365.5(EIF2B3):c.1202+8T>G rs77068026 0.01589
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390 0.01583
NM_001848.3(COL6A1):c.1524+15G>A rs116000285 0.01582
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592 0.01574
NM_014384.3(ACAD8):c.512C>G (p.Ser171Cys) rs113488591 0.01568
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=) rs2230158 0.01567
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_001614.5(ACTG1):c.729C>T (p.Pro243=) rs2230159 0.01563
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly) rs41288773 0.01560
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250 0.01555
NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val) rs12481791 0.01548
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=) rs80356578 0.01544
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_021098.3(CACNA1H):c.1664C>T (p.Ala555Val) rs9924241 0.01528
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779 0.01527
NM_004369.4(COL6A3):c.6157-16G>A rs112637114 0.01524
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_001171.6(ABCC6):c.3507-3C>T rs41278172 0.01517
NM_033087.4(ALG2):c.30C>G (p.Asp10Glu) rs7023652 0.01515
NM_021098.3(CACNA1H):c.5897C>T (p.Ala1966Val) rs72552054 0.01514
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01511
NM_004006.3(DMD):c.832-18C>G rs72470515 0.01505
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln) rs74034910 0.01504
NM_023110.3(FGFR1):c.2187-6C>T rs4647904 0.01503
NM_000143.4(FH):c.904+47G>A rs145209119 0.01502
NM_000271.5(NPC1):c.2514+6C>T rs73392120 0.01501
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01499
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) rs17125721 0.01497
NM_006208.3(ENPP1):c.2002G>A (p.Glu668Lys) rs115371819 0.01496
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=) rs77533254 0.01496
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
NM_000124.4(ERCC6):c.528A>G (p.Arg176=) rs4253027 0.01480
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_002693.3(POLG):c.128A>G (p.Gln43Arg) rs28567406 0.01478
NM_004977.3(KCNC3):c.1929C>T (p.Gly643=) rs111744086 0.01476
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln) rs61995925 0.01476
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677 0.01472
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291 0.01469
NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met) rs35737219 0.01462
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370 0.01462
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val) rs79079368 0.01455
NM_201384.3(PLEC):c.13205C>T (p.Thr4402Met) rs113513807 0.01455
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg) rs1800057 0.01452
NM_000492.4(CFTR):c.*1043A>C rs10234329 0.01452
NM_001384732.1(CPLANE1):c.1125A>G (p.Pro375=) rs61745362 0.01450
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_144773.4(PROKR2):c.802C>T (p.Arg268Cys) rs78861628 0.01447
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01445
NM_001061.7(TBXAS1):c.1349C>A (p.Thr450Asn) rs5763 0.01438
NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=) rs35242963 0.01438
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala) rs12493789 0.01436
NM_002206.3(ITGA7):c.1965T>C (p.Cys655=) rs7971022 0.01436
NM_006005.3(WFS1):c.9C>T (p.Ser3=) rs71524363 0.01435
NM_173660.5(DOK7):c.1351C>T (p.Arg451Trp) rs16844470 0.01433
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val) rs16866391 0.01426
NM_006059.4(LAMC3):c.-2C>T rs137883250 0.01424
NM_001297.5(CNGB1):c.712G>A (p.Gly238Ser) rs61745888 0.01420
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252 0.01416
NM_031885.5(BBS2):c.1413A>C (p.Val471=) rs35294865 0.01415
NM_173660.5(DOK7):c.1143C>T (p.Pro381=) rs56769879 0.01415
NM_139343.3(BIN1):c.1362G>T (p.Gly454=) rs61748155 0.01414
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=) rs116888435 0.01403
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=) rs2303836 0.01401
NM_002471.4(MYH6):c.3979-7del rs397516766 0.01401
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01393
NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp) rs140776870 0.01391
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met) rs35785620 0.01390
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_004560.4(ROR2):c.75G>A (p.Leu25=) rs148237260 0.01389
NM_201384.3(PLEC):c.4557G>A (p.Ser1519=) rs79705634 0.01389
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln) rs35824453 0.01388
NM_004369.4(COL6A3):c.3054C>T (p.Asn1018=) rs34367758 0.01387
NM_000321.3(RB1):c.2212-16T>A rs201258424 0.01386
NM_004369.4(COL6A3):c.9411T>C (p.Cys3137=) rs112290343 0.01385
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305 0.01384
NM_000048.4(ASL):c.1164C>T (p.His388=) rs75300185 0.01380
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) rs1801158 0.01380
NM_001297.5(CNGB1):c.606A>G (p.Glu202=) rs76788887 0.01379
NM_001848.3(COL6A1):c.1443G>A (p.Glu481=) rs80244281 0.01378
NM_004369.4(COL6A3):c.3420G>A (p.Thr1140=) rs35489467 0.01378
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=) rs80225158 0.01377
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01377
NM_201384.3(PLEC):c.6577C>T (p.Leu2193=) rs28610521 0.01376
NM_000540.3(RYR1):c.7835+7C>T rs114522234 0.01374
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu) rs6262 0.01372
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_002103.5(GYS1):c.1246A>G (p.Met416Val) rs5447 0.01369
NM_001164508.2(NEB):c.195G>A (p.Pro65=) rs79524813 0.01367
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757 0.01363
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435 0.01358
NM_000282.4(PCCA):c.1429+7A>G rs16957276 0.01356
NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=) rs533485167 0.01351
NM_020751.3(COG6):c.898C>T (p.His300Tyr) rs34555836 0.01351
NM_138694.4(PKHD1):c.11174+11A>G rs115072237 0.01349
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile) rs16883930 0.01342
NM_001195553.2(DCX):c.947-46T>C rs113181679 0.01340
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318 0.01339
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_170682.4(P2RX2):c.554+14C>A rs151253585 0.01337
NM_004369.4(COL6A3):c.8822C>T (p.Ala2941Val) rs11903206 0.01334
NM_153033.5(KCTD7):c.654C>T (p.Asp218=) rs117194263 0.01331
NM_001015880.2(PAPSS2):c.28G>A (p.Glu10Lys) rs17173698 0.01330
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876 0.01322
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285 0.01316
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly) rs11203289 0.01309
NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888 0.01307
NM_000263.4(NAGLU):c.764+19C>G rs77738617 0.01306
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser) rs61731962 0.01305
NM_000352.6(ABCC8):c.3329+6C>T rs113873225 0.01304
NM_201384.3(PLEC):c.7110C>T (p.Ala2370=) rs80143277 0.01298
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831 0.01296
NM_016156.6(MTMR2):c.1634A>G (p.Asn545Ser) rs558018 0.01295
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646 0.01295
NM_138694.4(PKHD1):c.8673C>G (p.Arg2891=) rs116098879 0.01291
NM_000209.4(PDX1):c.162G>A (p.Leu54=) rs28509441 0.01287
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924 0.01285
NM_000433.4(NCF2):c.890T>C (p.Val297Ala) rs35937854 0.01284
NM_014251.3(SLC25A13):c.1671C>T (p.Thr557=) rs79886797 0.01284
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734 0.01280
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572 0.01280
NM_019066.5(MAGEL2):c.901C>T (p.Pro301Ser) rs138154793 0.01279
NM_000106.6(CYP2D6):c.775del (p.Arg259fs) rs35742686 0.01277
NM_001142800.2(EYS):c.9030A>G (p.Ala3010=) rs61754905 0.01277
NM_000546.6(TP53):c.639A>G (p.Arg213=) rs1800372 0.01275
NM_000077.5(CDKN2A):c.-25C>T rs144481587 0.01273
NM_031900.4(AGXT2):c.1188+1G>A rs114286107 0.01270
NM_001159699.2(FHL1):c.737-13T>C rs11798700 0.01269
NM_001164508.2(NEB):c.8592T>C (p.Asp2864=) rs61730772 0.01264
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=) rs16866467 0.01263
NM_001110556.2(FLNA):c.2433C>T (p.Ala811=) rs35986650 0.01258
NM_000426.4(LAMA2):c.1798G>A (p.Gly600Arg) rs36044314 0.01250
NM_006416.5(SLC35A1):c.7G>T (p.Ala3Ser) rs149903512 0.01248
NM_020822.3(KCNT1):c.2210C>T (p.Thr737Met) rs61744696 0.01246
NM_001127649.3(PEX26):c.*10C>T rs117472525 0.01244
NM_001371623.1(TCOF1):c.1229C>T (p.Ser410Leu) rs114326915 0.01242
NM_022132.5(MCCC2):c.1574+37C>G rs138725621 0.01241
NM_004385.5(VCAN):c.8622G>A (p.Ala2874=) rs3096171 0.01237
NM_012193.4(FZD4):c.97C>T (p.Pro33Ser) rs61735304 0.01236
NM_024740.2(ALG9):c.764C>T (p.Ser255Leu) rs17113312 0.01232
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_201384.3(PLEC):c.2305-10del rs142120912 0.01228
NM_032409.3(PINK1):c.1426G>A (p.Glu476Lys) rs115477764 0.01222
NM_005609.4(PYGM):c.1569C>G (p.Leu523=) rs114138772 0.01217
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134 0.01212
NM_004006.3(DMD):c.3021G>A (p.Ser1007=) rs1800268 0.01212
NM_000436.4(OXCT1):c.480G>T (p.Gly160=) rs78432029 0.01211
NM_024312.5(GNPTAB):c.2611G>A (p.Gly871Ser) rs56212569 0.01207
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu) rs34313873 0.01205
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281 0.01204
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725 0.01203
NM_004369.4(COL6A3):c.1389C>T (p.Ala463=) rs112896869 0.01203
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069 0.01203
NM_005379.4(MYO1A):c.1277C>T (p.Pro426Leu) rs4759043 0.01201
NM_000271.5(NPC1):c.3246-20G>A rs6507717 0.01199
NM_001848.3(COL6A1):c.2061C>A (p.Leu687=) rs8132678 0.01197
NM_022168.4(IFIH1):c.2767A>G (p.Ile923Val) rs35667974 0.01195
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364 0.01193
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913 0.01192
NM_206933.4(USH2A):c.688G>A (p.Val230Met) rs45500891 0.01191
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792 0.01187
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938 0.01185
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691 0.01184
NM_001848.3(COL6A1):c.859-20C>T rs78884675 0.01182
NM_001848.3(COL6A1):c.717+32C>T rs114454809 0.01179
NM_005045.4(RELN):c.3839G>A (p.Gly1280Glu) rs55689103 0.01176
NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn) rs151315725 0.01175
NM_022124.6(CDH23):c.1423G>A (p.Val475Met) rs62622410 0.01173
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg) rs17355460 0.01172
NM_020717.5(SHROOM4):c.3734C>T (p.Ser1245Leu) rs12689863 0.01172
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu) rs115857753 0.01168
NM_001177316.2(SLC34A3):c.539G>C (p.Gly180Ala) rs35643193 0.01167
NM_001848.3(COL6A1):c.958-17G>A rs79364611 0.01165
NM_138694.4(PKHD1):c.11878G>A (p.Val3960Ile) rs34548196 0.01161
NM_000512.5(GALNS):c.1413C>T (p.Val471=) rs73251084 0.01159
NM_001166114.2(PNPLA6):c.2706C>T (p.Gly902=) rs113264142 0.01159
NM_000070.3(CAPN3):c.2433T>C (p.Val811=) rs28364543 0.01154
NM_138694.4(PKHD1):c.8174-18T>A rs111383080 0.01154
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_001122659.3(EDNRB):c.561C>T (p.Ile187=) rs5349 0.01149
NM_001849.4(COL6A2):c.2592G>A (p.Thr864=) rs1042930 0.01149
NM_004369.4(COL6A3):c.768C>T (p.Val256=) rs79606264 0.01148
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_003482.4(KMT2D):c.8047-15C>T rs202244933 0.01140
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298 0.01139
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_018941.4(CLN8):c.274C>T (p.His92Tyr) rs34030778 0.01138
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=) rs11574895 0.01135
NM_001374623.1(PNPLA1):c.1464T>A (p.Tyr488Ter) rs45621032 0.01134
NM_153240.5(NPHP3):c.57G>C (p.Thr19=) rs192633696 0.01128
NM_018668.5(VPS33B):c.-8C>T rs11542639 0.01125
NM_018965.4(TREM2):c.*73G>A rs2234258 0.01125
NM_000163.5(GHR):c.1319G>T (p.Cys440Phe) rs6182 0.01122
NM_001848.3(COL6A1):c.645G>A (p.Ala215=) rs115292913 0.01120
NM_000550.3(TYRP1):c.278G>A (p.Arg93His) rs61752937 0.01118
NM_201384.3(PLEC):c.7266C>T (p.Leu2422=) rs117306121 0.01118
NM_004333.6(BRAF):c.-19C>T rs71645935 0.01115
NM_005787.6(ALG3):c.319A>G (p.Ile107Val) rs2233463 0.01115
NM_201384.3(PLEC):c.3192C>T (p.Arg1064=) rs73377210 0.01114
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167 0.01110
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352 0.01109
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_001256715.2(DNAAF3):c.323-17T>G rs10407660 0.01106
NM_001377.3(DYNC2H1):c.6478-6C>T rs114254215 0.01103
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly) rs28363284 0.01102
NM_014795.4(ZEB2):c.930C>T (p.Tyr310=) rs6711223 0.01102
NM_001164688.2(RD3):c.584A>T (p.Asp195Val) rs143207434 0.01101
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu) rs61733587 0.01098
NM_175914.5(HNF4A):c.*167T>A rs11574744 0.01097
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val) rs12484657 0.01096
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046 0.01096
NM_017780.4(CHD7):c.4534-13T>G rs114996731 0.01094
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln) rs3219497 0.01092
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg) rs11098943 0.01088
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
NM_000321.3(RB1):c.380+12T>C rs3092881 0.01087
NM_001278116.2(L1CAM):c.2872C>G (p.Leu958Val) rs35902890 0.01086
NM_004369.4(COL6A3):c.4727G>A (p.Arg1576Gln) rs61729839 0.01085
NM_201384.3(PLEC):c.5477G>A (p.Arg1826Gln) rs147838690 0.01083
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 0.01080
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856 0.01079
NM_004006.3(DMD):c.1225A>T (p.Thr409Ser) rs34155804 0.01079
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=) rs56375087 0.01075
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile) rs55842557 0.01073
NM_000717.5(CA4):c.700G>A (p.Val234Ile) rs117704637 0.01071
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) rs1805069 0.01068
NM_022367.4(SEMA4A):c.2044C>T (p.Pro682Ser) rs76381440 0.01066
NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser) rs2499481 0.01066
NM_000152.5(GAA):c.1075+13C>T rs41292402 0.01065
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=) rs6972869 0.01065
NM_005045.4(RELN):c.1799C>T (p.Ser600Phe) rs78008536 0.01065
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr) rs113155945 0.01061
NM_020451.3(SELENON):c.583G>A (p.Ala195Thr) rs115852080 0.01060
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758 0.01056
NM_000059.4(BRCA2):c.8487+19A>G rs11571743 0.01055
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_000451.4(SHOX):c.870G>A (p.Leu290=) rs746391025 0.01047
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748 0.01047
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys) rs17843865 0.01046
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902 0.01045
NM_004006.3(DMD):c.7310-36C>T rs72466586 0.01045
NM_001305581.2(LRMDA):c.132-253012del rs146123023 0.01042
NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg) rs35198096 0.01041
NM_153427.3(PITX2):c.46+8C>G rs199896960 0.01041
NM_001278116.2(L1CAM):c.720G>A (p.Pro240=) rs35151382 0.01040
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_003659.4(AGPS):c.147C>T (p.Pro49=) rs34442536 0.01033
NM_000098.3(CPT2):c.1767G>A (p.Thr589=) rs77565483 0.01032
NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser) rs35156360 0.01032
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555 0.01028
NM_006517.5(SLC16A2):c.123C>T (p.Pro41=) rs369603991 0.01028
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met) rs117761837 0.01028
NM_003863.4(DPM2):c.183G>A (p.Leu61=) rs11552794 0.01027
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) rs35889956 0.01026
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707 0.01025
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=) rs62636220 0.01025
NM_012186.3(FOXE3):c.423G>A (p.Lys141=) rs145081583 0.01025
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_001918.5(DBT):c.1281+6T>G rs140115881 0.01022
NM_020366.4(RPGRIP1):c.2417C>T (p.Thr806Ile) rs142796310 0.01022
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) rs11466045 0.01021
NM_000512.5(GALNS):c.1002+17C>T rs78494153 0.01020
NM_004006.3(DMD):c.31+36949C>T rs182597890 0.01020
NM_001849.4(COL6A2):c.2983G>A (p.Ala995Thr) rs35139588 0.01019
NM_000074.3(CD40LG):c.655G>A (p.Gly219Arg) rs148594123 0.01015
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_006486.3(FBLN1):c.72G>A (p.Ala24=) rs559662894 0.01015
NM_004369.4(COL6A3):c.4005C>T (p.Gly1335=) rs34503558 0.01014
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314 0.01013
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile) rs1800269 0.01009
NM_020549.5(CHAT):c.2067C>T (p.Ile689=) rs3793801 0.01009
NM_001848.3(COL6A1):c.2441A>G (p.Lys814Arg) rs11553518 0.01008
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) rs55961436 0.01005
NM_004260.4(RECQL4):c.2238G>A (p.Ala746=) rs35215952 0.01004
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102 0.01003
NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val) rs1127291 0.01003
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01003
NM_000388.4(CASR):c.2610G>A (p.Glu870=) rs143738711 0.01002
NM_001079802.2(FKTN):c.42G>A (p.Thr14=) rs78794935 0.01002
NM_005120.3(MED12):c.5535C>T (p.Asn1845=) rs34784349 0.01002
NM_001079802.2(FKTN):c.106-40A>G rs79175958 0.01001
NM_001079802.2(FKTN):c.106-10G>A rs148384394 0.01000
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723 0.01000
NM_198506.5(LRIT3):c.565C>T (p.Leu189Phe) rs75301950 0.01000
NM_000452.3(SLC10A2):c.868C>T (p.Pro290Ser) rs56398830 0.00998
NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys) rs61735835 0.00998
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe) rs140118273 0.00997
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=) rs184883626 0.00997
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) rs9378252 0.00995
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_001371623.1(TCOF1):c.2245C>T (p.Pro749Ser) rs73270846 0.00993
NM_213599.3(ANO5):c.1029C>T (p.Asp343=) rs78899595 0.00992
NM_003361.4(UMOD):c.538C>G (p.Leu180Val) rs187555378 0.00991
NM_001360.3(DHCR7):c.99-4G>A rs140748737 0.00988
NM_005199.5(CHRNG):c.951C>A (p.Ile317=) rs75369104 0.00988
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754 0.00985
NM_000515.5(GH1):c.116C>T (p.Ala39Val) rs151263636 0.00985
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.00985
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val) rs142735148 0.00983
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) rs147266709 0.00982
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141 0.00982
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_001077365.2(POMT1):c.78G>A (p.Gly26=) rs149554732 0.00980
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) rs59252892 0.00979
NM_000540.3(RYR1):c.7737G>A (p.Val2579=) rs114975624 0.00971
NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val) rs149140724 0.00970
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415 0.00969
NM_201384.3(PLEC):c.2832C>T (p.Gly944=) rs145050858 0.00969
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys) rs12471771 0.00967
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747 0.00964
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_001130823.3(DNMT1):c.290A>G (p.His97Arg) rs16999593 0.00959
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu) rs111347025 0.00958
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu) rs1007211 0.00957
NM_001324144.2(ZNF41):c.945T>G (p.Asp315Glu) rs2498170 0.00954
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu) rs74518295 0.00953
NM_005876.5(SPEG):c.116T>C (p.Val39Ala) rs565137573 0.00953
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970 0.00952
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00948
NM_021098.3(CACNA1H):c.6234C>T (p.Cys2078=) rs59844753 0.00947
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168 0.00946
NM_001130987.2(DYSF):c.3757-12C>T rs114968209 0.00943
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys) rs1521808 0.00943
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810 0.00942
NM_001277115.2(DNAH11):c.10739G>A (p.Arg3580His) rs34879202 0.00942
NM_001367624.2(ZNF469):c.1697C>T (p.Ala566Val) rs181785233 0.00939
NM_001136193.2(FASTKD2):c.-51A>G rs116297724 0.00938
NM_002076.4(GNS):c.21C>G (p.Ala7=) rs61743823 0.00937
NM_001367624.2(ZNF469):c.2814G>A (p.Ala938=) rs140480823 0.00931
NM_004260.4(RECQL4):c.1879-15C>A rs35126141 0.00929
NM_170707.4(LMNA):c.1158-44C>T rs141879453 0.00929
NM_006017.3(PROM1):c.55T>G (p.Ser19Ala) rs189108830 0.00928
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850 0.00928
NM_001848.3(COL6A1):c.1740+50C>T rs148205490 0.00926
NM_000203.5(IDUA):c.299+6C>T rs147498923 0.00924
NM_000249.4(MLH1):c.1732-19T>A rs77120160 0.00923
NM_001848.3(COL6A1):c.2424G>T (p.Gln808His) rs140547835 0.00922
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala) rs78266558 0.00922
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_138694.4(PKHD1):c.391-43T>A rs116414807 0.00920
NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp) rs62646879 0.00919
NM_033087.4(ALG2):c.17G>C (p.Gly6Ala) rs180849348 0.00918
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
NM_001360016.2(G6PD):c.645-17C>T rs5986875 0.00915
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=) rs62151609 0.00915
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843 0.00914
NM_000552.5(VWF):c.5313G>T (p.Gly1771=) rs2229448 0.00914
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00910
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625 0.00908
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_005677.4(COLQ):c.291G>A (p.Ser97=) rs115201284 0.00908
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_005413.4(SIX3):c.525G>A (p.Gln175=) rs116680477 0.00907
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322 0.00906
NM_007254.4(PNKP):c.1127-8C>T rs3739203 0.00901
NM_004369.4(COL6A3):c.6408+44A>G rs78398512 0.00900
NM_000744.7(CHRNA4):c.24G>C (p.Ala8=) rs6089898 0.00898
NM_182961.4(SYNE1):c.26209G>A (p.Gly8737Ser) rs2295191 0.00898
NM_003361.4(UMOD):c.1740+38C>T rs116674896 0.00897
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303 0.00897
NM_198525.3(KIF7):c.2271C>T (p.Ala757=) rs35451920 0.00897
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr) rs191886831 0.00894
NM_001128227.3(GNE):c.-10G>A rs73449614 0.00894
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=) rs34541442 0.00893
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala) rs150047904 0.00893
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747 0.00892
NM_000523.4(HOXD13):c.41C>T (p.Ala14Val) rs555136684 0.00891
UGT1A1*6 rs4148323 0.00891
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr) rs11570680 0.00890
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_004369.4(COL6A3):c.6156+4C>T rs111228504 0.00884
CYP2D6*6 rs5030655 0.00883
NM_001202.6(BMP4):c.370+28G>A rs72680532 0.00883
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301 0.00881
NM_001114753.3(ENG):c.1374A>G (p.Pro458=) rs34828244 0.00879
NM_000326.5(RLBP1):c.346+3_346+8del rs56307321 0.00878
NM_020975.6(RET):c.375C>A (p.Val125=) rs1800859 0.00877
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053 0.00876
NM_001277115.2(DNAH11):c.576A>G (p.Ile192Met) rs72655972 0.00876
NM_000540.3(RYR1):c.10259+7G>A rs143752962 0.00875
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) rs79040751 0.00875
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=) rs193922854 0.00873
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_012186.3(FOXE3):c.16G>A (p.Asp6Asn) rs765169217 0.00868
NM_022437.3(ABCG8):c.51C>A (p.Pro17=) rs72647316 0.00868
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104 0.00867
NM_004183.4(BEST1):c.1474G>A (p.Val492Ile) rs111326315 0.00867
NM_004700.4(KCNQ4):c.-14G>T rs886042324 0.00867
NM_004977.3(KCNC3):c.1641G>A (p.Ser547=) rs2301357 0.00867
NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val) rs141309384 0.00866
NM_019066.5(MAGEL2):c.1446T>C (p.Ala482=) rs2233065 0.00866
NM_032575.3(GLIS2):c.70C>A (p.Arg24=) rs34543395 0.00866
NM_000426.4(LAMA2):c.8548-10T>C rs113644365 0.00865
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_004646.4(NPHS1):c.881C>T (p.Thr294Ile) rs113825926 0.00863
NM_001128178.3(NPHP1):c.772-17G>A rs146343637 0.00862
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
NM_001317778.2(SFTPC):c.43-7G>A rs79440568 0.00861
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987 0.00855
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=) rs140237315 0.00855
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_006009.4(TUBA1A):c.1008G>A (p.Lys336=) rs11829764 0.00853
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00852
NM_201384.3(PLEC):c.1752C>T (p.Pro584=) rs185978075 0.00852
NM_000404.4(GLB1):c.552+21G>A rs76275661 0.00847
NM_001853.4(COL9A3):c.308G>A (p.Arg103Gln) rs142639450 0.00847
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val) rs75937132 0.00847
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868 0.00845
NM_181426.2(CCDC39):c.2660dup (p.Ser888fs) rs200353947 0.00844
NM_006393.3(NEBL):c.2182A>G (p.Thr728Ala) rs71535732 0.00843
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_019066.5(MAGEL2):c.383T>C (p.Leu128Pro) rs191559595 0.00841
NM_000033.4(ABCD1):c.901-16C>T rs41302176 0.00840
NM_000255.4(MMUT):c.1992G>A (p.Ala664=) rs144146728 0.00839
NM_015338.6(ASXL1):c.3519G>A (p.Leu1173=) rs117901891 0.00839
NM_001195553.2(DCX):c.705+48A>G rs201805884 0.00836
NM_001298.3(CNGA3):c.458C>T (p.Thr153Met) rs34314205 0.00836
NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met) rs61740509 0.00831
NM_000186.4(CFH):c.2634C>T (p.His878=) rs35292876 0.00829
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_002335.4(LRP5):c.266A>G (p.Gln89Arg) rs41494349 0.00826
NM_004006.3(DMD):c.-419A>G rs150939177 0.00821
NM_004715.5(CTDP1):c.213G>C (p.Gly71=) rs201234471 0.00821
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721 0.00820
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=) rs150857429 0.00816
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_001371623.1(TCOF1):c.1783G>A (p.Val595Ile) rs75583421 0.00814
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_003332.4(TYROBP):c.163G>T (p.Val55Leu) rs77782321 0.00810
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068 0.00810
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_001079802.2(FKTN):c.166-6A>G rs41277795 0.00808
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596 0.00808
NM_018136.5(ASPM):c.5185C>T (p.Arg1729Trp) rs41299623 0.00808
NM_020451.3(SELENON):c.747+39C>T rs114458946 0.00808
NM_000327.4(ROM1):c.868del (p.Gln290fs) rs548233813 0.00807
NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg) rs144635565 0.00806
NM_001079802.2(FKTN):c.910+14G>A rs76180538 0.00806
NM_001123385.2(BCOR):c.1650C>T (p.Thr550=) rs17145653 0.00806
NM_001083961.2(WDR62):c.2991C>T (p.Ala997=) rs77898819 0.00804
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) rs61910685 0.00804
NM_133497.4(KCNV2):c.849G>A (p.Glu283=) rs17656693 0.00801
NM_000540.3(RYR1):c.13464G>A (p.Pro4488=) rs10405232 0.00800
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744 0.00795
NM_024757.5(EHMT1):c.1369+9C>T rs146125583 0.00794
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=) rs80039127 0.00793
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_000466.3(PEX1):c.2901G>A (p.Gln967=) rs111704518 0.00792
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406 0.00792
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=) rs116660078 0.00791
NM_016239.4(MYO15A):c.6796G>A (p.Val2266Met) rs114274755 0.00791
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879 0.00790
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) rs149055334 0.00789
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=) rs148275339 0.00788
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu) rs56219475 0.00787
NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met) rs78461695 0.00787
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_001277313.2(FMN1):c.2044-1818A>G rs74655292 0.00784
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_170707.4(LMNA):c.438C>T (p.Ala146=) rs80356805 0.00782
NM_018100.4(EFHC1):c.662G>A (p.Arg221His) rs79761183 0.00778
NM_000141.5(FGFR2):c.294G>A (p.Thr98=) rs1047101 0.00776
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387 0.00775
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356 0.00774
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366 0.00773
NM_203288.2(RP9):c.664del (p.Ter222AspextTer?) rs553265417 0.00773
NM_000875.5(IGF1R):c.1914C>T (p.Asn638=) rs45506098 0.00771
NM_138694.4(PKHD1):c.7110-7T>A rs113034899 0.00770
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_001367624.2(ZNF469):c.10361G>A (p.Arg3454Gln) rs75288466 0.00769
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=) rs140791735 0.00769
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=) rs11571642 0.00768
NM_000843.4(GRM6):c.1307C>T (p.Thr436Ile) rs5019554 0.00766
NM_004273.5(CHST3):c.1173C>A (p.Ile391=) rs115579748 0.00763
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172 0.00760
NM_001080.3(ALDH5A1):c.10T>G (p.Cys4Gly) rs200793796 0.00760
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) rs56177950 0.00760
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) rs147155126 0.00758
NM_130837.3(OPA1):c.2961C>T (p.Arg987=) rs35540805 0.00758
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val) rs3729952 0.00756
NM_001081.4(CUBN):c.2594G>A (p.Ser865Asn) rs138083522 0.00756
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_000282.4(PCCA):c.2119-43T>C rs150390822 0.00754
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu) rs143414291 0.00754
NM_130837.3(OPA1):c.2049A>G (p.Val683=) rs73069703 0.00753
NM_000231.3(SGCG):c.-6T>C rs141771521 0.00749
NM_000875.5(IGF1R):c.2700C>T (p.Asn900=) rs56400113 0.00749
NM_198999.3(SLC26A5):c.-53-2A>G rs116900495 0.00748
NM_015338.6(ASXL1):c.1954G>A (p.Gly652Ser) rs3746609 0.00747
NM_001384140.1(PCDH15):c.4672-1637G>A rs139441645 0.00746
NM_001166114.2(PNPLA6):c.2133G>A (p.Leu711=) rs113335442 0.00745
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943 0.00744
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_004006.3(DMD):c.3603+8A>G rs193249735 0.00743
NM_006432.5(NPC2):c.442-4A>C rs114950106 0.00742
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys) rs72957510 0.00742
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=) rs111033477 0.00740
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr) rs116826041 0.00739
NM_020297.4(ABCC9):c.3409G>A (p.Val1137Ile) rs147895473 0.00739
NM_004999.4(MYO6):c.1120T>C (p.Tyr374His) rs61732664 0.00738
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
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_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln) rs183329050 0.00737
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg) rs192925278 0.00734
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile) rs35707762 0.00734
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783 0.00733
NM_019066.5(MAGEL2):c.1079C>T (p.Ala360Val) rs111759069 0.00733
NM_024408.4(NOTCH2):c.4311C>T (p.Gly1437=) rs34561092 0.00733
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00733
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048 0.00732
NM_003640.5(ELP1):c.1230G>A (p.Pro410=) rs41278359 0.00732
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) rs112469769 0.00730
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=) rs45464693 0.00730
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00729
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys) rs146953558 0.00728
NM_014780.5(CUL7):c.4762C>A (p.Leu1588Ile) rs147493246 0.00727
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591 0.00724
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509 0.00723
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg) rs139014478 0.00721
NM_144997.7(FLCN):c.1538+14T>G rs112111994 0.00721
NM_001844.5(COL2A1):c.708+8C>T rs41317893 0.00720
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558 0.00719
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505 0.00719
NM_002335.4(LRP5):c.687-8G>A rs190810239 0.00718
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855 0.00718
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys) rs141703710 0.00717
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381 0.00715
NM_001164508.2(NEB):c.2832C>T (p.Ser944=) rs114076205 0.00714
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_018965.4(TREM2):c.185G>A (p.Arg62His) rs143332484 0.00714
NM_201384.3(PLEC):c.4635G>A (p.Ala1545=) rs76426116 0.00714
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_001848.3(COL6A1):c.1823-8G>A rs184666690 0.00711
NM_006662.3(SRCAP):c.7571C>G (p.Ser2524Cys) rs75125670 0.00711
NM_207034.2(EDN3):c.-248G>A rs542818479 0.00709
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_201384.3(PLEC):c.9435C>T (p.Asp3145=) rs60091617 0.00708
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258 0.00707
NM_001130987.2(DYSF):c.*107T>A rs11903223 0.00707
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro) rs565885690 0.00707
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716 0.00706
NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu) rs112571971 0.00706
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn) rs78268395 0.00705
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) rs61548169 0.00705
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00704
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) rs114363936 0.00703
NM_001379110.1(SLC9A6):c.1662-4G>A rs188072063 0.00703
NM_003001.5(SDHC):c.*84G>C rs201210474 0.00703
NM_004316.4(ASCL1):c.123A>G (p.Ala41=) rs558732328 0.00702
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870 0.00702
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492 0.00702
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu) rs17452588 0.00701
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser) rs3827522 0.00701
NM_001025389.2(AMPD3):c.931G>T (p.Val311Leu) rs117706710 0.00700
NM_005609.4(PYGM):c.1092+6dup rs368602234 0.00700
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387 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_001267550.2(TTN):c.39183T>A (p.Pro13061=) rs12474306 0.00697
NM_000540.3(RYR1):c.7281C>T (p.Ala2427=) rs77310009 0.00694
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_133642.5(LARGE1):c.-31G>A rs117199378 0.00694
NM_000059.4(BRCA2):c.517-19C>T rs11571623 0.00693
NM_001902.6(CTH):c.200C>T (p.Thr67Ile) rs28941785 0.00693
NM_000540.3(RYR1):c.6498C>T (p.Leu2166=) rs151313865 0.00691
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=) rs16866423 0.00691
NM_005148.4(UNC119):c.65G>T (p.Gly22Val) rs199714731 0.00691
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919 0.00690
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722 0.00690
NM_001004334.4(GPR179):c.3454T>C (p.Ser1152Pro) rs149252987 0.00689
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423 0.00688
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00688
NM_014363.6(SACS):c.4188C>T (p.His1396=) rs61754477 0.00688
NM_014363.6(SACS):c.6267G>A (p.Ser2089=) rs9550956 0.00688
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224 0.00687
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=) rs41266697 0.00686
NM_000460.4(THPO):c.1030A>G (p.Thr344Ala) rs35794435 0.00685
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe) rs150895887 0.00683
NM_001148.6(ANK2):c.2377-8C>T rs139893914 0.00682
NM_033100.4(CDHR1):c.-1C>T rs114273269 0.00682
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008 0.00681
NM_004387.4(NKX2-5):c.861C>T (p.Ala287=) rs77612903 0.00681
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_000088.4(COL1A1):c.904-9G>T rs141726413 0.00680
NM_001848.3(COL6A1):c.3054C>T (p.His1018=) rs141237809 0.00680
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422 0.00680
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_000035.4(ALDOB):c.-214G>A rs185972191 0.00678
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00678
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884 0.00677
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510 0.00676
NM_001128228.3(TPRN):c.206G>A (p.Arg69Gln) rs548415902 0.00676
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) rs151091241 0.00676
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_000306.4(POU1F1):c.666-5G>A rs76296626 0.00674
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265 0.00674
NM_201384.3(PLEC):c.11940C>T (p.Ile3980=) rs148865812 0.00674
NM_001164508.2(NEB):c.6069G>A (p.Met2023Ile) rs184262608 0.00672
NM_001848.3(COL6A1):c.588+37A>G rs117470181 0.00672
NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu) rs142948530 0.00672
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044 0.00672
NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=) rs149416418 0.00671
NM_000081.4(LYST):c.5945C>T (p.Thr1982Ile) rs146591126 0.00669
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314 0.00669
NM_000543.5(SMPD1):c.719G>A (p.Arg240Gln) rs2634197 0.00668
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) rs111991705 0.00667
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) rs72648960 0.00666
NM_005097.4(LGI1):c.216-55T>C rs143132529 0.00666
NM_000440.3(PDE6A):c.1476A>C (p.Gln492His) rs17711594 0.00665
NM_016239.4(MYO15A):c.10182G>A (p.Ala3394=) rs79230542 0.00665
NM_018136.5(ASPM):c.3742-10T>G rs41299587 0.00665
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro) rs4988111 0.00660
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00660
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=) rs144876996 0.00659
NM_030957.4(ADAMTS10):c.3193G>A (p.Gly1065Ser) rs80046653 0.00659
NM_014000.3(VCL):c.2801C>T (p.Ala934Val) rs16931179 0.00658
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe) rs140029076 0.00658
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_001106.4(ACVR2B):c.1075-5C>T rs115155428 0.00657
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) rs2229474 0.00657
NM_018136.5(ASPM):c.3741+3A>G rs138558822 0.00656
NM_000059.4(BRCA2):c.5704G>A rs4987048 0.00655
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585 0.00654
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954 0.00654
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307 0.00653
NM_001029883.3(PCARE):c.3059A>G (p.Gln1020Arg) rs200367963 0.00653
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_198506.5(LRIT3):c.1509G>A (p.Thr503=) rs76587489 0.00652
NM_001029883.3(PCARE):c.3058C>A (p.Gln1020Lys) rs201355503 0.00651
NM_001039141.3(TRIOBP):c.1158C>T (p.Asp386=) rs116964444 0.00651
NM_001195263.2(PDZD7):c.1008C>T (p.Pro336=) rs144469613 0.00650
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302 0.00650
NM_018714.3(COG1):c.1049C>T (p.Thr350Met) rs117344829 0.00650
NM_005677.4(COLQ):c.1108G>A (p.Asp370Asn) rs116373583 0.00649
NM_201384.3(PLEC):c.4223C>T (p.Ala1408Val) rs111851716 0.00648
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn) rs36090425 0.00646
NM_001164508.2(NEB):c.8189A>G (p.Asp2730Gly) rs76767949 0.00646
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr) rs151181674 0.00646
NM_032601.4(MCEE):c.102C>G (p.Pro34=) rs146573280 0.00646
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242 0.00646
NM_001384732.1(CPLANE1):c.6957A>G (p.Gln2319=) rs143147192 0.00645
NM_006059.4(LAMC3):c.146A>G (p.Gln49Arg) rs201962705 0.00645
NM_000550.3(TYRP1):c.1500G>A (p.Leu500=) rs34060600 0.00644
NM_001029896.2(WDR45):c.838G>A (p.Val280Met) rs149509552 0.00644
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937 0.00644
NM_004082.5(DCTN1):c.3529+5G>A rs72466494 0.00644
NM_031935.3(HMCN1):c.8815G>A (p.Gly2939Ser) rs74967568 0.00644
NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln) rs142032474 0.00643
NM_020451.3(SELENON):c.-14C>A rs867555591 0.00642
NM_000245.4(MET):c.948A>G (p.Ile316Met) rs35225896 0.00641
NM_000426.4(LAMA2):c.1701C>T (p.Ile567=) rs111381107 0.00641
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242 0.00641
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00640
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00640
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00636
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu) rs35738915 0.00636
NM_001165963.4(SCN1A):c.384-20G>C rs192956852 0.00635
NM_005751.5(AKAP9):c.3827G>A (p.Arg1276Gln) rs146797353 0.00635
NM_004447.6(EPS8):c.2113G>A (p.Ala705Thr) rs78763451 0.00634
NM_015311.3(OBSL1):c.3003C>T (p.Ala1001=) rs150691758 0.00634
NM_002764.4(PRPS1):c.456A>G (p.Leu152=) rs61735617 0.00632
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571 0.00632
NM_004447.6(EPS8):c.104A>G (p.His35Arg) rs71532816 0.00631
NM_031433.4(MFRP):c.1635G>A (p.Ala545=) rs138370910 0.00631
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362 0.00631
NM_153026.3(PRICKLE1):c.374T>C (p.Val125Ala) rs34837068 0.00631
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu) rs558770240 0.00630
NM_194248.3(OTOF):c.145C>T (p.Arg49Trp) rs61746568 0.00630
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=) rs146072491 0.00628
NM_001377.3(DYNC2H1):c.10834G>C (p.Asp3612His) rs116872934 0.00628
NM_031220.4(PITPNM3):c.541G>A (p.Val181Ile) rs61755430 0.00628
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_001031710.3(KLHL7):c.1440A>G (p.Lys480=) rs118185564 0.00627
NM_005529.7(HSPG2):c.3056C>T (p.Pro1019Leu) rs62642528 0.00626
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00625
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00625
NM_001379286.1(ZNF423):c.3164C>T (p.Ala1055Val) rs111229124 0.00625
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170 0.00625
NM_152384.3(BBS5):c.620G>A (p.Arg207His) rs35487251 0.00625
NM_003036.4(SKI):c.1974C>T (p.Arg658=) rs201895384 0.00623
NM_004006.3(DMD):c.3787-18T>C rs72468656 0.00621
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile) rs142271930 0.00621
NM_000071.3(CBS):c.1145+7C>T rs201158177 0.00620
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006 0.00618
NM_000275.3(OCA2):c.574-19A>G rs145242923 0.00618
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) rs138407503 0.00618
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974 0.00618
NM_025243.4(SLC19A3):c.309G>A (p.Val103=) rs142837989 0.00618
NM_000726.5(CACNB4):c.1303-3T>C rs143442080 0.00617
NM_015158.5(KANK1):c.149A>T (p.Asp50Val) rs61737971 0.00617
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His) rs1046166 0.00617
NM_201384.3(PLEC):c.13110C>T (p.Ala4370=) rs187810163 0.00617
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289 0.00616
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) rs16020 0.00616
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=) rs16026 0.00616
NM_001999.4(FBN2):c.629-9A>G rs56025995 0.00616
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420 0.00615
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=) rs56181243 0.00615
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509 0.00615
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441 0.00614
NM_000070.3(CAPN3):c.495C>T (p.Phe165=) rs1801324 0.00613
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00613
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe) rs34618570 0.00613
NM_004369.4(COL6A3):c.4285+9G>A rs75780727 0.00613
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273 0.00613
NM_006416.5(SLC35A1):c.19A>C (p.Asn7His) rs114156788 0.00612
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr) rs62625033 0.00610
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728 0.00609
NM_012418.4(FSCN2):c.412C>T (p.His138Tyr) rs143796236 0.00609
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=) rs138477292 0.00609
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) rs185002960 0.00608
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) rs113671330 0.00608
NM_000540.3(RYR1):c.4719G>A (p.Pro1573=) rs35480887 0.00607
NM_000540.3(RYR1):c.573C>T (p.Asp191=) rs892054 0.00607
NM_001277115.2(DNAH11):c.1426-9T>C rs72655983 0.00607
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328 0.00606
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly) rs77602559 0.00605
NM_001367624.2(ZNF469):c.4421C>T (p.Ala1474Val) rs199897247 0.00605
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val) rs11545035 0.00605
NM_019066.5(MAGEL2):c.1038G>C (p.Arg346Ser) rs115892604 0.00605
NM_001267550.2(TTN):c.30683-2A>T rs886043892 0.00604
NM_001378414.1(HDAC4):c.1692G>A (p.Lys564=) rs114495208 0.00604
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val) rs184420466 0.00604
NM_001037.5(SCN1B):c.-9C>A rs66671189 0.00603
NM_201384.3(PLEC):c.2961C>T (p.Ser987=) rs149932255 0.00603
NM_001135022.2(ELMOD3):c.865G>A (p.Ala289Thr) rs34973107 0.00602
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501 0.00602
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) rs36023150 0.00602
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023 0.00601
NM_001130987.2(DYSF):c.3337C>T (p.Arg1113Cys) rs141536854 0.00601
NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu) rs186758849 0.00601
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441 0.00600
NM_002180.3(IGHMBP2):c.256+9G>A rs118015540 0.00600
NM_000540.3(RYR1):c.6384C>T (p.Tyr2128=) rs75181912 0.00599
NM_006662.3(SRCAP):c.4603C>G (p.Pro1535Ala) rs117804715 0.00599
NM_015102.5(NPHP4):c.1442-7C>T rs146078470 0.00599
NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile) rs121908970 0.00599
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724 0.00599
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195 0.00598
NM_001195248.2(APTX):c.596G>A (p.Arg199His) rs150886026 0.00598
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile) rs145125791 0.00598
NM_153026.3(PRICKLE1):c.2304C>G (p.Ser768=) rs35854729 0.00598
NM_000059.4(BRCA2):c.9257-16T>C rs11571818 0.00597
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_012301.4(MAGI2):c.276C>G (p.Pro92=) rs146012909 0.00597
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) rs148450315 0.00596
NM_000440.3(PDE6A):c.908C>G (p.Ser303Cys) rs61733363 0.00596
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605 0.00596
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00596
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065 0.00596
NM_001077365.2(POMT1):c.1826-40G>A rs187443595 0.00596
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962 0.00596
NM_001277115.2(DNAH11):c.640A>G (p.Ile214Val) rs117064287 0.00595
NM_001366722.1(GRIP1):c.2606G>A (p.Arg869Gln) rs145115262 0.00595
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350 0.00594
NM_054012.4(ASS1):c.106-10T>G rs73541957 0.00593
NM_024747.6(HPS6):c.698T>G (p.Leu233Arg) rs36078476 0.00592
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) rs61729366 0.00592
NM_001849.4(COL6A2):c.2769C>T (p.His923=) rs140419176 0.00591
NM_020223.4(FAM20C):c.1228T>A (p.Ser410Thr) rs148276213 0.00591
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys) rs77675624 0.00591
NM_000492.4(CFTR):c.164+28A>G rs34010645 0.00589
NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala) rs35884879 0.00589
NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=) rs114126795 0.00589
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424 0.00587
NM_000843.4(GRM6):c.1953C>T (p.Ala651=) rs62638620 0.00587
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_001111067.4(ACVR1):c.44C>G (p.Ala15Gly) rs13406336 0.00586
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759 0.00586
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala) rs56385601 0.00586
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_022089.4(ATP13A2):c.1195+10G>A rs55689004 0.00585
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338 0.00584
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676 0.00583
NM_000249.4(MLH1):c.1038+51C>T rs55986674 0.00582
NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp) rs80297119 0.00582
NM_004006.3(DMD):c.3432+2036A>C rs182575709 0.00580
NM_032119.4(ADGRV1):c.2553+11T>A rs73181640 0.00580
NM_182961.4(SYNE1):c.4789-13G>A rs142900784 0.00579
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834 0.00578
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028 0.00578
NM_000283.4(PDE6B):c.615C>T (p.Asp205=) rs149293844 0.00577
NM_002435.3(MPI):c.982C>T (p.Arg328Trp) rs117089191 0.00577
NM_017780.4(CHD7):c.5051-4C>T rs71640288 0.00577
NM_024105.4(ALG12):c.645G>A (p.Pro215=) rs12167668 0.00577
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444 0.00577
NM_130837.3(OPA1):c.420G>T (p.Val140=) rs35801538 0.00577
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_000254.3(MTR):c.858C>T (p.Pro286=) rs146019467 0.00576
NM_001134363.3(RBM20):c.1881-3C>T rs138436392 0.00575
NM_001558.4(IL10RA):c.21G>C (p.Val7=) rs4252301 0.00575
NM_020066.5(FMN2):c.883T>C (p.Ser295Pro) rs201538863 0.00575
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His) rs73969684 0.00574
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997 0.00574
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_006031.6(PCNT):c.8752-5A>C rs149444205 0.00573
NM_014908.4(DOLK):c.1dup (p.Met1fs) rs531969689 0.00573
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro) rs61734466 0.00572
NM_016120.4(RLIM):c.777G>A (p.Thr259=) rs148132680 0.00572
NM_138694.4(PKHD1):c.2279+13T>G rs188914598 0.00572
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) rs72896268 0.00571
NM_006662.3(SRCAP):c.3302C>A (p.Thr1101Lys) rs149248373 0.00571
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582 0.00570
NM_005379.4(MYO1A):c.916G>A (p.Val306Met) rs55679042 0.00570
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975 0.00570
NM_181882.3(PRX):c.133C>G (p.Arg45Gly) rs115090201 0.00569
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg) rs34132016 0.00569
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324 0.00568
NM_000089.4(COL1A2):c.948C>T (p.Gly316=) rs34511999 0.00566
NM_032601.4(MCEE):c.427C>T (p.Arg143Cys) rs138436961 0.00566
NM_001292063.2(OTOG):c.8542-8C>T rs182750732 0.00565
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_001101426.4(CRPPA):c.346C>T (p.Arg116Cys) rs61744487 0.00561
NM_001848.3(COL6A1):c.739-18C>T rs144843800 0.00561
NM_005802.5(TOPORS):c.2160C>T (p.Tyr720=) rs74328058 0.00561
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_000018.4(ACADVL):c.636C>T (p.Ala212=) rs76547988 0.00560
NM_000515.5(GH1):c.406G>A (p.Val136Ile) rs5388 0.00560
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala) rs79182085 0.00560
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818 0.00559
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=) rs138123155 0.00559
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408 0.00559
NM_019616.4(F7):c.740-10T>C rs3093266 0.00559
NM_000432.4(MYL2):c.381G>A (p.Ala127=) rs2233261 0.00558
NM_005709.4(USH1C):c.1266G>A (p.Thr422=) rs35188020 0.00558
NM_000426.4(LAMA2):c.4437-5T>A rs41285288 0.00557
NM_004260.4(RECQL4):c.1395G>A (p.Thr465=) rs34948955 0.00557
NM_000243.3(MEFV):c.1587+33C>G rs146820856 0.00556
NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=) rs115216455 0.00556
NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) rs149601594 0.00556
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163 0.00555
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe) rs147122501 0.00554
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00553
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843 0.00552
NM_198525.3(KIF7):c.1266C>G (p.Leu422=) rs8030837 0.00552
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln) rs111475461 0.00551
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476 0.00551
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00550
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866 0.00549
NM_004369.4(COL6A3):c.4107C>T (p.Ile1369=) rs35114079 0.00549
NM_017882.3(CLN6):c.298-6C>T rs117038427 0.00549
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573 0.00548
NM_001371623.1(TCOF1):c.2762C>T (p.Pro921Leu) rs150515843 0.00548
NM_002087.4(GRN):c.264+7G>A rs60100877 0.00548
NM_000426.4(LAMA2):c.4470C>T (p.Asp1490=) rs35089085 0.00547
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys) rs2307450 0.00547
NM_001845.6(COL4A1):c.393G>A (p.Glu131=) rs34458255 0.00546
NM_005518.4(HMGCS2):c.858C>T (p.Ser286=) rs1992376 0.00546
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=) rs148493518 0.00546
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=) rs72650003 0.00545
NM_024740.2(ALG9):c.1383C>T (p.Thr461=) rs45516107 0.00545
NM_176824.3(BBS7):c.1512-7A>T rs115987385 0.00545
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_015631.6(TCTN3):c.630T>C (p.Ala210=) rs41299157 0.00543
NM_014714.4(IFT140):c.4040+10C>T rs138364426 0.00542
NM_178012.5(TUBB2B):c.330C>T (p.Ala110=) rs141251993 0.00541
NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser) rs73113975 0.00540
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00539
NM_001037.5(SCN1B):c.300C>T (p.Asp100=) rs16969927 0.00539
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=) rs201733315 0.00539
NM_032229.3(SLITRK6):c.2195G>A (p.Gly732Glu) rs74591375 0.00539
NM_138694.4(PKHD1):c.2407+42T>G rs78918693 0.00539
NM_000266.4(NDP):c.69C>G (p.Asp23Glu) rs5952410 0.00538
NM_001061.7(TBXAS1):c.357G>A (p.Ser119=) rs41275018 0.00538
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=) rs144384573 0.00538
NM_032322.4(RNF135):c.1245G>T (p.Trp415Cys) rs61749868 0.00538
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001 0.00537
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys) rs181067717 0.00536
NM_006204.4(PDE6C):c.1936-9A>G rs182445749 0.00536
NM_001330078.2(NRXN1):c.2421C>T (p.Asn807=) rs115211871 0.00535
NM_003124.5(SPR):c.112G>A (p.Val38Ile) rs146099322 0.00535
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=) rs149796549 0.00535
NM_000843.4(GRM6):c.19G>A (p.Ala7Thr) rs62642053 0.00533
NM_001256715.2(DNAAF3):c.323-4del rs201986299 0.00533
NM_001267550.2(TTN):c.39709+6C>T rs72650067 0.00533
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys) rs149814240 0.00533
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394 0.00532
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_000541.5(SAG):c.250C>T (p.Arg84Cys) rs115857633 0.00530
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891 0.00530
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896 0.00530
NM_016204.4(GDF2):c.911C>T (p.Thr304Met) rs75024165 0.00530
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_139315.3(TAF6):c.1722C>T (p.Thr574=) rs145939245 0.00530
NM_172364.5(CACNA2D4):c.2987T>C (p.Phe996Ser) rs55971855 0.00530
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala) rs11554412 0.00529
NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu) rs77951481 0.00528
NM_152564.5(VPS13B):c.7338T>C (p.Phe2446=) rs150771329 0.00528
NM_182914.3(SYNE2):c.17561T>C (p.Leu5854Pro) rs117070973 0.00528
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464 0.00527
NM_001848.3(COL6A1):c.1119+39C>T rs74982956 0.00527
NM_001370298.3(FGD4):c.1971C>T (p.Ile657=) rs61748364 0.00526
NM_014425.5(INVS):c.740A>G (p.Asn247Ser) rs41312220 0.00526
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175 0.00525
NM_001365951.3(KIF1B):c.2115+6956A>G rs148481786 0.00525
NM_024296.5(CCDC28B):c.463G>A (p.Gly155Arg) rs140234450 0.00525
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291 0.00524
NM_015386.3(COG4):c.1759C>A (p.Gln587Lys) rs113455884 0.00524
NM_182914.3(SYNE2):c.12378C>T (p.Ser4126=) rs36007735 0.00524
NM_002617.4(PEX10):c.6C>G (p.Ala2=) rs112471479 0.00523
NM_001277115.2(DNAH11):c.939C>T (p.Ser313=) rs72655977 0.00522
NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp) rs114823319 0.00522
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg) rs17109261 0.00521
NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile) rs35012521 0.00520
NM_000436.4(OXCT1):c.112C>T (p.Arg38Cys) rs76956231 0.00520
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=) rs76707931 0.00520
NM_012188.5(FOXI1):c.726C>T (p.Ser242=) rs35678180 0.00520
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237 0.00519
NM_004380.3(CREBBP):c.6685G>A (p.Gly2229Ser) rs139688311 0.00518
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile) rs140990288 0.00518
NM_138694.4(PKHD1):c.9829+10T>G rs143526199 0.00518
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_000540.3(RYR1):c.5565C>T (p.Gly1855=) rs61750975 0.00517
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=) rs148157556 0.00517
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=) rs144538918 0.00517
NM_138694.4(PKHD1):c.1964+17G>T rs201349527 0.00517
NM_198576.4(AGRN):c.1123G>T (p.Ala375Ser) rs138031468 0.00517
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp) rs144471022 0.00516
NM_022124.6(CDH23):c.3999G>A (p.Val1333=) rs111033453 0.00516
NM_024105.4(ALG12):c.698G>A (p.Arg233Gln) rs114264124 0.00516
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu) rs115913736 0.00515
NM_000110.4(DPYD):c.775A>G (p.Lys259Glu) rs45589337 0.00513
NM_201384.3(PLEC):c.3351C>T (p.Ala1117=) rs145376880 0.00513
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747 0.00512
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710 0.00511
NM_000273.3(GPR143):c.250+11G>C rs375563631 0.00511
NM_014639.4(SKIC3):c.4187A>G (p.Asn1396Ser) rs116690692 0.00511
NM_032634.4(PIGO):c.2040G>C (p.Leu680=) rs41274877 0.00511
NM_133497.4(KCNV2):c.312T>C (p.Gly104=) rs150685794 0.00511
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_000335.5(SCN5A):c.3508+10C>T rs41258454 0.00510
NM_002206.3(ITGA7):c.3384C>T (p.Pro1128=) rs148170949 0.00509
NM_001385875.1(ZFYVE27):c.126C>T (p.Leu42=) rs17419023 0.00508
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser) rs74315394 0.00508
NM_001039876.3(SYNE4):c.805C>T (p.Leu269=) rs147433902 0.00507
NM_005045.4(RELN):c.6084C>T (p.Gly2028=) rs114019779 0.00507
NM_000052.7(ATP7A):c.610+8G>A rs144616937 0.00506
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430 0.00506
NM_005379.4(MYO1A):c.2390C>T (p.Ser797Phe) rs113470661 0.00506
NM_012254.3(SLC27A5):c.2006C>G (p.Ala669Gly) rs145618122 0.00506
NM_172107.4(KCNQ2):c.2235G>A (p.Pro745=) rs139587368 0.00506
NM_000038.6(APC):c.532-32T>C rs112108777 0.00505
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_000369.5(TSHR):c.106G>C (p.Asp36His) rs61747482 0.00505
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525 0.00505
NM_000744.7(CHRNA4):c.76+18G>T rs199908363 0.00504
NM_001177316.2(SLC34A3):c.779G>A (p.Ser260Asn) rs142918575 0.00504
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_032578.4(MYPN):c.1134C>T (p.Ile378=) rs145701607 0.00504
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=) rs79970751 0.00503
NM_004369.4(COL6A3):c.1471G>C (p.Asp491His) rs112010940 0.00503
NM_004369.4(COL6A3):c.1475C>G (p.Thr492Ser) rs113897824 0.00503
NM_201384.3(PLEC):c.9925C>T (p.Arg3309Cys) rs77303974 0.00503
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465 0.00502
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_005445.4(SMC3):c.2007T>C (p.Tyr669=) rs147404470 0.00501
NM_006393.3(NEBL):c.11C>T (p.Pro4Leu) rs114918858 0.00501
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816 0.00500
NM_000543.5(SMPD1):c.813T>C (p.Pro271=) rs61876771 0.00500
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val) rs72782753 0.00500
NM_003476.5(CSRP3):c.213C>T (p.Ile71=) rs45476991 0.00499
NM_020223.4(FAM20C):c.646G>A (p.Gly216Arg) rs61734970 0.00499
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) rs56056823 0.00499
NM_000843.4(GRM6):c.2092C>G (p.Leu698Val) rs62638623 0.00498
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164 0.00498
NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr) rs79087668 0.00498
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe) rs117447608 0.00497
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327 0.00496
NM_006915.3(RP2):c.260C>T (p.Thr87Ile) rs147783915 0.00496
NM_013382.7(POMT2):c.652G>A (p.Asp218Asn) rs140785104 0.00496
NM_000070.3(CAPN3):c.318C>T (p.Cys106=) rs117609395 0.00495
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile) rs61752970 0.00495
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666 0.00495
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His) rs138642043 0.00495
NM_000392.5(ABCC2):c.3107T>C (p.Ile1036Thr) rs45441199 0.00494
NM_006158.5(NEFL):c.667C>T (p.Leu223=) rs60156239 0.00494
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984 0.00493
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met) rs59286323 0.00493
NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala) rs75831573 0.00493
NM_000541.5(SAG):c.301G>A (p.Ala101Thr) rs141521563 0.00492
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu) rs17216670 0.00492
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) rs61749417 0.00491
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713 0.00491
NM_003839.4(TNFRSF11A):c.327C>T (p.Pro109=) rs35003467 0.00491
NM_006420.3(ARFGEF2):c.423+3A>G rs2295029 0.00491
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629 0.00491
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) rs56013867 0.00491
NM_000443.4(ABCB4):c.1314G>A (p.Thr438=) rs45624933 0.00490
NM_001166114.2(PNPLA6):c.4078G>A (p.Gly1360Ser) rs145178162 0.00490
NM_001367624.2(ZNF469):c.11277C>T (p.Ser3759=) rs372634401 0.00490
NM_024105.4(ALG12):c.631C>T (p.Arg211Cys) rs144665682 0.00490
NM_000377.3(WAS):c.995T>C (p.Val332Ala) rs2737799 0.00489
NM_001164405.2(BHLHA9):c.116C>A (p.Ala39Glu) rs551239535 0.00489
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417 0.00488
NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr) rs79544660 0.00488
NM_006306.4(SMC1A):c.699G>A (p.Val233=) rs145319852 0.00488
NM_006445.4(PRPF8):c.4467C>T (p.Leu1489=) rs113849788 0.00488
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=) rs17849927 0.00488
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=) rs142131750 0.00488
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_194318.4(B3GLCT):c.733G>A (p.Val245Met) rs34830061 0.00488
NM_206933.4(USH2A):c.13440G>A (p.Arg4480=) rs111033378 0.00488
NM_000080.4(CHRNE):c.*6A>G rs55806270 0.00487
NM_001698.3(AUH):c.182C>A (p.Pro61His) rs181327211 0.00487
NM_004999.4(MYO6):c.2982G>A (p.Glu994=) rs55905349 0.00487
NM_000287.4(PEX6):c.330C>G (p.Thr110=) rs140486558 0.00486
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446 0.00486
NM_001297.5(CNGB1):c.634A>T (p.Thr212Ser) rs192628905 0.00486
NM_004006.3(DMD):c.10789C>T (p.Leu3597=) rs1800281 0.00486
NM_004278.4(PIGL):c.424C>A (p.Leu142Met) rs115958467 0.00486
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186 0.00485
NM_014425.5(INVS):c.725C>T (p.Ser242Leu) rs2491097 0.00485
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846 0.00484
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328 0.00483
NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys) rs138139146 0.00483
NM_001374353.1(GLI2):c.720C>T (p.Asp240=) rs142793481 0.00483
NM_004369.4(COL6A3):c.8010G>A (p.Ala2670=) rs79313758 0.00483
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=) rs140065359 0.00482
NM_001365951.3(KIF1B):c.4158G>A (p.Ser1386=) rs116302604 0.00481
NM_003647.3(DGKE):c.35C>T (p.Pro12Leu) rs146866423 0.00481
NM_017950.4(CCDC40):c.630C>T (p.Ser210=) rs117419007 0.00481
NM_004273.5(CHST3):c.561G>C (p.Val187=) rs147804585 0.00480
NM_021098.3(CACNA1H):c.2265C>T (p.Gly755=) rs61073355 0.00480
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=) rs145806603 0.00479
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856 0.00479
NM_000540.3(RYR1):c.5634G>C (p.Glu1878Asp) rs114203198 0.00479
NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys) rs57865060 0.00478
NM_000540.3(RYR1):c.9414G>A (p.Pro3138=) rs116130182 0.00478
NM_001048166.1(STIL):c.3378A>G (p.Arg1126=) rs142315727 0.00478
NM_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=) rs143312971 0.00478
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=) rs12721379 0.00478
NM_018006.5(TRMU):c.387A>G (p.Ala129=) rs144586525 0.00478
NM_006946.4(SPTBN2):c.3282G>A (p.Pro1094=) rs114241603 0.00477
NM_024408.4(NOTCH2):c.3980A>G (p.Asp1327Gly) rs61752484 0.00477
NM_001136193.2(FASTKD2):c.29G>C (p.Ser10Thr) rs147727753 0.00476
NM_001377.3(DYNC2H1):c.3097-4A>G rs368802969 0.00476
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710 0.00475
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484 0.00475
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143 0.00475
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_000152.5(GAA):c.546+18G>A rs190153982 0.00474
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394 0.00474
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=) rs62427038 0.00474
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=) rs34211419 0.00473
NM_015295.3(SMCHD1):c.2147-7C>T rs113524119 0.00473
NM_198506.5(LRIT3):c.1621A>G (p.Ile541Val) rs35997283 0.00473
NM_000451.4(SHOX):c.63C>T (p.Gly21=) rs142306835 0.00472
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995 0.00472
NM_001330078.2(NRXN1):c.1760-16C>T rs79422704 0.00472
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala) rs146292575 0.00472
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met) rs587784372 0.00471
NM_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_030813.6(CLPB):c.668G>A (p.Ser223Asn) rs143097446 0.00471
NM_133642.5(LARGE1):c.892+50C>T rs62225294 0.00471
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) rs62346982 0.00470
NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=) rs41289636 0.00470
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938 0.00470
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile) rs115800498 0.00470
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu) rs62272670 0.00470
NM_001379286.1(ZNF423):c.1986C>T (p.His662=) rs75294107 0.00469
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923 0.00468
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=) rs72646857 0.00468
NM_004320.6(ATP2A1):c.663C>G (p.Gly221=) rs113803159 0.00468
NM_005045.4(RELN):c.3712A>C (p.Asn1238His) rs114003896 0.00468
NM_000407.5(GP1BB):c.399C>T (p.Ala133=) rs142352780 0.00467
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049 0.00467
NM_001298.3(CNGA3):c.1569C>T (p.Asn523=) rs61752503 0.00467
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro) rs13171868 0.00467
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013 0.00466
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu) rs145191932 0.00466
NM_003924.4(PHOX2B):c.726A>G (p.Ala242=) rs757355779 0.00466
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) rs1800217 0.00465
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His) rs62295357 0.00465
NM_001374353.1(GLI2):c.4281G>A (p.Met1427Ile) rs146467786 0.00465
NM_001374353.1(GLI2):c.4282C>T (p.Leu1428Phe) rs146207623 0.00465
NM_017534.6(MYH2):c.4329C>T (p.Ala1443=) rs61739663 0.00465
NM_001038603.3(MARVELD2):c.500A>G (p.Gln167Arg) rs139854607 0.00464
NM_001130987.2(DYSF):c.777C>T (p.Ile259=) rs138054675 0.00464
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=) rs182322608 0.00464
NM_007294.4(BRCA1):c.5468-10C>A rs8176316 0.00464
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_006013.5(RPL10):c.23+9T>A rs2070820 0.00463
NM_006182.4(DDR2):c.408T>C (p.His136=) rs2271305 0.00463
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_025152.3(NUBPL):c.77G>T (p.Gly26Val) rs77539990 0.00463
NM_014845.6(FIG4):c.66+10C>T rs200063827 0.00462
NM_182914.3(SYNE2):c.7162G>A (p.Glu2388Lys) rs200842904 0.00462
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_001035.3(RYR2):c.1863C>T (p.His621=) rs17686573 0.00461
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val) rs72650029 0.00461
NM_001367624.2(ZNF469):c.9125G>A (p.Arg3042His) rs150598363 0.00461
NM_003000.3(SDHB):c.24C>T (p.Ser8=) rs148738139 0.00461
NM_005529.7(HSPG2):c.1998+9C>T rs377228309 0.00461
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val) rs140374206 0.00461
NM_001048166.1(STIL):c.3786G>A (p.Thr1262=) rs146387723 0.00460
NM_001145809.2(MYH14):c.2792G>A (p.Arg931His) rs200351672 0.00460
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser) rs75639119 0.00460
NM_002693.3(POLG):c.3198G>A (p.Thr1066=) rs61752780 0.00460
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu) rs34563188 0.00460
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894 0.00459
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_001386795.1(DTNA):c.210G>A (p.Leu70=) rs117571555 0.00459
NM_001844.5(COL2A1):c.4327G>A (p.Gly1443Ser) rs78690642 0.00459
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) rs56086732 0.00458
NM_006269.2(RP1):c.616-6T>C rs186571865 0.00458
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140 0.00457
NM_004369.4(COL6A3):c.6592-27del rs60436236 0.00457
NM_000540.3(RYR1):c.11034+20G>T rs186460831 0.00456
NM_001257180.2(SLC20A2):c.1812C>T (p.Ala604=) rs116401889 0.00456
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) rs115166595 0.00455
NM_001039141.3(TRIOBP):c.391G>A (p.Gly131Ser) rs144634857 0.00455
NM_130839.5(UBE3A):c.2124+9T>C rs79328837 0.00454
NM_001193315.2(VIPAS39):c.1242G>A (p.Leu414=) rs45447095 0.00453
NM_018718.3(CEP41):c.208-5A>G rs11765434 0.00453
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) rs111033338 0.00452
NM_001110556.2(FLNA):c.663C>T (p.Pro221=) rs2073470 0.00452
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862 0.00451
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_001298.3(CNGA3):c.143C>T (p.Pro48Leu) rs62156348 0.00451
NM_002471.4(MYH6):c.1989C>T (p.Asn663=) rs28730774 0.00451
NM_006279.5(ST3GAL3):c.636C>T (p.Gly212=) rs12140044 0.00451
NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn) rs116826217 0.00451
NM_052989.3(IFT122):c.1273C>T (p.Arg425Trp) rs61744639 0.00451
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) rs142348718 0.00450
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) rs3027888 0.00450
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684 0.00449
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_031935.3(HMCN1):c.15011C>T (p.Thr5004Ile) rs114629728 0.00449
NM_194318.4(B3GLCT):c.1134C>T (p.Tyr378=) rs34854594 0.00449
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=) rs141338915 0.00448
NM_031935.3(HMCN1):c.15010A>T (p.Thr5004Ser) rs114364265 0.00448
NM_001360.3(DHCR7):c.1008C>T (p.His336=) rs75225632 0.00447
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385 0.00447
NM_001035.3(RYR2):c.14029C>T (p.Leu4677=) rs112864477 0.00446
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080 0.00446
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_000440.3(PDE6A):c.1086G>A (p.Ala362=) rs142259966 0.00445
NM_000492.4(CFTR):c.3718-2530A>G rs213990 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_016341.4(PLCE1):c.1729G>A (p.Ala577Thr) rs141639885 0.00444
NM_017534.6(MYH2):c.5780G>A (p.Arg1927Gln) rs34161789 0.00444
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00443
NM_138959.3(VANGL1):c.435T>C (p.Cys145=) rs34768472 0.00443
NM_198586.3(NHLRC1):c.303G>T (p.Pro101=) rs187783545 0.00443
NM_014000.3(VCL):c.1317T>C (p.Ser439=) rs71579355 0.00442
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676 0.00441
NM_001164508.2(NEB):c.12147G>A (p.Lys4049=) rs149639365 0.00441
NM_201384.3(PLEC):c.5165C>T (p.Thr1722Met) rs377665141 0.00440
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882 0.00439
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_201384.3(PLEC):c.854G>A (p.Arg285Gln) rs188076386 0.00439
NM_000493.4(COL10A1):c.150T>A (p.Ser50Arg) rs142411445 0.00438
NM_001384140.1(PCDH15):c.4671+1087C>T rs12359240 0.00438
NM_004369.4(COL6A3):c.4895G>A (p.Arg1632Gln) rs111231885 0.00438
NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser) rs112906840 0.00438
NM_007214.5(SEC63):c.340-12G>T rs2064201 0.00438
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser) rs61750615 0.00437
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys) rs62224222 0.00437
NM_012254.3(SLC27A5):c.1616T>C (p.Met539Thr) rs147464959 0.00437
NM_016239.4(MYO15A):c.1941A>C (p.Pro647=) rs537016494 0.00437
NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser) rs138628273 0.00437
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266 0.00436
NM_001170629.2(CHD8):c.27C>T (p.Phe9=) rs75191413 0.00436
NM_001457.4(FLNB):c.4872C>T (p.Ile1624=) rs147426569 0.00436
NM_002473.6(MYH9):c.1083C>T (p.Asp361=) rs56001030 0.00436
NM_000096.4(CP):c.2522C>G (p.Thr841Arg) rs56033670 0.00435
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949 0.00435
NM_001319074.4(RAX2):c.45T>G (p.Gly15=) rs139127905 0.00435
NM_002693.3(POLG):c.-80C>T rs3087378 0.00435
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00435
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545 0.00435
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988 0.00434
NM_005562.3(LAMC2):c.2754+9T>C rs113467864 0.00434
NM_194248.3(OTOF):c.2215-19C>G rs111033427 0.00434
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689 0.00433
NM_004369.4(COL6A3):c.1182C>T (p.Thr394=) rs114750216 0.00432
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln) rs138787771 0.00432
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=) rs182847302 0.00430
NM_000179.3(MSH6):c.1345C>T (p.Leu449=) rs3136333 0.00429
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His) rs35851478 0.00429
NM_002857.4(PEX19):c.771+3A>G rs141133579 0.00429
NM_032119.4(ADGRV1):c.5525-7C>T rs137853919 0.00429
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=) rs138259457 0.00428
NM_001377295.2(GNAT2):c.370G>A (p.Val124Met) rs41280330 0.00428
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886 0.00427
NM_006129.5(BMP1):c.1112G>A (p.Arg371His) rs145284541 0.00427
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_201384.3(PLEC):c.4366G>A (p.Val1456Met) rs186848953 0.00427
NM_001291415.2(KDM6A):c.3834T>C (p.His1278=) rs138989066 0.00426
NM_001848.3(COL6A1):c.1056C>T (p.Asp352=) rs116343553 0.00426
NM_015295.3(SMCHD1):c.1419A>G (p.Glu473=) rs117771893 0.00426
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_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys) rs146461956 0.00424
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481 0.00424
NM_031885.5(BBS2):c.805-20A>G rs41280892 0.00423
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met) rs191736346 0.00423
NM_181486.4(TBX5):c.787G>A (p.Val263Met) rs147405081 0.00423
NM_198525.3(KIF7):c.49C>T (p.Arg17Trp) rs141865394 0.00423
NM_000492.4(CFTR):c.-226G>T rs73717525 0.00422
NM_000540.3(RYR1):c.3972G>A (p.Ala1324=) rs200451188 0.00422
NM_000540.3(RYR1):c.5493G>T (p.Gly1831=) rs140004449 0.00422
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524 0.00422
NM_022773.4(LMF1):c.302G>C (p.Arg101Thr) rs147688306 0.00422
NM_153252.5(BRWD3):c.33G>A (p.Glu11=) rs139071237 0.00422
NM_001127671.2(LIFR):c.954C>T (p.Thr318=) rs61748202 0.00421
NM_201384.3(PLEC):c.9423C>T (p.Gly3141=) rs61529674 0.00421
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_002768.5(CHMP1A):c.27+10G>A rs140547967 0.00420
NM_015102.5(NPHP4):c.2293G>A (p.Val765Ile) rs149244006 0.00420
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_021072.4(HCN1):c.1797A>G (p.Ser599=) rs148932124 0.00419
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
NM_003036.4(SKI):c.1834C>T (p.Leu612=) rs35833638 0.00418
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=) rs78795178 0.00417
NM_001029883.3(PCARE):c.3789G>A (p.Leu1263=) rs199689791 0.00417
NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys) rs34324114 0.00417
NM_001367624.2(ZNF469):c.10795G>T (p.Ala3599Ser) rs199760004 0.00417
NM_022095.4(ZNF335):c.826G>A (p.Ala276Thr) rs117802609 0.00417
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023 0.00416
NM_000540.3(RYR1):c.8949T>C (p.Ser2983=) rs116537677 0.00415
NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=) rs75413741 0.00415
NM_012448.4(STAT5B):c.247C>T (p.Leu83=) rs146176992 0.00415
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn) rs143070183 0.00415
NM_000141.5(FGFR2):c.159G>A (p.Ala53=) rs1047102 0.00414
NM_000426.4(LAMA2):c.3556-15T>G rs17741922 0.00414
NM_000515.5(GH1):c.152T>A (p.Phe51Tyr) rs61735357 0.00414
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_001369.3(DNAH5):c.2253C>A (p.Asn751Lys) rs115004914 0.00414
NM_001458.5(FLNC):c.1902G>A (p.Glu634=) rs12536635 0.00414
NM_031448.6(C19orf12):c.69G>A (p.Ala23=) rs201118405 0.00414
NM_032119.4(ADGRV1):c.4254T>C (p.Tyr1418=) rs149459739 0.00414
NM_181332.3(NLGN4X):c.558C>T (p.Asp186=) rs145911431 0.00414
NM_206933.4(USH2A):c.6270A>G (p.Leu2090=) rs56245532 0.00414
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345 0.00412
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) rs61753725 0.00412
NM_000747.3(CHRNB1):c.342G>A (p.Val114=) rs75019736 0.00411
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_001384140.1(PCDH15):c.3502-8C>T rs184144118 0.00411
NM_020631.6(PLEKHG5):c.1254C>G (p.Pro418=) rs139904931 0.00411
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=) rs34990188 0.00411
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895 0.00411
NM_000163.5(GHR):c.535C>T (p.Arg179Cys) rs121909362 0.00410
NM_001128205.2(SULF1):c.1111A>G (p.Ile371Val) rs118056333 0.00410
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710 0.00410
NM_000540.3(RYR1):c.11941C>T (p.His3981Tyr) rs148772854 0.00409
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe) rs138886378 0.00409
NM_014249.4(NR2E3):c.245+8C>T rs9920371 0.00409
NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=) rs111033476 0.00408
NM_001379286.1(ZNF423):c.3291C>T (p.Tyr1097=) rs150027129 0.00408
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268 0.00408
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379 0.00408
NM_004006.3(DMD):c.7542+13A>G rs72466585 0.00407
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297 0.00407
NM_001457.4(FLNB):c.3090C>T (p.Tyr1030=) rs112968165 0.00406
NM_007254.4(PNKP):c.1032G>A (p.Arg344=) rs185452809 0.00406
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383 0.00405
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_000747.3(CHRNB1):c.1045-6C>G rs79209506 0.00404
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894 0.00404
NM_004840.3(ARHGEF6):c.362G>A (p.Arg121His) rs35106300 0.00404
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851 0.00404
NM_016013.4(NDUFAF1):c.-6T>G rs180730324 0.00404
NM_033100.4(CDHR1):c.1868A>G (p.Asn623Ser) rs137876961 0.00404
NM_201384.3(PLEC):c.5712C>T (p.Ser1904=) rs115735672 0.00404
NM_201384.3(PLEC):c.7074G>A (p.Ala2358=) rs146381488 0.00404
NM_201525.4(ADGRG1):c.844G>C (p.Gly282Arg) rs146704802 0.00404
NM_206933.4(USH2A):c.8937A>G (p.Val2979=) rs139100097 0.00404
NM_001367624.2(ZNF469):c.7675A>G (p.Lys2559Glu) rs146789160 0.00403
NM_005634.3(SOX3):c.157G>C (p.Val53Leu) rs200361128 0.00403
NM_201384.3(PLEC):c.3682C>T (p.Arg1228Trp) rs144610086 0.00403
NM_001199799.2(ILDR1):c.1581G>A (p.Gly527=) rs142243054 0.00402
NM_006662.3(SRCAP):c.5705A>G (p.Glu1902Gly) rs117480926 0.00402
NM_020184.4(CNNM4):c.399G>A (p.Val133=) rs34147094 0.00402
NM_000203.5(IDUA):c.1190-17_1190-16insA rs201559436 0.00401
NM_000433.4(NCF2):c.1360C>T (p.Pro454Ser) rs55761650 0.00401
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=) rs111033516 0.00401
NM_001848.3(COL6A1):c.1335+20G>C rs9306146 0.00401
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=) rs191649793 0.00401
NM_201384.3(PLEC):c.6757G>A (p.Ala2253Thr) rs62641756 0.00401
NM_001190417.2(ZNF674):c.692A>G (p.Lys231Arg) rs201621696 0.00400
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243 0.00400
NM_201384.3(PLEC):c.5304G>A (p.Leu1768=) rs186670912 0.00400
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00399
NM_001035.3(RYR2):c.7038A>C (p.Ala2346=) rs116601686 0.00399
NM_004595.5(SMS):c.1026A>C (p.Ser342=) rs61732077 0.00399
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249 0.00399
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) rs55980069 0.00399
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_000515.5(GH1):c.150C>A (p.Ala50=) rs61735359 0.00398
NM_001376256.1(CRYM):c.807T>C (p.Phe269=) rs144588424 0.00398
NM_004360.5(CDH1):c.532-18C>T rs200673941 0.00398
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867 0.00398
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555 0.00397
NM_145167.3(PIGM):c.6C>T (p.Gly2=) rs61757715 0.00397
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_004369.4(COL6A3):c.1231C>G (p.Leu411Val) rs113716915 0.00396
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513 0.00396
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys) rs139367209 0.00396
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988 0.00396
NM_001177316.2(SLC34A3):c.273C>T (p.Asp91=) rs145677050 0.00395
NM_001701.4(BAAT):c.951G>A (p.Gln317=) rs61756326 0.00395
NM_006158.5(NEFL):c.1275C>T (p.Gly425=) rs114329068 0.00395
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=) rs140861713 0.00395
NM_003482.4(KMT2D):c.8064G>A (p.Glu2688=) rs148457961 0.00394
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=) rs35225609 0.00394
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro) rs147452898 0.00394
NM_018136.5(ASPM):c.7554A>G (p.Arg2518=) rs140248383 0.00393
NM_001032386.2(SUOX):c.1358G>A (p.Gly453Asp) rs76537761 0.00392
NM_004369.4(COL6A3):c.4285+17G>A rs3791000 0.00392
NM_004369.4(COL6A3):c.4683G>A (p.Gln1561=) rs113074898 0.00392
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072 0.00392
NM_001551.3(IGBP1):c.608T>C (p.Ile203Thr) rs61755732 0.00391
NM_012418.4(FSCN2):c.150C>G (p.Pro50=) rs184519759 0.00391
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys) rs45608240 0.00391
NM_020549.5(CHAT):c.1372C>T (p.Leu458Phe) rs76014951 0.00391
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp) rs201586455 0.00391
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_004260.4(RECQL4):c.3133G>A (p.Ala1045Thr) rs35348691 0.00390
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_001079668.3(NKX2-1):c.1093G>T (p.Ala365Ser) rs147542347 0.00389
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg) rs187695569 0.00389
NM_001853.4(COL9A3):c.410T>C (p.Leu137Pro) rs147947060 0.00389
NM_002335.4(LRP5):c.4000+9C>T rs148685646 0.00389
NM_004369.4(COL6A3):c.2030G>A (p.Arg677His) rs35227432 0.00389
NM_006005.3(WFS1):c.917T>C (p.Met306Thr) rs146114074 0.00389
NM_006208.3(ENPP1):c.313+10del rs778260177 0.00389
NM_006348.5(COG5):c.1247A>G (p.Tyr416Cys) rs41276187 0.00389
NM_031885.5(BBS2):c.1110T>C (p.Ala370=) rs148990271 0.00389
NM_173630.4(RTTN):c.4889G>C (p.Arg1630Thr) rs182595458 0.00389
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902 0.00388
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val) rs34315917 0.00388
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129 0.00388
NM_004369.4(COL6A3):c.8572G>A (p.Val2858Ile) rs111859552 0.00388
NM_006899.5(IDH3B):c.117+6C>A rs191680997 0.00388
NM_182961.4(SYNE1):c.1983C>T (p.Asn661=) rs149670417 0.00388
NM_002546.4(TNFRSF11B):c.885T>A (p.Leu295=) rs11573942 0.00387
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185 0.00386
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) rs201531206 0.00386
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074 0.00385
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_181332.3(NLGN4X):c.2280C>T (p.Tyr760=) rs75350246 0.00384
NM_000052.7(ATP7A):c.4226+11T>C rs200009243 0.00383
NM_000550.3(TYRP1):c.977G>A (p.Arg326His) rs16929374 0.00383
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=) rs41288017 0.00383
NM_001379110.1(SLC9A6):c.-57+50G>T rs201523857 0.00383
NM_003392.7(WNT5A):c.588C>T (p.Phe196=) rs200868061 0.00383
NM_001004334.4(GPR179):c.3847C>T (p.Pro1283Ser) rs150125328 0.00382
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr) rs77357563 0.00382
NM_006790.3(MYOT):c.1008G>T (p.Val336=) rs142828368 0.00381
NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=) rs190981860 0.00381
NM_182961.4(SYNE1):c.1794A>C (p.Ser598=) rs141424852 0.00381
NM_001194998.2(CEP152):c.4094-9A>T rs80090788 0.00380
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921 0.00380
NM_000057.4(BLM):c.1722A>G (p.Leu574=) rs28385011 0.00379
NM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala) rs199646135 0.00379
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764 0.00379
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601 0.00379
NM_014008.5(CCDC22):c.1163G>A (p.Arg388His) rs113045747 0.00379
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=) rs376497158 0.00379
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350 0.00379
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) rs116099212 0.00379
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000441.2(SLC26A4):c.565G>T (p.Ala189Ser) rs35045430 0.00378
NM_000875.5(IGF1R):c.1950G>T (p.Arg650=) rs56294552 0.00378
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
NM_001286445.3(RIPOR2):c.1764T>C (p.Asn588=) rs145837095 0.00378
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His) rs41304892 0.00378
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394 0.00378
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000631.5(NCF4):c.254C>A (p.Thr85Asn) rs112306225 0.00377
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272 0.00377
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_001364905.1(LRBA):c.2526T>C (p.Phe842=) rs139428189 0.00376
NM_012188.5(FOXI1):c.677C>T (p.Thr226Ile) rs115399307 0.00376
NM_024809.5(TCTN2):c.810C>T (p.Asp270=) rs144567556 0.00376
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=) rs147268650 0.00376
NM_000327.4(ROM1):c.686G>A (p.Arg229His) rs150168119 0.00375
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000492.4(CFTR):c.-812T>G rs181008242 0.00375
NM_003835.4(RGS9):c.495G>A (p.Gln165=) rs147874330 0.00375
NM_017534.6(MYH2):c.4989G>A (p.Leu1663=) rs61736461 0.00375
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282 0.00375
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067 0.00375
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile) rs2723669 0.00374
NM_000843.4(GRM6):c.504+20G>C rs572890701 0.00374
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) rs148197254 0.00374
NM_201384.3(PLEC):c.6513G>A (p.Lys2171=) rs184102912 0.00374
NM_001194998.2(CEP152):c.3325G>C (p.Ala1109Pro) rs115832709 0.00373
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp) rs201472270 0.00373
NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln) rs78889849 0.00373
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388 0.00372
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230 0.00372
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=) rs45586138 0.00372
NM_001201543.2(FAM161A):c.197C>T (p.Thr66Ile) rs145199539 0.00372
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116 0.00372
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498 0.00372
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg) rs148999583 0.00372
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn) rs199839743 0.00372
NM_000147.5(FUCA1):c.402G>C (p.Leu134Phe) rs143691289 0.00371
NM_000271.5(NPC1):c.1947+14_1947+15insC rs201170241 0.00371
NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg) rs141756032 0.00371
NM_000543.5(SMPD1):c.99G>A (p.Met33Ile) rs142178073 0.00371
NM_001029883.3(PCARE):c.3447G>A (p.Pro1149=) rs200278694 0.00371
NM_001206979.2(NR1H4):c.518T>C (p.Met173Thr) rs61755050 0.00371
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464 0.00371
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) rs45517932 0.00371
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399 0.00370
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr) rs201593811 0.00370
NM_024915.4(GRHL2):c.1098+9C>T rs189993760 0.00370
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) rs143037290 0.00369
NM_003896.4(ST3GAL5):c.648C>T (p.Phe216=) rs149309844 0.00369
NM_014014.5(SNRNP200):c.1159A>G (p.Met387Val) rs142729495 0.00369
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn) rs149202379 0.00369
NM_001015880.2(PAPSS2):c.375C>T (p.Phe125=) rs145230931 0.00368
NM_022124.6(CDH23):c.6596T>A (p.Ile2199Asn) rs111033494 0.00368
NM_005122.5(NR1I3):c.930G>A (p.Ala310=) rs36017137 0.00367
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_004064.5(CDKN1B):c.426G>A (p.Thr142=) rs149775942 0.00366
NM_014336.5(AIPL1):c.267C>T (p.Cys89=) rs62653020 0.00366
NM_017950.4(CCDC40):c.3424T>C (p.Ser1142Pro) rs148900528 0.00366
NM_147127.5(EVC2):c.2047-9A>T rs73198154 0.00366
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155 0.00366
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=) rs55940366 0.00365
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111 0.00365
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys) rs145595957 0.00365
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613 0.00365
NM_001005361.3(DNM2):c.2543+7C>G rs201979143 0.00364
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325 0.00364
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_004656.4(BAP1):c.1729+8T>C rs150945583 0.00364
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu) rs79572315 0.00364
NM_198999.3(SLC26A5):c.1335T>C (p.Ile445=) rs142639517 0.00364
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744 0.00363
NM_001164508.2(NEB):c.1413C>T (p.Phe471=) rs112958786 0.00363
NM_001453.3(FOXC1):c.502C>T (p.Leu168=) rs148739656 0.00363
NM_001999.4(FBN2):c.6511+5G>A rs200608284 0.00363
NM_002892.4(ARID4A):c.3211+1G>A rs62621193 0.00363
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679 0.00362
NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn) rs9282671 0.00362
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473 0.00362
NM_021072.4(HCN1):c.140G>T (p.Gly47Val) rs544994462 0.00362
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208 0.00361
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg) rs2229860 0.00361
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_001457.4(FLNB):c.2382C>T (p.Asp794=) rs146159035 0.00360
NM_006059.4(LAMC3):c.4092C>T (p.Ser1364=) rs141724499 0.00360
NM_000138.5(FBN1):c.3082+8del rs193922196 0.00359
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471 0.00359
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923 0.00359
NM_001010892.3(RSPH4A):c.144G>A (p.Gly48=) rs112350099 0.00359
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_003238.6(TGFB2):c.1239C>T (p.Cys413=) rs141225367 0.00359
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_003977.4(AIP):c.100-18C>T rs202156895 0.00359
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382 0.00359
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909 0.00359
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala) rs141464488 0.00359
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229 0.00358
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820 0.00358
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070 0.00358
NM_001376.5(DYNC1H1):c.4533G>A (p.Pro1511=) rs150900416 0.00357
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310 0.00357
NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu) rs34491822 0.00357
NM_005529.7(HSPG2):c.1082C>A (p.Thr361Asn) rs75467696 0.00357
NM_147127.5(EVC2):c.2601C>T (p.Ala867=) rs116514447 0.00357
NM_147127.5(EVC2):c.707-4G>A rs113806963 0.00357
NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944 0.00356
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843 0.00356
NM_000548.5(TSC2):c.2545+26G>A rs45517242 0.00356
NM_004006.3(DMD):c.3406A>T (p.Thr1136Ser) rs3827462 0.00356
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004 0.00356
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg) rs148509395 0.00356
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_000059.4(BRCA2):c.2786T>C (p.Leu929Ser) rs2227943 0.00355
NM_000392.5(ABCC2):c.1483A>G (p.Lys495Glu) rs17222561 0.00355
NM_006486.3(FBLN1):c.1441+9G>A rs142798380 0.00355
NM_201596.3(CACNB2):c.873G>A (p.Leu291=) rs138423466 0.00355
NM_000101.4(CYBA):c.179A>C (p.Lys60Thr) rs11547387 0.00354
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser) rs34302553 0.00354
NM_000540.3(RYR1):c.4071C>T (p.Pro1357=) rs375709463 0.00354
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=) rs115631125 0.00354
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp) rs72648964 0.00354
NM_001379180.1(ESRRB):c.*1474T>C rs188462546 0.00354
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719 0.00354
NM_017668.3(NDE1):c.486C>T (p.Leu162=) rs140251634 0.00354
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172 0.00354
NM_133433.4(NIPBL):c.6109-3T>C rs145778995 0.00354
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777 0.00354
NM_004260.4(RECQL4):c.543G>A (p.Gln181=) rs34159914 0.00353
NM_004369.4(COL6A3):c.3087C>T (p.Asp1029=) rs113066678 0.00353
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826 0.00353
NM_007254.4(PNKP):c.783G>A (p.Pro261=) rs145307985 0.00353
NM_019066.5(MAGEL2):c.1286C>T (p.Pro429Leu) rs2233061 0.00353
NM_000195.5(HPS1):c.*12C>T rs112544050 0.00352
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser) rs34084984 0.00352
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val) rs41313697 0.00352
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) rs144372453 0.00352
NM_001845.6(COL4A1):c.3776C>G (p.Pro1259Arg) rs146329532 0.00352
NM_005477.3(HCN4):c.2657C>T (p.Ala886Val) rs200575377 0.00352
NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala) rs9282543 0.00352
NM_000414.4(HSD17B4):c.666C>G (p.Val222=) rs150677536 0.00351
NM_000540.3(RYR1):c.3042G>A (p.Ala1014=) rs2228074 0.00351
NM_020822.3(KCNT1):c.2376C>T (p.Asp792=) rs149028586 0.00351
NM_000208.4(INSR):c.2193G>A (p.Thr731=) rs6413501 0.00350
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237 0.00350
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_012186.3(FOXE3):c.898A>G (p.Ser300Gly) rs552420470 0.00350
NM_021939.4(FKBP10):c.504C>T (p.Pro168=) rs113640022 0.00350
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=) rs147258619 0.00349
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met) rs115784602 0.00349
NM_001130987.2(DYSF):c.2817G>A (p.Ser939=) rs148902254 0.00349
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser) rs17027133 0.00349
NM_001848.3(COL6A1):c.2742C>T (p.Thr914=) rs115163637 0.00349
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161 0.00349
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175 0.00348
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468 0.00348
NM_001164508.2(NEB):c.5102T>C (p.Val1701Ala) rs117271684 0.00348
NM_001195263.2(PDZD7):c.572T>A (p.Val191Glu) rs118098246 0.00348
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858 0.00348
NM_000048.4(ASL):c.556C>A (p.Arg186=) rs111407265 0.00347
NM_000501.4(ELN):c.892G>A (p.Val298Ile) rs41526244 0.00347
NM_000540.3(RYR1):c.10941C>G (p.His3647Gln) rs114351116 0.00347
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_001849.4(COL6A2):c.2136C>T (p.Asp712=) rs114554195 0.00347
NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys) rs144983062 0.00347
NM_002693.3(POLG):c.1126C>T (p.Leu376=) rs116165908 0.00347
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_005529.7(HSPG2):c.11294G>A (p.Ser3765Asn) rs114223739 0.00347
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser) rs149073355 0.00347
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991 0.00346
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00346
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613 0.00346
NM_001164508.2(NEB):c.3412A>G (p.Asn1138Asp) rs117048449 0.00346
NM_182961.4(SYNE1):c.11485A>G (p.Thr3829Ala) rs115786671 0.00346
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu) rs41308435 0.00346
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152 0.00345
NM_000330.4(RS1):c.184+3199G>A rs36022183 0.00345
NM_000666.3(ACY1):c.1178G>A (p.Arg393His) rs121912701 0.00345
NM_002618.4(PEX13):c.-6G>C rs147461642 0.00345
NM_014208.3(DSPP):c.1060C>T (p.Arg354Cys) rs61731011 0.00345
NM_025009.5(CEP135):c.2990C>T (p.Ser997Leu) rs146076380 0.00345
NM_080680.3(COL11A2):c.2520G>A (p.Arg840=) rs117237998 0.00345
NM_000261.2(MYOC):c.855G>T (p.Thr285=) rs146606638 0.00344
NM_000426.4(LAMA2):c.8982T>C (p.Asp2994=) rs79374915 0.00344
NM_003816.3(ADAM9):c.226G>A (p.Glu76Lys) rs61753672 0.00344
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=) rs146172074 0.00344
NM_020366.4(RPGRIP1):c.1767G>T (p.Gln589His) rs34067949 0.00344
NM_025074.7(FRAS1):c.5046C>G (p.Asp1682Glu) rs35219594 0.00344
NM_031433.4(MFRP):c.629G>T (p.Gly210Val) rs150902999 0.00344
NM_182943.3(PLOD2):c.652A>G (p.Ile218Val) rs145809663 0.00344
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=) rs56151652 0.00343
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116 0.00343
NM_001849.4(COL6A2):c.510C>T (p.Cys170=) rs142328765 0.00343
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972 0.00343
CYP2C9*5 rs28371686 0.00342
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00342
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_001130987.2(DYSF):c.1145C>T (p.Ala382Val) rs115279465 0.00342
NM_001165967.2(HES7):c.591C>T (p.Pro197=) rs558811781 0.00342
NM_178452.6(DNAAF1):c.1227T>G (p.Gly409=) rs148674729 0.00342
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_001793.6(CDH3):c.805A>C (p.Met269Leu) rs36038900 0.00341
NM_001849.4(COL6A2):c.1116+22C>T rs111592472 0.00341
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538 0.00341
NM_022089.4(ATP13A2):c.2724G>A (p.Ser908=) rs79724242 0.00341
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) rs55717455 0.00341
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly) rs113593896 0.00341
NM_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165 0.00341
NM_194248.3(OTOF):c.2215-77T>G rs76130130 0.00341
NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys) rs5743277 0.00340
NM_012254.3(SLC27A5):c.641C>T (p.Ala214Val) rs113904799 0.00340
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=) rs56356283 0.00340
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674 0.00340
NM_000243.3(MEFV):c.333G>A (p.Gly111=) rs61732425 0.00339
NM_000426.4(LAMA2):c.6150T>C (p.Asp2050=) rs114766691 0.00339
NM_002241.5(KCNJ10):c.1092A>G (p.Gln364=) rs145588542 0.00339
NM_004369.4(COL6A3):c.8346G>A (p.Glu2782=) rs35911211 0.00339
NM_006059.4(LAMC3):c.2891-8C>T rs199535979 0.00339
NM_024757.5(EHMT1):c.1743C>T (p.Arg581=) rs144513373 0.00339
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508 0.00338
NM_001374385.1(ATP8B1):c.246A>G (p.Thr82=) rs34623939 0.00337
NM_001378120.1(MBD5):c.1638C>T (p.Ala546=) rs116413446 0.00337
NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter) rs116131367 0.00337
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) rs139600783 0.00337
NM_031433.4(MFRP):c.641+9C>T rs189840088 0.00337
NM_031935.3(HMCN1):c.114G>T (p.Gly38=) rs115169621 0.00337
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=) rs111033228 0.00336
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=) rs116204385 0.00336
NM_001146079.2(CLDN14):c.*10G>C rs139628442 0.00336
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767 0.00336
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr) rs56165709 0.00336
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00335
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) rs121909046 0.00335
NM_021116.4(ADCY1):c.2327+6T>A rs75860455 0.00335
NM_175875.5(SIX5):c.732G>A (p.Gln244=) rs141944211 0.00335
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=) rs118126378 0.00334
NM_001012720.2(RGR):c.744+5A>G rs143720091 0.00334
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992 0.00334
NM_001267550.2(TTN):c.10114+5G>A rs115985443 0.00334
NM_001367624.2(ZNF469):c.2841G>A (p.Arg947=) rs150435442 0.00334
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp) rs115776799 0.00334
NM_014008.5(CCDC22):c.536-7C>T rs191605685 0.00334
NM_024596.5(MCPH1):c.989A>G (p.Tyr330Cys) rs115088000 0.00334
NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys) rs141477666 0.00334
NM_001035.3(RYR2):c.13740G>A (p.Thr4580=) rs115854664 0.00333
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193 0.00333
NM_001164508.2(NEB):c.3636C>T (p.Asp1212=) rs144376972 0.00333
NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln) rs151078549 0.00333
NM_018136.5(ASPM):c.6775T>C (p.Leu2259=) rs140922974 0.00333
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698 0.00332
NM_001077365.2(POMT1):c.1585-14C>T rs78529026 0.00332
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr) rs72648923 0.00332
NM_006412.4(AGPAT2):c.716C>T (p.Ala239Val) rs145975461 0.00332
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787 0.00332
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_000245.4(MET):c.-14-4G>A rs144126521 0.00331
NM_012254.3(SLC27A5):c.1160G>A (p.Arg387Gln) rs142672241 0.00331
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu) rs140848350 0.00331
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) rs55857552 0.00330
NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=) rs148104020 0.00330
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly) rs187947581 0.00330
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) rs77351928 0.00330
NM_201384.3(PLEC):c.7880C>G (p.Pro2627Arg) rs184879368 0.00330
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 0.00329
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026 0.00329
NM_000493.4(COL10A1):c.23T>G (p.Leu8Trp) rs34539681 0.00329
NM_000900.5(MGP):c.157A>G (p.Lys53Glu) rs1801716 0.00329
NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr) rs148193087 0.00329
NM_020987.5(ANK3):c.10055A>G (p.Glu3352Gly) rs61845768 0.00329
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_054027.6(ANKH):c.560G>A (p.Arg187Gln) rs146886108 0.00329
NM_201384.3(PLEC):c.8445T>C (p.Val2815=) rs371421350 0.00329
NM_000142.5(FGFR3):c.1014C>T (p.Thr338=) rs4647928 0.00328
NM_001374385.1(ATP8B1):c.2442G>T (p.Lys814Asn) rs34018300 0.00328
NM_001378414.1(HDAC4):c.958G>A (p.Val320Ile) rs73000144 0.00328
NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile) rs143898031 0.00328
NM_022350.5(ERAP2):c.1232T>G (p.Leu411Arg) rs34261036 0.00328
NM_024596.5(MCPH1):c.477A>T (p.Ser159=) rs41313948 0.00328
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=) rs192003811 0.00327
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187 0.00327
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys) rs34102501 0.00327
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser) rs144692954 0.00327
NM_004817.4(TJP2):c.2992-8C>T rs143965233 0.00327
NM_206933.4(USH2A):c.15297+3A>G rs57754754 0.00327
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=) rs72647886 0.00326
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) rs143669458 0.00326
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_016239.4(MYO15A):c.1385G>A (p.Gly462Asp) rs145292219 0.00326
NM_201384.3(PLEC):c.10759C>T (p.Leu3587=) rs200006106 0.00326
NM_201384.3(PLEC):c.5476C>T (p.Arg1826Trp) rs200575795 0.00326
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=) rs140781855 0.00325
NM_000540.3(RYR1):c.8827G>A (p.Asp2943Asn) rs79294840 0.00325
NM_001032221.6(STXBP1):c.247-8A>G rs199827018 0.00325
NM_001374353.1(GLI2):c.2037A>G (p.Ala679=) rs146059306 0.00325
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363 0.00325
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=) rs151080601 0.00325
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln) rs114764023 0.00325
NM_207361.6(FREM2):c.8460C>G (p.Ala2820=) rs138775857 0.00325
NM_000153.4(GALC):c.96G>T (p.Leu32=) rs113719127 0.00324
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269 0.00324
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg) rs181769913 0.00324
NM_001164508.2(NEB):c.1675-9T>G rs75118047 0.00324
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841 0.00324
NM_014244.5(ADAMTS2):c.2751-4G>A rs112155474 0.00324
NM_024884.3(L2HGDH):c.6G>T (p.Val2=) rs113626637 0.00324
NM_032119.4(ADGRV1):c.18746T>G (p.Leu6249Arg) rs41311625 0.00324
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro) rs57479434 0.00323
NM_001048166.1(STIL):c.1055G>A (p.Arg352His) rs141678367 0.00323
NM_001130969.3(NSMF):c.1467C>T (p.Phe489=) rs139341268 0.00323
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) rs78540316 0.00323
NM_015909.4(NBAS):c.3217C>T (p.Arg1073Cys) rs147322367 0.00323
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_020822.3(KCNT1):c.99A>G (p.Gln33=) rs146152956 0.00323
NM_001134407.3(GRIN2A):c.662A>G (p.Lys221Arg) rs61731464 0.00322
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=) rs114137271 0.00322
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val) rs72646891 0.00322
NM_001457.4(FLNB):c.3264C>T (p.Ser1088=) rs112864468 0.00322
NM_001701.4(BAAT):c.409G>A (p.Val137Ile) rs144591246 0.00322
NM_003839.4(TNFRSF11A):c.570C>T (p.Ser190=) rs12721430 0.00322
NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile) rs55662069 0.00322
NM_006017.3(PROM1):c.1497C>T (p.Ile499=) rs113895168 0.00322
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747 0.00322
NM_001017420.3(ESCO2):c.1647T>C (p.Ile549=) rs73568217 0.00321
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=) rs144679294 0.00321
NM_001369268.1(ACAN):c.186C>T (p.Thr62=) rs191648646 0.00321
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=) rs111866498 0.00321
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr) rs193257576 0.00321
NM_000070.3(CAPN3):c.1746-20C>G rs201892814 0.00320
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756 0.00320
NM_001177316.2(SLC34A3):c.1140C>T (p.Leu380=) rs113568956 0.00320
NM_001365951.3(KIF1B):c.2115+7031T>C rs149267056 0.00320
NM_004380.3(CREBBP):c.333C>T (p.Asn111=) rs150229705 0.00320
NM_021939.4(FKBP10):c.1307T>C (p.Ile436Thr) rs61749879 0.00320
NM_213599.3(ANO5):c.680G>C (p.Gly227Ala) rs140903276 0.00320
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000540.3(RYR1):c.2415T>C (p.Pro805=) rs141881325 0.00319
NM_024596.5(MCPH1):c.1781C>T (p.Thr594Met) rs115033462 0.00319
NM_147127.5(EVC2):c.1471-7T>C rs150842594 0.00319
NM_182914.3(SYNE2):c.11379T>C (p.Leu3793=) rs149391344 0.00319
NM_000310.4(PPT1):c.363-4G>A rs117284255 0.00318
NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe) rs111033436 0.00318
NM_004333.6(BRAF):c.1227A>G (p.Ser409=) rs145035762 0.00318
NM_006514.4(SCN10A):c.5657C>T (p.Ala1886Val) rs142653846 0.00318
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134 0.00318
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804 0.00317
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro) rs72650032 0.00317
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754 0.00317
NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr) rs199568537 0.00317
NM_004281.4(BAG3):c.181-9T>A rs139232658 0.00317
NM_017534.6(MYH2):c.2295G>A (p.Gly765=) rs79757188 0.00317
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_144508.5(KNL1):c.1129A>G (p.Ile377Val) rs144726295 0.00317
NM_203486.3(DLL3):c.1307G>A (p.Arg436His) rs199831437 0.00317
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile) rs141624266 0.00316
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00316
NM_002693.3(POLG):c.134A>G (p.Gln45Arg) rs201016638 0.00316
NM_002968.3(SALL1):c.472A>G (p.Ser158Gly) rs139646526 0.00316
NM_004369.4(COL6A3):c.7162+48G>A rs112563876 0.00316
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=) rs137853918 0.00316
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612 0.00315
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688 0.00315
NM_001029883.3(PCARE):c.3178C>A (p.Pro1060Thr) rs72861054 0.00315
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) rs111558968 0.00315
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His) rs75120695 0.00315
NM_001851.6(COL9A1):c.1288-4T>A rs142431834 0.00315
NM_004385.5(VCAN):c.4604A>G (p.Glu1535Gly) rs61749614 0.00315
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met) rs73003348 0.00315
NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys) rs115954396 0.00315
NM_172364.5(CACNA2D4):c.3310-8G>A rs186998620 0.00315
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912 0.00314
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe) rs145403829 0.00314
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg) rs115545935 0.00314
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln) rs76646638 0.00314
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) rs143873938 0.00313
NM_001848.3(COL6A1):c.1518T>C (p.Gly506=) rs35134265 0.00313
NM_002979.5(SCP2):c.675-6T>C rs115815213 0.00313
NM_004260.4(RECQL4):c.3337G>C (p.Gly1113Arg) rs35101495 0.00313
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met) rs143543800 0.00313
NM_025074.7(FRAS1):c.806G>A (p.Arg269Gln) rs202231425 0.00313
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=) rs76794400 0.00313
NM_000093.5(COL5A1):c.573C>T (p.Leu191=) rs116715381 0.00312
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263 0.00312
NM_000539.3(RHO):c.360C>T (p.Gly120=) rs79765751 0.00312
NM_000540.3(RYR1):c.9685+16C>T rs45496799 0.00312
NM_000875.5(IGF1R):c.225C>T (p.Phe75=) rs55770488 0.00312
NM_001042432.2(CLN3):c.313A>G (p.Ile105Val) rs11552531 0.00312
NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys) rs143766955 0.00312
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598 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_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_001114753.3(ENG):c.1510G>A (p.Val504Met) rs116330805 0.00311
NM_003383.5(VLDLR):c.464G>C (p.Ser155Thr) rs34080096 0.00311
NM_006790.3(MYOT):c.1190+7T>C rs192405601 0.00311
NM_000036.3(AMPD1):c.99A>G (p.Gly33=) rs61752480 0.00310
NM_000553.6(WRN):c.95A>G (p.Lys32Arg) rs34477820 0.00310
NM_001032221.6(STXBP1):c.325+8C>T rs117372398 0.00310
NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val) rs111294536 0.00310
NM_001267550.2(TTN):c.30231A>G (p.Pro10077=) rs74324101 0.00310
NM_001277313.2(FMN1):c.2583A>G (p.Ala861=) rs61740952 0.00310
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu) rs144486524 0.00310
NM_001848.3(COL6A1):c.1182+3G>A rs62215499 0.00310
NM_004560.4(ROR2):c.937+10C>T rs201083970 0.00310
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_032634.4(PIGO):c.2268G>A (p.Ala756=) rs149171782 0.00310
NM_000371.4(TTR):c.336+19G>A rs75517067 0.00309
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968 0.00309
NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu) rs139266382 0.00309
NM_002471.4(MYH6):c.1071C>T (p.Ile357=) rs58131640 0.00309
NM_006493.4(CLN5):c.-87C>T rs200353554 0.00309
NM_017950.4(CCDC40):c.3408C>T (p.Leu1136=) rs186591691 0.00309
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134 0.00309
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847 0.00308
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp) rs146709251 0.00308
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_001267550.2(TTN):c.32750C>T (p.Pro10917Leu) rs73973137 0.00308
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=) rs72657304 0.00308
NM_001297.5(CNGB1):c.1479G>A (p.Pro493=) rs1052029 0.00308
NM_001297.5(CNGB1):c.1626C>T (p.Thr542=) rs148735841 0.00308
NM_001384474.1(LOXHD1):c.6741C>T (p.Ala2247=) rs189873733 0.00308
NM_205861.3(DHDDS):c.324-10C>T rs144459149 0.00308
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740 0.00307
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=) rs150425546 0.00307
NM_002334.4(LRP4):c.1551T>C (p.Ala517=) rs150777198 0.00307
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_004006.3(DMD):c.802T>C (p.Leu268=) rs1800264 0.00307
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380 0.00307
NM_005562.3(LAMC2):c.880C>T (p.Leu294=) rs144572936 0.00307
NM_019032.6(ADAMTSL4):c.2969C>T (p.Thr990Met) rs139784416 0.00307
NM_181741.4(ORC4):c.857C>T (p.Ala286Val) rs75002266 0.00307
NM_198525.3(KIF7):c.1429G>A (p.Ala477Thr) rs527804875 0.00307
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879 0.00306
NM_000426.4(LAMA2):c.4935C>A (p.Thr1645=) rs35579821 0.00306
NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln) rs539194350 0.00306
NM_001127671.2(LIFR):c.2498-7G>A rs113078097 0.00306
NM_001177316.2(SLC34A3):c.1512C>T (p.Phe504=) rs146854507 0.00306
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met) rs61731477 0.00306
NM_001853.4(COL9A3):c.1427C>G (p.Pro476Arg) rs142066316 0.00306
NM_004369.4(COL6A3):c.3191G>A (p.Arg1064Gln) rs112638391 0.00306
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675 0.00306
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
NM_207352.4(CYP4V2):c.1328G>A (p.Arg443Gln) rs72646291 0.00306
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser) rs2229194 0.00305
NM_001384140.1(PCDH15):c.3717+8G>C rs200556301 0.00305
NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His) rs112062179 0.00305
NM_025114.4(CEP290):c.6960+10G>A rs75011402 0.00305
NM_001039141.3(TRIOBP):c.2105A>G (p.Gln702Arg) rs202079450 0.00304
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_001111.5(ADAR):c.2553C>T (p.Cys851=) rs138927668 0.00304
NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp) rs190664764 0.00304
NM_005529.7(HSPG2):c.3336C>T (p.Pro1112=) rs2228348 0.00304
NM_006343.3(MERTK):c.2851G>A (p.Ala951Thr) rs148261231 0.00304
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028 0.00303
NM_000260.4(MYO7A):c.5324T>C (p.Ile1775Thr) rs115123584 0.00303
NM_000397.4(CYBB):c.654C>A (p.Gly218=) rs35080474 0.00303
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280 0.00303
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln) rs188101277 0.00303
NM_004484.4(GPC3):c.1167-8T>C rs182950534 0.00303
NM_015295.3(SMCHD1):c.4808C>T (p.Thr1603Ile) rs147034750 0.00303
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) rs142813109 0.00303
NM_000035.4(ALDOB):c.156T>G (p.Thr52=) rs149671008 0.00302
NM_000235.4(LIPA):c.1113A>G (p.Glu371=) rs116827211 0.00302
NM_001371596.2(MFSD8):c.1041A>G (p.Val347=) rs148291156 0.00302
NM_001918.5(DBT):c.76T>C (p.Cys26Arg) rs145674833 0.00302
NM_004385.5(VCAN):c.5187G>A (p.Glu1729=) rs35648048 0.00302
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His) rs34295241 0.00302
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=) rs141743294 0.00302
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_001267550.2(TTN):c.30426C>T (p.Asp10142=) rs147524531 0.00301
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925 0.00301
NM_005591.4(MRE11):c.771A>G (p.Glu257=) rs13447632 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_000101.4(CYBA):c.403G>A (p.Glu135Lys) rs114610092 0.00300
NM_000515.5(GH1):c.363T>A (p.Ser121Arg) rs137882374 0.00300
NM_001039213.4(CEACAM16):c.738G>A (p.Thr246=) rs199779296 0.00300
NM_001110219.3(GJB6):c.489G>A (p.Leu163=) rs35002004 0.00300
NM_005045.4(RELN):c.5923G>A (p.Gly1975Ser) rs114807343 0.00300
NM_020361.5(CPA6):c.809C>T (p.Ala270Val) rs114402678 0.00300
NM_001101426.4(CRPPA):c.67G>T (p.Gly23Cys) rs187484645 0.00299
NM_001130823.3(DNMT1):c.891+8C>T rs117294281 0.00299
NM_001277115.2(DNAH11):c.9468T>C (p.Asp3156=) rs201207627 0.00299
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024 0.00299
NM_001848.3(COL6A1):c.2067-10T>C rs200727020 0.00299
NM_001849.4(COL6A2):c.499G>A (p.Gly167Ser) rs115957676 0.00299
NM_014908.4(DOLK):c.186G>A (p.Arg62=) rs148171062 0.00299
NM_020361.5(CPA6):c.975A>G (p.Ala325=) rs138313759 0.00299
NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val) rs142013761 0.00299
NM_032119.4(ADGRV1):c.8133C>T (p.Ser2711=) rs116446814 0.00299
NM_000141.5(FGFR2):c.1572A>G (p.Thr524=) rs74160613 0.00298
NM_000144.5(FXN):c.626A>G (p.Asp209Gly) rs74621026 0.00298
NM_000426.4(LAMA2):c.675C>T (p.Ala225=) rs139665175 0.00298
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245 0.00298
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) rs112337765 0.00297
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_000548.5(TSC2):c.228C>T (p.His76=) rs45517097 0.00297
NM_001378454.1(ALMS1):c.10464A>G (p.Val3488=) rs28730858 0.00297
NM_001458.5(FLNC):c.1425C>T (p.Asn475=) rs143610360 0.00297
NM_001458.5(FLNC):c.2078A>C (p.Asp693Ala) rs34972246 0.00297
NM_002900.3(RBP3):c.1631G>A (p.Arg544His) rs41284962 0.00297
NM_003193.5(TBCE):c.214C>T (p.Pro72Ser) rs62620041 0.00297
NM_003482.4(KMT2D):c.13644C>T (p.Ser4548=) rs201119371 0.00297
NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=) rs3737682 0.00297
NM_014714.4(IFT140):c.1541T>A (p.Leu514His) rs150903791 0.00297
NM_014714.4(IFT140):c.1542C>A (p.Leu514=) rs141542834 0.00297
NM_020066.5(FMN2):c.1352T>A (p.Leu451Gln) rs145379416 0.00297
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765 0.00297
NM_001324144.2(ZNF41):c.590A>G (p.Lys197Arg) rs148585367 0.00296
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00296
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala) rs58806616 0.00296
NM_001848.3(COL6A1):c.1612-6C>T rs143812383 0.00296
NM_007126.5(VCP):c.1704A>G (p.Gln568=) rs142577424 0.00296
NM_020549.5(CHAT):c.1135G>C (p.Asp379His) rs115212829 0.00296
NM_025074.7(FRAS1):c.8832C>T (p.Ser2944=) rs114854941 0.00296
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825 0.00295
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=) rs34439033 0.00295
NM_001267550.2(TTN):c.2765G>A (p.Arg922His) rs56046320 0.00295
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005 0.00295
NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val) rs113651939 0.00295
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833 0.00295
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr) rs148076109 0.00295
NM_004527.4(MEOX1):c.126G>A (p.Pro42=) rs141693578 0.00295
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=) rs55921307 0.00295
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_001844.5(COL2A1):c.1433C>T (p.Pro478Leu) rs201823490 0.00294
NM_001852.4(COL9A2):c.95G>A (p.Arg32Gln) rs200424850 0.00294
NM_014762.4(DHCR24):c.81C>T (p.Leu27=) rs140995590 0.00294
NM_015404.4(WHRN):c.1365T>C (p.Ser455=) rs111033459 0.00294
NM_022356.4(P3H1):c.1473+5G>T rs114044880 0.00294
NM_000238.4(KCNH2):c.3152+12C>A rs72549420 0.00293
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile) rs112464110 0.00293
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=) rs73038337 0.00293
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg) rs72647870 0.00293
NM_001384474.1(LOXHD1):c.2264G>T (p.Gly755Val) rs188517529 0.00293
NM_004187.5(KDM5C):c.1764G>A (p.Gln588=) rs61733871 0.00293
NM_004482.4(GALNT3):c.132A>G (p.Gln44=) rs149809222 0.00293
NM_005529.7(HSPG2):c.4877G>A (p.Arg1626His) rs41311989 0.00293
NM_005591.4(MRE11):c.121G>A (p.Asp41Asn) rs116679717 0.00293
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094 0.00293
NM_012208.4(HARS2):c.1105G>C (p.Gly369Arg) rs61736946 0.00293
NM_213599.3(ANO5):c.259G>A (p.Val87Ile) rs34994927 0.00293
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn) rs2219594 0.00292
NM_000142.5(FGFR3):c.393G>A (p.Ser131=) rs55662109 0.00292
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673 0.00292
NM_000271.5(NPC1):c.3477+4A>G rs114073738 0.00292
NM_001164508.2(NEB):c.7514C>A (p.Ala2505Glu) rs35292878 0.00292
NM_001378414.1(HDAC4):c.1953C>T (p.Pro651=) rs146056747 0.00292
NM_005006.7(NDUFS1):c.421-7A>G rs192949406 0.00292
NM_006059.4(LAMC3):c.2517G>A (p.Thr839=) rs140540789 0.00292
NM_006182.4(DDR2):c.1513G>A (p.Gly505Ser) rs115169993 0.00292
NM_006929.5(SKIC2):c.179A>G (p.Gln60Arg) rs35985869 0.00292
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343 0.00292
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His) rs34615430 0.00292
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00292
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) rs144906721 0.00292
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_001256317.3(TMPRSS3):c.1119C>T (p.Asp373=) rs113747896 0.00291
NM_001378414.1(HDAC4):c.1095+10C>G rs11896634 0.00291
NM_001458.5(FLNC):c.8003T>C (p.Met2668Thr) rs200502811 0.00291
NM_005529.7(HSPG2):c.9514-3C>T rs114851424 0.00291
NM_015346.4(ZFYVE26):c.5121A>C (p.Gly1707=) rs143981992 0.00291
NM_000059.4(BRCA2):c.7805+6C>G rs81002819 0.00290
NM_000155.4(GALT):c.510C>A (p.Ile170=) rs61735984 0.00290
NM_000780.4(CYP7A1):c.1192C>G (p.Pro398Ala) rs142708991 0.00290
NM_001031679.3(MSRB3):c.180C>T (p.Thr60=) rs147698935 0.00290
NM_001034852.3(SMOC1):c.567G>A (p.Pro189=) rs142590267 0.00290
NM_001267550.2(TTN):c.69716-5C>G rs72646886 0.00290
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu) rs72648256 0.00290
NM_001378120.1(MBD5):c.3942T>A (p.Gly1314=) rs115816749 0.00290
NM_001386140.1(MTTP):c.1731C>T (p.Ala577=) rs112506924 0.00290
NM_002691.4(POLD1):c.1977C>T (p.Ile659=) rs45605236 0.00290
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_006662.3(SRCAP):c.3388C>T (p.Pro1130Ser) rs143519723 0.00290
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642 0.00290
NM_020436.5(SALL4):c.2215G>T (p.Ala739Ser) rs41274696 0.00290
NM_153676.4(USH1C):c.381G>T (p.Gly127=) rs41282942 0.00290
NM_182961.4(SYNE1):c.11541G>A (p.Met3847Ile) rs74463786 0.00290
NM_014014.5(SNRNP200):c.5664C>T (p.His1888=) rs139731897 0.00289
NM_022124.6(CDH23):c.2970C>T (p.Asp990=) rs56216952 0.00289
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_000093.5(COL5A1):c.240C>T (p.Asp80=) rs79724538 0.00288
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575 0.00288
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478 0.00288
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780 0.00288
NM_004715.5(CTDP1):c.2274G>A (p.Pro758=) rs140627086 0.00288
NM_007078.3(LDB3):c.2016C>T (p.Cys672=) rs45578640 0.00288
NM_022436.3(ABCG5):c.1763-7T>G rs114780578 0.00288
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898 0.00287
NM_000875.5(IGF1R):c.1310G>A (p.Arg437His) rs34516635 0.00287
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln) rs72677233 0.00287
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His) rs75031300 0.00287
NM_001292063.2(OTOG):c.2398G>A (p.Asp800Asn) rs141010212 0.00287
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met) rs41287112 0.00287
NM_004187.5(KDM5C):c.3540G>A (p.Thr1180=) rs76525703 0.00287
NM_004260.4(RECQL4):c.3058G>A (p.Val1020Met) rs114149451 0.00287
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser) rs145733598 0.00287
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met) rs56342240 0.00287
NM_005045.4(RELN):c.906C>T (p.Ala302=) rs114494558 0.00287
NM_005445.4(SMC3):c.255A>G (p.Ser85=) rs146433240 0.00287
NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=) rs34352773 0.00287
NM_021098.3(CACNA1H):c.4039-4G>A rs57315342 0.00287
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323 0.00287
NM_000503.6(EYA1):c.840C>A (p.Ile280=) rs55972891 0.00286
NM_001164508.2(NEB):c.18861C>T (p.Arg6287=) rs146294986 0.00286
NM_001458.5(FLNC):c.4928-7T>C rs201957008 0.00286
NM_016356.5(DCDC2):c.1044C>T (p.Asp348=) rs143313706 0.00286
NM_198525.3(KIF7):c.1220C>A (p.Ala407Asp) rs587780375 0.00286
NM_000452.3(SLC10A2):c.910T>C (p.Phe304Leu) rs61966074 0.00285
NM_001235.5(SERPINH1):c.744C>T (p.Asp248=) rs61733248 0.00285
NM_001374353.1(GLI2):c.2967C>T (p.Gly989=) rs373880077 0.00285
NM_003923.3(FOXH1):c.783T>C (p.Pro261=) rs151147114 0.00285
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) rs61754061 0.00285
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys) rs41281318 0.00285
NM_024649.5(BBS1):c.831-5C>T rs56177555 0.00285
NM_025074.7(FRAS1):c.6584A>G (p.Glu2195Gly) rs10029227 0.00285
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001 0.00284
NM_001079802.2(FKTN):c.1045-40C>A rs145883833 0.00284
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu) rs55821405 0.00284
NM_006231.4(POLE):c.6820C>G (p.Leu2274Val) rs148788180 0.00284
NM_016341.4(PLCE1):c.2728G>A (p.Val910Ile) rs61751497 0.00284
NM_018136.5(ASPM):c.3599-4A>G rs149303254 0.00284
NM_019066.5(MAGEL2):c.2784C>T (p.Ile928=) rs189752384 0.00284
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu) rs150179494 0.00284
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) rs13381670 0.00283
NM_000501.4(ELN):c.1566T>A (p.Gly522=) rs61734584 0.00283
NM_001008216.2(GALE):c.772C>T (p.Leu258=) rs147618796 0.00283
NM_001035.3(RYR2):c.1218G>A (p.Ser406=) rs147389346 0.00283
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys) rs189476639 0.00283
NM_001458.5(FLNC):c.3006G>A (p.Arg1002=) rs61737781 0.00283
NM_003482.4(KMT2D):c.4020+13C>G rs184377216 0.00283
NM_003919.3(SGCE):c.769A>C (p.Thr257Pro) rs116105264 0.00283
NM_005045.4(RELN):c.416C>G (p.Thr139Ser) rs79471015 0.00283
NM_006269.2(RP1):c.382C>A (p.Leu128Ile) rs147116231 0.00283
NM_182961.4(SYNE1):c.2995G>A (p.Glu999Lys) rs148346599 0.00283
NM_000271.5(NPC1):c.1071G>A (p.Ser357=) rs61731964 0.00282
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266 0.00282
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys) rs116524991 0.00282
NM_001429.4(EP300):c.2064A>G (p.Leu688=) rs61756763 0.00282
NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala) rs56204478 0.00282
NM_025193.4(HSD3B7):c.103C>G (p.Arg35Gly) rs150464212 0.00282
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=) rs1800219 0.00281
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135 0.00281
NM_001909.5(CTSD):c.912G>A (p.Pro304=) rs140238987 0.00281
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu) rs112581563 0.00281
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386 0.00280
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957 0.00280
NM_001004334.4(GPR179):c.5563C>G (p.Leu1855Val) rs79954845 0.00280
NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile) rs34203644 0.00280
NM_001203.3(BMPR1B):c.418G>A (p.Val140Ile) rs138801821 0.00280
NM_015340.4(LARS2):c.2307C>T (p.Ser769=) rs143838895 0.00280
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=) rs114079815 0.00280
NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys) rs138861831 0.00280
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254 0.00280
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) rs147551003 0.00280
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354 0.00280
NM_000426.4(LAMA2):c.5633C>T (p.Ser1878Phe) rs139586720 0.00279
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048 0.00279
NM_004006.3(DMD):c.4529A>G (p.Lys1510Arg) rs72468638 0.00279
NM_004304.5(ALK):c.3837-9_3837-7dup rs373764155 0.00279
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349 0.00279
NM_006383.4(CIB2):c.448G>A (p.Asp150Asn) rs141932061 0.00279
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126 0.00278
NM_001384140.1(PCDH15):c.4860G>A (p.Thr1620=) rs148772706 0.00278
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=) rs35504014 0.00278
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593 0.00278
NM_002181.4(IHH):c.315+8C>T rs186249490 0.00278
NM_018136.5(ASPM):c.9444+8T>G rs140150599 0.00278
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698 0.00278
NM_182961.4(SYNE1):c.4162C>T (p.Arg1388Trp) rs34028822 0.00278
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000257.4(MYH7):c.4788G>A (p.Ser1596=) rs146858930 0.00277
NM_000843.4(GRM6):c.1875C>T (p.Tyr625=) rs62638215 0.00277
NM_001040142.2(SCN2A):c.387-10G>A rs2304015 0.00277
NM_001201543.2(FAM161A):c.354G>T (p.Gln118His) rs140622968 0.00277
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val) rs55791823 0.00277
NM_014795.4(ZEB2):c.489C>T (p.Ile163=) rs138859323 0.00277
NM_172364.5(CACNA2D4):c.888G>A (p.Val296=) rs192991525 0.00277
NM_000152.5(GAA):c.1552-13G>A rs111261964 0.00276
NM_000203.5(IDUA):c.299+7G>A rs200911718 0.00276
NM_000257.4(MYH7):c.2162+4G>A rs145738465 0.00276
NM_000260.4(MYO7A):c.1854G>A (p.Leu618=) rs35429535 0.00276
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862 0.00276
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg) rs78488552 0.00276
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_004727.3(SLC24A1):c.1859C>T (p.Ala620Val) rs35398714 0.00276
NM_015346.4(ZFYVE26):c.4264G>A (p.Val1422Met) rs148552744 0.00276
NM_020297.4(ABCC9):c.1056C>T (p.Tyr352=) rs149408382 0.00276
NM_144997.7(FLCN):c.1177-21G>A rs150687840 0.00276
NM_182961.4(SYNE1):c.10281G>T (p.Thr3427=) rs147402839 0.00276
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly) rs35297226 0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) rs61737803 0.00275
NM_000548.5(TSC2):c.4006-8C>T rs45517325 0.00275
NM_001193315.2(VIPAS39):c.861C>T (p.Ser287=) rs148698913 0.00275
NM_001371333.1(DIABLO):c.670G>A (p.Gly224Arg) rs150199226 0.00275
NM_001378615.1(CC2D2A):c.2475C>T (p.Ile825=) rs113835820 0.00275
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086 0.00275
NM_173630.4(RTTN):c.5143A>G (p.Asn1715Asp) rs35374168 0.00275
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) rs149758808 0.00275
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val) rs145207584 0.00275
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902 0.00274
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298 0.00274
NM_000257.4(MYH7):c.4353+10G>A rs202205780 0.00274
NM_000969.5(RPL5):c.3+3G>C rs200628272 0.00274
NM_001083962.2(TCF4):c.1905G>A (p.Ala635=) rs151150677 0.00274
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155 0.00274
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994 0.00274
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu) rs72646840 0.00274
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222 0.00274
NM_001854.4(COL11A1):c.4468A>G (p.Ile1490Val) rs145901197 0.00274
NM_004260.4(RECQL4):c.3392G>A (p.Arg1131Lys) rs201369291 0.00274
NM_006005.3(WFS1):c.2205C>T (p.Tyr735=) rs71530911 0.00274
NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp) rs2230516 0.00274
NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494 0.00274
NM_080669.6(SLC46A1):c.756C>G (p.Val252=) rs185900287 0.00274
NM_182961.4(SYNE1):c.13863G>A (p.Thr4621=) rs112266645 0.00274
NM_207361.6(FREM2):c.2128C>T (p.Arg710Cys) rs41292753 0.00274
NM_001159773.2(CANT1):c.1123A>T (p.Met375Leu) rs139486406 0.00273
NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly) rs72648980 0.00273
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=) rs145720664 0.00273
NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg) rs75450131 0.00273
NM_012208.4(HARS2):c.7C>G (p.Leu3Val) rs186043734 0.00273
NM_020822.3(KCNT1):c.333G>A (p.Ser111=) rs56008253 0.00273
NM_182894.3(VSX2):c.522C>T (p.Asp174=) rs78509400 0.00273
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_000326.5(RLBP1):c.29T>A (p.Met10Lys) rs77384282 0.00272
NM_000540.3(RYR1):c.8376G>A (p.Arg2792=) rs150388417 0.00272
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176 0.00272
NM_004172.5(SLC1A3):c.1489T>C (p.Leu497=) rs150357327 0.00272
NM_004369.4(COL6A3):c.5820C>T (p.Ser1940=) rs113542401 0.00272
NM_004625.4(WNT7A):c.75C>T (p.Gly25=) rs35103037 0.00272
NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile) rs141292904 0.00272
NM_015909.4(NBAS):c.6790G>C (p.Asp2264His) rs145372749 0.00272
NM_025074.7(FRAS1):c.11907C>G (p.His3969Gln) rs140492803 0.00272
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) rs150880478 0.00272
NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln) rs148594393 0.00272
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu) rs56226109 0.00271
NM_000426.4(LAMA2):c.5247C>T (p.Ala1749=) rs149951387 0.00271
NM_001177316.2(SLC34A3):c.1149C>T (p.Ala383=) rs199536442 0.00271
NM_001395413.1(POR):c.674C>T (p.Pro225Leu) rs17853284 0.00271
NM_005422.4(TECTA):c.972G>C (p.Val324=) rs147790742 0.00271
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val) rs186999408 0.00271
NM_138694.4(PKHD1):c.6184C>T (p.Leu2062=) rs116156469 0.00271
NM_138694.4(PKHD1):c.6211A>C (p.Asn2071His) rs143832120 0.00271
NM_181078.3(IL21R):c.1033G>A (p.Gly345Ser) rs56148525 0.00271
NM_198999.3(SLC26A5):c.137T>C (p.Leu46Pro) rs141952919 0.00271
NM_000278.5(PAX2):c.360C>T (p.Ala120=) rs41291450 0.00270
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe) rs142838522 0.00270
NM_001128205.2(SULF1):c.669G>T (p.Ala223=) rs111474126 0.00270
NM_002206.3(ITGA7):c.2569G>A (p.Gly857Ser) rs149081471 0.00270
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg) rs146165014 0.00270
NM_007126.5(VCP):c.927C>T (p.Ile309=) rs34097935 0.00270
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202 0.00270
NM_018979.4(WNK1):c.5583+3A>G rs72650758 0.00270
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser) rs140824939 0.00270
NM_147127.5(EVC2):c.3659+8T>C rs200119306 0.00270
NM_000213.5(ITGB4):c.4008C>T (p.Asp1336=) rs61735288 0.00269
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00269
NM_000392.5(ABCC2):c.4527C>T (p.Asn1509=) rs8187709 0.00269
NM_001457.4(FLNB):c.362A>T (p.Tyr121Phe) rs147846832 0.00269
NM_003737.4(DCHS1):c.4072G>A (p.Glu1358Lys) rs184586428 0.00269
NM_006005.3(WFS1):c.1674C>T (p.Arg558=) rs61735402 0.00269
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) rs139180845 0.00269
NM_018979.4(WNK1):c.5281-4G>A rs72650740 0.00269
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met) rs61757691 0.00269
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe) rs34226296 0.00268
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met) rs143708308 0.00268
NM_006182.4(DDR2):c.1382C>T (p.Ser461Leu) rs140710321 0.00268
NM_182961.4(SYNE1):c.8400C>T (p.Leu2800=) rs114747836 0.00268
NM_194248.3(OTOF):c.2215-80T>C rs143141993 0.00268
NM_000168.6(GLI3):c.2373G>A (p.Pro791=) rs61754622 0.00267
NM_000218.3(KCNQ1):c.-5T>C rs532941548 0.00267
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=) rs45489099 0.00267
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr) rs146608896 0.00267
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564 0.00267
NM_001384140.1(PCDH15):c.1362C>T (p.Val454=) rs61735479 0.00267
NM_001854.4(COL11A1):c.2766A>G (p.Gly922=) rs139911745 0.00267
NM_004369.4(COL6A3):c.2463T>C (p.Ser821=) rs115387170 0.00267
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=) rs148904096 0.00267
NM_006516.4(SLC2A1):c.1296C>T (p.Tyr432=) rs75485205 0.00267
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267
NM_024577.4(SH3TC2):c.1842C>T (p.Asp614=) rs138411915 0.00267
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) rs141330687 0.00267
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_015272.5(RPGRIP1L):c.3745G>T (p.Asp1249Tyr) rs148773489 0.00266
NM_020361.5(CPA6):c.1237C>T (p.Leu413Phe) rs142597675 0.00266
NM_024408.4(NOTCH2):c.2585C>T (p.Ala862Val) rs35656321 0.00266
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg) rs641252 0.00265
NM_001035.3(RYR2):c.5613C>T (p.Asp1871=) rs116774472 0.00265
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=) rs140350441 0.00265
NM_001267550.2(TTN):c.970C>T (p.Pro324Ser) rs72647845 0.00265
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys) rs186486235 0.00265
NM_002734.5(PRKAR1A):c.1029C>T (p.Gly343=) rs1803241 0.00265
NM_004369.4(COL6A3):c.730A>G (p.Ile244Val) rs116729313 0.00265
NM_005529.7(HSPG2):c.7086C>T (p.Cys2362=) rs139001173 0.00265
NM_012213.3(MLYCD):c.776G>C (p.Gly259Ala) rs77493891 0.00265
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu) rs145255635 0.00265
NM_017775.4(TTC19):c.1041A>G (p.Gln347=) rs77955179 0.00265
NM_201253.3(CRB1):c.1470C>T (p.Gly490=) rs35193230 0.00265
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943 0.00264
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) rs77144743 0.00264
NM_000542.5(SFTPB):c.526C>T (p.Leu176Phe) rs3024801 0.00264
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_000717.5(CA4):c.492G>A (p.Ala164=) rs139119204 0.00264
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811 0.00264
NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg) rs146869947 0.00264
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg) rs72646823 0.00264
NM_005379.4(MYO1A):c.2724+7G>A rs55985817 0.00264
NM_014141.6(CNTNAP2):c.3105C>T (p.Asn1035=) rs112483670 0.00264
NM_014639.4(SKIC3):c.4344A>G (p.Leu1448=) rs139074002 0.00264
NM_016239.4(MYO15A):c.10242C>T (p.Phe3414=) rs188485743 0.00264
NM_016239.4(MYO15A):c.4779+9G>A rs183256997 0.00264
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066 0.00264
NM_017849.4(TMEM127):c.268G>A (p.Val90Met) rs121908823 0.00264
NM_018100.4(EFHC1):c.25T>C (p.Leu9=) rs149315015 0.00264
NM_078470.6(COX15):c.1026C>T (p.Phe342=) rs147724430 0.00264
NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=) rs147274045 0.00264
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438 0.00263
NM_001267550.2(TTN):c.70952T>G (p.Ile23651Ser) rs149075285 0.00263
NM_001365536.1(SCN9A):c.4356C>T (p.Phe1452=) rs201145311 0.00263
NM_020779.4(WDR35):c.318T>C (p.Ile106=) rs115963122 0.00263
NM_025243.4(SLC19A3):c.546G>A (p.Val182=) rs143188189 0.00263
NM_201384.3(PLEC):c.9718G>A (p.Glu3240Lys) rs75857070 0.00263
NM_000193.4(SHH):c.570G>A (p.Ser190=) rs9333633 0.00262
NM_000232.5(SGCB):c.92G>T (p.Ser31Ile) rs115928999 0.00262
NM_000744.7(CHRNA4):c.1352C>T (p.Pro451Leu) rs55915440 0.00262
NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=) rs45569837 0.00262
NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser) rs141631911 0.00262
NM_001126049.2(KLLN):c.-898G>A rs538728843 0.00262
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln) rs374664760 0.00262
NM_001191061.2(SLC25A22):c.705T>C (p.Ala235=) rs142861804 0.00262
NM_001257180.2(SLC20A2):c.58T>C (p.Leu20=) rs115993270 0.00262
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_001369268.1(ACAN):c.7524C>T (p.Ser2508=) rs190361551 0.00262
NM_018668.5(VPS33B):c.842C>G (p.Ala281Gly) rs115308854 0.00262
NM_022124.6(CDH23):c.8808C>T (p.Asp2936=) rs148743086 0.00262
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722 0.00262
NM_025237.3(SOST):c.-10G>A rs190743758 0.00262
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala) rs201763096 0.00262
NM_182914.3(SYNE2):c.12560A>T (p.Asn4187Ile) rs34480732 0.00262
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg) rs181717727 0.00261
NM_001291303.3(FAT4):c.14666G>A (p.Arg4889Lys) rs35845544 0.00261
NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=) rs34338935 0.00261
NM_001379286.1(ZNF423):c.3393C>T (p.Pro1131=) rs61755180 0.00261
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=) rs34201226 0.00261
NM_004260.4(RECQL4):c.3435G>C (p.Gln1145His) rs61755066 0.00261
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240 0.00261
NM_004560.4(ROR2):c.7C>T (p.Arg3Trp) rs539329891 0.00261
NM_005562.3(LAMC2):c.493C>T (p.Arg165Cys) rs142335339 0.00261
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala) rs146519878 0.00261
NM_152564.5(VPS13B):c.9330+9A>G rs184381851 0.00261
NM_198525.3(KIF7):c.3111+9C>A rs147996726 0.00261
NM_207361.6(FREM2):c.9071A>G (p.Asn3024Ser) rs115149211 0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_000540.3(RYR1):c.11360-9T>A rs150187840 0.00260
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_000900.5(MGP):c.115A>C (p.Asn39His) rs145210821 0.00260
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869 0.00260
NM_004369.4(COL6A3):c.8458G>A (p.Val2820Ile) rs115171119 0.00260
NM_006662.3(SRCAP):c.8703A>G (p.Leu2901=) rs61746613 0.00260
NM_013435.3(RAX):c.197G>C (p.Arg66Thr) rs536765190 0.00260
NM_015340.4(LARS2):c.2602G>A (p.Glu868Lys) rs34965084 0.00260
NM_000070.3(CAPN3):c.930T>C (p.Asp310=) rs150356488 0.00259
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224 0.00259
NM_002693.3(POLG):c.948G>A (p.Lys316=) rs61756401 0.00259
NM_004463.3(FGD1):c.676G>A (p.Ala226Thr) rs138723423 0.00259
NM_004937.3(CTNS):c.462-7C>A rs189632527 0.00259
NM_013372.7(GREM1):c.103C>G (p.Pro35Ala) rs111262341 0.00259
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409 0.00259
NM_181882.3(PRX):c.2043C>T (p.Pro681=) rs56743160 0.00259
NM_182914.3(SYNE2):c.20410G>A (p.Asp6804Asn) rs150644129 0.00259
NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile) rs143157673 0.00258
NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe) rs149185431 0.00258
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890 0.00258
NM_001429.4(EP300):c.5814G>A (p.Thr1938=) rs112948044 0.00258
NM_001429.4(EP300):c.865A>G (p.Met289Val) rs2230111 0.00258
NM_003816.3(ADAM9):c.280G>A (p.Val94Ile) rs146980702 0.00258
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689 0.00258
NM_005591.4(MRE11):c.969A>G (p.Pro323=) rs13447633 0.00258
NM_006059.4(LAMC3):c.4160C>T (p.Ala1387Val) rs141497885 0.00258
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) rs138716143 0.00258
NM_013382.7(POMT2):c.924-10C>T rs142122657 0.00258
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln) rs140756827 0.00258
NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val) rs147223770 0.00258
NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr) rs72648913 0.00258
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036 0.00257
NM_000744.7(CHRNA4):c.9A>G (p.Leu3=) rs80075498 0.00257
NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=) rs138609094 0.00257
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn) rs115013641 0.00257
NM_001164508.2(NEB):c.10744G>A (p.Val3582Ile) rs139798654 0.00257
NM_004329.3(BMPR1A):c.618A>G (p.Leu206=) rs55992440 0.00257
NM_005562.3(LAMC2):c.1899G>C (p.Leu633=) rs141812464 0.00257
NM_022081.6(HPS4):c.1883G>A (p.Arg628His) rs78892693 0.00257
NM_000168.6(GLI3):c.1357-17C>G rs190600888 0.00256
NM_000542.5(SFTPB):c.403G>A (p.Gly135Ser) rs35373464 0.00256
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) rs3027927 0.00256
NM_006662.3(SRCAP):c.8865C>G (p.Ser2955=) rs149043190 0.00256
NM_014000.3(VCL):c.2025G>A (p.Val675=) rs140766884 0.00256
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_000542.5(SFTPB):c.291G>A (p.Glu97=) rs34682912 0.00255
NM_001170629.2(CHD8):c.456A>G (p.Pro152=) rs61752839 0.00255
NM_001267550.2(TTN):c.84893G>A (p.Arg28298Gln) rs187270666 0.00255
NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val) rs139506970 0.00255
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met) rs375045076 0.00255
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr) rs202233363 0.00255
NM_004360.5(CDH1):c.324A>G (p.Arg108=) rs116542018 0.00255
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala) rs41279055 0.00255
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_015311.3(OBSL1):c.2238G>A (p.Pro746=) rs142650279 0.00255
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) rs61746518 0.00255
NM_144988.4(ALG14):c.113G>T (p.Ser38Ile) rs139521179 0.00255
NM_170699.3(GPBAR1):c.458C>T (p.Ala153Val) rs138439621 0.00255
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=) rs79125791 0.00254
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=) rs138498780 0.00254
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr) rs114015043 0.00254
NM_133497.4(KCNV2):c.58G>A (p.Glu20Lys) rs76776637 0.00254
NM_201253.3(CRB1):c.600A>G (p.Thr200=) rs77713666 0.00254
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_000334.4(SCN4A):c.2748C>G (p.Asn916Lys) rs115379510 0.00253
NM_000392.5(ABCC2):c.1032-3C>T rs139800035 0.00253
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_001369.3(DNAH5):c.7752+10T>C rs149460805 0.00253
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=) rs150392503 0.00253
NM_005802.5(TOPORS):c.2643C>G (p.His881Gln) rs41302222 0.00253
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser) rs143877693 0.00253
NM_016616.5(NME8):c.1405A>C (p.Ile469Leu) rs147791304 0.00253
NM_018136.5(ASPM):c.9996T>C (p.Thr3332=) rs139927527 0.00253
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp) rs1872267 0.00253
NM_000152.5(GAA):c.2481+16G>A rs41292408 0.00252
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_001031679.3(MSRB3):c.486G>A (p.Ala162=) rs35393316 0.00252
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378 0.00252
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) rs72646882 0.00252
NM_001457.4(FLNB):c.1044C>T (p.Asp348=) rs111996979 0.00252
NM_001848.3(COL6A1):c.2130G>A (p.Thr710=) rs147219060 0.00252
NM_002206.3(ITGA7):c.3058-6C>T rs201070308 0.00252
NM_005548.3(KARS1):c.1674C>T (p.Leu558=) rs143267922 0.00252
NM_007294.4(BRCA1):c.4987-20A>G rs80358035 0.00252
NM_025074.7(FRAS1):c.2861C>T (p.Thr954Met) rs17003166 0.00252
NM_152415.3(VPS37A):c.637A>G (p.Ile213Val) rs17687375 0.00252
NM_000035.4(ALDOB):c.799+6G>A rs141888548 0.00251
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) rs142647321 0.00251
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu) rs57932685 0.00251
NM_001267550.2(TTN):c.96501T>C (p.Ser32167=) rs139223781 0.00251
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr) rs55660660 0.00251
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=) rs112577505 0.00251
NM_003049.4(SLC10A1):c.800C>T (p.Ser267Phe) rs2296651 0.00251
NM_015192.4(PLCB1):c.3116T>C (p.Ile1039Thr) rs75820839 0.00251
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) rs77138370 0.00251
NM_198239.2(CCN6):c.310G>C (p.Val104Leu) rs78266262 0.00251
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala) rs2306618 0.00250
NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala) rs188370772 0.00250
NM_002335.4(LRP5):c.4278T>C (p.Tyr1426=) rs142328132 0.00250
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe) rs115198029 0.00250
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00250
NM_182914.3(SYNE2):c.2560C>G (p.Gln854Glu) rs34449017 0.00250
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_000260.4(MYO7A):c.1554+8G>A rs111033227 0.00249
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) rs72552027 0.00249
NM_004393.6(DAG1):c.1233G>A (p.Val411=) rs145765079 0.00249
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln) rs113591604 0.00249
NM_016356.5(DCDC2):c.855A>G (p.Ser285=) rs141519329 0.00249
NM_182914.3(SYNE2):c.10835A>G (p.Gln3612Arg) rs78110192 0.00249
NM_000276.4(OCRL):c.439+3A>G rs61752971 0.00248
NM_001360.3(DHCR7):c.399C>T (p.Ala133=) rs147424205 0.00248
NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=) rs182840163 0.00248
NM_001457.4(FLNB):c.4222+8A>G rs190025781 0.00248
NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu) rs143827025 0.00248
NM_004407.4(DMP1):c.879T>C (p.Ser293=) rs150896376 0.00248
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413 0.00248
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369 0.00248
NM_025009.5(CEP135):c.3265T>A (p.Leu1089Ile) rs76659072 0.00248
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00247
NM_000444.6(PHEX):c.1344C>T (p.Asp448=) rs144911719 0.00247
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=) rs368002375 0.00247
NM_001128228.3(TPRN):c.1748A>G (p.Lys583Arg) rs139459217 0.00247
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077 0.00247
NM_001457.4(FLNB):c.1559C>T (p.Pro520Leu) rs138220431 0.00247
NM_002180.3(IGHMBP2):c.2091G>A (p.Pro697=) rs113615425 0.00247
NM_003282.4(TNNI2):c.354G>A (p.Ser118=) rs141400587 0.00247
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_032273.4(TMEM126A):c.314G>A (p.Arg105Gln) rs146573578 0.00247
NM_201384.3(PLEC):c.1956C>T (p.Thr652=) rs201835507 0.00247
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) rs116302615 0.00246
NM_000124.4(ERCC6):c.4065T>G (p.Asp1355Glu) rs34917815 0.00246
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) rs145525174 0.00246
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=) rs141317474 0.00246
NM_002334.4(LRP4):c.5357T>A (p.Met1786Lys) rs61748876 0.00246
NM_004260.4(RECQL4):c.1390+3G>A rs148912524 0.00246
NM_000098.3(CPT2):c.1806T>C (p.Phe602=) rs147953465 0.00245
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780 0.00245
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys) rs148352371 0.00245
NM_000553.6(WRN):c.970A>G (p.Thr324Ala) rs1800390 0.00245
NM_001082538.3(TCTN1):c.1379G>C (p.Ser460Thr) rs190390987 0.00245
NM_001170629.2(CHD8):c.262G>A (p.Glu88Lys) rs78640816 0.00245
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys) rs72648981 0.00245
NM_001365088.1(SLC12A6):c.3042+8A>G rs186141509 0.00245
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006 0.00245
NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys) rs34096980 0.00245
NM_005159.5(ACTC1):c.454+9G>A rs148695567 0.00245
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val) rs140067659 0.00245
NM_024408.4(NOTCH2):c.3519C>T (p.Cys1173=) rs115325955 0.00245
NM_032119.4(ADGRV1):c.3295A>G (p.Thr1099Ala) rs61754947 0.00245
NM_206933.4(USH2A):c.13404A>G (p.Arg4468=) rs146994147 0.00245
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=) rs41263757 0.00244
NM_000261.2(MYOC):c.366C>T (p.Gly122=) rs145354114 0.00244
NM_001008216.2(GALE):c.912G>A (p.Val304=) rs143694860 0.00244
NM_001379081.2(FREM1):c.4711G>A (p.Asp1571Asn) rs115421185 0.00244
NM_005529.7(HSPG2):c.2462C>T (p.Ala821Val) rs141901178 0.00244
NM_014251.3(SLC25A13):c.1680C>T (p.Ser560=) rs150082469 0.00244
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser) rs146197239 0.00244
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556 0.00243
NM_000350.3(ABCA4):c.1653G>A (p.Val551=) rs61753963 0.00243
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile) rs144250390 0.00243
NM_001232.4(CASQ2):c.198G>A (p.Thr66=) rs74114618 0.00243
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260 0.00243
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter) rs115746363 0.00243
NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=) rs138049720 0.00243
NM_005529.7(HSPG2):c.3945T>C (p.Ser1315=) rs72866991 0.00243
NM_006214.4(PHYH):c.717C>T (p.Tyr239=) rs142720126 0.00243
NM_006432.5(NPC2):c.*9T>C rs80216539 0.00243
NM_020822.3(KCNT1):c.2430C>T (p.Ala810=) rs139114208 0.00243
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544 0.00243
NM_173660.5(DOK7):c.1295G>A (p.Arg432Lys) rs145419117 0.00243
NM_000540.3(RYR1):c.14130-8C>G rs140808099 0.00242
NM_001089.3(ABCA3):c.2309C>T (p.Pro770Leu) rs143929832 0.00242
NM_001164508.2(NEB):c.4980C>T (p.Pro1660=) rs142074817 0.00242
NM_001292063.2(OTOG):c.7867G>A (p.Asp2623Asn) rs183470913 0.00242
NM_001849.4(COL6A2):c.2332G>A (p.Asp778Asn) rs28562813 0.00242
NM_001852.4(COL9A2):c.1007C>A (p.Ala336Glu) rs150075912 0.00242
NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu) rs150687987 0.00242
NM_002292.4(LAMB2):c.109C>G (p.Pro37Ala) rs144765752 0.00242
NM_002474.3(MYH11):c.453G>A (p.Pro151=) rs61734199 0.00242
NM_004403.3(GSDME):c.521T>C (p.Met174Thr) rs876306 0.00242
NM_004715.5(CTDP1):c.2322C>T (p.Tyr774=) rs35234657 0.00242
NM_006031.6(PCNT):c.9274-3C>T rs200348425 0.00242
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776 0.00242
NM_032119.4(ADGRV1):c.7284T>C (p.Asn2428=) rs148932387 0.00242
NM_000137.4(FAH):c.1259G>A (p.Ter420=) rs61747586 0.00241
NM_000337.6(SGCD):c.*2A>C rs200757725 0.00241
NM_000543.5(SMPD1):c.441G>A (p.Val147=) rs148944108 0.00241
NM_001004334.4(GPR179):c.4709C>T (p.Thr1570Met) rs187512697 0.00241
NM_001793.6(CDH3):c.1500C>T (p.Thr500=) rs35232945 0.00241
NM_004560.4(ROR2):c.372C>T (p.Asp124=) rs145568368 0.00241
NM_016239.4(MYO15A):c.3774C>T (p.Ile1258=) rs148723625 0.00241
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) rs138161346 0.00241
NM_025074.7(FRAS1):c.7033G>A (p.Glu2345Lys) rs56291926 0.00241
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=) rs181573957 0.00240
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu) rs147106995 0.00240
NM_000557.5(GDF5):c.652A>C (p.Arg218=) rs116467702 0.00240
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=) rs142812510 0.00240
NM_002435.3(MPI):c.303C>T (p.Leu101=) rs139228075 0.00240
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=) rs113154524 0.00240
NM_002979.5(SCP2):c.687T>C (p.Asp229=) rs80033039 0.00240
NM_005876.5(SPEG):c.6076C>G (p.Arg2026Gly) rs531879999 0.00240
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974 0.00240
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser) rs149748934 0.00240
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser) rs111033479 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys) rs35689779 0.00239
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943 0.00239
NM_000726.5(CACNB4):c.655A>G (p.Met219Val) rs201870832 0.00239
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127 0.00239
NM_001379110.1(SLC9A6):c.1460+4A>G rs180727016 0.00239
NM_004281.4(BAG3):c.463G>A (p.Ala155Thr) rs61756328 0.00239
NM_004715.5(CTDP1):c.2581-5G>T rs199505565 0.00239
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser) rs71578980 0.00239
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser) rs190548814 0.00239
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
NM_032273.4(TMEM126A):c.154A>G (p.Ser52Gly) rs140047528 0.00239
NM_000240.4(MAOA):c.825G>A (p.Pro275=) rs138703731 0.00238
NM_000426.4(LAMA2):c.6429+8C>A rs199773264 0.00238
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys) rs72629785 0.00238
NM_001267550.2(TTN):c.84461C>T (p.Pro28154Leu) rs200350579 0.00238
NM_001365902.3(NFIX):c.1140G>A (p.Ser380=) rs201174259 0.00238
NM_003383.5(VLDLR):c.982A>G (p.Ser328Gly) rs116306908 0.00238
NM_003482.4(KMT2D):c.6573G>A (p.Thr2191=) rs202085637 0.00238
NM_004999.4(MYO6):c.1224-4A>G rs144031818 0.00238
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys) rs145310298 0.00238
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919 0.00238
NM_182943.3(PLOD2):c.1644C>T (p.Asn548=) rs150609339 0.00238
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) rs143777403 0.00238
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577 0.00237
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr) rs139468837 0.00237
NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser) rs35277762 0.00237
NM_001384732.1(CPLANE1):c.8958+4A>C rs199810663 0.00237
NM_014140.4(SMARCAL1):c.1995C>T (p.Ala665=) rs151241914 0.00237
NM_133497.4(KCNV2):c.291C>T (p.Ser97=) rs113456345 0.00237
NM_182961.4(SYNE1):c.18185C>T (p.Ser6062Leu) rs139790539 0.00237
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574 0.00237
NM_000426.4(LAMA2):c.4959+6G>T rs148060790 0.00236
NM_000557.5(GDF5):c.462C>A (p.Pro154=) rs150686636 0.00236
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=) rs35654397 0.00236
NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile) rs200342335 0.00236
NM_001386140.1(MTTP):c.2673C>T (p.Ser891=) rs115222767 0.00236
NM_001605.3(AARS1):c.1672-4T>A rs187509039 0.00236
NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=) rs41287108 0.00236
NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His) rs41301481 0.00236
NM_004360.5(CDH1):c.345G>A (p.Thr115=) rs1801023 0.00236
NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn) rs35234349 0.00236
NM_006383.4(CIB2):c.462G>A (p.Glu154=) rs117153558 0.00236
NM_014141.6(CNTNAP2):c.681C>T (p.His227=) rs142984073 0.00236
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939 0.00236
NM_018941.4(CLN8):c.290G>A (p.Arg97His) rs116605307 0.00236
NM_022124.6(CDH23):c.4842G>C (p.Leu1614=) rs368377560 0.00236
NM_024809.5(TCTN2):c.720C>G (p.Pro240=) rs149430216 0.00236
NM_025009.5(CEP135):c.638T>C (p.Val213Ala) rs150331261 0.00236
NM_025074.7(FRAS1):c.11605A>G (p.Ile3869Val) rs145035489 0.00236
NM_032119.4(ADGRV1):c.22+9T>C rs368604803 0.00236
NM_080916.3(DGUOK):c.123C>G (p.Leu41=) rs145252858 0.00236
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu) rs139525250 0.00236
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250 0.00235
NM_000702.4(ATP1A2):c.2967C>T (p.Phe989=) rs138826759 0.00235
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496 0.00235
NM_001256317.3(TMPRSS3):c.1125C>T (p.Tyr375=) rs111033292 0.00235
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=) rs368168812 0.00235
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=) rs116604145 0.00235
NM_001378609.3(OTOGL):c.3427A>G (p.Ile1143Val) rs117462138 0.00235
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=) rs186453356 0.00235
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln) rs201619500 0.00235
NM_182914.3(SYNE2):c.6880-5C>T rs187173455 0.00235
NM_203288.2(RP9):c.216A>G (p.Pro72=) rs114747263 0.00235
NM_000124.4(ERCC6):c.2403C>T (p.Ala801=) rs114896216 0.00234
NM_000124.4(ERCC6):c.3745G>A (p.Asp1249Asn) rs114234514 0.00234
NM_000141.5(FGFR2):c.1539C>T (p.Thr513=) rs74160617 0.00234
NM_001128840.3(CACNA1D):c.1407C>T (p.Ser469=) rs146730044 0.00234
NM_001267550.2(TTN):c.96108G>A (p.Val32036=) rs372773283 0.00234
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr) rs41272041 0.00234
NM_004369.4(COL6A3):c.3446G>A (p.Arg1149Gln) rs36062562 0.00234
NM_004541.4(NDUFA1):c.141G>C (p.Leu47=) rs140064980 0.00234
NM_006204.4(PDE6C):c.2037-7T>C rs181296577 0.00234
NM_017534.6(MYH2):c.4860C>G (p.Leu1620=) rs148538539 0.00234
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633 0.00234
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134 0.00233
NM_000057.4(BLM):c.4077-10C>T rs145310008 0.00233
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953 0.00233
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825 0.00233
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln) rs78046647 0.00233
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=) rs142528559 0.00233
NM_005633.4(SOS1):c.570C>T (p.Asp190=) rs55980502 0.00233
NM_005957.5(MTHFR):c.236+3A>G rs1413355 0.00233
NM_007317.3(KIF22):c.1397G>A (p.Arg466Gln) rs145879411 0.00233
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567 0.00233
NM_024009.3(GJB3):c.313C>A (p.His105Asn) rs150245955 0.00233
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901 0.00232
NM_001017420.3(ESCO2):c.506G>A (p.Arg169Gln) rs1052492 0.00232
NM_001037.5(SCN1B):c.267C>T (p.Arg89=) rs140949982 0.00232
NM_001173467.3(SP7):c.864G>A (p.Leu288=) rs113295055 0.00232
NM_001384140.1(PCDH15):c.4672-1640A>G rs145178582 0.00232
NM_002471.4(MYH6):c.1275C>T (p.Ile425=) rs61742470 0.00232
NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln) rs137974620 0.00232
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786 0.00232
NM_007254.4(PNKP):c.1497G>A (p.Leu499=) rs142199280 0.00232
NM_022437.3(ABCG8):c.491G>A (p.Arg164Gln) rs74358901 0.00232
NM_025074.7(FRAS1):c.10594A>G (p.Ile3532Val) rs144715071 0.00232
NM_080669.6(SLC46A1):c.1366C>T (p.Pro456Ser) rs186143284 0.00232
NM_182914.3(SYNE2):c.16743G>A (p.Thr5581=) rs138769395 0.00232
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) rs117195882 0.00231
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729 0.00231
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438 0.00231
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163 0.00231
NM_001378414.1(HDAC4):c.1809G>A (p.Glu603=) rs148813865 0.00231
NM_001853.4(COL9A3):c.755G>A (p.Arg252Gln) rs139573483 0.00231
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val) rs142062146 0.00231
NM_002615.7(SERPINF1):c.555G>A (p.Gln185=) rs34063250 0.00231
NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser) rs150236371 0.00231
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=) rs56329646 0.00231
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_001370298.3(FGD4):c.1296C>T (p.Phe432=) rs151083690 0.00230
NM_001715.3(BLK):c.674C>T (p.Pro225Leu) rs144592409 0.00230
NM_001852.4(COL9A2):c.1981C>A (p.Pro661Thr) rs140041506 0.00230
NM_002335.4(LRP5):c.2124G>A (p.Ser708=) rs140977837 0.00230
NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=) rs149172723 0.00230
NM_018714.3(COG1):c.1893C>T (p.Cys631=) rs80232475 0.00230
NM_025074.7(FRAS1):c.9553G>A (p.Gly3185Arg) rs202095663 0.00230
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340 0.00230
NM_144596.4(TTC8):c.299A>G (p.Asn100Ser) rs139392523 0.00230
NM_201384.3(PLEC):c.3778C>G (p.Arg1260Gly) rs151022876 0.00230
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_001048166.1(STIL):c.1024-4T>C rs188900275 0.00229
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn) rs144177566 0.00229
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231 0.00229
NM_001277115.2(DNAH11):c.4430T>C (p.Val1477Ala) rs72657320 0.00229
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val) rs61736002 0.00229
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=) rs61736186 0.00229
NM_018344.6(SLC29A3):c.128T>G (p.Leu43Arg) rs146764905 0.00229
NM_033109.5(PNPT1):c.122G>C (p.Ser41Thr) rs140796438 0.00229
NM_198525.3(KIF7):c.2335G>C (p.Glu779Gln) rs116823950 0.00229
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=) rs61754138 0.00228
NM_001035.3(RYR2):c.6555+6G>A rs372661934 0.00228
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432 0.00228
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631 0.00228
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238 0.00228
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_006059.4(LAMC3):c.3927+8C>G rs148008251 0.00228
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704 0.00228
NM_024747.6(HPS6):c.1779G>A (p.Pro593=) rs77529785 0.00228
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser) rs201733037 0.00228
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608 0.00227
NM_000540.3(RYR1):c.216G>T (p.Leu72=) rs113389877 0.00227
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00227
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr) rs189186475 0.00227
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) rs141010716 0.00227
NM_001256789.3(CACNA1F):c.5700T>C (p.Phe1900=) rs143269092 0.00227
NM_003179.3(SYP):c.687C>T (p.Ala229=) rs201427270 0.00227
NM_004260.4(RECQL4):c.891C>T (p.Asp297=) rs34700133 0.00227
NM_004393.6(DAG1):c.2036G>A (p.Arg679His) rs113904914 0.00227
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_001164508.2(NEB):c.6615C>G (p.Arg2205=) rs200018782 0.00226
NM_002335.4(LRP5):c.4209C>G (p.Val1403=) rs147671915 0.00226
NM_006059.4(LAMC3):c.3347C>G (p.Ala1116Gly) rs36028197 0.00226
NM_012092.4(ICOS):c.451G>C (p.Val151Leu) rs76778263 0.00226
NM_201384.3(PLEC):c.12642C>T (p.Ile4214=) rs111227648 0.00226
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=) rs75897848 0.00225
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met) rs201554140 0.00225
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217 0.00225
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591 0.00225
NM_001429.4(EP300):c.6636G>A (p.Gln2212=) rs142673005 0.00225
NM_004369.4(COL6A3):c.7400C>T (p.Ser2467Leu) rs111803773 0.00225
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660 0.00225
NM_015295.3(SMCHD1):c.424+10C>T rs201631086 0.00225
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val) rs142586585 0.00225
NM_021625.5(TRPV4):c.1824+4C>T rs147259744 0.00225
NM_153704.6(TMEM67):c.25G>A (p.Val9Met) rs199961375 0.00225
NM_182914.3(SYNE2):c.16095-10G>A rs139126909 0.00225
NM_201384.3(PLEC):c.11994C>T (p.Pro3998=) rs113137721 0.00225
NM_000426.4(LAMA2):c.8755C>T (p.Pro2919Ser) rs143026295 0.00224
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile) rs116105846 0.00224
NM_001289.6(CLIC2):c.478C>G (p.Pro160Ala) rs41304992 0.00224
NM_014319.5(LEMD3):c.2388-7C>T rs184015447 0.00224
NM_020717.5(SHROOM4):c.2192A>G (p.Glu731Gly) rs144727288 0.00224
NM_024809.5(TCTN2):c.-2G>A rs141768405 0.00224
NM_025193.4(HSD3B7):c.357C>T (p.Thr119=) rs117645456 0.00224
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu) rs114137983 0.00224
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=) rs74550830 0.00224
NM_000466.3(PEX1):c.934A>G (p.Ile312Val) rs146312634 0.00223
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925 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_003482.4(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661 0.00223
NM_004380.3(CREBBP):c.6003T>C (p.Asn2001=) rs200998860 0.00223
NM_004562.3(PRKN):c.1310C>T (p.Pro437Leu) rs149953814 0.00223
NM_005670.4(EPM2A):c.393G>A (p.Glu131=) rs61758155 0.00223
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) rs61735401 0.00223
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00223
NM_018418.5(SPATA7):c.366A>T (p.Leu122Phe) rs150093878 0.00223
NM_020320.5(RARS2):c.1410C>A (p.Leu470=) rs139564081 0.00223
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_000163.5(GHR):c.99C>G (p.Pro33=) rs76183160 0.00222
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser) rs141620200 0.00222
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863 0.00222
NM_000618.5(IGF1):c.156G>A (p.Thr52=) rs3729846 0.00222
NM_000744.7(CHRNA4):c.1353G>A (p.Pro451=) rs113168860 0.00222
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) rs139687326 0.00222
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) rs138576504 0.00222
NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr) rs199727372 0.00222
NM_001374353.1(GLI2):c.3298G>T (p.Val1100Leu) rs147580961 0.00222
NM_004621.6(TRPC6):c.1818T>C (p.Ser606=) rs139187399 0.00222
NM_004984.4(KIF5A):c.1293+9G>A rs201749114 0.00222
NM_005219.5(DIAPH1):c.1407T>C (p.Ile469=) rs75860159 0.00222
NM_006017.3(PROM1):c.1977C>T (p.Asn659=) rs149028760 0.00222
NM_022464.5(SIL1):c.1351G>A (p.Gly451Ser) rs34214251 0.00222
NM_024747.6(HPS6):c.337C>T (p.Arg113Trp) rs371307947 0.00222
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241 0.00222
NM_001039141.3(TRIOBP):c.2149C>G (p.Gln717Glu) rs186620158 0.00221
NM_001851.6(COL9A1):c.1089+9C>G rs142247988 0.00221
NM_002334.4(LRP4):c.1494C>T (p.Asn498=) rs61749083 0.00221
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) rs41278630 0.00221
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys) rs140308808 0.00221
NM_032119.4(ADGRV1):c.463A>G (p.Ile155Val) rs199873924 0.00221
NM_198999.3(SLC26A5):c.1813A>G (p.Thr605Ala) rs142849754 0.00221
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=) rs150638770 0.00220
NM_000089.4(COL1A2):c.594+5A>T rs200744314 0.00220
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 0.00220
NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn) rs113870881 0.00220
NM_001044385.3(TMEM237):c.136+8G>A rs200618675 0.00220
NM_001048166.1(STIL):c.3581C>T (p.Pro1194Leu) rs144746030 0.00220
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro) rs558064127 0.00220
NM_001303.4(COX10):c.929-7C>T rs62052075 0.00220
NM_002334.4(LRP4):c.1048+7G>T rs148557097 0.00220
NM_002529.4(NTRK1):c.254G>A (p.Arg85His) rs79678945 0.00220
NM_003664.5(AP3B1):c.2730T>C (p.Thr910=) rs143527588 0.00220
NM_004369.4(COL6A3):c.1688A>G (p.Asp563Gly) rs112913396 0.00220
NM_005529.7(HSPG2):c.9789C>A (p.Leu3263=) rs137921473 0.00220
NM_005802.5(TOPORS):c.1560A>G (p.Gln520=) rs61756347 0.00220
NM_014336.5(AIPL1):c.516T>C (p.His172=) rs62637017 0.00220
NM_020247.5(COQ8A):c.618G>A (p.Val206=) rs115855910 0.00220
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu) rs150563155 0.00220
NM_032273.4(TMEM126A):c.96T>G (p.Leu32=) rs36100288 0.00220
NM_133642.5(LARGE1):c.210C>T (p.Arg70=) rs145048151 0.00220
NM_147127.5(EVC2):c.2151C>T (p.His717=) rs144584049 0.00220
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser) rs143960329 0.00220
NM_183050.4(BCKDHB):c.742+16A>G rs140373763 0.00220
NM_000019.4(ACAT1):c.60G>C (p.Arg20=) rs77311724 0.00219
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_001004334.4(GPR179):c.5019C>G (p.Thr1673=) rs182907807 0.00219
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) rs76337075 0.00219
NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr) rs138506461 0.00219
NM_001377.3(DYNC2H1):c.9254C>T (p.Ala3085Val) rs202071528 0.00219
NM_052859.4(RFT1):c.382C>T (p.Leu128Phe) rs140127085 0.00219
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299 0.00219
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg) rs34969857 0.00218
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821 0.00218
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171 0.00218
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His) rs114711705 0.00218
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser) rs140666848 0.00218
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=) rs202043044 0.00218
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599 0.00218
NM_003680.4(YARS1):c.52C>T (p.Leu18=) rs147538442 0.00218
NM_005045.4(RELN):c.9321C>T (p.Leu3107=) rs150387973 0.00218
NM_017433.5(MYO3A):c.1559C>T (p.Ala520Val) rs72787346 0.00218
NM_201384.3(PLEC):c.6069C>G (p.Arg2023=) rs376365984 0.00218
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) rs11466018 0.00217
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236 0.00217
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544 0.00217
NM_001128225.3(SLC39A13):c.439C>G (p.Gln147Glu) rs148291843 0.00217
NM_001305581.2(LRMDA):c.193C>T (p.Leu65=) rs147768808 0.00217
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser) rs139539448 0.00217
NM_004380.3(CREBBP):c.4822C>A (p.Pro1608Thr) rs73491901 0.00217
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=) rs73491896 0.00217
NM_004463.3(FGD1):c.2268C>T (p.Cys756=) rs61734178 0.00217
NM_005506.4(SCARB2):c.445G>A (p.Val149Met) rs147159813 0.00217
NM_005633.4(SOS1):c.1230G>A (p.Gln410=) rs141390073 0.00217
NM_006204.4(PDE6C):c.1104A>G (p.Glu368=) rs145836229 0.00217
NM_006514.4(SCN10A):c.1453C>T (p.Arg485Cys) rs151153639 0.00217
NM_012301.4(MAGI2):c.900A>G (p.Glu300=) rs111635934 0.00217
NM_018136.5(ASPM):c.1717C>T (p.Arg573Trp) rs144049904 0.00217
NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly) rs45540031 0.00217
NM_182961.4(SYNE1):c.8230C>A (p.Gln2744Lys) rs145195048 0.00217
NM_201525.4(ADGRG1):c.174C>T (p.Ile58=) rs140963173 0.00217
NM_000152.5(GAA):c.2647-8C>T rs139201641 0.00216
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946 0.00216
NM_001080414.4(CCDC88C):c.5242G>A (p.Gly1748Arg) rs200543687 0.00216
NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe) rs140639805 0.00216
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu) rs201060500 0.00216
NM_001199397.3(NEK1):c.782G>A (p.Arg261His) rs200161705 0.00216
NM_001256789.3(CACNA1F):c.3651C>T (p.Val1217=) rs150205903 0.00216
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys) rs72646861 0.00216
NM_001365536.1(SCN9A):c.3506A>C (p.Asn1169Thr) rs151241025 0.00216
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804 0.00216
NM_004463.3(FGD1):c.1617G>A (p.Pro539=) rs151184308 0.00216
NM_005732.4(RAD50):c.2670G>A (p.Gln890=) rs112241748 0.00216
NM_139125.4(MASP1):c.1521G>A (p.Thr507=) rs139497497 0.00216
NM_173630.4(RTTN):c.4193C>T (p.Thr1398Met) rs62089120 0.00216
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) rs34596189 0.00216
NM_000451.4(SHOX):c.864G>A (p.Glu288=) rs781656634 0.00215
NM_000784.4(CYP27A1):c.1505C>A (p.Ala502Asp) rs140842830 0.00215
NM_001083961.2(WDR62):c.4312-5T>G rs182467995 0.00215
NM_001126121.2(SLC25A19):c.483C>T (p.Ala161=) rs142281464 0.00215
NM_001166114.2(PNPLA6):c.173T>C (p.Val58Ala) rs188353745 0.00215
NM_001177316.2(SLC34A3):c.1454G>A (p.Arg485His) rs138872455 0.00215
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val) rs181295720 0.00215
NM_001267550.2(TTN):c.32367G>A (p.Lys10789=) rs79232842 0.00215
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=) rs61757111 0.00215
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00215
NM_001493.3(GDI1):c.324C>T (p.Ser108=) rs2230286 0.00215
NM_004447.6(EPS8):c.1876C>A (p.Pro626Thr) rs142733590 0.00215
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile) rs74360232 0.00215
NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val) rs2066520 0.00215
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=) rs146810749 0.00215
NM_152564.5(VPS13B):c.10744A>G (p.Ile3582Val) rs145547375 0.00215
NM_000112.4(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171 0.00214
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe) rs72653756 0.00214
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=) rs370286749 0.00214
NM_001851.6(COL9A1):c.138G>A (p.Lys46=) rs139361722 0.00214
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser) rs139691746 0.00214
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp) rs77021998 0.00214
NM_144631.6(ZNF513):c.781G>A (p.Val261Met) rs61742428 0.00214
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141 0.00213
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266 0.00213
NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile) rs137956605 0.00213
NM_000466.3(PEX1):c.473-3C>T rs150576000 0.00213
NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly) rs143093165 0.00213
NM_006005.3(WFS1):c.712+16G>A rs71524367 0.00213
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=) rs61755436 0.00213
NM_018699.4(PRDM5):c.1283-5C>T rs185134294 0.00213
NM_018943.3(TUBA8):c.1334A>T (p.Glu445Val) rs138073466 0.00213
NM_020223.4(FAM20C):c.1681G>A (p.Val561Met) rs145750007 0.00213
NM_024301.5(FKRP):c.1440C>T (p.Asn480=) rs115365212 0.00213
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro) rs41268014 0.00213
NM_152564.5(VPS13B):c.5501C>T (p.Ser1834Leu) rs144257406 0.00213
NM_000094.4(COL7A1):c.5910C>T (p.Phe1970=) rs141290741 0.00212
NM_000321.3(RB1):c.2212-15A>G rs372815788 0.00212
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_001277115.2(DNAH11):c.13076G>A (p.Arg4359Gln) rs113653972 0.00212
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=) rs180787556 0.00212
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile) rs140042576 0.00212
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239 0.00212
NM_022039.4(FBXW4):c.457G>A (p.Gly153Arg) rs116070021 0.00212
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428 0.00212
NM_080680.3(COL11A2):c.4041G>A (p.Pro1347=) rs139283268 0.00212
NM_147127.5(EVC2):c.463T>C (p.Ser155Pro) rs143388379 0.00212
NM_000182.5(HADHA):c.-1G>T rs72809666 0.00211
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn) rs55858252 0.00211
NM_001035.3(RYR2):c.6555+8C>T rs1759122 0.00211
NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=) rs77570029 0.00211
NM_001044385.3(TMEM237):c.194A>G (p.Asn65Ser) rs141817764 0.00211
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470 0.00211
NM_001128178.3(NPHP1):c.133A>C (p.Ile45Leu) rs145479679 0.00211
NM_001292063.2(OTOG):c.6893G>A (p.Arg2298His) rs142799217 0.00211
NM_004006.3(DMD):c.31+36946C>T rs186833917 0.00211
NM_004465.2(FGF10):c.97G>A (p.Val33Ile) rs145373611 0.00211
NM_004817.4(TJP2):c.698G>A (p.Arg233Gln) rs150883816 0.00211
NM_017946.4(FKBP14):c.495G>A (p.Lys165=) rs142474407 0.00211
NM_018979.4(WNK1):c.2490G>A (p.Pro830=) rs79816263 0.00211
NM_133379.5(TTN):c.11849T>C (p.Ile3950Thr) rs72647897 0.00211
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser) rs142021049 0.00211
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys) rs147559466 0.00210
NM_000336.3(SCNN1B):c.1731C>T (p.Thr577=) rs61759923 0.00210
NM_001145809.2(MYH14):c.3079C>T (p.Leu1027=) rs113152264 0.00210
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn) rs116134953 0.00210
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616 0.00210
NM_001378609.3(OTOGL):c.3255T>C (p.Thr1085=) rs138823379 0.00210
NM_001849.4(COL6A2):c.1671+9C>T rs186428044 0.00210
NM_004625.4(WNT7A):c.861G>A (p.Val287=) rs149962459 0.00210
NM_004637.6(RAB7A):c.423C>G (p.Ala141=) rs61758751 0.00210
NM_005413.4(SIX3):c.109G>T (p.Gly37Cys) rs199823175 0.00210
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg) rs137973321 0.00210
NM_014141.6(CNTNAP2):c.551-11T>G rs78223661 0.00210
NM_018100.4(EFHC1):c.1155C>T (p.Asn385=) rs115913738 0.00210
NM_020549.5(CHAT):c.438C>T (p.Tyr146=) rs61731734 0.00210
NM_170707.4(LMNA):c.1761G>A (p.Leu587=) rs80356813 0.00210
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254 0.00209
NM_000548.5(TSC2):c.4908C>T (p.Asp1636=) rs115200071 0.00209
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=) rs1051360 0.00209
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=) rs138240658 0.00209
NM_001384140.1(PCDH15):c.343G>A (p.Val115Met) rs143570915 0.00209
NM_005609.4(PYGM):c.577G>T (p.Ala193Ser) rs77656150 0.00209
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_014491.4(FOXP2):c.552A>G (p.Gln184=) rs146945410 0.00209
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp) rs35859650 0.00208
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628 0.00208
NM_000455.5(STK11):c.464+9G>A rs376313955 0.00208
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000540.3(RYR1):c.2121C>A (p.Gly707=) rs146104858 0.00208
NM_000744.7(CHRNA4):c.1143C>T (p.Ala381=) rs75221202 0.00208
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00208
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala) rs182491843 0.00208
NM_001384140.1(PCDH15):c.4671+1109C>T rs145418788 0.00208
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877 0.00208
NM_004456.5(EZH2):c.1852-6C>T rs78589034 0.00208
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter) rs61752842 0.00208
NM_005592.4(MUSK):c.666T>C (p.Asn222=) rs56044404 0.00208
NM_006493.4(CLN5):c.-99G>C rs202118652 0.00208
NM_201253.3(CRB1):c.2306G>A (p.Arg769His) rs62636287 0.00208
NM_000168.6(GLI3):c.3664C>T (p.Pro1222Ser) rs118149040 0.00207
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr) rs147012990 0.00207
NM_001378452.1(ITPR1):c.1886+7C>T rs181465598 0.00207
NM_001849.4(COL6A2):c.1333-10C>G rs199513044 0.00207
NM_001851.6(COL9A1):c.904G>A (p.Gly302Ser) rs151129325 0.00207
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) rs61889560 0.00207
NM_005422.4(TECTA):c.1812C>T (p.Ser604=) rs138914618 0.00207
NM_018136.5(ASPM):c.8255T>G (p.Met2752Arg) rs148328539 0.00207
NM_147127.5(EVC2):c.18C>T (p.Ser6=) rs556910528 0.00207
NM_172107.4(KCNQ2):c.*4G>A rs1801508 0.00207
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg) rs60103800 0.00206
NM_000426.4(LAMA2):c.411G>A (p.Ala137=) rs149347601 0.00206
NM_000540.3(RYR1):c.12283-7C>T rs143861818 0.00206
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) rs72650019 0.00206
NM_001267550.2(TTN):c.87707-4G>T rs201770959 0.00206
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_004380.3(CREBBP):c.293G>T (p.Gly98Val) rs141982003 0.00206
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00206
NM_020436.5(SALL4):c.2483C>T (p.Thr828Met) rs147158259 0.00206
NM_022124.6(CDH23):c.5871C>G (p.Pro1957=) rs368122233 0.00206
NM_022455.5(NSD1):c.4520C>T (p.Thr1507Met) rs144900277 0.00206
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=) rs76881473 0.00206
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser) rs139738333 0.00205
NM_000346.4(SOX9):c.685+8G>A rs117696751 0.00205
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155 0.00205
NM_001042545.2(LTBP4):c.3129C>T (p.Val1043=) rs78745792 0.00205
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile) rs11900987 0.00205
NM_001277313.2(FMN1):c.3001C>T (p.Pro1001Ser) rs199592529 0.00205
NM_001369.3(DNAH5):c.9355A>G (p.Lys3119Glu) rs76690956 0.00205
NM_001371623.1(TCOF1):c.3712G>A (p.Ala1238Thr) rs137960641 0.00205
NM_001378609.3(OTOGL):c.3069A>G (p.Gln1023=) rs144125797 0.00205
NM_001379270.1(CNGA1):c.1031A>G (p.Lys344Arg) rs140419673 0.00205
NM_001852.4(COL9A2):c.1551C>T (p.Gly517=) rs140697524 0.00205
NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser) rs151271754 0.00205
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys) rs150278938 0.00205
NM_004366.6(CLCN2):c.218G>A (p.Arg73His) rs144412275 0.00205
NM_005559.4(LAMA1):c.2989C>T (p.Pro997Ser) rs148593258 0.00205
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995 0.00205
NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser) rs115299472 0.00205
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_032119.4(ADGRV1):c.11568T>C (p.Val3856=) rs143004930 0.00205
NM_182961.4(SYNE1):c.3120T>A (p.Thr1040=) rs147176678 0.00205
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) rs61733680 0.00204
NM_000071.3(CBS):c.939G>A (p.Thr313=) rs2228298 0.00204
NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln) rs77080672 0.00204
NM_000452.3(SLC10A2):c.762-3T>C rs190734512 0.00204
NM_001126121.2(SLC25A19):c.797T>G (p.Met266Arg) rs148372053 0.00204
NM_001191061.2(SLC25A22):c.169G>A (p.Val57Ile) rs150242281 0.00204
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr) rs55837610 0.00204
NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr) rs148261539 0.00204
NM_004260.4(RECQL4):c.565G>A (p.Gly189Ser) rs34371341 0.00204
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) rs115346085 0.00204
NM_207361.6(FREM2):c.9113T>C (p.Val3038Ala) rs114688149 0.00204
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_001035.3(RYR2):c.10324-4A>G rs72751287 0.00203
NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val) rs140528529 0.00203
NM_001128178.3(NPHP1):c.771+59G>A rs143174377 0.00203
NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu) rs149478199 0.00203
NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser) rs72648245 0.00203
NM_001457.4(FLNB):c.1472T>C (p.Met491Thr) rs147575358 0.00203
NM_002900.3(RBP3):c.843C>T (p.Pro281=) rs35186791 0.00203
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) rs148378319 0.00203
NM_014639.4(SKIC3):c.3940G>A (p.Glu1314Lys) rs74664147 0.00203
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=) rs114827737 0.00203
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser) rs145277501 0.00203
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) rs138410949 0.00203
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489 0.00203
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_000540.3(RYR1):c.2677G>A (p.Gly893Ser) rs147336515 0.00202
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892 0.00202
NM_000601.6(HGF):c.1008G>A (p.Glu336=) rs148714837 0.00202
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232 0.00202
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu) rs75686037 0.00202
NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=) rs144780536 0.00202
NM_004407.4(DMP1):c.815G>A (p.Arg272His) rs145237146 0.00202
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile) rs138232538 0.00202
NM_015910.7(WDPCP):c.385C>G (p.Leu129Val) rs191796211 0.00202
NM_032119.4(ADGRV1):c.14943G>C (p.Gln4981His) rs200153555 0.00202
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu) rs121908108 0.00202
NM_000452.3(SLC10A2):c.516C>T (p.Leu172=) rs114146899 0.00201
NM_000463.3(UGT1A1):c.540A>G (p.Glu180=) rs148755655 0.00201
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg) rs200662010 0.00201
NM_000860.6(HPGD):c.93+1_93+3dup rs70947447 0.00201
NM_001267550.2(TTN):c.46693G>T (p.Ala15565Ser) rs145520397 0.00201
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala) rs34018205 0.00201
NM_012232.6(CAVIN1):c.356T>A (p.Val119Asp) rs146547678 0.00201
NM_015295.3(SMCHD1):c.1956+7C>T rs145755468 0.00201
NM_033337.3(CAV3):c.-1G>A rs74377241 0.00201
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557 0.00201
NC_000007.14:g.117479634A>G rs185028612 0.00200
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_000744.7(CHRNA4):c.1047G>A (p.Leu349=) rs75593857 0.00200
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00200
NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys) rs116426399 0.00200
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621 0.00200
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=) rs149371169 0.00200
NM_001267550.2(TTN):c.69412+10G>C rs72646883 0.00200
NM_001292063.2(OTOG):c.7650C>T (p.Ile2550=) rs187445787 0.00200
NM_001848.3(COL6A1):c.1298G>A (p.Arg433Gln) rs151158105 0.00200
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436 0.00200
NM_003072.5(SMARCA4):c.4768+10G>A rs201665695 0.00200
NM_003482.4(KMT2D):c.6752C>T (p.Ser2251Leu) rs189199944 0.00200
NM_014336.5(AIPL1):c.1006G>A (p.Ala336Thr) rs143092701 0.00200
NM_014639.4(SKIC3):c.3207G>C (p.Glu1069Asp) rs143346257 0.00200
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His) rs183885357 0.00200
NM_133379.5(TTN):c.13347A>G (p.Ile4449Met) rs144539321 0.00200
NM_201384.3(PLEC):c.5653G>A (p.Ala1885Thr) rs201070741 0.00200
NM_203486.3(DLL3):c.390G>A (p.Glu130=) rs113780398 0.00200
NM_000082.4(ERCC8):c.839C>A (p.Thr280Lys) rs61754098 0.00199
NM_000095.3(COMP):c.218-15C>A rs542886784 0.00199
NM_000153.4(GALC):c.525C>T (p.Val175=) rs181066089 0.00199
NM_000329.3(RPE65):c.675C>G (p.Ile225Met) rs114379164 0.00199
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met) rs138509553 0.00199
NM_006329.4(FBLN5):c.376G>A (p.Val126Met) rs61734479 0.00199
NM_133379.5(TTN):c.10917C>T (p.Gly3639=) rs140804168 0.00199
NM_170699.3(GPBAR1):c.636C>T (p.Ser212=) rs150118963 0.00199
NM_182914.3(SYNE2):c.18039-5T>A rs189611387 0.00199
NM_194318.4(B3GLCT):c.271-8T>C rs183322816 0.00199
NM_000168.6(GLI3):c.840C>G (p.Ser280=) rs77084911 0.00198
NM_000326.5(RLBP1):c.817C>T (p.Leu273Phe) rs140570189 0.00198
NM_000363.5(TNNI3):c.273G>A (p.Ala91=) rs75491697 0.00198
NM_001374385.1(ATP8B1):c.189A>G (p.Thr63=) rs35377845 0.00198
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn) rs114314967 0.00198
NM_001844.5(COL2A1):c.2046C>T (p.Asp682=) rs41263851 0.00198
NM_004006.3(DMD):c.10087-20C>T rs41303187 0.00198
NM_004958.4(MTOR):c.663C>G (p.Thr221=) rs112439072 0.00198
NM_006129.5(BMP1):c.1170G>T (p.Ala390=) rs76021885 0.00198
NM_022436.3(ABCG5):c.1284C>T (p.Gly428=) rs143972075 0.00198
NM_133379.5(TTN):c.10648C>T (p.Arg3550Trp) rs141407971 0.00198
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys) rs149522482 0.00198
NM_000080.4(CHRNE):c.1425C>T (p.Leu475=) rs151193377 0.00197
NM_000260.4(MYO7A):c.3750+9G>A rs111033252 0.00197
NM_000540.3(RYR1):c.271-7C>G rs192495718 0.00197
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys) rs200378865 0.00197
NM_001371623.1(TCOF1):c.3426C>T (p.Ser1142=) rs138291748 0.00197
NM_001378609.3(OTOGL):c.3356T>C (p.Ile1119Thr) rs150426222 0.00197
NM_003742.4(ABCB11):c.127G>A (p.Val43Ile) rs183406496 0.00197
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln) rs146321088 0.00197
NM_006005.3(WFS1):c.227G>T (p.Gly76Val) rs200135768 0.00197
NM_007317.3(KIF22):c.1780G>A (p.Asp594Asn) rs146561986 0.00197
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_014780.5(CUL7):c.4914C>T (p.Asp1638=) rs61731584 0.00197
NM_181303.2(NLGN3):c.1954A>G (p.Thr652Ala) rs144914894 0.00197
NM_000053.4(ATP7B):c.3060+16G>T rs76163470 0.00196
NM_001015880.2(PAPSS2):c.861A>G (p.Leu287=) rs150727538 0.00196
NM_001127255.2(NLRP7):c.2094C>T (p.His698=) rs104895524 0.00196
NM_001330260.2(SCN8A):c.141C>T (p.Asp47=) rs149013279 0.00196
NM_001330677.2(TBX15):c.837A>G (p.Thr279=) rs140670116 0.00196
NM_001918.5(DBT):c.1418A>G (p.Asn473Ser) rs75525811 0.00196
NM_014639.4(SKIC3):c.2578-10T>C rs140254019 0.00196
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val) rs139619013 0.00196
NM_017739.4(POMGNT1):c.236-13T>C rs150578902 0.00196
NM_022455.5(NSD1):c.2295C>T (p.Asn765=) rs146767413 0.00196
NM_054027.6(ANKH):c.102G>A (p.Leu34=) rs116591972 0.00196
NM_201525.4(ADGRG1):c.1017+8G>A rs186479054 0.00196
NM_206937.2(LIG4):c.686A>G (p.His229Arg) rs142957638 0.00196
NM_212550.5(BLOC1S3):c.478G>T (p.Val160Leu) rs201502372 0.00196
NM_001042472.3(ABHD12):c.1141C>T (p.Leu381=) rs142709197 0.00195
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873 0.00195
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly) rs202085918 0.00195
NM_001848.3(COL6A1):c.2250+6G>C rs202212586 0.00195
NM_001852.4(COL9A2):c.312C>T (p.Pro104=) rs144072834 0.00195
NM_002335.4(LRP5):c.4089C>T (p.Asp1363=) rs3736229 0.00195
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp) rs139134727 0.00195
NM_003482.4(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011 0.00195
NM_003482.4(KMT2D):c.5220C>T (p.Ala1740=) rs200369026 0.00195
NM_005529.7(HSPG2):c.4627-3del rs368983547 0.00195
NM_006031.6(PCNT):c.9700+10C>T rs199917135 0.00195
NM_006790.3(MYOT):c.822T>C (p.Ser274=) rs138678049 0.00195
NM_012418.4(FSCN2):c.1092C>T (p.Ile364=) rs188142101 0.00195
NM_014008.5(CCDC22):c.715G>A (p.Glu239Lys) rs199809018 0.00195
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=) rs61742381 0.00195
NM_032119.4(ADGRV1):c.10126A>G (p.Ile3376Val) rs200528472 0.00195
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr) rs145556097 0.00195
NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala) rs190922596 0.00195
NM_153717.3(EVC):c.8G>C (p.Arg3Pro) rs756852655 0.00195
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser) rs144762960 0.00195
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=) rs61729497 0.00194
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373 0.00194
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455 0.00194
NM_000388.4(CASR):c.2730C>A (p.Pro910=) rs34200949 0.00194
NM_000391.4(TPP1):c.688-7T>A rs375262484 0.00194
NM_001004334.4(GPR179):c.959G>A (p.Arg320Gln) rs189931659 0.00194
NM_001010892.3(RSPH4A):c.2101G>C (p.Glu701Gln) rs140660854 0.00194
NM_001048166.1(STIL):c.1069G>A (p.Ala357Thr) rs75426387 0.00194
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=) rs142381345 0.00194
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile) rs144930507 0.00194
NM_001364905.1(LRBA):c.*9G>T rs150102345 0.00194
NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=) rs140210015 0.00194
NM_001848.3(COL6A1):c.324C>T (p.Gly108=) rs138646508 0.00194
NM_002335.4(LRP5):c.1968C>T (p.His656=) rs144847027 0.00194
NM_002693.3(POLG):c.1174C>G (p.Leu392Val) rs145289229 0.00194
NM_016356.5(DCDC2):c.1208G>A (p.Arg403His) rs139858268 0.00194
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) rs61731920 0.00194
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=) rs75091137 0.00194
NM_152564.5(VPS13B):c.11619G>C (p.Val3873=) rs113454700 0.00194
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_153717.3(EVC):c.93C>G (p.Ala31=) rs866226288 0.00194
NM_181486.4(TBX5):c.114C>T (p.Ser38=) rs34014008 0.00194
NM_182961.4(SYNE1):c.23461-6A>C rs145098375 0.00194
NM_207361.6(FREM2):c.84C>G (p.Pro28=) rs141718695 0.00194
NM_000152.5(GAA):c.676C>G (p.Leu226Val) rs113085339 0.00193
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_000429.3(MAT1A):c.789C>T (p.Gly263=) rs61734475 0.00193
NM_000553.6(WRN):c.2983G>A (p.Ala995Thr) rs140768346 0.00193
NM_000642.3(AGL):c.3203A>G (p.Tyr1068Cys) rs147165298 0.00193
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214 0.00193
NM_001128225.3(SLC39A13):c.539C>G (p.Ala180Gly) rs147227015 0.00193
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln) rs72648969 0.00193
NM_001267550.2(TTN):c.98439G>A (p.Val32813=) rs368487246 0.00193
NM_001377.3(DYNC2H1):c.7128A>G (p.Ala2376=) rs371410128 0.00193
NM_002473.6(MYH9):c.3485+8C>T rs149559551 0.00193
NM_006261.5(PROP1):c.425C>T (p.Ala142Val) rs143790367 0.00193
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=) rs56107171 0.00193
NM_024757.5(EHMT1):c.480C>T (p.Gly160=) rs150135875 0.00193
NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu) rs149978500 0.00193
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850 0.00192
NM_000093.5(COL5A1):c.378G>T (p.Gln126His) rs145178917 0.00192
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met) rs141202530 0.00192
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) rs147641443 0.00192
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly) rs201167067 0.00192
NM_004813.4(PEX16):c.204G>T (p.Glu68Asp) rs149348130 0.00192
NM_020223.4(FAM20C):c.252C>A (p.Asn84Lys) rs190382829 0.00192
NM_032119.4(ADGRV1):c.12527+6G>T rs141701016 0.00192
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_000193.4(SHH):c.869G>A (p.Gly290Asp) rs104894047 0.00191
NM_000392.5(ABCC2):c.159A>G (p.Lys53=) rs17222596 0.00191
NM_001034853.2(RPGR):c.732G>A (p.Lys244=) rs62638654 0.00191
NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=) rs113380721 0.00191
NM_004994.3(MMP9):c.886G>A (p.Gly296Ser) rs144098289 0.00191
NM_005477.3(HCN4):c.3587G>A (p.Arg1196His) rs147181577 0.00191
NM_005670.4(EPM2A):c.719-4G>A rs145030227 0.00191
NM_015909.4(NBAS):c.5090G>T (p.Arg1697Leu) rs145318018 0.00191
NM_016239.4(MYO15A):c.4033A>T (p.Ile1345Leu) rs201234482 0.00191
NM_021072.4(HCN1):c.2172C>T (p.Ala724=) rs56217199 0.00191
NM_024596.5(MCPH1):c.182A>G (p.Asp61Gly) rs61749465 0.00191
NM_031427.4(DNAL1):c.415C>G (p.Leu139Val) rs141873943 0.00191
NM_058246.4(DNAJB6):c.279C>T (p.Phe93=) rs149278319 0.00191
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser) rs148939995 0.00191
NM_182961.4(SYNE1):c.4596C>T (p.Tyr1532=) rs138264334 0.00191
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) rs141235641 0.00191
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) rs149287302 0.00190
NM_000363.5(TNNI3):c.550-10C>T rs201240150 0.00190
NM_000384.3(APOB):c.751G>A (p.Ala251Thr) rs61741625 0.00190
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970 0.00190
NM_000551.4(VHL):c.340+5G>C rs61758376 0.00190
NM_001102608.3(COL6A6):c.4300G>T (p.Gly1434Ter) rs140872639 0.00190
NM_001127649.3(PEX26):c.325T>C (p.Tyr109His) rs45567240 0.00190
NM_001605.3(AARS1):c.2521-3C>T rs200586605 0.00190
NM_003647.3(DGKE):c.1679A>G (p.Gln560Arg) rs61751972 0.00190
NM_004727.3(SLC24A1):c.2778C>T (p.Pro926=) rs117685425 0.00190
NM_005045.4(RELN):c.8120-9T>C rs74952625 0.00190
NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly) rs145164937 0.00190
NM_022455.5(NSD1):c.1149C>T (p.Ile383=) rs34921128 0.00190
NM_024757.5(EHMT1):c.3735C>T (p.Arg1245=) rs141797498 0.00190
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=) rs146462407 0.00190
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255 0.00190
NM_000096.4(CP):c.2571C>T (p.Tyr857=) rs151304828 0.00189
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060 0.00189
NM_000381.4(MID1):c.588C>G (p.Ala196=) rs41303167 0.00189
NM_001110792.2(MECP2):c.618C>T (p.Ser206=) rs61749711 0.00189
NM_001195263.2(PDZD7):c.2719-9C>A rs184247824 0.00189
NM_001267550.2(TTN):c.5823A>G (p.Arg1941=) rs149668487 0.00189
NM_001267550.2(TTN):c.66977A>G (p.Lys22326Arg) rs202125813 0.00189
NM_001360.3(DHCR7):c.321+10C>T rs377108406 0.00189
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_001377.3(DYNC2H1):c.5334+6G>A rs372964069 0.00189
NM_001927.4(DES):c.324G>A (p.Glu108=) rs138677215 0.00189
NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val) rs140899003 0.00189
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala) rs113498662 0.00189
NM_032578.4(MYPN):c.1563C>T (p.Tyr521=) rs77249928 0.00189
NM_144991.3(TSPEAR):c.343G>A (p.Asp115Asn) rs144586270 0.00189
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591 0.00188
NM_000071.3(CBS):c.954+8G>A rs76292057 0.00188
NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala) rs4253046 0.00188
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=) rs150378053 0.00188
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser) rs191692293 0.00188
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser) rs116572520 0.00188
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) rs142317580 0.00188
NM_001278116.2(L1CAM):c.3519C>T (p.Phe1173=) rs142277193 0.00188
NM_001371623.1(TCOF1):c.1028G>A (p.Ser343Asn) rs144327167 0.00188
NM_001854.4(COL11A1):c.3979-3T>C rs138464908 0.00188
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_005122.5(NR1I3):c.289C>T (p.Arg97Trp) rs34161743 0.00188
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln) rs140621959 0.00188
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp) rs142458572 0.00188
NM_014920.5(CILK1):c.1419T>C (p.Tyr473=) rs34168889 0.00188
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751 0.00188
NM_024426.6(WT1):c.123G>C (p.Pro41=) rs555140661 0.00188
NM_145691.4(ATPAF2):c.699C>T (p.Ala233=) rs143705642 0.00188
NM_152296.5(ATP1A3):c.154-5C>G rs191645384 0.00188
NM_152384.3(BBS5):c.750C>T (p.Ile250=) rs76138485 0.00188
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) rs140191346 0.00188
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile) rs149881695 0.00187
NM_001256715.2(DNAAF3):c.832G>A (p.Ala278Thr) rs200775946 0.00187
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile) rs199859344 0.00187
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val) rs35193202 0.00187
NM_002473.6(MYH9):c.165C>T (p.Ile55=) rs141948797 0.00187
NM_005957.5(MTHFR):c.1959G>A (p.Thr653=) rs45572531 0.00187
NM_017780.4(CHD7):c.8439C>T (p.Gly2813=) rs201132710 0.00187
NM_018965.4(TREM2):c.469C>T (p.His157Tyr) rs2234255 0.00187
NM_020549.5(CHAT):c.1248C>T (p.Asn416=) rs116071049 0.00187
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His) rs201214794 0.00187
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly) rs143191074 0.00187
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901 0.00187
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_000329.3(RPE65):c.978G>T (p.Val326=) rs61752907 0.00186
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682 0.00186
NM_000540.3(RYR1):c.297G>A (p.Thr99=) rs144241486 0.00186
NM_000709.4(BCKDHA):c.485-28G>A rs114178789 0.00186
NM_001384732.1(CPLANE1):c.5738-6C>T rs148634159 0.00186
NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu) rs185149177 0.00186
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015 0.00186
NM_000350.3(ABCA4):c.3626T>C (p.Met1209Thr) rs76258939 0.00185
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe) rs141798874 0.00185
NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr) rs182126530 0.00185
NM_001330260.2(SCN8A):c.2632C>T (p.Leu878=) rs372582842 0.00185
NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser) rs147674680 0.00185
NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu) rs199610834 0.00185
NM_005045.4(RELN):c.1377G>A (p.Arg459=) rs73712207 0.00185
NM_005413.4(SIX3):c.720G>T (p.Ala240=) rs191012035 0.00185
NM_005477.3(HCN4):c.3350C>T (p.Pro1117Leu) rs140402087 0.00185
NM_005529.7(HSPG2):c.2326G>A (p.Val776Met) rs145476116 0.00185
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_014780.5(CUL7):c.2645G>A (p.Arg882Gln) rs45574335 0.00185
NM_020822.3(KCNT1):c.3690C>T (p.Arg1230=) rs141521745 0.00185
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941 0.00185
NM_080680.3(COL11A2):c.2115+7T>C rs186051366 0.00185
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys) rs147587689 0.00185
NM_001089.3(ABCA3):c.954C>T (p.Ile318=) rs35161127 0.00184
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) rs149131555 0.00184
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp) rs28544073 0.00184
NM_001457.4(FLNB):c.6231C>T (p.Asp2077=) rs145280904 0.00184
NM_003611.3(OFD1):c.1654+8A>G rs200767363 0.00184
NM_015404.4(WHRN):c.1627-5T>A rs187221008 0.00184
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987 0.00184
NM_000208.4(INSR):c.1080C>T (p.Cys360=) rs56066516 0.00183
NM_000306.4(POU1F1):c.370A>G (p.Met124Val) rs143373007 0.00183
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=) rs147884766 0.00183
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys) rs111033255 0.00183
NM_000492.4(CFTR):c.1365G>A (p.Ala455=) rs79074685 0.00183
NM_001083961.2(WDR62):c.4338C>T (p.Thr1446=) rs149289227 0.00183
NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=) rs146747080 0.00183
NM_001195248.2(APTX):c.742T>A (p.Leu248Met) rs141195622 0.00183
NM_001378414.1(HDAC4):c.684G>A (p.Pro228=) rs144387989 0.00183
NM_006279.5(ST3GAL3):c.618C>T (p.Arg206=) rs115003742 0.00183
NM_006306.4(SMC1A):c.1323C>T (p.Tyr441=) rs144850468 0.00183
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=) rs142611198 0.00183
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=) rs80356851 0.00183
NM_012210.4(TRIM32):c.558G>C (p.Gln186His) rs117599771 0.00183
NM_016356.5(DCDC2):c.715T>G (p.Ser239Ala) rs144695853 0.00183
NM_017950.4(CCDC40):c.180G>A (p.Ala60=) rs185006459 0.00183
NM_024757.5(EHMT1):c.3016G>A (p.Val1006Met) rs33999936 0.00183
NM_030662.4(MAP2K2):c.580+6G>A rs201435249 0.00183
NM_032119.4(ADGRV1):c.15343C>T (p.Leu5115=) rs41304886 0.00183
NM_153676.4(USH1C):c.2014-1G>A rs150567427 0.00183
NM_201384.3(PLEC):c.4873G>A (p.Glu1625Lys) rs187338487 0.00183
NM_203288.2(RP9):c.34G>A (p.Ala12Thr) rs775870239 0.00183
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000093.5(COL5A1):c.4230+5C>T rs142248898 0.00182
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr) rs202215735 0.00182
NM_001083962.2(TCF4):c.73-3T>C rs148658897 0.00182
NM_001130823.3(DNMT1):c.150C>T (p.His50=) rs146112081 0.00182
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His) rs201979610 0.00182
NM_002181.4(IHH):c.873G>A (p.Arg291=) rs149554120 0.00182
NM_002335.4(LRP5):c.4380C>T (p.Ser1460=) rs11574420 0.00182
NM_003073.5(SMARCB1):c.1131T>C (p.Arg377=) rs144863210 0.00182
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=) rs145144233 0.00182
NM_006031.6(PCNT):c.5614G>A (p.Glu1872Lys) rs112853262 0.00182
NM_015311.3(OBSL1):c.375G>A (p.Glu125=) rs374656370 0.00182
NM_080680.3(COL11A2):c.4521G>A (p.Gln1507=) rs114580597 0.00182
NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile) rs200313391 0.00181
NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=) rs146512619 0.00181
NM_001128178.3(NPHP1):c.1270-4C>T rs151204566 0.00181
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn) rs184740744 0.00181
NM_001378414.1(HDAC4):c.2371G>A (p.Ala791Thr) rs61754648 0.00181
NM_002618.4(PEX13):c.355G>A (p.Val119Ile) rs147707348 0.00181
NM_004839.4(HOMER2):c.363C>T (p.Ile121=) rs11629943 0.00181
NM_014846.4(WASHC5):c.2771-7T>C rs142685897 0.00181
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638 0.00181
NM_173495.3(PTCHD1):c.657C>T (p.Asn219=) rs144982584 0.00181
NM_173660.5(DOK7):c.1278C>T (p.Pro426=) rs139468087 0.00181
NM_177965.4(CFAP418):c.512T>G (p.Ile171Arg) rs143893647 0.00181
NM_182914.3(SYNE2):c.20197G>A (p.Glu6733Lys) rs150172232 0.00181
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu) rs139029314 0.00181
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196 0.00180
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys) rs138731505 0.00180
NM_000539.3(RHO):c.480C>A (p.Thr160=) rs151063543 0.00180
NM_000540.3(RYR1):c.9555-9G>A rs149569999 0.00180
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425 0.00180
NM_001171.6(ABCC6):c.1263C>T (p.Thr421=) rs114179357 0.00180
NM_001278116.2(L1CAM):c.36C>A (p.Leu12=) rs140678848 0.00180
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919 0.00180
NM_001378414.1(HDAC4):c.2163G>A (p.Ser721=) rs61735030 0.00180
NM_001378414.1(HDAC4):c.222G>A (p.Glu74=) rs145137674 0.00180
NM_001853.4(COL9A3):c.1726G>A (p.Ala576Thr) rs116005499 0.00180
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu) rs141392048 0.00180
NM_004817.4(TJP2):c.2691C>T (p.Pro897=) rs149969431 0.00180
NM_005559.4(LAMA1):c.6354C>T (p.Val2118=) rs150849018 0.00180
NM_006662.3(SRCAP):c.132C>T (p.Gly44=) rs149628651 0.00180
NM_015087.5(SPART):c.361G>T (p.Asp121Tyr) rs146398746 0.00180
NM_133261.3(GIPC3):c.132G>C (p.Ala44=) rs80060313 0.00180
NM_182914.3(SYNE2):c.4286T>C (p.Leu1429Pro) rs150573158 0.00180
NM_182914.3(SYNE2):c.430C>G (p.Leu144Val) rs142000273 0.00180
NM_198239.2(CCN6):c.533A>T (p.Asn178Ile) rs35374349 0.00180
NM_000088.4(COL1A1):c.3531+10C>A rs41316721 0.00179
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163 0.00179
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661 0.00179
NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser) rs201884779 0.00179
NM_001127649.3(PEX26):c.409G>C (p.Val137Leu) rs142648687 0.00179
NM_001918.5(DBT):c.753C>T (p.Asp251=) rs79292123 0.00179
NM_005220.3(DLX3):c.710A>G (p.Tyr237Cys) rs142563930 0.00179
NM_005422.4(TECTA):c.701A>G (p.Gln234Arg) rs144682235 0.00179
NM_006204.4(PDE6C):c.2082G>A (p.Met694Ile) rs150112560 0.00179
NM_020427.3(SLURP1):c.310T>C (p.Ter104Arg) rs62636565 0.00179
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser) rs144200355 0.00179
NM_024301.5(FKRP):c.1179A>G (p.Val393=) rs145894568 0.00179
NM_130837.3(OPA1):c.1236A>G (p.Ala412=) rs150807064 0.00179
NM_000152.5(GAA):c.2332-12A>T rs200965268 0.00178
NM_000327.4(ROM1):c.812T>C (p.Met271Thr) rs137950927 0.00178
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024 0.00178
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000441.2(SLC26A4):c.416-7T>C rs111033387 0.00178
NM_000780.4(CYP7A1):c.38C>T (p.Ala13Val) rs147162838 0.00178
NM_001042413.2(GLIS3):c.232C>G (p.Arg78Gly) rs148168366 0.00178
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=) rs143944746 0.00178
NM_001145308.5(LRTOMT):c.397G>C (p.Ala133Pro) rs76657474 0.00178
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val) rs144215383 0.00178
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_001384474.1(LOXHD1):c.1617G>A (p.Met539Ile) rs143142227 0.00178
NM_001384474.1(LOXHD1):c.5169C>T (p.Tyr1723=) rs114736976 0.00178
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814 0.00178
NM_005787.6(ALG3):c.1271C>T (p.Pro424Leu) rs79144888 0.00178
NM_006059.4(LAMC3):c.1630+5C>G rs184221540 0.00178
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=) rs73541508 0.00178
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_032119.4(ADGRV1):c.14515C>G (p.Gln4839Glu) rs79464236 0.00178
NM_032119.4(ADGRV1):c.8088G>A (p.Leu2696=) rs373069459 0.00178
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542 0.00178
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) rs149146258 0.00178
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile) rs368468 0.00177
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435 0.00177
NM_000443.4(ABCB4):c.456G>A (p.Lys152=) rs147333055 0.00177
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_001369268.1(ACAN):c.4347C>T (p.Ser1449=) rs60790354 0.00177
NM_001374353.1(GLI2):c.1935G>A (p.Ser645=) rs114259687 0.00177
NM_001701.4(BAAT):c.843T>G (p.Ser281=) rs140793591 0.00177
NM_002900.3(RBP3):c.3062C>A (p.Ser1021Tyr) rs148591757 0.00177
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=) rs61759495 0.00177
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309 0.00177
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp) rs147458358 0.00177
NM_017780.4(CHD7):c.1179A>G (p.Pro393=) rs111238892 0.00177
NM_018136.5(ASPM):c.5940C>T (p.Tyr1980=) rs150642468 0.00177
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu) rs61744480 0.00177
NM_181426.2(CCDC39):c.2534T>C (p.Ile845Thr) rs139560004 0.00177
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491 0.00176
NM_000098.3(CPT2):c.341-16T>C rs180830030 0.00176
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896 0.00176
NM_000875.5(IGF1R):c.1532G>A (p.Arg511Gln) rs33958176 0.00176
NM_001083961.2(WDR62):c.3786C>T (p.Gly1262=) rs148415080 0.00176
NM_001161352.2(KCNMA1):c.2484+7G>A rs13377017 0.00176
NM_001614.5(ACTG1):c.985-5T>C rs370546734 0.00176
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=) rs34025424 0.00176
NM_013296.5(GPSM2):c.2043G>A (p.Ser681=) rs140949805 0.00176
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val) rs45521933 0.00176
NM_018418.5(SPATA7):c.729C>T (p.Arg243=) rs151338404 0.00176
NM_022124.6(CDH23):c.6713-8G>A rs369946986 0.00176
NM_031433.4(MFRP):c.773-9C>T rs187321874 0.00176
NM_173630.4(RTTN):c.3048G>A (p.Pro1016=) rs149233888 0.00176
NM_000287.4(PEX6):c.1171G>A (p.Glu391Lys) rs150046979 0.00175
NM_000426.4(LAMA2):c.1621A>G (p.Ser541Gly) rs141363186 0.00175
NM_000443.4(ABCB4):c.1893+6T>C rs8187798 0.00175
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322 0.00175
NM_001034852.3(SMOC1):c.230C>T (p.Pro77Leu) rs143606483 0.00175
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996 0.00175
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904 0.00175
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=) rs191846522 0.00175
NM_001165963.4(SCN1A):c.4548G>A (p.Ser1516=) rs78041051 0.00175
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=) rs199714102 0.00175
NM_001368894.2(PAX6):c.130C>A (p.Arg44=) rs141873759 0.00175
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720 0.00175
NM_001384732.1(CPLANE1):c.1411C>G (p.Leu471Val) rs139940282 0.00175
NM_004999.4(MYO6):c.2635G>A (p.Asp879Asn) rs60970824 0.00175
NM_005522.5(HOXA1):c.684A>G (p.Gln228=) rs34462126 0.00175
NM_005529.7(HSPG2):c.959-5C>T rs149574138 0.00175
NM_005609.4(PYGM):c.924C>T (p.Ile308=) rs139726186 0.00175
NM_006059.4(LAMC3):c.1520-6G>A rs192031352 0.00175
NM_012144.4(DNAI1):c.81+5del rs200411544 0.00175
NM_018941.4(CLN8):c.11C>T (p.Ala4Val) rs147181589 0.00175
NM_182943.3(PLOD2):c.1639T>C (p.Tyr547His) rs115199093 0.00175
NM_001353214.3(DYM):c.1717C>T (p.Leu573=) rs145279594 0.00174
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748 0.00174
NM_001854.4(COL11A1):c.52A>T (p.Thr18Ser) rs114630202 0.00174
NM_002181.4(IHH):c.1051G>A (p.Val351Met) rs143959492 0.00174
NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val) rs59190330 0.00174
NM_018451.5(CPAP):c.2992-18G>T rs67311635 0.00174
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=) rs113253213 0.00174
NM_201384.3(PLEC):c.3171G>A (p.Ser1057=) rs371271326 0.00174
NM_000268.4(NF2):c.1123-6C>T rs147898623 0.00173
NM_000392.5(ABCC2):c.4430C>T (p.Thr1477Met) rs142573385 0.00173
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met) rs117422805 0.00173
NM_001384474.1(LOXHD1):c.3090G>A (p.Thr1030=) rs113994614 0.00173
NM_001458.5(FLNC):c.7091G>A (p.Arg2364His) rs201672146 0.00173
NM_001849.4(COL6A2):c.3017C>T (p.Ala1006Val) rs113169531 0.00173
NM_001953.5(TYMP):c.1290G>A (p.Arg430=) rs570574111 0.00173
NM_002529.4(NTRK1):c.10G>A (p.Gly4Ser) rs556840308 0.00173
NM_002906.4(RDX):c.1487C>T (p.Ala496Val) rs74983220 0.00173
NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser) rs141235720 0.00173
NM_006486.3(FBLN1):c.1209C>T (p.Cys403=) rs140586412 0.00173
NM_012254.3(SLC27A5):c.1229G>A (p.Gly410Glu) rs149709084 0.00173
NM_018979.4(WNK1):c.3582G>A (p.Glu1194=) rs72650721 0.00173
NM_020754.4(ARHGAP31):c.349-7T>G rs200397968 0.00173
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His) rs143032801 0.00173
NM_144508.5(KNL1):c.5271C>T (p.Cys1757=) rs191249840 0.00173
NM_182943.3(PLOD2):c.-4G>A rs79161810 0.00173
NM_182961.4(SYNE1):c.20646G>A (p.Ser6882=) rs138628147 0.00173
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00172
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747 0.00172
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr) rs189966800 0.00172
NM_001366722.1(GRIP1):c.3207C>T (p.Pro1069=) rs187691546 0.00172
NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met) rs184458982 0.00172
NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His) rs77939839 0.00172
NM_001377.3(DYNC2H1):c.5047C>T (p.Leu1683Phe) rs201563576 0.00172
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) rs138544311 0.00172
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg) rs61736380 0.00172
NM_014639.4(SKIC3):c.1848A>G (p.Thr616=) rs145518834 0.00172
NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr) rs139633601 0.00172
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser) rs187864727 0.00172
NM_178857.6(RP1L1):c.899C>T (p.Ser300Leu) rs200642524 0.00172
NM_182914.3(SYNE2):c.9230C>T (p.Pro3077Leu) rs200742016 0.00172
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) rs149109801 0.00172
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met) rs56136489 0.00172
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00171
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00171
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_001277115.2(DNAH11):c.4001T>C (p.Ile1334Thr) rs72657309 0.00171
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294 0.00171
NM_002878.4(RAD51D):c.481-7G>A rs145832514 0.00171
NM_005802.5(TOPORS):c.814A>G (p.Ile272Val) rs115436019 0.00171
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491 0.00171
NM_153252.5(BRWD3):c.769G>A (p.Val257Ile) rs112829587 0.00171
NM_182961.4(SYNE1):c.20292T>C (p.Asp6764=) rs73619386 0.00171
NM_201384.3(PLEC):c.1042-4A>G rs112966803 0.00171
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644 0.00170
NM_000152.5(GAA):c.258C>A (p.Pro86=) rs146615896 0.00170
NM_000235.4(LIPA):c.756A>C (p.Ile252=) rs145037134 0.00170
NM_000391.4(TPP1):c.1497T>C (p.Pro499=) rs142672910 0.00170
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met) rs72773422 0.00170
NM_001083961.2(WDR62):c.2016C>T (p.Asp672=) rs114968951 0.00170
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser) rs45592239 0.00170
NM_001267550.2(TTN):c.104365G>A (p.Glu34789Lys) rs190565627 0.00170
NM_001364905.1(LRBA):c.2637G>A (p.Lys879=) rs138956153 0.00170
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser) rs61733140 0.00170
NM_001457.4(FLNB):c.6684C>T (p.Ile2228=) rs138416613 0.00170
NM_004625.4(WNT7A):c.555C>T (p.Asn185=) rs149363953 0.00170
NM_006662.3(SRCAP):c.5531C>G (p.Ser1844Cys) rs78037619 0.00170
NM_014363.6(SACS):c.2988A>G (p.Leu996=) rs111846884 0.00170
NM_014780.5(CUL7):c.2614G>A (p.Gly872Ser) rs61750320 0.00170
NM_018451.5(CPAP):c.1021T>G (p.Tyr341Asp) rs143258862 0.00170
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln) rs115113440 0.00170
NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln) rs2075164 0.00170
NM_030753.5(WNT3):c.429G>A (p.Ser143=) rs148902716 0.00170
NM_080632.3(UPF3B):c.1121G>A (p.Arg374His) rs143538947 0.00170
NM_152564.5(VPS13B):c.10052A>T (p.Asn3351Ile) rs111353525 0.00170
NM_153676.4(USH1C):c.674+4G>A rs202095395 0.00170
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) rs117360770 0.00170
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506 0.00170
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00169
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=) rs56077602 0.00169
NM_001853.4(COL9A3):c.468C>T (p.Pro156=) rs137979802 0.00169
NM_006996.3(SLC19A2):c.1322T>C (p.Ile441Thr) rs17847484 0.00169
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=) rs116541276 0.00169
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698 0.00169
NM_133379.5(TTN):c.14820G>A (p.Val4940=) rs145029589 0.00169
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu) rs148376885 0.00169
NM_213599.3(ANO5):c.2698A>C (p.Met900Leu) rs148293985 0.00169
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_001130987.2(DYSF):c.3403-10G>A rs116733194 0.00168
NM_001130987.2(DYSF):c.5058C>A (p.Leu1686=) rs141476432 0.00168
NM_001371986.1(UNC80):c.4141C>G (p.Pro1381Ala) rs192242889 0.00168
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=) rs373924055 0.00168
NM_001852.4(COL9A2):c.2019G>A (p.Ser673=) rs148008235 0.00168
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918 0.00168
NM_004727.3(SLC24A1):c.1131C>T (p.Thr377=) rs199504782 0.00168
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) rs138241615 0.00168
NM_012254.3(SLC27A5):c.1125C>T (p.Gly375=) rs144295671 0.00168
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg) rs147317123 0.00168
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His) rs35823417 0.00168
NM_016239.4(MYO15A):c.6785G>A (p.Arg2262His) rs200623501 0.00168
NM_020779.4(WDR35):c.2066G>A (p.Arg689His) rs74470618 0.00168
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445 0.00168
NM_080680.3(COL11A2):c.329G>A (p.Arg110Gln) rs145960317 0.00168
NM_177965.4(CFAP418):c.126G>C (p.Arg42=) rs115853053 0.00168
NM_001848.3(COL6A1):c.1833C>T (p.Cys611=) rs142554239 0.00167
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr) rs80116829 0.00167
NM_004393.6(DAG1):c.599C>G (p.Thr200Ser) rs41290704 0.00167
NM_014319.5(LEMD3):c.862C>G (p.Arg288Gly) rs144086377 0.00167
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=) rs61746542 0.00167
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380 0.00167
NM_178452.6(DNAAF1):c.1567G>A (p.Val523Ile) rs148387367 0.00167
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) rs145467740 0.00166
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546 0.00166
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=) rs76092524 0.00166
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493 0.00166
NM_001164508.2(NEB):c.4466G>A (p.Gly1489Asp) rs74482326 0.00166
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=) rs147984237 0.00166
NM_001379110.1(SLC9A6):c.1637G>A (p.Arg546Gln) rs146263125 0.00166
NM_001379286.1(ZNF423):c.87C>T (p.Ser29=) rs116537749 0.00166
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_003106.4(SOX2):c.834C>T (p.Leu278=) rs144530684 0.00166
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln) rs72659383 0.00166
NM_004456.5(EZH2):c.1852-9A>G rs199654408 0.00166
NM_005477.3(HCN4):c.1978+3G>T rs113112855 0.00166
NM_012418.4(FSCN2):c.48C>T (p.Leu16=) rs199668780 0.00166
NM_015175.3(NBEAL2):c.7658G>A (p.Gly2553Glu) rs144664865 0.00166
NM_016239.4(MYO15A):c.8841G>A (p.Leu2947=) rs201809145 0.00166
NM_020812.4(DOCK6):c.4862T>C (p.Val1621Ala) rs201738818 0.00166
NM_033100.4(CDHR1):c.526-7C>G rs190906755 0.00166
NM_172107.4(KCNQ2):c.303C>G (p.Leu101=) rs145415996 0.00166
NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn) rs117480635 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_000214.3(JAG1):c.2301G>A (p.Thr767=) rs147634857 0.00165
NM_000316.3(PTH1R):c.448C>T (p.Arg150Cys) rs121434601 0.00165
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00165
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=) rs34718443 0.00165
NM_001164508.2(NEB):c.4206T>A (p.Asn1402Lys) rs201169452 0.00165
NM_001286445.3(RIPOR2):c.3133A>G (p.Thr1045Ala) rs373913240 0.00165
NM_001852.4(COL9A2):c.250-7T>C rs146943340 0.00165
NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu) rs147173555 0.00165
NM_004608.4(TBX6):c.353+9C>A rs369603655 0.00165
NM_005216.5(DDOST):c.1148C>T (p.Thr383Ile) rs145940009 0.00165
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012 0.00165
NM_012418.4(FSCN2):c.357C>T (p.Ser119=) rs189437871 0.00165
NM_018668.5(VPS33B):c.1701C>T (p.Leu567=) rs146999653 0.00165
NM_025132.4(WDR19):c.2361C>T (p.Phe787=) rs200133722 0.00165
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132 0.00164
NM_000426.4(LAMA2):c.7111T>G (p.Phe2371Val) rs150644209 0.00164
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803 0.00164
NM_001164508.2(NEB):c.3639C>T (p.Val1213=) rs74320183 0.00164
NM_001614.5(ACTG1):c.803-6C>T rs199600452 0.00164
NM_003193.5(TBCE):c.394G>A (p.Val132Ile) rs144448831 0.00164
NM_003701.4(TNFSF11):c.214G>A (p.Ala72Thr) rs142756983 0.00164
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671 0.00164
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776 0.00164
NM_201384.3(PLEC):c.2551G>A (p.Val851Met) rs200647397 0.00164
NM_201548.5(CERKL):c.27G>A (p.Arg9=) rs368855330 0.00164
NM_207034.3(EDN3):c.670G>A (p.Ala224Thr) rs11570351 0.00164
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879 0.00163
NM_000142.5(FGFR3):c.169G>A (p.Val57Met) rs61735064 0.00163
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile) rs148091558 0.00163
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092 0.00163
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_000719.7(CACNA1C):c.4624-9C>T rs377568567 0.00163
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869 0.00163
NM_001267550.2(TTN):c.40587A>G (p.Glu13529=) rs370597107 0.00163
NM_001267550.2(TTN):c.46880C>T (p.Ala15627Val) rs115813214 0.00163
NM_001304438.2(TMEM132E):c.1758C>T (p.Cys586=) rs144692952 0.00163
NM_001482.3(GATM):c.669T>C (p.Tyr223=) rs151231277 0.00163
NM_001701.4(BAAT):c.997A>G (p.Ser333Gly) rs139829321 0.00163
NM_001848.3(COL6A1):c.2517C>T (p.Ser839=) rs141463437 0.00163
NM_002181.4(IHH):c.618C>T (p.Ala206=) rs3731879 0.00163
NM_002900.3(RBP3):c.418G>A (p.Gly140Ser) rs34932849 0.00163
NM_005477.3(HCN4):c.1518C>T (p.Tyr506=) rs139590882 0.00163
NM_006493.4(CLN5):c.705G>A (p.Val235=) rs116531784 0.00163
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu) rs35641267 0.00163
NM_080680.3(COL11A2):c.390G>C (p.Arg130=) rs149638770 0.00163
NM_144631.6(ZNF513):c.290C>T (p.Ala97Val) rs35554630 0.00163
NM_178335.3(CCDC50):c.1203A>G (p.Lys401=) rs146511344 0.00163
NM_182961.4(SYNE1):c.23002C>G (p.Leu7668Val) rs150589796 0.00163
NM_201525.4(ADGRG1):c.1287-28G>C rs60624815 0.00163
NM_201548.5(CERKL):c.820+9G>A rs189638090 0.00163
NM_000036.3(AMPD1):c.334G>A (p.Val112Met) rs61741025 0.00162
NM_000093.5(COL5A1):c.194G>A (p.Arg65Gln) rs116003670 0.00162
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_001159699.2(FHL1):c.489C>T (p.Asp163=) rs149670651 0.00162
NM_001164508.2(NEB):c.9071C>T (p.Ala3024Val) rs143933602 0.00162
NM_004006.3(DMD):c.1483-7C>G rs112463388 0.00162
NM_006019.4(TCIRG1):c.90C>T (p.Gly30=) rs141859450 0.00162
NM_012208.4(HARS2):c.324T>C (p.Tyr108=) rs143687204 0.00162
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083 0.00162
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_147127.5(EVC2):c.1471-6C>T rs115466792 0.00162
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile) rs149871493 0.00162
NM_000092.5(COL4A4):c.2056+10A>G rs138869451 0.00161
NM_001130438.3(SPTAN1):c.5460G>A (p.Ala1820=) rs140191388 0.00161
NM_001130987.2(DYSF):c.429C>T (p.Ser143=) rs115390288 0.00161
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp) rs139879284 0.00161
NM_001370298.3(FGD4):c.666A>T (p.Ala222=) rs139357821 0.00161
NM_001457.4(FLNB):c.6642C>T (p.Phe2214=) rs140786324 0.00161
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_201384.3(PLEC):c.9558A>G (p.Thr3186=) rs201102719 0.00161
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549 0.00160
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys) rs146041189 0.00160
NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp) rs200936863 0.00160
NM_001089.3(ABCA3):c.2340C>T (p.His780=) rs45620539 0.00160
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=) rs184389316 0.00160
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val) rs184018403 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_005199.5(CHRNG):c.1115C>T (p.Ser372Phe) rs145433186 0.00160
NM_005422.4(TECTA):c.1834G>A (p.Asp612Asn) rs143730090 0.00160
NM_005609.4(PYGM):c.1888G>A (p.Val630Met) rs115347245 0.00160
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys) rs116180923 0.00160
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) rs79203206 0.00160
NM_018979.4(WNK1):c.1074C>T (p.Thr358=) rs72648621 0.00160
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr) rs77959215 0.00160
NM_153026.3(PRICKLE1):c.2404C>T (p.Pro802Ser) rs150545495 0.00160
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val) rs199755408 0.00159
NM_000251.3(MSH2):c.1277-8T>C rs145400590 0.00159
NM_000392.5(ABCC2):c.3492C>T (p.Ser1164=) rs144192700 0.00159
NM_000769.1(CYP2C19):c.358T>C (p.Trp120Arg) rs41291556 0.00159
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met) rs73559947 0.00159
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_001199799.2(ILDR1):c.227C>T (p.Ala76Val) rs143072070 0.00159
NM_001267550.2(TTN):c.14004C>T (p.Thr4668=) rs201200682 0.00159
NM_001378615.1(CC2D2A):c.2050T>A (p.Leu684Ile) rs190698163 0.00159
NM_001844.5(COL2A1):c.3003+9G>A rs200403247 0.00159
NM_001966.4(EHHADH):c.1666A>G (p.Arg556Gly) rs140735525 0.00159
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602 0.00159
NM_004260.4(RECQL4):c.615C>G (p.Pro205=) rs35639991 0.00159
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val) rs200250181 0.00159
NM_025074.7(FRAS1):c.7029+7G>A rs183687186 0.00159
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405 0.00159
NM_058246.4(DNAJB6):c.961T>C (p.Ser321Pro) rs147168661 0.00159
NM_153212.3(GJB4):c.495C>T (p.Ser165=) rs147912521 0.00159
NM_201384.3(PLEC):c.2458-8C>T rs201818691 0.00159
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_000314.8(PTEN):c.1104T>C (p.Asp368=) rs35979531 0.00158
NM_000321.3(RB1):c.380+10C>G rs187110786 0.00158
NM_000383.4(AIRE):c.1567-5C>T rs192215705 0.00158
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106 0.00158
NM_001130987.2(DYSF):c.1626C>T (p.Asn542=) rs139495331 0.00158
NM_001145715.3(KPNA7):c.1317+3G>A rs138176387 0.00158
NM_001145809.2(MYH14):c.4685G>A (p.Arg1562Gln) rs140118363 0.00158
NM_001235.5(SERPINH1):c.721+9T>C rs138193444 0.00158
NM_001298.3(CNGA3):c.740C>T (p.Thr247Met) rs148616345 0.00158
NM_001367624.2(ZNF469):c.8076G>A (p.Pro2692=) rs149200506 0.00158
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys) rs140782270 0.00158
NM_001379286.1(ZNF423):c.1655G>T (p.Gly552Val) rs34425379 0.00158
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082 0.00158
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=) rs138022198 0.00158
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_013382.7(POMT2):c.1881G>A (p.Ala627=) rs146588608 0.00158
NM_016239.4(MYO15A):c.823G>C (p.Gly275Arg) rs183969516 0.00158
NM_022437.3(ABCG8):c.1094C>T (p.Thr365Met) rs140778634 0.00158
NM_022437.3(ABCG8):c.1170G>A (p.Thr390=) rs139902223 0.00158
NM_032578.4(MYPN):c.1790G>A (p.Arg597His) rs150911078 0.00158
NM_170707.4(LMNA):c.1851C>T (p.Ala617=) rs143189394 0.00158
NM_201384.3(PLEC):c.1955C>T (p.Thr652Ile) rs190470017 0.00158
NM_201384.3(PLEC):c.3210G>A (p.Thr1070=) rs375699173 0.00158
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254 0.00158
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val) rs142679083 0.00157
NM_001297.5(CNGB1):c.1204G>A (p.Asp402Asn) rs140907154 0.00157
NM_002900.3(RBP3):c.2168C>T (p.Pro723Leu) rs148247227 0.00157
NM_003995.4(NPR2):c.64G>T (p.Ala22Ser) rs140014632 0.00157
NM_004817.4(TJP2):c.3342T>C (p.His1114=) rs61753629 0.00157
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr) rs142054672 0.00157
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) rs139503476 0.00157
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NM_018451.5(CPAP):c.175A>G (p.Thr59Ala) rs138732534 0.00157
NM_018979.4(WNK1):c.6150T>C (p.Leu2050=) rs151331381 0.00157
NM_019066.5(MAGEL2):c.1470G>A (p.Pro490=) rs771501846 0.00157
NM_033337.3(CAV3):c.336C>T (p.Ile112=) rs139985460 0.00157
NM_182914.3(SYNE2):c.7898A>G (p.Asn2633Ser) rs190582637 0.00157
NM_201384.3(PLEC):c.6507G>A (p.Lys2169=) rs199866902 0.00157
NM_201525.4(ADGRG1):c.1810C>T (p.Leu604=) rs113358058 0.00157
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_000553.6(WRN):c.355+4G>C rs145764920 0.00156
NM_000769.1(CYP2C19):c.1A>G (p.Met1Val) rs28399504 0.00156
NM_001110556.2(FLNA):c.1429+8C>T rs202181557 0.00156
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169 0.00156
NM_001458.5(FLNC):c.6991G>A (p.Val2331Met) rs191288058 0.00156
NM_002335.4(LRP5):c.2295G>A (p.Ser765=) rs140955013 0.00156
NM_005633.4(SOS1):c.2988G>A (p.Pro996=) rs35462677 0.00156
NM_006922.4(SCN3A):c.5952C>T (p.Asp1984=) rs145197227 0.00156
NM_012301.4(MAGI2):c.2142G>A (p.Pro714=) rs144574076 0.00156
NM_014846.4(WASHC5):c.1818C>T (p.Pro606=) rs140063111 0.00156
NM_015272.5(RPGRIP1L):c.2153-4G>C rs201380599 0.00156
NM_017780.4(CHD7):c.2067G>A (p.Thr689=) rs34979623 0.00156
NM_020631.6(PLEKHG5):c.1932T>C (p.Pro644=) rs150807400 0.00156
NM_020800.3(IFT80):c.897G>A (p.Val299=) rs145776235 0.00156
NM_022098.4(XPNPEP3):c.590-8A>G rs143719656 0.00156
NM_032856.5(WDR73):c.935G>A (p.Arg312Gln) rs201294090 0.00156
NM_053025.4(MYLK):c.4289-4C>G rs376670657 0.00156
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys) rs149030452 0.00156
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser) rs148411623 0.00155
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_000095.3(COMP):c.2262G>A (p.Leu754=) rs150428337 0.00155
NM_000100.4(CSTB):c.*7C>G rs201576714 0.00155
NM_000368.5(TSC1):c.1701G>A (p.Ala567=) rs35478675 0.00155
NM_000392.5(ABCC2):c.2073C>A (p.Val691=) rs17222624 0.00155
NM_000443.4(ABCB4):c.712C>G (p.Leu238Val) rs45596335 0.00155
NM_000540.3(RYR1):c.2622G>A (p.Ala874=) rs149381996 0.00155
NM_001003722.2(GLE1):c.1393T>A (p.Ser465Thr) rs141709685 0.00155
NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val) rs141640975 0.00155
NM_001235.5(SERPINH1):c.267G>A (p.Thr89=) rs139127426 0.00155
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg) rs144494437 0.00155
NM_001379081.2(FREM1):c.1464C>T (p.Ser488=) rs200064797 0.00155
NM_001845.6(COL4A1):c.1000-5T>G rs75711155 0.00155
NM_002241.5(KCNJ10):c.735C>G (p.Asp245Glu) rs146426296 0.00155
NM_004004.6(GJB2):c.*3C>A rs111033460 0.00155
NM_016239.4(MYO15A):c.4623G>A (p.Thr1541=) rs926074 0.00155
NM_018136.5(ASPM):c.1385A>G (p.Tyr462Cys) rs143294539 0.00155
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser) rs147586703 0.00155
NM_025009.5(CEP135):c.1740A>G (p.Arg580=) rs59759676 0.00155
NM_033380.3(COL4A5):c.3148C>T (p.Pro1050Ser) rs143945573 0.00155
NM_130837.3(OPA1):c.2332-19C>A rs77355463 0.00155
NM_201384.3(PLEC):c.6198G>T (p.Gln2066His) rs201574539 0.00155
NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala) rs61760167 0.00154
NM_000362.5(TIMP3):c.516C>T (p.Phe172=) rs149161075 0.00154
NM_000408.5(GPD2):c.614C>T (p.Pro205Leu) rs142821701 0.00154
NM_000463.3(UGT1A1):c.141C>T (p.Ile47=) rs34526305 0.00154
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=) rs139799727 0.00154
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817 0.00154
NM_001267550.2(TTN):c.58612A>G (p.Thr19538Ala) rs200017524 0.00154
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly) rs140534207 0.00154
NM_001918.5(DBT):c.175+37G>A rs76902654 0.00154
NM_003737.4(DCHS1):c.4555C>T (p.Pro1519Ser) rs199544459 0.00154
NM_005045.4(RELN):c.77C>T (p.Ala26Val) rs144557847 0.00154
NM_020754.4(ARHGAP31):c.2344C>A (p.Pro782Thr) rs139659618 0.00154
NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val) rs139640224 0.00154
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=) rs118187988 0.00154
NM_000128.4(F11):c.1305-9G>T rs4253426 0.00153
NM_000245.4(MET):c.654G>A (p.Arg218=) rs35284565 0.00153
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln) rs144051476 0.00153
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=) rs182505786 0.00153
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438 0.00153
NM_001267550.2(TTN):c.88297G>A (p.Asp29433Asn) rs189202799 0.00153
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217 0.00153
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009 0.00153
NM_003193.5(TBCE):c.194C>A (p.Thr65Lys) rs144747353 0.00153
NM_004006.3(DMD):c.8571T>C (p.Thr2857=) rs72466570 0.00153
NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser) rs151316028 0.00153
NM_006941.4(SOX10):c.822C>T (p.Gly274=) rs147334218 0.00153
NM_012301.4(MAGI2):c.2213G>A (p.Arg738Gln) rs145722885 0.00153
NM_014874.4(MFN2):c.1179G>A (p.Met393Ile) rs12069578 0.00153
NM_015295.3(SMCHD1):c.2913+6C>G rs186678728 0.00153
NM_017780.4(CHD7):c.712G>A (p.Val238Met) rs200898742 0.00153
NM_018136.5(ASPM):c.4733G>A (p.Arg1578Gln) rs143822761 0.00153
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val) rs140234219 0.00153
NM_023110.3(FGFR1):c.336C>T (p.Thr112=) rs148480919 0.00153
NM_025137.4(SPG11):c.4744-6T>C rs147550048 0.00153
NM_030665.4(RAI1):c.1656C>T (p.Ser552=) rs148309343 0.00153
NM_032043.3(BRIP1):c.2061G>C (p.Val687=) rs112414873 0.00153
NM_080680.3(COL11A2):c.2336C>T (p.Pro779Leu) rs150877886 0.00153
NM_201384.3(PLEC):c.8051G>A (p.Arg2684Gln) rs200239963 0.00153
NM_201384.3(PLEC):c.9351C>T (p.Phe3117=) rs200895343 0.00153
NM_000327.4(ROM1):c.81G>T (p.Leu27=) rs148196509 0.00152
NM_000618.5(IGF1):c.207G>A (p.Arg69=) rs147960415 0.00152
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln) rs121912280 0.00152
NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=) rs145304925 0.00152
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys) rs145709687 0.00152
NM_001999.4(FBN2):c.953-8T>G rs201818403 0.00152
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282 0.00152
NM_004525.3(LRP2):c.9477G>A (p.Met3159Ile) rs144322413 0.00152
NM_005591.4(MRE11):c.822T>C (p.Leu274=) rs137868143 0.00152
NM_006017.3(PROM1):c.1345G>A (p.Val449Met) rs200620291 0.00152
NM_006790.3(MYOT):c.445G>C (p.Glu149Gln) rs71578935 0.00152
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=) rs187311127 0.00152
NM_018965.4(TREM2):c.259G>A (p.Asp87Asn) rs142232675 0.00152
NM_133259.4(LRPPRC):c.3275+7G>A rs111392631 0.00152
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys) rs185594460 0.00151
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) rs181099904 0.00151
NM_001105206.3(LAMA4):c.4822-3C>T rs191447048 0.00151
NM_001159773.2(CANT1):c.56G>A (p.Arg19Gln) rs144060377 0.00151
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) rs45617636 0.00151
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774 0.00151
NM_001267550.2(TTN):c.98267C>T (p.Thr32756Ile) rs199805060 0.00151
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg) rs140830294 0.00151
NM_004994.3(MMP9):c.773C>T (p.Thr258Ile) rs41529445 0.00151
NM_007126.5(VCP):c.79A>G (p.Ile27Val) rs140913250 0.00151
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala) rs148453565 0.00151
NM_016239.4(MYO15A):c.10573A>G (p.Ser3525Gly) rs182332665 0.00151
NM_021167.5(GATAD1):c.762G>A (p.Gly254=) rs139637606 0.00151
NM_032119.4(ADGRV1):c.14223C>T (p.Ala4741=) rs61999270 0.00151
NM_133379.5(TTN):c.15228C>A (p.Pro5076=) rs143135505 0.00151
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966 0.00150
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564 0.00150
NM_000426.4(LAMA2):c.8728G>A (p.Val2910Ile) rs141479751 0.00150
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala) rs35122256 0.00150
NM_000742.4(CHRNA2):c.1500C>T (p.Ile500=) rs143223159 0.00150
NM_001035.3(RYR2):c.2301G>T (p.Ser767=) rs117588730 0.00150
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_001134407.3(GRIN2A):c.1251C>T (p.Val417=) rs139329447 0.00150
NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=) rs147066476 0.00150
NM_001551.3(IGBP1):c.317G>A (p.Arg106Gln) rs143163513 0.00150
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00150
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=) rs147448807 0.00150
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747 0.00150
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) rs138886791 0.00150
NM_017433.5(MYO3A):c.1275G>A (p.Gln425=) rs77562287 0.00150
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) rs140679502 0.00150
NM_024757.5(EHMT1):c.354T>G (p.Ser118=) rs142271310 0.00150
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met) rs145804755 0.00150
NM_198525.3(KIF7):c.3514C>A (p.Arg1172=) rs138196132 0.00150
NM_198525.3(KIF7):c.3998C>A (p.Pro1333Gln) rs145726393 0.00150
NM_201384.3(PLEC):c.3543C>T (p.Val1181=) rs202185399 0.00150
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00149
NM_000769.1(CYP2C19):c.636G>A (p.Trp212Ter) rs4986893 0.00149
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=) rs2229919 0.00149
NM_001277115.2(DNAH11):c.3466G>A (p.Gly1156Arg) rs183521702 0.00149
NM_001365536.1(SCN9A):c.3051G>C (p.Lys1017Asn) rs147623238 0.00149
NM_001845.6(COL4A1):c.1466-6C>T rs183563055 0.00149
NM_004612.4(TGFBR1):c.-2C>T rs200224304 0.00149
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386 0.00149
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly) rs560874115 0.00149
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg) rs143796569 0.00149
NM_032119.4(ADGRV1):c.15786C>T (p.Phe5262=) rs369083434 0.00149
NM_033641.4(COL4A6):c.3537G>A (p.Pro1179=) rs144803723 0.00149
NM_153026.3(PRICKLE1):c.177C>T (p.Tyr59=) rs144843013 0.00149
NM_201384.3(PLEC):c.8625C>T (p.Pro2875=) rs183401234 0.00149
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847 0.00148
NM_000492.4(CFTR):c.1393-42G>A rs34906874 0.00148
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846 0.00148
NM_000553.6(WRN):c.1149G>T (p.Leu383Phe) rs4987238 0.00148
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=) rs1805029 0.00148
NM_000875.5(IGF1R):c.1336A>G (p.Met446Val) rs117440569 0.00148
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly) rs36105240 0.00148
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser) rs148072630 0.00148
NM_001353214.3(DYM):c.620+4T>G rs201652921 0.00148
NM_001378452.1(ITPR1):c.2007-3T>C rs200335594 0.00148
NM_001457.4(FLNB):c.6683T>C (p.Ile2228Thr) rs149629209 0.00148
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948 0.00148
NM_012418.4(FSCN2):c.1230C>T (p.Asp410=) rs182593453 0.00148
NM_013382.7(POMT2):c.1683T>C (p.Asn561=) rs146307965 0.00148
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=) rs192683347 0.00148
NM_018451.5(CPAP):c.646T>C (p.Cys216Arg) rs143260721 0.00148
NM_145200.5(CABP4):c.155G>A (p.Arg52Gln) rs145789542 0.00148
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_001042472.3(ABHD12):c.1113G>A (p.Arg371=) rs146028040 0.00147
NM_001080413.3(NOBOX):c.362C>T (p.Pro121Leu) rs187273709 0.00147
NM_001134831.2(AHI1):c.72T>C (p.Ser24=) rs73777558 0.00147
NM_001267550.2(TTN):c.11254+2T>C rs199565715 0.00147
NM_001298.3(CNGA3):c.198C>T (p.Thr66=) rs139544302 0.00147
NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu) rs189438534 0.00147
NM_004183.4(BEST1):c.637-6C>T rs62639356 0.00147
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His) rs182139018 0.00147
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=) rs4986844 0.00147
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn) rs147588666 0.00147
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe) rs139334167 0.00147
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978 0.00147
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn) rs146366996 0.00147
NM_194318.4(B3GLCT):c.1371A>G (p.Gln457=) rs114941150 0.00147
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_000843.4(GRM6):c.1732C>T (p.Arg578Cys) rs62638210 0.00146
NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe) rs201894544 0.00146
NM_001083614.2(EARS2):c.1045G>A (p.Glu349Lys) rs187662524 0.00146
NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val) rs145204073 0.00146
NM_001267550.2(TTN):c.33416G>C (p.Arg11139Thr) rs72650040 0.00146
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=) rs189768015 0.00146
NM_001278182.2(EOMES):c.436C>T (p.Leu146Phe) rs200215171 0.00146
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu) rs147688221 0.00146
NM_001374385.1(ATP8B1):c.150A>G (p.Glu50=) rs137973298 0.00146
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn) rs141553756 0.00146
NM_002693.3(POLG):c.1890C>T (p.Asn630=) rs148658588 0.00146
NM_004006.3(DMD):c.2971G>C (p.Glu991Gln) rs72468667 0.00146
NM_015272.5(RPGRIP1L):c.640G>A (p.Val214Ile) rs139067427 0.00146
NM_020436.5(SALL4):c.2376T>C (p.Asn792=) rs143601538 0.00146
NM_024596.5(MCPH1):c.2250G>T (p.Pro750=) rs370202384 0.00146
NM_024757.5(EHMT1):c.148G>A (p.Ala50Thr) rs78104547 0.00146
NM_024757.5(EHMT1):c.2040G>A (p.Ser680=) rs150451099 0.00146
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976 0.00146
NM_201384.3(PLEC):c.12817C>T (p.Pro4273Ser) rs202040785 0.00146
NM_201384.3(PLEC):c.8509G>A (p.Glu2837Lys) rs199661077 0.00146
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu) rs146588336 0.00145
NM_000433.4(NCF2):c.113G>A (p.Arg38Gln) rs147415774 0.00145
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe) rs151073129 0.00145
NM_001127222.2(CACNA1A):c.3457C>G (p.Gln1153Glu) rs201612257 0.00145
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=) rs185574478 0.00145
NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=) rs138464813 0.00145
NM_001267550.2(TTN):c.10104T>G (p.Val3368=) rs142460433 0.00145
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys) rs72648972 0.00145
NM_001330078.2(NRXN1):c.501C>G (p.Leu167=) rs200248561 0.00145
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_003742.4(ABCB11):c.156G>A (p.Arg52=) rs140587295 0.00145
NM_003742.4(ABCB11):c.1791G>T (p.Val597=) rs11568371 0.00145
NM_004817.4(TJP2):c.61-6A>T rs200415824 0.00145
NM_005670.4(EPM2A):c.129C>G (p.Ala43=) rs547147183 0.00145
NM_005957.5(MTHFR):c.1761C>T (p.Ala587=) rs115049252 0.00145
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649 0.00145
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060 0.00145
NM_018006.5(TRMU):c.238G>A (p.Asp80Asn) rs55952751 0.00145
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met) rs144701688 0.00145
NM_022436.3(ABCG5):c.696C>T (p.Val232=) rs72796720 0.00145
NM_022436.3(ABCG5):c.957C>T (p.Ser319=) rs146131711 0.00145
NM_022455.5(NSD1):c.760C>T (p.Leu254Phe) rs149334244 0.00145
NM_032119.4(ADGRV1):c.15669G>A (p.Gly5223=) rs61741955 0.00145
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met) rs146954342 0.00145
NM_033100.4(CDHR1):c.1461G>A (p.Gly487=) rs141787212 0.00145
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715 0.00145
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile) rs147851214 0.00145
NM_172107.4(KCNQ2):c.570C>T (p.Asn190=) rs116087798 0.00145
NM_000156.6(GAMT):c.392-7C>T rs192416474 0.00144
NM_000335.5(SCN5A):c.3919C>T (p.Leu1307Phe) rs41313031 0.00144
NM_000381.4(MID1):c.1266C>T (p.Thr422=) rs148477118 0.00144
NM_000539.3(RHO):c.381C>G (p.Ser127=) rs146311684 0.00144
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898 0.00144
NM_001267550.2(TTN):c.85406C>G (p.Ser28469Cys) rs202040332 0.00144
NM_001848.3(COL6A1):c.588+8C>G rs398123638 0.00144
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615 0.00144
NM_003846.3(PEX11B):c.483A>G (p.Gly161=) rs148000769 0.00144
NM_004281.4(BAG3):c.1587C>T (p.Ala529=) rs149358702 0.00144
NM_005562.3(LAMC2):c.889A>G (p.Thr297Ala) rs143817389 0.00144
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00144
NM_017780.4(CHD7):c.1419G>C (p.Gly473=) rs186394299 0.00144
NM_024301.5(FKRP):c.567C>T (p.Pro189=) rs201454433 0.00144
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=) rs138661755 0.00144
NM_198525.3(KIF7):c.3842G>T (p.Ser1281Ile) rs143877028 0.00144
NM_201384.3(PLEC):c.6408G>A (p.Glu2136=) rs200444977 0.00144
NM_000030.3(AGXT):c.866G>A (p.Arg289His) rs61729604 0.00143
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_000436.4(OXCT1):c.1491C>T (p.Asp497=) rs144283422 0.00143
NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=) rs2230029 0.00143
NM_000642.3(AGL):c.1875G>T (p.Thr625=) rs141944878 0.00143
NM_001017995.3(SH3PXD2B):c.1955C>T (p.Thr652Met) rs148050566 0.00143
NM_001039141.3(TRIOBP):c.4728T>C (p.Arg1576=) rs112874177 0.00143
NM_001122630.2(CDKN1C):c.636C>T (p.Ser212=) rs540923047 0.00143
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=) rs147263499 0.00143
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser) rs200992277 0.00143
NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=) rs186541002 0.00143
NM_001458.5(FLNC):c.6714C>T (p.Thr2238=) rs10268251 0.00143
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196 0.00143
NM_004006.3(DMD):c.7472A>G (p.Gln2491Arg) rs147694734 0.00143
NM_012301.4(MAGI2):c.219C>T (p.Pro73=) rs148240352 0.00143
NM_024408.4(NOTCH2):c.4122C>T (p.Cys1374=) rs74117504 0.00143
NM_024809.5(TCTN2):c.615C>T (p.Gly205=) rs147485641 0.00143
NM_181741.4(ORC4):c.353T>C (p.Leu118Ser) rs61750441 0.00143
NM_198859.4(PRICKLE2):c.788-6T>C rs180903875 0.00143
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met) rs55698015 0.00142
NM_000142.5(FGFR3):c.678C>T (p.Tyr226=) rs141575580 0.00142
NM_000326.5(RLBP1):c.141+6G>A rs181321141 0.00142
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593 0.00142
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976 0.00142
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641 0.00142
NM_002691.4(POLD1):c.2967G>A (p.Thr989=) rs3218752 0.00142
NM_003737.4(DCHS1):c.1493G>A (p.Arg498Gln) rs150834672 0.00142
NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys) rs61757671 0.00142
NM_016239.4(MYO15A):c.54G>A (p.Lys18=) rs144909486 0.00142
NM_018344.6(SLC29A3):c.687C>T (p.Ser229=) rs113542201 0.00142
NM_019066.5(MAGEL2):c.2074G>A (p.Val692Ile) rs200926181 0.00142
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln) rs111033480 0.00142
NM_022436.3(ABCG5):c.50T>G (p.Val17Gly) rs72542427 0.00142
NM_000059.4(BRCA2):c.9634G>C (p.Gly3212Arg) rs55775473 0.00141
NM_000744.7(CHRNA4):c.77-4G>A rs201123897 0.00141
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) rs200195310 0.00141
NM_001127255.2(NLRP7):c.2095G>A (p.Val699Ile) rs77072552 0.00141
NM_001130823.3(DNMT1):c.81-3C>T rs76503110 0.00141
NM_001267550.2(TTN):c.32593G>C (p.Val10865Leu) rs150733188 0.00141
NM_001267550.2(TTN):c.61029T>C (p.Phe20343=) rs6706088 0.00141
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln) rs148849567 0.00141
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg) rs201158906 0.00141
NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=) rs77144869 0.00141
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
NM_002471.4(MYH6):c.5400C>T (p.Asp1800=) rs144329079 0.00141
NM_014254.3(RXYLT1):c.252C>T (p.Ser84=) rs141095352 0.00141
NM_017882.3(CLN6):c.339G>A (p.Thr113=) rs146135801 0.00141
NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met) rs150516342 0.00141
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_201384.3(PLEC):c.8660A>G (p.Lys2887Arg) rs201655861 0.00141
NM_207361.6(FREM2):c.5642-9T>C rs148794835 0.00141
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229 0.00140
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg) rs7215458 0.00140
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu) rs147493628 0.00140
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042 0.00140
NM_000540.3(RYR1):c.11141+7A>G rs78350770 0.00140
NM_000540.3(RYR1):c.2919C>T (p.His973=) rs139363830 0.00140
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325 0.00140
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642 0.00140
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=) rs190336010 0.00140
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser) rs193224180 0.00140
NM_001349338.3(FOXP1):c.1709A>G (p.Asn570Ser) rs140161845 0.00140
NM_001355436.2(SPTB):c.2881G>A (p.Val961Ile) rs149316006 0.00140
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg) rs753664726 0.00140
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val) rs200466720 0.00140
NM_001379500.1(COL18A1):c.2849G>A (p.Arg950His) rs202106628 0.00140
NM_001384140.1(PCDH15):c.4801G>A (p.Gly1601Ser) rs181306086 0.00140
NM_001457.4(FLNB):c.4929C>T (p.Ala1643=) rs149070858 0.00140
NM_004820.5(CYP7B1):c.1464G>A (p.Leu488=) rs114797034 0.00140
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys) rs114684479 0.00140
NM_007255.3(B4GALT7):c.411C>T (p.Phe137=) rs142951817 0.00140
NM_014425.5(INVS):c.913G>A (p.Val305Ile) rs116438342 0.00140
NM_014780.5(CUL7):c.861G>A (p.Gly287=) rs61750322 0.00140
NM_015294.6(TRIM37):c.1919G>A (p.Arg640His) rs112762655 0.00140
NM_015311.3(OBSL1):c.2466C>T (p.Ser822=) rs146306059 0.00140
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483 0.00140
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462 0.00140
NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=) rs113938044 0.00140
NM_133642.5(LARGE1):c.1008T>C (p.Asp336=) rs115076367 0.00140
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser) rs41273722 0.00140
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=) rs139590550 0.00140
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_000089.4(COL1A2):c.3139G>A (p.Val1047Met) rs35820023 0.00139
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_001077415.3(CRELD1):c.320G>A (p.Arg107His) rs28941780 0.00139
NM_182914.3(SYNE2):c.15928T>C (p.Leu5310=) rs74975380 0.00139
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687 0.00138
NM_000260.4(MYO7A):c.510G>A (p.Leu170=) rs34477144 0.00138
NM_000285.4(PEPD):c.104G>A (p.Arg35Gln) rs200435937 0.00138
NM_000492.4(CFTR):c.4243-5C>T rs114402068 0.00138
NM_001083961.2(WDR62):c.1359C>T (p.Asn453=) rs148667984 0.00138
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser) rs199784029 0.00138
NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys) rs141226650 0.00138
NM_001378454.1(ALMS1):c.3732G>A (p.Lys1244=) rs140670994 0.00138
NM_001384140.1(PCDH15):c.4891C>T (p.Leu1631=) rs200155519 0.00138
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys) rs367630521 0.00138
NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln) rs34932223 0.00138
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_005634.3(SOX3):c.603G>A (p.Lys201=) rs138530785 0.00138
NM_014336.5(AIPL1):c.244C>T (p.His82Tyr) rs144822294 0.00138
NM_017807.4(OSGEP):c.355C>T (p.Leu119Phe) rs147548960 0.00138
NM_020975.6(RET):c.654G>A (p.Pro218=) rs137928436 0.00138
NM_021116.4(ADCY1):c.2694C>T (p.Asn898=) rs61735492 0.00138
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn) rs184143186 0.00138
NM_181882.3(PRX):c.3947C>T (p.Ala1316Val) rs142762689 0.00138
NM_182914.3(SYNE2):c.19135C>T (p.Arg6379Cys) rs141741640 0.00138
NM_182961.4(SYNE1):c.23713G>A (p.Glu7905Lys) rs148997223 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_000428.3(LTBP2):c.4905G>C (p.Leu1635=) rs144520047 0.00137
NM_001083961.2(WDR62):c.2666T>C (p.Met889Thr) rs139749569 0.00137
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570 0.00137
NM_001145809.2(MYH14):c.5573G>A (p.Arg1858His) rs11882073 0.00137
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958 0.00137
NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=) rs145322467 0.00137
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln) rs142874389 0.00137
NM_001289104.2(PRKCSH):c.416G>A (p.Arg139His) rs139991238 0.00137
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211 0.00137
NM_001378609.3(OTOGL):c.3213+10C>T rs201373228 0.00137
NM_001384474.1(LOXHD1):c.5767C>G (p.Gln1923Glu) rs377368588 0.00137
NM_001458.5(FLNC):c.1698C>T (p.Ser566=) rs112194548 0.00137
NM_001999.4(FBN2):c.2555-7A>G rs28763949 0.00137
NM_005802.5(TOPORS):c.1730C>A (p.Ser577Tyr) rs79708790 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_015192.4(PLCB1):c.2550G>T (p.Glu850Asp) rs141433824 0.00137
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285 0.00137
NM_018136.5(ASPM):c.646G>A (p.Glu216Lys) rs151050191 0.00137
NM_032119.4(ADGRV1):c.8815C>T (p.Pro2939Ser) rs202211640 0.00137
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu) rs115534729 0.00137
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765 0.00136
NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=) rs199802825 0.00136
NM_001195263.2(PDZD7):c.2250G>T (p.Trp750Cys) rs759725715 0.00136
NM_001458.5(FLNC):c.2501C>T (p.Thr834Met) rs75133741 0.00136
NM_002180.3(IGHMBP2):c.1603A>G (p.Ile535Val) rs140221316 0.00136
NM_004329.3(BMPR1A):c.1560G>A (p.Thr520=) rs142775086 0.00136
NM_005559.4(LAMA1):c.5867A>G (p.Asn1956Ser) rs117433399 0.00136
NM_007118.4(TRIO):c.41C>T (p.Ser14Phe) rs905287265 0.00136
NM_020549.5(CHAT):c.909C>T (p.His303=) rs76570508 0.00136
NM_030665.4(RAI1):c.3655C>T (p.Leu1219Phe) rs151290050 0.00136
NM_181882.3(PRX):c.1574T>C (p.Val525Ala) rs149715830 0.00136
NM_000292.3(PHKA2):c.742A>C (p.Arg248=) rs149219369 0.00135
NM_000325.6(PITX2):c.819G>A (p.Pro273=) rs148191851 0.00135
NM_001029883.3(PCARE):c.2418C>T (p.Pro806=) rs189042259 0.00135
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) rs201168500 0.00135
NM_001330078.2(NRXN1):c.222C>T (p.Gly74=) rs201592993 0.00135
NM_001378477.3(NYX):c.1188G>A (p.Pro396=) rs139558261 0.00135
NM_001429.4(EP300):c.5061+10G>A rs78432056 0.00135
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) rs148262378 0.00135
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys) rs141280063 0.00135
NM_006019.4(TCIRG1):c.528C>A (p.Pro176=) rs538805960 0.00135
NM_012254.3(SLC27A5):c.899-6C>T rs200114980 0.00135
NM_016219.5(MAN1B1):c.337T>C (p.Phe113Leu) rs147529965 0.00135
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508 0.00135
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130 0.00135
NM_025136.4(OPA3):c.478C>T (p.Arg160Cys) rs137978109 0.00135
NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=) rs183447491 0.00135
NM_182961.4(SYNE1):c.2881C>T (p.Arg961Trp) rs201146062 0.00135
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221 0.00134
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000208.4(INSR):c.2736G>A (p.Arg912=) rs147125937 0.00134
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=) rs200799870 0.00134
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_001122769.3(LCA5):c.2026G>T (p.Asp676Tyr) rs143582502 0.00134
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) rs114986640 0.00134
NM_001164508.2(NEB):c.1206C>T (p.Cys402=) rs199695976 0.00134
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=) rs371802557 0.00134
NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val) rs146767076 0.00134
NM_001267550.2(TTN):c.8902+14T>A rs13388274 0.00134
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr) rs72647885 0.00134
NM_001848.3(COL6A1):c.2220G>A (p.Pro740=) rs138976133 0.00134
NM_001999.4(FBN2):c.8364+7A>T rs185052980 0.00134
NM_005957.5(MTHFR):c.708C>T (p.Phe236=) rs34279942 0.00134
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) rs142967124 0.00134
NM_016729.3(FOLR1):c.493+2T>C rs144637717 0.00134
NM_025074.7(FRAS1):c.4958C>T (p.Pro1653Leu) rs6813102 0.00134
NM_153676.4(USH1C):c.1906C>T (p.Arg636Cys) rs149510892 0.00134
NM_182961.4(SYNE1):c.23480C>G (p.Ala7827Gly) rs141315921 0.00134
NM_201384.3(PLEC):c.174+10del rs528031000 0.00134
NM_000243.3(MEFV):c.986G>A (p.Arg329His) rs104895112 0.00133
NM_000258.3(MYL3):c.81T>C (p.Pro27=) rs147584015 0.00133
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440 0.00133
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576 0.00133
NM_001039141.3(TRIOBP):c.4139A>G (p.Glu1380Gly) rs202059880 0.00133
NM_001130438.3(SPTAN1):c.7392G>A (p.Ala2464=) rs149318543 0.00133
NM_001170629.2(CHD8):c.5390+10A>T rs181227407 0.00133
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959 0.00133
NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln) rs200431386 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_001367624.2(ZNF469):c.8788G>T (p.Asp2930Tyr) rs76792613 0.00133
NM_001384474.1(LOXHD1):c.1961C>T (p.Pro654Leu) rs369297699 0.00133
NM_001458.5(FLNC):c.6005-9T>C rs118124743 0.00133
NM_001851.6(COL9A1):c.1288-9A>G rs181039243 0.00133
NM_002133.3(HMOX1):c.330C>T (p.Ala110=) rs150515195 0.00133
NM_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014 0.00133
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) rs141553918 0.00133
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628 0.00133
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg) rs142736845 0.00133
NM_006790.3(MYOT):c.981T>C (p.Asn327=) rs148479015 0.00133
NM_007254.4(PNKP):c.1491C>T (p.Ala497=) rs116192442 0.00133
NM_007317.3(KIF22):c.12C>T (p.Gly4=) rs374699250 0.00133
NM_014014.5(SNRNP200):c.5766C>T (p.Leu1922=) rs147427344 0.00133
NM_014467.3(SRPX2):c.1373G>A (p.Arg458Gln) rs146051561 0.00133
NM_022455.5(NSD1):c.2835T>C (p.Ser945=) rs145987330 0.00133
NM_025074.7(FRAS1):c.11264C>T (p.Pro3755Leu) rs199510509 0.00133
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_032119.4(ADGRV1):c.3303A>G (p.Val1101=) rs80069610 0.00133
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
NM_182914.3(SYNE2):c.11313G>C (p.Gln3771His) rs144596211 0.00133
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=) rs35379711 0.00133
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met) rs111033393 0.00133
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_000276.4(OCRL):c.39+10G>A rs765141317 0.00132
NM_000290.4(PGAM2):c.310G>A (p.Ala104Thr) rs150570281 0.00132
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446 0.00132
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr) rs142614369 0.00132
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=) rs144256966 0.00132
NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn) rs182151153 0.00132
NM_001200.4(BMP2):c.552G>A (p.Ser184=) rs142811428 0.00132
NM_001267550.2(TTN):c.58869A>G (p.Lys19623=) rs191066933 0.00132
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) rs187327463 0.00132
NM_004415.4(DSP):c.3696C>A (p.Ser1232=) rs141120358 0.00132
NM_005445.4(SMC3):c.2329T>C (p.Leu777=) rs76625999 0.00132
NM_016239.4(MYO15A):c.2194C>T (p.Pro732Ser) rs376451611 0.00132
NM_019066.5(MAGEL2):c.1304C>T (p.Pro435Leu) rs2233062 0.00132
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399 0.00132
NM_182961.4(SYNE1):c.9655G>A (p.Val3219Ile) rs140927945 0.00132
NM_201384.3(PLEC):c.11524G>A (p.Glu3842Lys) rs187011732 0.00132
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230 0.00131
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=) rs375628894 0.00131
NM_001127671.2(LIFR):c.364A>G (p.Thr122Ala) rs145163157 0.00131
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser) rs186681106 0.00131
NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile) rs578191491 0.00131
NM_001278116.2(L1CAM):c.396C>T (p.Ala132=) rs144708625 0.00131
NM_001367624.2(ZNF469):c.9516C>T (p.Ala3172=) rs577913880 0.00131
NM_001370298.3(FGD4):c.2560G>A (p.Val854Met) rs61753359 0.00131
NM_001458.5(FLNC):c.7862G>A (p.Arg2621Gln) rs201636548 0.00131
NM_001848.3(COL6A1):c.2865C>T (p.Ile955=) rs138062080 0.00131
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser) rs150966847 0.00131
NM_002878.4(RAD51D):c.666A>G (p.Glu222=) rs114012742 0.00131
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp) rs150165484 0.00131
NM_005529.7(HSPG2):c.204C>A (p.Asp68Glu) rs1869780 0.00131
NM_014140.4(SMARCAL1):c.2528+5G>C rs145908212 0.00131
NM_014244.5(ADAMTS2):c.94C>T (p.Pro32Ser) rs547548078 0.00131
NM_019066.5(MAGEL2):c.406G>A (p.Gly136Arg) rs570335069 0.00131
NM_020451.3(SELENON):c.729G>A (p.Pro243=) rs139020143 0.00131
NM_024408.4(NOTCH2):c.6094C>A (p.His2032Asn) rs143236410 0.00131
NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe) rs201369510 0.00131
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn) rs201386977 0.00131
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=) rs184127858 0.00131
NM_000875.5(IGF1R):c.3918C>T (p.Asp1306=) rs34364279 0.00130
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002 0.00130
NM_001267550.2(TTN):c.24195C>T (p.Ser8065=) rs182425565 0.00130
NM_001267550.2(TTN):c.29541C>T (p.Phe9847=) rs56812642 0.00130
NM_002180.3(IGHMBP2):c.132C>T (p.Gly44=) rs78807992 0.00130
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_006201.5(CDK16):c.727C>T (p.Leu243=) rs145117961 0.00130
NM_015175.3(NBEAL2):c.1948G>A (p.Gly650Arg) rs201373710 0.00130
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543 0.00130
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_172364.5(CACNA2D4):c.2095C>T (p.Leu699Phe) rs151121191 0.00130
NM_000392.5(ABCC2):c.3026T>C (p.Ile1009Thr) rs57351269 0.00129
NM_000489.6(ATRX):c.4239A>G (p.Glu1413=) rs141974120 0.00129
NM_001193315.2(VIPAS39):c.1455C>A (p.Ser485Arg) rs145453157 0.00129
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_001267550.2(TTN):c.1938+10G>C rs190935632 0.00129
NM_001267550.2(TTN):c.32555-6T>C rs375742678 0.00129
NM_001277115.2(DNAH11):c.2486G>A (p.Arg829His) rs201261243 0.00129
NM_001365951.3(KIF1B):c.2115+6625G>A rs145248590 0.00129
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=) rs370627443 0.00129
NM_001492.6(GDF1):c.55C>G (p.Leu19Val) rs370986101 0.00129
NM_002547.3(OPHN1):c.1839A>G (p.Glu613=) rs146588152 0.00129
NM_003322.6(TULP1):c.1376T>C (p.Ile459Thr) rs121909075 0.00129
NM_003392.7(WNT5A):c.14T>C (p.Ile5Thr) rs200914260 0.00129
NM_006306.4(SMC1A):c.1545+4A>C rs377270943 0.00129
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met) rs139872089 0.00129
NM_133379.5(TTN):c.14214C>T (p.Thr4738=) rs147513899 0.00129
NM_144991.3(TSPEAR):c.151G>A (p.Val51Ile) rs150016894 0.00129
NM_145239.3(PRRT2):c.612C>G (p.Pro204=) rs149260055 0.00129
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00129
NM_201384.3(PLEC):c.12876G>A (p.Val4292=) rs199509259 0.00129
NM_000159.4(GCDH):c.1143C>T (p.Ile381=) rs142553521 0.00128
NM_000929.3(PLA2G5):c.312T>C (p.His104=) rs149833360 0.00128
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn) rs201093148 0.00128
NM_001267550.2(TTN):c.1002C>T (p.Thr334=) rs148094198 0.00128
NM_001365536.1(SCN9A):c.3509T>C (p.Ile1170Thr) rs73019664 0.00128
NM_001377.3(DYNC2H1):c.3015A>G (p.Leu1005=) rs201310509 0.00128
NM_001848.3(COL6A1):c.2866G>A (p.Glu956Lys) rs149534094 0.00128
NM_001943.5(DSG2):c.1875G>C (p.Leu625=) rs35743180 0.00128
NM_002180.3(IGHMBP2):c.2730C>G (p.Gly910=) rs139416105 0.00128
NM_002693.3(POLG):c.2735-7C>G rs200372494 0.00128
NM_003680.4(YARS1):c.1291A>T (p.Met431Leu) rs149620809 0.00128
NM_004530.6(MMP2):c.1858G>A (p.Val620Ile) rs41459945 0.00128
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837 0.00128
NM_007254.4(PNKP):c.831G>A (p.Thr277=) rs148491228 0.00128
NM_014875.3(KIF14):c.346G>A (p.Glu116Lys) rs141768593 0.00128
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349 0.00128
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233 0.00128
NM_182961.4(SYNE1):c.14221C>T (p.Arg4741Cys) rs150062167 0.00128
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val) rs41562713 0.00127
NM_000458.4(HNF1B):c.951C>G (p.Ala317=) rs145750370 0.00127
NM_000492.4(CFTR):c.4242+10T>C rs138642693 0.00127
NM_000631.5(NCF4):c.271+7G>A rs201881905 0.00127
NM_000843.4(GRM6):c.1944G>T (p.Ala648=) rs62638619 0.00127
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=) rs61736168 0.00127
NM_001110556.2(FLNA):c.6023-10C>G rs72616474 0.00127
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His) rs140446520 0.00127
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NM_001292063.2(OTOG):c.7510G>A (p.Ala2504Thr) rs548278514 0.00127
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=) rs79392371 0.00127
NM_001457.4(FLNB):c.6000T>C (p.Gly2000=) rs140926445 0.00127
NM_002025.4(AFF2):c.2656C>G (p.Pro886Ala) rs151043891 0.00127
NM_003482.4(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524 0.00127
NM_006031.6(PCNT):c.5199G>A (p.Lys1733=) rs61735808 0.00127
NM_006204.4(PDE6C):c.742A>G (p.Asn248Asp) rs140524715 0.00127
NM_020366.4(RPGRIP1):c.542C>G (p.Ala181Gly) rs186266220 0.00127
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=) rs144557304 0.00127
NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg) rs144973796 0.00127
NM_182914.3(SYNE2):c.15445C>T (p.Arg5149Cys) rs143088941 0.00127
NM_182961.4(SYNE1):c.21781C>A (p.Arg7261=) rs138032057 0.00127
NM_194248.3(OTOF):c.578G>T (p.Arg193Ile) rs139779680 0.00127
NM_207361.6(FREM2):c.2740T>G (p.Cys914Gly) rs146685625 0.00127
NM_000218.3(KCNQ1):c.447C>T (p.Ala149=) rs146436765 0.00126
NM_000287.4(PEX6):c.1480-5C>T rs376473597 0.00126
NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=) rs139698110 0.00126
NM_000540.3(RYR1):c.7923C>G (p.Leu2641=) rs142558977 0.00126
NM_001127255.2(NLRP7):c.1082C>T (p.Ser361Leu) rs143169084 0.00126
NM_001458.5(FLNC):c.1813+11G>T rs138716837 0.00126
NM_002025.4(AFF2):c.3696A>T (p.Pro1232=) rs35967616 0.00126
NM_002900.3(RBP3):c.1795A>G (p.Ile599Val) rs144289912 0.00126
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590 0.00126
NM_005249.5(FOXG1):c.447C>T (p.Ala149=) rs112803404 0.00126
NM_005476.7(GNE):c.1872G>A (p.Ala624=) rs145361930 0.00126
NM_006269.2(RP1):c.6024A>G (p.Lys2008=) rs147680018 0.00126
NM_031433.4(MFRP):c.1014C>A (p.Ser338Arg) rs145319149 0.00126
NM_032119.4(ADGRV1):c.1086A>G (p.Leu362=) rs186639101 0.00126
NM_133261.3(GIPC3):c.856G>A (p.Val286Ile) rs138339125 0.00126
NM_181303.2(NLGN3):c.2034C>T (p.Tyr678=) rs143055854 0.00126
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu) rs138004884 0.00126
NM_206933.4(USH2A):c.8315C>T (p.Thr2772Ile) rs150807452 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_000327.4(ROM1):c.47G>A (p.Arg16His) rs143166696 0.00125
NM_000540.3(RYR1):c.94C>T (p.Leu32Phe) rs138630815 0.00125
NM_000823.4(GHRHR):c.512C>G (p.Thr171Ser) rs10227922 0.00125
NM_001079802.2(FKTN):c.166-4A>G rs193922689 0.00125
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595 0.00125
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met) rs115119858 0.00125
NM_001267550.2(TTN):c.426C>T (p.Ala142=) rs56137037 0.00125
NM_001384474.1(LOXHD1):c.1244T>G (p.Val415Gly) rs529972175 0.00125
NM_002024.6(FMR1):c.1572C>T (p.Ser524=) rs143889976 0.00125
NM_002900.3(RBP3):c.63C>T (p.His21=) rs146038948 0.00125
NM_004369.4(COL6A3):c.489G>A (p.Ala163=) rs148970984 0.00125
NM_007078.3(LDB3):c.689+10G>A rs45563234 0.00125
NM_014028.4(OSTM1):c.143C>G (p.Ser48Trp) rs201176284 0.00125
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=) rs146417316 0.00125
NM_018714.3(COG1):c.401C>T (p.Ser134Leu) rs146066919 0.00125
NM_021120.4(DLG3):c.409-4G>T rs188475429 0.00125
NM_030973.4(MED25):c.396C>T (p.Arg132=) rs142353864 0.00125
NM_057176.3(BSND):c.189C>T (p.Val63=) rs144505461 0.00125
NM_000093.5(COL5A1):c.1077G>A (p.Glu359=) rs201166370 0.00124
NM_000151.4(G6PC1):c.340+10C>A rs368450665 0.00124
NM_001042702.5(PJVK):c.250T>A (p.Ser84Thr) rs200507933 0.00124
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562 0.00124
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly) rs188093810 0.00124
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser) rs147580753 0.00124
NM_001378615.1(CC2D2A):c.2181+7A>C rs143681243 0.00124
NM_001458.5(FLNC):c.597C>T (p.Ala199=) rs143942649 0.00124
NM_002334.4(LRP4):c.639C>T (p.Asp213=) rs144974139 0.00124
NM_002472.3(MYH8):c.1209C>A (p.Cys403Ter) rs144321381 0.00124
NM_003482.4(KMT2D):c.6733C>G (p.Leu2245Val) rs201931833 0.00124
NM_003482.4(KMT2D):c.9726C>T (p.Ala3242=) rs183688784 0.00124
NM_004006.3(DMD):c.1888A>G (p.Thr630Ala) rs72468692 0.00124
NM_004006.3(DMD):c.5265C>T (p.Pro1755=) rs145515413 0.00124
NM_004369.4(COL6A3):c.6751C>T (p.Arg2251Trp) rs116690555 0.00124
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=) rs61731405 0.00124
NM_004727.3(SLC24A1):c.2445C>T (p.His815=) rs185027365 0.00124
NM_005445.4(SMC3):c.1671-6A>G rs200848781 0.00124
NM_006261.5(PROP1):c.471C>T (p.Tyr157=) rs145883811 0.00124
NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser) rs139037316 0.00124
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg) rs115488133 0.00124
NM_015102.5(NPHP4):c.800A>T (p.His267Leu) rs201124357 0.00124
NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn) rs183272965 0.00124
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe) rs200542052 0.00124
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=) rs186394654 0.00124
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln) rs528000488 0.00124
NM_173602.3(DIP2B):c.2755C>A (p.Gln919Lys) rs151181050 0.00124
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter) rs200846354 0.00124
NM_198253.3(TERT):c.534C>T (p.Leu178=) rs370420108 0.00124
NM_000091.5(COL4A3):c.2886C>T (p.Phe962=) rs77846212 0.00123
NM_000168.6(GLI3):c.1671C>T (p.Tyr557=) rs143948870 0.00123
NM_000414.4(HSD17B4):c.1210-8T>C rs34254740 0.00123
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_001005361.3(DNM2):c.238C>T (p.His80Tyr) rs148790687 0.00123
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=) rs201825451 0.00123
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060 0.00123
NM_001267550.2(TTN):c.2764C>T (p.Arg922Cys) rs72647862 0.00123
NM_001376.5(DYNC1H1):c.9264-8T>G rs368432468 0.00123
NM_001378120.1(MBD5):c.3978C>T (p.Val1326=) rs35692977 0.00123
NM_001378615.1(CC2D2A):c.2813T>C (p.Met938Thr) rs61740537 0.00123
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=) rs79023226 0.00123
NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp) rs76368635 0.00123
NM_003865.3(HESX1):c.525G>A (p.Ala175=) rs141063672 0.00123
NM_004447.6(EPS8):c.1638C>T (p.Asn546=) rs149455769 0.00123
NM_005045.4(RELN):c.3123C>T (p.Gly1041=) rs41276148 0.00123
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) rs71539668 0.00123
NM_006059.4(LAMC3):c.2066C>T (p.Pro689Leu) rs113443891 0.00123
NM_006662.3(SRCAP):c.4189A>G (p.Ile1397Val) rs144657822 0.00123
NM_016008.4(DYNC2LI1):c.508-4G>A rs201151187 0.00123
NM_016239.4(MYO15A):c.6186C>A (p.Ala2062=) rs141475629 0.00123
NM_017534.6(MYH2):c.3127T>G (p.Ser1043Ala) rs11658164 0.00123
NM_021120.4(DLG3):c.429C>T (p.Phe143=) rs144225009 0.00123
NM_022437.3(ABCG8):c.1785C>T (p.Phe595=) rs139677898 0.00123
NM_030665.4(RAI1):c.840G>A (p.Gln280=) rs398124421 0.00123
NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala) rs200055351 0.00123
NM_133497.4(KCNV2):c.612G>A (p.Glu204=) rs186159326 0.00123
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_194248.3(OTOF):c.339C>T (p.Cys113=) rs139098225 0.00123
NM_201384.3(PLEC):c.9034G>A (p.Glu3012Lys) rs200898220 0.00123
NM_000260.4(MYO7A):c.4845C>A (p.Pro1615=) rs61900036 0.00122
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683 0.00122
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile) rs140769712 0.00122
NM_000744.7(CHRNA4):c.978C>T (p.Phe326=) rs76270730 0.00122
NM_001010892.3(RSPH4A):c.1990C>T (p.Pro664Ser) rs146142715 0.00122
NM_001114086.2(CLIC5):c.361G>A (p.Ala121Thr) rs189893797 0.00122
NM_001267550.2(TTN):c.105183G>A (p.Ala35061=) rs371075036 0.00122
NM_001267550.2(TTN):c.25134A>G (p.Ala8378=) rs371819104 0.00122
NM_001849.4(COL6A2):c.2683A>C (p.Ser895Arg) rs141233891 0.00122
NM_004369.4(COL6A3):c.4090G>A (p.Val1364Met) rs35524572 0.00122
NM_005529.7(HSPG2):c.11169C>T (p.Phe3723=) rs139033413 0.00122
NM_006302.3(MOGS):c.2055T>C (p.Tyr685=) rs202094225 0.00122
NM_006432.5(NPC2):c.88G>A (p.Val30Met) rs151220873 0.00122
NM_012232.6(CAVIN1):c.923A>G (p.Tyr308Cys) rs146799286 0.00122
NM_014140.4(SMARCAL1):c.1851+5G>A rs2066514 0.00122
NM_020822.3(KCNT1):c.3256G>A (p.Gly1086Arg) rs201156458 0.00122
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260 0.00121
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944 0.00121
NM_000426.4(LAMA2):c.8692A>C (p.Arg2898=) rs200718262 0.00121
NM_001008216.2(GALE):c.956G>A (p.Gly319Glu) rs28940885 0.00121
NM_001061.7(TBXAS1):c.1394G>A (p.Arg465Gln) rs41311778 0.00121
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr) rs114250691 0.00121
NM_001142800.2(EYS):c.5335G>A (p.Gly1779Ser) rs186499459 0.00121
NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val) rs138231868 0.00121
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520 0.00121
NM_001267550.2(TTN):c.76645G>A (p.Gly25549Ser) rs181166140 0.00121
NM_001374385.1(ATP8B1):c.2021T>C (p.Met674Thr) rs35470719 0.00121
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=) rs147831309 0.00121
NM_002900.3(RBP3):c.299C>T (p.Pro100Leu) rs143076262 0.00121
NM_005120.3(MED12):c.5400+6C>T rs192656109 0.00121
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_005343.4(HRAS):c.357C>T (p.Asp119=) rs111352454 0.00121
NM_006445.4(PRPF8):c.52C>T (p.Leu18=) rs148531352 0.00121
NM_006662.3(SRCAP):c.3097T>C (p.Ser1033Pro) rs202000509 0.00121
NM_015102.5(NPHP4):c.3168C>T (p.His1056=) rs376351293 0.00121
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile) rs148171058 0.00121
NM_032119.4(ADGRV1):c.11805C>T (p.Asn3935=) rs144269892 0.00121
NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln) rs140621272 0.00121
NM_153026.3(PRICKLE1):c.1461C>T (p.Ser487=) rs116197349 0.00121
NM_153240.5(NPHP3):c.3189A>G (p.Lys1063=) rs112386774 0.00121
NM_153240.5(NPHP3):c.3570+9G>T rs112749193 0.00121
NM_153240.5(NPHP3):c.3971T>C (p.Phe1324Ser) rs113364886 0.00121
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558 0.00121
NM_198525.3(KIF7):c.3738C>G (p.Pro1246=) rs144929293 0.00121
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile) rs142481947 0.00121
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=) rs145483148 0.00120
NM_000392.5(ABCC2):c.998A>G (p.Asp333Gly) rs17222674 0.00120
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=) rs200800133 0.00120
NM_001127496.3(SPRY4):c.461A>G (p.Lys154Arg) rs78310959 0.00120
NM_001145809.2(MYH14):c.1944C>T (p.Asp648=) rs189243324 0.00120
NM_001189.4(NKX3-2):c.520G>C (p.Val174Leu) rs559539989 0.00120
NM_001194998.2(CEP152):c.767T>C (p.Ile256Thr) rs201217824 0.00120
NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr) rs112217391 0.00120
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile) rs150860808 0.00120
NM_001378452.1(ITPR1):c.4837T>C (p.Leu1613=) rs367643585 0.00120
NM_003193.5(TBCE):c.585C>T (p.Ser195=) rs139440109 0.00120
NM_017882.3(CLN6):c.53C>T (p.Ala18Val) rs547125345 0.00120
NM_018668.5(VPS33B):c.357G>A (p.Lys119=) rs146758743 0.00120
NM_024596.5(MCPH1):c.1236T>C (p.Tyr412=) rs142858644 0.00120
NM_052989.3(IFT122):c.3244A>G (p.Ile1082Val) rs143490747 0.00120
NM_153240.5(NPHP3):c.3093A>G (p.Glu1031=) rs112300370 0.00120
NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile) rs139747674 0.00120
NM_201384.3(PLEC):c.9333G>A (p.Gly3111=) rs188739870 0.00120
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser) rs142786231 0.00120
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=) rs79811945 0.00119
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys) rs140901235 0.00119
NM_001110792.2(MECP2):c.246C>T (p.Ser82=) rs61754439 0.00119
NM_001134407.3(GRIN2A):c.903C>T (p.Thr301=) rs78241448 0.00119
NM_001164508.2(NEB):c.12C>T (p.Asp4=) rs117178114 0.00119
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=) rs200088963 0.00119
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His) rs200971254 0.00119
NM_001367916.1(MAGT1):c.932T>G (p.Val311Gly) rs145245774 0.00119
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=) rs138770431 0.00119
NM_001458.5(FLNC):c.4947C>T (p.Gly1649=) rs201069454 0.00119
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387 0.00119
NM_004006.3(DMD):c.5620G>A (p.Glu1874Lys) rs142441725 0.00119
NM_005677.4(COLQ):c.106+6T>C rs201376373 0.00119
NM_014845.6(FIG4):c.627A>G (p.Leu209=) rs140111406 0.00119
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035 0.00119
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_032119.4(ADGRV1):c.207+3A>G rs142356935 0.00119
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile) rs150861748 0.00119
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896 0.00118
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter) rs11574410 0.00118
NM_001017995.3(SH3PXD2B):c.2541C>T (p.Ala847=) rs143850475 0.00118
NM_001017995.3(SH3PXD2B):c.698C>T (p.Thr233Ile) rs149519060 0.00118
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721 0.00118
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys) rs3764758 0.00118
NM_001191061.2(SLC25A22):c.618G>A (p.Pro206=) rs150544061 0.00118
NM_001194998.2(CEP152):c.644G>A (p.Ser215Asn) rs200957146 0.00118
NM_001194998.2(CEP152):c.925A>C (p.Lys309Gln) rs199862615 0.00118
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr) rs187925021 0.00118
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) rs72646808 0.00118
NM_001793.6(CDH3):c.1681G>A (p.Val561Met) rs151198926 0.00118
NM_001849.4(COL6A2):c.1970-3C>A rs201879417 0.00118
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841 0.00118
NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu) rs149302006 0.00118
NM_003332.4(TYROBP):c.238C>T (p.Arg80Trp) rs140188939 0.00118
NM_004994.3(MMP9):c.1891C>A (p.Arg631Ser) rs201280938 0.00118
NM_005333.5(HCCS):c.5G>A (p.Gly2Asp) rs144641429 0.00118
NM_005529.7(HSPG2):c.12842G>A (p.Arg4281His) rs151184052 0.00118
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu) rs45449298 0.00118
NM_014425.5(INVS):c.2310C>T (p.His770=) rs116606949 0.00118
NM_014467.3(SRPX2):c.840G>A (p.Ala280=) rs139377205 0.00118
NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His) rs74957591 0.00118
NM_018136.5(ASPM):c.7620A>G (p.Ala2540=) rs147160053 0.00118
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) rs121964926 0.00118
NM_033028.5(BBS4):c.208A>G (p.Ile70Val) rs142692981 0.00118
NM_145239.3(PRRT2):c.133C>T (p.Pro45Ser) rs11556732 0.00118
NM_178452.6(DNAAF1):c.1031-5A>T rs79772571 0.00118
NM_198253.3(TERT):c.2769G>A (p.Pro923=) rs200174990 0.00118
NM_201384.3(PLEC):c.3885G>A (p.Pro1295=) rs148465219 0.00118
NM_207361.6(FREM2):c.9038C>T (p.Thr3013Met) rs114400765 0.00118
NM_000180.4(GUCY2D):c.369C>T (p.Gly123=) rs529594203 0.00117
NM_000293.3(PHKB):c.1459-9G>T rs201995780 0.00117
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276 0.00117
NM_001037.5(SCN1B):c.588T>C (p.Asn196=) rs77244433 0.00117
NM_001164508.2(NEB):c.8202C>T (p.Val2734=) rs144595998 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_001457.4(FLNB):c.6047G>A (p.Arg2016Gln) rs137885421 0.00117
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) rs145644275 0.00117
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143 0.00117
NM_017777.4(MKS1):c.261+7C>T rs200156751 0.00117
NM_020661.4(AICDA):c.48A>G (p.Lys16=) rs186739900 0.00117
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) rs149506027 0.00117
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_201384.3(PLEC):c.12784G>A (p.Val4262Ile) rs142946078 0.00117
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) rs143523271 0.00116
NM_000233.4(LHCGR):c.1360G>A (p.Val454Ile) rs114320052 0.00116
NM_000255.4(MMUT):c.393G>A (p.Gln131=) rs145682249 0.00116
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655 0.00116
NM_000426.4(LAMA2):c.255C>T (p.Ile85=) rs142083777 0.00116
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr) rs45490792 0.00116
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_001039141.3(TRIOBP):c.3068C>T (p.Ala1023Val) rs201681832 0.00116
NM_001164508.2(NEB):c.4221G>A (p.Gln1407=) rs6709752 0.00116
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958 0.00116
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_001354712.2(THRB):c.532+8G>C rs146617205 0.00116
NM_001378609.3(OTOGL):c.860C>T (p.Ser287Leu) rs147195954 0.00116
NM_001457.4(FLNB):c.2493C>T (p.Pro831=) rs145952210 0.00116
NM_001458.5(FLNC):c.6309C>T (p.Thr2103=) rs376992044 0.00116
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg) rs200710788 0.00116
NM_001853.4(COL9A3):c.891C>T (p.Ser297=) rs142412708 0.00116
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val) rs140317560 0.00116
NM_003742.4(ABCB11):c.3548T>C (p.Ile1183Thr) rs143484849 0.00116
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=) rs144832179 0.00116
NM_004646.4(NPHS1):c.658T>G (p.Ser220Ala) rs115333628 0.00116
NM_005477.3(HCN4):c.1356C>T (p.Ser452=) rs148453034 0.00116
NM_005506.4(SCARB2):c.246G>C (p.Arg82=) rs35035064 0.00116
NM_006343.3(MERTK):c.960+9C>A rs373198570 0.00116
NM_006383.4(CIB2):c.231G>A (p.Ala77=) rs144346527 0.00116
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787 0.00116
NM_016169.4(SUFU):c.600C>T (p.Ile200=) rs149513330 0.00116
NM_016929.5(CLIC5):c.326G>A (p.Arg109Gln) rs117204561 0.00116
NM_018668.5(VPS33B):c.944G>A (p.Arg315Gln) rs145303578 0.00116
NM_130837.3(OPA1):c.239A>G (p.Tyr80Cys) rs151103940 0.00116
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00116
NM_182914.3(SYNE2):c.7163A>G (p.Glu2388Gly) rs45590135 0.00116
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile) rs141858284 0.00116
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=) rs146424389 0.00116
NM_201384.3(PLEC):c.7753G>C (p.Glu2585Gln) rs200488179 0.00116
NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter) rs149266909 0.00116
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu) rs201089582 0.00116
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00115
NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr) rs145968118 0.00115
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681 0.00115
NM_000337.6(SGCD):c.213G>A (p.Arg71=) rs74846539 0.00115
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=) rs150380620 0.00115
NM_001039141.3(TRIOBP):c.634G>A (p.Gly212Ser) rs201794404 0.00115
NM_001042432.2(CLN3):c.318C>T (p.Leu106=) rs148248159 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_001287.6(CLCN7):c.1806C>T (p.Tyr602=) rs112753643 0.00115
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg) rs147236883 0.00115
NM_001377295.2(GNAT2):c.147C>T (p.Ile49=) rs146945932 0.00115
NM_001378120.1(MBD5):c.1368G>T (p.Ser456=) rs146020786 0.00115
NM_001807.6(CEL):c.2172del (p.Val725fs) rs780419796 0.00115
NM_002024.6(FMR1):c.1857C>T (p.Asp619=) rs45540244 0.00115
NM_003073.5(SMARCB1):c.444C>T (p.Ser148=) rs138184483 0.00115
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_003383.5(VLDLR):c.242A>G (p.Asn81Ser) rs140526335 0.00115
NM_006031.6(PCNT):c.6957T>G (p.Phe2319Leu) rs61735813 0.00115
NM_006208.3(ENPP1):c.1056T>G (p.Ala352=) rs150279426 0.00115
NM_014780.5(CUL7):c.1859C>T (p.Pro620Leu) rs147326417 0.00115
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu) rs141715950 0.00115
NM_025074.7(FRAS1):c.108+10T>G rs76831011 0.00115
NM_032119.4(ADGRV1):c.2023A>C (p.Ile675Leu) rs200187681 0.00115
NM_138694.4(PKHD1):c.11130C>T (p.Ile3710=) rs146224907 0.00115
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322 0.00114
NM_000340.2(SLC2A2):c.1087G>T (p.Ala363Ser) rs76362149 0.00114
NM_001038603.3(MARVELD2):c.389T>A (p.Leu130His) rs144717803 0.00114
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385 0.00114
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=) rs16009 0.00114
NM_001164508.2(NEB):c.17510A>G (p.Lys5837Arg) rs201962649 0.00114
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) rs145296488 0.00114
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=) rs138968178 0.00114
NM_001378454.1(ALMS1):c.10788G>C (p.Val3596=) rs45445398 0.00114
NM_002485.5(NBN):c.1317A>G (p.Ile439Met) rs28538230 0.00114
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514 0.00114
NM_004183.4(BEST1):c.624G>A (p.Gln208=) rs150247275 0.00114
NM_005055.5(RAPSN):c.474C>T (p.Asp158=) rs56245238 0.00114
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) rs143558324 0.00114
NM_005562.3(LAMC2):c.196G>A (p.Glu66Lys) rs146325169 0.00114
NM_014780.5(CUL7):c.1067G>A (p.Arg356His) rs146227929 0.00114
NM_018136.5(ASPM):c.4436A>G (p.Lys1479Arg) rs115594989 0.00114
NM_018668.5(VPS33B):c.1148T>C (p.Ile383Thr) rs149121639 0.00114
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276 0.00114
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_000138.5(FBN1):c.7950T>C (p.Asn2650=) rs143055643 0.00113
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359 0.00113
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938 0.00113
NM_000286.3(PEX12):c.452G>A (p.Arg151His) rs150186509 0.00113
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00113
NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys) rs61739911 0.00113
NM_001004334.4(GPR179):c.3401G>A (p.Arg1134Gln) rs112987826 0.00113
NM_001083961.2(WDR62):c.3440A>G (p.Tyr1147Cys) rs146867414 0.00113
NM_001110219.3(GJB6):c.15G>A (p.Thr5=) rs150075979 0.00113
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr) rs141867897 0.00113
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) rs201218828 0.00113
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) rs140640738 0.00113
NM_001267550.2(TTN):c.56970T>C (p.Pro18990=) rs372019333 0.00113
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) rs149567378 0.00113
NM_001298.3(CNGA3):c.1618G>A (p.Val540Ile) rs116448158 0.00113
NM_001353214.3(DYM):c.1868G>A (p.Arg623Gln) rs138427861 0.00113
NM_001364905.1(LRBA):c.6887C>A (p.Thr2296Asn) rs151286835 0.00113
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu) rs45495192 0.00113
NM_004006.3(DMD):c.1513G>C (p.Val505Leu) rs140340626 0.00113
NM_004006.3(DMD):c.2745A>C (p.Thr915=) rs149922633 0.00113
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883 0.00113
NM_004625.4(WNT7A):c.213C>T (p.Asp71=) rs75651130 0.00113
NM_006269.2(RP1):c.4030T>C (p.Phe1344Leu) rs146256526 0.00113
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys) rs3747835 0.00113
NM_020754.4(ARHGAP31):c.936T>C (p.Arg312=) rs200813566 0.00113
NM_030665.4(RAI1):c.972G>A (p.Pro324=) rs138675466 0.00113
NM_138694.4(PKHD1):c.281+3A>G rs79803080 0.00113
NM_198999.3(SLC26A5):c.1944A>C (p.Gln648His) rs148546326 0.00113
NM_201525.4(ADGRG1):c.1983T>C (p.Gly661=) rs111939130 0.00113
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln) rs138187791 0.00113
NM_000093.5(COL5A1):c.3204+3G>A rs202054108 0.00112
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507 0.00112
NM_000452.3(SLC10A2):c.66T>C (p.Pro22=) rs138387807 0.00112
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654 0.00112
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) rs41292592 0.00112
NM_001146079.2(CLDN14):c.406G>A (p.Val136Ile) rs140918123 0.00112
NM_001429.4(EP300):c.5147G>C (p.Ser1716Thr) rs147676363 0.00112
NM_001849.4(COL6A2):c.2599C>T (p.Arg867Trp) rs144484744 0.00112
NM_004369.4(COL6A3):c.9524T>C (p.Met3175Thr) rs148183839 0.00112
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser) rs115259839 0.00112
NM_022081.6(HPS4):c.557C>T (p.Ser186Leu) rs61729175 0.00112
NM_080680.3(COL11A2):c.1612-10G>C rs182657680 0.00112
NM_201384.3(PLEC):c.4556C>T (p.Ser1519Leu) rs182120395 0.00112
NM_206933.4(USH2A):c.2094C>T (p.Thr698=) rs141489104 0.00112
NM_000195.5(HPS1):c.198G>A (p.Ser66=) rs115265574 0.00111
NM_000252.3(MTM1):c.339T>C (p.Cys113=) rs147644722 0.00111
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser) rs144873307 0.00111
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_001039141.3(TRIOBP):c.2811C>T (p.Ile937=) rs115800799 0.00111
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122 0.00111
NM_001048166.1(STIL):c.2362G>A (p.Val788Ile) rs149697952 0.00111
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu) rs139944375 0.00111
NM_001164508.2(NEB):c.5747T>C (p.Met1916Thr) rs142540692 0.00111
NM_001252024.2(TRPM1):c.2953A>C (p.Met985Leu) rs181499296 0.00111
NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp) rs55857742 0.00111
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722 0.00111
NM_001267550.2(TTN):c.8314G>A (p.Val2772Met) rs143035953 0.00111
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=) rs142891278 0.00111
NM_001367624.2(ZNF469):c.2297G>A (p.Arg766Gln) rs144492145 0.00111
NM_001374385.1(ATP8B1):c.1014C>T (p.Asn338=) rs145750280 0.00111
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496 0.00111
NM_001852.4(COL9A2):c.1576G>A (p.Val526Met) rs141556170 0.00111
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) rs149082597 0.00111
NM_002427.4(MMP13):c.1335C>T (p.Asn445=) rs145432284 0.00111
NM_004530.6(MMP2):c.1569A>G (p.Val523=) rs115179673 0.00111
NM_005751.5(AKAP9):c.10767G>A (p.Leu3589=) rs56198613 0.00111
NM_012254.3(SLC27A5):c.937C>T (p.Leu313=) rs143272701 0.00111
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter) rs147398904 0.00111
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00111
NM_198506.5(LRIT3):c.1182A>G (p.Thr394=) rs184650144 0.00111
NM_000274.4(OAT):c.969C>T (p.Tyr323=) rs138895801 0.00110
NM_001267550.2(TTN):c.107605A>G (p.Ser35869Gly) rs201835888 0.00110
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_001267550.2(TTN):c.5668C>T (p.Arg1890Cys) rs146496197 0.00110
NM_001267550.2(TTN):c.66898G>A (p.Val22300Ile) rs200343420 0.00110
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00110
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) rs34193178 0.00110
NM_001852.4(COL9A2):c.1041C>T (p.Gly347=) rs138882727 0.00110
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) rs201255083 0.00110
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_003896.4(ST3GAL5):c.155G>A (p.Arg52Gln) rs141917910 0.00110
NM_004086.3(COCH):c.629+5C>T rs202109231 0.00110
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455 0.00110
NM_004817.4(TJP2):c.1877C>G (p.Thr626Ser) rs149911553 0.00110
NM_006941.4(SOX10):c.72C>T (p.Ser24=) rs763019569 0.00110
NM_015166.4(MLC1):c.628G>A (p.Val210Ile) rs11568178 0.00110
NM_015192.4(PLCB1):c.1491C>T (p.Phe497=) rs145869401 0.00110
NM_016239.4(MYO15A):c.9691-3C>A rs142996507 0.00110
NM_133261.3(GIPC3):c.4G>A (p.Glu2Lys) rs764467903 0.00110
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=) rs35686213 0.00110
NM_201384.3(PLEC):c.5391C>T (p.Arg1797=) rs551187778 0.00110
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493 0.00109
NM_000059.4(BRCA2):c.1911T>C (p.Gly637=) rs11571652 0.00109
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824 0.00109
NM_000162.5(GCK):c.660C>T (p.Cys220=) rs142952813 0.00109
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030 0.00109
NM_000525.4(KCNJ11):c.678C>T (p.Pro226=) rs74162102 0.00109
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=) rs45487992 0.00109
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=) rs142483266 0.00109
NM_001164508.2(NEB):c.2283C>T (p.Ala761=) rs373946448 0.00109
NM_001256317.3(TMPRSS3):c.715T>C (p.Tyr239His) rs149001183 0.00109
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.57648C>T (p.Ile19216=) rs55956577 0.00109
NM_001304438.2(TMEM132E):c.1572C>T (p.Leu524=) rs149974755 0.00109
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=) rs56402642 0.00109
NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=) rs55923848 0.00109
NM_001384732.1(CPLANE1):c.6905C>T (p.Thr2302Met) rs34737149 0.00109
NM_002857.4(PEX19):c.181-5C>T rs199818690 0.00109
NM_004006.3(DMD):c.7571G>A (p.Arg2524His) rs151244052 0.00109
NM_005591.4(MRE11):c.426C>T (p.Asp142=) rs3218740 0.00109
NM_015631.6(TCTN3):c.1591-5C>T rs181107730 0.00109
NM_017837.4(PIGV):c.1277C>T (p.Pro426Leu) rs146969255 0.00109
NM_018136.5(ASPM):c.6125A>G (p.Asp2042Gly) rs150327858 0.00109
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln) rs141828689 0.00109
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647 0.00109
NM_203486.3(DLL3):c.63C>T (p.Leu21=) rs146255899 0.00109
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala) rs56091799 0.00108
NM_000137.4(FAH):c.565G>A (p.Val189Ile) rs145389125 0.00108
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192 0.00108
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00108
NM_001082538.3(TCTN1):c.1410C>T (p.Tyr470=) rs370336923 0.00108
NM_001130823.3(DNMT1):c.2676C>T (p.Phe892=) rs139861062 0.00108
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile) rs183130427 0.00108
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr) rs201767727 0.00108
NM_001164508.2(NEB):c.4834C>T (p.Arg1612Cys) rs200545007 0.00108
NM_001177316.2(SLC34A3):c.375C>T (p.Gly125=) rs142873841 0.00108
NM_001267550.2(TTN):c.12986G>A (p.Arg4329Lys) rs199560188 0.00108
NM_001267550.2(TTN):c.13287T>C (p.Ala4429=) rs370604524 0.00108
NM_001267550.2(TTN):c.15542G>C (p.Gly5181Ala) rs201185434 0.00108
NM_001267550.2(TTN):c.16055-9A>C rs368897883 0.00108
NM_001267550.2(TTN):c.16422A>G (p.Gln5474=) rs371026448 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_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) rs191484894 0.00108
NM_001384474.1(LOXHD1):c.177G>A (p.Thr59=) rs116413527 0.00108
NM_002335.4(LRP5):c.2193C>T (p.Asn731=) rs147388442 0.00108
NM_002335.4(LRP5):c.3990G>A (p.Ala1330=) rs147637431 0.00108
NM_002437.5(MPV17):c.239C>T (p.Thr80Ile) rs35759430 0.00108
NM_002979.5(SCP2):c.900C>T (p.Asp300=) rs148423275 0.00108
NM_003383.5(VLDLR):c.1901G>A (p.Arg634His) rs35339834 0.00108
NM_004415.4(DSP):c.2986-6T>A rs144748036 0.00108
NM_004530.6(MMP2):c.759C>T (p.Ser253=) rs148801200 0.00108
NM_004560.4(ROR2):c.1583G>A (p.Arg528Gln) rs142215888 0.00108
NM_014780.5(CUL7):c.136C>T (p.Arg46Trp) rs141692693 0.00108
NM_015426.5(POC1A):c.235G>A (p.Gly79Ser) rs35249554 0.00108
NM_018006.5(TRMU):c.296T>C (p.Ile99Thr) rs144054758 0.00108
NM_022455.5(NSD1):c.339C>T (p.Cys113=) rs77093936 0.00108
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) rs34489989 0.00108
NM_025074.7(FRAS1):c.641C>T (p.Pro214Leu) rs200053639 0.00108
NM_080669.6(SLC46A1):c.158C>T (p.Ala53Val) rs41297069 0.00108
NM_181882.3(PRX):c.823C>A (p.Leu275Ile) rs200033507 0.00108
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val) rs146636139 0.00108
NM_201384.3(PLEC):c.6438G>A (p.Ala2146=) rs374211586 0.00108
NM_201384.3(PLEC):c.7101G>A (p.Thr2367=) rs202132558 0.00108
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp) rs140895792 0.00108
NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met) rs139361545 0.00107
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser) rs147307031 0.00107
NM_000515.5(GH1):c.15C>T (p.Ser5=) rs111957225 0.00107
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) rs139848756 0.00107
NM_001128840.3(CACNA1D):c.2467G>A (p.Val823Met) rs35090700 0.00107
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln) rs188054898 0.00107
NM_001267550.2(TTN):c.12733A>C (p.Asn4245His) rs199652066 0.00107
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn) rs200692495 0.00107
NM_001267550.2(TTN):c.41166C>T (p.Asp13722=) rs143049740 0.00107
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met) rs150661999 0.00107
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln) rs184394424 0.00107
NM_001614.5(ACTG1):c.72C>T (p.Asp24=) rs139517777 0.00107
NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr) rs141980901 0.00107
NM_003482.4(KMT2D):c.1938C>G (p.Pro646=) rs147212187 0.00107
NM_003742.4(ABCB11):c.1636C>A (p.Gln546Lys) rs111482608 0.00107
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_006420.3(ARFGEF2):c.1888G>A (p.Val630Ile) rs146772848 0.00107
NM_006950.3(SYN1):c.1107C>T (p.Ile369=) rs150248483 0.00107
NM_007294.4(BRCA1):c.765G>A (p.Glu255=) rs62625299 0.00107
NM_014780.5(CUL7):c.4659G>A (p.Glu1553=) rs139243761 0.00107
NM_025114.4(CEP290):c.1716A>G (p.Leu572=) rs372349042 0.00107
NM_201384.3(PLEC):c.3070G>A (p.Ala1024Thr) rs376665854 0.00107
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907 0.00106
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) rs61736827 0.00106
NM_000142.5(FGFR3):c.1497C>T (p.Ala499=) rs140594137 0.00106
NM_000180.4(GUCY2D):c.3098C>T (p.Ser1033Leu) rs146149224 0.00106
NM_000337.6(SGCD):c.144G>C (p.Val48=) rs372152495 0.00106
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) rs148405563 0.00106
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_000787.4(DBH):c.339+2T>C rs74853476 0.00106
NM_001029883.3(PCARE):c.99G>A (p.Gln33=) rs146455733 0.00106
NM_001164508.2(NEB):c.8719G>A (p.Gly2907Ser) rs201707021 0.00106
NM_001193315.2(VIPAS39):c.136G>A (p.Val46Met) rs148360332 0.00106
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553 0.00106
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485 0.00106
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=) rs186699871 0.00106
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477 0.00106
NM_001365536.1(SCN9A):c.2409T>C (p.Tyr803=) rs142219317 0.00106
NM_001370298.3(FGD4):c.2070C>G (p.Ala690=) rs188104446 0.00106
NM_001395413.1(POR):c.1882G>A (p.Val628Ile) rs145782750 0.00106
NM_001458.5(FLNC):c.6998-5C>T rs139030003 0.00106
NM_001999.4(FBN2):c.4100-9G>T rs377002313 0.00106
NM_002381.5(MATN3):c.1171C>T (p.Arg391Cys) rs146599945 0.00106
NM_003482.4(KMT2D):c.1797G>A (p.Leu599=) rs113282510 0.00106
NM_004393.6(DAG1):c.278T>C (p.Ile93Thr) rs149218670 0.00106
NM_005333.5(HCCS):c.216G>C (p.Ala72=) rs144152239 0.00106
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met) rs145687082 0.00106
NM_005609.4(PYGM):c.999+20C>T rs201711087 0.00106
NM_005802.5(TOPORS):c.2525C>A (p.Thr842Asn) rs139859703 0.00106
NM_020436.5(SALL4):c.1287T>G (p.Phe429Leu) rs143818932 0.00106
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457 0.00106
NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu) rs201889290 0.00106
NM_031471.6(FERMT3):c.1893C>T (p.Ile631=) rs142025489 0.00106
NM_033100.4(CDHR1):c.2229G>A (p.Arg743=) rs150969538 0.00106
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339 0.00106
NM_139125.4(MASP1):c.501C>G (p.Ser167=) rs16861801 0.00106
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=) rs118158347 0.00106
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile) rs4870093 0.00106
NM_182961.4(SYNE1):c.21470G>A (p.Arg7157His) rs34963077 0.00106
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999 0.00106
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=) rs141671123 0.00106
NM_201253.3(CRB1):c.484G>A (p.Val162Met) rs137853138 0.00106
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861 0.00105
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) rs371914255 0.00105
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00105
NM_000784.4(CYP27A1):c.646+4C>T rs191313794 0.00105
NM_001080.3(ALDH5A1):c.1198G>A (p.Val400Ile) rs147358733 0.00105
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met) rs145956175 0.00105
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_001267550.2(TTN):c.61138C>A (p.Leu20380Met) rs201167216 0.00105
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=) rs72646852 0.00105
NM_001267550.2(TTN):c.91589C>T (p.Pro30530Leu) rs200875379 0.00105
NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn) rs146170855 0.00105
NM_001453.3(FOXC1):c.921C>T (p.Gly307=) rs369300819 0.00105
NM_001844.5(COL2A1):c.709-8G>T rs200757693 0.00105
NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg) rs199929757 0.00105
NM_002180.3(IGHMBP2):c.2844G>A (p.Gly948=) rs147918962 0.00105
NM_003919.3(SGCE):c.606A>G (p.Thr202=) rs148979783 0.00105
NM_005045.4(RELN):c.474-7T>C rs55693709 0.00105
NM_005413.4(SIX3):c.219C>T (p.Pro73=) rs186163123 0.00105
NM_016239.4(MYO15A):c.1552G>A (p.Glu518Lys) rs189255177 0.00105
NM_020717.5(SHROOM4):c.266G>A (p.Arg89Lys) rs148911180 0.00105
NM_020754.4(ARHGAP31):c.2359C>G (p.Pro787Ala) rs186621177 0.00105
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=) rs138388301 0.00105
NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met) rs146567178 0.00105
NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn) rs142388112 0.00105
NM_201384.3(PLEC):c.2844C>T (p.Pro948=) rs200482255 0.00105
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803 0.00105
NM_000271.5(NPC1):c.66A>G (p.Ser22=) rs144415945 0.00104
NM_000321.3(RB1):c.1961-12T>C rs201697122 0.00104
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_000543.5(SMPD1):c.762G>A (p.Leu254=) rs143939609 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.30384T>C (p.Asp10128=) rs188584219 0.00104
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr) rs144668626 0.00104
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840 0.00104
NM_001384732.1(CPLANE1):c.5928G>A (p.Gly1976=) rs34161326 0.00104
NM_001927.4(DES):c.18G>A (p.Ser6=) rs199972656 0.00104
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238 0.00104
NM_006445.4(PRPF8):c.306C>T (p.Leu102=) rs113874709 0.00104
NM_017882.3(CLN6):c.270C>T (p.Asn90=) rs145247814 0.00104
NM_024120.5(NDUFAF5):c.585T>C (p.Tyr195=) rs150955045 0.00104
NM_025193.4(HSD3B7):c.234C>T (p.Ala78=) rs143699328 0.00104
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe) rs41305898 0.00104
NM_130468.4(CHST14):c.807T>C (p.Asp269=) rs139229738 0.00104
NM_138638.5(CFL2):c.21G>A (p.Val7=) rs149700171 0.00104
NM_201253.3(CRB1):c.2103C>G (p.Pro701=) rs144436610 0.00104
NM_201384.3(PLEC):c.10203C>T (p.Pro3401=) rs201096903 0.00104
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840 0.00103
NM_000392.5(ABCC2):c.3614+6G>C rs17222716 0.00103
NM_000631.5(NCF4):c.172C>T (p.Arg58Cys) rs143532979 0.00103
NM_000795.4(DRD2):c.928C>T (p.Pro310Ser) rs1800496 0.00103
NM_001039348.3(EFEMP1):c.146A>C (p.Asp49Ala) rs55849640 0.00103
NM_001042432.2(CLN3):c.768C>T (p.Thr256=) rs145967477 0.00103
NM_001112704.2(VAX1):c.642G>A (p.Leu214=) rs554140675 0.00103
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=) rs147840220 0.00103
NM_001267550.2(TTN):c.101406C>G (p.Val33802=) rs55802460 0.00103
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=) rs56324602 0.00103
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr) rs142794598 0.00103
NM_001267550.2(TTN):c.22692A>T (p.Thr7564=) rs187182557 0.00103
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=) rs56293906 0.00103
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro) rs186273940 0.00103
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592 0.00103
NM_001267550.2(TTN):c.94283G>A (p.Arg31428His) rs149375775 0.00103
NM_001369.3(DNAH5):c.3021G>T (p.Leu1007Phe) rs188638970 0.00103
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=) rs150286673 0.00103
NM_002617.4(PEX10):c.601-27A>G rs144264865 0.00103
NM_002691.4(POLD1):c.3054G>A (p.Val1018=) rs369613619 0.00103
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=) rs546554430 0.00103
NM_004380.3(CREBBP):c.7302G>A (p.Thr2434=) rs144609433 0.00103
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459 0.00103
NM_004839.4(HOMER2):c.643C>T (p.Arg215Cys) rs199835958 0.00103
NM_005591.4(MRE11):c.1798G>C (p.Glu600Gln) rs145415033 0.00103
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=) rs148848282 0.00103
NM_015512.5(DNAH1):c.1351A>G (p.Lys451Glu) rs76591348 0.00103
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr) rs117390537 0.00103
NM_017617.5(NOTCH1):c.2604C>T (p.Val868=) rs115235667 0.00103
NM_018136.5(ASPM):c.9276T>C (p.Gly3092=) rs151142538 0.00103
NM_022041.4(GAN):c.1162C>T (p.Leu388=) rs73589395 0.00103
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr) rs140690030 0.00103
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_052859.4(RFT1):c.826+7T>C rs192264403 0.00103
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His) rs146555195 0.00103
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala) rs145565705 0.00103
NM_133642.5(LARGE1):c.408+8G>A rs141818070 0.00103
NM_182914.3(SYNE2):c.3235A>G (p.Thr1079Ala) rs192128801 0.00103
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=) rs140136749 0.00103
NM_198129.4(LAMA3):c.8829G>A (p.Arg2943=) rs141472847 0.00103
NM_205850.3(SLC24A5):c.1442T>C (p.Leu481Ser) rs146726548 0.00103
NM_206933.4(USH2A):c.2256T>C (p.His752=) rs111033281 0.00103
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=) rs147961615 0.00102
NM_001083961.2(WDR62):c.3231C>T (p.Pro1077=) rs187029707 0.00102
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=) rs76048624 0.00102
NM_001189.4(NKX3-2):c.148T>G (p.Cys50Gly) rs371597026 0.00102
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248 0.00102
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His) rs138853909 0.00102
NM_001267550.2(TTN):c.49998T>C (p.Asn16666=) rs376917681 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_001365536.1(SCN9A):c.1326G>A (p.Ala442=) rs200065104 0.00102
NM_001371623.1(TCOF1):c.1034A>G (p.Glu345Gly) rs150637771 0.00102
NM_001849.4(COL6A2):c.115+6del rs578127995 0.00102
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser) rs138392504 0.00102
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=) rs78484531 0.00102
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649 0.00102
NM_004608.4(TBX6):c.408C>T (p.Arg136=) rs149724027 0.00102
NM_006486.3(FBLN1):c.1925G>T (p.Arg642Leu) rs143377110 0.00102
NM_006516.4(SLC2A1):c.507C>T (p.Leu169=) rs115541691 0.00102
NM_013382.7(POMT2):c.1593G>A (p.Leu531=) rs147934334 0.00102
NM_014780.5(CUL7):c.3490C>T (p.Arg1164Trp) rs201135654 0.00102
NM_014908.4(DOLK):c.700A>G (p.Met234Val) rs139787271 0.00102
NM_015102.5(NPHP4):c.2653A>C (p.Ser885Arg) rs112206586 0.00102
NM_016366.3(CABP2):c.637+1G>T rs149712664 0.00102
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) rs137852987 0.00102
NM_080669.6(SLC46A1):c.22C>T (p.Pro8Ser) rs41297065 0.00102
NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp) rs146515622 0.00102
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=) rs137925439 0.00102
NM_173477.5(USH1G):c.715A>C (p.Lys239Gln) rs147967199 0.00102
NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe) rs138039375 0.00102
NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln) rs148008634 0.00102
NM_201599.3(ZMYM3):c.195C>G (p.Gly65=) rs139405380 0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000092.5(COL4A4):c.1776T>C (p.Ala592=) rs188655353 0.00101
NM_000100.4(CSTB):c.121G>A (p.Val41Met) rs143153487 0.00101
NM_000142.5(FGFR3):c.2043G>A (p.Gly681=) rs17883356 0.00101
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_000179.3(MSH6):c.984C>T (p.Ser328=) rs138143769 0.00101
NM_000231.3(SGCG):c.539A>T (p.Glu180Val) rs114160429 0.00101
NM_000286.3(PEX12):c.722G>T (p.Gly241Val) rs139417458 0.00101
NM_000444.6(PHEX):c.903C>T (p.Asn301=) rs142755818 0.00101
NM_000452.3(SLC10A2):c.108G>A (p.Thr36=) rs141524545 0.00101
NM_000489.6(ATRX):c.846C>T (p.Ser282=) rs148015780 0.00101
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767 0.00101
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994 0.00101
NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=) rs150266932 0.00101
NM_001170629.2(CHD8):c.871C>T (p.Leu291Phe) rs192989929 0.00101
NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser) rs201005813 0.00101
NM_001353108.3(CEP63):c.905C>G (p.Thr302Ser) rs142766824 0.00101
NM_001364905.1(LRBA):c.1713C>T (p.His571=) rs145812385 0.00101
NM_001377.3(DYNC2H1):c.6551A>T (p.Asp2184Val) rs201967064 0.00101
NM_001379286.1(ZNF423):c.807C>T (p.Asp269=) rs145503941 0.00101
NM_001429.4(EP300):c.6390G>A (p.Met2130Ile) rs147973806 0.00101
NM_001849.4(COL6A2):c.492C>T (p.His164=) rs140929054 0.00101
NM_003630.3(PEX3):c.578+8A>G rs200807211 0.00101
NM_003742.4(ABCB11):c.2811A>T (p.Gly937=) rs192375476 0.00101
NM_004998.4(MYO1E):c.554A>G (p.Asp185Gly) rs141565214 0.00101
NM_006279.5(ST3GAL3):c.118+10G>C rs147330005 0.00101
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893 0.00101
NM_014467.3(SRPX2):c.481C>A (p.Arg161=) rs150552508 0.00101
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579 0.00101
NM_020975.6(RET):c.1157C>T (p.Ala386Val) rs115272158 0.00101
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu) rs142857685 0.00101
NM_025219.3(DNAJC5):c.107+10C>T rs181906972 0.00101
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln) rs145886657 0.00101
NM_181332.3(NLGN4X):c.591C>T (p.Ile197=) rs149003627 0.00101
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn) rs142422990 0.00101
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933 0.00101
NM_182961.4(SYNE1):c.6484A>T (p.Ser2162Cys) rs144435836 0.00101
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362 0.00100
NM_001235.5(SERPINH1):c.580C>A (p.Arg194Ser) rs141721173 0.00100
NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala) rs150682764 0.00100
NM_001378120.1(MBD5):c.3754-9T>C rs370173652 0.00100
NM_001384140.1(PCDH15):c.2990A>G (p.Glu997Gly) rs139087859 0.00100
NM_001429.4(EP300):c.6969C>G (p.Pro2323=) rs111489369 0.00100
NM_002335.4(LRP5):c.3723A>G (p.Pro1241=) rs139554243 0.00100
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) rs148688181 0.00100
NM_014989.7(RIMS1):c.2699-8T>C rs149883454 0.00100
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=) rs34527521 0.00100
NM_022369.4(STRA6):c.357C>T (p.Pro119=) rs139775570 0.00100
NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys) rs34754243 0.00100
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610 0.00100
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=) rs144216539 0.00100
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343 0.00100
NM_182961.4(SYNE1):c.4031G>A (p.Arg1344Gln) rs144566713 0.00100
NM_000260.4(MYO7A):c.*8C>T rs370206645 0.00099
NM_000535.7(PMS2):c.353+9A>C rs139990791 0.00099
NM_001029883.3(PCARE):c.3114G>C (p.Val1038=) rs140790266 0.00099
NM_001077525.3(MTMR14):c.567G>A (p.Thr189=) rs9880613 0.00099
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_001323289.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225 0.00099
NM_001365536.1(SCN9A):c.3195C>T (p.Ser1065=) rs111674454 0.00099
NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met) rs142775128 0.00099
NM_001377.3(DYNC2H1):c.3500A>G (p.His1167Arg) rs185613200 0.00099
NM_001849.4(COL6A2):c.2751G>T (p.Val917=) rs111341650 0.00099
NM_002335.4(LRP5):c.2529C>T (p.Asp843=) rs143204891 0.00099
NM_003737.4(DCHS1):c.8264G>A (p.Arg2755His) rs141243126 0.00099
NM_004999.4(MYO6):c.3530G>A (p.Arg1177His) rs139664153 0.00099
NM_005216.5(DDOST):c.711C>T (p.Arg237=) rs34189097 0.00099
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904 0.00099
NM_024675.4(PALB2):c.2365C>T (p.Leu789=) rs145805054 0.00099
NM_025132.4(WDR19):c.2715G>A (p.Lys905=) rs200339331 0.00099
NM_138694.4(PKHD1):c.11002G>T (p.Asp3668Tyr) rs114237522 0.00099
NM_139125.4(MASP1):c.1125C>T (p.His375=) rs34207306 0.00099
NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=) rs112144165 0.00099
NM_173477.5(USH1G):c.566G>A (p.Arg189Gln) rs201644674 0.00099
NM_173495.3(PTCHD1):c.1311T>C (p.His437=) rs150186077 0.00099
NM_181882.3(PRX):c.3110A>G (p.Glu1037Gly) rs148600818 0.00099
NM_182914.3(SYNE2):c.11479G>C (p.Val3827Leu) rs138514054 0.00099
NM_182961.4(SYNE1):c.7156A>G (p.Ile2386Val) rs147947903 0.00099
NM_201599.3(ZMYM3):c.4065C>T (p.Arg1355=) rs142437272 0.00099
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp) rs148153079 0.00099
NM_000027.4(AGA):c.762C>T (p.Ala254=) rs145465919 0.00098
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085 0.00098
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311 0.00098
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg) rs184866544 0.00098
NM_000306.4(POU1F1):c.252C>T (p.His84=) rs4988460 0.00098
NM_000388.4(CASR):c.6A>C (p.Ala2=) rs112042188 0.00098
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053 0.00098
NM_000463.3(UGT1A1):c.326T>C (p.Val109Ala) rs144217005 0.00098
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=) rs200278701 0.00098
NM_001127649.3(PEX26):c.497G>A (p.Arg166Gln) rs34194489 0.00098
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=) rs142404822 0.00098
NM_001199397.3(NEK1):c.3213C>T (p.Asn1071=) rs184324310 0.00098
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=) rs72646842 0.00098
NM_001384910.1(GUCA1A):c.142C>T (p.Leu48=) rs35969994 0.00098
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147 0.00098
NM_001966.4(EHHADH):c.1864C>T (p.Arg622Cys) rs199916968 0.00098
NM_002334.4(LRP4):c.3064A>G (p.Asn1022Asp) rs61742871 0.00098
NM_003384.3(VRK1):c.175T>G (p.Ser59Ala) rs61736727 0.00098
NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly) rs146440397 0.00098
NM_003742.4(ABCB11):c.1281C>T (p.Phe427=) rs11568360 0.00098
NM_004006.3(DMD):c.2261G>T (p.Gly754Val) rs151242451 0.00098
NM_004560.4(ROR2):c.1670C>T (p.Ser557Leu) rs56099091 0.00098
NM_004998.4(MYO1E):c.3146C>A (p.Pro1049His) rs147579391 0.00098
NM_005045.4(RELN):c.5200C>G (p.Leu1734Val) rs362800 0.00098
NM_005045.4(RELN):c.6141C>T (p.Phe2047=) rs79161241 0.00098
NM_014780.5(CUL7):c.2115C>T (p.His705=) rs143128153 0.00098
NM_015404.4(WHRN):c.1943C>A (p.Ser648Tyr) rs142653982 0.00098
NM_020822.3(KCNT1):c.2142G>A (p.Leu714=) rs370580872 0.00098
NM_021625.5(TRPV4):c.854-4G>A rs371733585 0.00098
NM_025074.7(FRAS1):c.10539A>G (p.Thr3513=) rs199921300 0.00098
NM_173660.5(DOK7):c.331+9C>T rs370879328 0.00098
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln) rs145019640 0.00098
NM_206933.4(USH2A):c.15494C>G (p.Ala5165Gly) rs146892520 0.00098
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00097
NM_000209.4(PDX1):c.543C>T (p.Val181=) rs75498935 0.00097
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005 0.00097
NM_001128228.3(TPRN):c.655C>A (p.Arg219Ser) rs559890679 0.00097
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077 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.4671G>A (p.Met1557Ile) rs139192633 0.00097
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu) rs72646899 0.00097
NM_001318510.2(ACSL4):c.806+3A>G rs183171123 0.00097
NM_002335.4(LRP5):c.4195G>A (p.Val1399Ile) rs113315676 0.00097
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284 0.00097
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val) rs34656239 0.00097
NM_004565.3(PEX14):c.267C>G (p.Val89=) rs146359055 0.00097
NM_006907.4(PYCR1):c.334C>T (p.Arg112Trp) rs147653673 0.00097
NM_014244.5(ADAMTS2):c.1122C>T (p.Ser374=) rs145109914 0.00097
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile) rs150981983 0.00097
NM_015295.3(SMCHD1):c.5878+8T>G rs144115061 0.00097
NM_015909.4(NBAS):c.4228A>G (p.Thr1410Ala) rs143724414 0.00097
NM_025243.4(SLC19A3):c.1056C>G (p.Phe352Leu) rs149806390 0.00097
NM_080916.3(DGUOK):c.142+9C>T rs377000908 0.00097
NM_170682.4(P2RX2):c.491A>G (p.Gln164Arg) rs142844880 0.00097
NM_198859.4(PRICKLE2):c.2191A>G (p.Ser731Gly) rs148689951 0.00097
NM_201384.3(PLEC):c.1969A>T (p.Ser657Cys) rs199843296 0.00097
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_000038.6(APC):c.2262T>G (p.Val754=) rs148987776 0.00096
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_000372.5(TYR):c.665T>C (p.Ile222Thr) rs34878847 0.00096
NM_000466.3(PEX1):c.3371A>G (p.Asn1124Ser) rs147870525 0.00096
NM_000548.5(TSC2):c.262C>T (p.Leu88=) rs45485999 0.00096
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008 0.00096
NM_000751.3(CHRND):c.1400G>A (p.Arg467His) rs148939701 0.00096
NM_001038603.3(MARVELD2):c.900G>A (p.Leu300=) rs138680809 0.00096
NM_001083961.2(WDR62):c.2211-4G>A rs202109439 0.00096
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764 0.00096
NM_001170629.2(CHD8):c.341C>T (p.Thr114Met) rs111250264 0.00096
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=) rs146402942 0.00096
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410 0.00096
NM_001267550.2(TTN):c.107961T>C (p.His35987=) rs377439315 0.00096
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) rs73973139 0.00096
NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys) rs147207100 0.00096
NM_001267550.2(TTN):c.88721G>A (p.Arg29574His) rs111727915 0.00096
NM_001365536.1(SCN9A):c.2766C>T (p.Arg922=) rs199653503 0.00096
NM_001457.4(FLNB):c.808A>G (p.Met270Val) rs145036794 0.00096
NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser) rs139401633 0.00096
NM_001854.4(COL11A1):c.3231G>A (p.Pro1077=) rs147247206 0.00096
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=) rs139926138 0.00096
NM_002618.4(PEX13):c.229T>A (p.Ser77Thr) rs150161574 0.00096
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_004369.4(COL6A3):c.2292C>T (p.Asn764=) rs116066149 0.00096
NM_004369.4(COL6A3):c.7007C>T (p.Pro2336Leu) rs202092407 0.00096
NM_006445.4(PRPF8):c.5352C>T (p.Asn1784=) rs141456140 0.00096
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala) rs138481453 0.00096
NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr) rs113005049 0.00096
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp) rs141528309 0.00096
NM_031448.6(C19orf12):c.313G>A (p.Val105Met) rs146492790 0.00096
NM_033028.5(BBS4):c.1049A>G (p.Asn350Ser) rs150395094 0.00096
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033 0.00096
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=) rs150573530 0.00096
NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met) rs146492238 0.00096
NM_000142.5(FGFR3):c.2149G>A (p.Ala717Thr) rs17882190 0.00095
NM_000180.4(GUCY2D):c.1236C>T (p.Asp412=) rs61749678 0.00095
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe) rs139059149 0.00095
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117 0.00095
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu) rs56355310 0.00095
NM_001966.4(EHHADH):c.983C>T (p.Ser328Leu) rs144464757 0.00095
NM_002335.4(LRP5):c.263A>G (p.Lys88Arg) rs78219242 0.00095
NM_002435.3(MPI):c.1049C>T (p.Thr350Met) rs116933453 0.00095
NM_004369.4(COL6A3):c.4169C>T (p.Ser1390Leu) rs115548605 0.00095
NM_006017.3(PROM1):c.103G>C (p.Glu35Gln) rs200290535 0.00095
NM_006017.3(PROM1):c.134A>G (p.Asp45Gly) rs201559220 0.00095
NM_006019.4(TCIRG1):c.1209G>A (p.Met403Ile) rs140191063 0.00095
NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val) rs56321129 0.00095
NM_018136.5(ASPM):c.5452C>T (p.Arg1818Cys) rs41299625 0.00095
NM_018965.4(TREM2):c.399G>T (p.Leu133=) rs144250872 0.00095
NM_020754.4(ARHGAP31):c.2364A>T (p.Pro788=) rs61746581 0.00095
NM_020779.4(WDR35):c.770T>C (p.Val257Ala) rs142955097 0.00095
NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=) rs142126065 0.00095
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861 0.00095
NM_207361.6(FREM2):c.2367G>A (p.Pro789=) rs140101984 0.00095
NM_000138.5(FBN1):c.6837G>A (p.Gly2279=) rs140584234 0.00094
NM_000452.3(SLC10A2):c.1038C>T (p.Asp346=) rs147498129 0.00094
NM_001008388.5(CISD2):c.12G>A (p.Glu4=) rs145312923 0.00094
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu) rs147950418 0.00094
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=) rs372997298 0.00094
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243 0.00094
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) rs55892928 0.00094
NM_001354604.2(MITF):c.1280T>C (p.Val427Ala) rs2055006 0.00094
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_004836.7(EIF2AK3):c.112G>A (p.Ala38Thr) rs886042833 0.00094
NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys) rs34081806 0.00094
NM_012469.4(PRPF6):c.1797G>A (p.Arg599=) rs145483312 0.00094
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921 0.00094
NM_016616.5(NME8):c.610A>G (p.Ile204Val) rs146777129 0.00094
NM_018668.5(VPS33B):c.1274G>A (p.Ser425Asn) rs139709507 0.00094
NM_020812.4(DOCK6):c.2594G>A (p.Arg865His) rs199922090 0.00094
NM_022437.3(ABCG8):c.1941C>G (p.Val647=) rs147991100 0.00094
NM_054012.4(ASS1):c.1134C>T (p.Asn378=) rs140715869 0.00094
NM_133261.3(GIPC3):c.906C>T (p.Ala302=) rs140960269 0.00094
NM_153603.4(COG7):c.850A>T (p.Ile284Phe) rs115605801 0.00094
NM_198525.3(KIF7):c.3960T>A (p.Pro1320=) rs141028210 0.00094
NM_201525.4(ADGRG1):c.243C>T (p.Phe81=) rs58068378 0.00094
NM_000016.6(ACADM):c.994C>T (p.Leu332=) rs138098371 0.00093
NM_000193.4(SHH):c.876G>A (p.Gly292=) rs112055654 0.00093
NM_000287.4(PEX6):c.1677C>A (p.Asp559Glu) rs61732159 0.00093
NM_000352.6(ABCC8):c.1874C>T (p.Ala625Val) rs148709148 0.00093
NM_000426.4(LAMA2):c.6649G>A (p.Val2217Ile) rs147857398 0.00093
NM_000466.3(PEX1):c.2926+8T>C rs369877998 0.00093
NM_000631.5(NCF4):c.478G>A (p.Val160Met) rs150103256 0.00093
NM_000719.7(CACNA1C):c.3049-10C>T rs186741807 0.00093
NM_001012720.2(RGR):c.318T>C (p.Ser106=) rs143761967 0.00093
NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val) rs201337011 0.00093
NM_001165967.2(HES7):c.420G>A (p.Pro140=) rs200833034 0.00093
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034 0.00093
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile) rs183245562 0.00093
NM_001267550.2(TTN):c.65776G>A (p.Val21926Met) rs145527033 0.00093
NM_001267550.2(TTN):c.80661C>T (p.Asn26887=) rs201069672 0.00093
NM_001267550.2(TTN):c.88485C>T (p.Leu29495=) rs371612136 0.00093
NM_001292063.2(OTOG):c.2868-3C>T rs565665118 0.00093
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr) rs143999854 0.00093
NM_001360016.2(G6PD):c.1458-13C>G rs371772243 0.00093
NM_001369268.1(ACAN):c.7092G>A (p.Lys2364=) rs368979713 0.00093
NM_001377.3(DYNC2H1):c.12643A>C (p.Ile4215Leu) rs142920070 0.00093
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp) rs143502850 0.00093
NM_001927.4(DES):c.935A>C (p.Asp312Ala) rs148947510 0.00093
NM_002968.3(SALL1):c.411C>T (p.Ser137=) rs151051011 0.00093
NM_005529.7(HSPG2):c.10512C>T (p.His3504=) rs55875654 0.00093
NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn) rs144875383 0.00093
NM_012193.4(FZD4):c.1194T>C (p.Tyr398=) rs147766472 0.00093
NM_012470.4(TNPO3):c.2280T>C (p.Ile760=) rs142359170 0.00093
NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys) rs78215018 0.00093
NM_020066.5(FMN2):c.893G>A (p.Gly298Asp) rs556876873 0.00093
NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser) rs151047156 0.00093
NM_020812.4(DOCK6):c.5582G>A (p.Arg1861His) rs115035890 0.00093
NM_020822.3(KCNT1):c.985C>T (p.Leu329=) rs147165522 0.00093
NM_021625.5(TRPV4):c.1284G>A (p.Gly428=) rs150773110 0.00093
NM_022437.3(ABCG8):c.1093A>G (p.Thr365Ala) rs114404835 0.00093
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser) rs146789444 0.00093
NM_145239.3(PRRT2):c.640G>C (p.Ala214Pro) rs745594874 0.00093
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930 0.00093
NM_194248.3(OTOF):c.1530C>T (p.Ile510=) rs150452778 0.00093
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys) rs139954767 0.00093
NM_198576.4(AGRN):c.2013C>T (p.Ser671=) rs141603403 0.00093
NM_201384.3(PLEC):c.6594C>T (p.Thr2198=) rs144242254 0.00093
NM_201548.5(CERKL):c.735G>C (p.Leu245=) rs140898616 0.00093
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686 0.00092
NM_000093.5(COL5A1):c.4906G>A (p.Ala1636Thr) rs113452150 0.00092
NM_000137.4(FAH):c.1205G>A (p.Arg402His) rs147796599 0.00092
NM_000208.4(INSR):c.190T>C (p.Leu64=) rs144836032 0.00092
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139 0.00092
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=) rs146932786 0.00092
NM_001267550.2(TTN):c.11672C>T (p.Thr3891Ile) rs148164929 0.00092
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys) rs72648939 0.00092
NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys) rs59148238 0.00092
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=) rs147318592 0.00092
NM_001379081.2(FREM1):c.3147C>T (p.Ser1049=) rs200894045 0.00092
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_003673.4(TCAP):c.353C>T (p.Ala118Val) rs143233087 0.00092
NM_003742.4(ABCB11):c.408C>T (p.Ser136=) rs183214630 0.00092
NM_004560.4(ROR2):c.1736A>T (p.Asp579Val) rs150610444 0.00092
NM_004994.3(MMP9):c.1896C>T (p.Leu632=) rs202160464 0.00092
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) rs200663107 0.00092
NM_006929.5(SKIC2):c.3470C>T (p.Thr1157Met) rs201764098 0.00092
NM_012469.4(PRPF6):c.891C>T (p.Leu297=) rs41278234 0.00092
NM_014251.3(SLC25A13):c.1311+3A>G rs180844972 0.00092
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476 0.00092
NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg) rs148134252 0.00092
NM_022124.6(CDH23):c.4488+7C>T rs374215303 0.00092
NM_022356.4(P3H1):c.1529A>G (p.Asn510Ser) rs149894086 0.00092
NM_022437.3(ABCG8):c.1656G>A (p.Leu552=) rs145341486 0.00092
NM_024757.5(EHMT1):c.737G>A (p.Arg246Gln) rs144871446 0.00092
NM_032119.4(ADGRV1):c.8172C>T (p.Phe2724=) rs371019516 0.00092
NM_057176.3(BSND):c.527G>A (p.Arg176His) rs143711308 0.00092
NM_133642.5(LARGE1):c.1071T>C (p.Asn357=) rs146552975 0.00092
NM_000138.5(FBN1):c.783T>C (p.Asn261=) rs113721547 0.00091
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_000392.5(ABCC2):c.258A>G (p.Val86=) rs142443276 0.00091
NM_000426.4(LAMA2):c.1782+10C>T rs200030296 0.00091
NM_000426.4(LAMA2):c.9211+6T>C rs201375881 0.00091
NM_000553.6(WRN):c.107G>A (p.Arg36Gln) rs34084741 0.00091
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) rs200092211 0.00091
NM_001061.7(TBXAS1):c.1159G>A (p.Glu387Lys) rs3735354 0.00091
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242 0.00091
NM_001267550.2(TTN):c.107766T>C (p.Gly35922=) rs147293964 0.00091
NM_001267550.2(TTN):c.58419A>G (p.Gln19473=) rs186563991 0.00091
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu) rs72646845 0.00091
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys) rs149763294 0.00091
NM_001291303.3(FAT4):c.7231A>T (p.Thr2411Ser) rs147297895 0.00091
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_001849.4(COL6A2):c.288C>T (p.Tyr96=) rs61735833 0.00091
NM_001966.4(EHHADH):c.450C>T (p.Asp150=) rs116162834 0.00091
NM_003036.4(SKI):c.1851G>A (p.Glu617=) rs146789646 0.00091
NM_004393.6(DAG1):c.2082C>T (p.Asn694=) rs146453412 0.00091
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_005045.4(RELN):c.1001G>A (p.Arg334His) rs146922726 0.00091
NM_005045.4(RELN):c.577+7G>T rs188372756 0.00091
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala) rs3027884 0.00091
NM_017534.6(MYH2):c.3432C>T (p.Asp1144=) rs184725551 0.00091
NM_019066.5(MAGEL2):c.639A>C (p.Pro213=) rs886042708 0.00091
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly) rs188098974 0.00091
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=) rs61754107 0.00091
NM_170707.4(LMNA):c.640-52C>T rs41314033 0.00091
NM_182914.3(SYNE2):c.16718G>A (p.Arg5573Gln) rs149227847 0.00091
NM_182914.3(SYNE2):c.20161G>A (p.Ala6721Thr) rs140897155 0.00091
NM_182914.3(SYNE2):c.7124T>C (p.Leu2375Pro) rs111902869 0.00091
NM_182961.4(SYNE1):c.6826-6A>G rs183683592 0.00091
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=) rs111033366 0.00091
NM_201384.3(PLEC):c.10656G>A (p.Val3552=) rs368312695 0.00091
NM_000026.4(ADSL):c.895A>G (p.Met299Val) rs34396910 0.00090
NM_000082.4(ERCC8):c.66G>A (p.Glu22=) rs149130938 0.00090
NM_000124.4(ERCC6):c.2124C>T (p.Ser708=) rs114832108 0.00090
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548 0.00090
NM_000489.6(ATRX):c.5787-20G>T rs185359850 0.00090
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=) rs55938627 0.00090
NM_001267550.2(TTN):c.96098G>A (p.Arg32033His) rs200648462 0.00090
NM_001374385.1(ATP8B1):c.1711G>A (p.Ala571Thr) rs35140429 0.00090
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199 0.00090
NM_001458.5(FLNC):c.5418G>A (p.Ser1806=) rs376078394 0.00090
NM_001793.6(CDH3):c.345T>C (p.Ser115=) rs138829996 0.00090
NM_001844.5(COL2A1):c.2831C>T (p.Pro944Leu) rs140368756 0.00090
NM_003322.6(TULP1):c.366G>T (p.Glu122Asp) rs113772629 0.00090
NM_003630.3(PEX3):c.165A>G (p.Gln55=) rs41285015 0.00090
NM_006005.3(WFS1):c.683G>A (p.Arg228His) rs150771247 0.00090
NM_006662.3(SRCAP):c.1559G>A (p.Ser520Asn) rs139339184 0.00090
NM_022095.4(ZNF335):c.2280G>A (p.Gln760=) rs148186790 0.00090
NM_147127.5(EVC2):c.2244C>T (p.Thr748=) rs146588335 0.00090
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser) rs200631556 0.00090
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563 0.00089
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala) rs61749454 0.00089
NM_000553.6(WRN):c.2500C>T (p.Arg834Cys) rs3087425 0.00089
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser) rs142063328 0.00089
NM_001174150.2(ARL13B):c.831C>A (p.Asn277Lys) rs139997243 0.00089
NM_001235.5(SERPINH1):c.92G>C (p.Gly31Ala) rs140588417 0.00089
NM_001267550.2(TTN):c.15906C>T (p.Val5302=) rs375179152 0.00089
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601 0.00089
NM_001378615.1(CC2D2A):c.1162G>A (p.Val388Ile) rs115924432 0.00089
NM_001395413.1(POR):c.678C>T (p.Ala226=) rs72557906 0.00089
NM_001844.5(COL2A1):c.2095-4G>A rs111570218 0.00089
NM_003119.4(SPG7):c.1083G>A (p.Ala361=) rs114135540 0.00089
NM_004329.3(BMPR1A):c.1395G>C (p.Pro465=) rs55845713 0.00089
NM_005068.3(SIM1):c.1082C>T (p.Thr361Ile) rs145479047 0.00089
NM_006907.4(PYCR1):c.465C>T (p.Ser155=) rs149683289 0.00089
NM_014319.5(LEMD3):c.1746C>T (p.Ile582=) rs140496862 0.00089
NM_014874.4(MFN2):c.1641C>T (p.Leu547=) rs140924661 0.00089
NM_016239.4(MYO15A):c.9181G>A (p.Glu3061Lys) rs116833707 0.00089
NM_018249.6(CDK5RAP2):c.1218G>A (p.Gln406=) rs61758368 0.00089
NM_019098.5(CNGB3):c.2007A>G (p.Lys669=) rs147991883 0.00089
NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln) rs142890313 0.00089
NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys) rs3746366 0.00089
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=) rs149260051 0.00089
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=) rs148240825 0.00089
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His) rs36215251 0.00089
NM_201384.3(PLEC):c.3731T>G (p.Val1244Gly) rs187648086 0.00089
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_207352.4(CYP4V2):c.1446G>A (p.Ser482=) rs141950964 0.00089
NM_000260.4(MYO7A):c.39C>A (p.Asp13Glu) rs199989979 0.00088
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687 0.00088
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=) rs372702466 0.00088
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=) rs144813907 0.00088
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=) rs140553130 0.00088
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile) rs140469160 0.00088
NM_001164508.2(NEB):c.10434T>C (p.Asn3478=) rs375543045 0.00088
NM_001170629.2(CHD8):c.7036G>A (p.Glu2346Lys) rs200465274 0.00088
NM_001256789.3(CACNA1F):c.5577C>T (p.Gly1859=) rs141521080 0.00088
NM_001267550.2(TTN):c.18531G>C (p.Val6177=) rs370684491 0.00088
NM_001267550.2(TTN):c.31807G>A (p.Val10603Ile) rs139790668 0.00088
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu) rs146400809 0.00088
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr) rs184643087 0.00088
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_001369268.1(ACAN):c.7189G>A (p.Val2397Ile) rs150555123 0.00088
NM_001374353.1(GLI2):c.2939C>G (p.Pro980Arg) rs563818052 0.00088
NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr) rs147044066 0.00088
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=) rs35079638 0.00088
NM_001379180.1(ESRRB):c.*1546C>T rs201448899 0.00088
NM_001853.4(COL9A3):c.110C>T (p.Pro37Leu) rs373605761 0.00088
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu) rs183130583 0.00088
NM_002025.4(AFF2):c.496C>T (p.Pro166Ser) rs150996735 0.00088
NM_002880.4(RAF1):c.1830A>G (p.Gln610=) rs141791080 0.00088
NM_003839.4(TNFRSF11A):c.1254T>G (p.Ser418=) rs34966542 0.00088
NM_004530.6(MMP2):c.1233G>A (p.Leu411=) rs140172728 0.00088
NM_005413.4(SIX3):c.369G>A (p.Glu123=) rs200331042 0.00088
NM_005802.5(TOPORS):c.2547A>G (p.Ser849=) rs150650712 0.00088
NM_006019.4(TCIRG1):c.197-5C>T rs183885218 0.00088
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg) rs149623054 0.00088
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) rs150508296 0.00088
NM_014989.7(RIMS1):c.1764A>G (p.Gln588=) rs192179523 0.00088
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=) rs369983077 0.00088
NM_020822.3(KCNT1):c.3157-8C>T rs371874401 0.00088
NM_022455.5(NSD1):c.3150C>T (p.Thr1050=) rs144257298 0.00088
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041 0.00088
NM_031471.6(FERMT3):c.1188G>A (p.Gln396=) rs148021416 0.00088
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val) rs41308297 0.00088
NM_033337.3(CAV3):c.40G>A (p.Val14Ile) rs121909281 0.00088
NM_138694.4(PKHD1):c.3834C>T (p.Phe1278=) rs145960781 0.00088
NM_000023.4(SGCA):c.329G>A (p.Arg110Gln) rs145697858 0.00087
NM_000124.4(ERCC6):c.2479C>T (p.Leu827=) rs115875661 0.00087
NM_000151.4(G6PC1):c.562+10G>A rs199505156 0.00087
NM_000208.4(INSR):c.959C>T (p.Thr320Met) rs138528064 0.00087
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_001083614.2(EARS2):c.670G>A (p.Gly224Ser) rs141129877 0.00087
NM_001127644.2(GABRA1):c.27C>A (p.Asp9Glu) rs113886269 0.00087
NM_001128225.3(SLC39A13):c.646-7T>C rs140597965 0.00087
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769 0.00087
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991 0.00087
NM_001267550.2(TTN):c.95205C>T (p.Asp31735=) rs373182578 0.00087
NM_001292063.2(OTOG):c.4835G>A (p.Arg1612His) rs189248390 0.00087
NM_001377.3(DYNC2H1):c.11905G>A (p.Val3969Ile) rs189100009 0.00087
NM_001379081.2(FREM1):c.5622G>C (p.Trp1874Cys) rs61745612 0.00087
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487 0.00087
NM_001614.5(ACTG1):c.39C>T (p.Gly13=) rs146865914 0.00087
NM_001849.4(COL6A2):c.568G>A (p.Val190Met) rs150877061 0.00087
NM_002206.3(ITGA7):c.791-7C>T rs144699549 0.00087
NM_003896.4(ST3GAL5):c.-15C>T rs527286367 0.00087
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) rs147399860 0.00087
NM_014425.5(INVS):c.1945G>A (p.Val649Met) rs115042730 0.00087
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val) rs112005830 0.00087
NM_015102.5(NPHP4):c.2940G>A (p.Thr980=) rs146948888 0.00087
NM_016239.4(MYO15A):c.2418C>T (p.Phe806=) rs564053026 0.00087
NM_016239.4(MYO15A):c.5060C>T (p.Pro1687Leu) rs58625281 0.00087
NM_020822.3(KCNT1):c.2994G>A (p.Leu998=) rs143198263 0.00087
NM_023036.6(DNAI2):c.754G>A (p.Val252Met) rs140326154 0.00087
NM_178857.6(RP1L1):c.652G>T (p.Val218Leu) rs77679870 0.00087
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys) rs35885472 0.00086
NM_000071.3(CBS):c.52C>T (p.Arg18Cys) rs201827340 0.00086
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00086
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val) rs150288967 0.00086
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894 0.00086
NM_000426.4(LAMA2):c.6697G>A (p.Val2233Ile) rs150945378 0.00086
NM_000492.4(CFTR):c.4243-20A>G rs138025486 0.00086
NM_000548.5(TSC2):c.2784C>T (p.Pro928=) rs45517267 0.00086
NM_000875.5(IGF1R):c.1956T>G (p.Pro652=) rs45598332 0.00086
NM_001003722.2(GLE1):c.823G>A (p.Asp275Asn) rs146800850 0.00086
NM_001256789.3(CACNA1F):c.2764G>A (p.Gly922Ser) rs149685267 0.00086
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met) rs201437752 0.00086
NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr) rs201836227 0.00086
NM_001267550.2(TTN):c.81123G>A (p.Thr27041=) rs181299250 0.00086
NM_001267550.2(TTN):c.95244C>T (p.Arg31748=) rs368243641 0.00086
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934 0.00086
NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys) rs201905890 0.00086
NM_001844.5(COL2A1):c.507C>T (p.Pro169=) rs143851987 0.00086
NM_001849.4(COL6A2):c.2796G>A (p.Pro932=) rs373274913 0.00086
NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser) rs151234321 0.00086
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys) rs148104494 0.00086
NM_003742.4(ABCB11):c.2985G>A (p.Ala995=) rs113923887 0.00086
NM_003742.4(ABCB11):c.3435A>G (p.Lys1145=) rs11568366 0.00086
NM_004560.4(ROR2):c.2461G>A (p.Val821Ile) rs149056068 0.00086
NM_004836.7(EIF2AK3):c.3153C>T (p.Tyr1051=) rs56120877 0.00086
NM_006208.3(ENPP1):c.2624C>T (p.Ser875Phe) rs140729669 0.00086
NM_006514.4(SCN10A):c.3859G>A (p.Val1287Ile) rs145032037 0.00086
NM_012210.4(TRIM32):c.6T>G (p.Ala2=) rs141352486 0.00086
NM_014141.6(CNTNAP2):c.2369G>A (p.Arg790His) rs73464271 0.00086
NM_017777.4(MKS1):c.27C>T (p.Asp9=) rs369488349 0.00086
NM_021101.5(CLDN1):c.195A>G (p.Lys65=) rs145197251 0.00086
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe) rs115722008 0.00086
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu) rs104894680 0.00086
NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala) rs148634904 0.00086
NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu) rs199861426 0.00086
NM_032119.4(ADGRV1):c.16285G>A (p.Glu5429Lys) rs183851734 0.00086
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys) rs188772875 0.00086
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=) rs371831553 0.00086
NM_178335.3(CCDC50):c.617C>T (p.Ser206Phe) rs138153104 0.00086
NM_182914.3(SYNE2):c.13850C>T (p.Thr4617Ile) rs148582250 0.00086
NM_182914.3(SYNE2):c.15248A>G (p.Asp5083Gly) rs149617373 0.00086
NM_182961.4(SYNE1):c.9530A>G (p.Asp3177Gly) rs149005052 0.00086
NM_201384.3(PLEC):c.2775C>T (p.Ala925=) rs201202488 0.00086
NM_201384.3(PLEC):c.3620G>T (p.Arg1207Leu) rs146685404 0.00086
NM_000193.4(SHH):c.1181G>A (p.Arg394His) rs551809680 0.00085
NM_000208.4(INSR):c.2970G>A (p.Pro990=) rs41304772 0.00085
NM_000238.4(KCNH2):c.1528C>T (p.Leu510=) rs75648145 0.00085
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444 0.00085
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463 0.00085
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=) rs143782439 0.00085
NM_001048166.1(STIL):c.2906A>G (p.His969Arg) rs148193936 0.00085
NM_001367624.2(ZNF469):c.946G>A (p.Glu316Lys) rs368772806 0.00085
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr) rs140736502 0.00085
NM_001853.4(COL9A3):c.1242C>T (p.Pro414=) rs150153886 0.00085
NM_003482.4(KMT2D):c.7478G>A (p.Gly2493Glu) rs833819 0.00085
NM_003742.4(ABCB11):c.174C>T (p.Asp58=) rs11568362 0.00085
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00085
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647 0.00085
NM_017534.6(MYH2):c.2106C>T (p.Asn702=) rs145039915 0.00085
NM_020066.5(FMN2):c.2572C>A (p.Pro858Thr) rs140315493 0.00085
NM_020451.3(SELENON):c.1596C>T (p.Gly532=) rs149623434 0.00085
NM_024408.4(NOTCH2):c.4897G>A (p.Val1633Ile) rs116321057 0.00085
NM_032119.4(ADGRV1):c.9083A>G (p.Asn3028Ser) rs150549897 0.00085
NM_058246.4(DNAJB6):c.429G>C (p.Ala143=) rs150709673 0.00085
NM_152415.3(VPS37A):c.-19G>A rs59276128 0.00085
NM_153240.5(NPHP3):c.105G>A (p.Lys35=) rs377060857 0.00085
NM_201384.3(PLEC):c.4860C>T (p.Ala1620=) rs144880376 0.00085
NM_206933.4(USH2A):c.8559-7G>A rs199618999 0.00085
NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys) rs61760166 0.00084
NM_000293.3(PHKB):c.2075A>G (p.Lys692Arg) rs142381554 0.00084
NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys) rs142244640 0.00084
NM_000548.5(TSC2):c.1860G>A (p.Leu620=) rs45492397 0.00084
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415 0.00084
NM_001031679.3(MSRB3):c.76+7G>T rs199896714 0.00084
NM_001079802.2(FKTN):c.681G>A (p.Leu227=) rs142604625 0.00084
NM_001083961.2(WDR62):c.2381C>G (p.Pro794Arg) rs149431376 0.00084
NM_001148.6(ANK2):c.11538C>T (p.Leu3846=) rs45602336 0.00084
NM_001165963.4(SCN1A):c.3101T>C (p.Ile1034Thr) rs121918818 0.00084
NM_001193315.2(VIPAS39):c.1460C>T (p.Ser487Leu) rs140365206 0.00084
NM_001193315.2(VIPAS39):c.972C>T (p.Arg324=) rs147303718 0.00084
NM_001200.4(BMP2):c.561C>T (p.Pro187=) rs149465465 0.00084
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) rs56173891 0.00084
NM_001367721.1(CASK):c.1077G>A (p.Ala359=) rs145641295 0.00084
NM_001379286.1(ZNF423):c.819C>T (p.Cys273=) rs201499268 0.00084
NM_005045.4(RELN):c.7111G>A (p.Ala2371Thr) rs79377093 0.00084
NM_005477.3(HCN4):c.3010C>T (p.Pro1004Ser) rs201418838 0.00084
NM_005633.4(SOS1):c.2238T>C (p.Asn746=) rs75877625 0.00084
NM_014324.6(AMACR):c.554T>C (p.Val185Ala) rs145786819 0.00084
NM_014363.6(SACS):c.1917A>G (p.Ala639=) rs138457742 0.00084
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=) rs146673563 0.00084
NM_017433.5(MYO3A):c.2214T>C (p.Asn738=) rs34803755 0.00084
NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val) rs372615343 0.00084
NM_022726.4(ELOVL4):c.931G>A (p.Ala311Thr) rs189898207 0.00084
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=) rs17752991 0.00084
NM_198578.4(LRRK2):c.347+2T>C rs141221000 0.00084
NM_201384.3(PLEC):c.5471C>T (p.Ala1824Val) rs542642242 0.00084
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser) rs140080678 0.00084
NM_207361.6(FREM2):c.1580C>T (p.Ser527Leu) rs139804851 0.00084
NM_000071.3(CBS):c.1257G>A (p.Leu419=) rs138432416 0.00083
NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met) rs56240927 0.00083
NM_000238.4(KCNH2):c.51C>G (p.Thr17=) rs144338227 0.00083
NM_000404.4(GLB1):c.1426C>T (p.Leu476=) rs113534264 0.00083
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_000548.5(TSC2):c.2979G>A (p.Thr993=) rs45517277 0.00083
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207 0.00083
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys) rs149897566 0.00083
NM_001077525.3(MTMR14):c.480C>T (p.Asn160=) rs375826804 0.00083
NM_001145809.2(MYH14):c.615G>A (p.Thr205=) rs199921330 0.00083
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile) rs201432372 0.00083
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989 0.00083
NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln) rs200459347 0.00083
NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys) rs200445568 0.00083
NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly) rs371719028 0.00083
NM_001298.3(CNGA3):c.284C>T (p.Pro95Leu) rs114108462 0.00083
NM_001330078.2(NRXN1):c.2772C>T (p.Tyr924=) rs200182626 0.00083
NM_001384474.1(LOXHD1):c.3941C>T (p.Thr1314Ile) rs182125538 0.00083
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys) rs150098077 0.00083
NM_001927.4(DES):c.785A>T (p.Glu262Val) rs147327878 0.00083
NM_001966.4(EHHADH):c.1804C>T (p.Arg602Trp) rs148208284 0.00083
NM_001966.4(EHHADH):c.2094A>G (p.Leu698=) rs370130327 0.00083
NM_002181.4(IHH):c.858G>A (p.Pro286=) rs146055831 0.00083
NM_002206.3(ITGA7):c.1606C>T (p.Leu536Phe) rs149028067 0.00083
NM_002691.4(POLD1):c.612C>T (p.His204=) rs147881471 0.00083
NM_002878.4(RAD51D):c.919G>A (p.Glu307Lys) rs115031549 0.00083
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048 0.00083
NM_004086.3(COCH):c.1348A>G (p.Ile450Val) rs139503327 0.00083
NM_004565.3(PEX14):c.602A>G (p.Asn201Ser) rs142285791 0.00083
NM_004586.3(RPS6KA3):c.244-5T>C rs192189478 0.00083
NM_005477.3(HCN4):c.1653C>A (p.Ile551=) rs141966309 0.00083
NM_005529.7(HSPG2):c.8941G>A (p.Val2981Ile) rs2229490 0.00083
NM_006005.3(WFS1):c.2195G>A (p.Arg732His) rs149013740 0.00083
NM_006086.4(TUBB3):c.921C>T (p.His307=) rs147283850 0.00083
NM_006486.3(FBLN1):c.1662C>T (p.Phe554=) rs138534271 0.00083
NM_014249.4(NR2E3):c.900G>A (p.Thr300=) rs184906734 0.00083
NM_014874.4(MFN2):c.1452G>A (p.Thr484=) rs150043585 0.00083
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638 0.00083
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_019066.5(MAGEL2):c.2281G>C (p.Ala761Pro) rs146970674 0.00083
NM_019066.5(MAGEL2):c.3690G>C (p.Glu1230Asp) rs34875116 0.00083
NM_021939.4(FKBP10):c.174A>G (p.Glu58=) rs150052125 0.00083
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile) rs202110635 0.00083
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val) rs202064612 0.00083
NM_032119.4(ADGRV1):c.9447+6G>A rs201481219 0.00083
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile) rs138728350 0.00083
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) rs150367317 0.00083
NM_175875.5(SIX5):c.549G>A (p.Val183=) rs143904307 0.00083
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00083
NM_205850.3(SLC24A5):c.347C>G (p.Ala116Gly) rs150379789 0.00083
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049 0.00082
NM_000092.5(COL4A4):c.195T>C (p.Gly65=) rs201278620 0.00082
NM_000124.4(ERCC6):c.3719G>T (p.Ser1240Ile) rs142219494 0.00082
NM_000228.3(LAMB3):c.1188C>T (p.Thr396=) rs115883756 0.00082
NM_000326.5(RLBP1):c.303C>T (p.Arg101=) rs144254383 0.00082
NM_000426.4(LAMA2):c.7440-9G>A rs369558532 0.00082
NM_000452.3(SLC10A2):c.425C>T (p.Pro142Leu) rs117447044 0.00082
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=) rs45486193 0.00082
NM_000744.7(CHRNA4):c.1053C>T (p.Ile351=) rs61737042 0.00082
NM_001029883.3(PCARE):c.667C>G (p.Leu223Val) rs372323929 0.00082
NM_001037.5(SCN1B):c.351C>T (p.Gly117=) rs3746255 0.00082
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=) rs72647541 0.00082
NM_001039141.3(TRIOBP):c.3309C>T (p.His1103=) rs199594270 0.00082
NM_001123385.2(BCOR):c.2514C>A (p.Pro838=) rs147497014 0.00082
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser) rs138654170 0.00082
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) rs145690047 0.00082
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn) rs72648973 0.00082
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile) rs72649002 0.00082
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln) rs72648238 0.00082
NM_001384910.1(GUCA1A):c.152C>T (p.Ser51Leu) rs137931613 0.00082
NM_003073.5(SMARCB1):c.267C>T (p.Thr89=) rs141275968 0.00082
NM_004369.4(COL6A3):c.8636C>T (p.Thr2879Met) rs150907698 0.00082
NM_004484.4(GPC3):c.826G>A (p.Gly276Ser) rs141100113 0.00082
NM_005633.4(SOS1):c.73C>T (p.Pro25Ser) rs139592595 0.00082
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278 0.00082
NM_173630.4(RTTN):c.2536G>A (p.Val846Ile) rs113536228 0.00082
NM_182914.3(SYNE2):c.12673C>T (p.Pro4225Ser) rs149296737 0.00082
NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=) rs139078338 0.00082
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly) rs138407813 0.00082
NM_201384.3(PLEC):c.10566G>A (p.Thr3522=) rs200741156 0.00082
NM_207361.6(FREM2):c.8100T>G (p.Leu2700=) rs141834289 0.00082
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000095.3(COMP):c.1488C>A (p.Asp496Glu) rs143714206 0.00081
NM_000126.4(ETFA):c.6C>T (p.Phe2=) rs749929239 0.00081
NM_000142.5(FGFR3):c.1923C>T (p.Asp641=) rs148104605 0.00081
NM_000159.4(GCDH):c.471C>T (p.Ser157=) rs146682905 0.00081
NM_000214.3(JAG1):c.439+10G>A rs201371037 0.00081
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=) rs35860166 0.00081
NM_000410.4(HFE):c.829G>A (p.Glu277Lys) rs140080192 0.00081
NM_000883.4(IMPDH1):c.336C>T (p.Ala112=) rs547740249 0.00081
NM_001032221.6(STXBP1):c.1702+10C>T rs147607230 0.00081
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012 0.00081
NM_001130987.2(DYSF):c.3756+9G>T rs191746041 0.00081
NM_001193315.2(VIPAS39):c.598-6C>G rs141155709 0.00081
NM_001267550.2(TTN):c.13976A>G (p.Tyr4659Cys) rs34706803 0.00081
NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr) rs202108224 0.00081
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=) rs193022702 0.00081
NM_001292063.2(OTOG):c.2657C>T (p.Thr886Met) rs113688475 0.00081
NM_001365536.1(SCN9A):c.3403C>T (p.Pro1135Ser) rs184563685 0.00081
NM_001367721.1(CASK):c.2317+9T>C rs5964007 0.00081
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile) rs150887098 0.00081
NM_001377299.1(NDUFS2):c.959T>C (p.Val320Ala) rs144937332 0.00081
NM_001378477.3(NYX):c.567C>A (p.Ile189=) rs746383908 0.00081
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164 0.00081
NM_001848.3(COL6A1):c.2642C>T (p.Thr881Met) rs150432347 0.00081
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090 0.00081
NM_002546.4(TNFRSF11B):c.234C>T (p.Asp78=) rs144654126 0.00081
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_004447.6(EPS8):c.1330T>C (p.Phe444Leu) rs139258361 0.00081
NM_004530.6(MMP2):c.496G>A (p.Glu166Lys) rs147947052 0.00081
NM_004568.6(SERPINB6):c.100A>G (p.Met34Val) rs145538358 0.00081
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011 0.00081
NM_005676.5(RBM10):c.1104A>G (p.Pro368=) rs149109733 0.00081
NM_006662.3(SRCAP):c.3868A>G (p.Ser1290Gly) rs150246733 0.00081
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_007325.5(GRIA3):c.397G>A (p.Ala133Thr) rs151086692 0.00081
NM_012301.4(MAGI2):c.2454C>T (p.Arg818=) rs148580718 0.00081
NM_015102.5(NPHP4):c.1867A>G (p.Thr623Ala) rs35959882 0.00081
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala) rs145758265 0.00081
NM_032578.4(MYPN):c.1293C>A (p.Ile431=) rs147184158 0.00081
NM_170699.3(GPBAR1):c.189C>T (p.Leu63=) rs111925653 0.00081
NM_173630.4(RTTN):c.1221A>G (p.Glu407=) rs112327299 0.00081
NM_182961.4(SYNE1):c.10800G>A (p.Leu3600=) rs114858512 0.00081
NM_182961.4(SYNE1):c.11196T>C (p.Ala3732=) rs138528119 0.00081
NM_198428.3(BBS9):c.2105C>A (p.Thr702Asn) rs149362446 0.00081
NM_198506.5(LRIT3):c.379G>T (p.Asp127Tyr) rs148810231 0.00081
NM_201384.3(PLEC):c.6311C>T (p.Ala2104Val) rs201959200 0.00081
NM_201384.3(PLEC):c.8331C>T (p.Tyr2777=) rs141673192 0.00081
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972 0.00080
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His) rs200509072 0.00080
NM_000426.4(LAMA2):c.8282T>C (p.Ile2761Thr) rs115650537 0.00080
NM_000452.3(SLC10A2):c.194C>T (p.Pro65Leu) rs112657170 0.00080
NM_000744.7(CHRNA4):c.1108C>T (p.Arg370Trp) rs76378652 0.00080
NM_001110792.2(MECP2):c.*9G>A rs144008995 0.00080
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_001130987.2(DYSF):c.4694A>C (p.Lys1565Thr) rs76086153 0.00080
NM_001277115.2(DNAH11):c.7325A>G (p.Lys2442Arg) rs114286628 0.00080
NM_001378454.1(ALMS1):c.4344A>G (p.Leu1448=) rs200459890 0.00080
NM_001378615.1(CC2D2A):c.1017+7G>A rs137919504 0.00080
NM_001378615.1(CC2D2A):c.1956G>A (p.Pro652=) rs375131519 0.00080
NM_001848.3(COL6A1):c.350T>C (p.Val117Ala) rs138899581 0.00080
NM_001848.3(COL6A1):c.996C>T (p.Gly332=) rs11702055 0.00080
NM_003049.4(SLC10A1):c.702T>G (p.Phe234Leu) rs139931299 0.00080
NM_004565.3(PEX14):c.29C>G (p.Pro10Arg) rs12068754 0.00080
NM_005045.4(RELN):c.4182A>G (p.Ser1394=) rs147496823 0.00080
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) rs138951890 0.00080
NM_012418.4(FSCN2):c.492C>T (p.Asp164=) rs370382419 0.00080
NM_022124.6(CDH23):c.1301A>G (p.Asn434Ser) rs139287714 0.00080
NM_025114.4(CEP290):c.2487A>G (p.Glu829=) rs371159780 0.00080
NM_153676.4(USH1C):c.2443C>T (p.Leu815=) rs148477093 0.00080
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val) rs139897506 0.00080
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=) rs137919524 0.00080
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro) rs151247098 0.00080
NM_182961.4(SYNE1):c.8015T>C (p.Leu2672Pro) rs147870520 0.00080
NM_201384.3(PLEC):c.1878T>A (p.Thr626=) rs377039110 0.00080
NM_201384.3(PLEC):c.2478C>T (p.Asp826=) rs202135215 0.00080
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser) rs149636614 0.00079
NM_000051.4(ATM):c.3517T>C (p.Leu1173=) rs141460670 0.00079
NM_000051.4(ATM):c.7928-10T>C rs188404773 0.00079
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg) rs140169311 0.00079
NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln) rs144562730 0.00079
NM_000540.3(RYR1):c.10119G>A (p.Val3373=) rs140689610 0.00079
NM_001004334.4(GPR179):c.5982C>T (p.Ala1994=) rs185715311 0.00079
NM_001267550.2(TTN):c.1537-4G>A rs56006378 0.00079
NM_001267550.2(TTN):c.20025C>A (p.Ala6675=) rs373842558 0.00079
NM_001267550.2(TTN):c.45174C>T (p.Gly15058=) rs372609980 0.00079
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile) rs56130023 0.00079
NM_001267550.2(TTN):c.85248A>T (p.Thr28416=) rs187180708 0.00079
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=) rs190406444 0.00079
NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu) rs142585703 0.00079
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met) rs141353229 0.00079
NM_001379270.1(CNGA1):c.360C>T (p.Asn120=) rs147591591 0.00079
NM_001844.5(COL2A1):c.1068G>A (p.Pro356=) rs147202936 0.00079
NM_001851.6(COL9A1):c.2585A>C (p.Asp862Ala) rs202176764 0.00079
NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro) rs150572999 0.00079
NM_004463.3(FGD1):c.482-10G>A rs146783766 0.00079
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser) rs147366706 0.00079
NM_012254.3(SLC27A5):c.934G>A (p.Val312Ile) rs146682651 0.00079
NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala) rs200532919 0.00079
NM_018668.5(VPS33B):c.1714T>G (p.Phe572Val) rs145092724 0.00079
NM_023110.3(FGFR1):c.1098G>A (p.Pro366=) rs56174879 0.00079
NM_024596.5(MCPH1):c.1818C>T (p.Tyr606=) rs377400638 0.00079
NM_025132.4(WDR19):c.2364-3del rs757992911 0.00079
NM_153717.3(EVC):c.1770C>T (p.Asp590=) rs141755737 0.00079
NM_201384.3(PLEC):c.7121G>A (p.Arg2374Gln) rs201417343 0.00079
NM_207122.2(EXT2):c.1588G>A (p.Glu530Lys) rs148711133 0.00079
NM_207361.6(FREM2):c.177T>C (p.Gly59=) rs370018440 0.00079
NM_207361.6(FREM2):c.2823C>T (p.Pro941=) rs150154438 0.00079
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328 0.00078
NM_000117.3(EMD):c.466G>A (p.Gly156Ser) rs144594695 0.00078
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_000217.3(KCNA1):c.1327C>G (p.Arg443Gly) rs150849316 0.00078
NM_000297.4(PKD2):c.784G>A (p.Val262Met) rs138132026 0.00078
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=) rs117400594 0.00078
NM_000392.5(ABCC2):c.1967+1G>A rs146405172 0.00078
NM_000392.5(ABCC2):c.4495A>G (p.Met1499Val) rs149200446 0.00078
NM_001032221.6(STXBP1):c.6C>T (p.Ala2=) rs144094037 0.00078
NM_001038.6(SCNN1A):c.1484C>T (p.Ser495Leu) rs148749888 0.00078
NM_001083961.2(WDR62):c.3303G>A (p.Thr1101=) rs117887683 0.00078
NM_001105206.3(LAMA4):c.4678C>A (p.Arg1560=) rs150069819 0.00078
NM_001130438.3(SPTAN1):c.6960-8T>C rs140241053 0.00078
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn) rs144963736 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_001277313.2(FMN1):c.3974A>G (p.Gln1325Arg) rs147769257 0.00078
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met) rs72954276 0.00078
NM_001384732.1(CPLANE1):c.2132C>T (p.Ser711Leu) rs116237993 0.00078
NM_001848.3(COL6A1):c.381C>T (p.Thr127=) rs75180385 0.00078
NM_002693.3(POLG):c.2853C>T (p.Tyr951=) rs41546712 0.00078
NM_002857.4(PEX19):c.564G>A (p.Leu188=) rs149058086 0.00078
NM_005199.5(CHRNG):c.775G>A (p.Ala259Thr) rs138125827 0.00078
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val) rs140954748 0.00078
NM_005982.4(SIX1):c.330G>A (p.Arg110=) rs73309461 0.00078
NM_006005.3(WFS1):c.1143G>A (p.Leu381=) rs151153967 0.00078
NM_014795.4(ZEB2):c.798G>C (p.Gly266=) rs34961586 0.00078
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=) rs35575973 0.00078
NM_015139.3(SLC35D1):c.814G>A (p.Ala272Thr) rs143218310 0.00078
NM_016616.5(NME8):c.271-3T>C rs191137504 0.00078
NM_017433.5(MYO3A):c.3538G>A (p.Glu1180Lys) rs184043065 0.00078
NM_017780.4(CHD7):c.7165-5A>G rs376076407 0.00078
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_022437.3(ABCG8):c.1411+8T>A rs201991639 0.00078
NM_032119.4(ADGRV1):c.10563T>C (p.Leu3521=) rs200946170 0.00078
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_170699.3(GPBAR1):c.701G>T (p.Gly234Val) rs201017530 0.00078
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser) rs60662302 0.00078
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285 0.00078
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly) rs147934285 0.00077
NM_000117.3(EMD):c.396C>T (p.His132=) rs145985318 0.00077
NM_000156.6(GAMT):c.581T>C (p.Val194Ala) rs147739199 0.00077
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro) rs368060 0.00077
NM_000284.4(PDHA1):c.507G>A (p.Ala169=) rs141862527 0.00077
NM_000548.5(TSC2):c.255C>T (p.Val85=) rs45517098 0.00077
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=) rs35282988 0.00077
NM_001077365.2(POMT1):c.986+9A>G rs202095070 0.00077
NM_001083961.2(WDR62):c.1228G>T (p.Val410Leu) rs139460397 0.00077
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp) rs199422217 0.00077
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu) rs139398993 0.00077
NM_001142800.2(EYS):c.1660T>A (p.Cys554Ser) rs145102275 0.00077
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705 0.00077
NM_001164508.2(NEB):c.1258-7C>G rs371265681 0.00077
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His) rs148169214 0.00077
NM_001277313.2(FMN1):c.2718G>A (p.Pro906=) rs370019638 0.00077
NM_001374385.1(ATP8B1):c.1072G>A (p.Gly358Ser) rs193204986 0.00077
NM_001849.4(COL6A2):c.2882C>T (p.Ala961Val) rs138674440 0.00077
NM_001851.6(COL9A1):c.2240C>G (p.Pro747Arg) rs149459564 0.00077
NM_001927.4(DES):c.170C>T (p.Ser57Leu) rs372825868 0.00077
NM_004187.5(KDM5C):c.108C>T (p.Pro36=) rs139309563 0.00077
NM_005670.4(EPM2A):c.24G>A (p.Val8=) rs587780938 0.00077
NM_005876.5(SPEG):c.6694C>A (p.Pro2232Thr) rs371302780 0.00077
NM_006642.5(SDCCAG8):c.1380G>C (p.Gln460His) rs79762798 0.00077
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr) rs143155918 0.00077
NM_012188.5(FOXI1):c.442C>G (p.Gln148Glu) rs553561553 0.00077
NM_014956.5(CEP164):c.1438C>T (p.Arg480Trp) rs112209873 0.00077
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=) rs150296373 0.00077
NM_022458.4(LMBR1):c.843G>A (p.Arg281=) rs140806590 0.00077
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln) rs145343609 0.00077
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr) rs140095832 0.00077
NM_201384.3(PLEC):c.8976C>T (p.Ile2992=) rs375914011 0.00077
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=) rs111033525 0.00077
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00076
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met) rs61753019 0.00076
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr) rs147196739 0.00076
NM_001003722.2(GLE1):c.5C>G (p.Pro2Arg) rs150246404 0.00076
NM_001130987.2(DYSF):c.2034G>A (p.Val678=) rs138111360 0.00076
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His) rs186476316 0.00076
NM_001267550.2(TTN):c.15860C>T (p.Thr5287Met) rs148551876 0.00076
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=) rs143368674 0.00076
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His) rs201505306 0.00076
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=) rs201285872 0.00076
NM_001353214.3(DYM):c.946+7G>A rs150849326 0.00076
NM_001365536.1(SCN9A):c.688+9T>C rs188814235 0.00076
NM_001377.3(DYNC2H1):c.5798A>G (p.Glu1933Gly) rs201829296 0.00076
NM_001848.3(COL6A1):c.1584G>A (p.Pro528=) rs139243418 0.00076
NM_001848.3(COL6A1):c.2968A>C (p.Lys990Gln) rs141663473 0.00076
NM_002180.3(IGHMBP2):c.1060+8G>T rs201147313 0.00076
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=) rs144807538 0.00076
NM_002739.5(PRKCG):c.1524C>A (p.Pro508=) rs115736276 0.00076
NM_003193.5(TBCE):c.253A>G (p.Ile85Val) rs143886167 0.00076
NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653 0.00076
NM_004369.4(COL6A3):c.1024G>A (p.Val342Met) rs111402193 0.00076
NM_004369.4(COL6A3):c.6138C>T (p.Ile2046=) rs115401779 0.00076
NM_004667.6(HERC2):c.2747-3C>A rs200632307 0.00076
NM_005045.4(RELN):c.3913-9T>C rs372473867 0.00076
NM_005199.5(CHRNG):c.1100T>C (p.Val367Ala) rs74691009 0.00076
NM_006005.3(WFS1):c.1152C>T (p.Phe384=) rs149846741 0.00076
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083 0.00076
NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His) rs104894649 0.00076
NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=) rs142454880 0.00076
NM_014425.5(INVS):c.1925A>G (p.Lys642Arg) rs116314059 0.00076
NM_015102.5(NPHP4):c.3843G>T (p.Leu1281=) rs9662691 0.00076
NM_016239.4(MYO15A):c.269T>C (p.Met90Thr) rs373294263 0.00076
NM_016341.4(PLCE1):c.4935G>A (p.Leu1645=) rs369632735 0.00076
NM_017780.4(CHD7):c.3202-5T>C rs147994149 0.00076
NM_024915.4(GRHL2):c.804C>T (p.Thr268=) rs55682875 0.00076
NM_030662.4(MAP2K2):c.498C>T (p.Pro166=) rs139404261 0.00076
NM_030665.4(RAI1):c.3357C>T (p.Ser1119=) rs139448147 0.00076
NM_032119.4(ADGRV1):c.1033C>A (p.Gln345Lys) rs201236317 0.00076
NM_201384.3(PLEC):c.8182A>G (p.Ile2728Val) rs200061415 0.00076
NM_201548.5(CERKL):c.1523C>T (p.Ser508Leu) rs146913105 0.00076
NM_000023.4(SGCA):c.366G>A (p.Leu122=) rs147739328 0.00075
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_000117.3(EMD):c.495G>A (p.Thr165=) rs151074632 0.00075
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_000288.4(PEX7):c.339+10A>G rs374668045 0.00075
NM_000489.6(ATRX):c.2540T>C (p.Phe847Ser) rs45624939 0.00075
NM_000500.9(CYP21A2):c.1306C>T (p.Arg436Cys) rs767333157 0.00075
NM_000883.4(IMPDH1):c.1173A>G (p.Thr391=) rs138502867 0.00075
NM_001110556.2(FLNA):c.3064C>G (p.Pro1022Ala) rs200150148 0.00075
NM_001130987.2(DYSF):c.6174-9C>T rs201070766 0.00075
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=) rs201155967 0.00075
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=) rs72646867 0.00075
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys) rs142525903 0.00075
NM_001297.5(CNGB1):c.3135C>T (p.Asn1045=) rs539304668 0.00075
NM_001374385.1(ATP8B1):c.1892G>A (p.Arg631Gln) rs150499790 0.00075
NM_002206.3(ITGA7):c.2293A>G (p.Ile765Val) rs148641361 0.00075
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543 0.00075
NM_003179.3(SYP):c.612G>A (p.Ser204=) rs145093168 0.00075
NM_003482.4(KMT2D):c.1120C>A (p.Pro374Thr) rs202013880 0.00075
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg) rs113153193 0.00075
NM_005097.4(LGI1):c.600C>T (p.Cys200=) rs148862146 0.00075
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981 0.00075
NM_006343.3(MERTK):c.1261C>T (p.Arg421Trp) rs142985827 0.00075
NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala) rs148962110 0.00075
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro) rs754894988 0.00075
NM_020822.3(KCNT1):c.942C>T (p.Thr314=) rs144766991 0.00075
NM_052989.3(IFT122):c.1026C>T (p.Asp342=) rs79187669 0.00075
NM_080916.3(DGUOK):c.630G>A (p.Glu210=) rs115206553 0.00075
NM_138694.4(PKHD1):c.7912-5T>G rs371510537 0.00075
NM_206933.4(USH2A):c.12046G>A (p.Val4016Met) rs138803855 0.00075
NM_000193.4(SHH):c.1078C>T (p.Leu360=) rs191903572 0.00074
NM_000283.4(PDE6B):c.1401+7_1401+8insA rs537010934 0.00074
NM_000316.3(PTH1R):c.313+4C>T rs200207404 0.00074
NM_000550.3(TYRP1):c.785C>T (p.Thr262Met) rs61752939 0.00074
NM_001017420.3(ESCO2):c.1013+7A>G rs149494070 0.00074
NM_001127222.2(CACNA1A):c.3355G>A (p.Ala1119Thr) rs199745070 0.00074
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308 0.00074
NM_001184880.2(PCDH19):c.3235C>G (p.Pro1079Ala) rs200854927 0.00074
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile) rs200387466 0.00074
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=) rs190830121 0.00074
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=) rs151335428 0.00074
NM_001291867.2(NHS):c.3929G>T (p.Gly1310Val) rs41304731 0.00074
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser) rs200792504 0.00074
NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr) rs141609058 0.00074
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu) rs180775012 0.00074
NM_006946.4(SPTBN2):c.1657C>T (p.Arg553Trp) rs116099040 0.00074
NM_013296.5(GPSM2):c.1486T>A (p.Leu496Ile) rs61758992 0.00074
NM_014425.5(INVS):c.2311G>A (p.Asp771Asn) rs115754570 0.00074
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn) rs148424288 0.00074
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) rs187473846 0.00074
NM_024408.4(NOTCH2):c.5074A>G (p.Ile1692Val) rs143134864 0.00074
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln) rs202190568 0.00074
NM_152594.3(SPRED1):c.702C>G (p.Ile234Met) rs138553244 0.00074
NM_201384.3(PLEC):c.2263G>A (p.Ala755Thr) rs200173947 0.00074
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842 0.00073
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=) rs117672175 0.00073
NM_000163.5(GHR):c.686G>A (p.Arg229His) rs6177 0.00073
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606 0.00073
NM_000260.4(MYO7A):c.3503+17G>A rs369969967 0.00073
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334 0.00073
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_000540.3(RYR1):c.5364T>G (p.Ala1788=) rs200950362 0.00073
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_000742.4(CHRNA2):c.684C>T (p.Ser228=) rs143536618 0.00073
NM_001083961.2(WDR62):c.2529C>T (p.Asp843=) rs144697999 0.00073
NM_001097577.3(ANG):c.208A>G (p.Ile70Val) rs121909541 0.00073
NM_001165963.4(SCN1A):c.3948G>A (p.Arg1316=) rs149579028 0.00073
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) rs121917956 0.00073
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg) rs200594798 0.00073
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_001277313.2(FMN1):c.2044-1493G>T rs201555719 0.00073
NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser) rs202205643 0.00073
NM_001374353.1(GLI2):c.3979C>T (p.Leu1327=) rs149290823 0.00073
NM_001378414.1(HDAC4):c.681C>T (p.His227=) rs148880349 0.00073
NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala) rs200427832 0.00073
NM_001379180.1(ESRRB):c.414G>A (p.Val138=) rs141586518 0.00073
NM_002473.6(MYH9):c.2871C>T (p.Ser957=) rs374840260 0.00073
NM_003119.4(SPG7):c.1324+10C>T rs202070075 0.00073
NM_003482.4(KMT2D):c.1187C>G (p.Pro396Arg) rs377452989 0.00073
NM_004006.3(DMD):c.1731A>T (p.Glu577Asp) rs150199251 0.00073
NM_004525.3(LRP2):c.3311A>G (p.His1104Arg) rs144906000 0.00073
NM_004586.3(RPS6KA3):c.1884A>T (p.Glu628Asp) rs150107747 0.00073
NM_005068.3(SIM1):c.279C>T (p.Phe93=) rs145361258 0.00073
NM_005422.4(TECTA):c.2604G>T (p.Thr868=) rs139509847 0.00073
NM_005957.5(MTHFR):c.1625A>C (p.Asn542Thr) rs145641996 0.00073
NM_006269.2(RP1):c.228C>T (p.Leu76=) rs142600056 0.00073
NM_006516.4(SLC2A1):c.894C>T (p.Phe298=) rs140825318 0.00073
NM_014714.4(IFT140):c.1667A>G (p.His556Arg) rs137925718 0.00073
NM_018941.4(CLN8):c.513C>G (p.Pro171=) rs376910635 0.00073
NM_020975.6(RET):c.1124T>A (p.Leu375Gln) rs142338976 0.00073
NM_022039.4(FBXW4):c.1380C>T (p.Phe460=) rs145250200 0.00073
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=) rs140815139 0.00073
NM_025114.4(CEP290):c.341G>A (p.Arg114His) rs150296134 0.00073
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu) rs113342704 0.00073
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val) rs139306706 0.00073
NM_145200.5(CABP4):c.547G>C (p.Gly183Arg) rs146764702 0.00073
NM_152564.5(VPS13B):c.10240T>C (p.Leu3414=) rs145279584 0.00073
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys) rs149478021 0.00073
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr) rs113962905 0.00073
NM_201384.3(PLEC):c.12190G>A (p.Glu4064Lys) rs200206105 0.00073
NM_201384.3(PLEC):c.2642C>T (p.Thr881Met) rs200611519 0.00073
NM_201384.3(PLEC):c.4351G>A (p.Glu1451Lys) rs868906137 0.00073
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_001004320.2(AGMO):c.1213C>T (p.Arg405Ter) rs139309795 0.00072
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534 0.00072
NM_001177316.2(SLC34A3):c.1484G>C (p.Gly495Ala) rs140869490 0.00072
NM_001367721.1(CASK):c.1794C>T (p.Asn598=) rs143991107 0.00072
NM_001368397.1(FRMPD4):c.2829C>T (p.Tyr943=) rs140515130 0.00072
NM_003835.4(RGS9):c.1658T>C (p.Val553Ala) rs201026246 0.00072
NM_004369.4(COL6A3):c.7849G>A (p.Asp2617Asn) rs138285547 0.00072
NM_004385.5(VCAN):c.6767T>C (p.Leu2256Pro) rs146630369 0.00072
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn) rs117209107 0.00072
NM_005045.4(RELN):c.1035A>G (p.Leu345=) rs113998363 0.00072
NM_005562.3(LAMC2):c.3206C>T (p.Thr1069Met) rs139043074 0.00072
NM_006642.5(SDCCAG8):c.925G>A (p.Val309Ile) rs149359674 0.00072
NM_006767.4(LZTR1):c.1990G>A (p.Ala664Thr) rs140874089 0.00072
NM_006922.4(SCN3A):c.2304T>C (p.Ile768=) rs72870766 0.00072
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=) rs149185385 0.00072
NM_020779.4(WDR35):c.3467T>G (p.Ile1156Arg) rs147325795 0.00072
NM_022081.6(HPS4):c.*5C>T rs373741660 0.00072
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279 0.00072
NM_031471.6(FERMT3):c.615C>T (p.Pro205=) rs142774418 0.00072
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=) rs139436386 0.00072
NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg) rs201667254 0.00072
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000346.4(SOX9):c.531G>A (p.Arg177=) rs144824678 0.00071
NM_000350.3(ABCA4):c.4342G>A (p.Gly1448Arg) rs142506651 0.00071
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203 0.00071
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00071
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=) rs370996795 0.00071
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=) rs138064129 0.00071
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) rs147143094 0.00071
NM_001083961.2(WDR62):c.1769-7C>T rs137919897 0.00071
NM_001089.3(ABCA3):c.2675G>A (p.Arg892His) rs142687030 0.00071
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) rs200048692 0.00071
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp) rs148541407 0.00071
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val) rs200728466 0.00071
NM_001199107.2(TBC1D24):c.1473C>G (p.Pro491=) rs370427146 0.00071
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794 0.00071
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=) rs55838839 0.00071
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279 0.00071
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr) rs188878341 0.00071
NM_001267550.2(TTN):c.44529C>T (p.His14843=) rs55973744 0.00071
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) rs56399205 0.00071
NM_001374385.1(ATP8B1):c.3725C>G (p.Thr1242Ser) rs139012426 0.00071
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=) rs201388780 0.00071
NM_001457.4(FLNB):c.3288C>T (p.Ser1096=) rs77934864 0.00071
NM_002206.3(ITGA7):c.1828G>A (p.Gly610Arg) rs150583010 0.00071
NM_002693.3(POLG):c.578G>A (p.Arg193Gln) rs3176162 0.00071
NM_003336.4(UBE2A):c.321A>G (p.Thr107=) rs61757566 0.00071
NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr) rs183621659 0.00071
NM_004006.3(DMD):c.4093C>T (p.Leu1365Phe) rs148781346 0.00071
NM_004006.3(DMD):c.5476G>C (p.Glu1826Gln) rs140913030 0.00071
NM_007254.4(PNKP):c.501G>A (p.Val167=) rs142143566 0.00071
NM_007317.3(KIF22):c.1048C>T (p.Arg350Cys) rs149860938 0.00071
NM_012418.4(FSCN2):c.984-7C>T rs139335460 0.00071
NM_018136.5(ASPM):c.3189A>G (p.Leu1063=) rs146858888 0.00071
NM_018451.5(CPAP):c.3922G>A (p.Val1308Ile) rs140564566 0.00071
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser) rs149925563 0.00071
NM_057176.3(BSND):c.715C>T (p.Gln239Ter) rs147394986 0.00071
NM_133379.5(TTN):c.11075G>C (p.Ser3692Thr) rs147314430 0.00071
NM_133379.5(TTN):c.16613G>A (p.Arg5538His) rs145932311 0.00071
NM_144596.4(TTC8):c.1231G>A (p.Gly411Arg) rs139773124 0.00071
NM_153704.6(TMEM67):c.107C>T (p.Ala36Val) rs34779331 0.00071
NM_182961.4(SYNE1):c.7647C>T (p.His2549=) rs113163375 0.00071
NM_198428.3(BBS9):c.2214C>T (p.Ile738=) rs148536971 0.00071
NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu) rs141391984 0.00070
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_000183.3(HADHB):c.246A>G (p.Ala82=) rs151302743 0.00070
NM_000274.4(OAT):c.48C>T (p.Arg16=) rs143526711 0.00070
NM_000368.5(TSC1):c.273G>A (p.Ser91=) rs115097221 0.00070
NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu) rs199915216 0.00070
NM_000744.7(CHRNA4):c.1441G>A (p.Gly481Ser) rs111969225 0.00070
NM_001083961.2(WDR62):c.922A>G (p.Ile308Val) rs146229976 0.00070
NM_001110792.2(MECP2):c.644C>T (p.Thr215Met) rs61749720 0.00070
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile) rs201836062 0.00070
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00070
NM_001267550.2(TTN):c.30224-8T>G rs72650010 0.00070
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871 0.00070
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr) rs72648263 0.00070
NM_001351132.2(PEX5):c.1178G>A (p.Arg393Gln) rs145690714 0.00070
NM_001371279.1(REEP1):c.231G>A (p.Leu77=) rs139808535 0.00070
NM_001453.3(FOXC1):c.597C>G (p.Arg199=) rs529227054 0.00070
NM_001701.4(BAAT):c.685G>A (p.Val229Ile) rs141722672 0.00070
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=) rs143651470 0.00070
NM_003896.4(ST3GAL5):c.1212G>A (p.Glu404=) rs148195895 0.00070
NM_004380.3(CREBBP):c.3698+7G>A rs374345970 0.00070
NM_004568.6(SERPINB6):c.750C>T (p.Tyr250=) rs35617833 0.00070
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=) rs139091551 0.00070
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699 0.00070
NM_022124.6(CDH23):c.5667C>T (p.Asn1889=) rs375358318 0.00070
NM_024312.5(GNPTAB):c.323+36A>G rs182910639 0.00070
NM_133642.5(LARGE1):c.1962G>A (p.Glu654=) rs141089495 0.00070
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile) rs138968608 0.00070
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042 0.00070
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_178138.6(LHX3):c.929G>C (p.Arg310Pro) rs201591640 0.00070
NM_182961.4(SYNE1):c.22617C>T (p.Leu7539=) rs111367233 0.00070
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) rs138836357 0.00069
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756 0.00069
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) rs151027388 0.00069
NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr) rs148938083 0.00069
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=) rs111033193 0.00069
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=) rs140963147 0.00069
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) rs146839867 0.00069
NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe) rs199794705 0.00069
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764 0.00069
NM_001127222.2(CACNA1A):c.1083-4C>G rs201056216 0.00069
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=) rs184319249 0.00069
NM_001267550.2(TTN):c.76019T>A (p.Val25340Asp) rs200287703 0.00069
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His) rs72648206 0.00069
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) rs200173934 0.00069
NM_001277115.2(DNAH11):c.2166A>G (p.Pro722=) rs191266255 0.00069
NM_001371623.1(TCOF1):c.3620A>G (p.Tyr1207Cys) rs146226591 0.00069
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=) rs201366522 0.00069
NM_001966.4(EHHADH):c.1814A>G (p.Lys605Arg) rs140844253 0.00069
NM_004006.3(DMD):c.10262+1G>A rs145603325 0.00069
NM_004006.3(DMD):c.4125T>C (p.Thr1375=) rs144329742 0.00069
NM_004999.4(MYO6):c.3529C>T (p.Arg1177Cys) rs146419641 0.00069
NM_006017.3(PROM1):c.1469G>A (p.Ser490Asn) rs201027172 0.00069
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=) rs148818431 0.00069
NM_014927.5(CNKSR2):c.2199G>A (p.Thr733=) rs113091231 0.00069
NM_015102.5(NPHP4):c.3851G>A (p.Arg1284His) rs61739637 0.00069
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_020754.4(ARHGAP31):c.452G>A (p.Arg151Gln) rs201519981 0.00069
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=) rs148632119 0.00069
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=) rs142788731 0.00069
NM_139058.3(ARX):c.447G>C (p.Ala149=) rs745705522 0.00069
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934 0.00069
NM_201384.3(PLEC):c.11208G>A (p.Pro3736=) rs200273549 0.00069
NM_206933.4(USH2A):c.5265C>T (p.Phe1755=) rs147371835 0.00069
NM_000443.4(ABCB4):c.696C>T (p.Ala232=) rs8187791 0.00068
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154 0.00068
NM_001017995.3(SH3PXD2B):c.785+4C>G rs369555721 0.00068
NM_001039876.3(SYNE4):c.243T>C (p.Ser81=) rs149158221 0.00068
NM_001040142.2(SCN2A):c.5505C>T (p.Asn1835=) rs6706924 0.00068
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288 0.00068
NM_001191061.2(SLC25A22):c.140C>T (p.Thr47Met) rs142220309 0.00068
NM_001267550.2(TTN):c.106920G>A (p.Leu35640=) rs183923129 0.00068
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704 0.00068
NM_001347721.2(DYRK1A):c.1644+73C>A rs200322053 0.00068
NM_001378120.1(MBD5):c.3743A>G (p.Gln1248Arg) rs143028540 0.00068
NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln) rs149641783 0.00068
NM_001458.5(FLNC):c.6808G>A (p.Glu2270Lys) rs202223616 0.00068
NM_001849.4(COL6A2):c.1761C>T (p.Pro587=) rs146311719 0.00068
NM_004333.6(BRAF):c.1332G>A (p.Arg444=) rs56101602 0.00068
NM_005199.5(CHRNG):c.663G>A (p.Ala221=) rs150556220 0.00068
NM_005957.5(MTHFR):c.667G>A (p.Asp223Asn) rs150847674 0.00068
NM_006005.3(WFS1):c.2233G>A (p.Gly745Ser) rs139185707 0.00068
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=) rs372175239 0.00068
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=) rs78388808 0.00068
NM_014028.4(OSTM1):c.134A>G (p.Asp45Gly) rs202093691 0.00068
NM_017534.6(MYH2):c.4774C>A (p.Leu1592Met) rs138393827 0.00068
NM_018006.5(TRMU):c.900G>T (p.Leu300=) rs113846383 0.00068
NM_025132.4(WDR19):c.2671C>T (p.His891Tyr) rs200266424 0.00068
NM_058246.4(DNAJB6):c.962C>T (p.Ser321Leu) rs142974468 0.00068
NM_130837.3(OPA1):c.254G>A (p.Arg85His) rs35630194 0.00068
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_153240.5(NPHP3):c.2442T>C (p.Tyr814=) rs111683745 0.00068
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly) rs147545395 0.00068
NM_173477.5(USH1G):c.1012G>A (p.Gly338Arg) rs151242039 0.00068
NM_182961.4(SYNE1):c.12255G>A (p.Gln4085=) rs145401144 0.00068
NM_182961.4(SYNE1):c.24985A>G (p.Ser8329Gly) rs142690727 0.00068
NM_206933.4(USH2A):c.5802G>A (p.Ser1934=) rs149776188 0.00068
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala) rs17848485 0.00067
NM_000137.4(FAH):c.553+10C>T rs201051426 0.00067
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220 0.00067
NM_000318.3(PEX2):c.722G>T (p.Gly241Val) rs150734057 0.00067
NM_000478.6(ALPL):c.612C>T (p.Ile204=) rs141448778 0.00067
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val) rs45517171 0.00067
NM_000551.4(VHL):c.183C>G (p.Pro61=) rs63650860 0.00067
NM_000875.5(IGF1R):c.2570A>G (p.Asn857Ser) rs45611935 0.00067
NM_000875.5(IGF1R):c.4009C>T (p.Arg1337Cys) rs141802822 0.00067
NM_001017420.3(ESCO2):c.1031A>C (p.Gln344Pro) rs143346057 0.00067
NM_001039958.2(MESP2):c.*9G>A rs187680280 0.00067
NM_001083962.2(TCF4):c.1923G>A (p.Glu641=) rs76956936 0.00067
NM_001083962.2(TCF4):c.269A>G (p.Asn90Ser) rs143244149 0.00067
NM_001130823.3(DNMT1):c.2472G>A (p.Thr824=) rs45484792 0.00067
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086 0.00067
NM_001159699.2(FHL1):c.114G>A (p.Lys38=) rs140149764 0.00067
NM_001242957.3(MAK):c.975G>A (p.Pro325=) rs145014649 0.00067
NM_001292063.2(OTOG):c.4627G>A (p.Ala1543Thr) rs545740473 0.00067
NM_001330677.2(TBX15):c.1728A>G (p.Gln576=) rs200564235 0.00067
NM_001368397.1(FRMPD4):c.3738C>T (p.His1246=) rs151079505 0.00067
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366 0.00067
NM_001457.4(FLNB):c.4307G>A (p.Arg1436Gln) rs140018418 0.00067
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=) rs145884117 0.00067
NM_001851.6(COL9A1):c.1053G>A (p.Ser351=) rs75433477 0.00067
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu) rs757712173 0.00067
NM_002857.4(PEX19):c.498T>G (p.Asp166Glu) rs142780305 0.00067
NM_004100.5(EYA4):c.866C>T (p.Thr289Met) rs41286200 0.00067
NM_004403.3(GSDME):c.823A>G (p.Ile275Val) rs149956122 0.00067
NM_006348.5(COG5):c.1037C>T (p.Pro346Leu) rs143773937 0.00067
NM_012470.4(TNPO3):c.-9G>A rs201636723 0.00067
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015 0.00067
NM_014425.5(INVS):c.367C>T (p.Arg123Trp) rs149315279 0.00067
NM_014795.4(ZEB2):c.2206A>G (p.Met736Val) rs139191491 0.00067
NM_016239.4(MYO15A):c.8157C>T (p.His2719=) rs373955726 0.00067
NM_024408.4(NOTCH2):c.2830G>T (p.Asp944Tyr) rs151130105 0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_024596.5(MCPH1):c.1273T>A (p.Tyr425Asn) rs201261159 0.00067
NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala) rs369227219 0.00067
NM_025243.4(SLC19A3):c.801A>G (p.Gln267=) rs147205930 0.00067
NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys) rs200392821 0.00067
NM_139343.3(BIN1):c.30G>A (p.Thr10=) rs35535012 0.00067
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_198904.4(GABRG2):c.798T>C (p.Phe266=) rs115126975 0.00067
NM_203447.4(DOCK8):c.3263C>T (p.Thr1088Met) rs149065013 0.00067
NM_000057.4(BLM):c.2919C>T (p.Tyr973=) rs181161119 0.00066
NM_000059.4(BRCA2):c.-15A>C rs138705202 0.00066
NM_000179.3(MSH6):c.1665A>G (p.Ala555=) rs146785465 0.00066
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549 0.00066
NM_000426.4(LAMA2):c.6268+5G>C rs182064878 0.00066
NM_000466.3(PEX1):c.2645C>T (p.Pro882Leu) rs141764012 0.00066
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421 0.00066
NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=) rs56142348 0.00066
NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr) rs117896500 0.00066
NM_001083961.2(WDR62):c.3612C>T (p.Gly1204=) rs139946168 0.00066
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val) rs147445499 0.00066
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=) rs41308303 0.00066
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=) rs200750234 0.00066
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=) rs138101005 0.00066
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00066
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202 0.00066
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237 0.00066
NM_001378454.1(ALMS1):c.3305A>C (p.Lys1102Thr) rs185586839 0.00066
NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=) rs200491758 0.00066
NM_001384140.1(PCDH15):c.5022C>T (p.Ala1674=) rs377244811 0.00066
NM_001966.4(EHHADH):c.881C>T (p.Ala294Val) rs140514906 0.00066
NM_002206.3(ITGA7):c.1722C>A (p.Ala574=) rs142311782 0.00066
NM_002241.5(KCNJ10):c.615A>G (p.Lys205=) rs142228240 0.00066
NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr) rs151036570 0.00066
NM_002473.6(MYH9):c.591G>A (p.Ser197=) rs140241271 0.00066
NM_002768.5(CHMP1A):c.198G>A (p.Ala66=) rs201479143 0.00066
NM_002905.5(RDH5):c.753C>T (p.Arg251=) rs141783438 0.00066
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760 0.00066
NM_003482.4(KMT2D):c.11380C>T (p.Pro3794Ser) rs113997424 0.00066
NM_003742.4(ABCB11):c.383G>A (p.Arg128His) rs181533618 0.00066
NM_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu) rs148185533 0.00066
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362 0.00066
NM_004006.3(DMD):c.1812C>T (p.Ala604=) rs140919039 0.00066
NM_004006.3(DMD):c.4233+2C>T rs147474070 0.00066
NM_004098.4(EMX2):c.105A>T (p.Ala35=) rs373030604 0.00066
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln) rs148038440 0.00066
NM_004463.3(FGD1):c.1647G>A (p.Glu549=) rs142114385 0.00066
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832 0.00066
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) rs146309392 0.00066
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740 0.00066
NM_013382.7(POMT2):c.1935C>T (p.Leu645=) rs141193672 0.00066
NM_018136.5(ASPM):c.1007C>A (p.Thr336Lys) rs112113370 0.00066
NM_018136.5(ASPM):c.844A>C (p.Asn282His) rs113777932 0.00066
NM_018136.5(ASPM):c.905G>A (p.Cys302Tyr) rs77736715 0.00066
NM_024301.5(FKRP):c.606G>A (p.Leu202=) rs140084192 0.00066
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) rs138749562 0.00066
NM_024649.5(BBS1):c.616T>G (p.Leu206Val) rs146052054 0.00066
NM_025265.4(TSEN2):c.1332A>G (p.Lys444=) rs113981920 0.00066
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val) rs142981643 0.00066
NM_032119.4(ADGRV1):c.15177G>T (p.Gln5059His) rs201416399 0.00066
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile) rs145651593 0.00066
NM_147196.3(TMIE):c.206C>T (p.Ser69Phe) rs188085072 0.00066
NM_152564.5(VPS13B):c.7647C>T (p.Phe2549=) rs112634620 0.00066
NM_153240.5(NPHP3):c.2769C>T (p.Phe923=) rs116174472 0.00066
NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=) rs201799566 0.00066
NM_000306.4(POU1F1):c.605-5T>G rs201406891 0.00065
NM_000426.4(LAMA2):c.2115T>G (p.Leu705=) rs149753273 0.00065
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610 0.00065
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_000660.7(TGFB1):c.918C>T (p.Leu306=) rs72480429 0.00065
NM_001008215.3(COA5):c.*3C>G rs372867268 0.00065
NM_001130987.2(DYSF):c.990C>T (p.Leu330=) rs140809078 0.00065
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027 0.00065
NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg) rs200550947 0.00065
NM_001267550.2(TTN):c.63879C>T (p.Asp21293=) rs200463088 0.00065
NM_001277313.2(FMN1):c.2044-2686C>T rs202063843 0.00065
NM_001353214.3(DYM):c.1943A>G (p.Gln648Arg) rs146000214 0.00065
NM_001378454.1(ALMS1):c.3942A>C (p.Ser1314=) rs186449817 0.00065
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly) rs201390755 0.00065
NM_001386298.1(CIC):c.5279C>T (p.Ala1760Val) rs45596843 0.00065
NM_004086.3(COCH):c.153A>C (p.Pro51=) rs573330522 0.00065
NM_004608.4(TBX6):c.585C>T (p.Val195=) rs148435229 0.00065
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659 0.00065
NM_005732.4(RAD50):c.671G>A (p.Arg224His) rs28903088 0.00065
NM_006017.3(PROM1):c.1610A>G (p.Asp537Gly) rs200545555 0.00065
NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly) rs62617075 0.00065
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=) rs146879902 0.00065
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063 0.00065
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_013382.7(POMT2):c.649G>A (p.Ala217Thr) rs144748043 0.00065
NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala) rs140286824 0.00065
NM_022436.3(ABCG5):c.510C>T (p.Ala170=) rs147061424 0.00065
NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg) rs143451766 0.00065
NM_206933.4(USH2A):c.11225A>G (p.Asn3742Ser) rs139921272 0.00065
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly) rs114116572 0.00065
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=) rs147560504 0.00065
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr) rs184868522 0.00064
NM_000059.4(BRCA2):c.7007+53G>A rs56014558 0.00064
NM_000070.3(CAPN3):c.525C>T (p.Asp175=) rs144383442 0.00064
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946 0.00064
NM_000295.5(SERPINA1):c.43C>T (p.Leu15=) rs147283849 0.00064
NM_000318.3(PEX2):c.269C>T (p.Ser90Phe) rs146354196 0.00064
NM_000334.4(SCN4A):c.3774+8G>A rs374806849 0.00064
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_000875.5(IGF1R):c.1784G>A (p.Arg595His) rs56248469 0.00064
NM_001015880.2(PAPSS2):c.1167C>T (p.Asp389=) rs145242127 0.00064
NM_001077525.3(MTMR14):c.780T>A (p.Asp260Glu) rs142525507 0.00064
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714 0.00064
NM_001183.6(ATP6AP1):c.43C>T (p.Arg15Trp) rs201620814 0.00064
NM_001256789.3(CACNA1F):c.3930C>A (p.Ile1310=) rs144131971 0.00064
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala) rs377289817 0.00064
NM_001267550.2(TTN):c.59316G>A (p.Pro19772=) rs377180286 0.00064
NM_001267550.2(TTN):c.74596A>G (p.Thr24866Ala) rs199784966 0.00064
NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp) rs73036377 0.00064
NM_001267550.2(TTN):c.96918C>T (p.Ile32306=) rs72648266 0.00064
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu) rs200266868 0.00064
NM_001379081.2(FREM1):c.3631C>T (p.Pro1211Ser) rs76714828 0.00064
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu) rs150669855 0.00064
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_003193.5(TBCE):c.1465C>A (p.Leu489Ile) rs143917509 0.00064
NM_003865.3(HESX1):c.385G>A (p.Val129Ile) rs143057250 0.00064
NM_004006.3(DMD):c.2199C>T (p.Ser733=) rs149882431 0.00064
NM_004260.4(RECQL4):c.3600G>A (p.Thr1200=) rs35225938 0.00064
NM_005957.5(MTHFR):c.1392C>T (p.Thr464=) rs79157191 0.00064
NM_006662.3(SRCAP):c.2573G>A (p.Arg858His) rs35892240 0.00064
NM_006662.3(SRCAP):c.4563T>A (p.Pro1521=) rs138541811 0.00064
NM_007126.5(VCP):c.1584C>T (p.Ala528=) rs147623367 0.00064
NM_012186.3(FOXE3):c.929G>A (p.Gly310Asp) rs571095192 0.00064
NM_012418.4(FSCN2):c.1274-3C>T rs201054437 0.00064
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) rs141033098 0.00064
NM_015102.5(NPHP4):c.1482G>A (p.Gln494=) rs199557439 0.00064
NM_016356.5(DCDC2):c.402G>A (p.Pro134=) rs142088541 0.00064
NM_032119.4(ADGRV1):c.2459A>G (p.Asn820Ser) rs144918959 0.00064
NM_032119.4(ADGRV1):c.2740T>C (p.Tyr914His) rs189967386 0.00064
NM_153676.4(USH1C):c.669C>A (p.Gly223=) rs144761543 0.00064
NM_182914.3(SYNE2):c.3506G>A (p.Arg1169His) rs200437377 0.00064
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln) rs117647282 0.00064
NM_194248.3(OTOF):c.3203G>A (p.Arg1068His) rs180748688 0.00064
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His) rs202170644 0.00064
NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln) rs370569372 0.00064
NM_201384.3(PLEC):c.5796G>A (p.Ala1932=) rs375568532 0.00064
NM_201384.3(PLEC):c.6536G>A (p.Arg2179Gln) rs117962829 0.00064
NM_000202.8(IDS):c.396G>A (p.Ser132=) rs147108245 0.00063
NM_000217.3(KCNA1):c.611G>A (p.Arg204His) rs2229000 0.00063
NM_000243.3(MEFV):c.932C>T (p.Ala311Val) rs74346519 0.00063
NM_000377.3(WAS):c.538C>A (p.His180Asn) rs145040665 0.00063
NM_000543.5(SMPD1):c.8G>A (p.Arg3His) rs199836262 0.00063
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=) rs200330469 0.00063
NM_000719.7(CACNA1C):c.5451C>T (p.His1817=) rs113239186 0.00063
NM_001004334.4(GPR179):c.2410C>T (p.Arg804Trp) rs201086495 0.00063
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 0.00063
NM_001035.3(RYR2):c.615C>T (p.Ala205=) rs112680790 0.00063
NM_001039876.3(SYNE4):c.277G>A (p.Glu93Lys) rs145204031 0.00063
NM_001039876.3(SYNE4):c.756G>A (p.Ala252=) rs137899688 0.00063
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658 0.00063
NM_001127649.3(PEX26):c.643G>A (p.Glu215Lys) rs138232280 0.00063
NM_001164508.2(NEB):c.6088C>T (p.Leu2030Phe) rs200251444 0.00063
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=) rs374780430 0.00063
NM_001199397.3(NEK1):c.2137G>A (p.Val713Met) rs199827465 0.00063
NM_001206979.2(NR1H4):c.18T>C (p.Asn6=) rs140648896 0.00063
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793 0.00063
NM_001267550.2(TTN):c.12401T>A (p.Ile4134Asn) rs112009206 0.00063
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) rs201412693 0.00063
NM_001267550.2(TTN):c.55659G>A (p.Val18553=) rs368450420 0.00063
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=) rs72646848 0.00063
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His) rs200317412 0.00063
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys) rs56341835 0.00063
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn) rs200450022 0.00063
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val) rs182549226 0.00063
NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys) rs144291418 0.00063
NM_001793.6(CDH3):c.1785C>T (p.Val595=) rs376302917 0.00063
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_003193.5(TBCE):c.100+6C>T rs182896657 0.00063
NM_004006.3(DMD):c.8308G>A (p.Asp2770Asn) rs138399787 0.00063
NM_005629.4(SLC6A8):c.777+4C>T rs201581661 0.00063
NM_006005.3(WFS1):c.1779G>C (p.Glu593Asp) rs144783536 0.00063
NM_006031.6(PCNT):c.7655G>A (p.Arg2552His) rs199589423 0.00063
NM_006516.4(SLC2A1):c.276-7T>C rs369273744 0.00063
NM_006662.3(SRCAP):c.5469T>C (p.Leu1823=) rs370111987 0.00063
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) rs138817389 0.00063
NM_014140.4(SMARCAL1):c.863-9C>G rs188833040 0.00063
NM_014141.6(CNTNAP2):c.2292C>T (p.His764=) rs143286960 0.00063
NM_014208.3(DSPP):c.1073G>A (p.Arg358Lys) rs201110163 0.00063
NM_015295.3(SMCHD1):c.306G>A (p.Ser102=) rs7229488 0.00063
NM_017668.3(NDE1):c.386+9G>A rs147174812 0.00063
NM_018100.4(EFHC1):c.64-5T>C rs201860746 0.00063
NM_022124.6(CDH23):c.1185C>T (p.Ser395=) rs185105210 0.00063
NM_022436.3(ABCG5):c.1251G>A (p.Gln417=) rs146801512 0.00063
NM_025074.7(FRAS1):c.969G>A (p.Val323=) rs377333036 0.00063
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln) rs142415050 0.00063
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp) rs147202164 0.00063
NM_133497.4(KCNV2):c.756G>A (p.Lys252=) rs138861317 0.00063
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg) rs144851946 0.00063
NM_182961.4(SYNE1):c.14769A>G (p.Glu4923=) rs141057568 0.00063
NM_201384.3(PLEC):c.10158G>A (p.Ala3386=) rs373820763 0.00063
NM_201384.3(PLEC):c.7098G>T (p.Arg2366=) rs79489944 0.00063
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333 0.00063
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238 0.00062
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114 0.00062
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=) rs61755813 0.00062
NM_000392.5(ABCC2):c.4071G>C (p.Gln1357His) rs148393425 0.00062
NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=) rs375534041 0.00062
NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg) rs200970855 0.00062
NM_001165963.4(SCN1A):c.2421C>T (p.Phe807=) rs145101180 0.00062
NM_001173467.3(SP7):c.1272G>A (p.Glu424=) rs182820275 0.00062
NM_001252024.2(TRPM1):c.507C>T (p.His169=) rs201157794 0.00062
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala) rs200118743 0.00062
NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr) rs373099440 0.00062
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val) rs200074974 0.00062
NM_001360016.2(G6PD):c.1245C>T (p.Pro415=) rs147131392 0.00062
NM_001457.4(FLNB):c.6843C>T (p.Ile2281=) rs140332932 0.00062
NM_002471.4(MYH6):c.5652C>T (p.Ala1884=) rs200662317 0.00062
NM_003049.4(SLC10A1):c.957G>A (p.Met319Ile) rs149272163 0.00062
NM_004006.3(DMD):c.1028G>A (p.Arg343His) rs61733589 0.00062
NM_005249.5(FOXG1):c.489C>T (p.Gly163=) rs375378714 0.00062
NM_005529.7(HSPG2):c.732A>G (p.Thr244=) rs139842104 0.00062
NM_005609.4(PYGM):c.1083C>T (p.Asp361=) rs141959242 0.00062
NM_006642.5(SDCCAG8):c.1409A>G (p.Glu470Gly) rs118064970 0.00062
NM_013382.7(POMT2):c.1701C>G (p.Pro567=) rs151051452 0.00062
NM_014795.4(ZEB2):c.2205T>C (p.Pro735=) rs149964599 0.00062
NM_016356.5(DCDC2):c.1423G>A (p.Val475Met) rs145154884 0.00062
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met) rs201032343 0.00062
NM_017950.4(CCDC40):c.2968G>A (p.Asp990Asn) rs200958035 0.00062
NM_021072.4(HCN1):c.1619-3T>C rs376434225 0.00062
NM_024301.5(FKRP):c.969C>T (p.Arg323=) rs532054402 0.00062
NM_030665.4(RAI1):c.1538A>G (p.Gln513Arg) rs147091667 0.00062
NM_031220.4(PITPNM3):c.2355G>A (p.Pro785=) rs146899730 0.00062
NM_032119.4(ADGRV1):c.1131T>G (p.Ser377=) rs200435877 0.00062
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) rs138452760 0.00062
NM_198525.3(KIF7):c.2237G>A (p.Arg746Gln) rs151317163 0.00062
NM_201384.3(PLEC):c.7951C>T (p.Arg2651Trp) rs145977158 0.00062
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073 0.00061
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr) rs151201155 0.00061
NM_000235.4(LIPA):c.889A>G (p.Ser297Gly) rs147426329 0.00061
NM_000283.4(PDE6B):c.2193+15C>T rs376883350 0.00061
NM_000393.5(COL5A2):c.3471+8A>T rs367643805 0.00061
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile) rs151325948 0.00061
NM_000875.5(IGF1R):c.2121C>T (p.Ala707=) rs34129005 0.00061
NM_001017995.3(SH3PXD2B):c.1602G>A (p.Gly534=) rs144228973 0.00061
NM_001032382.2(PQBP1):c.*6C>T rs181088115 0.00061
NM_001089.3(ABCA3):c.385G>A (p.Val129Met) rs137924161 0.00061
NM_001126121.2(SLC25A19):c.842T>G (p.Phe281Cys) rs138376525 0.00061
NM_001130438.3(SPTAN1):c.7161-9C>T rs187613754 0.00061
NM_001164508.2(NEB):c.20671C>T (p.Leu6891Phe) rs182866658 0.00061
NM_001244008.2(KIF1A):c.4749C>T (p.Ser1583=) rs371737085 0.00061
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala) rs55945684 0.00061
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg) rs190636272 0.00061
NM_001267550.2(TTN):c.17115C>T (p.Gly5705=) rs370036981 0.00061
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241 0.00061
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_001267550.2(TTN):c.39211+6C>T rs187365142 0.00061
NM_001267550.2(TTN):c.75738A>G (p.Glu25246=) rs371344165 0.00061
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala) rs200771189 0.00061
NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr) rs367949317 0.00061
NM_001330260.2(SCN8A):c.2371-6A>G rs187002252 0.00061
NM_001365088.1(SLC12A6):c.3249G>A (p.Arg1083=) rs149640638 0.00061
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile) rs149346064 0.00061
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782 0.00061
NM_001378615.1(CC2D2A):c.2774G>A (p.Arg925Gln) rs200707391 0.00061
NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg) rs201635205 0.00061
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu) rs117583120 0.00061
NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln) rs143848379 0.00061
NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=) rs147637674 0.00061
NM_002206.3(ITGA7):c.537G>A (p.Gly179=) rs145463677 0.00061
NM_002334.4(LRP4):c.570C>T (p.Pro190=) rs147353838 0.00061
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys) rs140512665 0.00061
NM_002693.3(POLG):c.1386G>A (p.Ser462=) rs62640034 0.00061
NM_002900.3(RBP3):c.126G>A (p.Pro42=) rs146175391 0.00061
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val) rs142851023 0.00061
NM_004463.3(FGD1):c.622T>C (p.Ser208Pro) rs148139633 0.00061
NM_005378.6(MYCN):c.8G>C (p.Ser3Thr) rs373683425 0.00061
NM_005562.3(LAMC2):c.1318A>G (p.Ile440Val) rs147889360 0.00061
NM_005957.5(MTHFR):c.1032-6A>G rs2066464 0.00061
NM_006371.5(CRTAP):c.641T>C (p.Val214Ala) rs146124454 0.00061
NM_006412.4(AGPAT2):c.269G>A (p.Arg90His) rs142176861 0.00061
NM_006662.3(SRCAP):c.7248C>T (p.Ser2416=) rs138152469 0.00061
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp) rs201503405 0.00061
NM_012470.4(TNPO3):c.2741C>T (p.Ala914Val) rs61756249 0.00061
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile) rs142299878 0.00061
NM_014026.6(DCPS):c.87G>T (p.Glu29Asp) rs147935593 0.00061
NM_014780.5(CUL7):c.2163T>C (p.Asp721=) rs145572983 0.00061
NM_015102.5(NPHP4):c.2259C>T (p.Asp753=) rs199628481 0.00061
NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=) rs374146357 0.00061
NM_016356.5(DCDC2):c.817C>T (p.Pro273Ser) rs146787541 0.00061
NM_017739.4(POMGNT1):c.453G>A (p.Thr151=) rs146121135 0.00061
NM_022455.5(NSD1):c.480C>T (p.Asp160=) rs79427433 0.00061
NM_031220.4(PITPNM3):c.216C>T (p.Asp72=) rs61755429 0.00061
NM_031220.4(PITPNM3):c.987G>A (p.Leu329=) rs148451236 0.00061
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe) rs200816323 0.00061
NM_057176.3(BSND):c.851G>A (p.Gly284Asp) rs150426464 0.00061
NM_080916.3(DGUOK):c.708-3T>C rs370071744 0.00061
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374 0.00061
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val) rs141622697 0.00061
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser) rs200204857 0.00061
NM_152564.5(VPS13B):c.11852T>C (p.Ile3951Thr) rs73273219 0.00061
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00061
NM_182961.4(SYNE1):c.21414C>T (p.Ala7138=) rs144904215 0.00061
NM_182961.4(SYNE1):c.22458T>G (p.Asn7486Lys) rs139466191 0.00061
NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp) rs144056525 0.00061
NM_201384.3(PLEC):c.3588C>T (p.Asp1196=) rs377059744 0.00061
NM_201384.3(PLEC):c.9049C>T (p.Arg3017Trp) rs201041716 0.00061
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917 0.00061
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150 0.00060
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser) rs189557655 0.00060
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00060
NM_000426.4(LAMA2):c.6629T>C (p.Val2210Ala) rs78880369 0.00060
NM_001110556.2(FLNA):c.3876C>T (p.His1292=) rs199917719 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_001369268.1(ACAN):c.1448G>A (p.Arg483His) rs200950723 0.00060
NM_001384732.1(CPLANE1):c.8462-1G>C rs151279194 0.00060
NM_001458.5(FLNC):c.1519G>A (p.Gly507Arg) rs189525930 0.00060
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile) rs58639322 0.00060
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=) rs139114389 0.00060
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg) rs143326964 0.00060
NM_005422.4(TECTA):c.2444C>T (p.Thr815Met) rs111759871 0.00060
NM_005506.4(SCARB2):c.424-4G>A rs368869126 0.00060
NM_012301.4(MAGI2):c.3706+5G>A rs188293910 0.00060
NM_015915.5(ATL1):c.1200G>A (p.Lys400=) rs144792471 0.00060
NM_017780.4(CHD7):c.2835+8T>C rs202141372 0.00060
NM_022437.3(ABCG8):c.576C>T (p.Ile192=) rs148058949 0.00060
NM_024301.5(FKRP):c.636G>A (p.Ala212=) rs370099812 0.00060
NM_024596.5(MCPH1):c.1480G>A (p.Ala494Thr) rs183880522 0.00060
NM_030665.4(RAI1):c.303C>T (p.Gly101=) rs143836684 0.00060
NM_030665.4(RAI1):c.4676G>A (p.Arg1559Gln) rs141317462 0.00060
NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr) rs200115167 0.00060
NM_032119.4(ADGRV1):c.4487A>G (p.Tyr1496Cys) rs376401006 0.00060
NM_032119.4(ADGRV1):c.9635T>C (p.Ile3212Thr) rs199833843 0.00060
NM_138694.4(PKHD1):c.3627G>A (p.Leu1209=) rs182216709 0.00060
NM_153676.4(USH1C):c.360C>T (p.Gly120=) rs140869579 0.00060
NM_172364.5(CACNA2D4):c.2649C>T (p.Cys883=) rs184770223 0.00060
NM_182961.4(SYNE1):c.5282A>G (p.Gln1761Arg) rs146244669 0.00060
NM_182961.4(SYNE1):c.5421+9G>T rs376218204 0.00060
NM_000059.4(BRCA2):c.4071A>C (p.Leu1357=) rs140556653 0.00059
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp) rs142509759 0.00059
NM_000392.5(ABCC2):c.3561G>A (p.Glu1187=) rs17216324 0.00059
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076 0.00059
NM_000445.5(PLEC):c.133G>A (p.Gly45Ser) rs201820569 0.00059
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492 0.00059
NM_001044.5(SLC6A3):c.1676C>T (p.Ala559Val) rs28364997 0.00059
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517 0.00059
NM_001128178.3(NPHP1):c.1419A>G (p.Ile473Met) rs147945403 0.00059
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp) rs146970014 0.00059
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) rs77705198 0.00059
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) rs199690076 0.00059
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) rs199506676 0.00059
NM_001267550.2(TTN):c.77205G>A (p.Val25735=) rs55857909 0.00059
NM_001267550.2(TTN):c.78147A>G (p.Gln26049=) rs149127072 0.00059
NM_001267550.2(TTN):c.82797C>T (p.Gly27599=) rs72648216 0.00059
NM_001319074.4(RAX2):c.156G>A (p.Pro52=) rs141804618 0.00059
NM_001330078.2(NRXN1):c.105C>A (p.Gly35=) rs55640811 0.00059
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=) rs200682458 0.00059
NM_001374353.1(GLI2):c.4577G>A (p.Arg1526His) rs138987487 0.00059
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=) rs202150325 0.00059
NM_001384910.1(GUCA1A):c.600C>T (p.Ala200=) rs149482975 0.00059
NM_001849.4(COL6A2):c.2610C>T (p.Asp870=) rs116817879 0.00059
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00059
NM_001966.4(EHHADH):c.1006G>A (p.Ala336Thr) rs146431168 0.00059
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222 0.00059
NM_014112.5(TRPS1):c.3328C>T (p.Leu1110Phe) rs148023627 0.00059
NM_014425.5(INVS):c.2313T>C (p.Asp771=) rs147112151 0.00059
NM_020779.4(WDR35):c.1227A>G (p.Thr409=) rs148828104 0.00059
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys) rs199587998 0.00059
NM_133379.5(TTN):c.10920T>C (p.Ser3640=) rs142585268 0.00059
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=) rs150905950 0.00059
NM_183357.3(ADCY5):c.3336C>T (p.Ser1112=) rs141922371 0.00059
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=) rs140263823 0.00058
NM_000035.4(ALDOB):c.525C>T (p.Ala175=) rs144196914 0.00058
NM_000093.5(COL5A1):c.996C>T (p.Asp332=) rs144763302 0.00058
NM_000157.4(GBA1):c.1497G>C (p.Val499=) rs1135675 0.00058
NM_000182.5(HADHA):c.1212G>C (p.Val404=) rs116396996 0.00058
NM_000208.4(INSR):c.2295C>T (p.Gly765=) rs142654992 0.00058
NM_000231.3(SGCG):c.58A>G (p.Asn20Asp) rs763248287 0.00058
NM_000257.4(MYH7):c.2514G>A (p.Pro838=) rs45560638 0.00058
NM_000373.4(UMPS):c.126C>A (p.Gly42=) rs143828400 0.00058
NM_000492.4(CFTR):c.3717+45G>A rs145743767 0.00058
NM_000531.6(OTC):c.298+5G>C rs72554348 0.00058
NM_000540.3(RYR1):c.2682+7G>A rs201498416 0.00058
NM_000552.5(VWF):c.1329C>T (p.Ser443=) rs142404899 0.00058
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp) rs138682847 0.00058
NM_000748.3(CHRNB2):c.1482A>G (p.Ser494=) rs8192486 0.00058
NM_001004127.3(ALG11):c.802C>A (p.Leu268Ile) rs148434423 0.00058
NM_001017420.3(ESCO2):c.929A>T (p.Glu310Val) rs145734811 0.00058
NM_001039141.3(TRIOBP):c.6771G>A (p.Gln2257=) rs200793989 0.00058
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=) rs377440297 0.00058
NM_001079.4(ZAP70):c.1025T>C (p.Ile342Thr) rs142702703 0.00058
NM_001159773.2(CANT1):c.966C>T (p.Ser322=) rs140989921 0.00058
NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys) rs145300090 0.00058
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431 0.00058
NM_001252024.2(TRPM1):c.4499C>T (p.Thr1500Met) rs201617759 0.00058
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile) rs200103997 0.00058
NM_001267550.2(TTN):c.25481G>A (p.Arg8494Gln) rs201418615 0.00058
NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser) rs183844833 0.00058
NM_001330260.2(SCN8A):c.3204C>T (p.Ser1068=) rs201045619 0.00058
NM_001367624.2(ZNF469):c.1088C>T (p.Ser363Leu) rs771000169 0.00058
NM_001927.4(DES):c.656C>T (p.Thr219Ile) rs144901249 0.00058
NM_001966.4(EHHADH):c.1068C>T (p.His356=) rs142166617 0.00058
NM_002334.4(LRP4):c.1194A>G (p.Glu398=) rs138589242 0.00058
NM_002617.4(PEX10):c.896C>T (p.Ala299Val) rs78620392 0.00058
NM_002618.4(PEX13):c.325C>T (p.Arg109Cys) rs143972531 0.00058
NM_002764.4(PRPS1):c.942C>T (p.Ser314=) rs147731055 0.00058
NM_002968.3(SALL1):c.1903C>T (p.Pro635Ser) rs61731136 0.00058
NM_002968.3(SALL1):c.809C>T (p.Pro270Leu) rs140827311 0.00058
NM_005220.3(DLX3):c.82G>T (p.Asp28Tyr) rs147702169 0.00058
NM_005989.4(AKR1D1):c.49A>G (p.Ser17Gly) rs143960528 0.00058
NM_006031.6(PCNT):c.3549C>T (p.Ile1183=) rs139383288 0.00058
NM_006493.4(CLN5):c.459G>A (p.Met153Ile) rs144656959 0.00058
NM_006950.3(SYN1):c.1615G>A (p.Gly539Ser) rs794727076 0.00058
NM_012254.3(SLC27A5):c.743G>A (p.Arg248His) rs138318343 0.00058
NM_014425.5(INVS):c.2386C>G (p.Gln796Glu) rs147731667 0.00058
NM_014491.4(FOXP2):c.1843G>A (p.Ala615Thr) rs182138317 0.00058
NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val) rs200930743 0.00058
NM_022455.5(NSD1):c.3389A>G (p.Glu1130Gly) rs113856002 0.00058
NM_024408.4(NOTCH2):c.423G>A (p.Glu141=) rs149906722 0.00058
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro) rs149522412 0.00058
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu) rs138434761 0.00058
NM_025184.4(EFHC2):c.404G>A (p.Arg135Gln) rs201560745 0.00058
NM_133259.4(LRPPRC):c.1678A>T (p.Ile560Leu) rs144826521 0.00058
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) rs201432731 0.00058
NM_145207.3(AFG2A):c.1964G>A (p.Arg655Gln) rs147873489 0.00058
NM_173477.5(USH1G):c.1340G>A (p.Arg447Gln) rs201359669 0.00058
NM_182914.3(SYNE2):c.10494A>G (p.Thr3498=) rs201000414 0.00058
NM_182961.4(SYNE1):c.1391A>G (p.His464Arg) rs141397112 0.00058
NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val) rs143093185 0.00058
NM_182961.4(SYNE1):c.5807A>G (p.His1936Arg) rs112744561 0.00058
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785 0.00058
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His) rs144797861 0.00057
NM_000092.5(COL4A4):c.4185G>A (p.Gly1395=) rs55978207 0.00057
NM_000141.5(FGFR2):c.759T>G (p.Pro253=) rs3135755 0.00057
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr) rs145712232 0.00057
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093 0.00057
NM_000180.4(GUCY2D):c.1537C>T (p.Leu513Phe) rs61749682 0.00057
NM_000392.5(ABCC2):c.3521G>A (p.Arg1174His) rs139188247 0.00057
NM_000460.4(THPO):c.639T>A (p.Thr213=) rs1042348 0.00057
NM_000540.3(RYR1):c.2091C>T (p.Ala697=) rs138704724 0.00057
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu) rs45482691 0.00057
NM_001080.3(ALDH5A1):c.183C>G (p.Thr61=) rs776791710 0.00057
NM_001110556.2(FLNA):c.7756+8A>G rs201663443 0.00057
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=) rs374749004 0.00057
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala) rs199793367 0.00057
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) rs147056383 0.00057
NM_001170629.2(CHD8):c.1407T>C (p.Ile469=) rs190978463 0.00057
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met) rs192001910 0.00057
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_001267550.2(TTN):c.49357C>A (p.Pro16453Thr) rs200121902 0.00057
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys) rs191482653 0.00057
NM_001330078.2(NRXN1):c.24C>T (p.Arg8=) rs200113281 0.00057
NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His) rs150093365 0.00057
NM_001458.5(FLNC):c.2390-8C>G rs146063718 0.00057
NM_001848.3(COL6A1):c.993C>T (p.Asp331=) rs373948031 0.00057
NM_001849.4(COL6A2):c.1437T>C (p.Ala479=) rs149077114 0.00057
NM_003482.4(KMT2D):c.1965C>A (p.Pro655=) rs200939188 0.00057
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_005045.4(RELN):c.5961G>T (p.Lys1987Asn) rs143948239 0.00057
NM_012254.3(SLC27A5):c.1338G>A (p.Gly446=) rs148459550 0.00057
NM_022124.6(CDH23):c.3927G>A (p.Glu1309=) rs115398922 0.00057
NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr) rs138613460 0.00057
NM_024301.5(FKRP):c.531G>A (p.Glu177=) rs768007208 0.00057
NM_030665.4(RAI1):c.3318C>A (p.Ala1106=) rs34206150 0.00057
NM_030665.4(RAI1):c.5253C>T (p.Ala1751=) rs34383407 0.00057
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys) rs116164106 0.00057
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile) rs149111536 0.00057
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala) rs117461489 0.00057
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) rs138828590 0.00056
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227 0.00056
NM_000059.4(BRCA2):c.2145A>G (p.Gly715=) rs112566179 0.00056
NM_000152.5(GAA):c.1438-9G>A rs202211401 0.00056
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) rs139850074 0.00056
NM_000327.4(ROM1):c.940G>A (p.Gly314Arg) rs141919268 0.00056
NM_000392.5(ABCC2):c.2613A>G (p.Glu871=) rs76302654 0.00056
NM_000410.4(HFE):c.884T>C (p.Val295Ala) rs143175221 0.00056
NM_000426.4(LAMA2):c.7300+10T>A rs200469923 0.00056
NM_000492.4(CFTR):c.*2G>A rs150914702 0.00056
NM_000492.4(CFTR):c.2245C>T (p.Leu749=) rs151235408 0.00056
NM_000702.4(ATP1A2):c.836G>A (p.Arg279Gln) rs373178892 0.00056
NM_001267550.2(TTN):c.58155C>A (p.Pro19385=) rs373587801 0.00056
NM_001267550.2(TTN):c.71841G>C (p.Lys23947Asn) rs56019808 0.00056
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) rs149707354 0.00056
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) rs199692186 0.00056
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=) rs371086728 0.00056
NM_001457.4(FLNB):c.4040A>G (p.Asn1347Ser) rs146093652 0.00056
NM_001605.3(AARS1):c.600C>T (p.Ala200=) rs150080663 0.00056
NM_001844.5(COL2A1):c.195C>T (p.Asp65=) rs202210896 0.00056
NM_002474.3(MYH11):c.2649G>A (p.Ser883=) rs150943863 0.00056
NM_002693.3(POLG):c.1275C>T (p.Ala425=) rs147404477 0.00056
NM_002693.3(POLG):c.678G>C (p.Gln226His) rs147282197 0.00056
NM_002693.3(POLG):c.798G>T (p.Val266=) rs143631183 0.00056
NM_003193.5(TBCE):c.833+8G>T rs372236046 0.00056
NM_004006.3(DMD):c.8436T>C (p.Leu2812=) rs139365076 0.00056
NM_004820.5(CYP7B1):c.94G>T (p.Ala32Ser) rs181854355 0.00056
NM_005045.4(RELN):c.3147-4A>G rs375230548 0.00056
NM_005477.3(HCN4):c.2739G>A (p.Ala913=) rs373411041 0.00056
NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr) rs143109401 0.00056
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp) rs117173425 0.00056
NM_015915.5(ATL1):c.631-7T>A rs186528086 0.00056
NM_018136.5(ASPM):c.9676T>G (p.Cys3226Gly) rs142901223 0.00056
NM_018451.5(CPAP):c.2462C>T (p.Thr821Met) rs144938364 0.00056
NM_020436.5(SALL4):c.2041G>A (p.Ala681Thr) rs147385529 0.00056
NM_024408.4(NOTCH2):c.6766C>T (p.Arg2256Cys) rs147522485 0.00056
NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val) rs201963060 0.00056
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr) rs139486133 0.00056
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val) rs147612089 0.00056
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838 0.00056
NM_170699.3(GPBAR1):c.329G>A (p.Arg110His) rs186702546 0.00056
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=) rs144105769 0.00056
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=) rs139070088 0.00056
NM_198525.3(KIF7):c.3264C>T (p.Leu1088=) rs138764398 0.00056
NM_201384.3(PLEC):c.13509C>T (p.Arg4503=) rs190789703 0.00056
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275 0.00056
NM_206933.4(USH2A):c.4758+3A>G rs117798425 0.00056
NM_000152.5(GAA):c.858+8G>A rs5822325 0.00055
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00055
NM_000452.3(SLC10A2):c.175C>T (p.Leu59=) rs150970825 0.00055
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) rs144825021 0.00055
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys) rs142348542 0.00055
NM_000843.4(GRM6):c.1571C>T (p.Pro524Leu) rs143491269 0.00055
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=) rs143475751 0.00055
NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile) rs143895253 0.00055
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) rs146664754 0.00055
NM_001267550.2(TTN):c.44548+9A>G rs372725070 0.00055
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00055
NM_001267550.2(TTN):c.62432A>G (p.Asp20811Gly) rs72646849 0.00055
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys) rs72646859 0.00055
NM_001291867.2(NHS):c.4666T>A (p.Ser1556Thr) rs2071848 0.00055
NM_001297.5(CNGB1):c.2370-9C>T rs374373659 0.00055
NM_001304438.2(TMEM132E):c.2655A>C (p.Thr885=) rs146702736 0.00055
NM_001374385.1(ATP8B1):c.114T>G (p.Ser38=) rs141463153 0.00055
NM_001377299.1(NDUFS2):c.1138C>G (p.His380Asp) rs144411579 0.00055
NM_001614.5(ACTG1):c.228C>T (p.Val76=) rs143028649 0.00055
NM_005027.4(PIK3R2):c.817A>T (p.Ser273Cys) rs147990742 0.00055
NM_006294.5(UQCRB):c.200T>A (p.Leu67Gln) rs139283183 0.00055
NM_014208.3(DSPP):c.768C>T (p.Asp256=) rs374400491 0.00055
NM_014639.4(SKIC3):c.3341+9A>G rs376170264 0.00055
NM_015404.4(WHRN):c.1455G>A (p.Pro485=) rs141807746 0.00055
NM_022124.6(CDH23):c.1752+6G>A rs369013539 0.00055
NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp) rs2229790 0.00055
NM_181303.2(NLGN3):c.603C>G (p.Pro201=) rs35794236 0.00055
NM_182914.3(SYNE2):c.10392C>T (p.Cys3464=) rs373646325 0.00055
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val) rs150637898 0.00055
NM_194318.4(B3GLCT):c.288C>T (p.Leu96=) rs9542305 0.00055
NM_201384.3(PLEC):c.11594G>A (p.Arg3865His) rs200722246 0.00055
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_000089.4(COL1A2):c.3613C>T (p.Arg1205Trp) rs150124840 0.00054
NM_000195.5(HPS1):c.1438G>A (p.Ala480Thr) rs17109853 0.00054
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372 0.00054
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) rs143218168 0.00054
NM_000288.4(PEX7):c.418-4G>T rs199552223 0.00054
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178 0.00054
NM_000553.6(WRN):c.3453G>A (p.Glu1151=) rs144116311 0.00054
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_001177316.2(SLC34A3):c.1464T>C (p.Ala488=) rs144666114 0.00054
NM_001256317.3(TMPRSS3):c.412G>A (p.Ala138Thr) rs140614903 0.00054
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val) rs148140756 0.00054
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855 0.00054
NM_001353921.2(ARHGEF9):c.1113C>T (p.Gly371=) rs56375542 0.00054
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=) rs144562471 0.00054
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363 0.00054
NM_001701.4(BAAT):c.341T>A (p.Val114Glu) rs143561437 0.00054
NM_001943.5(DSG2):c.*2C>T rs183494886 0.00054
NM_002473.6(MYH9):c.1566G>A (p.Pro522=) rs145517108 0.00054
NM_003049.4(SLC10A1):c.393T>G (p.Leu131=) rs61744165 0.00054
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser) rs11568367 0.00054
NM_003977.4(AIP):c.382C>T (p.Arg128Cys) rs140530307 0.00054
NM_004006.3(DMD):c.3020C>T (p.Ser1007Leu) rs144732570 0.00054
NM_004380.3(CREBBP):c.2850G>A (p.Thr950=) rs141651423 0.00054
NM_004820.5(CYP7B1):c.530C>T (p.Thr177Met) rs145152682 0.00054
NM_005045.4(RELN):c.6939T>C (p.Ile2313=) rs113498433 0.00054
NM_005506.4(SCARB2):c.486C>T (p.Ala162=) rs143518519 0.00054
NM_006078.5(CACNG2):c.640G>A (p.Ala214Thr) rs139052540 0.00054
NM_006949.4(STXBP2):c.1569G>A (p.Lys523=) rs148868283 0.00054
NM_007078.3(LDB3):c.1036G>A (p.Ala346Thr) rs201968775 0.00054
NM_012188.5(FOXI1):c.825C>T (p.Ala275=) rs147596900 0.00054
NM_014008.5(CCDC22):c.962G>A (p.Arg321Gln) rs140735182 0.00054
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449 0.00054
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_032119.4(ADGRV1):c.17528A>G (p.Tyr5843Cys) rs147011199 0.00054
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp) rs141430703 0.00054
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His) rs149163661 0.00054
NM_170699.3(GPBAR1):c.903G>A (p.Gly301=) rs200857397 0.00054
NM_181486.4(TBX5):c.55G>T (p.Ala19Ser) rs200461617 0.00054
NM_182914.3(SYNE2):c.15848A>G (p.Asp5283Gly) rs138797058 0.00054
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile) rs139170018 0.00054
NM_182961.4(SYNE1):c.1730-7G>A rs367603152 0.00054
NM_201384.3(PLEC):c.6426C>T (p.Ala2142=) rs200062782 0.00054
NM_206933.4(USH2A):c.13343A>G (p.Asp4448Gly) rs150532013 0.00054
NM_206933.4(USH2A):c.7301-6C>T rs375499259 0.00054
NM_000036.3(AMPD1):c.1570T>A (p.Ser524Thr) rs140181682 0.00053
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_000350.3(ABCA4):c.3468C>T (p.Tyr1156=) rs113698006 0.00053
NM_000390.4(CHM):c.1244+8T>A rs369829791 0.00053
NM_000417.3(IL2RA):c.711A>G (p.Thr237=) rs11256354 0.00053
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
NM_000501.4(ELN):c.470-10C>G rs200663056 0.00053
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183 0.00053
NM_001038603.3(MARVELD2):c.176C>T (p.Pro59Leu) rs150434290 0.00053
NM_001039141.3(TRIOBP):c.3219G>A (p.Ala1073=) rs374759271 0.00053
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile) rs144722432 0.00053
NM_001177316.2(SLC34A3):c.321C>T (p.Asp107=) rs114286327 0.00053
NM_001267550.2(TTN):c.102657T>A (p.Ser34219Arg) rs370077023 0.00053
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys) rs189127014 0.00053
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr) rs78814506 0.00053
NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu) rs145005596 0.00053
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894 0.00053
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln) rs137964936 0.00053
NM_001378414.1(HDAC4):c.3174C>T (p.Ala1058=) rs142279745 0.00053
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465 0.00053
NM_001614.5(ACTG1):c.1017G>C (p.Val339=) rs111305526 0.00053
NM_001793.6(CDH3):c.1443C>T (p.Asp481=) rs144403828 0.00053
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser) rs140985224 0.00053
NM_003482.4(KMT2D):c.15797G>A (p.Arg5266His) rs201481646 0.00053
NM_003482.4(KMT2D):c.6354C>T (p.Pro2118=) rs377392943 0.00053
NM_003482.4(KMT2D):c.9385C>T (p.Pro3129Ser) rs200089754 0.00053
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile) rs142004123 0.00053
NM_006009.4(TUBA1A):c.4-7C>T rs560491477 0.00053
NM_006019.4(TCIRG1):c.2397C>T (p.His799=) rs141356870 0.00053
NM_006922.4(SCN3A):c.1381-4A>G rs199597878 0.00053
NM_012210.4(TRIM32):c.*1G>A rs142781513 0.00053
NM_012254.3(SLC27A5):c.1668-10C>T rs375785125 0.00053
NM_014874.4(MFN2):c.756C>T (p.Asn252=) rs137960129 0.00053
NM_015294.6(TRIM37):c.2240A>G (p.Asn747Ser) rs143613788 0.00053
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp) rs146655362 0.00053
NM_016156.6(MTMR2):c.1336G>A (p.Glu446Lys) rs146572467 0.00053
NM_018451.5(CPAP):c.763A>G (p.Thr255Ala) rs150932292 0.00053
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=) rs138986228 0.00053
NM_022124.6(CDH23):c.1446C>A (p.Val482=) rs200324241 0.00053
NM_022124.6(CDH23):c.5505G>A (p.Met1835Ile) rs200786014 0.00053
NM_022124.6(CDH23):c.9077+7C>T rs76114420 0.00053
NM_025074.7(FRAS1):c.11306A>G (p.Asn3769Ser) rs112039037 0.00053
NM_030665.4(RAI1):c.4438A>G (p.Arg1480Gly) rs139684843 0.00053
NM_032119.4(ADGRV1):c.11761G>A (p.Ala3921Thr) rs200576500 0.00053
NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala) rs201890097 0.00053
NM_032382.5(COG8):c.1682C>T (p.Thr561Met) rs143411142 0.00053
NM_133379.5(TTN):c.14812A>G (p.Met4938Val) rs145581345 0.00053
NM_133497.4(KCNV2):c.957G>A (p.Leu319=) rs141378856 0.00053
NM_138694.4(PKHD1):c.4871G>A (p.Arg1624Gln) rs190396031 0.00053
NM_147196.3(TMIE):c.219G>A (p.Thr73=) rs202208051 0.00053
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_170784.3(MKKS):c.*10A>G rs144934812 0.00053
NM_181303.2(NLGN3):c.594T>C (p.Gly198=) rs144247281 0.00053
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe) rs61753526 0.00053
NM_201384.3(PLEC):c.8040C>T (p.Asp2680=) rs373341589 0.00053
NM_201548.5(CERKL):c.589G>T (p.Ala197Ser) rs151110889 0.00053
NM_000426.4(LAMA2):c.1645C>T (p.Pro549Ser) rs139070796 0.00052
NM_000426.4(LAMA2):c.3014A>G (p.Asn1005Ser) rs139244736 0.00052
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=) rs140936904 0.00052
NM_000553.6(WRN):c.3422C>T (p.Ser1141Leu) rs139323683 0.00052
NM_000875.5(IGF1R):c.3187-5C>T rs45495500 0.00052
NM_001145026.2(PTPRQ):c.1359+2T>C rs377572771 0.00052
NM_001170629.2(CHD8):c.7620C>T (p.Asp2540=) rs367905297 0.00052
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) rs762918371 0.00052
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu) rs201035511 0.00052
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) rs376810671 0.00052
NM_001353214.3(DYM):c.2172C>T (p.Asp724=) rs201928717 0.00052
NM_001374385.1(ATP8B1):c.2358G>A (p.Val786=) rs33965008 0.00052
NM_001379081.2(FREM1):c.541C>T (p.Arg181Trp) rs200482899 0.00052
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu) rs11568361 0.00052
NM_004817.4(TJP2):c.981C>A (p.Ile327=) rs147139671 0.00052
NM_004999.4(MYO6):c.1546+6T>C rs199999513 0.00052
NM_006031.6(PCNT):c.5855C>T (p.Ala1952Val) rs370664761 0.00052
NM_007126.5(VCP):c.*4G>T rs201091341 0.00052
NM_014251.3(SLC25A13):c.1618C>T (p.Pro540Ser) rs75622628 0.00052
NM_014319.5(LEMD3):c.292C>T (p.Leu98Phe) rs571742271 0.00052
NM_014795.4(ZEB2):c.1306A>G (p.Met436Val) rs145812868 0.00052
NM_016729.3(FOLR1):c.321C>T (p.Tyr107=) rs145674759 0.00052
NM_017777.4(MKS1):c.874A>G (p.Lys292Glu) rs201845569 0.00052
NM_022436.3(ABCG5):c.1806C>T (p.Phe602=) rs150716811 0.00052
NM_022455.5(NSD1):c.3000C>T (p.Ser1000=) rs150854966 0.00052
NM_022464.5(SIL1):c.573G>A (p.Lys191=) rs148927511 0.00052
NM_024408.4(NOTCH2):c.1541A>G (p.Asn514Ser) rs34308573 0.00052
NM_024408.4(NOTCH2):c.1567+8C>T rs372367275 0.00052
NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=) rs151098305 0.00052
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=) rs148335285 0.00052
NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys) rs140005424 0.00052
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=) rs147508177 0.00052
NM_201384.3(PLEC):c.5521G>A (p.Ala1841Thr) rs201657125 0.00052
NM_207361.6(FREM2):c.2133G>A (p.Met711Ile) rs115446826 0.00052
NM_000070.3(CAPN3):c.1746-7C>G rs199978708 0.00051
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_000372.5(TYR):c.504C>T (p.Asn168=) rs148813091 0.00051
NM_000381.4(MID1):c.1489C>T (p.Leu497=) rs138629923 0.00051
NM_000392.5(ABCC2):c.736A>C (p.Met246Leu) rs17222744 0.00051
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr) rs200102493 0.00051
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00051
NM_001077446.4(TSEN34):c.394G>A (p.Gly132Arg) rs201506921 0.00051
NM_001083961.2(WDR62):c.477G>A (p.Ala159=) rs146485488 0.00051
NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser) rs397516621 0.00051
NM_001197104.2(KMT2A):c.10715T>G (p.Ile3572Ser) rs147014136 0.00051
NM_001199799.2(ILDR1):c.379+10G>C rs200883040 0.00051
NM_001267550.2(TTN):c.21404-4A>G rs72648965 0.00051
NM_001267550.2(TTN):c.23378-10C>A rs72648975 0.00051
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580 0.00051
NM_001267550.2(TTN):c.33827-8C>T rs371318311 0.00051
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His) rs201388509 0.00051
NM_001267550.2(TTN):c.55079C>T (p.Pro18360Leu) rs192788942 0.00051
NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly) rs56391938 0.00051
NM_001267550.2(TTN):c.87611C>G (p.Thr29204Arg) rs72648228 0.00051
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) rs180975448 0.00051
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=) rs201727684 0.00051
NM_001330260.2(SCN8A):c.1677C>T (p.His559=) rs202212399 0.00051
NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp) rs104895427 0.00051
NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val) rs188891842 0.00051
NM_001378615.1(CC2D2A):c.4648C>T (p.Leu1550=) rs199861496 0.00051
NM_001844.5(COL2A1):c.1176C>T (p.Arg392=) rs201575114 0.00051
NM_001848.3(COL6A1):c.1350G>A (p.Pro450=) rs144887329 0.00051
NM_001849.4(COL6A2):c.2182G>A (p.Val728Met) rs200585528 0.00051
NM_003361.4(UMOD):c.1406C>T (p.Thr469Met) rs143583842 0.00051
NM_003482.4(KMT2D):c.7301C>A (p.Ala2434Asp) rs201114196 0.00051
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) rs146906267 0.00051
NM_004187.5(KDM5C):c.4637G>A (p.Arg1546Gln) rs139569882 0.00051
NM_004369.4(COL6A3):c.5619C>T (p.His1873=) rs146355600 0.00051
NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr) rs148781922 0.00051
NM_004393.6(DAG1):c.1212G>A (p.Thr404=) rs139781017 0.00051
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_006180.6(NTRK2):c.31G>T (p.Ala11Ser) rs78936193 0.00051
NM_006306.4(SMC1A):c.3591C>T (p.Ala1197=) rs146216425 0.00051
NM_006662.3(SRCAP):c.8531G>C (p.Gly2844Ala) rs143277114 0.00051
NM_006946.4(SPTBN2):c.24A>G (p.Thr8=) rs141277535 0.00051
NM_012210.4(TRIM32):c.276C>T (p.Ser92=) rs140589523 0.00051
NM_012301.4(MAGI2):c.2616C>T (p.Asn872=) rs148005928 0.00051
NM_014014.5(SNRNP200):c.4935G>A (p.Val1645=) rs375650263 0.00051
NM_014920.5(CILK1):c.1702A>G (p.Met568Val) rs145842629 0.00051
NM_015922.3(NSDHL):c.65C>T (p.Thr22Ile) rs375100066 0.00051
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr) rs201878539 0.00051
NM_016239.4(MYO15A):c.877G>A (p.Asp293Asn) rs201415651 0.00051
NM_016929.5(CLIC5):c.253G>A (p.Val85Ile) rs199808624 0.00051
NM_018055.5(NODAL):c.904C>T (p.Arg302Cys) rs150819707 0.00051
NM_020779.4(WDR35):c.1072G>A (p.Val358Ile) rs151227688 0.00051
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val) rs56217500 0.00051
NM_022437.3(ABCG8):c.1416C>T (p.Tyr472=) rs144399404 0.00051
NM_022437.3(ABCG8):c.1839T>C (p.Tyr613=) rs147582834 0.00051
NM_025074.7(FRAS1):c.3010+9G>A rs148841455 0.00051
NM_032119.4(ADGRV1):c.684T>C (p.Asn228=) rs181889432 0.00051
NM_032382.5(COG8):c.1017C>T (p.Gly339=) rs72795277 0.00051
NM_033100.4(CDHR1):c.2176C>T (p.Arg726Cys) rs141706561 0.00051
NM_133259.4(LRPPRC):c.74G>A (p.Arg25His) rs780400922 0.00051
NM_144599.5(NIPA1):c.312G>A (p.Pro104=) rs139372534 0.00051
NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs) rs745711489 0.00051
NM_182914.3(SYNE2):c.16591C>A (p.Pro5531Thr) rs145036293 0.00051
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly) rs142985368 0.00051
NM_201384.3(PLEC):c.10302C>A (p.Thr3434=) rs199879193 0.00051
NM_201384.3(PLEC):c.540C>T (p.Cys180=) rs189256993 0.00051
NM_000214.3(JAG1):c.1389C>T (p.Ser463=) rs147229008 0.00050
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368 0.00050
NM_001077365.2(POMT1):c.42C>T (p.Asp14=) rs150937126 0.00050
NM_001122769.3(LCA5):c.1215T>G (p.Val405=) rs41270545 0.00050
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493 0.00050
NM_001146079.2(CLDN14):c.690C>T (p.His230=) rs149733854 0.00050
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=) rs200825430 0.00050
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala) rs144814689 0.00050
NM_002335.4(LRP5):c.1032G>C (p.Leu344=) rs143499301 0.00050
NM_003742.4(ABCB11):c.2927A>G (p.Gln976Arg) rs199940188 0.00050
NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile) rs141259390 0.00050
NM_004369.4(COL6A3):c.9494-10C>T rs184617787 0.00050
NM_004700.4(KCNQ4):c.708+9T>A rs191389529 0.00050
NM_005045.4(RELN):c.1386C>T (p.Cys462=) rs139321058 0.00050
NM_005529.7(HSPG2):c.7337C>T (p.Ser2446Leu) rs146950983 0.00050
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala) rs144840779 0.00050
NM_006493.4(CLN5):c.5C>T (p.Ala2Val) rs146993892 0.00050
NM_012254.3(SLC27A5):c.1710G>A (p.Val570=) rs141574728 0.00050
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) rs200699325 0.00050
NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn) rs191602135 0.00050
NM_022089.4(ATP13A2):c.2331C>T (p.His777=) rs144708504 0.00050
NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn) rs144047610 0.00050
NM_032119.4(ADGRV1):c.13654-7C>T rs373551551 0.00050
NM_133497.4(KCNV2):c.48G>C (p.Trp16Cys) rs146685593 0.00050
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met) rs150783688 0.00050
NM_182961.4(SYNE1):c.17542-7G>A rs199762799 0.00050
NM_201384.3(PLEC):c.3354G>A (p.Val1118=) rs375657597 0.00050
NM_000023.4(SGCA):c.690G>C (p.Leu230=) rs139454982 0.00049
NM_000231.3(SGCG):c.832G>A (p.Gly278Ser) rs147820869 0.00049
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys) rs199810429 0.00049
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_000327.4(ROM1):c.342C>T (p.Leu114=) rs537377404 0.00049
NM_000428.3(LTBP2):c.1686+3G>A rs190814774 0.00049
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His) rs2303603 0.00049
NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr) rs199847072 0.00049
NM_001191061.2(SLC25A22):c.327G>A (p.Ala109=) rs141975755 0.00049
NM_001267550.2(TTN):c.31806C>T (p.Pro10602=) rs370080995 0.00049
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00049
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile) rs200650668 0.00049
NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu) rs369440319 0.00049
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) rs147415641 0.00049
NM_001330260.2(SCN8A):c.4155A>C (p.Thr1385=) rs144424662 0.00049
NM_001378120.1(MBD5):c.4629A>G (p.Gln1543=) rs115145637 0.00049
NM_001966.4(EHHADH):c.78G>A (p.Thr26=) rs150381945 0.00049
NM_004239.4(TRIP11):c.4620T>C (p.Val1540=) rs72705400 0.00049
NM_004380.3(CREBBP):c.2950A>T (p.Asn984Tyr) rs140406003 0.00049
NM_004407.4(DMP1):c.1107C>T (p.Asp369=) rs147451774 0.00049
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881 0.00049
NM_006214.4(PHYH):c.678+5G>T rs201499815 0.00049
NM_006445.4(PRPF8):c.6792G>A (p.Ser2264=) rs369391284 0.00049
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu) rs45487699 0.00049
NM_016239.4(MYO15A):c.9322G>A (p.Val3108Ile) rs201734915 0.00049
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys) rs140154015 0.00049
NM_017739.4(POMGNT1):c.421-7C>A rs189274856 0.00049
NM_018136.5(ASPM):c.8068C>T (p.Arg2690Trp) rs41302133 0.00049
NM_018668.5(VPS33B):c.1362C>T (p.Ala454=) rs142964161 0.00049
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=) rs182990046 0.00049
NM_033337.3(CAV3):c.276C>T (p.Phe92=) rs72546669 0.00049
NM_033337.3(CAV3):c.443G>A (p.Arg148Gln) rs140575619 0.00049
NM_201384.3(PLEC):c.10509G>A (p.Ala3503=) rs189859084 0.00049
NM_201384.3(PLEC):c.13182C>T (p.Thr4394=) rs373958891 0.00049
NM_201384.3(PLEC):c.5227G>A (p.Ala1743Thr) rs781946435 0.00049
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713 0.00049
NM_207391.3(RGS9BP):c.311C>T (p.Pro104Leu) rs774841433 0.00049
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=) rs80359810 0.00048
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr) rs201753022 0.00048
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_000402.4(G6PD):c.632A>T (p.Asp211Val) rs5030872 0.00048
NM_000503.6(EYA1):c.1699-8T>C rs201537030 0.00048
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706 0.00048
NM_001035.3(RYR2):c.10231-4T>C rs117180147 0.00048
NM_001082538.3(TCTN1):c.1563C>T (p.Tyr521=) rs368907353 0.00048
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) rs144245125 0.00048
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=) rs544993852 0.00048
NM_001164277.2(SLC37A4):c.1168C>T (p.His390Tyr) rs199764888 0.00048
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=) rs142910512 0.00048
NM_001170629.2(CHD8):c.6119A>G (p.Asp2040Gly) rs148494847 0.00048
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_001267550.2(TTN):c.31763-1G>A rs202234172 0.00048
NM_001267550.2(TTN):c.55417A>G (p.Arg18473Gly) rs72646822 0.00048
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876 0.00048
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His) rs201512527 0.00048
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr) rs72648259 0.00048
NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) rs370932895 0.00048
NM_001368894.2(PAX6):c.1032G>A (p.Pro344=) rs146261351 0.00048
NM_001429.4(EP300):c.3105C>T (p.Thr1035=) rs150498069 0.00048
NM_001457.4(FLNB):c.6173A>G (p.Lys2058Arg) rs141698427 0.00048
NM_001458.5(FLNC):c.5592C>T (p.Ala1864=) rs117517372 0.00048
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989 0.00048
NM_001849.4(COL6A2):c.1944C>T (p.Ile648=) rs148178994 0.00048
NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu) rs185711494 0.00048
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_003482.4(KMT2D):c.16599G>A (p.Arg5533=) rs199798179 0.00048
NM_004187.5(KDM5C):c.465C>T (p.Ser155=) rs138520224 0.00048
NM_004393.6(DAG1):c.1022C>T (p.Thr341Ile) rs148759919 0.00048
NM_004463.3(FGD1):c.2816A>C (p.Glu939Ala) rs147012050 0.00048
NM_004523.4(KIF11):c.2914A>G (p.Thr972Ala) rs143577999 0.00048
NM_004817.4(TJP2):c.908C>T (p.Pro303Leu) rs199641113 0.00048
NM_005249.5(FOXG1):c.503G>C (p.Gly168Ala) rs148157138 0.00048
NM_005477.3(HCN4):c.1371+9G>A rs200303699 0.00048
NM_006005.3(WFS1):c.2424C>T (p.Ser808=) rs56035336 0.00048
NM_006204.4(PDE6C):c.219G>T (p.Gly73=) rs140469169 0.00048
NM_006922.4(SCN3A):c.642G>A (p.Ala214=) rs575814709 0.00048
NM_012254.3(SLC27A5):c.1377+10C>T rs146267408 0.00048
NM_012470.4(TNPO3):c.120+9C>A rs372906002 0.00048
NM_015102.5(NPHP4):c.1935A>G (p.Leu645=) rs200104274 0.00048
NM_018006.5(TRMU):c.772+8G>A rs201372242 0.00048
NM_018129.4(PNPO):c.723C>G (p.Ser241=) rs144362146 0.00048
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys) rs147306623 0.00048
NM_022124.6(CDH23):c.1078C>T (p.Leu360=) rs185917383 0.00048
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523 0.00048
NM_025193.4(HSD3B7):c.695-6C>T rs139152685 0.00048
NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=) rs376298949 0.00048
NM_133433.4(NIPBL):c.615G>A (p.Ser205=) rs150678035 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_138694.4(PKHD1):c.6782A>G (p.Asn2261Ser) rs146102132 0.00048
NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=) rs183674012 0.00048
NM_170707.4(LMNA):c.1911C>T (p.Phe637=) rs117939448 0.00048
NM_170707.4(LMNA):c.789G>A (p.Leu263=) rs148557956 0.00048
NM_173495.3(PTCHD1):c.1494C>T (p.Thr498=) rs138676073 0.00048
NM_194248.3(OTOF):c.4483C>A (p.Arg1495=) rs147321712 0.00048
NM_201384.3(PLEC):c.13641C>G (p.Ala4547=) rs782535880 0.00048
NM_201384.3(PLEC):c.2704G>A (p.Asp902Asn) rs199833127 0.00048
NM_201384.3(PLEC):c.8496C>T (p.Arg2832=) rs369013440 0.00048
NM_201384.3(PLEC):c.963C>T (p.Phe321=) rs368425406 0.00048
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248 0.00048
NM_207122.2(EXT2):c.1534G>T (p.Val512Leu) rs147753803 0.00048
NM_000059.4(BRCA2):c.9843A>G (p.Pro3281=) rs11571832 0.00047
NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met) rs201414567 0.00047
NM_000208.4(INSR):c.41T>C (p.Leu14Pro) rs745857330 0.00047
NM_000271.5(NPC1):c.3548G>A (p.Arg1183His) rs148035987 0.00047
NM_000452.3(SLC10A2):c.835A>T (p.Thr279Ser) rs149096396 0.00047
NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr) rs200161949 0.00047
NM_001080.3(ALDH5A1):c.1107C>T (p.Arg369=) rs148188703 0.00047
NM_001110556.2(FLNA):c.1450C>T (p.Arg484Trp) rs61730768 0.00047
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) rs148546224 0.00047
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512 0.00047
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) rs202017608 0.00047
NM_001349253.2(SCN11A):c.3473T>C (p.Leu1158Pro) rs141686175 0.00047
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn) rs146567534 0.00047
NM_001374385.1(ATP8B1):c.433C>T (p.Leu145=) rs140634215 0.00047
NM_003482.4(KMT2D):c.1149C>T (p.Asp383=) rs201709328 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_005006.7(NDUFS1):c.529A>G (p.Ile177Val) rs140126185 0.00047
NM_005120.3(MED12):c.2613G>A (p.Gln871=) rs372344160 0.00047
NM_006031.6(PCNT):c.2610-8T>C rs377164652 0.00047
NM_007254.4(PNKP):c.188C>T (p.Ala63Val) rs3739173 0.00047
NM_007254.4(PNKP):c.519C>T (p.Asp173=) rs144284975 0.00047
NM_012254.3(SLC27A5):c.513C>G (p.Ala171=) rs139127895 0.00047
NM_012254.3(SLC27A5):c.524C>T (p.Thr175Ile) rs150780205 0.00047
NM_014014.5(SNRNP200):c.6369C>T (p.Ser2123=) rs61753580 0.00047
NM_014140.4(SMARCAL1):c.962G>A (p.Gly321Asp) rs148752234 0.00047
NM_024426.6(WT1):c.1131T>C (p.Pro377=) rs151034312 0.00047
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser) rs183633457 0.00047
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter) rs137891647 0.00047
NM_152564.5(VPS13B):c.10313A>G (p.Asn3438Ser) rs146460917 0.00047
NM_152618.3(BBS12):c.978T>A (p.Thr326=) rs115635198 0.00047
NM_152618.3(BBS12):c.979T>A (p.Ser327Thr) rs116805550 0.00047
NM_000078.3(CETP):c.940G>A (p.Glu314Lys) rs140547417 0.00046
NM_000235.4(LIPA):c.112-9T>C rs200186130 0.00046
NM_000260.4(MYO7A):c.2097C>T (p.Gly699=) rs373495082 0.00046
NM_000260.4(MYO7A):c.4066A>T (p.Ser1356Cys) rs201195495 0.00046
NM_000283.4(PDE6B):c.267C>T (p.Ala89=) rs147181781 0.00046
NM_000318.3(PEX2):c.282A>T (p.Arg94Ser) rs140963177 0.00046
NM_000350.3(ABCA4):c.596C>T (p.Ala199Val) rs145065936 0.00046
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665 0.00046
NM_000489.6(ATRX):c.4120+4A>C rs200420513 0.00046
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00046
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) rs145044872 0.00046
NM_000548.5(TSC2):c.1839+6G>A rs45517204 0.00046
NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=) rs149142237 0.00046
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=) rs373721253 0.00046
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322 0.00046
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=) rs146979083 0.00046
NM_001128178.3(NPHP1):c.771+134G>A rs140151060 0.00046
NM_001128228.3(TPRN):c.1468G>A (p.Val490Met) rs144139211 0.00046
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410 0.00046
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys) rs186624523 0.00046
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr) rs72648947 0.00046
NM_001267550.2(TTN):c.33G>A (p.Pro11=) rs138331646 0.00046
NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu) rs398124448 0.00046
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg) rs371943746 0.00046
NM_001267550.2(TTN):c.47955A>G (p.Pro15985=) rs192953152 0.00046
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=) rs139789997 0.00046
NM_001267550.2(TTN):c.65276-8T>C rs377484398 0.00046
NM_001267550.2(TTN):c.88028G>A (p.Arg29343His) rs73036368 0.00046
NM_001318510.2(ACSL4):c.1325A>G (p.Tyr442Cys) rs200451158 0.00046
NM_001365951.3(KIF1B):c.2551T>A (p.Leu851Met) rs139572764 0.00046
NM_001372044.2(SHANK3):c.4259C>T (p.Pro1420Leu) rs73174429 0.00046
NM_001374385.1(ATP8B1):c.1433A>G (p.Asp478Gly) rs200214627 0.00046
NM_001378609.3(OTOGL):c.6019+5G>A rs368712763 0.00046
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser) rs147569641 0.00046
NM_001848.3(COL6A1):c.738+14C>T rs374896651 0.00046
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln) rs147158850 0.00046
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633 0.00046
NM_002025.4(AFF2):c.3088A>C (p.Ile1030Leu) rs149653283 0.00046
NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met) rs181657861 0.00046
NM_002335.4(LRP5):c.2324T>C (p.Ile775Thr) rs144983823 0.00046
NM_003742.4(ABCB11):c.3524A>C (p.Lys1175Thr) rs200709879 0.00046
NM_004006.3(DMD):c.2457A>C (p.Leu819=) rs72468680 0.00046
NM_004006.3(DMD):c.3162+4A>G rs189048508 0.00046
NM_004369.4(COL6A3):c.3680-5C>T rs370146203 0.00046
NM_004369.4(COL6A3):c.5139G>A (p.Gly1713=) rs114338020 0.00046
NM_004560.4(ROR2):c.234G>A (p.Thr78=) rs141093530 0.00046
NM_005045.4(RELN):c.7114G>A (p.Val2372Met) rs114344654 0.00046
NM_005220.3(DLX3):c.853G>A (p.Ala285Thr) rs148713638 0.00046
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro) rs139838884 0.00046
NM_006031.6(PCNT):c.9594G>A (p.Thr3198=) rs143776463 0.00046
NM_006420.3(ARFGEF2):c.4462A>T (p.Thr1488Ser) rs151221957 0.00046
NM_006486.3(FBLN1):c.286G>A (p.Gly96Ser) rs199802935 0.00046
NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=) rs199904356 0.00046
NM_007254.4(PNKP):c.672C>T (p.Arg224=) rs151180981 0.00046
NM_014780.5(CUL7):c.3876C>T (p.Ile1292=) rs147056081 0.00046
NM_015295.3(SMCHD1):c.789C>T (p.His263=) rs374899324 0.00046
NM_018136.5(ASPM):c.8166T>C (p.Tyr2722=) rs78315399 0.00046
NM_018249.6(CDK5RAP2):c.4838G>A (p.Ser1613Asn) rs202075321 0.00046
NM_020320.5(RARS2):c.78A>C (p.Thr26=) rs138360045 0.00046
NM_022436.3(ABCG5):c.99G>A (p.Pro33=) rs149907931 0.00046
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp) rs200346497 0.00046
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559 0.00046
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met) rs199988872 0.00046
NM_153676.4(USH1C):c.2265C>T (p.Leu755=) rs151251262 0.00046
NM_153676.4(USH1C):c.648G>A (p.Leu216=) rs77137413 0.00046
NM_153704.6(TMEM67):c.369C>T (p.Ala123=) rs115640152 0.00046
NM_172107.4(KCNQ2):c.1827C>T (p.Ala609=) rs369438374 0.00046
NM_173495.3(PTCHD1):c.1665G>A (p.Val555=) rs146777271 0.00046
NM_182961.4(SYNE1):c.14091G>T (p.Met4697Ile) rs141141950 0.00046
NM_182961.4(SYNE1):c.976T>C (p.Trp326Arg) rs146668256 0.00046
NM_194248.3(OTOF):c.5829C>T (p.Ser1943=) rs151005752 0.00046
NM_198525.3(KIF7):c.2672G>C (p.Arg891Thr) rs143250090 0.00046
NM_201384.3(PLEC):c.5874G>A (p.Thr1958=) rs185082202 0.00046
NM_201384.3(PLEC):c.6778G>A (p.Asp2260Asn) rs371763907 0.00046
NM_201384.3(PLEC):c.8046C>T (p.Leu2682=) rs375590561 0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_207361.6(FREM2):c.2754C>T (p.Val918=) rs140353326 0.00046
NM_000026.4(ADSL):c.702-7T>C rs201509960 0.00045
NM_000095.3(COMP):c.763-8T>C rs374063820 0.00045
NM_000108.5(DLD):c.100A>G (p.Thr34Ala) rs138002793 0.00045
NM_000214.3(JAG1):c.1755C>T (p.Asn585=) rs142808131 0.00045
NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr) rs200241993 0.00045
NM_000292.3(PHKA2):c.1396G>A (p.Ala466Thr) rs144591812 0.00045
NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr) rs147010346 0.00045
NM_000452.3(SLC10A2):c.785C>T (p.Thr262Met) rs72547505 0.00045
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=) rs184684058 0.00045
NM_000744.7(CHRNA4):c.1006C>T (p.Arg336Cys) rs56175056 0.00045
NM_001042432.2(CLN3):c.831G>A (p.Val277=) rs1142183 0.00045
NM_001061.7(TBXAS1):c.623C>G (p.Pro208Arg) rs137946697 0.00045
NM_001077365.2(POMT1):c.1365+15C>T rs58896330 0.00045
NM_001098671.2(RASGRP2):c.371+7G>T rs181901181 0.00045
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=) rs142769942 0.00045
NM_001161352.2(KCNMA1):c.2965C>T (p.Arg989Cys) rs143599540 0.00045
NM_001193315.2(VIPAS39):c.447+9C>T rs145373891 0.00045
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=) rs200149062 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.104592G>A (p.Pro34864=) rs144094650 0.00045
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=) rs72648918 0.00045
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe) rs201523784 0.00045
NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile) rs149059189 0.00045
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val) rs201348580 0.00045
NM_001267550.2(TTN):c.91311A>G (p.Glu30437=) rs374094732 0.00045
NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys) rs192843629 0.00045
NM_001374385.1(ATP8B1):c.2595C>T (p.Cys865=) rs201885528 0.00045
NM_001384140.1(PCDH15):c.330C>T (p.Asn110=) rs146796009 0.00045
NM_001458.5(FLNC):c.3966C>T (p.Gly1322=) rs200237564 0.00045
NM_002294.3(LAMP2):c.385G>A (p.Ala129Thr) rs149276836 0.00045
NM_002617.4(PEX10):c.418G>C (p.Gly140Arg) rs76530653 0.00045
NM_003072.5(SMARCA4):c.2850C>T (p.Thr950=) rs141259126 0.00045
NM_003289.4(TPM2):c.726C>T (p.Ala242=) rs76414035 0.00045
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_004006.3(DMD):c.7243C>T (p.Arg2415Cys) rs139395045 0.00045
NM_004727.3(SLC24A1):c.2183C>T (p.Ala728Val) rs201943537 0.00045
NM_005257.6(GATA6):c.1605A>G (p.Gln535=) rs117646477 0.00045
NM_005477.3(HCN4):c.2800C>T (p.Arg934Cys) rs199638465 0.00045
NM_005529.7(HSPG2):c.13033G>A (p.Gly4345Arg) rs148788926 0.00045
NM_006005.3(WFS1):c.2627A>C (p.Lys876Thr) rs144900514 0.00045
NM_015340.4(LARS2):c.2203G>A (p.Val735Ile) rs141011840 0.00045
NM_016239.4(MYO15A):c.858C>G (p.Pro286=) rs200424851 0.00045
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183 0.00045
NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn) rs72650720 0.00045
NM_020779.4(WDR35):c.1051C>G (p.Pro351Ala) rs140753861 0.00045
NM_021101.5(CLDN1):c.41C>T (p.Ala14Val) rs141961866 0.00045
NM_021830.5(TWNK):c.384C>T (p.Ser128=) rs148234280 0.00045
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys) rs111033522 0.00045
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln) rs201747452 0.00045
NM_032119.4(ADGRV1):c.8842G>A (p.Ala2948Thr) rs369777874 0.00045
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp) rs141140798 0.00045
NM_133379.5(TTN):c.12979A>G (p.Ile4327Val) rs144226338 0.00045
NM_133379.5(TTN):c.16328T>C (p.Val5443Ala) rs145183384 0.00045
NM_201384.3(PLEC):c.759C>T (p.Thr253=) rs377118309 0.00045
NM_207346.3(TSEN54):c.1114G>A (p.Val372Met) rs200434678 0.00045
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793 0.00044
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628 0.00044
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu) rs61748434 0.00044
NM_000338.3(SLC12A1):c.1089A>G (p.Ala363=) rs142646329 0.00044
NM_000392.5(ABCC2):c.4075A>C (p.Ile1359Leu) rs142700351 0.00044
NM_000443.4(ABCB4):c.3296A>G (p.Glu1099Gly) rs139042803 0.00044
NM_000823.4(GHRHR):c.489C>T (p.Tyr163=) rs147098353 0.00044
NM_000875.5(IGF1R):c.568C>T (p.Pro190Ser) rs144739747 0.00044
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) rs200696965 0.00044
NM_001061.7(TBXAS1):c.1520A>T (p.Glu507Val) rs200663004 0.00044
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717 0.00044
NM_001267550.2(TTN):c.66172C>T (p.Arg22058Cys) rs199643269 0.00044
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys) rs192152102 0.00044
NM_001291867.2(NHS):c.1596G>A (p.Glu532=) rs146437542 0.00044
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) rs201818223 0.00044
NM_001351132.2(PEX5):c.552-7G>A rs189631769 0.00044
NM_001849.4(COL6A2):c.426G>A (p.Thr142=) rs149480738 0.00044
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His) rs140250347 0.00044
NM_003165.6(STXBP1):c.1804A>G (p.Met602Val) rs141208884 0.00044
NM_004006.3(DMD):c.5586+9G>A rs200025478 0.00044
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu) rs114849139 0.00044
NM_004817.4(TJP2):c.2720T>C (p.Met907Thr) rs149659876 0.00044
NM_004817.4(TJP2):c.2880+19C>T rs200384355 0.00044
NM_006579.3(EBP):c.650C>T (p.Thr217Met) rs150348311 0.00044
NM_006662.3(SRCAP):c.7853A>G (p.Asn2618Ser) rs144476508 0.00044
NM_015346.4(ZFYVE26):c.2799C>T (p.Leu933=) rs146793500 0.00044
NM_020320.5(RARS2):c.773G>A (p.Arg258His) rs145297855 0.00044
NM_020433.5(JPH2):c.1380G>A (p.Ala460=) rs531877510 0.00044
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys) rs200955930 0.00044
NM_032382.5(COG8):c.597C>T (p.Asn199=) rs113642086 0.00044
NM_080680.3(COL11A2):c.480T>G (p.Ser160=) rs142969513 0.00044
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser) rs35116188 0.00044
NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala) rs184770596 0.00044
NM_133497.4(KCNV2):c.80G>A (p.Arg27His) rs145731729 0.00044
NM_145239.3(PRRT2):c.439G>C (p.Asp147His) rs79568162 0.00044
NM_153717.3(EVC):c.1653G>A (p.Pro551=) rs151293705 0.00044
NM_170682.4(P2RX2):c.947C>T (p.Thr316Met) rs150293706 0.00044
NM_198999.3(SLC26A5):c.1572C>T (p.Asp524=) rs191358470 0.00044
NM_201384.3(PLEC):c.5862C>T (p.Asn1954=) rs550994317 0.00044
NM_201384.3(PLEC):c.6099G>A (p.Ala2033=) rs375465011 0.00044
NM_207346.3(TSEN54):c.537G>A (p.Pro179=) rs113016401 0.00044
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180 0.00043
NM_000168.6(GLI3):c.3829C>G (p.Gln1277Glu) rs146582871 0.00043
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_000540.3(RYR1):c.3111C>T (p.Ser1037=) rs145434723 0.00043
NM_000540.3(RYR1):c.6645C>T (p.Leu2215=) rs146617004 0.00043
NM_000548.5(TSC2):c.3610+6G>A rs45517301 0.00043
NM_000709.4(BCKDHA):c.288C>T (p.His96=) rs148571328 0.00043
NM_001040142.2(SCN2A):c.4257C>T (p.Ala1419=) rs141153302 0.00043
NM_001048166.1(STIL):c.3156C>T (p.Ser1052=) rs113337758 0.00043
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=) rs150269172 0.00043
NM_001083962.2(TCF4):c.341G>A (p.Arg114Lys) rs139876825 0.00043
NM_001123385.2(BCOR):c.4724T>C (p.Met1575Thr) rs142595337 0.00043
NM_001127453.2(GSDME):c.1122C>T (p.Pro374=) rs138980048 0.00043
NM_001128840.3(CACNA1D):c.6417C>T (p.Asp2139=) rs375811590 0.00043
NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu) rs139411595 0.00043
NM_001130987.2(DYSF):c.978A>T (p.Thr326=) rs112007817 0.00043
NM_001170629.2(CHD8):c.1717-4A>G rs191933523 0.00043
NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=) rs367732133 0.00043
NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln) rs201622536 0.00043
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) rs201257644 0.00043
NM_001429.4(EP300):c.3063T>C (p.Thr1021=) rs142431552 0.00043
NM_001457.4(FLNB):c.4058C>G (p.Thr1353Ser) rs142718547 0.00043
NM_001701.4(BAAT):c.-6A>T rs181929679 0.00043
NM_002025.4(AFF2):c.1097A>G (p.His366Arg) rs199574795 0.00043
NM_002204.4(ITGA3):c.3046-4G>A rs368305833 0.00043
NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly) rs145947380 0.00043
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=) rs143048583 0.00043
NM_002857.4(PEX19):c.255G>A (p.Ala85=) rs150928521 0.00043
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_004333.6(BRAF):c.2127+3A>G rs371976102 0.00043
NM_004369.4(COL6A3):c.786C>T (p.Leu262=) rs111481402 0.00043
NM_004625.4(WNT7A):c.1028C>T (p.Thr343Met) rs140491601 0.00043
NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys) rs146877597 0.00043
NM_005097.4(LGI1):c.717A>C (p.Ile239=) rs146425212 0.00043
NM_005120.3(MED12):c.653C>T (p.Thr218Met) rs369083173 0.00043
NM_005529.7(HSPG2):c.10187C>T (p.Ala3396Val) rs200225298 0.00043
NM_005996.4(TBX3):c.1290C>T (p.Gly430=) rs369999628 0.00043
NM_013382.7(POMT2):c.1404A>G (p.Lys468=) rs150491326 0.00043
NM_017780.4(CHD7):c.360C>T (p.Gly120=) rs375438732 0.00043
NM_018136.5(ASPM):c.2263G>A (p.Ala755Thr) rs150852085 0.00043
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) rs138004478 0.00043
NM_020975.6(RET):c.1354C>A (p.Leu452Ile) rs151148041 0.00043
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044 0.00043
NM_022437.3(ABCG8):c.97G>A (p.Asp33Asn) rs148456883 0.00043
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu) rs140382957 0.00043
NM_033337.3(CAV3):c.417C>T (p.Val139=) rs147250678 0.00043
NM_145239.3(PRRT2):c.828C>T (p.Cys276=) rs35625748 0.00043
NM_173660.5(DOK7):c.1029C>T (p.Gly343=) rs375877997 0.00043
NM_201384.3(PLEC):c.12615C>T (p.Ile4205=) rs202116866 0.00043
NM_201384.3(PLEC):c.13071C>T (p.Cys4357=) rs202153947 0.00043
NM_201384.3(PLEC):c.1545C>T (p.Pro515=) rs199968254 0.00043
NM_201384.3(PLEC):c.7062G>A (p.Ala2354=) rs375587611 0.00043
NM_201384.3(PLEC):c.8697C>T (p.Ser2899=) rs200383203 0.00043
NM_000088.4(COL1A1):c.3123C>T (p.Pro1041=) rs145608939 0.00042
NM_000138.5(FBN1):c.2148A>G (p.Gly716=) rs141039922 0.00042
NM_000540.3(RYR1):c.9385C>T (p.Leu3129Phe) rs143445685 0.00042
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys) rs201733876 0.00042
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys) rs144076460 0.00042
NM_001201543.2(FAM161A):c.1929A>G (p.Ser643=) rs369633003 0.00042
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr) rs201394117 0.00042
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108 0.00042
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=) rs72648971 0.00042
NM_001267550.2(TTN):c.39044-9T>A rs184888200 0.00042
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys) rs202094100 0.00042
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) rs188185141 0.00042
NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln) rs376820301 0.00042
NM_001297.5(CNGB1):c.1631C>T (p.Pro544Leu) rs145234666 0.00042
NM_001377.3(DYNC2H1):c.1966G>A (p.Gly656Arg) rs369040584 0.00042
NM_002335.4(LRP5):c.1585-9G>A rs202067798 0.00042
NM_003482.4(KMT2D):c.14643+12G>A rs186670730 0.00042
NM_004006.3(DMD):c.2824A>G (p.Met942Val) rs371648742 0.00042
NM_005379.4(MYO1A):c.658C>T (p.Arg220Trp) rs144009842 0.00042
NM_006922.4(SCN3A):c.5469T>A (p.Pro1823=) rs368608408 0.00042
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp) rs139145143 0.00042
NM_020812.4(DOCK6):c.5088+8C>G rs147181483 0.00042
NM_022455.5(NSD1):c.3564G>C (p.Arg1188Ser) rs199814669 0.00042
NM_130837.3(OPA1):c.2610C>T (p.Thr870=) rs139934030 0.00042
NM_133379.5(TTN):c.10617T>C (p.His3539=) rs200284932 0.00042
NM_133379.5(TTN):c.14806A>T (p.Thr4936Ser) rs72648909 0.00042
NM_144672.4(OTOA):c.1173G>A (p.Ser391=) rs143326637 0.00042
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu) rs142486910 0.00042
NM_182914.3(SYNE2):c.14528T>A (p.Phe4843Tyr) rs141488398 0.00042
NM_201384.3(PLEC):c.13111G>A (p.Ala4371Thr) rs200361523 0.00042
NM_201384.3(PLEC):c.4233G>A (p.Ala1411=) rs2855760 0.00042
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465 0.00041
NM_000137.4(FAH):c.243G>A (p.Ala81=) rs36122289 0.00041
NM_000214.3(JAG1):c.814G>A (p.Val272Ile) rs148990028 0.00041
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg) rs150395645 0.00041
NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp) rs146646008 0.00041
NM_000295.5(SERPINA1):c.-7A>G rs559054925 0.00041
NM_000335.5(SCN5A):c.694G>A (p.Val232Ile) rs45471994 0.00041
NM_000337.6(SGCD):c.543T>G (p.Pro181=) rs200451694 0.00041
NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro) rs377598226 0.00041
NM_000392.5(ABCC2):c.150C>T (p.His50=) rs200595851 0.00041
NM_000396.4(CTSK):c.684C>T (p.Pro228=) rs142097792 0.00041
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp) rs61752456 0.00041
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_000492.4(CFTR):c.3469-17T>C rs199630678 0.00041
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=) rs373606009 0.00041
NM_001083961.2(WDR62):c.4159C>A (p.Leu1387Ile) rs147652186 0.00041
NM_001127222.2(CACNA1A):c.978+9T>C rs111366222 0.00041
NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=) rs138985089 0.00041
NM_001164277.2(SLC37A4):c.1240C>T (p.Leu414=) rs200703321 0.00041
NM_001177316.2(SLC34A3):c.929G>A (p.Arg310His) rs200477567 0.00041
NM_001267550.2(TTN):c.20743G>T (p.Ala6915Ser) rs201728165 0.00041
NM_001267550.2(TTN):c.47379C>T (p.Tyr15793=) rs374281025 0.00041
NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln) rs370390570 0.00041
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys) rs200144345 0.00041
NM_001267550.2(TTN):c.72181A>G (p.Met24061Val) rs201482015 0.00041
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027 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_001267550.2(TTN):c.88459G>A (p.Val29487Met) rs200899806 0.00041
NM_001267550.2(TTN):c.92241T>C (p.Gly30747=) rs373311745 0.00041
NM_001267550.2(TTN):c.93367G>C (p.Val31123Leu) rs202096200 0.00041
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys) rs72648278 0.00041
NM_001374353.1(GLI2):c.2034G>A (p.Thr678=) rs139298853 0.00041
NM_001378454.1(ALMS1):c.12438G>T (p.Arg4146=) rs35902379 0.00041
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val) rs202111717 0.00041
NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser) rs191697915 0.00041
NM_001429.4(EP300):c.739A>G (p.Met247Val) rs147583157 0.00041
NM_001851.6(COL9A1):c.2159G>A (p.Arg720Gln) rs192467838 0.00041
NM_002471.4(MYH6):c.210T>C (p.Thr70=) rs147397431 0.00041
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=) rs143947828 0.00041
NM_003701.4(TNFSF11):c.591C>A (p.Ser197=) rs151215329 0.00041
NM_004369.4(COL6A3):c.3419C>T (p.Thr1140Met) rs201131900 0.00041
NM_004369.4(COL6A3):c.4103C>T (p.Thr1368Met) rs116505603 0.00041
NM_004380.3(CREBBP):c.879G>A (p.Val293=) rs144344016 0.00041
NM_004817.4(TJP2):c.918C>T (p.Ile306=) rs374523970 0.00041
NM_005027.4(PIK3R2):c.1023C>T (p.Asn341=) rs201900751 0.00041
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala) rs149837553 0.00041
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) rs374826256 0.00041
NM_005670.4(EPM2A):c.376A>G (p.Ile126Val) rs150452237 0.00041
NM_012470.4(TNPO3):c.582T>C (p.Asp194=) rs148885407 0.00041
NM_014141.6(CNTNAP2):c.3927C>T (p.Ala1309=) rs143856702 0.00041
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) rs121918363 0.00041
NM_014639.4(SKIC3):c.3079G>A (p.Gly1027Ser) rs188952987 0.00041
NM_018136.5(ASPM):c.7551T>C (p.Tyr2517=) rs149228705 0.00041
NM_020631.6(PLEKHG5):c.719A>G (p.Asp240Gly) rs199794578 0.00041
NM_020822.3(KCNT1):c.2070C>T (p.Gly690=) rs370155559 0.00041
NM_021625.5(TRPV4):c.1491+10C>T rs201815805 0.00041
NM_023110.3(FGFR1):c.2278T>C (p.Leu760=) rs201490643 0.00041
NM_024747.6(HPS6):c.2250G>A (p.Ser750=) rs139161525 0.00041
NM_030665.4(RAI1):c.1941C>T (p.Ser647=) rs140198185 0.00041
NM_031220.4(PITPNM3):c.1671C>T (p.Tyr557=) rs74748737 0.00041
NM_032888.4(COL27A1):c.364C>T (p.Arg122Cys) rs372265305 0.00041
NM_080680.3(COL11A2):c.1720-4G>T rs369678506 0.00041
NM_130837.3(OPA1):c.2421G>T (p.Leu807=) rs148047706 0.00041
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=) rs34796823 0.00041
NM_173630.4(RTTN):c.1301A>C (p.Asp434Ala) rs8083708 0.00041
NM_182914.3(SYNE2):c.18723+8C>T rs200853043 0.00041
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=) rs144418713 0.00041
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) rs41291047 0.00041
NM_182961.4(SYNE1):c.2728A>G (p.Ser910Gly) rs141214076 0.00041
NM_201384.3(PLEC):c.10498C>T (p.Arg3500Cys) rs200541837 0.00041
NM_206933.4(USH2A):c.10470G>T (p.Val3490=) rs201401001 0.00041
NM_000089.4(COL1A2):c.1008C>T (p.Ala336=) rs138357977 0.00040
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000214.3(JAG1):c.1920C>T (p.Asn640=) rs372121353 0.00040
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_000742.4(CHRNA2):c.166A>T (p.Thr56Ser) rs144185168 0.00040
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=) rs201206239 0.00040
NM_001083961.2(WDR62):c.3058G>A (p.Ala1020Thr) rs144120866 0.00040
NM_001110556.2(FLNA):c.5055G>A (p.Thr1685=) rs372863999 0.00040
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=) rs150570058 0.00040
NM_001182.5(ALDH7A1):c.494G>C (p.Gly165Ala) rs375491094 0.00040
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His) rs55850344 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_001369268.1(ACAN):c.185C>A (p.Thr62Asn) rs200239326 0.00040
NM_001458.5(FLNC):c.5764G>A (p.Ala1922Thr) rs202128602 0.00040
NM_001909.5(CTSD):c.75G>A (p.Pro25=) rs140563067 0.00040
NM_003482.4(KMT2D):c.6235-6C>G rs373858319 0.00040
NM_003482.4(KMT2D):c.7078C>G (p.Pro2360Ala) rs376483324 0.00040
NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln) rs141862495 0.00040
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=) rs201087979 0.00040
NM_004006.3(DMD):c.2490C>T (p.Asn830=) rs72468679 0.00040
NM_004187.5(KDM5C):c.3990C>G (p.Ala1330=) rs143291826 0.00040
NM_004281.4(BAG3):c.888C>T (p.His296=) rs139399890 0.00040
NM_004380.3(CREBBP):c.6661A>C (p.Met2221Leu) rs200716582 0.00040
NM_004463.3(FGD1):c.281A>G (p.His94Arg) rs189159946 0.00040
NM_004937.3(CTNS):c.561+4C>T rs111256750 0.00040
NM_006086.4(TUBB3):c.357G>A (p.Val119=) rs34174718 0.00040
NM_006363.6(SEC23B):c.519G>A (p.Val173=) rs138314893 0.00040
NM_007254.4(PNKP):c.627G>A (p.Glu209=) rs532550120 0.00040
NM_007317.3(KIF22):c.1619A>T (p.Gln540Leu) rs148628152 0.00040
NM_014625.4(NPHS2):c.709G>C (p.Glu237Gln) rs146906190 0.00040
NM_015102.5(NPHP4):c.3837C>T (p.Phe1279=) rs375237454 0.00040
NM_015295.3(SMCHD1):c.1957-3C>T rs201069969 0.00040
NM_015295.3(SMCHD1):c.2151G>A (p.Ala717=) rs372945746 0.00040
NM_017780.4(CHD7):c.2751G>A (p.Thr917=) rs369429961 0.00040
NM_019066.5(MAGEL2):c.1175C>T (p.Thr392Met) rs781777662 0.00040
NM_019066.5(MAGEL2):c.1423G>T (p.Ala475Ser) rs760039339 0.00040
NM_138694.4(PKHD1):c.129T>C (p.Asp43=) rs201195801 0.00040
NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=) rs146759786 0.00040
NM_182961.4(SYNE1):c.2065C>A (p.Arg689=) rs139480065 0.00040
NM_194248.3(OTOF):c.4548C>T (p.Tyr1516=) rs139525746 0.00040
NM_201384.3(PLEC):c.3533G>A (p.Arg1178Gln) rs782590380 0.00040
NM_201384.3(PLEC):c.8613C>T (p.Cys2871=) rs35821434 0.00040
NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser) rs34447581 0.00040
NM_000026.4(ADSL):c.270T>C (p.Ala90=) rs143275316 0.00039
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000142.5(FGFR3):c.252G>A (p.Ser84=) rs367973461 0.00039
NM_000168.6(GLI3):c.2245A>G (p.Ile749Val) rs140048578 0.00039
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000195.5(HPS1):c.700C>T (p.Leu234=) rs150444975 0.00039
NM_000214.3(JAG1):c.894T>C (p.Asn298=) rs149897344 0.00039
NM_000232.5(SGCB):c.768C>T (p.Ile256=) rs149121189 0.00039
NM_000235.4(LIPA):c.891C>T (p.Ser297=) rs145066614 0.00039
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe) rs17224367 0.00039
NM_000392.5(ABCC2):c.1007C>T (p.Thr336Met) rs149854486 0.00039
NM_000433.4(NCF2):c.93C>T (p.Ala31=) rs143889676 0.00039
NM_000452.3(SLC10A2):c.415G>A (p.Gly139Arg) rs200749358 0.00039
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_000540.3(RYR1):c.12852CACGGCGGC[3] (p.4285TAA[3]) rs398123469 0.00039
NM_000742.4(CHRNA2):c.1234G>A (p.Glu412Lys) rs141721605 0.00039
NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met) rs146157131 0.00039
NM_001039213.4(CEACAM16):c.869C>T (p.Thr290Met) rs61729706 0.00039
NM_001126121.2(SLC25A19):c.750G>A (p.Glu250=) rs147904037 0.00039
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln) rs199886234 0.00039
NM_001134407.3(GRIN2A):c.666C>T (p.Ile222=) rs143594020 0.00039
NM_001134407.3(GRIN2A):c.741C>T (p.Gly247=) rs141912603 0.00039
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe) rs72648943 0.00039
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=) rs202089818 0.00039
NM_001267550.2(TTN):c.32093G>A (p.Arg10698Gln) rs200161147 0.00039
NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu) rs185913848 0.00039
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=) rs367622770 0.00039
NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=) rs140777637 0.00039
NM_001558.4(IL10RA):c.1260G>A (p.Ser420=) rs199604463 0.00039
NM_001851.6(COL9A1):c.1130G>A (p.Arg377His) rs142328549 0.00039
NM_001851.6(COL9A1):c.2436G>T (p.Gln812His) rs141830060 0.00039
NM_001853.4(COL9A3):c.1602C>T (p.Ser534=) rs146578812 0.00039
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) rs151249006 0.00039
NM_002098.6(GUCA1B):c.476-3C>T rs200457582 0.00039
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195 0.00039
NM_002381.5(MATN3):c.330C>T (p.Ile110=) rs201755444 0.00039
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732 0.00039
NM_003049.4(SLC10A1):c.994G>C (p.Gly332Arg) rs201537069 0.00039
NM_003742.4(ABCB11):c.1605C>T (p.Ala535=) rs144848376 0.00039
NM_004006.3(DMD):c.6828C>T (p.Pro2276=) rs72466595 0.00039
NM_004369.4(COL6A3):c.1056C>T (p.Leu352=) rs78365682 0.00039
NM_004369.4(COL6A3):c.1248G>A (p.Leu416=) rs150219857 0.00039
NM_004369.4(COL6A3):c.9017A>G (p.Lys3006Arg) rs2270668 0.00039
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119 0.00039
NM_005120.3(MED12):c.381G>A (p.Thr127=) rs202125318 0.00039
NM_005529.7(HSPG2):c.7826G>A (p.Arg2609Gln) rs147286334 0.00039
NM_006306.4(SMC1A):c.2824C>T (p.Leu942=) rs139654605 0.00039
NM_006420.3(ARFGEF2):c.1233C>T (p.Leu411=) rs147617265 0.00039
NM_006445.4(PRPF8):c.4524C>T (p.Gly1508=) rs144851263 0.00039
NM_014391.3(ANKRD1):c.818T>C (p.Met273Thr) rs183061595 0.00039
NM_015102.5(NPHP4):c.1478C>T (p.Pro493Leu) rs201801114 0.00039
NM_015295.3(SMCHD1):c.5024A>G (p.His1675Arg) rs201071071 0.00039
NM_018668.5(VPS33B):c.1207T>C (p.Leu403=) rs139655526 0.00039
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser) rs148174226 0.00039
NM_024408.4(NOTCH2):c.1804G>A (p.Ala602Thr) rs140311741 0.00039
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys) rs370906851 0.00039
NM_032119.4(ADGRV1):c.357+8C>T rs376004946 0.00039
NM_058246.4(DNAJB6):c.831T>G (p.Ser277=) rs369098407 0.00039
NM_138694.4(PKHD1):c.12198C>T (p.His4066=) rs147051900 0.00039
NM_139027.6(ADAMTS13):c.2308G>A (p.Val770Met) rs374606481 0.00039
NM_139125.4(MASP1):c.1143T>C (p.Ser381=) rs141985299 0.00039
NM_177965.4(CFAP418):c.521A>G (p.Lys174Arg) rs148114532 0.00039
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=) rs111511993 0.00039
NM_182961.4(SYNE1):c.19692+3G>A rs150304757 0.00039
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245 0.00038
NM_000071.3(CBS):c.394C>T (p.Arg132Cys) rs140002610 0.00038
NM_000088.4(COL1A1):c.740C>T (p.Pro247Leu) rs199626372 0.00038
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=) rs139070070 0.00038
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610 0.00038
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222 0.00038
NM_000152.5(GAA):c.600C>T (p.Val200=) rs150895924 0.00038
NM_000209.4(PDX1):c.336C>G (p.Pro112=) rs149275902 0.00038
NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp) rs370338674 0.00038
NM_000392.5(ABCC2):c.3648C>A (p.Asn1216Lys) rs144967259 0.00038
NM_000440.3(PDE6A):c.1214A>G (p.Asn405Ser) rs145107955 0.00038
NM_000466.3(PEX1):c.1360-4G>T rs199716270 0.00038
NM_000492.4(CFTR):c.2620-6T>C rs371315682 0.00038
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_000493.4(COL10A1):c.1927G>A (p.Asp643Asn) rs201121404 0.00038
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038 0.00038
NM_001015880.2(PAPSS2):c.809G>A (p.Gly270Asp) rs138943074 0.00038
NM_001081.4(CUBN):c.9236+8A>G rs372673718 0.00038
NM_001083961.2(WDR62):c.82C>T (p.Arg28Trp) rs200283315 0.00038
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571 0.00038
NM_001164508.2(NEB):c.4299+7A>G rs373926259 0.00038
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile) rs144691638 0.00038
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=) rs192122222 0.00038
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999 0.00038
NM_001267550.2(TTN):c.180T>C (p.Asp60=) rs144750850 0.00038
NM_001267550.2(TTN):c.26694G>T (p.Gly8898=) rs199525540 0.00038
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser) rs201738153 0.00038
NM_001360.3(DHCR7):c.582C>T (p.Phe194=) rs150603941 0.00038
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=) rs143477661 0.00038
NM_001701.4(BAAT):c.403C>G (p.Pro135Ala) rs138613717 0.00038
NM_001848.3(COL6A1):c.349G>A (p.Val117Met) rs150686304 0.00038
NM_002691.4(POLD1):c.13C>T (p.Arg5Trp) rs9282830 0.00038
NM_002968.3(SALL1):c.3120A>G (p.Thr1040=) rs146655918 0.00038
NM_003482.4(KMT2D):c.7954A>C (p.Met2652Leu) rs147706410 0.00038
NM_003640.5(ELP1):c.2217A>G (p.Lys739=) rs139583037 0.00038
NM_004006.3(DMD):c.5181A>T (p.Ile1727=) rs200887855 0.00038
NM_004369.4(COL6A3):c.1131C>T (p.Phe377=) rs189772397 0.00038
NM_004380.3(CREBBP):c.3158C>T (p.Pro1053Leu) rs142008620 0.00038
NM_004525.3(LRP2):c.11288A>T (p.Glu3763Val) rs200475391 0.00038
NM_004984.4(KIF5A):c.2412C>T (p.Asp804=) rs145062338 0.00038
NM_005045.4(RELN):c.5136G>A (p.Thr1712=) rs147933593 0.00038
NM_005476.7(GNE):c.2004C>T (p.Ser668=) rs150045137 0.00038
NM_006907.4(PYCR1):c.540C>T (p.Tyr180=) rs150914837 0.00038
NM_012232.6(CAVIN1):c.168C>A (p.Ser56Arg) rs139531639 0.00038
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_015965.7(NDUFA13):c.45C>A (p.Gly15=) rs183288709 0.00038
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu) rs371522435 0.00038
NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala) rs533729683 0.00038
NM_022367.4(SEMA4A):c.84G>A (p.Thr28=) rs149711133 0.00038
NM_022436.3(ABCG5):c.1365C>T (p.Asp455=) rs141016088 0.00038
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437 0.00038
NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly) rs202106463 0.00038
NM_058246.4(DNAJB6):c.48C>T (p.Pro16=) rs150583876 0.00038
NM_138694.4(PKHD1):c.1234-9T>C rs200707468 0.00038
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=) rs143737660 0.00038
NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=) rs141202420 0.00038
NM_201384.3(PLEC):c.3733C>A (p.Arg1245=) rs367688739 0.00038
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171 0.00037
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744 0.00037
NM_000780.4(CYP7A1):c.123C>T (p.Tyr41=) rs150351766 0.00037
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=) rs138596741 0.00037
NM_001083962.2(TCF4):c.504A>G (p.Val168=) rs370160994 0.00037
NM_001110792.2(MECP2):c.*14G>A rs199963992 0.00037
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=) rs148055736 0.00037
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940 0.00037
NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn) rs143186270 0.00037
NM_001267550.2(TTN):c.98500G>A (p.Glu32834Lys) rs199761901 0.00037
NM_001378454.1(ALMS1):c.3375A>G (p.Val1125=) rs189914793 0.00037
NM_001609.4(ACADSB):c.303+1G>A rs147936696 0.00037
NM_002427.4(MMP13):c.438C>T (p.Ser146=) rs17860530 0.00037
NM_002529.4(NTRK1):c.*6C>T rs370807813 0.00037
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser) rs140825795 0.00037
NM_004369.4(COL6A3):c.5609G>A (p.Ser1870Asn) rs114804083 0.00037
NM_004369.4(COL6A3):c.5839-3C>T rs112825341 0.00037
NM_006059.4(LAMC3):c.1019G>A (p.Arg340Gln) rs149004188 0.00037
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=) rs75746974 0.00037
NM_012470.4(TNPO3):c.275C>T (p.Thr92Ile) rs61756250 0.00037
NM_015295.3(SMCHD1):c.2838T>C (p.Ala946=) rs375251871 0.00037
NM_018136.5(ASPM):c.7475G>A (p.Arg2492Lys) rs118010078 0.00037
NM_025114.4(CEP290):c.943-4C>T rs199770158 0.00037
NM_025114.4(CEP290):c.943-8A>T rs200729812 0.00037
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=) rs140021654 0.00037
NM_201384.3(PLEC):c.11329G>A (p.Glu3777Lys) rs538589589 0.00037
NM_201384.3(PLEC):c.12718G>A (p.Ala4240Thr) rs201688261 0.00037
NM_213599.3(ANO5):c.720G>T (p.Leu240=) rs147121216 0.00037
NM_000141.5(FGFR2):c.1788G>A (p.Glu596=) rs56335660 0.00036
NM_000142.5(FGFR3):c.130G>A (p.Gly44Ser) rs146080119 0.00036
NM_000152.5(GAA):c.2652G>A (p.Thr884=) rs143642048 0.00036
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000287.4(PEX6):c.-2C>G rs376675730 0.00036
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr) rs118203357 0.00036
NM_000414.4(HSD17B4):c.2176C>G (p.Leu726Val) rs145728297 0.00036
NM_000463.3(UGT1A1):c.159G>A (p.Arg53=) rs149071335 0.00036
NM_000492.4(CFTR):c.1766+73T>G rs397508299 0.00036
NM_000492.4(CFTR):c.1920T>C (p.Phe640=) rs145877746 0.00036
NM_000548.5(TSC2):c.1143G>A (p.Arg381=) rs45517155 0.00036
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775 0.00036
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) rs74772771 0.00036
NM_001042472.3(ABHD12):c.1041C>T (p.Ile347=) rs188888939 0.00036
NM_001083962.2(TCF4):c.790-9T>C rs373434281 0.00036
NM_001130987.2(DYSF):c.3086-9C>T rs185350547 0.00036
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=) rs145412880 0.00036
NM_001145308.5(LRTOMT):c.695C>T (p.Ala232Val) rs540371915 0.00036
NM_001145809.2(MYH14):c.1115-4C>T rs142696359 0.00036
NM_001163809.2(WDR81):c.2266C>T (p.Arg756Trp) rs536486423 0.00036
NM_001170629.2(CHD8):c.4304A>T (p.His1435Leu) rs199879706 0.00036
NM_001170629.2(CHD8):c.5402G>A (p.Arg1801His) rs201604061 0.00036
NM_001267550.2(TTN):c.2599A>G (p.Ser867Gly) rs148631577 0.00036
NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile) rs190421400 0.00036
NM_001267550.2(TTN):c.75361A>G (p.Ile25121Val) rs199508062 0.00036
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=) rs140942979 0.00036
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His) rs149755500 0.00036
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891 0.00036
NM_001378414.1(HDAC4):c.2190G>A (p.Thr730=) rs149067286 0.00036
NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val) rs200075429 0.00036
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421 0.00036
NM_001378615.1(CC2D2A):c.4438-9C>A rs117667651 0.00036
NM_001966.4(EHHADH):c.1093T>G (p.Leu365Val) rs140461295 0.00036
NM_002025.4(AFF2):c.2780G>A (p.Arg927His) rs140927355 0.00036
NM_002335.4(LRP5):c.144C>T (p.Ala48=) rs776920568 0.00036
NM_002693.3(POLG):c.131A>G (p.Gln44Arg) rs757120802 0.00036
NM_002857.4(PEX19):c.402T>C (p.Ser134=) rs139828188 0.00036
NM_003282.4(TNNI2):c.54G>C (p.Leu18=) rs181679318 0.00036
NM_003482.4(KMT2D):c.11037A>G (p.Gln3679=) rs374418866 0.00036
NM_003742.4(ABCB11):c.2907G>A (p.Lys969=) rs201881755 0.00036
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly) rs147822019 0.00036
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln) rs142807436 0.00036
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser) rs141259922 0.00036
NM_004698.4(PRPF3):c.1032A>G (p.Thr344=) rs143350315 0.00036
NM_005476.7(GNE):c.1509C>G (p.Pro503=) rs141172610 0.00036
NM_005477.3(HCN4):c.2181C>T (p.His727=) rs140354126 0.00036
NM_005629.4(SLC6A8):c.1516G>A (p.Asp506Asn) rs201526436 0.00036
NM_006516.4(SLC2A1):c.498C>T (p.Val166=) rs150971143 0.00036
NM_006922.4(SCN3A):c.3087C>G (p.Ala1029=) rs143360102 0.00036
NM_006946.4(SPTBN2):c.1719C>T (p.His573=) rs148207416 0.00036
NM_012463.4(ATP6V0A2):c.522-9G>A rs189175284 0.00036
NM_014780.5(CUL7):c.3432G>A (p.Thr1144=) rs144556973 0.00036
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu) rs201689819 0.00036
NM_017534.6(MYH2):c.3000G>A (p.Lys1000=) rs573063758 0.00036
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=) rs199828744 0.00036
NM_018451.5(CPAP):c.1513G>A (p.Glu505Lys) rs145679691 0.00036
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys) rs200128474 0.00036
NM_020549.5(CHAT):c.1087G>A (p.Glu363Lys) rs75262191 0.00036
NM_020822.3(KCNT1):c.885G>A (p.Ala295=) rs142756900 0.00036
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val) rs115976458 0.00036
NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu) rs150654176 0.00036
NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys) rs150890296 0.00036
NM_022437.3(ABCG8):c.1473A>G (p.Pro491=) rs146046068 0.00036
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157 0.00036
NM_025074.7(FRAS1):c.9627C>T (p.Tyr3209=) rs377369857 0.00036
NM_030973.4(MED25):c.135-6T>G rs199743509 0.00036
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val) rs200789563 0.00036
NM_032119.4(ADGRV1):c.4032C>T (p.Tyr1344=) rs376636949 0.00036
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln) rs200792658 0.00036
NM_032575.3(GLIS2):c.239A>T (p.Asp80Val) rs144447862 0.00036
NM_033028.5(BBS4):c.1140G>A (p.Val380=) rs141511580 0.00036
NM_133379.5(TTN):c.10646G>A (p.Arg3549His) rs148115514 0.00036
NM_133433.4(NIPBL):c.198C>G (p.Val66=) rs146033170 0.00036
NM_138694.4(PKHD1):c.333C>T (p.Phe111=) rs145815264 0.00036
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu) rs144989330 0.00036
NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys) rs149354607 0.00036
NM_182961.4(SYNE1):c.15657+5T>A rs199779021 0.00036
NM_194248.3(OTOF):c.5292-9C>T rs372713647 0.00036
NM_201384.3(PLEC):c.5673C>T (p.Ile1891=) rs191863619 0.00036
NM_201384.3(PLEC):c.8871G>A (p.Lys2957=) rs368326361 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu) rs139968089 0.00035
NM_000208.4(INSR):c.151G>A (p.Glu51Lys) rs140852238 0.00035
NM_000260.4(MYO7A):c.849+7C>G rs370740228 0.00035
NM_000295.5(SERPINA1):c.924C>T (p.Ala308=) rs138611390 0.00035
NM_000381.4(MID1):c.1561C>T (p.Arg521Cys) rs149482288 0.00035
NM_000444.6(PHEX):c.2214G>A (p.Thr738=) rs140742016 0.00035
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_001034853.2(RPGR):c.785C>G (p.Ala262Gly) rs138018739 0.00035
NM_001083961.2(WDR62):c.2976G>A (p.Ser992=) rs757294519 0.00035
NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu) rs373946758 0.00035
NM_001184880.2(PCDH19):c.2617-7A>G rs370859689 0.00035
NM_001193315.2(VIPAS39):c.558A>G (p.Glu186=) rs148623263 0.00035
NM_001242957.3(MAK):c.1405G>A (p.Glu469Lys) rs149006687 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_001267550.2(TTN):c.63577C>T (p.Arg21193Cys) rs376800688 0.00035
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His) rs56071233 0.00035
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg) rs72648205 0.00035
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser) rs183013408 0.00035
NM_001267550.2(TTN):c.96016G>A (p.Val32006Met) rs191786700 0.00035
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=) rs146782397 0.00035
NM_001291303.3(FAT4):c.5367C>T (p.Ile1789=) rs144922340 0.00035
NM_001330260.2(SCN8A):c.2670C>T (p.Ala890=) rs374452942 0.00035
NM_001351132.2(PEX5):c.1707C>T (p.Leu569=) rs151312595 0.00035
NM_001365276.2(TNXB):c.2927G>A (p.Arg976His) rs200771983 0.00035
NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=) rs144941725 0.00035
NM_001378452.1(ITPR1):c.7959C>T (p.Ile2653=) rs371988852 0.00035
NM_001384140.1(PCDH15):c.4320G>A (p.Pro1440=) rs12246234 0.00035
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416 0.00035
NM_002381.5(MATN3):c.792G>A (p.Ala264=) rs201563567 0.00035
NM_004006.3(DMD):c.1095A>C (p.Gln365His) rs1800266 0.00035
NM_004006.3(DMD):c.7321A>C (p.Thr2441Pro) rs146817002 0.00035
NM_004006.3(DMD):c.9564-5A>G rs201390145 0.00035
NM_004385.5(VCAN):c.5859G>T (p.Thr1953=) rs80028865 0.00035
NM_004560.4(ROR2):c.730C>T (p.Arg244Trp) rs148340413 0.00035
NM_004656.4(BAP1):c.1035G>C (p.Gly345=) rs369744075 0.00035
NM_005333.5(HCCS):c.521C>T (p.Ala174Val) rs367601527 0.00035
NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys) rs142542453 0.00035
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr) rs143142641 0.00035
NM_014141.6(CNTNAP2):c.1140T>A (p.Ala380=) rs141439475 0.00035
NM_015102.5(NPHP4):c.3612G>A (p.Pro1204=) rs374003717 0.00035
NM_015629.4(PRPF31):c.540G>A (p.Ser180=) rs148941732 0.00035
NM_017433.5(MYO3A):c.1248A>G (p.Gln416=) rs143749728 0.00035
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) rs377217445 0.00035
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser) rs201319489 0.00035
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile) rs147551342 0.00035
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336 0.00035
NM_022437.3(ABCG8):c.729C>T (p.Leu243=) rs145482605 0.00035
NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu) rs201388114 0.00035
NM_133497.4(KCNV2):c.645G>C (p.Lys215Asn) rs201327014 0.00035
NM_139125.4(MASP1):c.910C>A (p.Leu304Ile) rs145057248 0.00035
NM_144631.6(ZNF513):c.519C>T (p.Ser173=) rs199520071 0.00035
NM_182961.4(SYNE1):c.22137C>T (p.Asp7379=) rs148556501 0.00035
NM_201384.3(PLEC):c.10716C>T (p.Ile3572=) rs34365303 0.00035
NM_201525.4(ADGRG1):c.1356G>A (p.Thr452=) rs151020094 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_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041 0.00034
NM_000059.4(BRCA2):c.322A>C (p.Asn108His) rs80358567 0.00034
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg) rs150226817 0.00034
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_000138.5(FBN1):c.5964C>T (p.Thr1988=) rs113022801 0.00034
NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser) rs201251963 0.00034
NM_000271.5(NPC1):c.180G>T (p.Gln60His) rs145666943 0.00034
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182 0.00034
NM_000350.3(ABCA4):c.4401C>T (p.Ser1467=) rs188775667 0.00034
NM_000414.4(HSD17B4):c.1138A>G (p.Ile380Val) rs137946207 0.00034
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=) rs192301957 0.00034
NM_000426.4(LAMA2):c.4926A>G (p.Thr1642=) rs62421010 0.00034
NM_000441.2(SLC26A4):c.1614+7A>G rs199643344 0.00034
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) rs35003977 0.00034
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val) rs1800091 0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_000501.4(ELN):c.1358-199G>A rs781963901 0.00034
NM_000501.4(ELN):c.647G>T (p.Gly216Val) rs145612009 0.00034
NM_000543.5(SMPD1):c.337C>T (p.Arg113Cys) rs140202512 0.00034
NM_000548.5(TSC2):c.681C>T (p.Cys227=) rs45443205 0.00034
NM_000660.7(TGFB1):c.887G>A (p.Arg296Gln) rs200164212 0.00034
NM_000784.4(CYP27A1):c.891G>T (p.Leu297=) rs144455258 0.00034
NM_001034853.2(RPGR):c.141T>G (p.Ser47=) rs62638631 0.00034
NM_001039141.3(TRIOBP):c.4783C>T (p.Arg1595Cys) rs201117318 0.00034
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00034
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) rs61751446 0.00034
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=) rs201200430 0.00034
NM_001164508.2(NEB):c.18530G>A (p.Arg6177His) rs147159176 0.00034
NM_001257180.2(SLC20A2):c.846C>T (p.Asp282=) rs116122164 0.00034
NM_001267550.2(TTN):c.16515T>C (p.Ser5505=) rs201625116 0.00034
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met) rs199793620 0.00034
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys) rs199615557 0.00034
NM_001267550.2(TTN):c.55449C>T (p.Pro18483=) rs187366691 0.00034
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly) rs199512049 0.00034
NM_001349338.3(FOXP1):c.1762G>A (p.Ala588Thr) rs202173892 0.00034
NM_001367624.2(ZNF469):c.4952A>G (p.Gln1651Arg) rs773925755 0.00034
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile) rs145475623 0.00034
NM_001378615.1(CC2D2A):c.1821T>C (p.Ile607=) rs373296447 0.00034
NM_001848.3(COL6A1):c.2187C>T (p.Asp729=) rs369502543 0.00034
NM_001852.4(COL9A2):c.2058C>T (p.Ile686=) rs115675008 0.00034
NM_002473.6(MYH9):c.4818G>A (p.Ser1606=) rs202132383 0.00034
NM_002906.4(RDX):c.1345-7T>C rs142161673 0.00034
NM_002968.3(SALL1):c.1322C>A (p.Thr441Asn) rs76275412 0.00034
NM_003611.3(OFD1):c.276T>C (p.Ser92=) rs201675886 0.00034
NM_003673.4(TCAP):c.60C>G (p.Ala20=) rs146502276 0.00034
NM_003722.5(TP63):c.678C>T (p.Arg226=) rs61732782 0.00034
NM_003742.4(ABCB11):c.930C>T (p.Phe310=) rs372382608 0.00034
NM_003977.4(AIP):c.517G>A (p.Glu173Lys) rs138902236 0.00034
NM_004006.3(DMD):c.2539A>G (p.Thr847Ala) rs138145424 0.00034
NM_004369.4(COL6A3):c.3088G>A (p.Val1030Met) rs116238578 0.00034
NM_004519.4(KCNQ3):c.2330G>A (p.Arg777Gln) rs201328910 0.00034
NM_004525.3(LRP2):c.2511C>T (p.Ala837=) rs375313914 0.00034
NM_004551.3(NDUFS3):c.628-7C>T rs11039306 0.00034
NM_004994.3(MMP9):c.1591C>T (p.Leu531=) rs141884644 0.00034
NM_005982.4(SIX1):c.402G>A (p.Lys134=) rs151189392 0.00034
NM_006790.3(MYOT):c.120T>A (p.Ile40=) rs139254363 0.00034
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_012448.4(STAT5B):c.1569G>A (p.Arg523=) rs143172354 0.00034
NM_012463.4(ATP6V0A2):c.1458G>A (p.Ser486=) rs146156426 0.00034
NM_013275.6(ANKRD11):c.1133A>G (p.Asn378Ser) rs202203523 0.00034
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) rs200092283 0.00034
NM_014491.4(FOXP2):c.50A>T (p.Gln17Leu) rs201649896 0.00034
NM_014780.5(CUL7):c.2682T>C (p.Ala894=) rs138043979 0.00034
NM_015102.5(NPHP4):c.2811C>T (p.Ser937=) rs758757125 0.00034
NM_016239.4(MYO15A):c.7069G>A (p.Gly2357Ser) rs201540919 0.00034
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=) rs138330966 0.00034
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) rs41272437 0.00034
NM_020223.4(FAM20C):c.1152C>T (p.Ile384=) rs373614292 0.00034
NM_020549.5(CHAT):c.2222G>A (p.Arg741Lys) rs114719193 0.00034
NM_020975.6(RET):c.1158G>A (p.Ala386=) rs373540097 0.00034
NM_024408.4(NOTCH2):c.4973C>T (p.Thr1658Ile) rs142462128 0.00034
NM_024747.6(HPS6):c.1060C>T (p.His354Tyr) rs149692177 0.00034
NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser) rs184814386 0.00034
NM_024757.5(EHMT1):c.271A>T (p.Ile91Leu) rs144949902 0.00034
NM_032119.4(ADGRV1):c.14959G>A (p.Gly4987Arg) rs190988309 0.00034
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr) rs201391886 0.00034
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala) rs104886164 0.00034
NM_133379.5(TTN):c.15193C>T (p.Pro5065Ser) rs200953966 0.00034
NM_133379.5(TTN):c.15575G>A (p.Arg5192Lys) rs62179016 0.00034
NM_144991.3(TSPEAR):c.419C>A (p.Ala140Asp) rs147904376 0.00034
NM_152564.5(VPS13B):c.10521C>T (p.Tyr3507=) rs767239312 0.00034
NM_153033.5(KCTD7):c.273C>T (p.Ser91=) rs139585796 0.00034
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala) rs144797744 0.00034
NM_198525.3(KIF7):c.3021C>T (p.Ile1007=) rs142488318 0.00034
NM_201384.3(PLEC):c.6162C>T (p.His2054=) rs563719398 0.00034
NM_201384.3(PLEC):c.8442C>T (p.Gly2814=) rs186703073 0.00034
NM_203486.3(DLL3):c.677C>G (p.Pro226Arg) rs145191532 0.00034
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr) rs369704754 0.00033
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn) rs118203493 0.00033
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=) rs140609193 0.00033
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_000540.3(RYR1):c.1453A>G (p.Met485Val) rs147723844 0.00033
NM_001110556.2(FLNA):c.4179G>A (p.Glu1393=) rs182074603 0.00033
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) rs121912712 0.00033
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714 0.00033
NM_001128178.3(NPHP1):c.836C>T (p.Thr279Met) rs200201945 0.00033
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln) rs145272777 0.00033
NM_001161352.2(KCNMA1):c.1641C>T (p.Asp547=) rs149647577 0.00033
NM_001267550.2(TTN):c.15986G>A (p.Gly5329Asp) rs202234492 0.00033
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala) rs200213832 0.00033
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly) rs201057307 0.00033
NM_001292063.2(OTOG):c.7742C>T (p.Ala2581Val) rs114417076 0.00033
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro) rs146195955 0.00033
NM_001374353.1(GLI2):c.2251C>T (p.Leu751=) rs200831069 0.00033
NM_001849.4(COL6A2):c.2944A>G (p.Met982Val) rs190664941 0.00033
NM_002076.4(GNS):c.4C>T (p.Arg2Trp) rs200441930 0.00033
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile) rs138059405 0.00033
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_004006.3(DMD):c.10836C>T (p.Ser3612=) rs148590546 0.00033
NM_004369.4(COL6A3):c.9339G>A (p.Lys3113=) rs113422196 0.00033
NM_005045.4(RELN):c.9825C>T (p.Ser3275=) rs149713137 0.00033
NM_006086.4(TUBB3):c.507C>T (p.Val169=) rs373718068 0.00033
NM_006302.3(MOGS):c.499A>C (p.Arg167=) rs371747622 0.00033
NM_006941.4(SOX10):c.753G>A (p.Ser251=) rs376907937 0.00033
NM_014795.4(ZEB2):c.759C>T (p.Arg253=) rs150853991 0.00033
NM_015102.5(NPHP4):c.944C>T (p.Thr315Met) rs200684272 0.00033
NM_015166.4(MLC1):c.598-9C>T rs200463656 0.00033
NM_016239.4(MYO15A):c.1196A>G (p.Tyr399Cys) rs368682932 0.00033
NM_017433.5(MYO3A):c.3932C>G (p.Thr1311Ser) rs146693681 0.00033
NM_017739.4(POMGNT1):c.549C>T (p.Phe183=) rs140724142 0.00033
NM_018136.5(ASPM):c.9890C>A (p.Ser3297Tyr) rs201033114 0.00033
NM_022436.3(ABCG5):c.442C>T (p.Leu148=) rs143444046 0.00033
NM_032382.5(COG8):c.1741C>A (p.Pro581Thr) rs548002506 0.00033
NM_153240.5(NPHP3):c.3500G>A (p.Arg1167His) rs111727307 0.00033
NM_170699.3(GPBAR1):c.562G>A (p.Val188Met) rs199637113 0.00033
NM_201384.3(PLEC):c.7584G>A (p.Gln2528=) rs372858742 0.00033
NM_201384.3(PLEC):c.8315G>A (p.Arg2772His) rs201916690 0.00033
NM_201525.4(ADGRG1):c.14C>T (p.Ser5Leu) rs147879224 0.00033
NM_000035.4(ALDOB):c.681C>T (p.Thr227=) rs61757689 0.00032
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759 0.00032
NM_000214.3(JAG1):c.2604T>C (p.Ser868=) rs138189639 0.00032
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val) rs199561332 0.00032
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=) rs377388669 0.00032
NM_000264.5(PTCH1):c.1913G>A (p.Arg638His) rs145766839 0.00032
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00032
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_000392.5(ABCC2):c.339G>A (p.Leu113=) rs151304543 0.00032
NM_000443.4(ABCB4):c.1952C>A (p.Thr651Asn) rs45476795 0.00032
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg) rs200588235 0.00032
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423 0.00032
NM_001191061.2(SLC25A22):c.413-8G>C rs376015598 0.00032
NM_001195553.2(DCX):c.856G>T (p.Ala286Ser) rs149495971 0.00032
NM_001267550.2(TTN):c.156C>T (p.Pro52=) rs72647842 0.00032
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) rs72648990 0.00032
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=) rs184863287 0.00032
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala) rs201381085 0.00032
NM_001267550.2(TTN):c.72723C>G (p.Val24241=) rs372701206 0.00032
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser) rs369941201 0.00032
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val) rs201490050 0.00032
NM_001267550.2(TTN):c.9789C>T (p.Ser3263=) rs138313387 0.00032
NM_001278116.2(L1CAM):c.2657G>A (p.Arg886Gln) rs142603269 0.00032
NM_001360.3(DHCR7):c.927C>A (p.Gly309=) rs149974099 0.00032
NM_001365536.1(SCN9A):c.2964C>T (p.Leu988=) rs201430964 0.00032
NM_001374385.1(ATP8B1):c.1438C>T (p.Arg480Trp) rs142231389 0.00032
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094 0.00032
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile) rs373211307 0.00032
NM_001384474.1(LOXHD1):c.4082G>A (p.Arg1361His) rs374474061 0.00032
NM_001457.4(FLNB):c.4061+4G>A rs370061963 0.00032
NM_001848.3(COL6A1):c.666C>T (p.Arg222=) rs372581026 0.00032
NM_001849.4(COL6A2):c.*4C>T rs370155138 0.00032
NM_001849.4(COL6A2):c.225G>T (p.Pro75=) rs143678454 0.00032
NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys) rs143396225 0.00032
NM_002473.6(MYH9):c.1491C>T (p.Ile497=) rs146487404 0.00032
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val) rs551708243 0.00032
NM_002693.3(POLG):c.3652C>T (p.Leu1218=) rs146301349 0.00032
NM_003742.4(ABCB11):c.1248C>A (p.Ile416=) rs183390670 0.00032
NM_003742.4(ABCB11):c.1254T>C (p.Gly418=) rs140138979 0.00032
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys) rs727503828 0.00032
NM_004006.3(DMD):c.8767G>T (p.Ala2923Ser) rs116283249 0.00032
NM_004006.3(DMD):c.94-9T>A rs3764764 0.00032
NM_004385.5(VCAN):c.3957C>A (p.His1319Gln) rs143393049 0.00032
NM_004595.5(SMS):c.978G>A (p.Ser326=) rs150564614 0.00032
NM_005199.5(CHRNG):c.1381G>A (p.Gly461Arg) rs143800157 0.00032
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu) rs145061343 0.00032
NM_006922.4(SCN3A):c.5889T>C (p.Ser1963=) rs146624492 0.00032
NM_014324.6(AMACR):c.247+8C>G rs779779299 0.00032
NM_014425.5(INVS):c.118C>G (p.Leu40Val) rs148219510 0.00032
NM_014425.5(INVS):c.2278T>G (p.Ser760Ala) rs146901872 0.00032
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr) rs144860227 0.00032
NM_016239.4(MYO15A):c.730G>A (p.Asp244Asn) rs199899548 0.00032
NM_020822.3(KCNT1):c.1628A>G (p.Gln543Arg) rs200173000 0.00032
NM_021072.4(HCN1):c.240C>A (p.Gly80=) rs373664268 0.00032
NM_021098.3(CACNA1H):c.1844C>T (p.Thr615Met) rs368976749 0.00032
NM_021098.3(CACNA1H):c.3555G>A (p.Ala1185=) rs370039255 0.00032
NM_022367.4(SEMA4A):c.2167C>T (p.Arg723Cys) rs199933282 0.00032
NM_024592.5(SRD5A3):c.51G>T (p.Ala17=) rs201123766 0.00032
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) rs36111204 0.00032
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser) rs191613017 0.00032
NM_032119.4(ADGRV1):c.12207C>T (p.Thr4069=) rs202066007 0.00032
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp) rs368822172 0.00032
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=) rs149176010 0.00032
NM_153033.5(KCTD7):c.387C>T (p.Ala129=) rs140932942 0.00032
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) rs147143947 0.00032
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln) rs141586001 0.00032
NM_198239.2(CCN6):c.219A>T (p.Gly73=) rs139375158 0.00032
NM_198525.3(KIF7):c.516G>A (p.Glu172=) rs199959946 0.00032
NM_201384.3(PLEC):c.5930C>T (p.Ala1977Val) rs398123401 0.00032
NM_201384.3(PLEC):c.6495G>A (p.Ala2165=) rs201462310 0.00032
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr) rs138867099 0.00031
NM_000088.4(COL1A1):c.1002+10G>T rs368316440 0.00031
NM_000142.5(FGFR3):c.2396C>T (p.Pro799Leu) rs150452037 0.00031
NM_000180.4(GUCY2D):c.921C>T (p.Ala307=) rs148136213 0.00031
NM_000214.3(JAG1):c.82G>C (p.Val28Leu) rs142855305 0.00031
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020 0.00031
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000540.3(RYR1):c.13547A>G (p.Glu4516Gly) rs149984626 0.00031
NM_000540.3(RYR1):c.8616+7G>A rs200023171 0.00031
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294 0.00031
NM_000719.7(CACNA1C):c.4641C>T (p.Asn1547=) rs202194703 0.00031
NM_000780.4(CYP7A1):c.1059G>A (p.Ser353=) rs144531506 0.00031
NM_001003722.2(GLE1):c.1641T>C (p.Tyr547=) rs77053118 0.00031
NM_001039213.4(CEACAM16):c.1125G>A (p.Ala375=) rs373050209 0.00031
NM_001039213.4(CEACAM16):c.589G>A (p.Gly197Ser) rs367891074 0.00031
NM_001077365.2(POMT1):c.855+6T>C rs200692465 0.00031
NM_001083961.2(WDR62):c.203T>C (p.Ile68Thr) rs148615988 0.00031
NM_001110219.3(GJB6):c.177A>G (p.Gly59=) rs371123633 0.00031
NM_001110556.2(FLNA):c.1691+7C>A rs199565118 0.00031
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr) rs34061568 0.00031
NM_001161352.2(KCNMA1):c.3148-8T>C rs79155047 0.00031
NM_001252024.2(TRPM1):c.2701-10T>A rs201747375 0.00031
NM_001267550.2(TTN):c.104277G>A (p.Lys34759=) rs377391143 0.00031
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile) rs146000949 0.00031
NM_001267550.2(TTN):c.14898T>C (p.Ala4966=) rs370105333 0.00031
NM_001267550.2(TTN):c.26019C>T (p.His8673=) rs370266918 0.00031
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr) rs181189778 0.00031
NM_001267550.2(TTN):c.63273T>C (p.Asp21091=) rs374168580 0.00031
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln) rs185620750 0.00031
NM_001267550.2(TTN):c.70491C>T (p.Thr23497=) rs372382315 0.00031
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=) rs139953862 0.00031
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val) rs72648221 0.00031
NM_001267550.2(TTN):c.86526T>G (p.Val28842=) rs72648226 0.00031
NM_001267550.2(TTN):c.93215G>A (p.Arg31072His) rs141817409 0.00031
NM_001267550.2(TTN):c.93524G>A (p.Arg31175His) rs72648251 0.00031
NM_001278116.2(L1CAM):c.630C>T (p.His210=) rs28933683 0.00031
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_001371623.1(TCOF1):c.4099A>C (p.Lys1367Gln) rs201234047 0.00031
NM_001457.4(FLNB):c.7254C>T (p.Ser2418=) rs563382903 0.00031
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) rs145172612 0.00031
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly) rs149338158 0.00031
NM_001848.3(COL6A1):c.531C>T (p.Asn177=) rs767176038 0.00031
NM_001849.4(COL6A2):c.528G>A (p.Gln176=) rs377585812 0.00031
NM_001851.6(COL9A1):c.333C>T (p.Tyr111=) rs141047907 0.00031
NM_001854.4(COL11A1):c.2014G>A (p.Asp672Asn) rs143663917 0.00031
NM_002335.4(LRP5):c.1818G>A (p.Ala606=) rs148603249 0.00031
NM_003482.4(KMT2D):c.5124A>G (p.Thr1708=) rs374724784 0.00031
NM_003659.4(AGPS):c.214A>G (p.Thr72Ala) rs560217758 0.00031
NM_003722.5(TP63):c.1827A>G (p.Glu609=) rs147538847 0.00031
NM_004086.3(COCH):c.272G>A (p.Arg91Gln) rs188283330 0.00031
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile) rs200018416 0.00031
NM_004369.4(COL6A3):c.4399A>G (p.Asn1467Asp) rs138049094 0.00031
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr) rs114322958 0.00031
NM_004369.4(COL6A3):c.6654G>A (p.Pro2218=) rs147537071 0.00031
NM_004369.4(COL6A3):c.776C>T (p.Ala259Val) rs149924028 0.00031
NM_004817.4(TJP2):c.3160A>G (p.Thr1054Ala) rs57728054 0.00031
NM_005422.4(TECTA):c.3406G>C (p.Asp1136His) rs147890616 0.00031
NM_006182.4(DDR2):c.720C>T (p.Asp240=) rs141801107 0.00031
NM_006432.5(NPC2):c.212A>G (p.Lys71Arg) rs142075589 0.00031
NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val) rs148065361 0.00031
NM_012301.4(MAGI2):c.2131C>A (p.Pro711Thr) rs144078604 0.00031
NM_014780.5(CUL7):c.3273G>A (p.Ser1091=) rs144269675 0.00031
NM_015922.3(NSDHL):c.773C>T (p.Ser258Leu) rs373717198 0.00031
NM_018136.5(ASPM):c.2968G>A (p.Asp990Asn) rs142537154 0.00031
NM_020436.5(SALL4):c.1630C>T (p.Pro544Ser) rs150402866 0.00031
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) rs370074117 0.00031
NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys) rs148018494 0.00031
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_032806.6(POMGNT2):c.780A>G (p.Ser260=) rs371749889 0.00031
NM_080916.3(DGUOK):c.256-7C>T rs199531052 0.00031
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter) rs142371860 0.00031
NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys) rs143578863 0.00031
NM_198525.3(KIF7):c.3665-5G>A rs79532879 0.00031
NM_201384.3(PLEC):c.2536G>A (p.Gly846Ser) rs189233521 0.00031
NM_000023.4(SGCA):c.189C>T (p.His63=) rs373770886 0.00030
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser) rs55870064 0.00030
NM_000093.5(COL5A1):c.3906+10C>T rs183881247 0.00030
NM_000104.4(CYP1B1):c.155C>T (p.Pro52Leu) rs201824781 0.00030
NM_000260.4(MYO7A):c.731G>A (p.Arg244His) rs121965081 0.00030
NM_000271.5(NPC1):c.3717C>T (p.His1239=) rs34624018 0.00030
NM_000368.5(TSC1):c.1977G>A (p.Ala659=) rs35958226 0.00030
NM_000381.4(MID1):c.1988C>T (p.Thr663Ile) rs138558359 0.00030
NM_000414.4(HSD17B4):c.1670A>T (p.Lys557Met) rs73790880 0.00030
NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro) rs397516423 0.00030
NM_001008537.3(NEXMIF):c.133G>A (p.Ala45Thr) rs199960807 0.00030
NM_001039141.3(TRIOBP):c.5853G>A (p.Leu1951=) rs55821172 0.00030
NM_001048166.1(STIL):c.1005A>G (p.Glu335=) rs149296029 0.00030
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122 0.00030
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=) rs16010 0.00030
NM_001128205.2(SULF1):c.2440G>A (p.Val814Met) rs117639561 0.00030
NM_001130987.2(DYSF):c.5478C>T (p.Val1826=) rs145143725 0.00030
NM_001159699.2(FHL1):c.331C>T (p.Arg111Trp) rs150911744 0.00030
NM_001200.4(BMP2):c.891G>A (p.Lys297=) rs147542801 0.00030
NM_001267550.2(TTN):c.32071G>A (p.Ala10691Thr) rs371452173 0.00030
NM_001267550.2(TTN):c.54207A>G (p.Pro18069=) rs372686070 0.00030
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn) rs72646870 0.00030
NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala) rs372782502 0.00030
NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr) rs180828370 0.00030
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu) rs200181804 0.00030
NM_001267550.2(TTN):c.80271C>T (p.Val26757=) rs199875474 0.00030
NM_001267550.2(TTN):c.90991C>T (p.Pro30331Ser) rs75022916 0.00030
NM_001267550.2(TTN):c.94863C>T (p.His31621=) rs373871146 0.00030
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys) rs202064385 0.00030
NM_001278116.2(L1CAM):c.1547-4T>A rs200148275 0.00030
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys) rs141525226 0.00030
NM_001379081.2(FREM1):c.6021C>G (p.Pro2007=) rs200987019 0.00030
NM_001927.4(DES):c.924C>T (p.Asn308=) rs578191306 0.00030
NM_002334.4(LRP4):c.2815-6T>G rs372210790 0.00030
NM_003392.7(WNT5A):c.417C>T (p.Tyr139=) rs371576999 0.00030
NM_004333.6(BRAF):c.2235A>G (p.Leu745=) rs56046546 0.00030
NM_004369.4(COL6A3):c.1478T>C (p.Val493Ala) rs116794756 0.00030
NM_004369.4(COL6A3):c.8193A>C (p.Pro2731=) rs140441798 0.00030
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504 0.00030
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994 0.00030
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_014762.4(DHCR24):c.102C>T (p.Phe34=) rs144149165 0.00030
NM_015102.5(NPHP4):c.909C>T (p.Val303=) rs201488441 0.00030
NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met) rs184436336 0.00030
NM_016356.5(DCDC2):c.478A>C (p.Arg160=) rs201204772 0.00030
NM_017617.5(NOTCH1):c.1100-8C>T rs545088400 0.00030
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_020779.4(WDR35):c.2964+10C>A rs201207790 0.00030
NM_031220.4(PITPNM3):c.1688C>T (p.Thr563Met) rs139119218 0.00030
NM_054027.6(ANKH):c.1141+5A>G rs187972211 0.00030
NM_147127.5(EVC2):c.2304G>C (p.Val768=) rs139936564 0.00030
NM_182961.4(SYNE1):c.11343C>T (p.Gly3781=) rs150121030 0.00030
NM_201384.3(PLEC):c.174+10G>A rs181850748 0.00030
NM_201384.3(PLEC):c.4469G>A (p.Arg1490Gln) rs371290504 0.00030
NM_000214.3(JAG1):c.2043G>A (p.Thr681=) rs151291264 0.00029
NM_000256.3(MYBPC3):c.3279C>T (p.Gly1093=) rs36212064 0.00029
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met) rs201203036 0.00029
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714 0.00029
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=) rs397516327 0.00029
NM_000271.5(NPC1):c.3246-8C>T rs145227129 0.00029
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg) rs62635032 0.00029
NM_000275.3(OCA2):c.37G>A (p.Gly13Ser) rs201554429 0.00029
NM_000287.4(PEX6):c.2700C>T (p.Asn900=) rs533766104 0.00029
NM_000321.3(RB1):c.929G>A (p.Gly310Glu) rs200844292 0.00029
NM_000325.6(PITX2):c.639A>T (p.Ser213=) rs141176394 0.00029
NM_000337.6(SGCD):c.510G>A (p.Glu170=) rs368838376 0.00029
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036 0.00029
NM_000368.5(TSC1):c.346T>G (p.Leu116Val) rs199620268 0.00029
NM_000443.4(ABCB4):c.2395-3T>C rs377462787 0.00029
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=) rs1800121 0.00029
NM_000515.5(GH1):c.597C>G (p.Val199=) rs142704768 0.00029
NM_000523.4(HOXD13):c.135C>T (p.Ser45=) rs757175860 0.00029
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00029
NM_000540.3(RYR1):c.3381C>T (p.Arg1127=) rs200780880 0.00029
NM_000540.3(RYR1):c.5235G>A (p.Thr1745=) rs149471411 0.00029
NM_000548.5(TSC2):c.5068+9G>A rs45445593 0.00029
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr) rs77710085 0.00029
NM_000834.5(GRIN2B):c.2931C>G (p.Asp977Glu) rs147956755 0.00029
NM_001018113.3(FANCB):c.1371C>T (p.Val457=) rs149695930 0.00029
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00029
NM_001048166.1(STIL):c.152+4T>C rs368201717 0.00029
NM_001077365.2(POMT1):c.1698+10C>A rs184131819 0.00029
NM_001077525.3(MTMR14):c.1067C>T (p.Thr356Met) rs183134138 0.00029
NM_001110556.2(FLNA):c.2023-8C>T rs587780335 0.00029
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635 0.00029
NM_001127222.2(CACNA1A):c.5133+10G>A rs369033909 0.00029
NM_001145809.2(MYH14):c.5452C>T (p.Arg1818Cys) rs377096949 0.00029
NM_001159773.2(CANT1):c.433G>T (p.Val145Leu) rs140112462 0.00029
NM_001164508.2(NEB):c.23013C>T (p.Ser7671=) rs370873040 0.00029
NM_001164508.2(NEB):c.5696C>T (p.Thr1899Ile) rs202234374 0.00029
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr) rs200237973 0.00029
NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile) rs188917199 0.00029
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile) rs376768790 0.00029
NM_001267550.2(TTN):c.27498G>A (p.Ser9166=) rs372528823 0.00029
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met) rs200593368 0.00029
NM_001267550.2(TTN):c.4208G>C (p.Arg1403Thr) rs531590921 0.00029
NM_001267550.2(TTN):c.4645+8G>T rs144456585 0.00029
NM_001267550.2(TTN):c.62317C>A (p.Leu20773Met) rs375173874 0.00029
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr) rs201804005 0.00029
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val) rs72646898 0.00029
NM_001267550.2(TTN):c.75504T>G (p.Ser25168Arg) rs375204371 0.00029
NM_001267550.2(TTN):c.75682C>T (p.Pro25228Ser) rs377226540 0.00029
NM_001267550.2(TTN):c.88306+8T>C rs369690199 0.00029
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys) rs200513274 0.00029
NM_001276345.2(TNNT2):c.41+16A>G rs370729174 0.00029
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=) rs150682314 0.00029
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148 0.00029
NM_001366722.1(GRIP1):c.1199-7C>G rs200313638 0.00029
NM_001371333.1(DIABLO):c.50+5C>T rs372776075 0.00029
NM_001378452.1(ITPR1):c.3921C>T (p.His1307=) rs61757108 0.00029
NM_001378609.3(OTOGL):c.4518C>T (p.Asp1506=) rs187941815 0.00029
NM_001378615.1(CC2D2A):c.2844G>A (p.Arg948=) rs182369056 0.00029
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
NM_001848.3(COL6A1):c.1399-3C>T rs200095847 0.00029
NM_001849.4(COL6A2):c.1522-9C>T rs371576207 0.00029
NM_001851.6(COL9A1):c.2011G>A (p.Glu671Lys) rs141825151 0.00029
NM_001854.4(COL11A1):c.1489-5C>A rs370997745 0.00029
NM_001966.4(EHHADH):c.6C>G (p.Ala2=) rs141515588 0.00029
NM_002180.3(IGHMBP2):c.855G>A (p.Ala285=) rs147409148 0.00029
NM_002427.4(MMP13):c.663G>A (p.Ala221=) rs143331971 0.00029
NM_002617.4(PEX10):c.316C>T (p.Leu106=) rs140340426 0.00029
NM_002834.5(PTPN11):c.48A>G (p.Ala16=) rs372736227 0.00029
NM_003322.6(TULP1):c.327C>G (p.Ala109=) rs568898016 0.00029
NM_003482.4(KMT2D):c.840-6C>T rs182926808 0.00029
NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val) rs118109635 0.00029
NM_004287.5(GOSR2):c.29+8C>T rs573306680 0.00029
NM_004369.4(COL6A3):c.6618C>T (p.Pro2206=) rs201814201 0.00029
NM_004369.4(COL6A3):c.9498C>T (p.Leu3166=) rs150376179 0.00029
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=) rs146168040 0.00029
NM_004380.3(CREBBP):c.3985C>T (p.Leu1329=) rs149055008 0.00029
NM_004727.3(SLC24A1):c.2577C>T (p.Ser859=) rs371059164 0.00029
NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val) rs199767035 0.00029
NM_005045.4(RELN):c.5643G>A (p.Leu1881=) rs141387255 0.00029
NM_005045.4(RELN):c.8843+3A>C rs200124755 0.00029
NM_005378.6(MYCN):c.710C>T (p.Pro237Leu) rs767711936 0.00029
NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr) rs143274889 0.00029
NM_005802.5(TOPORS):c.2115T>C (p.Thr705=) rs372292364 0.00029
NM_006005.3(WFS1):c.325C>T (p.His109Tyr) rs112871383 0.00029
NM_006019.4(TCIRG1):c.2163C>T (p.Ile721=) rs145718040 0.00029
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_014141.6(CNTNAP2):c.387A>G (p.Gln129=) rs150607716 0.00029
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val) rs113994012 0.00029
NM_014795.4(ZEB2):c.2601G>A (p.Lys867=) rs139369265 0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_015311.3(OBSL1):c.1599G>A (p.Thr533=) rs149009269 0.00029
NM_016729.3(FOLR1):c.157T>C (p.Leu53=) rs143413500 0.00029
NM_017553.3(INO80):c.1833C>T (p.Phe611=) rs147454171 0.00029
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln) rs202112856 0.00029
NM_017780.4(CHD7):c.4437G>A (p.Gly1479=) rs41265246 0.00029
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser) rs202039728 0.00029
NM_019098.5(CNGB3):c.912C>T (p.Val304=) rs117806701 0.00029
NM_021098.3(CACNA1H):c.4488G>A (p.Ser1496=) rs377112179 0.00029
NM_022042.4(SLC26A1):c.1612C>T (p.Arg538Trp) rs143381873 0.00029
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055 0.00029
NM_022464.5(SIL1):c.984C>T (p.Leu328=) rs368666457 0.00029
NM_024408.4(NOTCH2):c.7086C>T (p.Asp2362=) rs150657714 0.00029
NM_032119.4(ADGRV1):c.7569A>G (p.Thr2523=) rs373352597 0.00029
NM_033641.4(COL4A6):c.726A>C (p.Pro242=) rs149989161 0.00029
NM_080605.4(B3GALT6):c.834G>A (p.Thr278=) rs368078922 0.00029
NM_130837.3(OPA1):c.921C>T (p.Asp307=) rs147242797 0.00029
NM_133379.5(TTN):c.12204C>T (p.Gly4068=) rs144330952 0.00029
NM_133379.5(TTN):c.13123G>T (p.Ala4375Ser) rs72647902 0.00029
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg) rs142304137 0.00029
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu) rs150597050 0.00029
NM_138694.4(PKHD1):c.4266G>A (p.Arg1422=) rs146468152 0.00029
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266 0.00029
NM_176824.3(BBS7):c.1158A>G (p.Thr386=) rs146617227 0.00029
NM_182914.3(SYNE2):c.12043T>C (p.Tyr4015His) rs75665958 0.00029
NM_182914.3(SYNE2):c.7128A>G (p.Pro2376=) rs117423703 0.00029
NM_182931.3(KMT2E):c.3875C>T (p.Pro1292Leu) rs144839449 0.00029
NM_182961.4(SYNE1):c.18870C>T (p.Ser6290=) rs138173087 0.00029
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln) rs150387338 0.00029
NM_182961.4(SYNE1):c.24660C>T (p.His8220=) rs150811468 0.00029
NM_198129.4(LAMA3):c.7505A>G (p.Asn2502Ser) rs139823161 0.00029
NM_201384.3(PLEC):c.1977+7G>A rs184363750 0.00029
NM_201384.3(PLEC):c.2736C>G (p.Ala912=) rs558031489 0.00029
NM_201384.3(PLEC):c.3831C>T (p.Asn1277=) rs202217053 0.00029
NM_201384.3(PLEC):c.4524G>A (p.Gln1508=) rs370168097 0.00029
NM_201384.3(PLEC):c.6062C>T (p.Ala2021Val) rs367715805 0.00029
NM_201525.4(ADGRG1):c.97C>T (p.Arg33Cys) rs776480483 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000093.5(COL5A1):c.3474+7C>T rs550497696 0.00028
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000156.6(GAMT):c.279C>T (p.Asp93=) rs144630886 0.00028
NM_000232.5(SGCB):c.496A>G (p.Ile166Val) rs138877636 0.00028
NM_000255.4(MMUT):c.461G>A (p.Arg154His) rs142068898 0.00028
NM_000275.3(OCA2):c.45G>A (p.Pro15=) rs202091837 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598 0.00028
NM_000843.4(GRM6):c.1455C>T (p.Gly485=) rs149519053 0.00028
NM_001005361.3(DNM2):c.645C>T (p.Asp215=) rs148900299 0.00028
NM_001025295.3(IFITM5):c.41C>T (p.Thr14Met) rs200046984 0.00028
NM_001039141.3(TRIOBP):c.483G>A (p.Glu161=) rs368119524 0.00028
NM_001102564.3(IFT43):c.296-5600G>C rs189153179 0.00028
NM_001110556.2(FLNA):c.2178C>T (p.Asn726=) rs371501734 0.00028
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870 0.00028
NM_001111125.3(IQSEC2):c.222G>C (p.Arg74=) rs781805662 0.00028
NM_001127644.2(GABRA1):c.441G>T (p.Arg147=) rs190024862 0.00028
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=) rs34654141 0.00028
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=) rs148697028 0.00028
NM_001134407.3(GRIN2A):c.1410T>G (p.Thr470=) rs372058698 0.00028
NM_001170629.2(CHD8):c.6232C>T (p.Leu2078=) rs188900504 0.00028
NM_001171.6(ABCC6):c.496C>T (p.Arg166Cys) rs201766106 0.00028
NM_001193315.2(VIPAS39):c.504+9A>G rs371762531 0.00028
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu) rs185962498 0.00028
NM_001267550.2(TTN):c.21993T>C (p.Pro7331=) rs373223049 0.00028
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile) rs202160275 0.00028
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=) rs72677223 0.00028
NM_001267550.2(TTN):c.53226T>C (p.Tyr17742=) rs202200861 0.00028
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala) rs200689750 0.00028
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr) rs146941600 0.00028
NM_001267550.2(TTN):c.75762G>T (p.Val25254=) rs374003257 0.00028
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=) rs368686031 0.00028
NM_001278116.2(L1CAM):c.3192G>T (p.Ser1064=) rs142563956 0.00028
NM_001278116.2(L1CAM):c.984C>T (p.Thr328=) rs200638763 0.00028
NM_001291867.2(NHS):c.513C>T (p.Leu171=) rs398124610 0.00028
NM_001371986.1(UNC80):c.691G>A (p.Ala231Thr) rs144011305 0.00028
NM_001849.4(COL6A2):c.2585G>A (p.Arg862Gln) rs367658663 0.00028
NM_002437.5(MPV17):c.156G>A (p.Leu52=) rs142493907 0.00028
NM_004369.4(COL6A3):c.1623C>T (p.Ala541=) rs114144694 0.00028
NM_005378.6(MYCN):c.658G>T (p.Ala220Ser) rs745414155 0.00028
NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=) rs369899077 0.00028
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657 0.00028
NM_006031.6(PCNT):c.688C>T (p.Arg230Cys) rs143560718 0.00028
NM_006790.3(MYOT):c.617G>A (p.Gly206Asp) rs151094883 0.00028
NM_014014.5(SNRNP200):c.6082A>G (p.Ser2028Gly) rs766856664 0.00028
NM_015102.5(NPHP4):c.138C>T (p.Gly46=) rs201069164 0.00028
NM_015102.5(NPHP4):c.3705C>T (p.Arg1235=) rs199925943 0.00028
NM_016239.4(MYO15A):c.2225G>T (p.Arg742Leu) rs772776336 0.00028
NM_022124.6(CDH23):c.8886C>T (p.Asn2962=) rs376881824 0.00028
NM_022464.5(SIL1):c.1167C>T (p.Pro389=) rs199890503 0.00028
NM_130837.3(OPA1):c.2088G>A (p.Ala696=) rs138114609 0.00028
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His) rs80358359 0.00028
NM_138694.4(PKHD1):c.5235C>T (p.Phe1745=) rs187667255 0.00028
NM_144997.7(FLCN):c.1149C>T (p.Leu383=) rs150752548 0.00028
NM_170707.4(LMNA):c.192C>T (p.Thr64=) rs137969290 0.00028
NM_201384.3(PLEC):c.11036C>T (p.Ala3679Val) rs200060757 0.00028
NM_207346.3(TSEN54):c.984T>C (p.Ala328=) rs776960594 0.00028
NM_000023.4(SGCA):c.662G>A (p.Arg221His) rs138254713 0.00027
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_000106.5(CYP2D6):c.971A>C (p.His324Pro) rs5030867 0.00027
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg) rs199875457 0.00027
NM_000271.5(NPC1):c.1011G>T (p.Arg337=) rs147795644 0.00027
NM_000388.4(CASR):c.1110G>A (p.Val370=) rs150412204 0.00027
NM_000443.4(ABCB4):c.3402C>T (p.Asp1134=) rs371394487 0.00027
NM_000744.7(CHRNA4):c.1560C>T (p.Leu520=) rs142646795 0.00027
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile) rs149101812 0.00027
NM_001127649.3(PEX26):c.318C>G (p.Val106=) rs142072315 0.00027
NM_001145809.2(MYH14):c.820A>G (p.Ile274Val) rs200424400 0.00027
NM_001199799.2(ILDR1):c.1377C>T (p.His459=) rs201105694 0.00027
NM_001267550.2(TTN):c.102696C>T (p.Val34232=) rs202180775 0.00027
NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser) rs200866883 0.00027
NM_001267550.2(TTN):c.33172+4G>A rs756475184 0.00027
NM_001267550.2(TTN):c.41330-7T>A rs373636988 0.00027
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 0.00027
NM_001267550.2(TTN):c.57646A>G (p.Ile19216Val) rs374058726 0.00027
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr) rs202012910 0.00027
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr) rs183276016 0.00027
NM_001360.3(DHCR7):c.139C>T (p.Leu47=) rs140721259 0.00027
NM_001384140.1(PCDH15):c.2908G>A (p.Val970Ile) rs138338096 0.00027
NM_001384474.1(LOXHD1):c.4031G>T (p.Cys1344Phe) rs368870055 0.00027
NM_001384732.1(CPLANE1):c.3381G>C (p.Ser1127=) rs566190241 0.00027
NM_003611.3(OFD1):c.54A>G (p.Glu18=) rs147114577 0.00027
NM_004006.3(DMD):c.9804A>G (p.Gln3268=) rs12690372 0.00027
NM_004369.4(COL6A3):c.7029+10C>T rs376525317 0.00027
NM_004369.4(COL6A3):c.7359G>A (p.Glu2453=) rs114199044 0.00027
NM_005559.4(LAMA1):c.6845T>C (p.Ile2282Thr) rs146148365 0.00027
NM_006432.5(NPC2):c.450T>C (p.His150=) rs374489111 0.00027
NM_006445.4(PRPF8):c.5506T>C (p.Leu1836=) rs147958141 0.00027
NM_013382.7(POMT2):c.66C>T (p.Gly22=) rs200670377 0.00027
NM_014319.5(LEMD3):c.1330C>G (p.Pro444Ala) rs144127577 0.00027
NM_018136.5(ASPM):c.8966A>G (p.Tyr2989Cys) rs149690383 0.00027
NM_020381.4(PDSS2):c.1046G>A (p.Arg349Gln) rs201388841 0.00027
NM_022124.6(CDH23):c.3301A>G (p.Ile1101Val) rs199510686 0.00027
NM_030665.4(RAI1):c.4043C>T (p.Ala1348Val) rs143396390 0.00027
NM_032119.4(ADGRV1):c.14005T>C (p.Phe4669Leu) rs199792315 0.00027
NM_032119.4(ADGRV1):c.3022+8T>C rs375286987 0.00027
NM_032322.4(RNF135):c.1009G>A (p.Asp337Asn) rs148682566 0.00027
NM_033380.3(COL4A5):c.3023A>G (p.Lys1008Arg) rs142929745 0.00027
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile) rs56239539 0.00027
NM_144672.4(OTOA):c.921G>A (p.Ala307=) rs12051473 0.00027
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu) rs188146577 0.00027
NM_182961.4(SYNE1):c.9420G>A (p.Ala3140=) rs188913729 0.00027
NM_194248.3(OTOF):c.3939G>A (p.Ala1313=) rs149566576 0.00027
NM_201384.3(PLEC):c.10499G>A (p.Arg3500His) rs201387815 0.00027
NM_201384.3(PLEC):c.5487C>T (p.Ala1829=) rs781998103 0.00027
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474 0.00026
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 0.00026
NM_000059.4(BRCA2):c.516+14C>T rs182828913 0.00026
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781 0.00026
NM_000091.5(COL4A3):c.2848G>A (p.Val950Ile) rs200044988 0.00026
NM_000117.3(EMD):c.646G>A (p.Gly216Arg) rs147920229 0.00026
NM_000138.5(FBN1):c.4443C>T (p.Ser1481=) rs145040593 0.00026
NM_000138.5(FBN1):c.5423-4G>A rs377036485 0.00026
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882 0.00026
NM_000152.5(GAA):c.2332-10C>G rs373606162 0.00026
NM_000152.5(GAA):c.2736G>A (p.Ala912=) rs142472738 0.00026
NM_000152.5(GAA):c.32G>A (p.Arg11Gln) rs138812846 0.00026
NM_000218.3(KCNQ1):c.386+14C>T rs370023636 0.00026
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) rs397515922 0.00026
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966 0.00026
NM_000287.4(PEX6):c.1884+3G>A rs377041406 0.00026
NM_000287.4(PEX6):c.306G>T (p.Ala102=) rs727504083 0.00026
NM_000335.5(SCN5A):c.5870G>A (p.Arg1957Gln) rs199473331 0.00026
NM_000388.4(CASR):c.885C>T (p.Ala295=) rs147307274 0.00026
NM_000392.5(ABCC2):c.3057G>C (p.Gln1019His) rs144521346 0.00026
NM_000393.5(COL5A2):c.322+8T>C rs372227642 0.00026
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501 0.00026
NM_000451.4(SHOX):c.86A>C (p.Lys29Thr) rs146304983 0.00026
NM_000478.6(ALPL):c.1002C>T (p.Gly334=) rs370122334 0.00026
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr) rs141723617 0.00026
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328 0.00026
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=) rs45475501 0.00026
NM_000553.6(WRN):c.1530A>T (p.Glu510Asp) rs149565907 0.00026
NM_001035.3(RYR2):c.8831-9A>C rs187977513 0.00026
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=) rs138902646 0.00026
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=) rs370607340 0.00026
NM_001101426.4(CRPPA):c.999T>C (p.Asp333=) rs376909665 0.00026
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=) rs150093305 0.00026
NM_001130987.2(DYSF):c.2217-11G>A rs200853014 0.00026
NM_001136193.2(FASTKD2):c.882-3C>T rs41272661 0.00026
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile) rs370053963 0.00026
NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=) rs377697825 0.00026
NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val) rs199804623 0.00026
NM_001252024.2(TRPM1):c.2485G>A (p.Glu829Lys) rs200684841 0.00026
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=) rs201246720 0.00026
NM_001267550.2(TTN):c.107671G>A (p.Gly35891Ser) rs201298767 0.00026
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=) rs184307461 0.00026
NM_001267550.2(TTN):c.16477G>A (p.Gly5493Ser) rs377042940 0.00026
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys) rs199557654 0.00026
NM_001267550.2(TTN):c.28170C>T (p.Leu9390=) rs149910892 0.00026
NM_001267550.2(TTN):c.32792A>C (p.Glu10931Ala) rs370498307 0.00026
NM_001267550.2(TTN):c.34845C>T (p.Pro11615=) rs368781863 0.00026
NM_001267550.2(TTN):c.46387G>A (p.Gly15463Arg) rs200042932 0.00026
NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys) rs72677229 0.00026
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln) rs199640194 0.00026
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val) rs750610895 0.00026
NM_001267550.2(TTN):c.52004G>A (p.Arg17335His) rs367603302 0.00026
NM_001267550.2(TTN):c.57263-4C>T rs373552048 0.00026
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu) rs201662134 0.00026
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met) rs368867993 0.00026
NM_001267550.2(TTN):c.69984G>A (p.Ala23328=) rs56052239 0.00026
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser) rs370771532 0.00026
NM_001267550.2(TTN):c.74844G>A (p.Lys24948=) rs371884545 0.00026
NM_001267550.2(TTN):c.83133G>A (p.Lys27711=) rs369223412 0.00026
NM_001267550.2(TTN):c.91425C>T (p.Asp30475=) rs145133144 0.00026
NM_001267550.2(TTN):c.92042C>A (p.Ala30681Asp) rs201400267 0.00026
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=) rs373206096 0.00026
NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile) rs182683829 0.00026
NM_001267550.2(TTN):c.98892C>T (p.Pro32964=) rs374081262 0.00026
NM_001291303.3(FAT4):c.11040G>A (p.Thr3680=) rs147998041 0.00026
NM_001292063.2(OTOG):c.2385G>T (p.Gly795=) rs564595203 0.00026
NM_001330260.2(SCN8A):c.5577C>T (p.Ser1859=) rs185667241 0.00026
NM_001367624.2(ZNF469):c.7981G>A (p.Gly2661Ser) rs138259179 0.00026
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser) rs137852820 0.00026
NM_001371623.1(TCOF1):c.4418C>T (p.Pro1473Leu) rs148367422 0.00026
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_001378454.1(ALMS1):c.9589T>A (p.Ser3197Thr) rs369682692 0.00026
NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237 0.00026
NM_001384474.1(LOXHD1):c.231C>T (p.Leu77=) rs200306249 0.00026
NM_001429.4(EP300):c.4724A>G (p.Asn1575Ser) rs144547088 0.00026
NM_001844.5(COL2A1):c.2680-9C>T rs369022247 0.00026
NM_001848.3(COL6A1):c.1602C>T (p.Pro534=) rs143755280 0.00026
NM_001848.3(COL6A1):c.3029A>G (p.Gln1010Arg) rs141605607 0.00026
NM_001849.4(COL6A2):c.2517C>T (p.Asp839=) rs113002150 0.00026
NM_001849.4(COL6A2):c.84G>A (p.Pro28=) rs140890046 0.00026
NM_001966.4(EHHADH):c.1013A>G (p.Lys338Arg) rs141210101 0.00026
NM_002180.3(IGHMBP2):c.1581C>T (p.Asp527=) rs149736203 0.00026
NM_002335.4(LRP5):c.4565C>T (p.Pro1522Leu) rs200624778 0.00026
NM_002633.3(PGM1):c.1103C>T (p.Ala368Val) rs145972303 0.00026
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206 0.00026
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His) rs191293931 0.00026
NM_003049.4(SLC10A1):c.573G>C (p.Gly191=) rs200693940 0.00026
NM_004006.3(DMD):c.1252A>T (p.Thr418Ser) rs201341211 0.00026
NM_004187.5(KDM5C):c.3381A>G (p.Lys1127=) rs370000816 0.00026
NM_004239.4(TRIP11):c.1774C>T (p.Leu592=) rs199768095 0.00026
NM_004260.4(RECQL4):c.1872C>T (p.Val624=) rs201815449 0.00026
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile) rs78427077 0.00026
NM_004369.4(COL6A3):c.4047C>T (p.Asp1349=) rs115893145 0.00026
NM_004369.4(COL6A3):c.4900+9C>T rs117345850 0.00026
NM_004369.4(COL6A3):c.9351C>T (p.Asp3117=) rs148821986 0.00026
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719 0.00026
NM_004700.4(KCNQ4):c.1259G>A (p.Arg420Gln) rs374078257 0.00026
NM_004813.4(PEX16):c.887+9C>A rs370590743 0.00026
NM_005045.4(RELN):c.4337A>G (p.Asn1446Ser) rs115577014 0.00026
NM_005422.4(TECTA):c.327C>T (p.Gly109=) rs727504830 0.00026
NM_005422.4(TECTA):c.4315C>A (p.Leu1439Ile) rs202199158 0.00026
NM_005633.4(SOS1):c.698A>G (p.Asn233Ser) rs144934321 0.00026
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_013382.7(POMT2):c.806G>A (p.Ser269Asn) rs375217032 0.00026
NM_014014.5(SNRNP200):c.2928G>A (p.Thr976=) rs375734152 0.00026
NM_014425.5(INVS):c.2664T>C (p.Ser888=) rs1052867 0.00026
NM_014795.4(ZEB2):c.1438G>T (p.Ala480Ser) rs143854197 0.00026
NM_014795.4(ZEB2):c.1735A>G (p.Thr579Ala) rs140593583 0.00026
NM_015047.3(EMC1):c.2712dup (p.His905fs) rs781137936 0.00026
NM_015102.5(NPHP4):c.2142T>A (p.Ala714=) rs199912631 0.00026
NM_015192.4(PLCB1):c.3607C>T (p.Leu1203=) rs150804955 0.00026
NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr) rs113434340 0.00026
NM_015311.3(OBSL1):c.4588C>T (p.Leu1530=) rs201893489 0.00026
NM_015404.4(WHRN):c.2237-10C>G rs200131193 0.00026
NM_015910.7(WDPCP):c.1788C>T (p.Asp596=) rs185980830 0.00026
NM_017739.4(POMGNT1):c.1284+9G>C rs565797493 0.00026
NM_020822.3(KCNT1):c.2214G>A (p.Pro738=) rs142424896 0.00026
NM_022437.3(ABCG8):c.888G>T (p.Ala296=) rs143182625 0.00026
NM_024757.5(EHMT1):c.2705G>A (p.Arg902Gln) rs377070695 0.00026
NM_025265.4(TSEN2):c.309G>A (p.Arg103=) rs148549222 0.00026
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg) rs370633684 0.00026
NM_032119.4(ADGRV1):c.13153A>G (p.Ile4385Val) rs200584854 0.00026
NM_058246.4(DNAJB6):c.860G>A (p.Arg287Gln) rs368078459 0.00026
NM_133433.4(NIPBL):c.7728T>C (p.Tyr2576=) rs371347218 0.00026
NM_138694.4(PKHD1):c.11400G>A (p.Gly3800=) rs149427926 0.00026
NM_138927.4(SON):c.2659G>A (p.Ala887Thr) rs370344763 0.00026
NM_147196.3(TMIE):c.191C>T (p.Ser64Leu) rs189895472 0.00026
NM_153240.5(NPHP3):c.118C>T (p.Leu40=) rs374281831 0.00026
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_153240.5(NPHP3):c.408G>A (p.Thr136=) rs141410951 0.00026
NM_182961.4(SYNE1):c.14625G>A (p.Thr4875=) rs140118684 0.00026
NM_201384.3(PLEC):c.12475C>T (p.Arg4159Cys) rs201069314 0.00026
NM_201384.3(PLEC):c.12781G>A (p.Ala4261Thr) rs200924154 0.00026
NM_201384.3(PLEC):c.8762C>T (p.Thr2921Met) rs191036710 0.00026
NM_201384.3(PLEC):c.8845C>T (p.Arg2949Trp) rs202241157 0.00026
NM_201384.3(PLEC):c.9475G>A (p.Ala3159Thr) rs201030020 0.00026
NM_207361.6(FREM2):c.7062G>A (p.Thr2354=) rs41286130 0.00026
NM_207361.6(FREM2):c.9009C>T (p.Val3003=) rs145657148 0.00026
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_000057.4(BLM):c.2838A>G (p.Thr946=) rs200850440 0.00025
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His) rs76784312 0.00025
NM_000124.4(ERCC6):c.438C>T (p.Ser146=) rs138756386 0.00025
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe) rs150935953 0.00025
NM_000186.4(CFH):c.3133+4C>G rs374729595 0.00025
NM_000208.4(INSR):c.1179G>A (p.Gly393=) rs140573575 0.00025
NM_000232.5(SGCB):c.495C>T (p.Asp165=) rs142801720 0.00025
NM_000232.5(SGCB):c.794C>T (p.Thr265Ile) rs116214830 0.00025
NM_000384.3(APOB):c.9639C>A (p.Asn3213Lys) rs574725520 0.00025
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile) rs142163063 0.00025
NM_000492.4(CFTR):c.4197C>G (p.Leu1399=) rs79688066 0.00025
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_000546.6(TP53):c.704A>G (p.Asn235Ser) rs144340710 0.00025
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=) rs141633456 0.00025
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=) rs370576211 0.00025
NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln) rs150628823 0.00025
NM_001024630.4(RUNX2):c.531C>G (p.Asn177Lys) rs147359883 0.00025
NM_001103.4(ACTN2):c.1235C>T (p.Thr412Met) rs139515659 0.00025
NM_001177316.2(SLC34A3):c.1074G>A (p.Val358=) rs146097023 0.00025
NM_001202.6(BMP4):c.676C>T (p.Arg226Trp) rs140590144 0.00025
NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met) rs199796249 0.00025
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575 0.00025
NM_001267550.2(TTN):c.39690G>A (p.Ala13230=) rs528832388 0.00025
NM_001267550.2(TTN):c.52656T>C (p.Pro17552=) rs371031259 0.00025
NM_001267550.2(TTN):c.5697C>T (p.Ile1899=) rs148434577 0.00025
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro) rs201674674 0.00025
NM_001429.4(EP300):c.5172C>A (p.Thr1724=) rs142330184 0.00025
NM_001848.3(COL6A1):c.2856C>T (p.Pro952=) rs140427635 0.00025
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His) rs145698301 0.00025
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr) rs147800688 0.00025
NM_002025.4(AFF2):c.1121C>A (p.Ser374Tyr) rs200306870 0.00025
NM_002473.6(MYH9):c.1479G>A (p.Gln493=) rs376262583 0.00025
NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn) rs34292387 0.00025
NM_003193.5(TBCE):c.708T>G (p.Leu236=) rs141498084 0.00025
NM_003282.4(TNNI2):c.102G>A (p.Glu34=) rs143863270 0.00025
NM_003482.4(KMT2D):c.15090T>G (p.Arg5030=) rs373414243 0.00025
NM_003482.4(KMT2D):c.3906+20C>T rs375504464 0.00025
NM_003742.4(ABCB11):c.851T>C (p.Val284Ala) rs200739891 0.00025
NM_003995.4(NPR2):c.3087A>C (p.Gly1029=) rs138254005 0.00025
NM_004006.3(DMD):c.8076A>G (p.Gln2692=) rs144518527 0.00025
NM_004369.4(COL6A3):c.1146G>A (p.Gln382=) rs368800027 0.00025
NM_004369.4(COL6A3):c.9128G>A (p.Arg3043His) rs552651651 0.00025
NM_005902.4(SMAD3):c.207-10G>A rs201912204 0.00025
NM_006922.4(SCN3A):c.2121C>T (p.Ser707=) rs370351101 0.00025
NM_012193.4(FZD4):c.118G>C (p.Glu40Gln) rs139401671 0.00025
NM_014780.5(CUL7):c.2802C>A (p.Leu934=) rs144926293 0.00025
NM_014795.4(ZEB2):c.2142G>A (p.Pro714=) rs201180901 0.00025
NM_015102.5(NPHP4):c.1632C>T (p.Ala544=) rs201903713 0.00025
NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp) rs186448979 0.00025
NM_022124.6(CDH23):c.6489G>C (p.Leu2163=) rs111033493 0.00025
NM_022436.3(ABCG5):c.1528C>A (p.His510Asn) rs199984328 0.00025
NM_022455.5(NSD1):c.7908C>T (p.Leu2636=) rs143159630 0.00025
NM_031407.7(HUWE1):c.8687C>T (p.Ala2896Val) rs142574684 0.00025
NM_032119.4(ADGRV1):c.5578G>A (p.Ala1860Thr) rs369603835 0.00025
NM_032575.3(GLIS2):c.693C>T (p.Asn231=) rs150071733 0.00025
NM_133379.5(TTN):c.12716C>T (p.Ala4239Val) rs72647901 0.00025
NM_138694.4(PKHD1):c.130+9G>A rs367608402 0.00025
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met) rs199621305 0.00025
NM_145239.3(PRRT2):c.1013T>C (p.Val338Ala) rs144540943 0.00025
NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala) rs201483764 0.00025
NM_153252.5(BRWD3):c.4377A>G (p.Leu1459=) rs138240307 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_182914.3(SYNE2):c.16178C>T (p.Ala5393Val) rs147173048 0.00025
NM_182961.4(SYNE1):c.1838C>T (p.Ser613Phe) rs140135976 0.00025
NM_194248.3(OTOF):c.152C>T (p.Pro51Leu) rs150132765 0.00025
NM_201384.3(PLEC):c.13209G>A (p.Pro4403=) rs200338374 0.00025
NM_201384.3(PLEC):c.2541C>T (p.Ser847=) rs374688294 0.00025
NM_201384.3(PLEC):c.5632C>T (p.Arg1878Trp) rs782312793 0.00025
NM_201548.5(CERKL):c.60G>A (p.Glu20=) rs556744419 0.00025
NM_207122.2(EXT2):c.1645C>T (p.Leu549=) rs142565472 0.00025
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg) rs201131924 0.00024
NM_000026.4(ADSL):c.649C>G (p.His217Asp) rs199761158 0.00024
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013 0.00024
NM_000098.3(CPT2):c.1422C>A (p.Ala474=) rs192779168 0.00024
NM_000106.5(CYP2D6):c.124G>A (p.Gly42Arg) rs5030862 0.00024
NM_000214.3(JAG1):c.3280C>T (p.Arg1094Trp) rs75652750 0.00024
NM_000214.3(JAG1):c.399G>A (p.Thr133=) rs763154396 0.00024
NM_000233.4(LHCGR):c.1797C>A (p.Ile599=) rs143697410 0.00024
NM_000235.4(LIPA):c.396C>G (p.Leu132=) rs201603238 0.00024
NM_000245.4(MET):c.1932C>T (p.His644=) rs45520237 0.00024
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro) rs377225516 0.00024
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met) rs140559111 0.00024
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408 0.00024
NM_000304.4(PMP22):c.320-4C>T rs377467465 0.00024
NM_000392.5(ABCC2):c.3500T>C (p.Val1167Ala) rs140680467 0.00024
NM_000392.5(ABCC2):c.469-9T>C rs147614414 0.00024
NM_000443.4(ABCB4):c.3000T>C (p.Ala1000=) rs1057495486 0.00024
NM_000452.3(SLC10A2):c.132G>C (p.Leu44Phe) rs199553519 0.00024
NM_000452.3(SLC10A2):c.561C>G (p.Pro187=) rs139517943 0.00024
NM_000466.3(PEX1):c.2868T>A (p.Val956=) rs200663477 0.00024
NM_000489.6(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002 0.00024
NM_000702.4(ATP1A2):c.2973C>T (p.Tyr991=) rs149286529 0.00024
NM_000883.4(IMPDH1):c.624C>G (p.Pro208=) rs758909916 0.00024
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter) rs201419367 0.00024
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys) rs551099887 0.00024
NM_001039348.3(EFEMP1):c.1413C>T (p.Ser471=) rs374690853 0.00024
NM_001134407.3(GRIN2A):c.2165C>T (p.Thr722Met) rs376029542 0.00024
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg) rs367857088 0.00024
NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile) rs202124287 0.00024
NM_001193315.2(VIPAS39):c.1071C>T (p.Asn357=) rs138544284 0.00024
NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg) rs77585883 0.00024
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) rs375448572 0.00024
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=) rs190604150 0.00024
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys) rs72646839 0.00024
NM_001267550.2(TTN):c.62098A>G (p.Asn20700Asp) rs151193056 0.00024
NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln) rs188996850 0.00024
NM_001267550.2(TTN):c.70056A>G (p.Arg23352=) rs75948012 0.00024
NM_001267550.2(TTN):c.86117G>A (p.Arg28706Gln) rs199788826 0.00024
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val) rs200193877 0.00024
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=) rs370479059 0.00024
NM_001267550.2(TTN):c.94633C>T (p.Arg31545Cys) rs202187398 0.00024
NM_001277115.2(DNAH11):c.3853-5C>G rs367628980 0.00024
NM_001360.3(DHCR7):c.987C>T (p.Pro329=) rs145901607 0.00024
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265 0.00024
NM_001378120.1(MBD5):c.69G>A (p.Val23=) rs151204004 0.00024
NM_001378615.1(CC2D2A):c.4809C>G (p.Pro1603=) rs367841700 0.00024
NM_001457.4(FLNB):c.3594G>A (p.Thr1198=) rs143566075 0.00024
NM_001458.5(FLNC):c.2733G>A (p.Lys911=) rs374135903 0.00024
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser) rs145042175 0.00024
NM_001848.3(COL6A1):c.1122C>T (p.Gly374=) rs373535692 0.00024
NM_001848.3(COL6A1):c.2045G>A (p.Arg682Gln) rs148962954 0.00024
NM_001849.4(COL6A2):c.2937C>T (p.Asp979=) rs150716220 0.00024
NM_001849.4(COL6A2):c.628G>A (p.Glu210Lys) rs113017484 0.00024
NM_002024.6(FMR1):c.420-10A>T rs781827082 0.00024
NM_002693.3(POLG):c.2149C>T (p.Leu717=) rs779515404 0.00024
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) rs202037973 0.00024
NM_002693.3(POLG):c.2541C>T (p.Ala847=) rs143810171 0.00024
NM_002693.3(POLG):c.3482+7G>A rs200309191 0.00024
NM_003680.4(YARS1):c.510+10G>C rs201272488 0.00024
NM_003742.4(ABCB11):c.1396C>A (p.Gln466Lys) rs200148505 0.00024
NM_003742.4(ABCB11):c.477A>G (p.Gln159=) rs191042013 0.00024
NM_003850.3(SUCLA2):c.49C>G (p.Arg17Gly) rs200124902 0.00024
NM_004006.3(DMD):c.6052C>A (p.Leu2018Ile) rs367702968 0.00024
NM_004006.3(DMD):c.9165G>A (p.Thr3055=) rs137905486 0.00024
NM_004333.6(BRAF):c.-5A>G rs71645936 0.00024
NM_004560.4(ROR2):c.1671G>A (p.Ser557=) rs201232887 0.00024
NM_004817.4(TJP2):c.3190G>T (p.Val1064Leu) rs199892018 0.00024
NM_004863.4(SPTLC2):c.851-5T>C rs199867946 0.00024
NM_005045.4(RELN):c.4872A>G (p.Gln1624=) rs149121159 0.00024
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp) rs370359511 0.00024
NM_006486.3(FBLN1):c.1074C>T (p.Asp358=) rs147528917 0.00024
NM_006767.4(LZTR1):c.1333G>A (p.Val445Met) rs201070853 0.00024
NM_006922.4(SCN3A):c.4335T>C (p.Tyr1445=) rs145492863 0.00024
NM_012301.4(MAGI2):c.411G>A (p.Thr137=) rs149568072 0.00024
NM_012418.4(FSCN2):c.867C>T (p.His289=) rs368687488 0.00024
NM_014251.3(SLC25A13):c.882T>C (p.Ala294=) rs138094550 0.00024
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr) rs202004152 0.00024
NM_015311.3(OBSL1):c.423G>A (p.Arg141=) rs79796143 0.00024
NM_015335.5(MED13L):c.5732-3C>T rs370245982 0.00024
NM_015338.6(ASXL1):c.2336C>T (p.Pro779Leu) rs41289850 0.00024
NM_015404.4(WHRN):c.1608C>G (p.Thr536=) rs139337135 0.00024
NM_015443.4(KANSL1):c.2725-7A>G rs186818985 0.00024
NM_017739.4(POMGNT1):c.1786-6C>T rs202028128 0.00024
NM_018100.4(EFHC1):c.1675T>C (p.Leu559=) rs145194882 0.00024
NM_020754.4(ARHGAP31):c.435C>G (p.Thr145=) rs201927115 0.00024
NM_022089.4(ATP13A2):c.3258G>A (p.Ala1086=) rs377253172 0.00024
NM_022367.4(SEMA4A):c.1086A>C (p.Ser362=) rs145993678 0.00024
NM_022455.5(NSD1):c.1666A>G (p.Asn556Asp) rs143571876 0.00024
NM_031407.7(HUWE1):c.6126G>A (p.Gly2042=) rs149577148 0.00024
NM_032119.4(ADGRV1):c.10322G>C (p.Gly3441Ala) rs200464486 0.00024
NM_080680.3(COL11A2):c.1819-10G>A rs3129202 0.00024
NM_080680.3(COL11A2):c.2536C>T (p.Arg846Trp) rs149071920 0.00024
NM_080680.3(COL11A2):c.4950C>T (p.Asp1650=) rs372110441 0.00024
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=) rs141324814 0.00024
NM_153033.5(KCTD7):c.687T>C (p.Asp229=) rs372150992 0.00024
NM_171998.4(RAB39B):c.543A>G (p.Thr181=) rs369970931 0.00024
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=) rs151081036 0.00024
NM_182961.4(SYNE1):c.12225+4G>A rs770448083 0.00024
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln) rs200812806 0.00024
NM_201384.3(PLEC):c.12837C>T (p.Pro4279=) rs759030267 0.00024
NM_201384.3(PLEC):c.5149C>T (p.Arg1717Trp) rs192022872 0.00024
NM_201384.3(PLEC):c.7061C>T (p.Ala2354Val) rs370003608 0.00024
NM_206933.4(USH2A):c.14642G>C (p.Ser4881Thr) rs200949691 0.00024
NM_000033.4(ABCD1):c.249C>T (p.Phe83=) rs782628755 0.00023
NM_000090.4(COL3A1):c.1815+5G>A rs146652498 0.00023
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys) rs201839693 0.00023
NM_000260.4(MYO7A):c.3038C>T (p.Thr1013Ile) rs369539923 0.00023
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167 0.00023
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000368.5(TSC1):c.615T>C (p.Ser205=) rs118203414 0.00023
NM_000382.3(ALDH3A2):c.1108-3C>T rs148944691 0.00023
NM_000426.4(LAMA2):c.6002G>A (p.Arg2001Lys) rs151009169 0.00023
NM_000489.6(ATRX):c.6405C>T (p.Phe2135=) rs148659669 0.00023
NM_001038603.3(MARVELD2):c.30G>A (p.Arg10=) rs143592561 0.00023
NM_001039141.3(TRIOBP):c.1283C>G (p.Pro428Arg) rs372134073 0.00023
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788 0.00023
NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys) rs200524526 0.00023
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) rs201819948 0.00023
NM_001164508.2(NEB):c.2343G>A (p.Lys781=) rs191610670 0.00023
NM_001193315.2(VIPAS39):c.171C>G (p.Val57=) rs144120903 0.00023
NM_001206979.2(NR1H4):c.438G>A (p.Gly146=) rs137946171 0.00023
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) rs199632397 0.00023
NM_001267550.2(TTN):c.23387G>A (p.Arg7796Gln) rs267599059 0.00023
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=) rs372635204 0.00023
NM_001267550.2(TTN):c.59344+3G>A rs142095604 0.00023
NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly) rs202032875 0.00023
NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala) rs377016580 0.00023
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala) rs368877793 0.00023
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=) rs200014315 0.00023
NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn) rs374411782 0.00023
NM_001844.5(COL2A1):c.3699C>T (p.Pro1233=) rs141944722 0.00023
NM_002578.5(PAK3):c.601-10G>T rs185674324 0.00023
NM_002653.5(PITX1):c.262A>C (p.Lys88Gln) rs200888898 0.00023
NM_002693.3(POLG):c.408C>G (p.Asp136Glu) rs115109291 0.00023
NM_002968.3(SALL1):c.3750C>T (p.Asn1250=) rs142653419 0.00023
NM_003482.4(KMT2D):c.5181C>T (p.Pro1727=) rs201686029 0.00023
NM_003742.4(ABCB11):c.23G>A (p.Arg8Gln) rs368985605 0.00023
NM_003742.4(ABCB11):c.506G>A (p.Arg169His) rs200870815 0.00023
NM_004006.3(DMD):c.696C>G (p.Ile232Met) rs145668843 0.00023
NM_004006.3(DMD):c.7310-7A>G rs373230021 0.00023
NM_004006.3(DMD):c.884G>A (p.Arg295Gln) rs377587957 0.00023
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=) rs144434028 0.00023
NM_005476.7(GNE):c.843C>T (p.His281=) rs138694766 0.00023
NM_005529.7(HSPG2):c.4971C>T (p.Tyr1657=) rs138459752 0.00023
NM_005676.5(RBM10):c.2175G>T (p.Pro725=) rs137940243 0.00023
NM_014795.4(ZEB2):c.462G>A (p.Glu154=) rs372940559 0.00023
NM_015192.4(PLCB1):c.714A>C (p.Pro238=) rs147567110 0.00023
NM_015335.5(MED13L):c.3866C>T (p.Pro1289Leu) rs200187663 0.00023
NM_017780.4(CHD7):c.6711C>T (p.Ser2237=) rs370385319 0.00023
NM_018668.5(VPS33B):c.1658-7C>T rs375376103 0.00023
NM_018668.5(VPS33B):c.240-9C>T rs781107857 0.00023
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) rs201297042 0.00023
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile) rs181275139 0.00023
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) rs140884994 0.00023
NM_022437.3(ABCG8):c.1648G>A (p.Ala550Thr) rs149441561 0.00023
NM_024408.4(NOTCH2):c.5103A>G (p.Lys1701=) rs201233415 0.00023
NM_080916.3(DGUOK):c.664C>T (p.Leu222=) rs375686551 0.00023
NM_152564.5(VPS13B):c.2124T>C (p.Ala708=) rs201650333 0.00023
NM_181332.3(NLGN4X):c.1305G>A (p.Thr435=) rs149512448 0.00023
NM_182914.3(SYNE2):c.13792G>A (p.Glu4598Lys) rs144702281 0.00023
NM_182961.4(SYNE1):c.2569-8C>T rs376033376 0.00023
NM_182961.4(SYNE1):c.9807+5C>T rs185350092 0.00023
NM_201384.3(PLEC):c.5811G>A (p.Ala1937=) rs199990259 0.00023
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg) rs150982499 0.00023
NM_000091.5(COL4A3):c.2699T>C (p.Ile900Thr) rs201665434 0.00022
NM_000137.4(FAH):c.747A>G (p.Pro249=) rs138757552 0.00022
NM_000152.5(GAA):c.1599C>T (p.Cys533=) rs142766716 0.00022
NM_000214.3(JAG1):c.1348+3G>A rs368718180 0.00022
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=) rs138452567 0.00022
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375 0.00022
NM_000245.4(MET):c.1076G>A (p.Arg359Gln) rs201274041 0.00022
NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg) rs150430628 0.00022
NM_000260.4(MYO7A):c.2208G>A (p.Leu736=) rs373599360 0.00022
NM_000271.5(NPC1):c.471C>T (p.Tyr157=) rs145101354 0.00022
NM_000295.5(SERPINA1):c.-4G>A rs374417614 0.00022
NM_000393.5(COL5A2):c.2103C>T (p.Pro701=) rs376612765 0.00022
NM_000458.4(HNF1B):c.1594A>G (p.Met532Val) rs141193981 0.00022
NM_000466.3(PEX1):c.1725G>A (p.Leu575=) rs150667796 0.00022
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=) rs201719745 0.00022
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln) rs142540482 0.00022
NM_000702.4(ATP1A2):c.1652-8C>T rs370023134 0.00022
NM_000875.5(IGF1R):c.1500G>A (p.Thr500=) rs370500527 0.00022
NM_001042432.2(CLN3):c.45G>A (p.Glu15=) rs201824641 0.00022
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) rs267608572 0.00022
NM_001122630.2(CDKN1C):c.411G>A (p.Pro137=) rs878853625 0.00022
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=) rs374307014 0.00022
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) rs375354077 0.00022
NM_001128178.3(NPHP1):c.771+2C>T rs189320299 0.00022
NM_001134407.3(GRIN2A):c.3702C>T (p.Phe1234=) rs372083517 0.00022
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp) rs201189784 0.00022
NM_001177316.2(SLC34A3):c.1473C>T (p.Tyr491=) rs148095831 0.00022
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=) rs183336802 0.00022
NM_001267550.2(TTN):c.104519G>A (p.Arg34840Gln) rs199710082 0.00022
NM_001267550.2(TTN):c.12234C>G (p.Thr4078=) rs192857526 0.00022
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys) rs192553687 0.00022
NM_001267550.2(TTN):c.21721G>A (p.Val7241Ile) rs367854582 0.00022
NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu) rs200952728 0.00022
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu) rs189030321 0.00022
NM_001267550.2(TTN):c.96015C>T (p.Pro32005=) rs183620684 0.00022
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641 0.00022
NM_001297.5(CNGB1):c.838-4G>T rs375539469 0.00022
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) rs149802213 0.00022
NM_001330260.2(SCN8A):c.5601G>A (p.Gln1867=) rs368449473 0.00022
NM_001367721.1(CASK):c.356+6T>C rs200402760 0.00022
NM_001377.3(DYNC2H1):c.10043-7T>A rs376067770 0.00022
NM_001378120.1(MBD5):c.276A>G (p.Ala92=) rs141855494 0.00022
NM_001378414.1(HDAC4):c.2151G>A (p.Gln717=) rs138137158 0.00022
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=) rs771914973 0.00022
NM_001379110.1(SLC9A6):c.1083G>A (p.Leu361=) rs151178361 0.00022
NM_001386393.1(PANK2):c.50G>T (p.Gly17Val) rs528149001 0.00022
NM_001493.3(GDI1):c.1167C>T (p.Pro389=) rs140855833 0.00022
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) rs63751100 0.00022
NM_002335.4(LRP5):c.1395A>C (p.Ala465=) rs200075657 0.00022
NM_002335.4(LRP5):c.639C>T (p.Asp213=) rs150859573 0.00022
NM_002546.4(TNFRSF11B):c.96C>T (p.Asp32=) rs4876870 0.00022
NM_002617.4(PEX10):c.611G>A (p.Arg204His) rs199934621 0.00022
NM_002618.4(PEX13):c.142C>T (p.Leu48Phe) rs60203778 0.00022
NM_004006.3(DMD):c.3951G>A (p.Glu1317=) rs199643655 0.00022
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser) rs758633794 0.00022
NM_004006.3(DMD):c.9287-8C>T rs371035624 0.00022
NM_004304.5(ALK):c.3291C>T (p.Cys1097=) rs370170353 0.00022
NM_004369.4(COL6A3):c.3954C>T (p.Tyr1318=) rs375909800 0.00022
NM_004369.4(COL6A3):c.4503C>T (p.Asp1501=) rs115551245 0.00022
NM_004820.5(CYP7B1):c.522T>C (p.Ser174=) rs371522442 0.00022
NM_005378.6(MYCN):c.1093C>G (p.Pro365Ala) rs140276895 0.00022
NM_005633.4(SOS1):c.1770G>A (p.Glu590=) rs553331572 0.00022
NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr) rs140125843 0.00022
NM_006017.3(PROM1):c.2271C>T (p.Ile757=) rs375986111 0.00022
NM_006019.4(TCIRG1):c.2445C>T (p.Gly815=) rs150788130 0.00022
NM_006950.3(SYN1):c.1569G>A (p.Ala523=) rs587781185 0.00022
NM_014425.5(INVS):c.114T>C (p.Ser38=) rs114056499 0.00022
NM_014467.3(SRPX2):c.693C>A (p.His231Gln) rs142719253 0.00022
NM_014780.5(CUL7):c.981C>T (p.Pro327=) rs144880219 0.00022
NM_015311.3(OBSL1):c.1283-9G>A rs376967214 0.00022
NM_016356.5(DCDC2):c.222C>A (p.Ile74=) rs138670560 0.00022
NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr) rs201423234 0.00022
NM_020754.4(ARHGAP31):c.2323G>A (p.Gly775Ser) rs147415811 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_021971.4(GMPPB):c.1048G>A (p.Gly350Ser) rs184127567 0.00022
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) rs137852988 0.00022
NM_022437.3(ABCG8):c.322+6G>A rs181319879 0.00022
NM_024301.5(FKRP):c.885C>T (p.Arg295=) rs769005880 0.00022
NM_024408.4(NOTCH2):c.5161G>A (p.Ala1721Thr) rs115013051 0.00022
NM_024596.5(MCPH1):c.1214T>C (p.Leu405Pro) rs556803400 0.00022
NM_024757.5(EHMT1):c.32C>T (p.Ala11Val) rs200636818 0.00022
NM_025074.7(FRAS1):c.1635C>T (p.Ser545=) rs528765554 0.00022
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_031220.4(PITPNM3):c.1124C>T (p.Pro375Leu) rs138671220 0.00022
NM_032119.4(ADGRV1):c.6443C>T (p.Ala2148Val) rs375921325 0.00022
NM_133379.5(TTN):c.12550G>T (p.Gly4184Cys) rs145460295 0.00022
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr) rs147351244 0.00022
NM_139058.3(ARX):c.336A>G (p.Ala112=) rs794727308 0.00022
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00022
NM_182961.4(SYNE1):c.13554C>T (p.Arg4518=) rs115535983 0.00022
NM_201384.3(PLEC):c.2163C>T (p.Asn721=) rs374712759 0.00022
NM_201384.3(PLEC):c.2268C>T (p.Thr756=) rs371267446 0.00022
NM_201384.3(PLEC):c.3958C>T (p.Arg1320Cys) rs372256096 0.00022
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115 0.00021
NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu) rs74315297 0.00021
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311 0.00021
NM_000182.5(HADHA):c.2175C>T (p.Gly725=) rs375399631 0.00021
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp) rs76077021 0.00021
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000392.5(ABCC2):c.4348G>T (p.Ala1450Ser) rs56296335 0.00021
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_000441.2(SLC26A4):c.1544+9C>T rs368970459 0.00021
NM_000444.6(PHEX):c.1202C>T (p.Pro401Leu) rs145778165 0.00021
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=) rs144249535 0.00021
NM_000487.6(ARSA):c.636C>T (p.Ala212=) rs200182983 0.00021
NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala) rs201434579 0.00021
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_000550.3(TYRP1):c.1261+1G>A rs140365820 0.00021
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=) rs147021347 0.00021
NM_000744.7(CHRNA4):c.1635G>A (p.Thr545=) rs121912283 0.00021
NM_000784.4(CYP27A1):c.609G>A (p.Ser203=) rs148132118 0.00021
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582 0.00021
NM_001039141.3(TRIOBP):c.6360C>T (p.Ser2120=) rs375936342 0.00021
NM_001083961.2(WDR62):c.820T>G (p.Tyr274Asp) rs746156911 0.00021
NM_001110792.2(MECP2):c.1020C>T (p.Leu340=) rs61751442 0.00021
NM_001130987.2(DYSF):c.3267C>T (p.Tyr1089=) rs150355624 0.00021
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser) rs139529811 0.00021
NM_001134407.3(GRIN2A):c.736C>A (p.Leu246Ile) rs555768104 0.00021
NM_001161352.2(KCNMA1):c.1287G>T (p.Leu429=) rs147378590 0.00021
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732 0.00021
NM_001194998.2(CEP152):c.2920C>A (p.Gln974Lys) rs370745843 0.00021
NM_001244008.2(KIF1A):c.2475C>T (p.Tyr825=) rs199996308 0.00021
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys) rs376593556 0.00021
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn) rs201263441 0.00021
NM_001267550.2(TTN):c.28644G>A (p.Thr9548=) rs376744914 0.00021
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys) rs201035457 0.00021
NM_001267550.2(TTN):c.5464A>C (p.Met1822Leu) rs201581947 0.00021
NM_001267550.2(TTN):c.62280T>C (p.Val20760=) rs372065796 0.00021
NM_001267550.2(TTN):c.62424C>T (p.Asp20808=) rs374472044 0.00021
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys) rs145039979 0.00021
NM_001267550.2(TTN):c.88984G>A (p.Gly29662Ser) rs187460377 0.00021
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) rs200766837 0.00021
NM_001267550.2(TTN):c.98826C>G (p.Asp32942Glu) rs190967471 0.00021
NM_001278116.2(L1CAM):c.963C>T (p.Ala321=) rs145823218 0.00021
NM_001282531.3(ADNP):c.1063G>A (p.Ala355Thr) rs200625964 0.00021
NM_001330078.2(NRXN1):c.1700T>G (p.Leu567Trp) rs372311299 0.00021
NM_001378120.1(MBD5):c.2010C>G (p.Leu670=) rs371014306 0.00021
NM_001384474.1(LOXHD1):c.1944C>T (p.Ser648=) rs369039902 0.00021
NM_001492.6(GDF1):c.485G>A (p.Gly162Asp) rs121434424 0.00021
NM_001701.4(BAAT):c.1173C>T (p.His391=) rs113673597 0.00021
NM_001927.4(DES):c.736-8C>A rs140375681 0.00021
NM_002437.5(MPV17):c.31C>T (p.Leu11=) rs540291444 0.00021
NM_002618.4(PEX13):c.354T>C (p.Phe118=) rs143378216 0.00021
NM_002900.3(RBP3):c.1514A>T (p.His505Leu) rs201808774 0.00021
NM_003282.4(TNNI2):c.333A>G (p.Pro111=) rs201133081 0.00021
NM_003722.5(TP63):c.504C>T (p.Asn168=) rs141278696 0.00021
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys) rs199986217 0.00021
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu) rs114284669 0.00021
NM_004369.4(COL6A3):c.759C>T (p.Thr253=) rs376087730 0.00021
NM_004463.3(FGD1):c.1563C>T (p.Pro521=) rs201996522 0.00021
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser) rs118192254 0.00021
NM_004565.3(PEX14):c.360A>G (p.Ala120=) rs148479162 0.00021
NM_004985.5(KRAS):c.264A>G (p.Lys88=) rs370920665 0.00021
NM_005422.4(TECTA):c.3317G>A (p.Gly1106Asp) rs144844263 0.00021
NM_005609.4(PYGM):c.1143G>A (p.Leu381=) rs143401208 0.00021
NM_005708.5(GPC6):c.10T>A (p.Trp4Arg) rs200925249 0.00021
NM_005881.4(BCKDK):c.1185C>T (p.Asp395=) rs141335706 0.00021
NM_005989.4(AKR1D1):c.262-7C>A rs144365681 0.00021
NM_006329.4(FBLN5):c.621T>C (p.Asp207=) rs200178859 0.00021
NM_006922.4(SCN3A):c.3933T>C (p.Pro1311=) rs138766015 0.00021
NM_006922.4(SCN3A):c.5825A>G (p.Gln1942Arg) rs149264761 0.00021
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_012452.3(TNFRSF13B):c.236A>G (p.Tyr79Cys) rs72553876 0.00021
NM_014425.5(INVS):c.67G>A (p.Val23Ile) rs145303373 0.00021
NM_015294.6(TRIM37):c.2577-7C>G rs199694001 0.00021
NM_015295.3(SMCHD1):c.1608A>G (p.Lys536=) rs72862973 0.00021
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) rs61743849 0.00021
NM_017780.4(CHD7):c.7085G>A (p.Ser2362Asn) rs139876661 0.00021
NM_018136.5(ASPM):c.7114A>G (p.Arg2372Gly) rs190693455 0.00021
NM_018136.5(ASPM):c.8452G>T (p.Ala2818Ser) rs188955444 0.00021
NM_020223.4(FAM20C):c.1299G>A (p.Pro433=) rs568534039 0.00021
NM_021625.5(TRPV4):c.2559C>T (p.Cys853=) rs139580010 0.00021
NM_022455.5(NSD1):c.1635G>A (p.Thr545=) rs371958844 0.00021
NM_024596.5(MCPH1):c.1752A>G (p.Pro584=) rs372450763 0.00021
NM_025193.4(HSD3B7):c.695-5G>A rs201111173 0.00021
NM_032119.4(ADGRV1):c.12350G>A (p.Arg4117His) rs202067248 0.00021
NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys) rs199499672 0.00021
NM_033380.3(COL4A5):c.3296C>T (p.Ser1099Phe) rs767087695 0.00021
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys) rs144181978 0.00021
NM_130837.3(OPA1):c.3027A>C (p.Glu1009Asp) rs189036094 0.00021
NM_133379.5(TTN):c.16020T>C (p.His5340=) rs200378944 0.00021
NM_138694.4(PKHD1):c.8554+3A>G rs370312392 0.00021
NM_153676.4(USH1C):c.513C>T (p.Pro171=) rs199739341 0.00021
NM_170707.4(LMNA):c.1017G>A (p.Ala339=) rs17847242 0.00021
NM_181426.2(CCDC39):c.1035-5T>C rs200089274 0.00021
NM_182914.3(SYNE2):c.12903C>T (p.Gly4301=) rs148708516 0.00021
NM_182961.4(SYNE1):c.11253+9G>A rs368012172 0.00021
NM_182961.4(SYNE1):c.16296G>A (p.Arg5432=) rs144376043 0.00021
NM_182961.4(SYNE1):c.26298A>G (p.Pro8766=) rs200880341 0.00021
NM_182961.4(SYNE1):c.3669+4C>G rs376511242 0.00021
NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp) rs140780725 0.00021
NM_194248.3(OTOF):c.327+10C>A rs377042002 0.00021
NM_198428.3(BBS9):c.771A>G (p.Ala257=) rs145007686 0.00021
NM_198525.3(KIF7):c.612C>T (p.His204=) rs398124613 0.00021
NM_201384.3(PLEC):c.11634G>A (p.Ser3878=) rs375097273 0.00021
NM_201384.3(PLEC):c.6605A>G (p.Lys2202Arg) rs201928401 0.00021
NM_201384.3(PLEC):c.7686C>T (p.Ala2562=) rs534269714 0.00021
NM_201384.3(PLEC):c.8041G>A (p.Glu2681Lys) rs200128670 0.00021
NM_201384.3(PLEC):c.9929C>T (p.Ala3310Val) rs183230983 0.00021
NM_207361.6(FREM2):c.2180G>A (p.Arg727His) rs201714905 0.00021
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00020
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys) rs80358906 0.00020
NM_000117.3(EMD):c.428C>T (p.Ser143Phe) rs139983160 0.00020
NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln) rs148845653 0.00020
NM_000142.5(FGFR3):c.1550A>G (p.Lys517Arg) rs139707740 0.00020
NM_000152.5(GAA):c.1888+10_1888+11insC rs748036956 0.00020
NM_000152.5(GAA):c.2253C>T (p.Leu751=) rs140441758 0.00020
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_000426.4(LAMA2):c.2304C>T (p.Asp768=) rs142126511 0.00020
NM_001039141.3(TRIOBP):c.3774C>T (p.Pro1258=) rs377749969 0.00020
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp) rs376103091 0.00020
NM_001102564.3(IFT43):c.296-5602T>C rs141114765 0.00020
NM_001110556.2(FLNA):c.732C>T (p.Pro244=) rs371092631 0.00020
NM_001110792.2(MECP2):c.1173C>T (p.Pro391=) rs61752980 0.00020
NM_001110792.2(MECP2):c.462C>T (p.Phe154=) rs61748397 0.00020
NM_001170629.2(CHD8):c.4921+5G>A rs377595194 0.00020
NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=) rs201566142 0.00020
NM_001252024.2(TRPM1):c.4681C>T (p.Pro1561Ser) rs183837653 0.00020
NM_001267550.2(TTN):c.102520G>A (p.Val34174Ile) rs200430493 0.00020
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser) rs72648922 0.00020
NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe) rs201029552 0.00020
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) rs373355159 0.00020
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln) rs200831060 0.00020
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His) rs202149931 0.00020
NM_001267550.2(TTN):c.84203G>C (p.Ser28068Thr) rs72648219 0.00020
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe) rs201831707 0.00020
NM_001267550.2(TTN):c.93244G>A (p.Glu31082Lys) rs199663613 0.00020
NM_001291415.2(KDM6A):c.2212C>T (p.Pro738Ser) rs200638114 0.00020
NM_001374353.1(GLI2):c.4506C>T (p.Gly1502=) rs200499325 0.00020
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln) rs149278000 0.00020
NM_001378454.1(ALMS1):c.280C>T (p.Pro94Ser) rs775431837 0.00020
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser) rs199922877 0.00020
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_001429.4(EP300):c.324C>T (p.Ala108=) rs138876937 0.00020
NM_001848.3(COL6A1):c.2601C>T (p.Pro867=) rs200124802 0.00020
NM_001849.4(COL6A2):c.759A>G (p.Glu253=) rs140404854 0.00020
NM_001966.4(EHHADH):c.1938T>G (p.Ile646Met) rs140527463 0.00020
NM_003049.4(SLC10A1):c.755G>A (p.Arg252His) rs147226818 0.00020
NM_003482.4(KMT2D):c.6836G>A (p.Gly2279Glu) rs200578414 0.00020
NM_003482.4(KMT2D):c.8382C>A (p.Gly2794=) rs368967997 0.00020
NM_004006.3(DMD):c.1666G>A (p.Asp556Asn) rs182708940 0.00020
NM_004006.3(DMD):c.1809G>A (p.Leu603=) rs192176661 0.00020
NM_004006.3(DMD):c.3666T>C (p.Asn1222=) rs373281760 0.00020
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279 0.00020
NM_004006.3(DMD):c.7521C>T (p.Asn2507=) rs112516305 0.00020
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) rs142717240 0.00020
NM_004820.5(CYP7B1):c.90C>T (p.Leu30=) rs571177831 0.00020
NM_004839.4(HOMER2):c.609G>T (p.Gln203His) rs200964994 0.00020
NM_005249.5(FOXG1):c.456G>T (p.Gly152=) rs587783637 0.00020
NM_007294.4(BRCA1):c.1459G>T (p.Val487Phe) rs369588942 0.00020
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly) rs117898549 0.00020
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782 0.00020
NM_018136.5(ASPM):c.7428G>T (p.Lys2476Asn) rs200654820 0.00020
NM_022436.3(ABCG5):c.897C>T (p.Asp299=) rs373237261 0.00020
NM_022464.5(SIL1):c.1232G>A (p.Arg411His) rs192255604 0.00020
NM_024757.5(EHMT1):c.2695A>G (p.Ile899Val) rs144085805 0.00020
NM_025074.7(FRAS1):c.6530T>C (p.Val2177Ala) rs76345011 0.00020
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) rs201295052 0.00020
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys) rs138908576 0.00020
NM_054012.4(ASS1):c.765C>T (p.Asn255=) rs375579096 0.00020
NM_133379.5(TTN):c.14327T>C (p.Leu4776Ser) rs142132973 0.00020
NM_138694.4(PKHD1):c.7170T>C (p.Thr2390=) rs368101035 0.00020
NM_153240.5(NPHP3):c.2172-4A>G rs375032661 0.00020
NM_153240.5(NPHP3):c.3336T>C (p.Ala1112=) rs188431787 0.00020
NM_174878.3(CLRN1):c.9C>A (p.Ser3Arg) rs187218889 0.00020
NM_182914.3(SYNE2):c.13918-6T>C rs187859624 0.00020
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu) rs138368397 0.00020
NM_198904.4(GABRG2):c.1320G>A (p.Gly440=) rs150727562 0.00020
NM_201384.3(PLEC):c.11031C>T (p.Leu3677=) rs376779580 0.00020
NM_201384.3(PLEC):c.2785C>T (p.Leu929=) rs369676162 0.00020
NM_201384.3(PLEC):c.4076G>A (p.Arg1359His) rs574482100 0.00020
NM_201548.5(CERKL):c.900T>C (p.His300=) rs183252158 0.00020
NM_206933.4(USH2A):c.7038C>T (p.His2346=) rs145718407 0.00020
NC_000002.12:g.178719839G>A rs771244164 0.00019
NM_000023.4(SGCA):c.37+10G>T rs200626376 0.00019
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000026.4(ADSL):c.357+7G>A rs199993991 0.00019
NM_000059.4(BRCA2):c.1123C>T (p.Pro375Ser) rs80358408 0.00019
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782 0.00019
NM_000088.4(COL1A1):c.3100-6C>T rs377123276 0.00019
NM_000117.3(EMD):c.445G>C (p.Asp149His) rs2070818 0.00019
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr) rs143152201 0.00019
NM_000152.5(GAA):c.693-4G>T rs200088236 0.00019
NM_000168.6(GLI3):c.3762T>C (p.Tyr1254=) rs148043302 0.00019
NM_000180.4(GUCY2D):c.1499C>T (p.Pro500Leu) rs200211315 0.00019
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) rs144081417 0.00019
NM_000214.3(JAG1):c.2073T>C (p.Cys691=) rs200648035 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000251.3(MSH2):c.481G>A (p.Val161Ile) rs149511545 0.00019
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met) rs138695961 0.00019
NM_000271.5(NPC1):c.3591C>T (p.Ser1197=) rs191776973 0.00019
NM_000288.4(PEX7):c.188+3A>G rs200234391 0.00019
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu) rs201556985 0.00019
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) rs563581127 0.00019
NM_000337.6(SGCD):c.699+18C>G rs180898690 0.00019
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) rs146786552 0.00019
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys) rs118203532 0.00019
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_000392.5(ABCC2):c.1950G>A (p.Ser650=) rs138673546 0.00019
NM_000392.5(ABCC2):c.2499T>C (p.Val833=) rs75148532 0.00019
NM_000414.4(HSD17B4):c.1311C>T (p.Ser437=) rs369449821 0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_000443.4(ABCB4):c.3111T>C (p.Asn1037=) rs8187808 0.00019
NM_000458.4(HNF1B):c.1668C>A (p.Ala556=) rs144354798 0.00019
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr) rs142773283 0.00019
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys) rs149279509 0.00019
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp) rs138058578 0.00019
NM_000521.4(HEXB):c.1614-14C>A rs201448394 0.00019
NM_000540.3(RYR1):c.2160C>G (p.Leu720=) rs200914778 0.00019
NM_000540.3(RYR1):c.8733C>A (p.Leu2911=) rs200427576 0.00019
NM_000541.5(SAG):c.1167T>A (p.Asp389Glu) rs199798289 0.00019
NM_000548.5(TSC2):c.2295C>T (p.Ala765=) rs45509500 0.00019
NM_000702.4(ATP1A2):c.1666A>T (p.Asn556Tyr) rs141467566 0.00019
NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=) rs374857905 0.00019
NM_000726.5(CACNB4):c.*4T>C rs556761275 0.00019
NM_000784.4(CYP27A1):c.1434C>T (p.Gly478=) rs139279260 0.00019
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636 0.00019
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His) rs201312753 0.00019
NM_001083614.2(EARS2):c.280A>G (p.Met94Val) rs200139797 0.00019
NM_001101426.4(CRPPA):c.531C>T (p.His177=) rs376195897 0.00019
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=) rs371300262 0.00019
NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=) rs199530601 0.00019
NM_001127222.2(CACNA1A):c.5652C>T (p.Val1884=) rs17846921 0.00019
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=) rs371112962 0.00019
NM_001130438.3(SPTAN1):c.5106G>A (p.Leu1702=) rs373491498 0.00019
NM_001130987.2(DYSF):c.316C>T (p.Leu106=) rs374934430 0.00019
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852 0.00019
NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro) rs398123574 0.00019
NM_001164508.2(NEB):c.19295A>G (p.Gln6432Arg) rs189912759 0.00019
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122 0.00019
NM_001165963.4(SCN1A):c.694+10A>G rs373417440 0.00019
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu) rs553367989 0.00019
NM_001267550.2(TTN):c.100295G>A (p.Arg33432His) rs374876608 0.00019
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) rs368321767 0.00019
NM_001267550.2(TTN):c.101262A>G (p.Gly33754=) rs374878689 0.00019
NM_001267550.2(TTN):c.105128G>A (p.Arg35043His) rs370137295 0.00019
NM_001267550.2(TTN):c.14424G>C (p.Val4808=) rs374479775 0.00019
NM_001267550.2(TTN):c.14486A>C (p.Gln4829Pro) rs375177753 0.00019
NM_001267550.2(TTN):c.17871A>T (p.Gln5957His) rs181067357 0.00019
NM_001267550.2(TTN):c.23455G>C (p.Glu7819Gln) rs201420077 0.00019
NM_001267550.2(TTN):c.3069C>T (p.Thr1023=) rs371447978 0.00019
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met) rs72647868 0.00019
NM_001267550.2(TTN):c.39127+10A>C rs397517554 0.00019
NM_001267550.2(TTN):c.39548-8A>G rs369594816 0.00019
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu) rs368820294 0.00019
NM_001267550.2(TTN):c.5645G>A (p.Arg1882His) rs374605213 0.00019
NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile) rs377682563 0.00019
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys) rs200797552 0.00019
NM_001267550.2(TTN):c.78914C>G (p.Ser26305Cys) rs199646089 0.00019
NM_001267550.2(TTN):c.7957T>C (p.Leu2653=) rs201837864 0.00019
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile) rs374620001 0.00019
NM_001267550.2(TTN):c.86052T>C (p.Thr28684=) rs76928874 0.00019
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) rs200503016 0.00019
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His) rs141258018 0.00019
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=) rs376539252 0.00019
NM_001267550.2(TTN):c.99560A>C (p.Lys33187Thr) rs560306385 0.00019
NM_001287.6(CLCN7):c.558C>T (p.Phe186=) rs147280414 0.00019
NM_001330078.2(NRXN1):c.3129A>G (p.Val1043=) rs200698497 0.00019
NM_001360.3(DHCR7):c.729C>T (p.Pro243=) rs145284180 0.00019
NM_001360.3(DHCR7):c.99-5C>T rs372886043 0.00019
NM_001360016.2(G6PD):c.864+17A>T rs377041776 0.00019
NM_001365536.1(SCN9A):c.4110T>C (p.Cys1370=) rs199673396 0.00019
NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=) rs187558439 0.00019
NM_001374385.1(ATP8B1):c.555-3T>C rs367948617 0.00019
NM_001384140.1(PCDH15):c.4672-1564T>C rs193186244 0.00019
NM_001384732.1(CPLANE1):c.221C>T (p.Ala74Val) rs139496915 0.00019
NM_001429.4(EP300):c.2240C>T (p.Pro747Leu) rs193026103 0.00019
NM_001457.4(FLNB):c.5445C>T (p.Tyr1815=) rs755702006 0.00019
NM_001457.4(FLNB):c.5769C>T (p.Ala1923=) rs201723447 0.00019
NM_001793.6(CDH3):c.918C>T (p.Asp306=) rs201521473 0.00019
NM_001845.6(COL4A1):c.4098C>T (p.Gly1366=) rs757948524 0.00019
NM_001849.4(COL6A2):c.2961G>A (p.Thr987=) rs149845431 0.00019
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_001966.4(EHHADH):c.77C>T (p.Thr26Met) rs138013408 0.00019
NM_002206.3(ITGA7):c.1317C>T (p.Phe439=) rs200714716 0.00019
NM_002900.3(RBP3):c.1840G>A (p.Asp614Asn) rs149642039 0.00019
NM_003482.4(KMT2D):c.2214C>T (p.Ser738=) rs201219613 0.00019
NM_003482.4(KMT2D):c.2838G>A (p.Ala946=) rs376753331 0.00019
NM_003737.4(DCHS1):c.7846C>G (p.Pro2616Ala) rs150354113 0.00019
NM_004006.3(DMD):c.2166A>G (p.Lys722=) rs147580966 0.00019
NM_004006.3(DMD):c.4072-3T>C rs751657094 0.00019
NM_004006.3(DMD):c.6471T>A (p.Thr2157=) rs377080659 0.00019
NM_004086.3(COCH):c.198A>T (p.Val66=) rs28400029 0.00019
NM_004187.5(KDM5C):c.536G>A (p.Arg179His) rs201805773 0.00019
NM_004369.4(COL6A3):c.4146G>A (p.Ser1382=) rs114791158 0.00019
NM_004369.4(COL6A3):c.9444C>T (p.Asn3148=) rs144291325 0.00019
NM_004447.6(EPS8):c.2195C>T (p.Thr732Met) rs141592108 0.00019
NM_004482.4(GALNT3):c.51T>C (p.His17=) rs149612790 0.00019
NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser) rs117134265 0.00019
NM_004560.4(ROR2):c.568A>G (p.Thr190Ala) rs34574788 0.00019
NM_004698.4(PRPF3):c.501A>G (p.Thr167=) rs146995242 0.00019
NM_004817.4(TJP2):c.3150G>A (p.Leu1050=) rs141675065 0.00019
NM_004977.3(KCNC3):c.1429G>A (p.Asp477Asn) rs148033381 0.00019
NM_005045.4(RELN):c.4260G>A (p.Gly1420=) rs150518726 0.00019
NM_005055.5(RAPSN):c.1203C>T (p.Asn401=) rs757215612 0.00019
NM_005548.3(KARS1):c.482+8G>A rs377697859 0.00019
NM_005559.4(LAMA1):c.8447G>A (p.Arg2816Gln) rs200996196 0.00019
NM_006019.4(TCIRG1):c.1615G>A (p.Val539Ile) rs142539969 0.00019
NM_006261.5(PROP1):c.96G>A (p.Pro32=) rs144314831 0.00019
NM_006790.3(MYOT):c.323A>C (p.Asn108Thr) rs142416150 0.00019
NM_006922.4(SCN3A):c.363T>C (p.Ala121=) rs145171998 0.00019
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) rs200503833 0.00019
NM_012254.3(SLC27A5):c.2070C>G (p.Leu690=) rs184994408 0.00019
NM_014000.3(VCL):c.590C>T (p.Thr197Ile) rs189242810 0.00019
NM_014141.6(CNTNAP2):c.1455T>C (p.Asn485=) rs370095062 0.00019
NM_014251.3(SLC25A13):c.1354G>A (p.Val452Ile) rs143877538 0.00019
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) rs61754478 0.00019
NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr) rs200620279 0.00019
NM_014639.4(SKIC3):c.1446T>C (p.Phe482=) rs142880784 0.00019
NM_014639.4(SKIC3):c.4507C>T (p.Arg1503Cys) rs200067423 0.00019
NM_014714.4(IFT140):c.2787G>A (p.Thr929=) rs374661866 0.00019
NM_014920.5(CILK1):c.555G>A (p.Ala185=) rs138668959 0.00019
NM_015910.7(WDPCP):c.13T>C (p.Phe5Leu) rs768802269 0.00019
NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys) rs146802593 0.00019
NM_017777.4(MKS1):c.1176G>A (p.Pro392=) rs775169308 0.00019
NM_017777.4(MKS1):c.1408-3C>T rs377033273 0.00019
NM_017780.4(CHD7):c.8190G>A (p.Ala2730=) rs371898908 0.00019
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val) rs376934539 0.00019
NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys) rs139197513 0.00019
NM_020822.3(KCNT1):c.474G>A (p.Ser158=) rs139076605 0.00019
NM_021072.4(HCN1):c.159C>G (p.His53Gln) rs10066808 0.00019
NM_022124.6(CDH23):c.3486G>C (p.Gly1162=) rs397517324 0.00019
NM_022455.5(NSD1):c.6444T>C (p.Asn2148=) rs146601031 0.00019
NM_022455.5(NSD1):c.6464-5T>C rs545039997 0.00019
NM_022455.5(NSD1):c.6464-8G>T rs577262396 0.00019
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys) rs74315318 0.00019
NM_032119.4(ADGRV1):c.10550-7C>T rs191228562 0.00019
NM_032119.4(ADGRV1):c.10697T>C (p.Ile3566Thr) rs201483312 0.00019
NM_032119.4(ADGRV1):c.18782T>C (p.Leu6261Ser) rs557331348 0.00019
NM_032119.4(ADGRV1):c.2734+8A>G rs371906040 0.00019
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe) rs193030567 0.00019
NM_032409.3(PINK1):c.858G>A (p.Pro286=) rs148144773 0.00019
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln) rs138265409 0.00019
NM_080680.3(COL11A2):c.233-8G>T rs375268140 0.00019
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu) rs151319255 0.00019
NM_133379.5(TTN):c.13614A>C (p.Gln4538His) rs139344272 0.00019
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln) rs149629686 0.00019
NM_138694.4(PKHD1):c.8187C>A (p.Ala2729=) rs149310653 0.00019
NM_144498.4(OSBPL2):c.833A>G (p.Lys278Arg) rs199648498 0.00019
NM_152564.5(VPS13B):c.4225-6G>A rs199755508 0.00019
NM_170699.3(GPBAR1):c.531C>T (p.Ala177=) rs200360810 0.00019
NM_178170.3(NEK8):c.294C>G (p.Ser98=) rs140255077 0.00019
NM_181303.2(NLGN3):c.20C>T (p.Pro7Leu) rs199925687 0.00019
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His) rs148522587 0.00019
NM_182961.4(SYNE1):c.10786G>A (p.Val3596Met) rs143034104 0.00019
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp) rs199761238 0.00019
NM_182961.4(SYNE1):c.16182T>G (p.Ser5394=) rs146705789 0.00019
NM_182961.4(SYNE1):c.18480C>T (p.Asp6160=) rs142251671 0.00019
NM_182961.4(SYNE1):c.18881A>T (p.Gln6294Leu) rs140090745 0.00019
NM_182961.4(SYNE1):c.24642+3A>G rs117346210 0.00019
NM_194248.3(OTOF):c.2848G>A (p.Val950Ile) rs199613764 0.00019
NM_198525.3(KIF7):c.2586C>T (p.Arg862=) rs141097070 0.00019
NM_201384.3(PLEC):c.11574G>A (p.Thr3858=) rs370526712 0.00019
NM_201384.3(PLEC):c.12216C>T (p.Phe4072=) rs150427959 0.00019
NM_201384.3(PLEC):c.5633G>A (p.Arg1878Gln) rs373617951 0.00019
NM_201384.3(PLEC):c.8316C>T (p.Arg2772=) rs782420340 0.00019
NM_201384.3(PLEC):c.8644C>T (p.Leu2882=) rs376081492 0.00019
NM_201384.3(PLEC):c.8742C>T (p.Phe2914=) rs201211875 0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_206933.4(USH2A):c.5619C>T (p.Val1873=) rs138416665 0.00019
NM_000035.4(ALDOB):c.582T>C (p.Asp194=) rs141988626 0.00018
NM_000070.3(CAPN3):c.1668C>T (p.Ile556=) rs199884116 0.00018
NM_000117.3(EMD):c.272A>G (p.Asn91Ser) rs137977232 0.00018
NM_000145.4(FSHR):c.312G>A (p.Lys104=) rs147355964 0.00018
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu) rs528369909 0.00018
NM_000159.4(GCDH):c.1213A>G (p.Met405Val) rs141437721 0.00018
NM_000169.3(GLA):c.129C>T (p.Gly43=) rs146177035 0.00018
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys) rs138065338 0.00018
NM_000283.4(PDE6B):c.2548A>G (p.Thr850Ala) rs141647790 0.00018
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp) rs200138397 0.00018
NM_000393.5(COL5A2):c.3209G>A (p.Arg1070His) rs373288848 0.00018
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
NM_000451.4(SHOX):c.577G>A (p.Ala193Thr) rs376330042 0.00018
NM_000463.3(UGT1A1):c.1352C>T (p.Pro451Leu) rs114982090 0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325 0.00018
NM_000548.5(TSC2):c.4044C>T (p.His1348=) rs137854084 0.00018
NM_000719.7(CACNA1C):c.4140+4G>A rs111442547 0.00018
NM_001032382.2(PQBP1):c.264G>A (p.Ser88=) rs398124212 0.00018
NM_001044.5(SLC6A3):c.1515C>T (p.Ser505=) rs114563841 0.00018
NM_001130438.3(SPTAN1):c.2011+10G>A rs377437879 0.00018
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn) rs202123283 0.00018
NM_001130987.2(DYSF):c.772G>A (p.Val258Met) rs150345121 0.00018
NM_001161352.2(KCNMA1):c.192C>G (p.Pro64=) rs143562140 0.00018
NM_001164508.2(NEB):c.24520G>A (p.Ala8174Thr) rs199937246 0.00018
NM_001184880.2(PCDH19):c.1209C>T (p.Ser403=) rs372006606 0.00018
NM_001184880.2(PCDH19):c.655C>T (p.Leu219=) rs377627937 0.00018
NM_001244008.2(KIF1A):c.4554C>T (p.Ser1518=) rs775395101 0.00018
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) rs372304158 0.00018
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu) rs55906845 0.00018
NM_001267550.2(TTN):c.23965C>T (p.Arg7989Cys) rs201653851 0.00018
NM_001267550.2(TTN):c.25209T>C (p.Asp8403=) rs569860898 0.00018
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His) rs376982715 0.00018
NM_001267550.2(TTN):c.30511+3G>A rs563582627 0.00018
NM_001267550.2(TTN):c.32706G>A (p.Ala10902=) rs372124201 0.00018
NM_001267550.2(TTN):c.40581A>G (p.Glu13527=) rs775954427 0.00018
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln) rs373491468 0.00018
NM_001267550.2(TTN):c.58397G>C (p.Gly19466Ala) rs201922910 0.00018
NM_001267550.2(TTN):c.58971A>C (p.Glu19657Asp) rs200728232 0.00018
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853 0.00018
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala) rs200775919 0.00018
NM_001267550.2(TTN):c.88134A>G (p.Pro29378=) rs374612925 0.00018
NM_001267550.2(TTN):c.95961C>T (p.Ala31987=) rs369405564 0.00018
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=) rs376532382 0.00018
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=) rs369626133 0.00018
NM_001367624.2(ZNF469):c.248C>T (p.Pro83Leu) rs775103017 0.00018
NM_001374385.1(ATP8B1):c.1030-9G>A rs201532178 0.00018
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445 0.00018
NM_001457.4(FLNB):c.4390+8T>A rs377095569 0.00018
NM_001849.4(COL6A2):c.1599C>T (p.Arg533=) rs373635709 0.00018
NM_001966.4(EHHADH):c.1414G>A (p.Val472Ile) rs138187022 0.00018
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp) rs62638191 0.00018
NM_003839.4(TNFRSF11A):c.321G>A (p.Thr107=) rs772863037 0.00018
NM_004006.3(DMD):c.2291A>G (p.Asn764Ser) rs199588981 0.00018
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu) rs754765424 0.00018
NM_004006.3(DMD):c.5933G>T (p.Arg1978Leu) rs148135406 0.00018
NM_004006.3(DMD):c.94-3C>T rs373907950 0.00018
NM_004086.3(COCH):c.87C>T (p.Pro29=) rs774290415 0.00018
NM_004463.3(FGD1):c.2289G>A (p.Lys763=) rs150865566 0.00018
NM_005045.4(RELN):c.8863C>T (p.Arg2955Cys) rs114501042 0.00018
NM_005592.4(MUSK):c.2368G>A (p.Val790Met) rs199476083 0.00018
NM_005633.4(SOS1):c.*4C>T rs188849286 0.00018
NM_006218.4(PIK3CA):c.2985C>T (p.Ala995=) rs201884756 0.00018
NM_014874.4(MFN2):c.175+9G>A rs373340717 0.00018
NM_017433.5(MYO3A):c.2506-1G>A rs201023600 0.00018
NM_018136.5(ASPM):c.8228G>A (p.Arg2743Gln) rs202193200 0.00018
NM_020822.3(KCNT1):c.867C>A (p.Ile289=) rs761045901 0.00018
NM_022124.6(CDH23):c.3431-6A>T rs377614198 0.00018
NM_022455.5(NSD1):c.8071G>A (p.Ala2691Thr) rs201823140 0.00018
NM_024757.5(EHMT1):c.2970G>T (p.Gln990His) rs143669310 0.00018
NM_080680.3(COL11A2):c.2017-5T>G rs200523422 0.00018
NM_182914.3(SYNE2):c.16405C>A (p.Pro5469Thr) rs148492034 0.00018
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856 0.00018
NM_182961.4(SYNE1):c.22923C>T (p.Ala7641=) rs2296253 0.00018
NM_182961.4(SYNE1):c.24150C>T (p.His8050=) rs140259310 0.00018
NM_194248.3(OTOF):c.4946T>C (p.Ile1649Thr) rs146618661 0.00018
NM_194318.4(B3GLCT):c.1104C>T (p.Ser368=) rs114425388 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met) rs201855218 0.00018
NM_201384.3(PLEC):c.6416G>A (p.Arg2139His) rs372652727 0.00018
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000090.4(COL3A1):c.4086C>T (p.Ser1362=) rs779774302 0.00017
NM_000112.4(SLC26A2):c.1410A>G (p.Val470=) rs115777661 0.00017
NM_000152.5(GAA):c.1848C>T (p.Asp616=) rs377175810 0.00017
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110 0.00017
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu) rs190298665 0.00017
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000392.5(ABCC2):c.3258+1G>A rs762243203 0.00017
NM_000434.4(NEU1):c.649G>A (p.Val217Met) rs28940583 0.00017
NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu) rs150946659 0.00017
NM_000540.3(RYR1):c.14061G>A (p.Leu4687=) rs201629205 0.00017
NM_000548.5(TSC2):c.148A>G (p.Met50Val) rs140618379 0.00017
NM_000719.7(CACNA1C):c.5106G>A (p.Leu1702=) rs541967618 0.00017
NM_001039876.3(SYNE4):c.213C>T (p.Ala71=) rs182159084 0.00017
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr) rs199498900 0.00017
NM_001083961.2(WDR62):c.1233+7C>G rs537771936 0.00017
NM_001111.5(ADAR):c.2496+9G>A rs199698434 0.00017
NM_001111125.3(IQSEC2):c.2322T>C (p.Tyr774=) rs147706810 0.00017
NM_001122630.2(CDKN1C):c.669C>G (p.Gly223=) rs546016935 0.00017
NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His) rs727503832 0.00017
NM_001130987.2(DYSF):c.3756T>C (p.Tyr1252=) rs141720146 0.00017
NM_001159699.2(FHL1):c.409G>A (p.Val137Ile) rs139402062 0.00017
NM_001177316.2(SLC34A3):c.448+1G>A rs150841256 0.00017
NM_001194998.2(CEP152):c.4087C>T (p.Gln1363Ter) rs201442213 0.00017
NM_001206979.2(NR1H4):c.658G>T (p.Ala220Ser) rs180957965 0.00017
NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn) rs373378672 0.00017
NM_001267550.2(TTN):c.22439A>C (p.Gln7480Pro) rs201065037 0.00017
NM_001267550.2(TTN):c.27846C>T (p.Ser9282=) rs182355009 0.00017
NM_001267550.2(TTN):c.30513A>T (p.Glu10171Asp) rs577066020 0.00017
NM_001267550.2(TTN):c.54148C>T (p.Arg18050Cys) rs55734111 0.00017
NM_001267550.2(TTN):c.54718G>A (p.Val18240Ile) rs375141729 0.00017
NM_001267550.2(TTN):c.61556G>A (p.Arg20519Gln) rs727504191 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_001278116.2(L1CAM):c.256G>A (p.Val86Met) rs149309725 0.00017
NM_001297.5(CNGB1):c.1478C>T (p.Pro493Leu) rs148555948 0.00017
NM_001351132.2(PEX5):c.316+3G>A rs200776790 0.00017
NM_001365536.1(SCN9A):c.1177C>T (p.Leu393=) rs184773311 0.00017
NM_001368397.1(FRMPD4):c.3379G>A (p.Glu1127Lys) rs143423231 0.00017
NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg) rs727503147 0.00017
NM_001614.5(ACTG1):c.825C>T (p.His275=) rs145303691 0.00017
NM_001848.3(COL6A1):c.2091G>A (p.Met697Ile) rs372750707 0.00017
NM_002025.4(AFF2):c.2424C>T (p.Asp808=) rs139807832 0.00017
NM_002335.4(LRP5):c.*4C>T rs374104266 0.00017
NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp) rs148208753 0.00017
NM_002618.4(PEX13):c.856G>A (p.Val286Ile) rs201699810 0.00017
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp) rs200257554 0.00017
NM_002693.3(POLG):c.2028G>A (p.Ala676=) rs373550219 0.00017
NM_003673.4(TCAP):c.270G>A (p.Pro90=) rs372538567 0.00017
NM_003742.4(ABCB11):c.2768C>T (p.Thr923Ile) rs199514789 0.00017
NM_004006.3(DMD):c.5076A>G (p.Thr1692=) rs145181319 0.00017
NM_004369.4(COL6A3):c.3751G>A (p.Val1251Ile) rs199646208 0.00017
NM_004369.4(COL6A3):c.4006G>A (p.Val1336Ile) rs144051775 0.00017
NM_004369.4(COL6A3):c.7401G>A (p.Ser2467=) rs377572272 0.00017
NM_004369.4(COL6A3):c.8805G>A (p.Ala2935=) rs200111289 0.00017
NM_004380.3(CREBBP):c.6340G>A (p.Gly2114Ser) rs139169188 0.00017
NM_004393.6(DAG1):c.1308G>A (p.Thr436=) rs143763229 0.00017
NM_004463.3(FGD1):c.27C>T (p.Gly9=) rs377441190 0.00017
NM_004560.4(ROR2):c.380C>T (p.Thr127Met) rs375080866 0.00017
NM_004715.5(CTDP1):c.669G>A (p.Thr223=) rs146831211 0.00017
NM_004817.4(TJP2):c.705G>T (p.Arg235=) rs750625862 0.00017
NM_004959.5(NR5A1):c.1266C>T (p.Cys422=) rs140408680 0.00017
NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln) rs200010849 0.00017
NM_005431.2(XRCC2):c.613T>G (p.Ser205Ala) rs56103026 0.00017
NM_005802.5(TOPORS):c.2019T>A (p.Arg673=) rs760719392 0.00017
NM_005802.5(TOPORS):c.2862A>C (p.Thr954=) rs143560726 0.00017
NM_005989.4(AKR1D1):c.396C>T (p.Tyr132=) rs149920599 0.00017
NM_006005.3(WFS1):c.975C>T (p.Asn325=) rs141177727 0.00017
NM_006019.4(TCIRG1):c.1227C>T (p.His409=) rs145080707 0.00017
NM_006766.5(KAT6A):c.1342A>G (p.Ser448Gly) rs149459548 0.00017
NM_007078.3(LDB3):c.1335C>T (p.Tyr445=) rs587781024 0.00017
NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg) rs3747834 0.00017
NM_014141.6(CNTNAP2):c.515T>C (p.Ile172Thr) rs201326295 0.00017
NM_014780.5(CUL7):c.1570-8G>A rs372757013 0.00017
NM_014989.7(RIMS1):c.3399-4A>G rs368216570 0.00017
NM_015102.5(NPHP4):c.3028G>A (p.Asp1010Asn) rs200166175 0.00017
NM_015102.5(NPHP4):c.4107G>A (p.Pro1369=) rs200569946 0.00017
NM_017739.4(POMGNT1):c.1831C>T (p.Leu611=) rs367848204 0.00017
NM_017780.4(CHD7):c.6103+6T>C rs371509438 0.00017
NM_017780.4(CHD7):c.6247C>T (p.Pro2083Ser) rs370972259 0.00017
NM_018006.5(TRMU):c.853G>A (p.Val285Ile) rs147754663 0.00017
NM_019098.5(CNGB3):c.1898A>G (p.Asp633Gly) rs139337746 0.00017
NM_022124.6(CDH23):c.6426A>G (p.Leu2142=) rs371932558 0.00017
NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln) rs146014987 0.00017
NM_024592.5(SRD5A3):c.43C>T (p.Leu15=) rs376944136 0.00017
NM_024596.5(MCPH1):c.1443C>T (p.Ile481=) rs185736569 0.00017
NM_024757.5(EHMT1):c.1947G>A (p.Ser649=) rs139206060 0.00017
NM_025074.7(FRAS1):c.990A>G (p.Glu330=) rs374045395 0.00017
NM_030665.4(RAI1):c.5379C>T (p.Gly1793=) rs372539998 0.00017
NM_032043.3(BRIP1):c.854A>G (p.His285Arg) rs141055990 0.00017
NM_032119.4(ADGRV1):c.16640G>A (p.Arg5547His) rs200907244 0.00017
NM_032119.4(ADGRV1):c.9558C>T (p.Thr3186=) rs201089046 0.00017
NM_033337.3(CAV3):c.234G>A (p.Thr78=) rs148846096 0.00017
NM_058246.4(DNAJB6):c.706G>A (p.Asp236Asn) rs556999563 0.00017
NM_130837.3(OPA1):c.70A>G (p.Ile24Val) rs201520438 0.00017
NM_133379.5(TTN):c.15981G>A (p.Gln5327=) rs186841908 0.00017
NM_138691.3(TMC1):c.2070G>A (p.Ala690=) rs145757452 0.00017
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=) rs200679577 0.00017
NM_138694.4(PKHD1):c.8022G>T (p.Leu2674=) rs755688912 0.00017
NM_138694.4(PKHD1):c.831C>T (p.Ile277=) rs142678486 0.00017
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys) rs139141291 0.00017
NM_182914.3(SYNE2):c.14139+5G>A rs374778697 0.00017
NM_182914.3(SYNE2):c.19417G>C (p.Asp6473His) rs140940287 0.00017
NM_182961.4(SYNE1):c.582-9A>G rs200412221 0.00017
NM_201384.3(PLEC):c.10011G>A (p.Thr3337=) rs367762942 0.00017
NM_201384.3(PLEC):c.10521C>T (p.Asp3507=) rs201905804 0.00017
NM_201384.3(PLEC):c.4560C>T (p.Arg1520=) rs782412831 0.00017
NM_201384.3(PLEC):c.7383G>T (p.Lys2461Asn) rs371673069 0.00017
NM_201384.3(PLEC):c.7527C>T (p.Ile2509=) rs782605503 0.00017
NM_201384.3(PLEC):c.801C>T (p.Asp267=) rs202218097 0.00017
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu) rs140330831 0.00016
NM_000070.3(CAPN3):c.1830C>T (p.Asn610=) rs202019404 0.00016
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=) rs375914028 0.00016
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310 0.00016
NM_000145.4(FSHR):c.446+10T>C rs200504733 0.00016
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000214.3(JAG1):c.1628G>A (p.Arg543His) rs544877858 0.00016
NM_000251.3(MSH2):c.1275A>G (p.Glu425=) rs63751650 0.00016
NM_000256.3(MYBPC3):c.246T>C (p.Ile82=) rs372502369 0.00016
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=) rs570316231 0.00016
NM_000271.5(NPC1):c.3732C>T (p.Leu1244=) rs1621962 0.00016
NM_000273.3(GPR143):c.541G>A (p.Val181Met) rs200870584 0.00016
NM_000275.3(OCA2):c.1239+5G>C rs757119713 0.00016
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) rs142899308 0.00016
NM_000334.4(SCN4A):c.963C>T (p.Asn321=) rs748863960 0.00016
NM_000335.5(SCN5A):c.5334G>A (p.Thr1778=) rs41311121 0.00016
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00016
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_000350.3(ABCA4):c.5312+8G>A rs187953772 0.00016
NM_000368.5(TSC1):c.201A>G (p.Pro67=) rs371555137 0.00016
NM_000368.5(TSC1):c.3435G>A (p.Pro1145=) rs140352085 0.00016
NM_000443.4(ABCB4):c.366A>G (p.Gly122=) rs113445400 0.00016
NM_000443.4(ABCB4):c.80+5A>C rs186976987 0.00016
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_000492.4(CFTR):c.-4G>C rs369326781 0.00016
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_000540.3(RYR1):c.2319C>T (p.Asp773=) rs374924686 0.00016
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=) rs149185729 0.00016
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp) rs144777676 0.00016
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673 0.00016
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val) rs374936223 0.00016
NM_000709.4(BCKDHA):c.1211A>G (p.Asn404Ser) rs148090804 0.00016
NM_000784.4(CYP27A1):c.120C>T (p.Ala40=) rs150389057 0.00016
NM_001024630.4(RUNX2):c.151C>A (p.Gln51Lys) rs368475300 0.00016
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594 0.00016
NM_001042472.3(ABHD12):c.787+3G>A rs202150912 0.00016
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala) rs144338642 0.00016
NM_001083961.2(WDR62):c.189G>T (p.Glu63Asp) rs201053854 0.00016
NM_001126121.2(SLC25A19):c.504C>T (p.Ser168=) rs148474667 0.00016
NM_001127222.2(CACNA1A):c.3016C>T (p.Arg1006Trp) rs757026025 0.00016
NM_001127222.2(CACNA1A):c.5170G>A (p.Asp1724Asn) rs371595464 0.00016
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) rs200957354 0.00016
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=) rs139983909 0.00016
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met) rs200927282 0.00016
NM_001164508.2(NEB):c.3879+8G>A rs376511134 0.00016
NM_001165963.4(SCN1A):c.1797G>A (p.Glu599=) rs145035963 0.00016
NM_001165963.4(SCN1A):c.1889G>A (p.Arg630Gln) rs145670933 0.00016
NM_001165963.4(SCN1A):c.4129A>G (p.Ile1377Val) rs762317674 0.00016
NM_001171.6(ABCC6):c.1424A>T (p.His475Leu) rs151187637 0.00016
NM_001200.4(BMP2):c.1041G>A (p.Thr347=) rs143654141 0.00016
NM_001252024.2(TRPM1):c.2653A>G (p.Ile885Val) rs201650867 0.00016
NM_001267550.2(TTN):c.100049C>T (p.Thr33350Ile) rs370300135 0.00016
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783 0.00016
NM_001267550.2(TTN):c.104590C>A (p.Pro34864Thr) rs756640084 0.00016
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) rs200497615 0.00016
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser) rs201888760 0.00016
NM_001267550.2(TTN):c.12332C>G (p.Ala4111Gly) rs140289517 0.00016
NM_001267550.2(TTN):c.18407G>A (p.Arg6136Gln) rs117551279 0.00016
NM_001267550.2(TTN):c.28547G>A (p.Arg9516His) rs374156904 0.00016
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val) rs371826762 0.00016
NM_001267550.2(TTN):c.4291C>T (p.Arg1431Trp) rs139636676 0.00016
NM_001267550.2(TTN):c.43315C>T (p.Arg14439Cys) rs200914097 0.00016
NM_001267550.2(TTN):c.53881+5G>A rs753527304 0.00016
NM_001267550.2(TTN):c.54104C>T (p.Ala18035Val) rs182445366 0.00016
NM_001267550.2(TTN):c.54490T>C (p.Tyr18164His) rs370135374 0.00016
NM_001267550.2(TTN):c.54740T>C (p.Met18247Thr) rs200585270 0.00016
NM_001267550.2(TTN):c.56456A>G (p.Asn18819Ser) rs201337786 0.00016
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=) rs375006117 0.00016
NM_001267550.2(TTN):c.64898G>A (p.Arg21633Gln) rs141965360 0.00016
NM_001267550.2(TTN):c.66491A>T (p.Lys22164Ile) rs371081043 0.00016
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=) rs72646877 0.00016
NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp) rs187868672 0.00016
NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser) rs776256093 0.00016
NM_001267550.2(TTN):c.79883G>C (p.Arg26628Pro) rs201091376 0.00016
NM_001267550.2(TTN):c.85443A>G (p.Ala28481=) rs373326137 0.00016
NM_001267550.2(TTN):c.87367A>C (p.Ser29123Arg) rs375198596 0.00016
NM_001267550.2(TTN):c.87771C>A (p.Gly29257=) rs72648230 0.00016
NM_001267550.2(TTN):c.87878G>A (p.Arg29293His) rs202001776 0.00016
NM_001267550.2(TTN):c.90793C>T (p.Arg30265Trp) rs200022152 0.00016
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln) rs200141081 0.00016
NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr) rs373727636 0.00016
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His) rs397517756 0.00016
NM_001267550.2(TTN):c.96138A>T (p.Ile32046=) rs368154623 0.00016
NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=) rs368423941 0.00016
NM_001267550.2(TTN):c.97055G>A (p.Arg32352His) rs575939045 0.00016
NM_001267550.2(TTN):c.9857A>G (p.Lys3286Arg) rs200052398 0.00016
NM_001347702.2(SYNE1):c.1446A>G (p.Val482=) rs377088951 0.00016
NM_001351132.2(PEX5):c.396T>C (p.Thr132=) rs370827246 0.00016
NM_001367624.2(ZNF469):c.8489G>C (p.Gly2830Ala) rs541325052 0.00016
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737 0.00016
NM_001378454.1(ALMS1):c.11328C>T (p.His3776=) rs45596541 0.00016
NM_001384474.1(LOXHD1):c.6462C>G (p.Val2154=) rs141737883 0.00016
NM_001384732.1(CPLANE1):c.4388C>T (p.Thr1463Ile) rs202103224 0.00016
NM_001429.4(EP300):c.5711A>C (p.Gln1904Pro) rs140187237 0.00016
NM_001482.3(GATM):c.692C>G (p.Ser231Cys) rs202225656 0.00016
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp) rs201646745 0.00016
NM_001848.3(COL6A1):c.1398+10G>A rs143438559 0.00016
NM_001848.3(COL6A1):c.429-8C>T rs768951384 0.00016
NM_001849.4(COL6A2):c.1129C>T (p.Arg377Cys) rs144801620 0.00016
NM_001849.4(COL6A2):c.786C>G (p.Gly262=) rs145500808 0.00016
NM_001927.4(DES):c.643G>A (p.Val215Met) rs144908941 0.00016
NM_002241.5(KCNJ10):c.219G>A (p.Ala73=) rs144495959 0.00016
NM_002335.4(LRP5):c.1299C>T (p.Thr433=) rs145362529 0.00016
NM_002633.3(PGM1):c.1600-3C>T rs375450688 0.00016
NM_002693.3(POLG):c.186A>G (p.Leu62=) rs745310138 0.00016
NM_002857.4(PEX19):c.21C>G (p.Gly7=) rs140039683 0.00016
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_003193.5(TBCE):c.847A>T (p.Ile283Phe) rs200022583 0.00016
NM_003482.4(KMT2D):c.1010C>T (p.Ser337Leu) rs200245957 0.00016
NM_003482.4(KMT2D):c.11043G>A (p.Gln3681=) rs371444130 0.00016
NM_003482.4(KMT2D):c.6264C>T (p.Thr2088=) rs370414767 0.00016
NM_003482.4(KMT2D):c.9343C>T (p.Leu3115Phe) rs587778471 0.00016
NM_003722.5(TP63):c.992+10G>A rs373106660 0.00016
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00016
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) rs201302282 0.00016
NM_004006.3(DMD):c.8974G>A (p.Val2992Met) rs201691420 0.00016
NM_004260.4(RECQL4):c.1391-4G>T rs190388213 0.00016
NM_004385.5(VCAN):c.7065C>T (p.Ile2355=) rs727504214 0.00016
NM_004393.6(DAG1):c.1719C>T (p.His573=) rs146157416 0.00016
NM_004813.4(PEX16):c.999C>T (p.Tyr333=) rs146657010 0.00016
NM_005045.4(RELN):c.2376T>C (p.Gly792=) rs398124191 0.00016
NM_005379.4(MYO1A):c.2684T>C (p.Met895Thr) rs148582008 0.00016
NM_005529.7(HSPG2):c.7438C>T (p.Arg2480Trp) rs143437991 0.00016
NM_005633.4(SOS1):c.109A>G (p.Thr37Ala) rs150565592 0.00016
NM_005633.4(SOS1):c.2966G>A (p.Arg989Lys) rs202043599 0.00016
NM_005996.4(TBX3):c.1080G>C (p.Glu360Asp) rs376189812 0.00016
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys) rs200099217 0.00016
NM_006031.6(PCNT):c.9840-4G>A rs199857861 0.00016
NM_006516.4(SLC2A1):c.972+7del rs531385270 0.00016
NM_006662.3(SRCAP):c.7723T>A (p.Ser2575Thr) rs368587038 0.00016
NM_006915.3(RP2):c.30G>A (p.Lys10=) rs782402689 0.00016
NM_006922.4(SCN3A):c.2003G>A (p.Gly668Glu) rs199975643 0.00016
NM_007254.4(PNKP):c.1413T>C (p.His471=) rs370017666 0.00016
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp) rs80357075 0.00016
NM_012232.6(CAVIN1):c.*10G>A rs200409122 0.00016
NM_012470.4(TNPO3):c.30C>T (p.Leu10=) rs138263703 0.00016
NM_013382.7(POMT2):c.1206A>C (p.Pro402=) rs142479943 0.00016
NM_014141.6(CNTNAP2):c.3600G>A (p.Ser1200=) rs117876038 0.00016
NM_014363.6(SACS):c.11703T>C (p.Asn3901=) rs146154135 0.00016
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) rs76872266 0.00016
NM_015272.5(RPGRIP1L):c.3616+7A>G rs373003699 0.00016
NM_015972.4(POLR1D):c.177C>T (p.Ile59=) rs144597856 0.00016
NM_016219.5(MAN1B1):c.1312C>T (p.Leu438=) rs150942110 0.00016
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp) rs185873402 0.00016
NM_016356.5(DCDC2):c.1066G>A (p.Ala356Thr) rs183480366 0.00016
NM_016729.3(FOLR1):c.357+8T>A rs886042924 0.00016
NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser) rs200644351 0.00016
NM_017780.4(CHD7):c.4851T>C (p.Gly1617=) rs181927766 0.00016
NM_018136.5(ASPM):c.1980C>T (p.Ile660=) rs151087446 0.00016
NM_018941.4(CLN8):c.806A>T (p.Glu269Val) rs139003032 0.00016
NM_019098.5(CNGB3):c.474C>T (p.Pro158=) rs151230930 0.00016
NM_022124.6(CDH23):c.6050-10C>T rs560760228 0.00016
NM_022455.5(NSD1):c.3088T>C (p.Leu1030=) rs61756006 0.00016
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser) rs373932824 0.00016
NM_025074.7(FRAS1):c.4308+10G>T rs146718957 0.00016
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=) rs182851622 0.00016
NM_025137.4(SPG11):c.979C>G (p.Leu327Val) rs146109825 0.00016
NM_030665.4(RAI1):c.1476C>T (p.Pro492=) rs200887225 0.00016
NM_030665.4(RAI1):c.4693G>A (p.Val1565Met) rs368106957 0.00016
NM_032119.4(ADGRV1):c.1056G>A (p.Pro352=) rs115239207 0.00016
NM_032119.4(ADGRV1):c.17613G>A (p.Gln5871=) rs371091564 0.00016
NM_054027.6(ANKH):c.846A>G (p.Thr282=) rs139013878 0.00016
NM_080680.3(COL11A2):c.4863+7G>A rs200947059 0.00016
NM_080916.3(DGUOK):c.366G>C (p.Gln122His) rs199645258 0.00016
NM_133379.5(TTN):c.12524C>A (p.Ser4175Tyr) rs72647899 0.00016
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=) rs200511208 0.00016
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=) rs138989655 0.00016
NM_138694.4(PKHD1):c.633G>A (p.Gly211=) rs144025892 0.00016
NM_170707.4(LMNA):c.1656C>T (p.Asp552=) rs370219874 0.00016
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn) rs373671419 0.00016
NM_170707.4(LMNA):c.895A>G (p.Ile299Val) rs150924946 0.00016
NM_173660.5(DOK7):c.957C>G (p.Pro319=) rs777573281 0.00016
NM_174878.3(CLRN1):c.226T>C (p.Leu76=) rs139829306 0.00016
NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met) rs202173395 0.00016
NM_201384.3(PLEC):c.11823C>T (p.Asp3941=) rs201426199 0.00016
NM_201384.3(PLEC):c.12444G>A (p.Thr4148=) rs143548638 0.00016
NM_201384.3(PLEC):c.2535C>T (p.Ser845=) rs199721954 0.00016
NM_201384.3(PLEC):c.4446G>A (p.Ala1482=) rs782202249 0.00016
NM_201384.3(PLEC):c.4800C>T (p.His1600=) rs149044728 0.00016
NM_201384.3(PLEC):c.9692G>A (p.Arg3231His) rs377610697 0.00016
NM_206933.4(USH2A):c.9037G>A (p.Ala3013Thr) rs149813671 0.00016
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr) rs528342000 0.00016
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964 0.00015
NM_000152.5(GAA):c.1332T>C (p.Pro444=) rs200007324 0.00015
NM_000152.5(GAA):c.368G>A (p.Gly123Glu) rs138034915 0.00015
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_000214.3(JAG1):c.1806C>T (p.His602=) rs764290237 0.00015
NM_000260.4(MYO7A):c.3404C>A (p.Ser1135Tyr) rs376688581 0.00015
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr) rs373435883 0.00015
NM_000271.5(NPC1):c.445G>A (p.Gly149Arg) rs143205855 0.00015
NM_000316.3(PTH1R):c.638+9G>A rs371052201 0.00015
NM_000337.6(SGCD):c.123C>G (p.Leu41=) rs200670993 0.00015
NM_000371.4(TTR):c.384C>T (p.Ala128=) rs143906738 0.00015
NM_000430.4(PAFAH1B1):c.1110G>A (p.Lys370=) rs147983048 0.00015
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) rs139444207 0.00015
NM_000478.6(ALPL):c.436G>A (p.Glu146Lys) rs138587317 0.00015
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val) rs121909021 0.00015
NM_000492.4(CFTR):c.360G>A (p.Ala120=) rs1800077 0.00015
NM_000548.5(TSC2):c.300G>A (p.Ala100=) rs45517100 0.00015
NM_000702.4(ATP1A2):c.1092G>A (p.Thr364=) rs55741021 0.00015
NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro) rs369438564 0.00015
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660 0.00015
NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln) rs147003118 0.00015
NM_001079802.2(FKTN):c.333T>C (p.Thr111=) rs141729611 0.00015
NM_001083961.2(WDR62):c.3087C>T (p.Cys1029=) rs141344823 0.00015
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=) rs370735674 0.00015
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His) rs185957513 0.00015
NM_001130987.2(DYSF):c.1140C>T (p.Asp380=) rs373744398 0.00015
NM_001130987.2(DYSF):c.279C>T (p.Leu93=) rs138870937 0.00015
NM_001267550.2(TTN):c.104364C>T (p.Ser34788=) rs181679744 0.00015
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln) rs115150240 0.00015
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser) rs200355367 0.00015
NM_001267550.2(TTN):c.26928G>A (p.Leu8976=) rs370973715 0.00015
NM_001267550.2(TTN):c.45014T>C (p.Leu15005Pro) rs369992659 0.00015
NM_001267550.2(TTN):c.48624T>C (p.Pro16208=) rs72677240 0.00015
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln) rs367566671 0.00015
NM_001267550.2(TTN):c.80527T>C (p.Leu26843=) rs142004835 0.00015
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser) rs186234393 0.00015
NM_001267550.2(TTN):c.93570T>A (p.Asn31190Lys) rs746309005 0.00015
NM_001292063.2(OTOG):c.2871G>A (p.Val957=) rs539784682 0.00015
NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val) rs532329866 0.00015
NM_001351132.2(PEX5):c.129A>G (p.Gly43=) rs932238098 0.00015
NM_001376.5(DYNC1H1):c.3156+5G>A rs200905961 0.00015
NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His) rs148321416 0.00015
NM_001845.6(COL4A1):c.807+3C>T rs192723236 0.00015
NM_001849.4(COL6A2):c.2331C>T (p.Cys777=) rs181711180 0.00015
NM_001849.4(COL6A2):c.2850C>T (p.Gly950=) rs751192681 0.00015
NM_001927.4(DES):c.243C>T (p.Ser81=) rs201594392 0.00015
NM_002437.5(MPV17):c.461+2T>C rs138199394 0.00015
NM_002485.5(NBN):c.38-10T>A rs556807466 0.00015
NM_002693.3(POLG):c.1356T>C (p.Tyr452=) rs3176179 0.00015
NM_002979.5(SCP2):c.348C>T (p.Val116=) rs202234745 0.00015
NM_003482.4(KMT2D):c.1378C>A (p.Pro460Thr) rs201089405 0.00015
NM_003482.4(KMT2D):c.2232A>C (p.Ser744=) rs200155807 0.00015
NM_003482.4(KMT2D):c.5526T>C (p.Asp1842=) rs137955659 0.00015
NM_004006.3(DMD):c.9486G>A (p.Glu3162=) rs370724251 0.00015
NM_004369.4(COL6A3):c.1264G>A (p.Val422Met) rs114511558 0.00015
NM_004369.4(COL6A3):c.5652C>T (p.Thr1884=) rs200285455 0.00015
NM_004380.3(CREBBP):c.833A>C (p.Gln278Pro) rs577305576 0.00015
NM_004385.5(VCAN):c.8621C>T (p.Ala2874Val) rs147798761 0.00015
NM_004614.5(TK2):c.680C>T (p.Pro227Leu) rs754140768 0.00015
NM_004817.4(TJP2):c.1473C>A (p.Ala491=) rs138509345 0.00015
NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro) rs760663911 0.00015
NM_007255.3(B4GALT7):c.687C>T (p.Asp229=) rs756942664 0.00015
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=) rs376020564 0.00015
NM_017780.4(CHD7):c.8446T>C (p.Leu2816=) rs375204972 0.00015
NM_022356.4(P3H1):c.1721-4C>T rs200901466 0.00015
NM_022437.3(ABCG8):c.342G>A (p.Leu114=) rs150970273 0.00015
NM_022455.5(NSD1):c.8048A>G (p.Gln2683Arg) rs374110615 0.00015
NM_024301.5(FKRP):c.1405C>T (p.Leu469=) rs143129484 0.00015
NM_024301.5(FKRP):c.336C>T (p.Ala112=) rs1054339656 0.00015
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_030665.4(RAI1):c.1740G>A (p.Pro580=) rs138768616 0.00015
NM_030665.4(RAI1):c.2422G>A (p.Gly808Arg) rs746952369 0.00015
NM_032119.4(ADGRV1):c.2538G>A (p.Leu846=) rs375415491 0.00015
NM_138694.4(PKHD1):c.4854C>T (p.Ile1618=) rs140674740 0.00015
NM_139058.3(ARX):c.1119+6C>T rs201300786 0.00015
NM_153240.5(NPHP3):c.621A>G (p.Val207=) rs139693694 0.00015
NM_153240.5(NPHP3):c.670+6T>C rs190074663 0.00015
NM_153638.4(PANK2):c.280C>G (p.Arg94Gly) rs199680057 0.00015
NM_182914.3(SYNE2):c.8005A>G (p.Thr2669Ala) rs374946613 0.00015
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His) rs147667464 0.00015
NM_182961.4(SYNE1):c.25120-6A>G rs201898019 0.00015
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe) rs200424447 0.00015
NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=) rs185829704 0.00015
NM_194248.3(OTOF):c.446C>T (p.Thr149Met) rs140454738 0.00015
NM_198904.4(GABRG2):c.768C>T (p.Ser256=) rs201672465 0.00015
NM_201384.3(PLEC):c.10417G>A (p.Gly3473Ser) rs201765507 0.00015
NM_201384.3(PLEC):c.11597G>A (p.Arg3866His) rs377150241 0.00015
NM_201384.3(PLEC):c.11657G>A (p.Arg3886His) rs368152307 0.00015
NM_201384.3(PLEC):c.3279G>A (p.Leu1093=) rs371818099 0.00015
NM_201384.3(PLEC):c.5520C>T (p.Ala1840=) rs374790646 0.00015
NM_206933.4(USH2A):c.1486A>C (p.Thr496Pro) rs145114473 0.00015
NM_206933.4(USH2A):c.1590A>T (p.Thr530=) rs144343161 0.00015
NM_206933.4(USH2A):c.9008T>C (p.Val3003Ala) rs138574386 0.00015
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile) rs375014127 0.00015
NM_213599.3(ANO5):c.279C>T (p.Asp93=) rs148516756 0.00015
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084 0.00014
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys) rs138945081 0.00014
NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys) rs187046823 0.00014
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656 0.00014
NM_000059.4(BRCA2):c.502C>A (p.Pro168Thr) rs80358726 0.00014
NM_000083.3(CLCN1):c.1392C>T (p.Phe464=) rs201919331 0.00014
NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380 0.00014
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000117.3(EMD):c.537G>A (p.Leu179=) rs368661339 0.00014
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999 0.00014
NM_000152.5(GAA):c.1593C>T (p.Asp531=) rs138732016 0.00014
NM_000152.5(GAA):c.2052G>A (p.Pro684=) rs546463058 0.00014
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931 0.00014
NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala) rs143966918 0.00014
NM_000268.4(NF2):c.107A>G (p.Asn36Ser) rs372279458 0.00014
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile) rs757475924 0.00014
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587 0.00014
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000368.5(TSC1):c.532G>A (p.Val178Ile) rs118203395 0.00014
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146 0.00014
NM_000426.4(LAMA2):c.7395T>C (p.Asp2465=) rs140483001 0.00014
NM_000492.4(CFTR):c.2559T>C (p.Ile853=) rs1800104 0.00014
NM_000528.4(MAN2B1):c.1928+10G>C rs200579436 0.00014
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_000540.3(RYR1):c.641C>T (p.Thr214Met) rs727504129 0.00014
NM_000543.5(SMPD1):c.56A>G (p.Gln19Arg) rs144465428 0.00014
NM_000543.5(SMPD1):c.708G>A (p.Pro236=) rs374604948 0.00014
NM_000543.5(SMPD1):c.808G>A (p.Gly270Ser) rs202244080 0.00014
NM_000548.5(TSC2):c.4493+7C>A rs199943270 0.00014
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112 0.00014
NM_000719.7(CACNA1C):c.4322C>T (p.Thr1441Met) rs727503835 0.00014
NM_000747.3(CHRNB1):c.1217+9A>G rs145242880 0.00014
NM_000780.4(CYP7A1):c.297A>G (p.Lys99=) rs184906718 0.00014
NM_000883.4(IMPDH1):c.1386G>A (p.Leu462=) rs144587211 0.00014
NM_000942.5(PPIB):c.569G>A (p.Arg190Gln) rs200864554 0.00014
NM_001004334.4(GPR179):c.5058C>T (p.Ala1686=) rs376750375 0.00014
NM_001005361.3(DNM2):c.789G>A (p.Pro263=) rs199976453 0.00014
NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp) rs201989984 0.00014
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His) rs79457258 0.00014
NM_001077365.2(POMT1):c.129C>T (p.Asp43=) rs200465419 0.00014
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=) rs370868704 0.00014
NM_001111125.3(IQSEC2):c.1926G>A (p.Pro642=) rs782748026 0.00014
NM_001127222.2(CACNA1A):c.796G>A (p.Gly266Ser) rs17846908 0.00014
NM_001128178.3(NPHP1):c.1913A>G (p.Gln638Arg) rs186950965 0.00014
NM_001130438.3(SPTAN1):c.7161-8G>A rs202180736 0.00014
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=) rs191337920 0.00014
NM_001130987.2(DYSF):c.5010C>T (p.Phe1670=) rs151276652 0.00014
NM_001164508.2(NEB):c.539A>G (p.Lys180Arg) rs200719359 0.00014
NM_001165963.4(SCN1A):c.1790C>A (p.Thr597Asn) rs149715258 0.00014
NM_001165963.4(SCN1A):c.3591A>G (p.Glu1197=) rs371596040 0.00014
NM_001165963.4(SCN1A):c.579C>T (p.Leu193=) rs116478064 0.00014
NM_001182.5(ALDH7A1):c.63T>C (p.Pro21=) rs368427726 0.00014
NM_001199397.3(NEK1):c.594A>G (p.Thr198=) rs373252814 0.00014
NM_001252024.2(TRPM1):c.924G>A (p.Ser308=) rs376610188 0.00014
NM_001267550.2(TTN):c.102561C>T (p.Tyr34187=) rs375625664 0.00014
NM_001267550.2(TTN):c.103053C>T (p.Thr34351=) rs3731753 0.00014
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=) rs371535721 0.00014
NM_001267550.2(TTN):c.104605G>A (p.Glu34869Lys) rs563430855 0.00014
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala) rs376634193 0.00014
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile) rs397517478 0.00014
NM_001267550.2(TTN):c.14759C>T (p.Thr4920Met) rs371455094 0.00014
NM_001267550.2(TTN):c.20108G>A (p.Arg6703Gln) rs546821182 0.00014
NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg) rs553548392 0.00014
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg) rs367826445 0.00014
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile) rs141961878 0.00014
NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys) rs200902055 0.00014
NM_001267550.2(TTN):c.32971G>A (p.Glu10991Lys) rs201081803 0.00014
NM_001267550.2(TTN):c.33838C>T (p.Pro11280Ser) rs374449452 0.00014
NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu) rs374497665 0.00014
NM_001267550.2(TTN):c.39813A>G (p.Pro13271=) rs373429851 0.00014
NM_001267550.2(TTN):c.43260C>T (p.Phe14420=) rs372382546 0.00014
NM_001267550.2(TTN):c.50059A>G (p.Ile16687Val) rs727504194 0.00014
NM_001267550.2(TTN):c.52331G>A (p.Arg17444His) rs376080116 0.00014
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu) rs200968679 0.00014
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe) rs201541213 0.00014
NM_001267550.2(TTN):c.58190C>T (p.Thr19397Met) rs373527448 0.00014
NM_001267550.2(TTN):c.59282A>G (p.Asn19761Ser) rs563969986 0.00014
NM_001267550.2(TTN):c.66590G>A (p.Arg22197Gln) rs374656017 0.00014
NM_001267550.2(TTN):c.72182T>C (p.Met24061Thr) rs200471370 0.00014
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn) rs192468365 0.00014
NM_001267550.2(TTN):c.80115G>T (p.Glu26705Asp) rs558830502 0.00014
NM_001267550.2(TTN):c.80666A>G (p.Tyr26889Cys) rs571328201 0.00014
NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly) rs145373396 0.00014
NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr) rs148067743 0.00014
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln) rs200843338 0.00014
NM_001267550.2(TTN):c.85745T>A (p.Ile28582Lys) rs201688358 0.00014
NM_001267550.2(TTN):c.86025G>A (p.Pro28675=) rs369528150 0.00014
NM_001267550.2(TTN):c.87111G>A (p.Glu29037=) rs374902148 0.00014
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) rs72648235 0.00014
NM_001267550.2(TTN):c.89946C>T (p.Val29982=) rs373311459 0.00014
NM_001267550.2(TTN):c.91119A>G (p.Lys30373=) rs192167542 0.00014
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln) rs374063064 0.00014
NM_001267550.2(TTN):c.96904+4T>C rs373514079 0.00014
NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu) rs146199720 0.00014
NM_001267550.2(TTN):c.97642C>T (p.Arg32548Cys) rs377599569 0.00014
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=) rs371656672 0.00014
NM_001277115.2(DNAH11):c.9499A>C (p.Thr3167Pro) rs202224167 0.00014
NM_001297.5(CNGB1):c.2869G>A (p.Val957Ile) rs189261750 0.00014
NM_001353214.3(DYM):c.534A>G (p.Thr178=) rs775696326 0.00014
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_001367624.2(ZNF469):c.4422G>A (p.Ala1474=) rs368877287 0.00014
NM_001374385.1(ATP8B1):c.2337C>T (p.Tyr779=) rs764863689 0.00014
NM_001374385.1(ATP8B1):c.2928G>A (p.Ala976=) rs201803908 0.00014
NM_001378615.1(CC2D2A):c.1731G>A (p.Ser577=) rs376746356 0.00014
NM_001378615.1(CC2D2A):c.1830G>A (p.Pro610=) rs185072004 0.00014
NM_001453.3(FOXC1):c.78C>T (p.Tyr26=) rs545478008 0.00014
NM_001793.6(CDH3):c.2042G>A (p.Arg681Gln) rs758614807 0.00014
NM_001848.3(COL6A1):c.1665C>T (p.Pro555=) rs369802454 0.00014
NM_001848.3(COL6A1):c.348C>T (p.Ser116=) rs189444981 0.00014
NM_001849.4(COL6A2):c.567C>T (p.Ala189=) rs563505047 0.00014
NM_001854.4(COL11A1):c.1522A>G (p.Thr508Ala) rs55851925 0.00014
NM_002241.5(KCNJ10):c.688C>T (p.Arg230Trp) rs149615470 0.00014
NM_002472.3(MYH8):c.5293-1G>A rs144785726 0.00014
NM_002473.6(MYH9):c.4024C>T (p.Arg1342Trp) rs147901502 0.00014
NM_002474.3(MYH11):c.1017C>T (p.Ser339=) rs112161189 0.00014
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val) rs112948385 0.00014
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu) rs192236678 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_002979.5(SCP2):c.1074C>T (p.Gly358=) rs74638331 0.00014
NM_002979.5(SCP2):c.15G>T (p.Pro5=) rs147697594 0.00014
NM_003098.3(SNTA1):c.287G>C (p.Gly96Ala) rs766925398 0.00014
NM_003482.4(KMT2D):c.2847G>A (p.Pro949=) rs369436545 0.00014
NM_003482.4(KMT2D):c.3813A>T (p.Leu1271=) rs201794205 0.00014
NM_003482.4(KMT2D):c.5319+3G>A rs372897046 0.00014
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys) rs3737311 0.00014
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188 0.00014
NM_004006.3(DMD):c.1603-4C>A rs377223643 0.00014
NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe) rs760733415 0.00014
NM_004006.3(DMD):c.4605G>A (p.Thr1535=) rs374871728 0.00014
NM_004006.3(DMD):c.4876G>A (p.Val1626Met) rs776998846 0.00014
NM_004006.3(DMD):c.5723A>T (p.Asp1908Val) rs145266970 0.00014
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr) rs185706283 0.00014
NM_004006.3(DMD):c.7578G>A (p.Gln2526=) rs142236825 0.00014
NM_004098.4(EMX2):c.653G>A (p.Gly218Asp) rs200981903 0.00014
NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=) rs374969185 0.00014
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln) rs138907450 0.00014
NM_004565.3(PEX14):c.303C>T (p.Pro101=) rs199552789 0.00014
NM_004595.5(SMS):c.661-5C>T rs371972467 0.00014
NM_004817.4(TJP2):c.1818G>A (p.Ser606=) rs527789195 0.00014
NM_004817.4(TJP2):c.375C>T (p.Ala125=) rs181450555 0.00014
NM_005045.4(RELN):c.3411C>T (p.Gly1137=) rs137974322 0.00014
NM_005529.7(HSPG2):c.7026C>T (p.Pro2342=) rs182418174 0.00014
NM_005857.5(ZMPSTE24):c.933A>G (p.Glu311=) rs150740479 0.00014
NM_005957.5(MTHFR):c.1162C>T (p.Arg388Cys) rs200138092 0.00014
NM_006005.3(WFS1):c.2054G>A (p.Arg685His) rs142668478 0.00014
NM_006005.3(WFS1):c.2398A>G (p.Lys800Glu) rs55674815 0.00014
NM_006031.6(PCNT):c.8947C>T (p.Leu2983Phe) rs372356069 0.00014
NM_006662.3(SRCAP):c.4120C>T (p.Leu1374Phe) rs777744269 0.00014
NM_012193.4(FZD4):c.205C>T (p.His69Tyr) rs80358282 0.00014
NM_012254.3(SLC27A5):c.1827G>A (p.Gly609=) rs143397900 0.00014
NM_014141.6(CNTNAP2):c.3741A>C (p.Pro1247=) rs141772824 0.00014
NM_014251.3(SLC25A13):c.1275G>A (p.Ser425=) rs376416252 0.00014
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln) rs181341030 0.00014
NM_014384.3(ACAD8):c.384G>A (p.Met128Ile) rs374317179 0.00014
NM_014639.4(SKIC3):c.3603A>G (p.Arg1201=) rs376083373 0.00014
NM_014795.4(ZEB2):c.1848T>G (p.Pro616=) rs144835963 0.00014
NM_015102.5(NPHP4):c.3309C>T (p.His1103=) rs200320780 0.00014
NM_015340.4(LARS2):c.1383T>C (p.Ile461=) rs35347543 0.00014
NM_016219.5(MAN1B1):c.1841G>A (p.Arg614His) rs374247020 0.00014
NM_016356.5(DCDC2):c.349-9C>G rs765613994 0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_018136.5(ASPM):c.5584A>G (p.Lys1862Glu) rs527602809 0.00014
NM_018136.5(ASPM):c.7569A>G (p.Gln2523=) rs148494695 0.00014
NM_018941.4(CLN8):c.207G>A (p.Thr69=) rs368365607 0.00014
NM_019066.5(MAGEL2):c.2660G>A (p.Arg887Gln) rs199772480 0.00014
NM_020779.4(WDR35):c.3252G>A (p.Glu1084=) rs182360785 0.00014
NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met) rs539139475 0.00014
NM_020975.6(RET):c.1699G>A (p.Asp567Asn) rs147219360 0.00014
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln) rs376560330 0.00014
NM_022124.6(CDH23):c.2940G>A (p.Thr980=) rs373631099 0.00014
NM_024685.4(BBS10):c.372T>A (p.Ser124=) rs143366878 0.00014
NM_024753.5(TTC21B):c.549T>C (p.Gly183=) rs141664029 0.00014
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu) rs146711478 0.00014
NM_025193.4(HSD3B7):c.714C>T (p.His238=) rs147510106 0.00014
NM_030665.4(RAI1):c.1837G>A (p.Gly613Arg) rs200955853 0.00014
NM_030665.4(RAI1):c.2004C>T (p.Pro668=) rs398124414 0.00014
NM_032119.4(ADGRV1):c.2456G>A (p.Ser819Asn) rs182395524 0.00014
NM_033028.5(BBS4):c.1548_1549del (p.Ile516fs) rs398124432 0.00014
NM_033380.3(COL4A5):c.858T>C (p.Gly286=) rs183837448 0.00014
NM_052845.4(MMAB):c.444G>A (p.Gly148=) rs117269384 0.00014
NM_057176.3(BSND):c.102C>T (p.Tyr34=) rs141403253 0.00014
NM_080680.3(COL11A2):c.4959C>T (p.Tyr1653=) rs140017436 0.00014
NM_133497.4(KCNV2):c.441C>A (p.Asp147Glu) rs146659188 0.00014
NM_138694.4(PKHD1):c.2637G>A (p.Thr879=) rs147915980 0.00014
NM_138694.4(PKHD1):c.977-7C>G rs1054774956 0.00014
NM_144670.6(A2ML1):c.1856G>C (p.Trp619Ser) rs369180298 0.00014
NM_153240.5(NPHP3):c.3504A>G (p.Ala1168=) rs371505908 0.00014
NM_153638.4(PANK2):c.12C>T (p.Leu4=) rs774784800 0.00014
NM_170699.3(GPBAR1):c.334A>G (p.Met112Val) rs202032682 0.00014
NM_175875.5(SIX5):c.714C>G (p.Thr238=) rs758444909 0.00014
NM_182914.3(SYNE2):c.8911C>G (p.Gln2971Glu) rs200909650 0.00014
NM_182961.4(SYNE1):c.12615G>A (p.Ser4205=) rs138650597 0.00014
NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=) rs370053768 0.00014
NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn) rs142747430 0.00014
NM_198859.4(PRICKLE2):c.2103G>T (p.Leu701=) rs200220646 0.00014
NM_201384.3(PLEC):c.11476C>T (p.Arg3826Cys) rs781836500 0.00014
NM_201384.3(PLEC):c.12671C>G (p.Ala4224Gly) rs368212208 0.00014
NM_201384.3(PLEC):c.1283C>T (p.Ala428Val) rs200893203 0.00014
NM_201384.3(PLEC):c.1305G>A (p.Ala435=) rs369877618 0.00014
NM_201384.3(PLEC):c.13242C>T (p.Arg4414=) rs200589588 0.00014
NM_201384.3(PLEC):c.2477A>G (p.Asp826Gly) rs369344419 0.00014
NM_201384.3(PLEC):c.4587C>T (p.Arg1529=) rs369723574 0.00014
NM_201384.3(PLEC):c.6399G>A (p.Ala2133=) rs375489890 0.00014
NM_201384.3(PLEC):c.6786G>A (p.Thr2262=) rs373922545 0.00014
NM_201384.3(PLEC):c.772C>T (p.Leu258=) rs372233686 0.00014
NM_201525.4(ADGRG1):c.1188C>T (p.Asp396=) rs368883473 0.00014
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=) rs397517991 0.00014
NM_207361.6(FREM2):c.9337A>G (p.Thr3113Ala) rs202106776 0.00014
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys) rs142073798 0.00014
NM_000020.3(ACVRL1):c.465C>T (p.Ser155=) rs143735377 0.00013
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp) rs200137051 0.00013
NM_000023.4(SGCA):c.408C>T (p.Ala136=) rs143551687 0.00013
NM_000023.4(SGCA):c.819G>T (p.Pro273=) rs35972733 0.00013
NM_000026.4(ADSL):c.735A>T (p.Arg245=) rs143977255 0.00013
NM_000070.3(CAPN3):c.2071G>A (p.Gly691Arg) rs140425651 0.00013
NM_000071.3(CBS):c.1072G>A (p.Val358Met) rs148589243 0.00013
NM_000088.4(COL1A1):c.627C>T (p.Gly209=) rs201136122 0.00013
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=) rs142352627 0.00013
NM_000141.5(FGFR2):c.568C>T (p.Arg190Trp) rs147987917 0.00013
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000214.3(JAG1):c.526G>A (p.Val176Ile) rs199674138 0.00013
NM_000218.3(KCNQ1):c.759C>T (p.Ser253=) rs752457145 0.00013
NM_000255.4(MMUT):c.385+14G>A rs199992904 0.00013
NM_000271.5(NPC1):c.3558C>T (p.Arg1186=) rs141659629 0.00013
NM_000295.5(SERPINA1):c.918-4A>G rs367822021 0.00013
NM_000368.5(TSC1):c.3024T>G (p.Asn1008Lys) rs142954164 0.00013
NM_000388.4(CASR):c.1287C>T (p.His429=) rs746515147 0.00013
NM_000392.5(ABCC2):c.2714G>A (p.Arg905Lys) rs201874841 0.00013
NM_000435.3(NOTCH3):c.3569G>A (p.Arg1190His) rs372241697 0.00013
NM_000440.3(PDE6A):c.594G>A (p.Val198=) rs398123394 0.00013
NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=) rs541538556 0.00013
NM_000463.3(UGT1A1):c.1026A>T (p.Pro342=) rs747062491 0.00013
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His) rs768360593 0.00013
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala) rs45517284 0.00013
NM_000709.4(BCKDHA):c.663C>T (p.Tyr221=) rs151227241 0.00013
NM_000875.5(IGF1R):c.84G>A (p.Thr28=) rs372748482 0.00013
NM_001031679.3(MSRB3):c.-67G>C rs368104588 0.00013
NM_001035.3(RYR2):c.14703G>C (p.Val4901=) rs201371633 0.00013
NM_001039958.2(MESP2):c.306C>A (p.His102Gln) rs77473319 0.00013
NM_001083961.2(WDR62):c.2766C>T (p.Arg922=) rs373906889 0.00013
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs) rs886041302 0.00013
NM_001105206.3(LAMA4):c.1673C>T (p.Ala558Val) rs137893207 0.00013
NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile) rs199911951 0.00013
NM_001110792.2(MECP2):c.897C>T (p.Ala299=) rs139378224 0.00013
NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser) rs143815396 0.00013
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg) rs121907899 0.00013
NM_001134831.2(AHI1):c.2808A>G (p.Thr936=) rs373772212 0.00013
NM_001145809.2(MYH14):c.4740C>T (p.Asp1580=) rs751909208 0.00013
NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser) rs199710125 0.00013
NM_001182.5(ALDH7A1):c.552C>T (p.Pro184=) rs369859575 0.00013
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser) rs397517783 0.00013
NM_001267550.2(TTN):c.10115-4G>A rs367648529 0.00013
NM_001267550.2(TTN):c.16091G>A (p.Arg5364His) rs200941841 0.00013
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu) rs199778910 0.00013
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=) rs72648997 0.00013
NM_001267550.2(TTN):c.28320C>T (p.Gly9440=) rs375083775 0.00013
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys) rs72650035 0.00013
NM_001267550.2(TTN):c.35313G>A (p.Pro11771=) rs369739111 0.00013
NM_001267550.2(TTN):c.43417G>C (p.Asp14473His) rs397517573 0.00013
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) rs200944827 0.00013
NM_001267550.2(TTN):c.50452G>A (p.Glu16818Lys) rs397517600 0.00013
NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser) rs199837769 0.00013
NM_001267550.2(TTN):c.6359G>A (p.Arg2120Gln) rs141142920 0.00013
NM_001267550.2(TTN):c.68640G>A (p.Lys22880=) rs370292933 0.00013
NM_001267550.2(TTN):c.72906T>A (p.Ala24302=) rs773886758 0.00013
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His) rs375693396 0.00013
NM_001267550.2(TTN):c.7711G>A (p.Glu2571Lys) rs149660690 0.00013
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser) rs199929362 0.00013
NM_001267550.2(TTN):c.82981C>T (p.Pro27661Ser) rs201422612 0.00013
NM_001267550.2(TTN):c.8434G>C (p.Val2812Leu) rs146636599 0.00013
NM_001267550.2(TTN):c.86355T>C (p.Asn28785=) rs745857020 0.00013
NM_001267550.2(TTN):c.86658G>A (p.Glu28886=) rs760858743 0.00013
NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile) rs201687390 0.00013
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser) rs72648240 0.00013
NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg) rs201019681 0.00013
NM_001267550.2(TTN):c.95094C>T (p.Ala31698=) rs373509153 0.00013
NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn) rs80293130 0.00013
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser) rs139364109 0.00013
NM_001371596.2(MFSD8):c.206C>T (p.Pro69Leu) rs147750747 0.00013
NM_001376256.1(CRYM):c.8G>T (p.Arg3Leu) rs149797560 0.00013
NM_001379081.2(FREM1):c.3471+9C>T rs377668876 0.00013
NM_001384140.1(PCDH15):c.1548G>A (p.Val516=) rs138177808 0.00013
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile) rs146199636 0.00013
NM_001845.6(COL4A1):c.2570C>T (p.Ser857Leu) rs145861489 0.00013
NM_001848.3(COL6A1):c.2820G>A (p.Leu940=) rs111451684 0.00013
NM_001849.4(COL6A2):c.1489C>A (p.Pro497Thr) rs75581470 0.00013
NM_001849.4(COL6A2):c.1836C>T (p.Gly612=) rs141257132 0.00013
NM_001849.4(COL6A2):c.2244C>T (p.Cys748=) rs201426778 0.00013
NM_001849.4(COL6A2):c.2580G>A (p.Ala860=) rs146420786 0.00013
NM_001927.4(DES):c.1257C>T (p.Pro419=) rs143154982 0.00013
NM_001966.4(EHHADH):c.1608G>A (p.Gly536=) rs141355337 0.00013
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala) rs374922166 0.00013
NM_002437.5(MPV17):c.61C>G (p.Leu21Val) rs200504529 0.00013
NM_002473.6(MYH9):c.5185G>T (p.Ala1729Ser) rs140662138 0.00013
NM_002880.4(RAF1):c.94A>G (p.Ile32Val) rs372738063 0.00013
NM_002968.3(SALL1):c.235G>C (p.Ala79Pro) rs536108231 0.00013
NM_003106.4(SOX2):c.54G>C (p.Ser18=) rs757913217 0.00013
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058 0.00013
NM_004006.3(DMD):c.357+5G>A rs778431187 0.00013
NM_004006.3(DMD):c.7085C>A (p.Pro2362Gln) rs141151675 0.00013
NM_004006.3(DMD):c.7658G>A (p.Arg2553Gln) rs764127932 0.00013
NM_004006.3(DMD):c.7988C>G (p.Thr2663Arg) rs144103124 0.00013
NM_004006.3(DMD):c.821A>G (p.Tyr274Cys) rs745868830 0.00013
NM_004006.3(DMD):c.8255A>G (p.Tyr2752Cys) rs373832446 0.00013
NM_004006.3(DMD):c.8706G>A (p.Arg2902=) rs899851642 0.00013
NM_004369.4(COL6A3):c.5501-4C>G rs143237699 0.00013
NM_004369.4(COL6A3):c.6064-6C>T rs202091342 0.00013
NM_004380.3(CREBBP):c.4280+8T>C rs376814421 0.00013
NM_004380.3(CREBBP):c.5747T>C (p.Met1916Thr) rs559294915 0.00013
NM_004565.3(PEX14):c.1101C>T (p.Pro367=) rs146053705 0.00013
NM_004817.4(TJP2):c.3063C>T (p.Ala1021=) rs367977493 0.00013
NM_005045.4(RELN):c.8634A>G (p.Ser2878=) rs377429197 0.00013
NM_005476.7(GNE):c.804G>A (p.Lys268=) rs141814943 0.00013
NM_005477.3(HCN4):c.2025C>T (p.Ala675=) rs149033101 0.00013
NM_005633.4(SOS1):c.1953A>G (p.Pro651=) rs141507912 0.00013
NM_005633.4(SOS1):c.3600C>G (p.Asp1200Glu) rs141594736 0.00013
NM_006269.2(RP1):c.4299A>G (p.Ala1433=) rs148918111 0.00013
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter) rs121918226 0.00013
NM_006790.3(MYOT):c.342C>T (p.Ser114=) rs34593399 0.00013
NM_007078.3(LDB3):c.342C>T (p.Asn114=) rs151166414 0.00013
NM_012254.3(SLC27A5):c.553G>A (p.Val185Ile) rs757127359 0.00013
NM_012463.4(ATP6V0A2):c.118-7_118-3del rs777322469 0.00013
NM_013382.7(POMT2):c.1920C>T (p.Gly640=) rs150755807 0.00013
NM_014141.6(CNTNAP2):c.1777+7G>A rs770951811 0.00013
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val) rs186436335 0.00013
NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=) rs374354239 0.00013
NM_015192.4(PLCB1):c.2088C>T (p.Tyr696=) rs189186909 0.00013
NM_015346.4(ZFYVE26):c.2742C>T (p.Ser914=) rs140577908 0.00013
NM_015346.4(ZFYVE26):c.879G>A (p.Ser293=) rs199794711 0.00013
NM_017777.4(MKS1):c.1128G>A (p.Thr376=) rs369141016 0.00013
NM_017780.4(CHD7):c.240G>A (p.Met80Ile) rs199675125 0.00013
NM_017780.4(CHD7):c.277A>G (p.Thr93Ala) rs398124317 0.00013
NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His) rs377535841 0.00013
NM_018006.5(TRMU):c.1158G>A (p.Leu386=) rs79874854 0.00013
NM_019098.5(CNGB3):c.1833C>T (p.His611=) rs368787128 0.00013
NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys) rs75602337 0.00013
NM_022124.6(CDH23):c.1803C>G (p.Val601=) rs201024982 0.00013
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile) rs368828743 0.00013
NM_024408.4(NOTCH2):c.4929G>A (p.Thr1643=) rs587697719 0.00013
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter) rs201599657 0.00013
NM_024757.5(EHMT1):c.2039C>T (p.Ser680Leu) rs147523309 0.00013
NM_024757.5(EHMT1):c.3028G>A (p.Val1010Met) rs200237137 0.00013
NM_025074.7(FRAS1):c.10128C>T (p.His3376=) rs369331788 0.00013
NM_030665.4(RAI1):c.5254G>A (p.Gly1752Arg) rs755572135 0.00013
NM_031220.4(PITPNM3):c.2700C>T (p.Arg900=) rs139901820 0.00013
NM_032119.4(ADGRV1):c.5264C>T (p.Ala1755Val) rs185971062 0.00013
NM_032119.4(ADGRV1):c.6229G>A (p.Glu2077Lys) rs200372116 0.00013
NM_033056.4(PCDH15):c.4677G>A (p.Lys1559=) rs375077719 0.00013
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu) rs139668636 0.00013
NM_053025.4(MYLK):c.2629G>A (p.Val877Met) rs34542174 0.00013
NM_057176.3(BSND):c.16A>G (p.Thr6Ala) rs201342416 0.00013
NM_138927.4(SON):c.5200G>A (p.Val1734Met) rs146053621 0.00013
NM_170707.4(LMNA):c.1051A>C (p.Arg351=) rs771623461 0.00013
NM_172107.4(KCNQ2):c.1814C>G (p.Thr605Ser) rs751334184 0.00013
NM_182961.4(SYNE1):c.20070G>C (p.Thr6690=) rs141263831 0.00013
NM_182961.4(SYNE1):c.21612C>T (p.Pro7204=) rs141170182 0.00013
NM_182961.4(SYNE1):c.21876A>G (p.Gly7292=) rs375826346 0.00013
NM_182961.4(SYNE1):c.226-2dup rs774388631 0.00013
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met) rs190867604 0.00013
NM_201384.3(PLEC):c.11207C>T (p.Pro3736Leu) rs77146441 0.00013
NM_201384.3(PLEC):c.6096G>C (p.Ser2032=) rs564245730 0.00013
NM_201384.3(PLEC):c.7082C>T (p.Thr2361Met) rs369522291 0.00013
NM_201384.3(PLEC):c.7193G>A (p.Arg2398His) rs368343687 0.00013
NM_201384.3(PLEC):c.7194C>T (p.Arg2398=) rs541134948 0.00013
NM_201384.3(PLEC):c.897G>A (p.Thr299=) rs377035835 0.00013
NM_201384.3(PLEC):c.9294C>T (p.Ala3098=) rs376753842 0.00013
NM_203475.3(PORCN):c.288C>T (p.Gly96=) rs200263603 0.00013
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg) rs111033514 0.00013
NM_206933.4(USH2A):c.8016G>A (p.Leu2672=) rs368327746 0.00013
NM_207361.6(FREM2):c.6743-9C>T rs749834830 0.00013
NM_213599.3(ANO5):c.2256G>A (p.Thr752=) rs144048656 0.00013
NM_000067.3(CA2):c.35-7C>A rs371766356 0.00012
NM_000070.3(CAPN3):c.552G>A (p.Thr184=) rs147808529 0.00012
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919 0.00012
NM_000137.4(FAH):c.715A>T (p.Ile239Phe) rs144228661 0.00012
NM_000152.5(GAA):c.1860C>T (p.Ser620=) rs370369972 0.00012
NM_000152.5(GAA):c.663C>T (p.Ile221=) rs142878958 0.00012
NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln) rs398123230 0.00012
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys) rs200761715 0.00012
NM_000260.4(MYO7A):c.4441+7C>T rs372493678 0.00012
NM_000335.5(SCN5A):c.4908C>T (p.Ile1636=) rs200569112 0.00012
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala) rs121909298 0.00012
NM_000392.5(ABCC2):c.3081C>T (p.Tyr1027=) rs201212360 0.00012
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664 0.00012
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984 0.00012
NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys) rs62642481 0.00012
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030 0.00012
NM_001017995.3(SH3PXD2B):c.1542C>T (p.Pro514=) rs780292269 0.00012
NM_001077365.2(POMT1):c.568C>T (p.Leu190=) rs752931210 0.00012
NM_001080476.3(GRXCR1):c.753C>T (p.Ser251=) rs374667597 0.00012
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=) rs201236364 0.00012
NM_001127649.3(PEX26):c.668-5G>T rs767742108 0.00012
NM_001128178.3(NPHP1):c.1787C>T (p.Thr596Met) rs201460699 0.00012
NM_001136193.2(FASTKD2):c.911T>C (p.Ile304Thr) rs144499152 0.00012
NM_001145809.2(MYH14):c.4445G>A (p.Arg1482Gln) rs746594902 0.00012
NM_001161352.2(KCNMA1):c.711C>T (p.Asn237=) rs139309224 0.00012
NM_001267550.2(TTN):c.12404A>G (p.Asn4135Ser) rs565638291 0.00012
NM_001267550.2(TTN):c.12653T>C (p.Ile4218Thr) rs374631591 0.00012
NM_001267550.2(TTN):c.14746A>G (p.Lys4916Glu) rs376597173 0.00012
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser) rs560537668 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.19881G>A (p.Ser6627=) rs371495674 0.00012
NM_001267550.2(TTN):c.204C>T (p.Pro68=) rs201089861 0.00012
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser) rs375209098 0.00012
NM_001267550.2(TTN):c.30811A>G (p.Ile10271Val) rs182720979 0.00012
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser) rs201120871 0.00012
NM_001267550.2(TTN):c.39045G>C (p.Val13015=) rs192464868 0.00012
NM_001267550.2(TTN):c.48394C>T (p.Arg16132Cys) rs2303830 0.00012
NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met) rs367700246 0.00012
NM_001267550.2(TTN):c.54321A>G (p.Ala18107=) rs368021072 0.00012
NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala) rs727503600 0.00012
NM_001267550.2(TTN):c.55655G>A (p.Arg18552His) rs201774108 0.00012
NM_001267550.2(TTN):c.56850G>A (p.Val18950=) rs368068200 0.00012
NM_001267550.2(TTN):c.57242T>C (p.Ile19081Thr) rs78509062 0.00012
NM_001267550.2(TTN):c.59236G>A (p.Gly19746Ser) rs372802352 0.00012
NM_001267550.2(TTN):c.63775G>A (p.Val21259Ile) rs371286595 0.00012
NM_001267550.2(TTN):c.66917T>C (p.Ile22306Thr) rs397517667 0.00012
NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn) rs375676529 0.00012
NM_001267550.2(TTN):c.71373T>G (p.Leu23791=) rs56245285 0.00012
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=) rs372543652 0.00012
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser) rs368443217 0.00012
NM_001267550.2(TTN):c.85275T>C (p.Thr28425=) rs376484117 0.00012
NM_001267550.2(TTN):c.90227C>T (p.Thr30076Met) rs201998913 0.00012
NM_001267550.2(TTN):c.90691C>T (p.Pro30231Ser) rs373722546 0.00012
NM_001267550.2(TTN):c.91399C>T (p.Arg30467Cys) rs775591945 0.00012
NM_001267550.2(TTN):c.92402C>T (p.Ala30801Val) rs372570504 0.00012
NM_001291867.2(NHS):c.1143C>T (p.Cys381=) rs727504042 0.00012
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564 0.00012
NM_001351132.2(PEX5):c.753+10T>C rs373242881 0.00012
NM_001360.3(DHCR7):c.1410G>A (p.Leu470=) rs375993195 0.00012
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) rs745404679 0.00012
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=) rs141133453 0.00012
NM_001384140.1(PCDH15):c.521A>G (p.Asn174Ser) rs145037203 0.00012
NM_001429.4(EP300):c.2787A>G (p.Ala929=) rs143690368 0.00012
NM_001853.4(COL9A3):c.1932C>T (p.Pro644=) rs550889206 0.00012
NM_002547.3(OPHN1):c.1184A>G (p.Asn395Ser) rs150084635 0.00012
NM_002693.3(POLG):c.1389G>A (p.Leu463=) rs150828914 0.00012
NM_002979.5(SCP2):c.1469-10T>C rs761545816 0.00012
NM_003049.4(SLC10A1):c.877C>G (p.Gln293Glu) rs189313778 0.00012
NM_003482.4(KMT2D):c.6409A>G (p.Thr2137Ala) rs543241831 0.00012
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val) rs200912109 0.00012
NM_003742.4(ABCB11):c.2757C>A (p.Thr919=) rs374465656 0.00012
NM_003742.4(ABCB11):c.48G>A (p.Glu16=) rs768192083 0.00012
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637 0.00012
NM_004006.3(DMD):c.7820A>T (p.Lys2607Met) rs72466581 0.00012
NM_004006.3(DMD):c.9033G>A (p.Pro3011=) rs774722438 0.00012
NM_004006.3(DMD):c.9479G>A (p.Arg3160His) rs771392678 0.00012
NM_004260.4(RECQL4):c.2464-1G>C rs398124117 0.00012
NM_004369.4(COL6A3):c.3063A>G (p.Pro1021=) rs200098134 0.00012
NM_004380.3(CREBBP):c.2526G>A (p.Gln842=) rs141775567 0.00012
NM_004393.6(DAG1):c.286-10del rs747305463 0.00012
NM_004530.6(MMP2):c.380+10C>T rs545069128 0.00012
NM_004560.4(ROR2):c.2286G>A (p.Ser762=) rs143759440 0.00012
NM_004817.4(TJP2):c.1656A>G (p.Gly552=) rs150723764 0.00012
NM_005249.5(FOXG1):c.*4C>T rs774917687 0.00012
NM_005477.3(HCN4):c.621C>G (p.Arg207=) rs727503958 0.00012
NM_006005.3(WFS1):c.728C>T (p.Ala243Val) rs147147660 0.00012
NM_006015.6(ARID1A):c.1175C>A (p.Pro392His) rs199906671 0.00012
NM_006302.3(MOGS):c.249C>G (p.Ala83=) rs764778419 0.00012
NM_006306.4(SMC1A):c.861G>A (p.Lys287=) rs782543093 0.00012
NM_006383.4(CIB2):c.192G>A (p.Glu64=) rs145415848 0.00012
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly) rs144731446 0.00012
NM_006790.3(MYOT):c.571G>C (p.Gly191Arg) rs199789331 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_014714.4(IFT140):c.2551G>A (p.Val851Met) rs754753583 0.00012
NM_014795.4(ZEB2):c.2084G>A (p.Arg695Gln) rs147693839 0.00012
NM_015102.5(NPHP4):c.279+6C>T rs199856317 0.00012
NM_015295.3(SMCHD1):c.2025G>A (p.Glu675=) rs766575963 0.00012
NM_016219.5(MAN1B1):c.1789C>T (p.Arg597Trp) rs374963946 0.00012
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=) rs146933218 0.00012
NM_017777.4(MKS1):c.515+8C>T rs376823839 0.00012
NM_017780.4(CHD7):c.5310T>C (p.Asp1770=) rs377723386 0.00012
NM_017780.4(CHD7):c.8193C>T (p.Ala2731=) rs534427466 0.00012
NM_018389.5(SLC35C1):c.663G>A (p.Pro221=) rs111773874 0.00012
NM_018699.4(PRDM5):c.1605C>T (p.His535=) rs150476884 0.00012
NM_020754.4(ARHGAP31):c.499G>A (p.Ala167Thr) rs139733647 0.00012
NM_020822.3(KCNT1):c.1899G>A (p.Ser633=) rs371135108 0.00012
NM_022437.3(ABCG8):c.578C>T (p.Ala193Val) rs376362072 0.00012
NM_024301.5(FKRP):c.954C>T (p.Cys318=) rs755968761 0.00012
NM_024408.4(NOTCH2):c.786T>C (p.Asp262=) rs374224226 0.00012
NM_025074.7(FRAS1):c.2862G>A (p.Thr954=) rs144065807 0.00012
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn) rs727503854 0.00012
NM_032119.4(ADGRV1):c.18879C>T (p.Ile6293=) rs372350188 0.00012
NM_032119.4(ADGRV1):c.8401G>A (p.Gly2801Arg) rs760510612 0.00012
NM_080680.3(COL11A2):c.4291C>T (p.Arg1431Trp) rs369126897 0.00012
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571 0.00012
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=) rs12627793 0.00012
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=) rs376709130 0.00012
NM_153603.4(COG7):c.2013G>A (p.Leu671=) rs370447404 0.00012
NM_182961.4(SYNE1):c.20142C>T (p.Ser6714=) rs201908045 0.00012
NM_182961.4(SYNE1):c.23757G>A (p.Ser7919=) rs377113267 0.00012
NM_201384.3(PLEC):c.10130G>A (p.Arg3377Gln) rs375724891 0.00012
NM_201384.3(PLEC):c.13470C>T (p.Arg4490=) rs531535217 0.00012
NM_201384.3(PLEC):c.3287G>A (p.Arg1096His) rs375617818 0.00012
NM_201384.3(PLEC):c.3368C>T (p.Pro1123Leu) rs376494828 0.00012
NM_201384.3(PLEC):c.5761C>T (p.Arg1921Trp) rs201278290 0.00012
NM_201525.4(ADGRG1):c.487A>C (p.Ser163Arg) rs373741981 0.00012
NM_207361.6(FREM2):c.1737C>T (p.Ile579=) rs144811771 0.00012
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys) rs369664123 0.00011
NM_000051.4(ATM):c.2346A>G (p.Leu782=) rs730881285 0.00011
NM_000057.4(BLM):c.1086C>T (p.Asp362=) rs375632163 0.00011
NM_000070.3(CAPN3):c.1521C>T (p.Tyr507=) rs370231427 0.00011
NM_000079.4(CHRNA1):c.948C>A (p.Ile316=) rs141733086 0.00011
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075 0.00011
NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys) rs56005131 0.00011
NM_000137.4(FAH):c.870C>T (p.Asp290=) rs377480457 0.00011
NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr) rs372430349 0.00011
NM_000214.3(JAG1):c.1146C>T (p.Asn382=) rs200133928 0.00011
NM_000214.3(JAG1):c.2286C>T (p.Asn762=) rs144190443 0.00011
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr) rs150811951 0.00011
NM_000230.3(LEP):c.21C>T (p.Cys7=) rs201523305 0.00011
NM_000231.3(SGCG):c.102C>T (p.Arg34=) rs140810408 0.00011
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser) rs151129360 0.00011
NM_000257.4(MYH7):c.4974C>T (p.Asp1658=) rs374289523 0.00011
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576 0.00011
NM_000266.4(NDP):c.11A>T (p.His4Leu) rs149708528 0.00011
NM_000271.5(NPC1):c.1431G>A (p.Thr477=) rs375307057 0.00011
NM_000271.5(NPC1):c.3393C>T (p.Ile1131=) rs777356809 0.00011
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418 0.00011
NM_000295.5(SERPINA1):c.244G>A (p.Ala82Thr) rs113817720 0.00011
NM_000295.5(SERPINA1):c.718G>A (p.Val240Met) rs72552401 0.00011
NM_000337.6(SGCD):c.191T>C (p.Ile64Thr) rs376780156 0.00011
NM_000362.5(TIMP3):c.587G>A (p.Arg196Gln) rs142288050 0.00011
NM_000372.5(TYR):c.1161T>C (p.Leu387=) rs141967840 0.00011
NM_000388.4(CASR):c.854G>A (p.Arg285Gln) rs200039241 0.00011
NM_000391.4(TPP1):c.1653C>G (p.Pro551=) rs372564255 0.00011
NM_000392.5(ABCC2):c.763C>T (p.Arg255Trp) rs147494662 0.00011
NM_000414.4(HSD17B4):c.1317A>G (p.Val439=) rs771922933 0.00011
NM_000443.4(ABCB4):c.2047G>A (p.Val683Met) rs776616540 0.00011
NM_000455.5(STK11):c.825G>A (p.Pro275=) rs202011521 0.00011
NM_000458.4(HNF1B):c.420C>T (p.Val140=) rs370134885 0.00011
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val) rs397508556 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_000503.6(EYA1):c.325T>C (p.Tyr109His) rs141779040 0.00011
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674 0.00011
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) rs193922879 0.00011
NM_000540.3(RYR1):c.8073C>T (p.Tyr2691=) rs202160739 0.00011
NM_000543.5(SMPD1):c.349G>A (p.Val117Met) rs202206564 0.00011
NM_000543.5(SMPD1):c.729C>T (p.Ala243=) rs149476159 0.00011
NM_000744.7(CHRNA4):c.1715A>G (p.Gln572Arg) rs113794453 0.00011
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser) rs201963596 0.00011
NM_000891.3(KCNJ2):c.168T>C (p.Val56=) rs370111593 0.00011
NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser) rs141035459 0.00011
NM_001017995.3(SH3PXD2B):c.1398C>T (p.Pro466=) rs140209484 0.00011
NM_001035.3(RYR2):c.2630A>C (p.His877Pro) rs561321743 0.00011
NM_001040142.2(SCN2A):c.5121G>A (p.Leu1707=) rs377063535 0.00011
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) rs139899756 0.00011
NM_001077365.2(POMT1):c.2061G>A (p.Ala687=) rs200916353 0.00011
NM_001077365.2(POMT1):c.921G>T (p.Leu307=) rs371243573 0.00011
NM_001101426.4(CRPPA):c.123G>C (p.Gly41=) rs761842188 0.00011
NM_001101426.4(CRPPA):c.243A>G (p.Leu81=) rs763209907 0.00011
NM_001110556.2(FLNA):c.6993C>T (p.Asp2331=) rs201153928 0.00011
NM_001122955.4(BSCL2):c.588C>T (p.Cys196=) rs369806785 0.00011
NM_001123385.2(BCOR):c.4320T>C (p.Pro1440=) rs753786462 0.00011
NM_001126121.2(SLC25A19):c.565G>A (p.Ala189Thr) rs144393784 0.00011
NM_001127222.2(CACNA1A):c.1782-6C>T rs201350764 0.00011
NM_001127644.2(GABRA1):c.612C>T (p.Arg204=) rs374616425 0.00011
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_001128225.3(SLC39A13):c.888C>T (p.Phe296=) rs150556863 0.00011
NM_001130987.2(DYSF):c.2864+8G>A rs371686795 0.00011
NM_001161352.2(KCNMA1):c.24C>T (p.Gly8=) rs748427000 0.00011
NM_001165963.4(SCN1A):c.1680T>C (p.Arg560=) rs145662732 0.00011
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790 0.00011
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp) rs148442069 0.00011
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu) rs201905405 0.00011
NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=) rs587780850 0.00011
NM_001184880.2(PCDH19):c.2965A>C (p.Asn989His) rs201611496 0.00011
NM_001191061.2(SLC25A22):c.834C>T (p.His278=) rs187824231 0.00011
NM_001195248.2(APTX):c.762G>A (p.Pro254=) rs571475924 0.00011
NM_001199107.2(TBC1D24):c.1620C>T (p.Ser540=) rs781723084 0.00011
NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr) rs377171054 0.00011
NM_001267550.2(TTN):c.106121T>A (p.Phe35374Tyr) rs727504609 0.00011
NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg) rs200716018 0.00011
NM_001267550.2(TTN):c.1449C>T (p.Ala483=) rs141617218 0.00011
NM_001267550.2(TTN):c.16121G>A (p.Cys5374Tyr) rs375577529 0.00011
NM_001267550.2(TTN):c.16551G>A (p.Ser5517=) rs376037792 0.00011
NM_001267550.2(TTN):c.16716A>G (p.Pro5572=) rs367821526 0.00011
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly) rs370812788 0.00011
NM_001267550.2(TTN):c.19715-4A>G rs375009631 0.00011
NM_001267550.2(TTN):c.227G>C (p.Gly76Ala) rs138750421 0.00011
NM_001267550.2(TTN):c.25660A>G (p.Lys8554Glu) rs201945791 0.00011
NM_001267550.2(TTN):c.32954G>C (p.Arg10985Pro) rs181395238 0.00011
NM_001267550.2(TTN):c.35037G>A (p.Pro11679=) rs369095270 0.00011
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly) rs376273101 0.00011
NM_001267550.2(TTN):c.50858-3C>T rs587782987 0.00011
NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser) rs773035917 0.00011
NM_001267550.2(TTN):c.59248G>A (p.Gly19750Ser) rs200732032 0.00011
NM_001267550.2(TTN):c.62507G>A (p.Arg20836Gln) rs201693851 0.00011
NM_001267550.2(TTN):c.65746C>T (p.Arg21916Trp) rs200155485 0.00011
NM_001267550.2(TTN):c.66051G>A (p.Val22017=) rs587780981 0.00011
NM_001267550.2(TTN):c.66703G>A (p.Val22235Ile) rs751354601 0.00011
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys) rs374492812 0.00011
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=) rs72646889 0.00011
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile) rs377334665 0.00011
NM_001267550.2(TTN):c.7339G>A (p.Val2447Met) rs779064962 0.00011
NM_001267550.2(TTN):c.80553C>T (p.Phe26851=) rs189790119 0.00011
NM_001267550.2(TTN):c.80554C>T (p.Arg26852Cys) rs185887755 0.00011
NM_001267550.2(TTN):c.88496T>G (p.Leu29499Arg) rs72648234 0.00011
NM_001267550.2(TTN):c.88510G>A (p.Asp29504Asn) rs376679796 0.00011
NM_001267550.2(TTN):c.91434A>C (p.Glu30478Asp) rs373900294 0.00011
NM_001267550.2(TTN):c.93214C>T (p.Arg31072Cys) rs368932767 0.00011
NM_001267550.2(TTN):c.93255G>A (p.Pro31085=) rs372611171 0.00011
NM_001267550.2(TTN):c.94980A>G (p.Glu31660=) rs370769662 0.00011
NM_001267550.2(TTN):c.98556T>C (p.Gly32852=) rs373853269 0.00011
NM_001267550.2(TTN):c.98605C>T (p.Arg32869Cys) rs186244950 0.00011
NM_001267550.2(TTN):c.99946G>A (p.Ala33316Thr) rs374295768 0.00011
NM_001267550.2(TTN):c.99982G>A (p.Val33328Met) rs372302484 0.00011
NM_001287.6(CLCN7):c.1137C>T (p.Ile379=) rs749315456 0.00011
NM_001298.3(CNGA3):c.1034A>G (p.His345Arg) rs780411290 0.00011
NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=) rs373448935 0.00011
NM_001330078.2(NRXN1):c.3489C>T (p.Ala1163=) rs147580960 0.00011
NM_001347702.2(SYNE1):c.1464T>G (p.Pro488=) rs770649913 0.00011
NM_001351132.2(PEX5):c.258C>T (p.Asp86=) rs144351488 0.00011
NM_001371928.1(AHDC1):c.2438G>A (p.Arg813His) rs138299564 0.00011
NM_001378120.1(MBD5):c.2279A>G (p.His760Arg) rs763275881 0.00011
NM_001378615.1(CC2D2A):c.2163G>A (p.Pro721=) rs768337150 0.00011
NM_001378615.1(CC2D2A):c.332C>T (p.Ala111Val) rs137878385 0.00011
NM_001378615.1(CC2D2A):c.603C>T (p.Pro201=) rs556542553 0.00011
NM_001379081.2(FREM1):c.5155G>A (p.Val1719Met) rs201617511 0.00011
NM_001848.3(COL6A1):c.2418C>T (p.Thr806=) rs760768642 0.00011
NM_001848.3(COL6A1):c.726C>T (p.Asn242=) rs142102852 0.00011
NM_001849.4(COL6A2):c.1720G>C (p.Val574Leu) rs142021066 0.00011
NM_001849.4(COL6A2):c.2841C>T (p.Leu947=) rs532522222 0.00011
NM_001849.4(COL6A2):c.2922G>A (p.Leu974=) rs556385546 0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) rs121964999 0.00011
NM_001966.4(EHHADH):c.1563G>A (p.Val521=) rs138858065 0.00011
NM_001966.4(EHHADH):c.621C>G (p.Pro207=) rs139788883 0.00011
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00011
NM_002506.3(NGF):c.191C>T (p.Ala64Val) rs201087374 0.00011
NM_002693.3(POLG):c.1066C>T (p.Leu356=) rs371431444 0.00011
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys) rs11546842 0.00011
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_003482.4(KMT2D):c.15694A>G (p.Ile5232Val) rs199593058 0.00011
NM_003482.4(KMT2D):c.2547G>A (p.Ser849=) rs398123738 0.00011
NM_003482.4(KMT2D):c.9482T>C (p.Met3161Thr) rs199831827 0.00011
NM_003611.3(OFD1):c.936-2A>G rs199902986 0.00011
NM_003640.5(ELP1):c.1704A>G (p.Ser568=) rs138192941 0.00011
NM_003742.4(ABCB11):c.235G>A (p.Val79Met) rs371965391 0.00011
NM_003742.4(ABCB11):c.3411+9C>T rs201287126 0.00011
NM_003865.3(HESX1):c.326G>A (p.Arg109Gln) rs768165720 0.00011
NM_004006.3(DMD):c.2183T>C (p.Ile728Thr) rs192004962 0.00011
NM_004006.3(DMD):c.295A>G (p.Ile99Val) rs149428656 0.00011
NM_004369.4(COL6A3):c.3205G>A (p.Val1069Met) rs115297652 0.00011
NM_004369.4(COL6A3):c.6798C>T (p.Thr2266=) rs116541926 0.00011
NM_004369.4(COL6A3):c.843G>T (p.Val281=) rs376201065 0.00011
NM_004369.4(COL6A3):c.9147C>T (p.Leu3049=) rs183247300 0.00011
NM_004560.4(ROR2):c.2466C>T (p.Asn822=) rs146432734 0.00011
NM_004625.4(WNT7A):c.399C>T (p.Cys133=) rs367697256 0.00011
NM_004643.4(PABPN1):c.787C>A (p.Arg263=) rs886044639 0.00011
NM_004817.4(TJP2):c.1506T>C (p.Asp502=) rs139354927 0.00011
NM_004817.4(TJP2):c.2270C>T (p.Thr757Ile) rs189443180 0.00011
NM_004977.3(KCNC3):c.23C>G (p.Ser8Trp) rs761806977 0.00011
NM_005379.4(MYO1A):c.1961G>A (p.Arg654Gln) rs147147276 0.00011
NM_005379.4(MYO1A):c.92G>A (p.Arg31His) rs727504447 0.00011
NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter) rs199638531 0.00011
NM_005477.3(HCN4):c.3117G>A (p.Pro1039=) rs749785521 0.00011
NM_005529.7(HSPG2):c.2766C>G (p.Leu922=) rs375290305 0.00011
NM_005529.7(HSPG2):c.5628A>G (p.Thr1876=) rs368047383 0.00011
NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys) rs143177272 0.00011
NM_005989.4(AKR1D1):c.593C>T (p.Pro198Leu) rs121918342 0.00011
NM_006445.4(PRPF8):c.2235C>G (p.Ala745=) rs727504109 0.00011
NM_006790.3(MYOT):c.533G>A (p.Arg178His) rs150293853 0.00011
NM_006790.3(MYOT):c.594G>A (p.Val198=) rs372287923 0.00011
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280 0.00011
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342 0.00011
NM_007317.3(KIF22):c.549+8C>A rs374331057 0.00011
NM_012210.4(TRIM32):c.330A>G (p.Gln110=) rs770015462 0.00011
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) rs372359781 0.00011
NM_014714.4(IFT140):c.3874-10A>C rs761503137 0.00011
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_014780.5(CUL7):c.3834C>T (p.Gly1278=) rs141756281 0.00011
NM_015404.4(WHRN):c.2112G>T (p.Leu704=) rs535492772 0.00011
NM_017739.4(POMGNT1):c.652+6G>A rs369289384 0.00011
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln) rs199910690 0.00011
NM_018136.5(ASPM):c.1185A>G (p.Gln395=) rs183395856 0.00011
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg) rs563858170 0.00011
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val) rs201041864 0.00011
NM_020549.5(CHAT):c.406G>A (p.Val136Met) rs201479289 0.00011
NM_020822.3(KCNT1):c.2217G>A (p.Ser739=) rs143678590 0.00011
NM_022124.6(CDH23):c.1450-4G>A rs374549358 0.00011
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) rs757052602 0.00011
NM_022437.3(ABCG8):c.1212-7T>A rs759300542 0.00011
NM_022437.3(ABCG8):c.1647C>T (p.Ala549=) rs369736263 0.00011
NM_022437.3(ABCG8):c.546C>T (p.Ala182=) rs774395087 0.00011
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195 0.00011
NM_024408.4(NOTCH2):c.6957G>A (p.Ala2319=) rs369891453 0.00011
NM_024757.5(EHMT1):c.298G>A (p.Asp100Asn) rs540121859 0.00011
NM_025193.4(HSD3B7):c.7G>A (p.Asp3Asn) rs200555135 0.00011
NM_030665.4(RAI1):c.3678G>A (p.Ser1226=) rs144290584 0.00011
NM_031433.4(MFRP):c.159T>C (p.Gly53=) rs372897338 0.00011
NM_032043.3(BRIP1):c.249A>G (p.Gln83=) rs45528833 0.00011
NM_032119.4(ADGRV1):c.10323G>T (p.Gly3441=) rs373354231 0.00011
NM_032119.4(ADGRV1):c.12818A>G (p.His4273Arg) rs201480340 0.00011
NM_032119.4(ADGRV1):c.13496G>A (p.Arg4499His) rs375122809 0.00011
NM_032119.4(ADGRV1):c.15334C>T (p.Arg5112Cys) rs372400654 0.00011
NM_032119.4(ADGRV1):c.2596C>T (p.Arg866Trp) rs200389929 0.00011
NM_032119.4(ADGRV1):c.7806C>G (p.Pro2602=) rs200241260 0.00011
NM_032119.4(ADGRV1):c.9631T>C (p.Ser3211Pro) rs766184763 0.00011
NM_078470.6(COX15):c.396-3C>G rs200910834 0.00011
NM_080680.3(COL11A2):c.4149A>G (p.Thr1383=) rs746019545 0.00011
NM_138694.4(PKHD1):c.1974C>T (p.Phe658=) rs199635188 0.00011
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn) rs76260483 0.00011
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) rs398124495 0.00011
NM_145239.3(PRRT2):c.879+6C>A rs201887920 0.00011
NM_153033.5(KCTD7):c.621C>A (p.Leu207=) rs376944331 0.00011
NM_170699.3(GPBAR1):c.333C>T (p.Tyr111=) rs201129128 0.00011
NM_170707.4(LMNA):c.1314G>A (p.Gly438=) rs774817302 0.00011
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_172107.4(KCNQ2):c.1301+7C>T rs374877247 0.00011
NM_172107.4(KCNQ2):c.2556G>A (p.Pro852=) rs3810472 0.00011
NM_172364.5(CACNA2D4):c.1807-4del rs756122685 0.00011
NM_173495.3(PTCHD1):c.1110C>G (p.Asp370Glu) rs369968343 0.00011
NM_182961.4(SYNE1):c.20289A>G (p.Ser6763=) rs142327194 0.00011
NM_182961.4(SYNE1):c.8557A>G (p.Thr2853Ala) rs77853132 0.00011
NM_182961.4(SYNE1):c.8839C>G (p.Leu2947Val) rs756300560 0.00011
NM_201384.3(PLEC):c.10743C>T (p.Gly3581=) rs375573910 0.00011
NM_201384.3(PLEC):c.13471A>G (p.Thr4491Ala) rs782756146 0.00011
NM_201384.3(PLEC):c.2064G>A (p.Pro688=) rs374590279 0.00011
NM_201384.3(PLEC):c.6240C>T (p.Arg2080=) rs576688705 0.00011
NM_201384.3(PLEC):c.6841G>A (p.Ala2281Thr) rs200618217 0.00011
NM_201384.3(PLEC):c.7926G>A (p.Pro2642=) rs201098035 0.00011
NM_206933.4(USH2A):c.10341C>T (p.Ala3447=) rs372015149 0.00011
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His) rs138879998 0.00011
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928 0.00010
NM_000137.4(FAH):c.648C>A (p.Ile216=) rs147016995 0.00010
NM_000138.5(FBN1):c.2892C>T (p.Asp964=) rs116945525 0.00010
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460 0.00010
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057 0.00010
NM_000163.5(GHR):c.195A>G (p.Ser65=) rs140501920 0.00010
NM_000163.5(GHR):c.585A>G (p.Gln195=) rs6413483 0.00010
NM_000208.4(INSR):c.1665T>C (p.Ser555=) rs149795690 0.00010
NM_000214.3(JAG1):c.2917-7G>A rs201573066 0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719 0.00010
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592 0.00010
NM_000286.3(PEX12):c.681-2A>C rs187526749 0.00010
NM_000303.3(PMM2):c.441C>T (p.Leu147=) rs146990448 0.00010
NM_000337.6(SGCD):c.394G>A (p.Val132Ile) rs367819390 0.00010
NM_000337.6(SGCD):c.793G>A (p.Val265Ile) rs772185467 0.00010
NM_000384.3(APOB):c.8661T>C (p.Thr2887=) rs144023029 0.00010
NM_000392.5(ABCC2):c.1457C>T (p.Thr486Ile) rs17222589 0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000452.3(SLC10A2):c.654C>T (p.Ser218=) rs140050923 0.00010
NM_000489.6(ATRX):c.831C>T (p.Val277=) rs142561199 0.00010
NM_000514.4(GDNF):c.138G>A (p.Ala46=) rs375385439 0.00010
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg) rs151251082 0.00010
NM_000540.3(RYR1):c.10348-6C>G rs193922837 0.00010
NM_000540.3(RYR1):c.7433C>A (p.Thr2478Asn) rs141298868 0.00010
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) rs120074117 0.00010
NM_000548.5(TSC2):c.1577G>C (p.Ser526Thr) rs376573446 0.00010
NM_000553.6(WRN):c.2067C>T (p.Ser689=) rs191757062 0.00010
NM_000717.5(CA4):c.923C>A (p.Ala308Asp) rs201580764 0.00010
NM_000719.7(CACNA1C):c.4624-8G>A rs529345041 0.00010
NM_000751.3(CHRND):c.1125G>A (p.Val375=) rs143246852 0.00010
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609 0.00010
NM_000883.4(IMPDH1):c.1551C>T (p.Ser517=) rs148875137 0.00010
NM_001015877.2(PHF6):c.414C>T (p.Ser138=) rs200423380 0.00010
NM_001029883.3(PCARE):c.2191G>A (p.Val731Ile) rs201790782 0.00010
NM_001034853.2(RPGR):c.36T>G (p.Gly12=) rs769123303 0.00010
NM_001038603.3(MARVELD2):c.808A>C (p.Ile270Leu) rs139234053 0.00010
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=) rs149534277 0.00010
NM_001077365.2(POMT1):c.330C>G (p.Leu110=) rs138064523 0.00010
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=) rs200363918 0.00010
NM_001110556.2(FLNA):c.6227-7C>T rs370491691 0.00010
NM_001110556.2(FLNA):c.6804T>C (p.Ala2268=) rs376461465 0.00010
NM_001110556.2(FLNA):c.7362G>A (p.Thr2454=) rs369179210 0.00010
NM_001110792.2(MECP2):c.731G>C (p.Gly244Ala) rs61748422 0.00010
NM_001123385.2(BCOR):c.837C>T (p.Leu279=) rs753531268 0.00010
NM_001127644.2(GABRA1):c.*2T>A rs762836110 0.00010
NM_001127671.2(LIFR):c.2280G>A (p.Leu760=) rs370455274 0.00010
NM_001128178.3(NPHP1):c.*1C>T rs376898832 0.00010
NM_001128840.3(CACNA1D):c.3115-3C>T rs779910083 0.00010
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501 0.00010
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp) rs199870606 0.00010
NM_001161352.2(KCNMA1):c.414G>A (p.Ala138=) rs61736948 0.00010
NM_001164508.2(NEB):c.2573C>T (p.Ala858Val) rs372217127 0.00010
NM_001165963.4(SCN1A):c.597A>G (p.Thr199=) rs398123600 0.00010
NM_001191061.2(SLC25A22):c.414C>T (p.Ala138=) rs199887745 0.00010
NM_001206979.2(NR1H4):c.1245T>C (p.Leu415=) rs368975126 0.00010
NM_001267550.2(TTN):c.105876G>A (p.Leu35292=) rs372521529 0.00010
NM_001267550.2(TTN):c.106788A>T (p.Thr35596=) rs369896045 0.00010
NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val) rs377337528 0.00010
NM_001267550.2(TTN):c.11338G>A (p.Glu3780Lys) rs727504586 0.00010
NM_001267550.2(TTN):c.12957G>A (p.Ala4319=) rs762330685 0.00010
NM_001267550.2(TTN):c.13090G>A (p.Val4364Met) rs201506104 0.00010
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr) rs142414432 0.00010
NM_001267550.2(TTN):c.13479T>G (p.Pro4493=) rs368698752 0.00010
NM_001267550.2(TTN):c.15086G>A (p.Arg5029Gln) rs200792058 0.00010
NM_001267550.2(TTN):c.1815T>C (p.Thr605=) rs757604614 0.00010
NM_001267550.2(TTN):c.18295C>T (p.Leu6099Phe) rs370109572 0.00010
NM_001267550.2(TTN):c.18557C>T (p.Thr6186Met) rs200359082 0.00010
NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp) rs369544339 0.00010
NM_001267550.2(TTN):c.25570G>A (p.Gly8524Arg) rs371512914 0.00010
NM_001267550.2(TTN):c.3864T>G (p.Ala1288=) rs368702156 0.00010
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser) rs144609506 0.00010
NM_001267550.2(TTN):c.43G>A (p.Val15Ile) rs201857541 0.00010
NM_001267550.2(TTN):c.44036G>A (p.Arg14679Gln) rs369709751 0.00010
NM_001267550.2(TTN):c.49278T>C (p.Ala16426=) rs372633280 0.00010
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu) rs200778464 0.00010
NM_001267550.2(TTN):c.63960T>A (p.Val21320=) rs397517655 0.00010
NM_001267550.2(TTN):c.66123A>G (p.Pro22041=) rs727504190 0.00010
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=) rs369503828 0.00010
NM_001267550.2(TTN):c.72302C>A (p.Thr24101Asn) rs192962624 0.00010
NM_001267550.2(TTN):c.7469G>A (p.Arg2490His) rs148920986 0.00010
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu) rs142453163 0.00010
NM_001267550.2(TTN):c.77706C>T (p.Asp25902=) rs375764395 0.00010
NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile) rs371362606 0.00010
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys) rs397517719 0.00010
NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr) rs72648215 0.00010
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln) rs200639218 0.00010
NM_001267550.2(TTN):c.93981C>G (p.Val31327=) rs370894846 0.00010
NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val) rs199592861 0.00010
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460 0.00010
NM_001360.3(DHCR7):c.1365C>T (p.Tyr455=) rs557097410 0.00010
NM_001369.3(DNAH5):c.11322C>T (p.Ser3774=) rs267600357 0.00010
NM_001369268.1(ACAN):c.894C>T (p.Ser298=) rs576947078 0.00010
NM_001376.5(DYNC1H1):c.13557G>A (p.Ala4519=) rs35546990 0.00010
NM_001378414.1(HDAC4):c.2346C>T (p.Cys782=) rs144099208 0.00010
NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=) rs371511963 0.00010
NM_001378615.1(CC2D2A):c.2117G>A (p.Arg706Gln) rs778205727 0.00010
NM_001414.4(EIF2B1):c.735C>T (p.Asp245=) rs776489281 0.00010
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val) rs200516164 0.00010
NM_001848.3(COL6A1):c.1437C>T (p.Gly479=) rs762625409 0.00010
NM_001849.4(COL6A2):c.1269G>C (p.Pro423=) rs144136807 0.00010
NM_001849.4(COL6A2):c.189G>A (p.Thr63=) rs143583433 0.00010
NM_001851.6(COL9A1):c.462A>G (p.Val154=) rs150571620 0.00010
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=) rs140608161 0.00010
NM_001966.4(EHHADH):c.1063G>A (p.Gly355Ser) rs150744159 0.00010
NM_002335.4(LRP5):c.4643G>T (p.Cys1548Phe) rs147618989 0.00010
NM_002397.5(MEF2C):c.1207A>G (p.Thr403Ala) rs753002290 0.00010
NM_002397.5(MEF2C):c.180C>T (p.Thr60=) rs773278207 0.00010
NM_002473.6(MYH9):c.2679C>A (p.Thr893=) rs145476120 0.00010
NM_002693.3(POLG):c.2724C>T (p.Ala908=) rs377390914 0.00010
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_002768.5(CHMP1A):c.147C>T (p.Ala49=) rs200606123 0.00010
NM_003392.7(WNT5A):c.427G>A (p.Ala143Thr) rs998033323 0.00010
NM_003482.4(KMT2D):c.2206C>T (p.Pro736Ser) rs552543556 0.00010
NM_003742.4(ABCB11):c.2783G>A (p.Arg928Gln) rs200488448 0.00010
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys) rs189143447 0.00010
NM_004006.3(DMD):c.3432+10A>G rs746260475 0.00010
NM_004006.3(DMD):c.606C>T (p.Ile202=) rs138335295 0.00010
NM_004006.3(DMD):c.7323T>C (p.Thr2441=) rs201919981 0.00010
NM_004369.4(COL6A3):c.3324C>T (p.Thr1108=) rs116239777 0.00010
NM_004369.4(COL6A3):c.5394C>T (p.Arg1798=) rs202086524 0.00010
NM_004369.4(COL6A3):c.543T>C (p.Asp181=) rs898779231 0.00010
NM_004369.4(COL6A3):c.5968C>T (p.Arg1990Trp) rs146546544 0.00010
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile) rs151115778 0.00010
NM_004493.3(HSD17B10):c.147C>G (p.Ala49=) rs367982176 0.00010
NM_004817.4(TJP2):c.2961G>A (p.Pro987=) rs371617466 0.00010
NM_004817.4(TJP2):c.334G>A (p.Ala112Thr) rs144396411 0.00010
NM_005045.4(RELN):c.5274G>T (p.Ala1758=) rs139102992 0.00010
NM_005148.4(UNC119):c.600C>T (p.Ser200=) rs142549864 0.00010
NM_005249.5(FOXG1):c.594C>G (p.Pro198=) rs141088742 0.00010
NM_005633.4(SOS1):c.553A>G (p.Ile185Val) rs143962515 0.00010
NM_005902.4(SMAD3):c.1092C>T (p.Tyr364=) rs753875974 0.00010
NM_006031.6(PCNT):c.6635G>A (p.Arg2212Gln) rs201503338 0.00010
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu) rs76672402 0.00010
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346 0.00010
NM_014208.3(DSPP):c.2874T>C (p.Asn958=) rs374607352 0.00010
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp) rs200517685 0.00010
NM_014918.5(CHSY1):c.489G>A (p.Lys163=) rs146047900 0.00010
NM_014989.7(RIMS1):c.169G>C (p.Val57Leu) rs200005095 0.00010
NM_016239.4(MYO15A):c.7533C>T (p.Pro2511=) rs369717113 0.00010
NM_017534.6(MYH2):c.1959G>A (p.Val653=) rs376346567 0.00010
NM_017780.4(CHD7):c.6682G>A (p.Gly2228Arg) rs200907656 0.00010
NM_018668.5(VPS33B):c.1105+10G>A rs370555380 0.00010
NM_020754.4(ARHGAP31):c.2216C>T (p.Pro739Leu) rs200598971 0.00010
NM_020822.3(KCNT1):c.1995C>T (p.Ile665=) rs757811625 0.00010
NM_022124.6(CDH23):c.4704C>T (p.Thr1568=) rs186866326 0.00010
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn) rs191021194 0.00010
NM_022436.3(ABCG5):c.300C>G (p.Ser100=) rs1212418813 0.00010
NM_022464.5(SIL1):c.849C>T (p.Leu283=) rs372816951 0.00010
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880 0.00010
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619 0.00010
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser) rs199815871 0.00010
NM_024408.4(NOTCH2):c.2196A>C (p.Gly732=) rs782101275 0.00010
NM_025074.7(FRAS1):c.237T>C (p.Ala79=) rs370345916 0.00010
NM_025074.7(FRAS1):c.4729A>T (p.Thr1577Ser) rs183594682 0.00010
NM_025219.3(DNAJC5):c.75C>T (p.Asn25=) rs189308547 0.00010
NM_031433.4(MFRP):c.1256-4G>A rs142533439 0.00010
NM_032119.4(ADGRV1):c.12373A>G (p.Ile4125Val) rs766991551 0.00010
NM_032119.4(ADGRV1):c.1411G>C (p.Val471Leu) rs190427962 0.00010
NM_032119.4(ADGRV1):c.155G>A (p.Arg52His) rs199798095 0.00010
NM_032119.4(ADGRV1):c.17669T>A (p.Met5890Lys) rs142905845 0.00010
NM_032119.4(ADGRV1):c.8295G>T (p.Leu2765Phe) rs141681122 0.00010
NM_058246.4(DNAJB6):c.602G>A (p.Arg201Lys) rs373070679 0.00010
NM_080916.3(DGUOK):c.-1G>A rs754623273 0.00010
NM_080916.3(DGUOK):c.60G>A (p.Lys20=) rs961313523 0.00010
NM_133379.5(TTN):c.11169G>A (p.Thr3723=) rs145004106 0.00010
NM_133497.4(KCNV2):c.168G>A (p.Glu56=) rs201975160 0.00010
NM_138694.4(PKHD1):c.1849T>C (p.Tyr617His) rs141177165 0.00010
NM_138694.4(PKHD1):c.6687T>C (p.Ser2229=) rs148497044 0.00010
NM_138694.4(PKHD1):c.6741C>G (p.Cys2247Trp) rs750190287 0.00010
NM_139343.3(BIN1):c.942C>T (p.His314=) rs370911793 0.00010
NM_144991.3(TSPEAR):c.1469T>A (p.Leu490Gln) rs781994662 0.00010
NM_178138.6(LHX3):c.198C>G (p.Ala66=) rs190916587 0.00010
NM_182961.4(SYNE1):c.10761C>T (p.Ser3587=) rs201715967 0.00010
NM_182961.4(SYNE1):c.17175C>T (p.Thr5725=) rs200002217 0.00010
NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser) rs149272010 0.00010
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=) rs371017408 0.00010
NM_182961.4(SYNE1):c.8360C>T (p.Thr2787Met) rs142676206 0.00010
NM_198506.5(LRIT3):c.710G>A (p.Arg237His) rs150750727 0.00010
NM_201384.3(PLEC):c.10791C>T (p.Pro3597=) rs537994918 0.00010
NM_201384.3(PLEC):c.11015G>C (p.Ser3672Thr) rs782767733 0.00010
NM_201384.3(PLEC):c.13607C>T (p.Ser4536Leu) rs781985768 0.00010
NM_201384.3(PLEC):c.13636G>A (p.Val4546Met) rs573424409 0.00010
NM_201384.3(PLEC):c.2458-7G>A rs372799330 0.00010
NM_201384.3(PLEC):c.6657C>T (p.Ala2219=) rs762600030 0.00010
NM_206933.4(USH2A):c.15306C>T (p.Ala5102=) rs149506333 0.00010
NM_206933.4(USH2A):c.7541A>G (p.Asn2514Ser) rs150060240 0.00010
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys) rs138444697 0.00010
NM_207361.6(FREM2):c.6333C>T (p.Gly2111=) rs116763572 0.00010
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00010
NM_213599.3(ANO5):c.242A>G (p.Asp81Gly) rs199501657 0.00010
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083 0.00009
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930 0.00009
NM_000035.4(ALDOB):c.488C>T (p.Ala163Val) rs202210810 0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474 0.00009
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945 0.00009
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_000070.3(CAPN3):c.2311G>A (p.Ala771Thr) rs886043191 0.00009
NM_000080.4(CHRNE):c.465C>T (p.Phe155=) rs139625105 0.00009
NM_000093.5(COL5A1):c.804C>T (p.Gly268=) rs147729713 0.00009
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val) rs143677764 0.00009
NM_000152.5(GAA):c.1482A>G (p.Thr494=) rs202064115 0.00009
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224 0.00009
NM_000152.5(GAA):c.664G>A (p.Val222Met) rs374569672 0.00009
NM_000152.5(GAA):c.711G>A (p.Ala237=) rs368328598 0.00009
NM_000157.4(GBA1):c.605G>A (p.Arg202Gln) rs398123531 0.00009
NM_000161.3(GCH1):c.610G>A (p.Val204Ile) rs200891969 0.00009
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp) rs1800938 0.00009
NM_000214.3(JAG1):c.1335G>A (p.Gln445=) rs759545669 0.00009
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) rs199505265 0.00009
NM_000231.3(SGCG):c.506-7T>G rs774582375 0.00009
NM_000257.4(MYH7):c.5361A>G (p.Glu1787=) rs201171029 0.00009
NM_000260.4(MYO7A):c.2088C>T (p.Tyr696=) rs781964494 0.00009
NM_000260.4(MYO7A):c.3750+7G>A rs397516305 0.00009
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905 0.00009
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu) rs190540405 0.00009
NM_000388.4(CASR):c.114T>C (p.Phe38=) rs61733590 0.00009
NM_000392.5(ABCC2):c.2901C>A (p.Tyr967Ter) rs17222547 0.00009
NM_000392.5(ABCC2):c.3834G>A (p.Val1278=) rs150472537 0.00009
NM_000426.4(LAMA2):c.2736G>A (p.Ala912=) rs142671449 0.00009
NM_000428.3(LTBP2):c.1686+8C>G rs563097395 0.00009
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00009
NM_000452.3(SLC10A2):c.363C>T (p.Gly121=) rs143992162 0.00009
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=) rs751225159 0.00009
NM_000458.4(HNF1B):c.1654-9T>A rs200579660 0.00009
NM_000463.3(UGT1A1):c.189C>T (p.Asp63=) rs191471887 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu) rs140502196 0.00009
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=) rs146804928 0.00009
NM_000492.4(CFTR):c.3718-24G>A rs374013084 0.00009
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp) rs4148725 0.00009
NM_000515.5(GH1):c.387C>T (p.Tyr129=) rs370785603 0.00009
NM_000541.5(SAG):c.474A>G (p.Thr158=) rs886042737 0.00009
NM_000541.5(SAG):c.843G>A (p.Thr281=) rs374774483 0.00009
NM_000548.5(TSC2):c.4302C>T (p.Gly1434=) rs137854000 0.00009
NM_000548.5(TSC2):c.5142G>A (p.Gln1714=) rs147147042 0.00009
NM_000601.6(HGF):c.270T>C (p.Asp90=) rs145598174 0.00009
NM_000719.7(CACNA1C):c.1341C>T (p.Ile447=) rs377643814 0.00009
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=) rs201345843 0.00009
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=) rs563090568 0.00009
NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly) rs549476254 0.00009
NM_000719.7(CACNA1C):c.927A>G (p.Ala309=) rs369079645 0.00009
NM_000744.7(CHRNA4):c.729G>A (p.Pro243=) rs121912253 0.00009
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=) rs367546924 0.00009
NM_001077365.2(POMT1):c.1149C>T (p.His383=) rs202121299 0.00009
NM_001083961.2(WDR62):c.1043+3A>G rs587784541 0.00009
NM_001103.4(ACTN2):c.2659G>A (p.Ala887Thr) rs148972050 0.00009
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile) rs61753966 0.00009
NM_001110792.2(MECP2):c.851C>T (p.Pro284Leu) rs61750243 0.00009
NM_001111125.3(IQSEC2):c.4293C>T (p.Ile1431=) rs782536136 0.00009
NM_001127222.2(CACNA1A):c.2867G>T (p.Arg956Leu) rs551380805 0.00009
NM_001127222.2(CACNA1A):c.6257G>T (p.Gly2086Val) rs765051582 0.00009
NM_001127649.3(PEX26):c.33C>G (p.Pro11=) rs199668827 0.00009
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_001130438.3(SPTAN1):c.3078C>T (p.Pro1026=) rs779993051 0.00009
NM_001130987.2(DYSF):c.1008C>T (p.Asp336=) rs146687581 0.00009
NM_001130987.2(DYSF):c.4037C>T (p.Ala1346Val) rs201476613 0.00009
NM_001130987.2(DYSF):c.4831G>A (p.Ala1611Thr) rs143163327 0.00009
NM_001130987.2(DYSF):c.690C>T (p.Pro230=) rs376293526 0.00009
NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe) rs201028196 0.00009
NM_001184880.2(PCDH19):c.2522G>A (p.Arg841His) rs756818874 0.00009
NM_001184880.2(PCDH19):c.545G>C (p.Gly182Ala) rs727504067 0.00009
NM_001191061.2(SLC25A22):c.579G>A (p.Thr193=) rs141430143 0.00009
NM_001195263.2(PDZD7):c.1638T>C (p.Asn546=) rs760557332 0.00009
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met) rs201649140 0.00009
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_001199799.2(ILDR1):c.792G>A (p.Pro264=) rs186672543 0.00009
NM_001206979.2(NR1H4):c.795C>T (p.Asn265=) rs147030757 0.00009
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys) rs139805921 0.00009
NM_001256317.3(TMPRSS3):c.326G>A (p.Arg109Gln) rs139484231 0.00009
NM_001256789.3(CACNA1F):c.5827G>A (p.Asp1943Asn) rs374663693 0.00009
NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val) rs200675195 0.00009
NM_001267550.2(TTN):c.13340C>T (p.Ser4447Leu) rs777547090 0.00009
NM_001267550.2(TTN):c.13458C>T (p.Asp4486=) rs748885610 0.00009
NM_001267550.2(TTN):c.13884C>T (p.Ser4628=) rs183328495 0.00009
NM_001267550.2(TTN):c.14049C>T (p.Ser4683=) rs370208081 0.00009
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr) rs143030869 0.00009
NM_001267550.2(TTN):c.16057C>A (p.Arg5353=) rs267599069 0.00009
NM_001267550.2(TTN):c.16581C>T (p.Val5527=) rs373179717 0.00009
NM_001267550.2(TTN):c.17184A>G (p.Glu5728=) rs200984007 0.00009
NM_001267550.2(TTN):c.17806A>G (p.Ile5936Val) rs72648945 0.00009
NM_001267550.2(TTN):c.186C>T (p.Arg62=) rs528853682 0.00009
NM_001267550.2(TTN):c.21475G>A (p.Val7159Ile) rs371267140 0.00009
NM_001267550.2(TTN):c.21642C>T (p.Asn7214=) rs752620885 0.00009
NM_001267550.2(TTN):c.2230G>A (p.Ala744Thr) rs144639994 0.00009
NM_001267550.2(TTN):c.25145G>A (p.Arg8382His) rs199598066 0.00009
NM_001267550.2(TTN):c.25557C>T (p.Gly8519=) rs372320172 0.00009
NM_001267550.2(TTN):c.25569C>T (p.Ala8523=) rs375022009 0.00009
NM_001267550.2(TTN):c.2611G>T (p.Val871Leu) rs72647861 0.00009
NM_001267550.2(TTN):c.29317G>A (p.Ala9773Thr) rs371163094 0.00009
NM_001267550.2(TTN):c.30309T>C (p.Phe10103=) rs762141482 0.00009
NM_001267550.2(TTN):c.30619C>G (p.Pro10207Ala) rs781304514 0.00009
NM_001267550.2(TTN):c.31875A>C (p.Thr10625=) rs182934463 0.00009
NM_001267550.2(TTN):c.33305G>A (p.Arg11102His) rs368777046 0.00009
NM_001267550.2(TTN):c.34982T>C (p.Val11661Ala) rs199561793 0.00009
NM_001267550.2(TTN):c.39166G>T (p.Val13056Leu) rs727504201 0.00009
NM_001267550.2(TTN):c.40395A>G (p.Ile13465Met) rs766145596 0.00009
NM_001267550.2(TTN):c.41019G>A (p.Pro13673=) rs762470432 0.00009
NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile) rs375474669 0.00009
NM_001267550.2(TTN):c.42978C>T (p.Tyr14326=) rs369959066 0.00009
NM_001267550.2(TTN):c.44589G>A (p.Thr14863=) rs369800903 0.00009
NM_001267550.2(TTN):c.44734C>T (p.His14912Tyr) rs766391823 0.00009
NM_001267550.2(TTN):c.47242A>C (p.Asn15748His) rs368988689 0.00009
NM_001267550.2(TTN):c.52317A>G (p.Lys17439=) rs370450339 0.00009
NM_001267550.2(TTN):c.53780T>C (p.Leu17927Pro) rs369678018 0.00009
NM_001267550.2(TTN):c.53903G>A (p.Arg17968His) rs200100660 0.00009
NM_001267550.2(TTN):c.54053A>T (p.Lys18018Met) rs368425364 0.00009
NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln) rs727503603 0.00009
NM_001267550.2(TTN):c.57544+7dup rs750881309 0.00009
NM_001267550.2(TTN):c.59849G>A (p.Arg19950Gln) rs374914334 0.00009
NM_001267550.2(TTN):c.63907G>A (p.Val21303Met) rs372812312 0.00009
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His) rs72646868 0.00009
NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn) rs368924655 0.00009
NM_001267550.2(TTN):c.70864G>A (p.Val23622Ile) rs72646892 0.00009
NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu) rs55992239 0.00009
NM_001267550.2(TTN):c.75259G>A (p.Ala25087Thr) rs759110420 0.00009
NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp) rs534003014 0.00009
NM_001267550.2(TTN):c.79334G>A (p.Arg26445His) rs764254441 0.00009
NM_001267550.2(TTN):c.81565C>G (p.Leu27189Val) rs142391957 0.00009
NM_001267550.2(TTN):c.83059C>T (p.Leu27687=) rs200992636 0.00009
NM_001267550.2(TTN):c.84965G>A (p.Arg28322His) rs373532064 0.00009
NM_001267550.2(TTN):c.87280G>A (p.Glu29094Lys) rs199501185 0.00009
NM_001267550.2(TTN):c.89947G>A (p.Val29983Met) rs397517746 0.00009
NM_001267550.2(TTN):c.94827C>T (p.Tyr31609=) rs771635198 0.00009
NM_001267550.2(TTN):c.96989T>C (p.Ile32330Thr) rs201023432 0.00009
NM_001267550.2(TTN):c.9955G>A (p.Val3319Ile) rs375533809 0.00009
NM_001271.4(CHD2):c.753A>G (p.Glu251=) rs368486032 0.00009
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=) rs376923877 0.00009
NM_001277313.2(FMN1):c.2044-1533T>G rs200018358 0.00009
NM_001291867.2(NHS):c.3408G>A (p.Thr1136=) rs370811549 0.00009
NM_001351132.2(PEX5):c.1245C>T (p.Asn415=) rs138243167 0.00009
NM_001360.3(DHCR7):c.1155C>T (p.Ala385=) rs777517985 0.00009
NM_001360.3(DHCR7):c.1362G>A (p.Lys454=) rs147850435 0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_001369268.1(ACAN):c.2261T>C (p.Leu754Pro) rs577419060 0.00009
NM_001374385.1(ATP8B1):c.903G>A (p.Arg301=) rs762363452 0.00009
NM_001378120.1(MBD5):c.4258T>G (p.Ser1420Ala) rs756608508 0.00009
NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile) rs549757247 0.00009
NM_001378609.3(OTOGL):c.1940G>A (p.Trp647Ter) rs377708973 0.00009
NM_001378609.3(OTOGL):c.5702T>C (p.Ile1901Thr) rs775475186 0.00009
NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu) rs201465430 0.00009
NM_001379081.2(FREM1):c.261C>T (p.Asn87=) rs370943663 0.00009
NM_001379081.2(FREM1):c.571G>A (p.Gly191Arg) rs370556388 0.00009
NM_001384140.1(PCDH15):c.2619A>G (p.Glu873=) rs150784450 0.00009
NM_001384474.1(LOXHD1):c.5514G>A (p.Glu1838=) rs749182319 0.00009
NM_001384732.1(CPLANE1):c.608A>G (p.Tyr203Cys) rs144969169 0.00009
NM_001429.4(EP300):c.1572G>A (p.Thr524=) rs746398873 0.00009
NM_001429.4(EP300):c.3591-6C>T rs368437789 0.00009
NM_001429.4(EP300):c.6315C>T (p.Gly2105=) rs528866215 0.00009
NM_001558.4(IL10RA):c.170A>G (p.Tyr57Cys) rs201643277 0.00009
NM_001614.5(ACTG1):c.231C>T (p.Thr77=) rs375450454 0.00009
NM_001692.4(ATP6V1B1):c.669C>T (p.Ile223=) rs372233648 0.00009
NM_001793.6(CDH3):c.2364C>T (p.Asp788=) rs144637479 0.00009
NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln) rs146288748 0.00009
NM_001849.4(COL6A2):c.1458+9_1458+14del rs762583937 0.00009
NM_001849.4(COL6A2):c.2745G>A (p.Ser915=) rs144516266 0.00009
NM_001849.4(COL6A2):c.2784C>T (p.Ile928=) rs199501232 0.00009
NM_001849.4(COL6A2):c.999+10G>T rs376378709 0.00009
NM_001927.4(DES):c.250G>A (p.Gly84Ser) rs200545412 0.00009
NM_001927.4(DES):c.642C>T (p.Asp214=) rs370239228 0.00009
NM_001953.5(TYMP):c.-4A>G rs571316178 0.00009
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=) rs147633551 0.00009
NM_002693.3(POLG):c.1842C>T (p.Tyr614=) rs62640033 0.00009
NM_002693.3(POLG):c.2220C>T (p.Asn740=) rs141538857 0.00009
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=) rs143238917 0.00009
NM_002968.3(SALL1):c.2373C>A (p.Gly791=) rs377295510 0.00009
NM_003482.4(KMT2D):c.2222C>T (p.Pro741Leu) rs587778453 0.00009
NM_003742.4(ABCB11):c.1055G>A (p.Gly352Glu) rs201351924 0.00009
NM_003816.3(ADAM9):c.540G>A (p.Lys180=) rs186443262 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_004006.3(DMD):c.530+7A>T rs72470523 0.00009
NM_004006.3(DMD):c.7427A>G (p.Asn2476Ser) rs757394130 0.00009
NM_004006.3(DMD):c.9888C>T (p.Pro3296=) rs146543659 0.00009
NM_004369.4(COL6A3):c.3507C>T (p.Asn1169=) rs138426138 0.00009
NM_004369.4(COL6A3):c.4663G>A (p.Asp1555Asn) rs763162762 0.00009
NM_004369.4(COL6A3):c.6053C>T (p.Ala2018Val) rs200239695 0.00009
NM_004369.4(COL6A3):c.6157-4T>G rs536696110 0.00009
NM_004369.4(COL6A3):c.7702C>T (p.Leu2568=) rs201479636 0.00009
NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val) rs369459749 0.00009
NM_004380.3(CREBBP):c.681T>C (p.Pro227=) rs201193684 0.00009
NM_004393.6(DAG1):c.2349T>C (p.Leu783=) rs201280782 0.00009
NM_004447.6(EPS8):c.1822A>C (p.Lys608Gln) rs200844984 0.00009
NM_004519.4(KCNQ3):c.1226C>G (p.Pro409Arg) rs149272208 0.00009
NM_004519.4(KCNQ3):c.954C>A (p.Gly318=) rs143224896 0.00009
NM_004530.6(MMP2):c.932C>T (p.Thr311Met) rs572726028 0.00009
NM_004656.4(BAP1):c.186C>T (p.Val62=) rs199608453 0.00009
NM_004698.4(PRPF3):c.957T>C (p.Pro319=) rs199721048 0.00009
NM_004813.4(PEX16):c.262G>A (p.Val88Met) rs567165324 0.00009
NM_004817.4(TJP2):c.1953G>T (p.Gly651=) rs750134026 0.00009
NM_005379.4(MYO1A):c.2082C>G (p.Arg694=) rs189900453 0.00009
NM_005379.4(MYO1A):c.2872A>G (p.Ser958Gly) rs184810732 0.00009
NM_005477.3(HCN4):c.1815G>A (p.Thr605=) rs367753936 0.00009
NM_005506.4(SCARB2):c.1385G>A (p.Gly462Glu) rs117157204 0.00009
NM_005529.7(HSPG2):c.1086G>A (p.Lys362=) rs189837148 0.00009
NM_005529.7(HSPG2):c.2124C>T (p.Ser708=) rs139220302 0.00009
NM_005529.7(HSPG2):c.8076C>T (p.Gly2692=) rs372321167 0.00009
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00009
NM_005802.5(TOPORS):c.2314C>T (p.Leu772=) rs371017482 0.00009
NM_005802.5(TOPORS):c.2344A>G (p.Thr782Ala) rs746320974 0.00009
NM_005881.4(BCKDK):c.1104C>T (p.Phe368=) rs201614853 0.00009
NM_005902.4(SMAD3):c.885G>A (p.Arg295=) rs139616052 0.00009
NM_006005.3(WFS1):c.173C>T (p.Ala58Val) rs369671890 0.00009
NM_006019.4(TCIRG1):c.2119-10C>T rs377606178 0.00009
NM_006031.6(PCNT):c.7300C>A (p.Leu2434Ile) rs112633352 0.00009
NM_006662.3(SRCAP):c.5019G>A (p.Pro1673=) rs202139170 0.00009
NM_006662.3(SRCAP):c.7173G>A (p.Pro2391=) rs150413453 0.00009
NM_006941.4(SOX10):c.574G>A (p.Gly192Ser) rs200475773 0.00009
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His) rs536758576 0.00009
NM_007118.4(TRIO):c.8824C>G (p.Gln2942Glu) rs377248579 0.00009
NM_007126.5(VCP):c.1875G>T (p.Arg625=) rs201410035 0.00009
NM_007255.3(B4GALT7):c.489C>T (p.Asp163=) rs372857848 0.00009
NM_012301.4(MAGI2):c.1737C>T (p.Asp579=) rs142555732 0.00009
NM_014140.4(SMARCAL1):c.2322G>A (p.Ser774=) rs139445683 0.00009
NM_014319.5(LEMD3):c.282C>G (p.Val94=) rs867412512 0.00009
NM_014363.6(SACS):c.1255A>G (p.Ile419Val) rs767818359 0.00009
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr) rs371869943 0.00009
NM_014795.4(ZEB2):c.3219C>T (p.His1073=) rs139944383 0.00009
NM_015102.5(NPHP4):c.3012G>A (p.Thr1004=) rs185162256 0.00009
NM_015166.4(MLC1):c.93C>T (p.Asp31=) rs199625892 0.00009
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His) rs183419371 0.00009
NM_015311.3(OBSL1):c.342C>T (p.Ala114=) rs760053992 0.00009
NM_015311.3(OBSL1):c.993C>A (p.Ala331=) rs771686909 0.00009
NM_015338.6(ASXL1):c.2387G>C (p.Trp796Ser) rs770674396 0.00009
NM_015629.4(PRPF31):c.1374+9C>T rs727504108 0.00009
NM_016239.4(MYO15A):c.6764+2T>A rs763975867 0.00009
NM_016356.5(DCDC2):c.68G>T (p.Arg23Leu) rs745333409 0.00009
NM_017617.5(NOTCH1):c.1725C>T (p.Cys575=) rs369070550 0.00009
NM_017777.4(MKS1):c.516-10T>C rs375046501 0.00009
NM_018006.5(TRMU):c.351T>C (p.Asn117=) rs117710834 0.00009
NM_018136.5(ASPM):c.2994G>A (p.Pro998=) rs554545885 0.00009
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130 0.00009
NM_019066.5(MAGEL2):c.474A>G (p.Pro158=) rs750481560 0.00009
NM_020822.3(KCNT1):c.2008+10G>C rs752453368 0.00009
NM_020822.3(KCNT1):c.2052G>A (p.Thr684=) rs376314779 0.00009
NM_020822.3(KCNT1):c.981G>A (p.Ser327=) rs373317695 0.00009
NM_022042.4(SLC26A1):c.747G>A (p.Trp249Ter) rs536555705 0.00009
NM_022124.6(CDH23):c.2394C>T (p.Thr798=) rs373269394 0.00009
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr) rs369395479 0.00009
NM_022356.4(P3H1):c.327C>T (p.Phe109=) rs370773974 0.00009
NM_022437.3(ABCG8):c.870C>T (p.Thr290=) rs117221284 0.00009
NM_022455.5(NSD1):c.1364T>C (p.Met455Thr) rs143585233 0.00009
NM_023110.3(FGFR1):c.1978-8del rs112311314 0.00009
NM_024408.4(NOTCH2):c.6477G>A (p.Thr2159=) rs145566650 0.00009
NM_024596.5(MCPH1):c.1458A>G (p.Lys486=) rs192003514 0.00009
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu) rs62625271 0.00009
NM_024757.5(EHMT1):c.3848A>C (p.Glu1283Ala) rs398124408 0.00009
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys) rs373269573 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_025193.4(HSD3B7):c.*1C>T rs781013516 0.00009
NM_025243.4(SLC19A3):c.325G>A (p.Val109Ile) rs780569649 0.00009
NM_030662.4(MAP2K2):c.919+4C>T rs763424788 0.00009
NM_032119.4(ADGRV1):c.14373T>A (p.Ala4791=) rs375062187 0.00009
NM_130837.3(OPA1):c.790-4T>A rs374509936 0.00009
NM_130839.5(UBE3A):c.1338T>C (p.Phe446=) rs371154816 0.00009
NM_133379.5(TTN):c.13746A>G (p.Gln4582=) rs201945197 0.00009
NM_133433.4(NIPBL):c.5511A>G (p.Arg1837=) rs146702130 0.00009
NM_138694.4(PKHD1):c.2162C>T (p.Thr721Met) rs140608845 0.00009
NM_138694.4(PKHD1):c.282-3C>T rs535210707 0.00009
NM_138694.4(PKHD1):c.4866C>A (p.Leu1622=) rs571966529 0.00009
NM_138694.4(PKHD1):c.5193G>A (p.Val1731=) rs146531432 0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_138694.4(PKHD1):c.8364C>T (p.Thr2788=) rs777017196 0.00009
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=) rs760710708 0.00009
NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=) rs371508721 0.00009
NM_144508.5(KNL1):c.606C>T (p.Ser202=) rs776234628 0.00009
NM_147127.5(EVC2):c.765C>T (p.Asn255=) rs139129327 0.00009
NM_152564.5(VPS13B):c.7780-19C>T rs199981958 0.00009
NM_153676.4(USH1C):c.2124T>C (p.Ser708=) rs369021714 0.00009
NM_170699.3(GPBAR1):c.-1G>A rs200558126 0.00009
NM_172364.5(CACNA2D4):c.1968C>T (p.His656=) rs200706568 0.00009
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850 0.00009
NM_182914.3(SYNE2):c.19323C>T (p.Ser6441=) rs186839881 0.00009
NM_182961.4(SYNE1):c.16038A>G (p.Leu5346=) rs192936944 0.00009
NM_182961.4(SYNE1):c.21705G>A (p.Lys7235=) rs148606479 0.00009
NM_182961.4(SYNE1):c.2427G>A (p.Glu809=) rs749509412 0.00009
NM_194248.3(OTOF):c.4820G>A (p.Arg1607Gln) rs141800430 0.00009
NM_198525.3(KIF7):c.72A>C (p.Pro24=) rs773325406 0.00009
NM_201384.3(PLEC):c.10157C>T (p.Ala3386Val) rs532234200 0.00009
NM_201384.3(PLEC):c.10728C>T (p.Gly3576=) rs372840016 0.00009
NM_201384.3(PLEC):c.11077G>A (p.Ala3693Thr) rs369497741 0.00009
NM_201384.3(PLEC):c.113-6C>T rs782235036 0.00009
NM_201384.3(PLEC):c.11418C>T (p.Thr3806=) rs559510708 0.00009
NM_201384.3(PLEC):c.12564C>T (p.Gly4188=) rs140191309 0.00009
NM_201384.3(PLEC):c.12783C>T (p.Ala4261=) rs377524932 0.00009
NM_201384.3(PLEC):c.4855G>A (p.Glu1619Lys) rs782026068 0.00009
NM_201384.3(PLEC):c.6248C>T (p.Ala2083Val) rs781878105 0.00009
NM_201384.3(PLEC):c.6464C>T (p.Ala2155Val) rs201922111 0.00009
NM_201384.3(PLEC):c.792C>T (p.Arg264=) rs782391508 0.00009
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile) rs727504307 0.00009
NM_206933.4(USH2A):c.9401G>A (p.Arg3134Gln) rs780020144 0.00009
NM_213599.3(ANO5):c.1332+8A>G rs368857740 0.00009
NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln) rs139618850 0.00009
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792 0.00008
NM_000092.5(COL4A4):c.1460-6G>A rs771213140 0.00008
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His) rs56010818 0.00008
NM_000124.4(ERCC6):c.4143C>T (p.Ser1381=) rs375921453 0.00008
NM_000142.5(FGFR3):c.1830C>G (p.Ser610=) rs758618182 0.00008
NM_000142.5(FGFR3):c.335G>A (p.Arg112Gln) rs758163128 0.00008
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00008
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000168.6(GLI3):c.1182A>G (p.Pro394=) rs748606221 0.00008
NM_000168.6(GLI3):c.363C>T (p.His121=) rs150295615 0.00008
NM_000208.4(INSR):c.2256C>G (p.Ala752=) rs376497490 0.00008
NM_000235.4(LIPA):c.483T>C (p.Asn161=) rs369755163 0.00008
NM_000271.5(NPC1):c.2911+10C>T rs370382673 0.00008
NM_000271.5(NPC1):c.3528G>A (p.Thr1176=) rs150602021 0.00008
NM_000346.4(SOX9):c.685+7C>T rs370951695 0.00008
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_000368.5(TSC1):c.1276G>T (p.Asp426Tyr) rs765695557 0.00008
NM_000377.3(WAS):c.264C>T (p.Tyr88=) rs150520117 0.00008
NM_000377.3(WAS):c.285G>A (p.Leu95=) rs781799471 0.00008
NM_000426.4(LAMA2):c.6345C>T (p.Pro2115=) rs200364660 0.00008
NM_000443.4(ABCB4):c.3477G>A (p.Thr1159=) rs368458295 0.00008
NM_000444.6(PHEX):c.1917C>A (p.Thr639=) rs201343697 0.00008
NM_000489.6(ATRX):c.1868A>G (p.Lys623Arg) rs145678415 0.00008
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys) rs199791061 0.00008
NM_000501.4(ELN):c.1358-198G>A rs192461213 0.00008
NM_000535.7(PMS2):c.2127C>T (p.Phe709=) rs199943748 0.00008
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=) rs371831239 0.00008
NM_000843.4(GRM6):c.588C>T (p.Pro196=) rs756171835 0.00008
NM_001005242.3(PKP2):c.918C>T (p.Pro306=) rs368656084 0.00008
NM_001008537.3(NEXMIF):c.2672A>G (p.Asn891Ser) rs186535459 0.00008
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile) rs185715460 0.00008
NM_001040142.2(SCN2A):c.5574A>G (p.Leu1858=) rs767592553 0.00008
NM_001048166.1(STIL):c.2259C>G (p.Ser753=) rs774035449 0.00008
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu) rs139660235 0.00008
NM_001083961.2(WDR62):c.4122C>T (p.Gly1374=) rs773948810 0.00008
NM_001110792.2(MECP2):c.1473G>A (p.Thr491=) rs587781033 0.00008
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp) rs62641228 0.00008
NM_001127671.2(LIFR):c.2937G>A (p.Ser979=) rs201711670 0.00008
NM_001130438.3(SPTAN1):c.2233C>A (p.Gln745Lys) rs769094437 0.00008
NM_001130438.3(SPTAN1):c.6763C>T (p.Arg2255Cys) rs372779649 0.00008
NM_001130823.3(DNMT1):c.2937C>T (p.Pro979=) rs150359172 0.00008
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met) rs775539496 0.00008
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=) rs187423999 0.00008
NM_001134407.3(GRIN2A):c.4330G>A (p.Val1444Ile) rs150574045 0.00008
NM_001134407.3(GRIN2A):c.4353A>T (p.Arg1451Ser) rs143693526 0.00008
NM_001146079.2(CLDN14):c.321C>T (p.Cys107=) rs764548516 0.00008
NM_001193315.2(VIPAS39):c.1254T>C (p.Asn418=) rs188105111 0.00008
NM_001199107.2(TBC1D24):c.1425C>T (p.Pro475=) rs370869383 0.00008
NM_001242957.3(MAK):c.492-4A>G rs540144059 0.00008
NM_001267550.2(TTN):c.104640G>A (p.Glu34880=) rs373134178 0.00008
NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile) rs200782068 0.00008
NM_001267550.2(TTN):c.105757G>A (p.Val35253Met) rs373655492 0.00008
NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu) rs772957495 0.00008
NM_001267550.2(TTN):c.107384T>C (p.Val35795Ala) rs549598246 0.00008
NM_001267550.2(TTN):c.12181G>A (p.Ala4061Thr) rs397517829 0.00008
NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr) rs191968963 0.00008
NM_001267550.2(TTN):c.20465A>G (p.Asn6822Ser) rs371518764 0.00008
NM_001267550.2(TTN):c.21276C>T (p.Thr7092=) rs372264428 0.00008
NM_001267550.2(TTN):c.2760C>T (p.His920=) rs138788406 0.00008
NM_001267550.2(TTN):c.31071C>T (p.His10357=) rs368973334 0.00008
NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr) rs532102837 0.00008
NM_001267550.2(TTN):c.3813T>C (p.Leu1271=) rs773274762 0.00008
NM_001267550.2(TTN):c.39709+9G>C rs765647346 0.00008
NM_001267550.2(TTN):c.47860G>A (p.Ala15954Thr) rs377037421 0.00008
NM_001267550.2(TTN):c.48462G>A (p.Thr16154=) rs202141158 0.00008
NM_001267550.2(TTN):c.54855G>A (p.Thr18285=) rs200410212 0.00008
NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg) rs772677752 0.00008
NM_001267550.2(TTN):c.70163G>A (p.Arg23388Gln) rs55853138 0.00008
NM_001267550.2(TTN):c.76610G>A (p.Arg25537His) rs561977468 0.00008
NM_001267550.2(TTN):c.80859G>A (p.Thr26953=) rs771257647 0.00008
NM_001267550.2(TTN):c.8184C>T (p.Val2728=) rs753356474 0.00008
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile) rs200476500 0.00008
NM_001267550.2(TTN):c.96172C>T (p.Arg32058Trp) rs201463708 0.00008
NM_001267550.2(TTN):c.99582G>A (p.Pro33194=) rs777730098 0.00008
NM_001287.6(CLCN7):c.1155C>T (p.Gly385=) rs771365308 0.00008
NM_001292063.2(OTOG):c.450A>G (p.Thr150=) rs779238030 0.00008
NM_001330078.2(NRXN1):c.2037G>A (p.Pro679=) rs199714221 0.00008
NM_001330078.2(NRXN1):c.498G>A (p.Ala166=) rs201212909 0.00008
NM_001367721.1(CASK):c.1718C>T (p.Thr573Ile) rs141840001 0.00008
NM_001376256.1(CRYM):c.474G>A (p.Gln158=) rs371633413 0.00008
NM_001378615.1(CC2D2A):c.1017+1G>A rs200407856 0.00008
NM_001378615.1(CC2D2A):c.881-8C>T rs114387988 0.00008
NM_001384474.1(LOXHD1):c.6071C>T (p.Thr2024Met) rs369043488 0.00008
NM_001429.4(EP300):c.6729C>T (p.Gly2243=) rs765194008 0.00008
NM_001458.5(FLNC):c.2040C>T (p.Thr680=) rs368121231 0.00008
NM_001458.5(FLNC):c.4488T>C (p.Asn1496=) rs377258966 0.00008
NM_001793.6(CDH3):c.2475C>T (p.Gly825=) rs543214840 0.00008
NM_001844.5(COL2A1):c.2307C>T (p.Asp769=) rs145023922 0.00008
NM_001844.5(COL2A1):c.3952G>A (p.Glu1318Lys) rs781229123 0.00008
NM_001848.3(COL6A1):c.2464+9C>T rs368651226 0.00008
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_001849.4(COL6A2):c.2301C>T (p.His767=) rs138371054 0.00008
NM_001852.4(COL9A2):c.919G>A (p.Gly307Ser) rs184896618 0.00008
NM_001927.4(DES):c.216C>A (p.Ser72Arg) rs375719734 0.00008
NM_002047.4(GARS1):c.1716G>A (p.Pro572=) rs370608239 0.00008
NM_002397.5(MEF2C):c.363C>T (p.Asn121=) rs186648089 0.00008
NM_002427.4(MMP13):c.443T>A (p.Val148Glu) rs374419716 0.00008
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg) rs375401970 0.00008
NM_002546.4(TNFRSF11B):c.69G>A (p.Thr23=) rs146450643 0.00008
NM_002693.3(POLG):c.1977C>T (p.His659=) rs62640030 0.00008
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) rs139590686 0.00008
NM_002834.5(PTPN11):c.1740T>C (p.Tyr580=) rs139188627 0.00008
NM_003482.4(KMT2D):c.9474G>C (p.Gln3158His) rs770522446 0.00008
NM_003742.4(ABCB11):c.2565A>G (p.Gly855=) rs1014304470 0.00008
NM_003742.4(ABCB11):c.279C>T (p.Tyr93=) rs375137002 0.00008
NM_003865.3(HESX1):c.541A>G (p.Thr181Ala) rs28936704 0.00008
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_004006.3(DMD):c.5548A>G (p.Lys1850Glu) rs141261536 0.00008
NM_004006.3(DMD):c.8829G>A (p.Thr2943=) rs150766816 0.00008
NM_004369.4(COL6A3):c.34G>A (p.Val12Ile) rs137910388 0.00008
NM_004369.4(COL6A3):c.4849G>A (p.Ala1617Thr) rs200433282 0.00008
NM_004519.4(KCNQ3):c.1935A>G (p.Gln645=) rs587781011 0.00008
NM_004560.4(ROR2):c.1565G>A (p.Arg522Gln) rs201986784 0.00008
NM_004820.5(CYP7B1):c.645T>C (p.Asp215=) rs535511484 0.00008
NM_005045.4(RELN):c.2637C>T (p.Val879=) rs544717229 0.00008
NM_005476.7(GNE):c.1412-5C>T rs369078814 0.00008
NM_005476.7(GNE):c.165-9C>T rs760509369 0.00008
NM_005529.7(HSPG2):c.4413C>T (p.Pro1471=) rs376929779 0.00008
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_006017.3(PROM1):c.321A>C (p.Ala107=) rs371975235 0.00008
NM_006019.4(TCIRG1):c.826C>T (p.Arg276Trp) rs543099977 0.00008
NM_006031.6(PCNT):c.6876C>T (p.Ala2292=) rs761995771 0.00008
NM_006031.6(PCNT):c.8895G>A (p.Ala2965=) rs572222540 0.00008
NM_006059.4(LAMC3):c.4068G>A (p.Ala1356=) rs377618961 0.00008
NM_006261.5(PROP1):c.423C>T (p.Ala141=) rs200977367 0.00008
NM_006516.4(SLC2A1):c.987G>A (p.Glu329=) rs201989024 0.00008
NM_006662.3(SRCAP):c.4105A>G (p.Thr1369Ala) rs751529827 0.00008
NM_007126.5(VCP):c.1194+3G>A rs183223259 0.00008
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys) rs749383532 0.00008
NM_014780.5(CUL7):c.4482C>T (p.Ser1494=) rs760462179 0.00008
NM_015102.5(NPHP4):c.1923C>T (p.Asn641=) rs372430727 0.00008
NM_015102.5(NPHP4):c.2807C>T (p.Thr936Met) rs201074950 0.00008
NM_015102.5(NPHP4):c.2952G>A (p.Thr984=) rs375493384 0.00008
NM_015702.3(MMADHC):c.600C>T (p.Leu200=) rs754142876 0.00008
NM_016203.4(PRKAG2):c.1304A>G (p.Asn435Ser) rs200589374 0.00008
NM_017780.4(CHD7):c.2194C>G (p.Pro732Ala) rs200277422 0.00008
NM_017780.4(CHD7):c.5439C>T (p.Pro1813=) rs373869399 0.00008
NM_018668.5(VPS33B):c.177+5T>A rs747146575 0.00008
NM_018941.4(CLN8):c.522C>T (p.Cys174=) rs148417620 0.00008
NM_020223.4(FAM20C):c.174C>A (p.Pro58=) rs567930512 0.00008
NM_020779.4(WDR35):c.2109T>G (p.Thr703=) rs201822027 0.00008
NM_020975.6(RET):c.2611G>A (p.Val871Ile) rs145170911 0.00008
NM_021167.5(GATAD1):c.558G>A (p.Thr186=) rs141932124 0.00008
NM_022437.3(ABCG8):c.1200G>A (p.Thr400=) rs369131115 0.00008
NM_022437.3(ABCG8):c.1650G>A (p.Ala550=) rs145754381 0.00008
NM_022437.3(ABCG8):c.1715T>C (p.Leu572Pro) rs769576789 0.00008
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter) rs137852989 0.00008
NM_022437.3(ABCG8):c.62C>T (p.Ser21Leu) rs144411000 0.00008
NM_022437.3(ABCG8):c.694+5G>C rs557890655 0.00008
NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val) rs398124386 0.00008
NM_024301.5(FKRP):c.54T>A (p.Leu18=) rs565563742 0.00008
NM_024408.4(NOTCH2):c.1315G>A (p.Ala439Thr) rs199565938 0.00008
NM_025074.7(FRAS1):c.1503C>T (p.Asp501=) rs370655417 0.00008
NM_025193.4(HSD3B7):c.558G>A (p.Thr186=) rs760192112 0.00008
NM_032119.4(ADGRV1):c.17342A>G (p.Gln5781Arg) rs369717492 0.00008
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys) rs150305490 0.00008
NM_058246.4(DNAJB6):c.342C>A (p.Phe114Leu) rs373354100 0.00008
NM_058246.4(DNAJB6):c.974A>C (p.Asn325Thr) rs375911119 0.00008
NM_080680.3(COL11A2):c.2300A>G (p.Glu767Gly) rs775641112 0.00008
NM_133379.5(TTN):c.11809A>C (p.Lys3937Gln) rs562658562 0.00008
NM_133379.5(TTN):c.13799A>C (p.Glu4600Ala) rs200760091 0.00008
NM_138691.3(TMC1):c.1622T>C (p.Ile541Thr) rs201955337 0.00008
NM_138694.4(PKHD1):c.11836T>C (p.Leu3946=) rs35403035 0.00008
NM_138694.4(PKHD1):c.1833A>C (p.Thr611=) rs142922408 0.00008
NM_138694.4(PKHD1):c.708-5C>T rs371844893 0.00008
NM_138694.4(PKHD1):c.880+5C>T rs759601015 0.00008
NM_139058.3(ARX):c.1269C>T (p.His423=) rs794727656 0.00008
NM_144596.4(TTC8):c.267C>A (p.Arg89=) rs200113889 0.00008
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_173477.5(USH1G):c.491G>C (p.Arg164Pro) rs144633924 0.00008
NM_182961.4(SYNE1):c.19554C>T (p.Pro6518=) rs780644969 0.00008
NM_182961.4(SYNE1):c.25786A>G (p.Met8596Val) rs746864807 0.00008
NM_182961.4(SYNE1):c.5488T>C (p.Leu1830=) rs118022241 0.00008
NM_194248.3(OTOF):c.843C>T (p.Asp281=) rs368728682 0.00008
NM_201384.3(PLEC):c.1506G>C (p.Gln502His) rs571497788 0.00008
NM_201384.3(PLEC):c.1650C>T (p.Ser550=) rs541271992 0.00008
NM_201384.3(PLEC):c.2829G>A (p.Ala943=) rs369370495 0.00008
NM_201384.3(PLEC):c.4410G>A (p.Gly1470=) rs782222671 0.00008
NM_201384.3(PLEC):c.5469C>T (p.Asp1823=) rs771101893 0.00008
NM_201384.3(PLEC):c.5879G>A (p.Arg1960His) rs367679924 0.00008
NM_201384.3(PLEC):c.933C>T (p.Phe311=) rs369363676 0.00008
NM_201384.3(PLEC):c.9406G>A (p.Ala3136Thr) rs200680102 0.00008
NM_201384.3(PLEC):c.9749C>T (p.Thr3250Met) rs201349099 0.00008
NM_205850.3(SLC24A5):c.534G>A (p.Ala178=) rs138902406 0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_206933.4(USH2A):c.7168G>A (p.Gly2390Arg) rs376983577 0.00008
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=) rs148607710 0.00007
NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg) rs431825302 0.00007
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912 0.00007
NM_000117.3(EMD):c.12C>T (p.Tyr4=) rs782011714 0.00007
NM_000117.3(EMD):c.400-9C>T rs782061626 0.00007
NM_000141.5(FGFR2):c.2124C>T (p.Pro708=) rs140813163 0.00007
NM_000152.5(GAA):c.2157G>A (p.Ala719=) rs201523530 0.00007
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser) rs375690568 0.00007
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile) rs730881787 0.00007
NM_000232.5(SGCB):c.31C>T (p.Gln11Ter) rs752492870 0.00007
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000257.4(MYH7):c.114C>T (p.Phe38=) rs146210693 0.00007
NM_000260.4(MYO7A):c.5480+10G>A rs768513428 0.00007
NM_000283.4(PDE6B):c.1258-10T>A rs727504074 0.00007
NM_000297.4(PKD2):c.1549-4T>C rs374450718 0.00007
NM_000337.6(SGCD):c.402T>C (p.Ala134=) rs190935424 0.00007
NM_000360.4(TH):c.645C>T (p.His215=) rs768037080 0.00007
NM_000362.5(TIMP3):c.321C>T (p.Arg107=) rs145553035 0.00007
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=) rs200200869 0.00007
NM_000383.4(AIRE):c.564C>G (p.Val188=) rs201650973 0.00007
NM_000392.5(ABCC2):c.3379G>A (p.Val1127Ile) rs370049107 0.00007
NM_000392.5(ABCC2):c.99G>A (p.Val33=) rs376241522 0.00007
NM_000435.3(NOTCH3):c.1469G>C (p.Gly490Ala) rs374248747 0.00007
NM_000443.4(ABCB4):c.524C>T (p.Thr175Met) rs746166913 0.00007
NM_000452.3(SLC10A2):c.870G>A (p.Pro290=) rs370310605 0.00007
NM_000455.5(STK11):c.357C>T (p.Asn119=) rs372511774 0.00007
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301 0.00007
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240 0.00007
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp) rs193922497 0.00007
NM_000540.3(RYR1):c.10032C>T (p.Pro3344=) rs376687300 0.00007
NM_000540.3(RYR1):c.12847G>A (p.Glu4283Lys) rs794728692 0.00007
NM_000540.3(RYR1):c.5637C>T (p.Asp1879=) rs143418190 0.00007
NM_000541.5(SAG):c.357G>A (p.Thr119=) rs757487948 0.00007
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu) rs137854065 0.00007
NM_000548.5(TSC2):c.619G>A (p.Val207Ile) rs139929314 0.00007
NM_000601.6(HGF):c.1814C>T (p.Thr605Ile) rs147075806 0.00007
NM_000601.6(HGF):c.1832G>C (p.Ser611Thr) rs141774517 0.00007
NM_000744.7(CHRNA4):c.1494C>T (p.Ala498=) rs137860047 0.00007
NM_000780.4(CYP7A1):c.1215+8C>T rs368417648 0.00007
NM_001032221.6(STXBP1):c.1404C>A (p.Ile468=) rs777499631 0.00007
NM_001077365.2(POMT1):c.1746C>T (p.Ser582=) rs376373313 0.00007
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=) rs142540289 0.00007
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) rs398123617 0.00007
NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His) rs727503930 0.00007
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) rs192609440 0.00007
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys) rs143876280 0.00007
NM_001110792.2(MECP2):c.1197C>T (p.Pro399=) rs61750246 0.00007
NM_001111125.3(IQSEC2):c.1711G>A (p.Gly571Ser) rs797044752 0.00007
NM_001111125.3(IQSEC2):c.684C>T (p.Ser228=) rs781940286 0.00007
NM_001127222.2(CACNA1A):c.5868C>T (p.Tyr1956=) rs371972266 0.00007
NM_001130823.3(DNMT1):c.327C>T (p.Asn109=) rs144685297 0.00007
NM_001130987.2(DYSF):c.1281C>T (p.Asp427=) rs147244033 0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_001142864.4(PIEZO1):c.7381G>A (p.Glu2461Lys) rs371391349 0.00007
NM_001193315.2(VIPAS39):c.78C>T (p.Asp26=) rs112217896 0.00007
NM_001267550.2(TTN):c.104298T>C (p.Ala34766=) rs751788327 0.00007
NM_001267550.2(TTN):c.104943A>G (p.Glu34981=) rs372312805 0.00007
NM_001267550.2(TTN):c.14302G>A (p.Gly4768Ser) rs727503652 0.00007
NM_001267550.2(TTN):c.25853G>A (p.Gly8618Glu) rs369947439 0.00007
NM_001267550.2(TTN):c.27193T>C (p.Cys9065Arg) rs201229221 0.00007
NM_001267550.2(TTN):c.33340+5A>C rs373367032 0.00007
NM_001267550.2(TTN):c.40502G>A (p.Arg13501His) rs571348685 0.00007
NM_001267550.2(TTN):c.52890C>T (p.Thr17630=) rs374228930 0.00007
NM_001267550.2(TTN):c.53142T>C (p.Asp17714=) rs373316165 0.00007
NM_001267550.2(TTN):c.53807G>A (p.Arg17936His) rs727503604 0.00007
NM_001267550.2(TTN):c.54105G>A (p.Ala18035=) rs371155050 0.00007
NM_001267550.2(TTN):c.56019T>C (p.Thr18673=) rs183047238 0.00007
NM_001267550.2(TTN):c.56533A>C (p.Thr18845Pro) rs375000725 0.00007
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr) rs377000174 0.00007
NM_001267550.2(TTN):c.69660A>G (p.Ala23220=) rs371996901 0.00007
NM_001267550.2(TTN):c.70172T>C (p.Ile23391Thr) rs375202101 0.00007
NM_001267550.2(TTN):c.72331G>C (p.Ala24111Pro) rs369671334 0.00007
NM_001267550.2(TTN):c.72824A>T (p.Lys24275Ile) rs199860952 0.00007
NM_001267550.2(TTN):c.73994C>T (p.Thr24665Met) rs144398602 0.00007
NM_001267550.2(TTN):c.77043T>C (p.Tyr25681=) rs370810609 0.00007
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=) rs375398118 0.00007
NM_001267550.2(TTN):c.96883G>A (p.Val32295Met) rs199532781 0.00007
NM_001267550.2(TTN):c.98243G>A (p.Arg32748His) rs397517775 0.00007
NM_001353108.3(CEP63):c.31C>T (p.Arg11Ter) rs763001827 0.00007
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862 0.00007
NM_001360.3(DHCR7):c.840C>T (p.Tyr280=) rs148468879 0.00007
NM_001360.3(DHCR7):c.855C>T (p.Phe285=) rs781026169 0.00007
NM_001367624.2(ZNF469):c.4829G>A (p.Arg1610His) rs567038987 0.00007
NM_001367721.1(CASK):c.1669-8C>G rs201327474 0.00007
NM_001374385.1(ATP8B1):c.2904C>T (p.Tyr968=) rs376358532 0.00007
NM_001378615.1(CC2D2A):c.3652C>A (p.Arg1218=) rs375278294 0.00007
NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr) rs146843542 0.00007
NM_001378615.1(CC2D2A):c.4512A>G (p.Leu1504=) rs762143074 0.00007
NM_001844.5(COL2A1):c.4095T>C (p.Asn1365=) rs367625071 0.00007
NM_001849.4(COL6A2):c.3018G>A (p.Ala1006=) rs61735832 0.00007
NM_001849.4(COL6A2):c.981C>T (p.Asn327=) rs768836349 0.00007
NM_001927.4(DES):c.193G>A (p.Gly65Ser) rs397516692 0.00007
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala) rs191300661 0.00007
NM_001966.4(EHHADH):c.713A>T (p.Gln238Leu) rs200753408 0.00007
NM_002335.4(LRP5):c.996C>T (p.Asn332=) rs956302502 0.00007
NM_002473.6(MYH9):c.5151-4G>A rs368125656 0.00007
NM_002691.4(POLD1):c.1503C>T (p.Asn501=) rs371647100 0.00007
NM_002693.3(POLG):c.2636A>G (p.Gln879Arg) rs368587966 0.00007
NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp) rs369544574 0.00007
NM_002906.4(RDX):c.777A>G (p.Pro259=) rs142773831 0.00007
NM_002968.3(SALL1):c.3270C>T (p.Asn1090=) rs143637930 0.00007
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819 0.00007
NM_003392.7(WNT5A):c.819G>A (p.Ala273=) rs200583587 0.00007
NM_003482.4(KMT2D):c.10966C>T (p.Arg3656Cys) rs201283589 0.00007
NM_003482.4(KMT2D):c.1112+19C>T rs398123703 0.00007
NM_003482.4(KMT2D):c.2646G>A (p.Leu882=) rs376227770 0.00007
NM_003482.4(KMT2D):c.7829T>C (p.Leu2610Pro) rs200998047 0.00007
NM_003491.4(NAA10):c.564G>A (p.Pro188=) rs150971216 0.00007
NM_003630.3(PEX3):c.473C>G (p.Pro158Arg) rs199781957 0.00007
NM_004006.3(DMD):c.10846A>G (p.Thr3616Ala) rs368996545 0.00007
NM_004006.3(DMD):c.1704+3G>A rs773123973 0.00007
NM_004006.3(DMD):c.2988A>G (p.Leu996=) rs148835707 0.00007
NM_004006.3(DMD):c.3450G>A (p.Glu1150=) rs142967431 0.00007
NM_004006.3(DMD):c.4721G>A (p.Arg1574His) rs755206033 0.00007
NM_004006.3(DMD):c.4862T>C (p.Ile1621Thr) rs377412251 0.00007
NM_004006.3(DMD):c.863G>C (p.Arg288Thr) rs767304770 0.00007
NM_004006.3(DMD):c.9093C>T (p.Val3031=) rs72466563 0.00007
NM_004006.3(DMD):c.9325G>T (p.Ala3109Ser) rs201718067 0.00007
NM_004187.5(KDM5C):c.4304G>A (p.Arg1435His) rs782413552 0.00007
NM_004281.4(BAG3):c.892G>A (p.Val298Met) rs150048651 0.00007
NM_004369.4(COL6A3):c.1977C>T (p.Arg659=) rs141280228 0.00007
NM_004380.3(CREBBP):c.1732C>T (p.Pro578Ser) rs148023511 0.00007
NM_004380.3(CREBBP):c.3982+10G>A rs370093745 0.00007
NM_004385.5(VCAN):c.9454C>G (p.Leu3152Val) rs183984308 0.00007
NM_004393.6(DAG1):c.183T>C (p.Val61=) rs775928044 0.00007
NM_004463.3(FGD1):c.440G>A (p.Arg147His) rs200707592 0.00007
NM_004560.4(ROR2):c.1448G>A (p.Arg483Gln) rs767474960 0.00007
NM_004560.4(ROR2):c.2628G>A (p.Thr876=) rs369201767 0.00007
NM_004565.3(PEX14):c.1013A>G (p.Asp338Gly) rs201120958 0.00007
NM_004817.4(TJP2):c.2034C>T (p.Asn678=) rs373160031 0.00007
NM_004817.4(TJP2):c.212C>T (p.Pro71Leu) rs142847960 0.00007
NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter) rs200737038 0.00007
NM_005529.7(HSPG2):c.13098C>T (p.Pro4366=) rs759562639 0.00007
NM_005559.4(LAMA1):c.3256G>A (p.Asp1086Asn) rs201831309 0.00007
NM_006005.3(WFS1):c.726C>T (p.Ile242=) rs71524381 0.00007
NM_006019.4(TCIRG1):c.1195C>T (p.Leu399=) rs151180675 0.00007
NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=) rs138527421 0.00007
NM_006031.6(PCNT):c.3885T>C (p.Phe1295=) rs755298136 0.00007
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=) rs147319894 0.00007
NM_006662.3(SRCAP):c.2892G>A (p.Leu964=) rs556745550 0.00007
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter) rs200667343 0.00007
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_012210.4(TRIM32):c.238C>T (p.Leu80=) rs760820148 0.00007
NM_014244.5(ADAMTS2):c.260G>T (p.Arg87Leu) rs150047440 0.00007
NM_014780.5(CUL7):c.2603A>G (p.Asn868Ser) rs149360738 0.00007
NM_015102.5(NPHP4):c.2902G>A (p.Ala968Thr) rs375090704 0.00007
NM_015884.4(MBTPS2):c.706A>G (p.Ile236Val) rs369520528 0.00007
NM_017534.6(MYH2):c.3384C>T (p.Ile1128=) rs139130605 0.00007
NM_017617.5(NOTCH1):c.3468C>T (p.Asn1156=) rs199793164 0.00007
NM_017777.4(MKS1):c.468C>T (p.Val156=) rs199684837 0.00007
NM_017780.4(CHD7):c.331C>T (p.Pro111Ser) rs147164392 0.00007
NM_018451.5(CPAP):c.3663G>A (p.Pro1221=) rs200291056 0.00007
NM_018965.4(TREM2):c.407G>A (p.Arg136Gln) rs149622783 0.00007
NM_020745.4(AARS2):c.761G>C (p.Gly254Ala) rs199919912 0.00007
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) rs181611778 0.00007
NM_022124.6(CDH23):c.996G>A (p.Thr332=) rs727504715 0.00007
NM_022437.3(ABCG8):c.351G>A (p.Val117=) rs41281459 0.00007
NM_022437.3(ABCG8):c.450C>T (p.His150=) rs200013237 0.00007
NM_024757.5(EHMT1):c.2595C>T (p.Asp865=) rs780742937 0.00007
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736 0.00007
NM_025193.4(HSD3B7):c.1047G>C (p.Ser349=) rs746926891 0.00007
NM_030665.4(RAI1):c.1499C>T (p.Pro500Leu) rs775231187 0.00007
NM_032119.4(ADGRV1):c.10342G>A (p.Val3448Met) rs199715642 0.00007
NM_032119.4(ADGRV1):c.1374T>A (p.Phe458Leu) rs373868639 0.00007
NM_032119.4(ADGRV1):c.2991T>C (p.Ile997=) rs570773279 0.00007
NM_032119.4(ADGRV1):c.6684T>A (p.Ser2228=) rs373667458 0.00007
NM_053025.4(MYLK):c.2120A>G (p.Gln707Arg) rs201615936 0.00007
NM_054012.4(ASS1):c.805G>A (p.Val269Met) rs370595480 0.00007
NM_080605.4(B3GALT6):c.753G>A (p.Pro251=) rs370328225 0.00007
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=) rs147576338 0.00007
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=) rs142855690 0.00007
NM_145200.5(CABP4):c.579G>A (p.Leu193=) rs139392451 0.00007
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) rs267607606 0.00007
NM_170707.4(LMNA):c.1530C>T (p.Thr510=) rs138098342 0.00007
NM_181303.2(NLGN3):c.282G>A (p.Ser94=) rs143817848 0.00007
NM_182914.3(SYNE2):c.14486G>A (p.Cys4829Tyr) rs200997641 0.00007
NM_182914.3(SYNE2):c.3326G>A (p.Ser1109Asn) rs150464227 0.00007
NM_182961.4(SYNE1):c.15175C>T (p.Leu5059=) rs763930147 0.00007
NM_182961.4(SYNE1):c.17347-6C>T rs201692248 0.00007
NM_182961.4(SYNE1):c.18213G>A (p.Lys6071=) rs942245024 0.00007
NM_182961.4(SYNE1):c.20200-3T>C rs770710698 0.00007
NM_182961.4(SYNE1):c.22038A>G (p.Ser7346=) rs201392317 0.00007
NM_182961.4(SYNE1):c.24348G>A (p.Ala8116=) rs371204427 0.00007
NM_182961.4(SYNE1):c.2991G>A (p.Leu997=) rs1014746277 0.00007
NM_182961.4(SYNE1):c.3934G>A (p.Glu1312Lys) rs200276242 0.00007
NM_182961.4(SYNE1):c.4377C>T (p.Ser1459=) rs146567226 0.00007
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys) rs553968087 0.00007
NM_201384.3(PLEC):c.12255C>T (p.Asp4085=) rs782193445 0.00007
NM_201384.3(PLEC):c.2178+10G>A rs781817693 0.00007
NM_201384.3(PLEC):c.2978G>A (p.Arg993Gln) rs534045685 0.00007
NM_201384.3(PLEC):c.6222C>T (p.Ser2074=) rs370347438 0.00007
NM_201384.3(PLEC):c.8481C>T (p.Asp2827=) rs377660488 0.00007
NM_201384.3(PLEC):c.8617G>A (p.Glu2873Lys) rs377748878 0.00007
NM_201384.3(PLEC):c.9896G>A (p.Arg3299Gln) rs368318946 0.00007
NM_206933.4(USH2A):c.3861A>G (p.Lys1287=) rs750789180 0.00007
NM_207346.3(TSEN54):c.468+8C>T rs117456384 0.00007
NM_000023.4(SGCA):c.62C>T (p.Thr21Ile) rs199804735 0.00006
NM_000035.4(ALDOB):c.1000-3T>C rs369238799 0.00006
NM_000038.6(APC):c.1005A>G (p.Leu335=) rs3797704 0.00006
NM_000038.6(APC):c.2250A>T (p.Pro750=) rs376526724 0.00006
NM_000051.4(ATM):c.5352C>T (p.Asn1784=) rs140641762 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=) rs41293473 0.00006
NM_000059.4(BRCA2):c.1021T>C (p.Cys341Arg) rs55833327 0.00006
NM_000070.3(CAPN3):c.1017G>A (p.Thr339=) rs141934227 0.00006
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556 0.00006
NM_000070.3(CAPN3):c.1263G>A (p.Leu421=) rs372450879 0.00006
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly) rs201736037 0.00006
NM_000081.4(LYST):c.7862T>C (p.Met2621Thr) rs368500877 0.00006
NM_000088.4(COL1A1):c.2508C>T (p.Gly836=) rs200620805 0.00006
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His) rs377278762 0.00006
NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys) rs761079177 0.00006
NM_000102.4(CYP17A1):c.1524C>T (p.Thr508=) rs145067399 0.00006
NM_000110.4(DPYD):c.1774C>T (p.Arg592Trp) rs59086055 0.00006
NM_000117.3(EMD):c.454C>T (p.Arg152Cys) rs376456050 0.00006
NM_000128.4(F11):c.1288G>A (p.Ala430Thr) rs753909969 0.00006
NM_000138.5(FBN1):c.3464-6C>T rs375596551 0.00006
NM_000138.5(FBN1):c.7902C>T (p.Pro2634=) rs138621371 0.00006
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) rs144995231 0.00006
NM_000152.5(GAA):c.1143C>T (p.Thr381=) rs111832449 0.00006
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858 0.00006
NM_000152.5(GAA):c.1725C>T (p.Tyr575=) rs112517802 0.00006
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209 0.00006
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246 0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936 0.00006
NM_000156.6(GAMT):c.670G>A (p.Ala224Thr) rs141471799 0.00006
NM_000157.4(GBA1):c.1604G>A (p.Arg535His) rs75822236 0.00006
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg) rs372983141 0.00006
NM_000208.4(INSR):c.3042C>T (p.Asp1014=) rs369686949 0.00006
NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu) rs201785359 0.00006
NM_000214.3(JAG1):c.204C>T (p.Arg68=) rs565407240 0.00006
NM_000214.3(JAG1):c.2298T>C (p.Phe766=) rs771544217 0.00006
NM_000214.3(JAG1):c.2877G>A (p.Ala959=) rs142085300 0.00006
NM_000214.3(JAG1):c.3153C>T (p.Ala1051=) rs754593633 0.00006
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met) rs148373907 0.00006
NM_000235.4(LIPA):c.618C>A (p.Val206=) rs763651849 0.00006
NM_000249.4(MLH1):c.453G>A (p.Thr151=) rs369521379 0.00006
NM_000251.3(MSH2):c.2400A>G (p.Leu800=) rs201298777 0.00006
NM_000257.4(MYH7):c.1000-7C>T rs200129563 0.00006
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=) rs765895405 0.00006
NM_000257.4(MYH7):c.714C>T (p.Asn238=) rs202141819 0.00006
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000271.5(NPC1):c.1542G>A (p.Leu514=) rs371076898 0.00006
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254 0.00006
NM_000275.3(OCA2):c.632C>T (p.Pro211Leu) rs190612616 0.00006
NM_000283.4(PDE6B):c.811G>A (p.Glu271Lys) rs374156343 0.00006
NM_000295.5(SERPINA1):c.1134G>A (p.Glu378=) rs148362959 0.00006
NM_000310.4(PPT1):c.*6G>A rs113082671 0.00006
NM_000314.8(PTEN):c.720C>T (p.Tyr240=) rs190070312 0.00006
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=) rs200868190 0.00006
NM_000337.6(SGCD):c.69C>T (p.Tyr23=) rs397517923 0.00006
NM_000350.3(ABCA4):c.1267C>T (p.His423Tyr) rs138044729 0.00006
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) rs62642574 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys) rs200563930 0.00006
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406 0.00006
NM_000390.4(CHM):c.957A>G (p.Thr319=) rs373242750 0.00006
NM_000392.5(ABCC2):c.3576C>G (p.Thr1192=) rs146575217 0.00006
NM_000392.5(ABCC2):c.3987+10G>A rs373365135 0.00006
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val) rs28943590 0.00006
NM_000441.2(SLC26A4):c.1233C>T (p.Ala411=) rs766572560 0.00006
NM_000441.2(SLC26A4):c.2283A>G (p.Thr761=) rs202033028 0.00006
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) rs372685632 0.00006
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=) rs561612231 0.00006
NM_000443.4(ABCB4):c.3411G>C (p.Arg1137=) rs771437431 0.00006
NM_000452.3(SLC10A2):c.261G>A (p.Ser87=) rs200682819 0.00006
NM_000458.4(HNF1B):c.313G>A (p.Glu105Lys) rs199572129 0.00006
NM_000458.4(HNF1B):c.36C>T (p.Leu12=) rs749370057 0.00006
NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu) rs36076514 0.00006
NM_000466.3(PEX1):c.1284C>T (p.Ala428=) rs145153467 0.00006
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp) rs374167385 0.00006
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014 0.00006
NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr) rs149249195 0.00006
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu) rs61752457 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_000492.4(CFTR):c.2769C>T (p.Ala923=) rs1800108 0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000492.4(CFTR):c.3964-16T>C rs199672530 0.00006
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=) rs761669740 0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 0.00006
NM_000492.4(CFTR):c.663G>A (p.Ala221=) rs758147990 0.00006
NM_000540.3(RYR1):c.13350G>A (p.Gly4450=) rs748743312 0.00006
NM_000540.3(RYR1):c.152C>A (p.Thr51Asn) rs193922749 0.00006
NM_000540.3(RYR1):c.4038C>A (p.Asn1346Lys) rs777049924 0.00006
NM_000540.3(RYR1):c.6640G>A (p.Val2214Ile) rs193922795 0.00006
NM_000541.5(SAG):c.468C>T (p.Phe156=) rs375593027 0.00006
NM_000543.5(SMPD1):c.373C>T (p.Leu125=) rs370048730 0.00006
NM_000545.8(HNF1A):c.1405C>T (p.His469Tyr) rs201811844 0.00006
NM_000548.5(TSC2):c.4795G>A (p.Val1599Met) rs772687631 0.00006
NM_000550.3(TYRP1):c.415G>A (p.Glu139Lys) rs201789348 0.00006
NM_000642.3(AGL):c.2607A>G (p.Gln869=) rs747817359 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_000709.4(BCKDHA):c.978C>T (p.Ile326=) rs398123514 0.00006
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) rs373124557 0.00006
NM_000744.7(CHRNA4):c.1454G>A (p.Arg485Gln) rs755416498 0.00006
NM_000784.4(CYP27A1):c.420C>T (p.His140=) rs139415581 0.00006
NM_000823.4(GHRHR):c.138G>A (p.Glu46=) rs375206873 0.00006
NM_000875.5(IGF1R):c.1692C>T (p.Pro564=) rs9282723 0.00006
NM_001029883.3(PCARE):c.1215C>T (p.Gly405=) rs754808908 0.00006
NM_001032221.6(STXBP1):c.1320C>T (p.Ile440=) rs370249358 0.00006
NM_001032221.6(STXBP1):c.888C>T (p.Ile296=) rs201302013 0.00006
NM_001033855.3(DCLRE1C):c.1894G>A (p.Glu632Lys) rs61757205 0.00006
NM_001040142.2(SCN2A):c.3456C>T (p.Ala1152=) rs144325450 0.00006
NM_001077365.2(POMT1):c.1486+9G>A rs547775333 0.00006
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu) rs757903559 0.00006
NM_001077365.2(POMT1):c.2031C>T (p.Ser677=) rs778418119 0.00006
NM_001077446.4(TSEN34):c.-8G>A rs573039542 0.00006
NM_001083962.2(TCF4):c.1245T>C (p.His415=) rs148909575 0.00006
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln) rs773739293 0.00006
NM_001110556.2(FLNA):c.1030G>A (p.Val344Ile) rs782007408 0.00006
NM_001110556.2(FLNA):c.5448G>A (p.Ala1816=) rs782806731 0.00006
NM_001110792.2(MECP2):c.1107C>T (p.Ser369=) rs61750236 0.00006
NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser) rs61753000 0.00006
NM_001110792.2(MECP2):c.737C>G (p.Ala246Gly) rs138211345 0.00006
NM_001110792.2(MECP2):c.90C>G (p.Leu30=) rs372500343 0.00006
NM_001126121.2(SLC25A19):c.135T>A (p.Leu45=) rs373190423 0.00006
NM_001127222.2(CACNA1A):c.2676C>T (p.Ser892=) rs780515850 0.00006
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser) rs751947412 0.00006
NM_001127644.2(GABRA1):c.704-10T>C rs188133840 0.00006
NM_001127649.3(PEX26):c.441C>T (p.Asp147=) rs770611373 0.00006
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met) rs199422213 0.00006
NM_001128228.3(TPRN):c.1726-7C>T rs377461469 0.00006
NM_001130823.3(DNMT1):c.3806+6C>T rs371779379 0.00006
NM_001130987.2(DYSF):c.378G>A (p.Pro126=) rs377056951 0.00006
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=) rs200949030 0.00006
NM_001164508.2(NEB):c.10233T>C (p.Ala3411=) rs727504033 0.00006
NM_001165963.4(SCN1A):c.1582A>T (p.Ser528Cys) rs372372558 0.00006
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458 0.00006
NM_001165963.4(SCN1A):c.3732G>A (p.Gln1244=) rs369688121 0.00006
NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His) rs368834365 0.00006
NM_001170629.2(CHD8):c.6473G>A (p.Arg2158His) rs745375504 0.00006
NM_001173990.3(TMEM216):c.123A>T (p.Ile41=) rs900061092 0.00006
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) rs200289511 0.00006
NM_001199107.2(TBC1D24):c.1525+6C>T rs758013935 0.00006
NM_001256317.3(TMPRSS3):c.915C>T (p.Ile305=) rs774844255 0.00006
NM_001267550.2(TTN):c.102540T>C (p.Ser34180=) rs368844570 0.00006
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln) rs149391616 0.00006
NM_001267550.2(TTN):c.103636C>T (p.Arg34546Cys) rs777626473 0.00006
NM_001267550.2(TTN):c.103909C>T (p.Arg34637Trp) rs200716930 0.00006
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr) rs727504476 0.00006
NM_001267550.2(TTN):c.105090C>T (p.Asp35030=) rs72629789 0.00006
NM_001267550.2(TTN):c.106044C>A (p.Asn35348Lys) rs145560044 0.00006
NM_001267550.2(TTN):c.106604T>C (p.Val35535Ala) rs368179478 0.00006
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln) rs199531140 0.00006
NM_001267550.2(TTN):c.15185G>A (p.Ser5062Asn) rs371687650 0.00006
NM_001267550.2(TTN):c.17686G>A (p.Glu5896Lys) rs561557554 0.00006
NM_001267550.2(TTN):c.19190C>T (p.Thr6397Met) rs199564845 0.00006
NM_001267550.2(TTN):c.19541G>T (p.Trp6514Leu) rs760007747 0.00006
NM_001267550.2(TTN):c.21521C>T (p.Ala7174Val) rs764832849 0.00006
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=) rs202102237 0.00006
NM_001267550.2(TTN):c.2573C>T (p.Ser858Leu) rs772294126 0.00006
NM_001267550.2(TTN):c.25942A>G (p.Lys8648Glu) rs188234466 0.00006
NM_001267550.2(TTN):c.26056G>A (p.Gly8686Ser) rs370578197 0.00006
NM_001267550.2(TTN):c.26281G>A (p.Gly8761Ser) rs369385294 0.00006
NM_001267550.2(TTN):c.27631T>C (p.Leu9211=) rs563954136 0.00006
NM_001267550.2(TTN):c.27652G>T (p.Val9218Phe) rs746558975 0.00006
NM_001267550.2(TTN):c.29577A>G (p.Gln9859=) rs368780181 0.00006
NM_001267550.2(TTN):c.31441A>G (p.Thr10481Ala) rs370208651 0.00006
NM_001267550.2(TTN):c.39885G>A (p.Pro13295=) rs756518824 0.00006
NM_001267550.2(TTN):c.41812A>G (p.Met13938Val) rs201725483 0.00006
NM_001267550.2(TTN):c.4247G>A (p.Arg1416His) rs750278602 0.00006
NM_001267550.2(TTN):c.42509T>C (p.Met14170Thr) rs369623392 0.00006
NM_001267550.2(TTN):c.43986T>G (p.Asp14662Glu) rs201390600 0.00006
NM_001267550.2(TTN):c.47598A>G (p.Leu15866=) rs879099244 0.00006
NM_001267550.2(TTN):c.48589C>T (p.Arg16197Cys) rs748917057 0.00006
NM_001267550.2(TTN):c.49406T>A (p.Leu16469His) rs72677245 0.00006
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=) rs72677247 0.00006
NM_001267550.2(TTN):c.5073A>T (p.Glu1691Asp) rs770902874 0.00006
NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val) rs373305248 0.00006
NM_001267550.2(TTN):c.53002+10G>A rs370352450 0.00006
NM_001267550.2(TTN):c.53295T>C (p.Pro17765=) rs771792080 0.00006
NM_001267550.2(TTN):c.53507G>A (p.Arg17836His) rs373526624 0.00006
NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr) rs72646819 0.00006
NM_001267550.2(TTN):c.55784C>G (p.Thr18595Arg) rs770499179 0.00006
NM_001267550.2(TTN):c.55809G>A (p.Pro18603=) rs750472100 0.00006
NM_001267550.2(TTN):c.56943G>A (p.Ala18981=) rs370998052 0.00006
NM_001267550.2(TTN):c.5740G>A (p.Ala1914Thr) rs118161093 0.00006
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val) rs397517630 0.00006
NM_001267550.2(TTN):c.60654G>A (p.Thr20218=) rs776141268 0.00006
NM_001267550.2(TTN):c.61592G>A (p.Arg20531His) rs370887455 0.00006
NM_001267550.2(TTN):c.61696G>A (p.Val20566Ile) rs764777213 0.00006
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_001267550.2(TTN):c.62844T>G (p.Pro20948=) rs770335539 0.00006
NM_001267550.2(TTN):c.64175G>A (p.Arg21392His) rs777176324 0.00006
NM_001267550.2(TTN):c.64673-5T>C rs530496528 0.00006
NM_001267550.2(TTN):c.64734C>T (p.Ser21578=) rs773855604 0.00006
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met) rs201284459 0.00006
NM_001267550.2(TTN):c.68208T>A (p.Val22736=) rs727503575 0.00006
NM_001267550.2(TTN):c.71149G>T (p.Asp23717Tyr) rs371818894 0.00006
NM_001267550.2(TTN):c.72992G>A (p.Arg24331His) rs755174224 0.00006
NM_001267550.2(TTN):c.73847G>A (p.Arg24616Gln) rs201694149 0.00006
NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp) rs368914555 0.00006
NM_001267550.2(TTN):c.75099C>T (p.Asp25033=) rs370272814 0.00006
NM_001267550.2(TTN):c.76566_76568dup (p.Arg25523dup) rs772268958 0.00006
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) rs369707906 0.00006
NM_001267550.2(TTN):c.77654T>C (p.Ile25885Thr) rs199514898 0.00006
NM_001267550.2(TTN):c.80720C>A (p.Pro26907Gln) rs375693686 0.00006
NM_001267550.2(TTN):c.80944T>C (p.Phe26982Leu) rs200406978 0.00006
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu) rs190721759 0.00006
NM_001267550.2(TTN):c.86700C>T (p.Asn28900=) rs727504793 0.00006
NM_001267550.2(TTN):c.89520C>T (p.Asp29840=) rs746569192 0.00006
NM_001267550.2(TTN):c.93254C>T (p.Pro31085Leu) rs549841864 0.00006
NM_001267550.2(TTN):c.93444C>T (p.Tyr31148=) rs561739832 0.00006
NM_001267550.2(TTN):c.9639C>T (p.Ser3213=) rs760666570 0.00006
NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn) rs764561909 0.00006
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser) rs202011992 0.00006
NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro) rs184922462 0.00006
NM_001277115.2(DNAH11):c.5622-7C>A rs727503901 0.00006
NM_001278116.2(L1CAM):c.1107C>T (p.Asn369=) rs200768501 0.00006
NM_001292063.2(OTOG):c.6405C>T (p.Thr2135=) rs187255209 0.00006
NM_001330078.2(NRXN1):c.1688T>C (p.Ile563Thr) rs201837579 0.00006
NM_001330078.2(NRXN1):c.2730G>A (p.Lys910=) rs192909520 0.00006
NM_001330260.2(SCN8A):c.3135C>T (p.Ile1045=) rs550579591 0.00006
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln) rs369346315 0.00006
NM_001353921.2(ARHGEF9):c.351G>A (p.Glu117=) rs373866956 0.00006
NM_001358530.2(MOCS1):c.418+1G>A rs141982812 0.00006
NM_001360.3(DHCR7):c.1011C>T (p.Ala337=) rs369382960 0.00006
NM_001360.3(DHCR7):c.522C>T (p.Phe174=) rs140648594 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_001360.3(DHCR7):c.92G>A (p.Arg31His) rs370307688 0.00006
NM_001360.3(DHCR7):c.957G>A (p.Thr319=) rs200157761 0.00006
NM_001365536.1(SCN9A):c.642A>G (p.Arg214=) rs376908183 0.00006
NM_001365951.3(KIF1B):c.2001G>A (p.Leu667=) rs543345616 0.00006
NM_001367721.1(CASK):c.1315-10A>G rs375004542 0.00006
NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys) rs200076785 0.00006
NM_001378615.1(CC2D2A):c.1689C>T (p.His563=) rs755367503 0.00006
NM_001384140.1(PCDH15):c.3936A>G (p.Ala1312=) rs398124433 0.00006
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=) rs533251927 0.00006
NM_001384474.1(LOXHD1):c.4376-2A>G rs886043616 0.00006
NM_001429.4(EP300):c.5957C>T (p.Pro1986Leu) rs144626200 0.00006
NM_001457.4(FLNB):c.1946G>A (p.Arg649Gln) rs145910735 0.00006
NM_001701.4(BAAT):c.761C>T (p.Thr254Met) rs768526453 0.00006
NM_001793.6(CDH3):c.1704G>A (p.Thr568=) rs561193756 0.00006
NM_001844.5(COL2A1):c.3435+18C>T rs375024988 0.00006
NM_001844.5(COL2A1):c.4136G>A (p.Arg1379His) rs754487319 0.00006
NM_001848.3(COL6A1):c.2355C>A (p.Gly785=) rs149910296 0.00006
NM_001848.3(COL6A1):c.2746G>A (p.Val916Ile) rs563043611 0.00006
NM_001848.3(COL6A1):c.357G>A (p.Ala119=) rs747037863 0.00006
NM_001848.3(COL6A1):c.717+4A>G rs762867111 0.00006
NM_001849.4(COL6A2):c.188C>T (p.Thr63Met) rs201094892 0.00006
NM_001849.4(COL6A2):c.2634G>A (p.Ala878=) rs143749884 0.00006
NM_001849.4(COL6A2):c.2707G>A (p.Glu903Lys) rs373611722 0.00006
NM_001851.6(COL9A1):c.635T>C (p.Ile212Thr) rs141776183 0.00006
NM_001854.4(COL11A1):c.3984A>G (p.Gln1328=) rs767276283 0.00006
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779 0.00006
NM_001909.5(CTSD):c.111G>A (p.Ser37=) rs535140505 0.00006
NM_001909.5(CTSD):c.267C>G (p.Pro89=) rs139154882 0.00006
NM_001966.4(EHHADH):c.298G>A (p.Gly100Arg) rs768718791 0.00006
NM_001999.4(FBN2):c.3045C>T (p.Pro1015=) rs371640952 0.00006
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser) rs199910288 0.00006
NM_002047.4(GARS1):c.1857C>T (p.Leu619=) rs183573304 0.00006
NM_002335.4(LRP5):c.4272C>T (p.His1424=) rs145226802 0.00006
NM_002397.5(MEF2C):c.759A>G (p.Pro253=) rs368575766 0.00006
NM_002473.6(MYH9):c.2907C>T (p.Thr969=) rs767461889 0.00006
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=) rs190546350 0.00006
NM_002618.4(PEX13):c.408T>A (p.Ile136=) rs145776973 0.00006
NM_002693.3(POLG):c.129G>A (p.Gln43=) rs570989155 0.00006
NM_002693.3(POLG):c.1545C>T (p.Ile515=) rs537156830 0.00006
NM_002693.3(POLG):c.1743C>T (p.Asp581=) rs140743000 0.00006
NM_002693.3(POLG):c.2601T>C (p.Pro867=) rs201749977 0.00006
NM_002693.3(POLG):c.3216C>G (p.Thr1072=) rs146936870 0.00006
NM_002693.3(POLG):c.3287G>A (p.Arg1096His) rs368435864 0.00006
NM_002693.3(POLG):c.3450C>T (p.Ala1150=) rs774880085 0.00006
NM_002734.5(PRKAR1A):c.798G>A (p.Thr266=) rs201774040 0.00006
NM_002755.4(MAP2K1):c.277G>A (p.Val93Ile) rs151207265 0.00006
NM_002769.5(PRSS1):c.674A>G (p.Lys225Arg) rs541223359 0.00006
NM_002834.5(PTPN11):c.132C>T (p.Ser44=) rs397507502 0.00006
NM_002863.5(PYGL):c.1758G>A (p.Thr586=) rs755485474 0.00006
NM_002968.3(SALL1):c.1715C>T (p.Thr572Met) rs373471563 0.00006
NM_002979.5(SCP2):c.1632C>T (p.Asn544=) rs143534838 0.00006
NM_002979.5(SCP2):c.855A>G (p.Ala285=) rs185811440 0.00006
NM_003049.4(SLC10A1):c.664_665del (p.Leu222fs) rs765246704 0.00006
NM_003073.5(SMARCB1):c.585C>T (p.Ile195=) rs757546528 0.00006
NM_003193.5(TBCE):c.898+5A>T rs182294717 0.00006
NM_003238.6(TGFB2):c.644-4C>T rs11466408 0.00006
NM_003482.4(KMT2D):c.15273G>A (p.Lys5091=) rs398123727 0.00006
NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=) rs143063879 0.00006
NM_003673.4(TCAP):c.132C>T (p.Asp44=) rs397516861 0.00006
NM_003722.5(TP63):c.1083G>A (p.Lys361=) rs148937466 0.00006
NM_003742.4(ABCB11):c.1465C>G (p.Leu489Val) rs944713270 0.00006
NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys) rs201800225 0.00006
NM_003742.4(ABCB11):c.2616C>T (p.Ala872=) rs528640585 0.00006
NM_003742.4(ABCB11):c.3412-7T>C rs757040670 0.00006
NM_003742.4(ABCB11):c.667C>T (p.Arg223Cys) rs199841445 0.00006
NM_003816.3(ADAM9):c.1074T>C (p.Asp358=) rs202060547 0.00006
NM_003839.4(TNFRSF11A):c.1296G>A (p.Pro432=) rs547088539 0.00006
NM_003839.4(TNFRSF11A):c.423C>T (p.His141=) rs763226980 0.00006
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963 0.00006
NM_004006.3(DMD):c.1184G>A (p.Arg395Gln) rs148511512 0.00006
NM_004006.3(DMD):c.3047G>A (p.Arg1016Gln) rs139772014 0.00006
NM_004006.3(DMD):c.3445A>G (p.Lys1149Glu) rs144667422 0.00006
NM_004006.3(DMD):c.501G>T (p.Leu167=) rs150239235 0.00006
NM_004006.3(DMD):c.5599C>G (p.Gln1867Glu) rs144718274 0.00006
NM_004006.3(DMD):c.7051T>C (p.Leu2351=) rs367747168 0.00006
NM_004006.3(DMD):c.7187C>T (p.Thr2396Ile) rs1057519106 0.00006
NM_004172.5(SLC1A3):c.1496G>A (p.Arg499Gln) rs138085358 0.00006
NM_004320.6(ATP2A1):c.2774dup (p.Met925fs) rs398124555 0.00006
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val) rs753966526 0.00006
NM_004369.4(COL6A3):c.2754C>T (p.Tyr918=) rs114492689 0.00006
NM_004369.4(COL6A3):c.3732C>T (p.Ala1244=) rs193265138 0.00006
NM_004369.4(COL6A3):c.4662C>T (p.Asp1554=) rs764225803 0.00006
NM_004369.4(COL6A3):c.4677C>T (p.Phe1559=) rs147215386 0.00006
NM_004369.4(COL6A3):c.6930+4C>T rs375657891 0.00006
NM_004369.4(COL6A3):c.7590G>A (p.Val2530=) rs115591088 0.00006
NM_004369.4(COL6A3):c.7755T>C (p.His2585=) rs145581705 0.00006
NM_004380.3(CREBBP):c.2415G>A (p.Ala805=) rs368664039 0.00006
NM_004380.3(CREBBP):c.5361C>T (p.Asn1787=) rs375462934 0.00006
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg) rs201442000 0.00006
NM_004393.6(DAG1):c.1690C>A (p.Leu564Ile) rs199894361 0.00006
NM_004393.6(DAG1):c.1773C>T (p.Phe591=) rs2229010 0.00006
NM_004393.6(DAG1):c.735G>A (p.Pro245=) rs748164001 0.00006
NM_004393.6(DAG1):c.927C>T (p.Arg309=) rs551679833 0.00006
NM_004560.4(ROR2):c.1756G>A (p.Ala586Thr) rs142386294 0.00006
NM_004560.4(ROR2):c.2445G>A (p.Pro815=) rs202010959 0.00006
NM_004817.4(TJP2):c.2334C>T (p.Thr778=) rs183285809 0.00006
NM_004817.4(TJP2):c.2880+17C>T rs778212657 0.00006
NM_005476.7(GNE):c.1242T>C (p.Leu414=) rs371881711 0.00006
NM_005476.7(GNE):c.1281+6A>T rs201025841 0.00006
NM_005529.7(HSPG2):c.12195G>A (p.Pro4065=) rs573932867 0.00006
NM_005529.7(HSPG2):c.2558+10A>G rs756733330 0.00006
NM_005529.7(HSPG2):c.4928C>A (p.Pro1643His) rs775389963 0.00006
NM_005529.7(HSPG2):c.769C>T (p.Arg257Trp) rs535956121 0.00006
NM_005529.7(HSPG2):c.9291C>T (p.Tyr3097=) rs534949106 0.00006
NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala) rs553805862 0.00006
NM_006005.3(WFS1):c.2181C>T (p.Ile727=) rs140286718 0.00006
NM_006005.3(WFS1):c.977C>T (p.Ala326Val) rs369795224 0.00006
NM_006015.6(ARID1A):c.1715C>T (p.Thr572Met) rs778345898 0.00006
NM_006015.6(ARID1A):c.5246G>A (p.Arg1749Lys) rs370901533 0.00006
NM_006031.6(PCNT):c.1943C>G (p.Pro648Arg) rs752992538 0.00006
NM_006031.6(PCNT):c.405C>T (p.Val135=) rs371917839 0.00006
NM_006031.6(PCNT):c.930C>T (p.His310=) rs778056605 0.00006
NM_006208.3(ENPP1):c.2088C>T (p.Thr696=) rs142835743 0.00006
NM_006432.5(NPC2):c.270T>C (p.Pro90=) rs758503440 0.00006
NM_006486.3(FBLN1):c.1012G>A (p.Val338Met) rs766511464 0.00006
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735 0.00006
NM_006662.3(SRCAP):c.4355C>T (p.Ser1452Leu) rs200175704 0.00006
NM_006790.3(MYOT):c.1335C>T (p.Asn445=) rs769506328 0.00006
NM_006922.4(SCN3A):c.5394A>G (p.Glu1798=) rs746501220 0.00006
NM_006946.4(SPTBN2):c.5593C>T (p.Arg1865Trp) rs755595060 0.00006
NM_007059.4(KPTN):c.394+1G>A rs373139784 0.00006
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe) rs41286294 0.00006
NM_012254.3(SLC27A5):c.1668A>G (p.Arg556=) rs370902216 0.00006
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) rs727504156 0.00006
NM_012470.4(TNPO3):c.2599-6A>G rs374776250 0.00006
NM_013444.4(UBQLN2):c.1420C>G (p.Pro474Ala) rs761503297 0.00006
NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=) rs139949668 0.00006
NM_014141.6(CNTNAP2):c.3111C>T (p.Pro1037=) rs368108883 0.00006
NM_014251.3(SLC25A13):c.790G>A (p.Val264Ile) rs531991442 0.00006
NM_014324.6(AMACR):c.429G>A (p.Pro143=) rs368427062 0.00006
NM_014324.6(AMACR):c.90T>G (p.Arg30=) rs769780647 0.00006
NM_014384.3(ACAD8):c.400G>T (p.Asp134Tyr) rs367857040 0.00006
NM_014780.5(CUL7):c.3747G>A (p.Leu1249=) rs141211365 0.00006
NM_014780.5(CUL7):c.4713C>T (p.Ile1571=) rs368539088 0.00006
NM_014989.7(RIMS1):c.1533G>A (p.Pro511=) rs201473375 0.00006
NM_014989.7(RIMS1):c.4506-5G>A rs201556693 0.00006
NM_015046.7(SETX):c.1880T>C (p.Met627Thr) rs199707503 0.00006
NM_015102.5(NPHP4):c.-8C>T rs375807896 0.00006
NM_015102.5(NPHP4):c.2238C>T (p.Thr746=) rs756449736 0.00006
NM_015102.5(NPHP4):c.3960C>T (p.Leu1320=) rs778306754 0.00006
NM_015158.5(KANK1):c.95T>C (p.Phe32Ser) rs183362306 0.00006
NM_015192.4(PLCB1):c.1188G>A (p.Ala396=) rs202109404 0.00006
NM_015634.4(KIFBP):c.1314T>G (p.Thr438=) rs776013730 0.00006
NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro) rs121912619 0.00006
NM_016239.4(MYO15A):c.6357G>A (p.Ala2119=) rs374951514 0.00006
NM_016247.4(IMPG2):c.1794C>T (p.Asp598=) rs371805004 0.00006
NM_016366.3(CABP2):c.345C>A (p.Thr115=) rs376093439 0.00006
NM_016729.3(FOLR1):c.215A>G (p.Gln72Arg) rs148345688 0.00006
NM_017780.4(CHD7):c.4534-20C>T rs727503866 0.00006
NM_017780.4(CHD7):c.5275A>C (p.Lys1759Gln) rs371988345 0.00006
NM_017780.4(CHD7):c.90G>A (p.Pro30=) rs374464240 0.00006
NM_017780.4(CHD7):c.911T>C (p.Ile304Thr) rs537091457 0.00006
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191 0.00006
NM_018100.4(EFHC1):c.1852-6C>G rs372507832 0.00006
NM_018136.5(ASPM):c.2914T>G (p.Leu972Val) rs552158003 0.00006
NM_018136.5(ASPM):c.4443A>G (p.Leu1481=) rs374040448 0.00006
NM_020184.4(CNNM4):c.1587G>A (p.Lys529=) rs569907931 0.00006
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) rs121908185 0.00006
NM_020451.3(SELENON):c.465G>A (p.Thr155=) rs753774853 0.00006
NM_020822.3(KCNT1):c.3153G>A (p.Ser1051=) rs141802876 0.00006
NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met) rs373041291 0.00006
NM_021939.4(FKBP10):c.1269G>A (p.Gly423=) rs371540139 0.00006
NM_022124.6(CDH23):c.3852G>A (p.Ser1284=) rs372172457 0.00006
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_022124.6(CDH23):c.870C>T (p.Ser290=) rs375292899 0.00006
NM_022356.4(P3H1):c.756C>T (p.Tyr252=) rs770943260 0.00006
NM_022437.3(ABCG8):c.1353C>T (p.Leu451=) rs373560827 0.00006
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln) rs137852990 0.00006
NM_022455.5(NSD1):c.1829A>G (p.Gln610Arg) rs142544192 0.00006
NM_022455.5(NSD1):c.4642-7T>C rs183928380 0.00006
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp) rs144689354 0.00006
NM_024301.5(FKRP):c.1140G>A (p.Gly380=) rs552260353 0.00006
NM_024408.4(NOTCH2):c.3702T>C (p.His1234=) rs376503331 0.00006
NM_024408.4(NOTCH2):c.4312G>A (p.Val1438Ile) rs745861610 0.00006
NM_024408.4(NOTCH2):c.7413G>A (p.Ala2471=) rs771638958 0.00006
NM_024408.4(NOTCH2):c.956A>G (p.Asn319Ser) rs144936899 0.00006
NM_024596.5(MCPH1):c.445G>A (p.Val149Ile) rs201403389 0.00006
NM_024649.5(BBS1):c.858C>T (p.Ile286=) rs746775716 0.00006
NM_024757.5(EHMT1):c.188C>T (p.Ala63Val) rs138292762 0.00006
NM_024757.5(EHMT1):c.2442C>T (p.Ala814=) rs772286870 0.00006
NM_025074.7(FRAS1):c.39G>A (p.Ala13=) rs773457837 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_025265.4(TSEN2):c.870A>G (p.Pro290=) rs542708828 0.00006
NM_030665.4(RAI1):c.1488G>A (p.Pro496=) rs727504116 0.00006
NM_030665.4(RAI1):c.3689C>A (p.Ala1230Glu) rs374187267 0.00006
NM_030665.4(RAI1):c.4711G>A (p.Ala1571Thr) rs779651867 0.00006
NM_030665.4(RAI1):c.5528T>C (p.Phe1843Ser) rs145732429 0.00006
NM_030777.4(SLC2A10):c.1464C>T (p.Leu488=) rs142639587 0.00006
NM_032119.4(ADGRV1):c.12778G>T (p.Val4260Leu) rs773072116 0.00006
NM_032119.4(ADGRV1):c.15987C>T (p.Tyr5329=) rs142097643 0.00006
NM_032119.4(ADGRV1):c.17187C>T (p.Cys5729=) rs371639191 0.00006
NM_032119.4(ADGRV1):c.17920G>T (p.Ala5974Ser) rs397517427 0.00006
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser) rs200058876 0.00006
NM_032119.4(ADGRV1):c.8156-6T>C rs574939589 0.00006
NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=) rs200412477 0.00006
NM_033100.4(CDHR1):c.1471G>A (p.Val491Met) rs138638103 0.00006
NM_033337.3(CAV3):c.39C>T (p.Ile13=) rs200562715 0.00006
NM_058246.4(DNAJB6):c.564C>T (p.Phe188=) rs145897776 0.00006
NM_080680.3(COL11A2):c.3092C>T (p.Pro1031Leu) rs528009333 0.00006
NM_080916.3(DGUOK):c.758A>G (p.Asn253Ser) rs200169027 0.00006
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg) rs199546324 0.00006
NM_138691.3(TMC1):c.1114G>A (p.Val372Met) rs367924428 0.00006
NM_138694.4(PKHD1):c.2091G>A (p.Thr697=) rs147826962 0.00006
NM_138694.4(PKHD1):c.3628+9C>A rs552339299 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_144672.4(OTOA):c.1488+8G>A rs375767505 0.00006
NM_144991.3(TSPEAR):c.1423G>A (p.Gly475Ser) rs782056388 0.00006
NM_144991.3(TSPEAR):c.1754G>T (p.Ser585Ile) rs782716325 0.00006
NM_152564.5(VPS13B):c.7801G>A (p.Glu2601Lys) rs144350008 0.00006
NM_152564.5(VPS13B):c.9645C>T (p.Leu3215=) rs373968888 0.00006
NM_153240.5(NPHP3):c.255G>A (p.Glu85=) rs146839563 0.00006
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln) rs138592977 0.00006
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_172107.4(KCNQ2):c.774C>T (p.Asn258=) rs770187706 0.00006
NM_173630.4(RTTN):c.4564+8C>T rs563328673 0.00006
NM_181332.3(NLGN4X):c.48G>A (p.Pro16=) rs398124365 0.00006
NM_181486.4(TBX5):c.786C>T (p.Thr262=) rs375955080 0.00006
NM_182914.3(SYNE2):c.15689A>G (p.Lys5230Arg) rs146573874 0.00006
NM_182914.3(SYNE2):c.19501C>T (p.Pro6501Ser) rs200937358 0.00006
NM_182961.4(SYNE1):c.10149A>G (p.Gln3383=) rs369227827 0.00006
NM_182961.4(SYNE1):c.12798T>A (p.Ser4266=) rs373438870 0.00006
NM_182961.4(SYNE1):c.14727G>A (p.Gly4909=) rs767294195 0.00006
NM_182961.4(SYNE1):c.2893-5G>A rs370196519 0.00006
NM_182961.4(SYNE1):c.3879G>A (p.Gln1293=) rs754584363 0.00006
NM_182961.4(SYNE1):c.7308C>T (p.Thr2436=) rs144910464 0.00006
NM_182961.4(SYNE1):c.8403C>T (p.Tyr2801=) rs757104773 0.00006
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His) rs371518124 0.00006
NM_194248.3(OTOF):c.2253G>A (p.Thr751=) rs201888333 0.00006
NM_194248.3(OTOF):c.2359C>T (p.Arg787Cys) rs574277214 0.00006
NM_201384.3(PLEC):c.10178C>T (p.Ala3393Val) rs370079447 0.00006
NM_201384.3(PLEC):c.10413G>A (p.Thr3471=) rs782728053 0.00006
NM_201384.3(PLEC):c.10925A>G (p.Tyr3642Cys) rs782531580 0.00006
NM_201384.3(PLEC):c.1122C>T (p.His374=) rs372270485 0.00006
NM_201384.3(PLEC):c.11721G>A (p.Thr3907=) rs371520192 0.00006
NM_201384.3(PLEC):c.11844G>A (p.Ser3948=) rs782025071 0.00006
NM_201384.3(PLEC):c.13401C>T (p.Ala4467=) rs782114678 0.00006
NM_201384.3(PLEC):c.1668C>T (p.Gly556=) rs369796183 0.00006
NM_201384.3(PLEC):c.3186G>A (p.Thr1062=) rs782437578 0.00006
NM_201384.3(PLEC):c.3369G>A (p.Pro1123=) rs371882486 0.00006
NM_201384.3(PLEC):c.4134G>A (p.Ala1378=) rs558224639 0.00006
NM_201384.3(PLEC):c.4293G>A (p.Ala1431=) rs782198489 0.00006
NM_201384.3(PLEC):c.4839G>A (p.Arg1613=) rs554561043 0.00006
NM_201384.3(PLEC):c.5331G>C (p.Glu1777Asp) rs774270631 0.00006
NM_201384.3(PLEC):c.8799C>T (p.Phe2933=) rs371751910 0.00006
NM_201525.4(ADGRG1):c.27G>A (p.Thr9=) rs142223451 0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_206933.4(USH2A):c.12295-3T>A rs111033518 0.00006
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056 0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599 0.00006
NM_207391.3(RGS9BP):c.96C>G (p.Asp32Glu) rs201148742 0.00006
NM_213599.3(ANO5):c.41-1G>A rs398124625 0.00006
NM_213599.3(ANO5):c.749A>G (p.Tyr250Cys) rs781734224 0.00006
NM_000026.4(ADSL):c.907C>T (p.Arg303Cys) rs373458753 0.00005
NM_000051.4(ATM):c.4665C>T (p.Leu1555=) rs374431061 0.00005
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136 0.00005
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=) rs147914333 0.00005
NM_000070.3(CAPN3):c.258dup (p.Leu87fs) rs753360208 0.00005
NM_000092.5(COL4A4):c.2589C>T (p.Pro863=) rs772517977 0.00005
NM_000092.5(COL4A4):c.4578C>T (p.Asn1526=) rs202109186 0.00005
NM_000093.5(COL5A1):c.1896C>T (p.Phe632=) rs376478864 0.00005
NM_000117.3(EMD):c.355C>A (p.Gln119Lys) rs398123157 0.00005
NM_000117.3(EMD):c.525C>T (p.Ser175=) rs782367505 0.00005
NM_000138.5(FBN1):c.6852T>C (p.Pro2284=) rs201226058 0.00005
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val) rs202240409 0.00005
NM_000152.5(GAA):c.1075+9T>C rs751918816 0.00005
NM_000152.5(GAA):c.1425G>A (p.Pro475=) rs753140491 0.00005
NM_000152.5(GAA):c.2418G>A (p.Thr806=) rs371528938 0.00005
NM_000152.5(GAA):c.510C>T (p.Asp170=) rs564758226 0.00005
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741 0.00005
NM_000169.3(GLA):c.619T>C (p.Tyr207His) rs372416832 0.00005
NM_000169.3(GLA):c.640-801G>A rs199473684 0.00005
NM_000180.4(GUCY2D):c.271G>C (p.Ala91Pro) rs573367793 0.00005
NM_000182.5(HADHA):c.180+3A>G rs781222705 0.00005
NM_000195.5(HPS1):c.1585A>G (p.Ile529Val) rs569192835 0.00005
NM_000214.3(JAG1):c.2781C>T (p.Val927=) rs746664646 0.00005
NM_000214.3(JAG1):c.3521C>T (p.Pro1174Leu) rs775363555 0.00005
NM_000219.6(KCNE1):c.30G>A (p.Thr10=) rs187686559 0.00005
NM_000231.3(SGCG):c.414A>G (p.Gln138=) rs770596449 0.00005
NM_000235.4(LIPA):c.342C>T (p.Asp114=) rs371133960 0.00005
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796 0.00005
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln) rs201178011 0.00005
NM_000260.4(MYO7A):c.5033G>A (p.Arg1678Gln) rs371115266 0.00005
NM_000260.4(MYO7A):c.5169-6C>T rs768594224 0.00005
NM_000283.4(PDE6B):c.2344G>A (p.Val782Met) rs145124626 0.00005
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760 0.00005
NM_000322.5(PRPH2):c.888C>T (p.Pro296=) rs183714869 0.00005
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559 0.00005
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser) rs374222196 0.00005
NM_000368.5(TSC1):c.479G>A (p.Arg160His) rs749979841 0.00005
NM_000368.5(TSC1):c.618T>C (p.His206=) rs118203415 0.00005
NM_000381.4(MID1):c.1663A>C (p.Ile555Leu) rs398123341 0.00005
NM_000381.4(MID1):c.99C>T (p.Cys33=) rs727504015 0.00005
NM_000391.4(TPP1):c.6A>T (p.Gly2=) rs747594496 0.00005
NM_000392.5(ABCC2):c.232C>T (p.Leu78=) rs764390911 0.00005
NM_000392.5(ABCC2):c.2826C>T (p.Asp942=) rs148081784 0.00005
NM_000393.5(COL5A2):c.870T>C (p.Pro290=) rs139656817 0.00005
NM_000443.4(ABCB4):c.438C>T (p.Ile146=) rs776179529 0.00005
NM_000458.4(HNF1B):c.1654-4G>A rs193922485 0.00005
NM_000463.3(UGT1A1):c.1458C>T (p.Tyr486=) rs142077822 0.00005
NM_000463.3(UGT1A1):c.477C>T (p.Ile159=) rs199766420 0.00005
NM_000463.3(UGT1A1):c.524T>A (p.Leu175Gln) rs72551341 0.00005
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile) rs139919229 0.00005
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418 0.00005
NM_000489.6(ATRX):c.7201-4A>G rs782317502 0.00005
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val) rs1800114 0.00005
NM_000492.4(CFTR):c.3469-20T>C rs373002889 0.00005
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg) rs746538672 0.00005
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) rs180714609 0.00005
NM_000540.3(RYR1):c.4113G>C (p.Arg1371Ser) rs551509462 0.00005
NM_000540.3(RYR1):c.9456C>T (p.Phe3152=) rs369206584 0.00005
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val) rs45486591 0.00005
NM_000548.5(TSC2):c.2584G>A (p.Ala862Thr) rs759837836 0.00005
NM_000748.3(CHRNB2):c.1236C>T (p.Gly412=) rs767533378 0.00005
NM_000780.4(CYP7A1):c.1292A>G (p.Lys431Arg) rs151122002 0.00005
NM_000823.4(GHRHR):c.885G>T (p.Val295=) rs146944568 0.00005
NM_000875.5(IGF1R):c.189C>T (p.Leu63=) rs149417802 0.00005
NM_001031710.3(KLHL7):c.1533C>T (p.Val511=) rs886043663 0.00005
NM_001035.3(RYR2):c.10699C>T (p.Arg3567Cys) rs559154874 0.00005
NM_001037.5(SCN1B):c.561C>T (p.Ala187=) rs587781152 0.00005
NM_001048174.2(MUTYH):c.99G>A (p.Lys33=) rs375084663 0.00005
NM_001098671.2(RASGRP2):c.1788G>A (p.Glu596=) rs372060305 0.00005
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) rs397515398 0.00005
NM_001110556.2(FLNA):c.4263C>T (p.Thr1421=) rs398123618 0.00005
NM_001110556.2(FLNA):c.6770-5C>T rs370913359 0.00005
NM_001110792.2(MECP2):c.696C>T (p.Leu232=) rs267608512 0.00005
NM_001123385.2(BCOR):c.3711G>A (p.Val1237=) rs753256966 0.00005
NM_001126121.2(SLC25A19):c.93G>A (p.Ala31=) rs143765189 0.00005
NM_001127222.2(CACNA1A):c.633T>C (p.Ser211=) rs202216404 0.00005
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=) rs200631256 0.00005
NM_001130438.3(SPTAN1):c.1806+4A>G rs770046688 0.00005
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys) rs779241085 0.00005
NM_001136193.2(FASTKD2):c.1353A>G (p.Leu451=) rs369427864 0.00005
NM_001144967.3(NEDD4L):c.965A>G (p.Asn322Ser) rs749019037 0.00005
NM_001148.6(ANK2):c.10708G>A (p.Glu3570Lys) rs180843436 0.00005
NM_001159699.2(FHL1):c.408C>T (p.Thr136=) rs755900253 0.00005
NM_001159699.2(FHL1):c.456C>T (p.Ile152=) rs747594885 0.00005
NM_001159699.2(FHL1):c.53C>T (p.Ala18Val) rs146125558 0.00005
NM_001165963.4(SCN1A):c.1499G>A (p.Arg500Gln) rs200176684 0.00005
NM_001165963.4(SCN1A):c.2057A>C (p.Glu686Ala) rs374767754 0.00005
NM_001165963.4(SCN1A):c.3060C>A (p.His1020Gln) rs150154265 0.00005
NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro) rs121909394 0.00005
NM_001177316.2(SLC34A3):c.987C>T (p.Ala329=) rs372523225 0.00005
NM_001199107.2(TBC1D24):c.1125C>T (p.His375=) rs749163517 0.00005
NM_001206979.2(NR1H4):c.345C>T (p.Gly115=) rs372358310 0.00005
NM_001267550.2(TTN):c.101506T>A (p.Cys33836Ser) rs766439271 0.00005
NM_001267550.2(TTN):c.103215C>T (p.Leu34405=) rs748516187 0.00005
NM_001267550.2(TTN):c.104581C>T (p.Arg34861Cys) rs398124463 0.00005
NM_001267550.2(TTN):c.11440G>A (p.Glu3814Lys) rs375103237 0.00005
NM_001267550.2(TTN):c.1895G>A (p.Gly632Asp) rs150231219 0.00005
NM_001267550.2(TTN):c.208G>A (p.Val70Met) rs772248060 0.00005
NM_001267550.2(TTN):c.23616C>T (p.Asn7872=) rs181206334 0.00005
NM_001267550.2(TTN):c.24114C>T (p.Asn8038=) rs199576800 0.00005
NM_001267550.2(TTN):c.2506G>A (p.Gly836Ser) rs751157908 0.00005
NM_001267550.2(TTN):c.26619C>A (p.Asp8873Glu) rs772596633 0.00005
NM_001267550.2(TTN):c.2734C>T (p.Arg912Cys) rs371156190 0.00005
NM_001267550.2(TTN):c.28042C>G (p.Gln9348Glu) rs794727987 0.00005
NM_001267550.2(TTN):c.28971G>A (p.Ser9657=) rs370903846 0.00005
NM_001267550.2(TTN):c.3030C>T (p.Ser1010=) rs374346637 0.00005
NM_001267550.2(TTN):c.3035G>A (p.Arg1012Gln) rs368885310 0.00005
NM_001267550.2(TTN):c.39230T>C (p.Val13077Ala) rs398124449 0.00005
NM_001267550.2(TTN):c.39250G>T (p.Val13084Leu) rs72650062 0.00005
NM_001267550.2(TTN):c.43161G>A (p.Glu14387=) rs765214404 0.00005
NM_001267550.2(TTN):c.50385T>C (p.Gly16795=) rs374672630 0.00005
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile) rs190574498 0.00005
NM_001267550.2(TTN):c.54381+6C>G rs368265962 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.56535G>A (p.Thr18845=) rs529480368 0.00005
NM_001267550.2(TTN):c.56871C>T (p.Ser18957=) rs370619063 0.00005
NM_001267550.2(TTN):c.57682C>T (p.Arg19228Cys) rs757820671 0.00005
NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe) rs368025965 0.00005
NM_001267550.2(TTN):c.58841T>C (p.Ile19614Thr) rs199933004 0.00005
NM_001267550.2(TTN):c.59657T>G (p.Val19886Gly) rs755949982 0.00005
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln) rs373062007 0.00005
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn) rs727503577 0.00005
NM_001267550.2(TTN):c.67637-4A>G rs376053678 0.00005
NM_001267550.2(TTN):c.72113C>T (p.Thr24038Met) rs370375696 0.00005
NM_001267550.2(TTN):c.72552C>T (p.Val24184=) rs727504187 0.00005
NM_001267550.2(TTN):c.73914G>A (p.Glu24638=) rs376382707 0.00005
NM_001267550.2(TTN):c.77907C>T (p.Asn25969=) rs375903820 0.00005
NM_001267550.2(TTN):c.81737T>C (p.Ile27246Thr) rs367603381 0.00005
NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr) rs376037252 0.00005
NM_001267550.2(TTN):c.82486G>A (p.Asp27496Asn) rs554231442 0.00005
NM_001267550.2(TTN):c.89760A>C (p.Glu29920Asp) rs747181293 0.00005
NM_001267550.2(TTN):c.92612T>C (p.Val30871Ala) rs756610221 0.00005
NM_001267550.2(TTN):c.93917T>C (p.Ile31306Thr) rs555405542 0.00005
NM_001267550.2(TTN):c.94700A>G (p.Asn31567Ser) rs886042885 0.00005
NM_001267550.2(TTN):c.95130C>A (p.Gly31710=) rs727504857 0.00005
NM_001267550.2(TTN):c.95541T>G (p.Arg31847=) rs749477738 0.00005
NM_001267550.2(TTN):c.97156G>A (p.Gly32386Arg) rs758534800 0.00005
NM_001267550.2(TTN):c.97472T>C (p.Ile32491Thr) rs781572378 0.00005
NM_001267550.2(TTN):c.99434G>A (p.Arg33145Gln) rs371531675 0.00005
NM_001267550.2(TTN):c.99922G>A (p.Ala33308Thr) rs201226974 0.00005
NM_001278116.2(L1CAM):c.2872+9G>A rs398123363 0.00005
NM_001292063.2(OTOG):c.937C>A (p.Pro313Thr) rs777809121 0.00005
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878 0.00005
NM_001323289.2(CDKL5):c.2469C>T (p.Pro823=) rs369377144 0.00005
NM_001330078.2(NRXN1):c.270G>T (p.Gln90His) rs199960045 0.00005
NM_001360.3(DHCR7):c.288C>T (p.Ala96=) rs745595242 0.00005
NM_001360.3(DHCR7):c.69C>T (p.Thr23=) rs199798127 0.00005
NM_001365536.1(SCN9A):c.1975-8T>A rs752961542 0.00005
NM_001367721.1(CASK):c.42G>C (p.Leu14=) rs377590077 0.00005
NM_001374353.1(GLI2):c.4241C>T (p.Pro1414Leu) rs749402521 0.00005
NM_001374385.1(ATP8B1):c.1620T>C (p.Asp540=) rs201514636 0.00005
NM_001374385.1(ATP8B1):c.2521A>C (p.Arg841=) rs149156534 0.00005
NM_001374385.1(ATP8B1):c.276T>C (p.Tyr92=) rs749127600 0.00005
NM_001374385.1(ATP8B1):c.297A>T (p.Thr99=) rs575921074 0.00005
NM_001378120.1(MBD5):c.692T>C (p.Ile231Thr) rs199530726 0.00005
NM_001378414.1(HDAC4):c.1434C>T (p.Asn478=) rs754530774 0.00005
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=) rs539688337 0.00005
NM_001457.4(FLNB):c.2965G>A (p.Val989Met) rs76471260 0.00005
NM_001701.4(BAAT):c.762G>A (p.Thr254=) rs760488689 0.00005
NM_001701.4(BAAT):c.797T>C (p.Ile266Thr) rs539433580 0.00005
NM_001848.3(COL6A1):c.2709C>T (p.Ala903=) rs139018148 0.00005
NM_001849.4(COL6A2):c.1869C>T (p.Ser623=) rs760704425 0.00005
NM_001849.4(COL6A2):c.2205C>T (p.His735=) rs755147431 0.00005
NM_001849.4(COL6A2):c.2565C>T (p.Phe855=) rs774805224 0.00005
NM_001849.4(COL6A2):c.2904C>T (p.Asn968=) rs143569686 0.00005
NM_001849.4(COL6A2):c.648C>T (p.Tyr216=) rs150004111 0.00005
NM_001931.5(DLAT):c.165C>G (p.Val55=) rs199520186 0.00005
NM_001966.4(EHHADH):c.855C>T (p.Ser285=) rs752275123 0.00005
NM_002180.3(IGHMBP2):c.2643G>A (p.Glu881=) rs374950193 0.00005
NM_002427.4(MMP13):c.619T>G (p.Trp207Gly) rs140059558 0.00005
NM_002473.6(MYH9):c.3213C>T (p.Ile1071=) rs552133535 0.00005
NM_002547.3(OPHN1):c.702+8T>C rs369382527 0.00005
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp) rs373118250 0.00005
NM_002693.3(POLG):c.1850G>A (p.Arg617His) rs779961986 0.00005
NM_003482.4(KMT2D):c.14474G>A (p.Arg4825Gln) rs758494772 0.00005
NM_003482.4(KMT2D):c.6345C>T (p.Ser2115=) rs368856357 0.00005
NM_003491.4(NAA10):c.201G>C (p.Val67=) rs375971315 0.00005
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe) rs375310569 0.00005
NM_003742.4(ABCB11):c.3214-6C>G rs750991541 0.00005
NM_003835.4(RGS9):c.69C>T (p.Leu23=) rs373346845 0.00005
NM_003839.4(TNFRSF11A):c.1416C>T (p.Cys472=) rs771249524 0.00005
NM_004006.3(DMD):c.145C>T (p.Arg49Cys) rs147548697 0.00005
NM_004006.3(DMD):c.1687C>T (p.Arg563Cys) rs145739725 0.00005
NM_004006.3(DMD):c.2245A>G (p.Ile749Val) rs771803281 0.00005
NM_004006.3(DMD):c.3375G>A (p.Ser1125=) rs191164314 0.00005
NM_004006.3(DMD):c.3936G>C (p.Leu1312Phe) rs377156960 0.00005
NM_004006.3(DMD):c.3959C>G (p.Pro1320Arg) rs766977775 0.00005
NM_004006.3(DMD):c.434G>A (p.Arg145Gln) rs398123952 0.00005
NM_004006.3(DMD):c.6452G>A (p.Gly2151Asp) rs727503815 0.00005
NM_004006.3(DMD):c.7914T>C (p.Asp2638=) rs754997935 0.00005
NM_004006.3(DMD):c.8322G>A (p.Leu2774=) rs72466575 0.00005
NM_004006.3(DMD):c.8886C>T (p.Pro2962=) rs371648038 0.00005
NM_004006.3(DMD):c.923C>A (p.Thr308Asn) rs145064612 0.00005
NM_004369.4(COL6A3):c.2994G>A (p.Ser998=) rs768233315 0.00005
NM_004369.4(COL6A3):c.3555C>T (p.Ala1185=) rs373719229 0.00005
NM_004369.4(COL6A3):c.3901C>T (p.Arg1301Trp) rs150430813 0.00005
NM_004369.4(COL6A3):c.7749G>A (p.Thr2583=) rs758582935 0.00005
NM_004380.3(CREBBP):c.3060+10G>A rs398124143 0.00005
NM_004463.3(FGD1):c.2047-5C>A rs368646447 0.00005
NM_004463.3(FGD1):c.2314G>A (p.Val772Ile) rs373950992 0.00005
NM_004560.4(ROR2):c.1712A>G (p.His571Arg) rs376970201 0.00005
NM_004560.4(ROR2):c.822C>T (p.Asn274=) rs140557090 0.00005
NM_004817.4(TJP2):c.911G>A (p.Gly304Glu) rs200222645 0.00005
NM_004820.5(CYP7B1):c.1036T>C (p.Leu346=) rs535728519 0.00005
NM_004820.5(CYP7B1):c.171A>T (p.Gly57=) rs372135575 0.00005
NM_004836.7(EIF2AK3):c.744C>T (p.Val248=) rs147298435 0.00005
NM_005120.3(MED12):c.4971T>C (p.Leu1657=) rs398124198 0.00005
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser) rs377119288 0.00005
NM_005422.4(TECTA):c.2088C>T (p.Cys696=) rs368288093 0.00005
NM_005477.3(HCN4):c.2864C>T (p.Pro955Leu) rs371562763 0.00005
NM_005633.4(SOS1):c.3387C>T (p.Gly1129=) rs772823827 0.00005
NM_006005.3(WFS1):c.498C>G (p.Leu166=) rs758731318 0.00005
NM_006031.6(PCNT):c.7180-7G>A rs201549624 0.00005
NM_006432.5(NPC2):c.264T>C (p.Pro88=) rs1011669605 0.00005
NM_006922.4(SCN3A):c.4899T>A (p.Arg1633=) rs748935500 0.00005
NM_007254.4(PNKP):c.968C>T (p.Thr323Met) rs372148913 0.00005
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala) rs80356860 0.00005
NM_012210.4(TRIM32):c.1458C>T (p.Thr486=) rs141965401 0.00005
NM_012210.4(TRIM32):c.693A>C (p.Ala231=) rs368455215 0.00005
NM_012470.4(TNPO3):c.2431-6A>C rs190759031 0.00005
NM_013382.7(POMT2):c.2057G>A (p.Arg686Gln) rs200163818 0.00005
NM_014141.6(CNTNAP2):c.3180G>A (p.Ala1060=) rs372645983 0.00005
NM_014251.3(SLC25A13):c.960A>G (p.Pro320=) rs765358773 0.00005
NM_014363.6(SACS):c.1202G>A (p.Arg401Gln) rs749599838 0.00005
NM_014467.3(SRPX2):c.224A>T (p.Lys75Met) rs767072861 0.00005
NM_014780.5(CUL7):c.4146T>C (p.Tyr1382=) rs760451045 0.00005
NM_014795.4(ZEB2):c.219C>T (p.His73=) rs778851716 0.00005
NM_014989.7(RIMS1):c.28C>T (p.Pro10Ser) rs200935038 0.00005
NM_015102.5(NPHP4):c.1851C>T (p.Ala617=) rs201192584 0.00005
NM_015272.5(RPGRIP1L):c.255A>G (p.Leu85=) rs143189638 0.00005
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203 0.00005
NM_015295.3(SMCHD1):c.4461A>G (p.Gln1487=) rs763699437 0.00005
NM_015629.4(PRPF31):c.138T>C (p.Asp46=) rs76251057 0.00005
NM_017780.4(CHD7):c.3366G>C (p.Lys1122Asn) rs41272440 0.00005
NM_018136.5(ASPM):c.9657T>G (p.Ser3219=) rs756879923 0.00005
NM_018418.5(SPATA7):c.1446C>T (p.Asn482=) rs766017194 0.00005
NM_018668.5(VPS33B):c.1749C>T (p.Ala583=) rs201436915 0.00005
NM_020297.4(ABCC9):c.4512+777G>A rs542730918 0.00005
NM_020822.3(KCNT1):c.408C>T (p.Leu136=) rs370046449 0.00005
NM_022081.6(HPS4):c.1857G>A (p.Pro619=) rs373421312 0.00005
NM_022124.6(CDH23):c.330C>T (p.His110=) rs201232514 0.00005
NM_022436.3(ABCG5):c.1500A>G (p.Gly500=) rs767584159 0.00005
NM_022455.5(NSD1):c.2266A>G (p.Asn756Asp) rs142657029 0.00005
NM_022455.5(NSD1):c.2399T>C (p.Met800Thr) rs142023792 0.00005
NM_022455.5(NSD1):c.4303-4A>G rs775759198 0.00005
NM_024408.4(NOTCH2):c.6140G>A (p.Arg2047Gln) rs371060516 0.00005
NM_024408.4(NOTCH2):c.6979A>G (p.Thr2327Ala) rs587778578 0.00005
NM_032119.4(ADGRV1):c.11253C>T (p.Tyr3751=) rs376689763 0.00005
NM_032119.4(ADGRV1):c.12208G>A (p.Val4070Ile) rs200943280 0.00005
NM_032119.4(ADGRV1):c.16325G>A (p.Gly5442Asp) rs376505416 0.00005
NM_032119.4(ADGRV1):c.18144T>C (p.His6048=) rs188017433 0.00005
NM_032119.4(ADGRV1):c.6859G>A (p.Val2287Ile) rs868801998 0.00005
NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe) rs376318779 0.00005
NM_033337.3(CAV3):c.244G>A (p.Val82Ile) rs112626848 0.00005
NM_080680.3(COL11A2):c.4675C>T (p.Arg1559Trp) rs370966667 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_138694.4(PKHD1):c.11607C>T (p.Ala3869=) rs752509045 0.00005
NM_139343.3(BIN1):c.924C>T (p.Pro308=) rs367611371 0.00005
NM_144639.3(UROC1):c.970C>T (p.Arg324Cys) rs377309471 0.00005
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala) rs201296399 0.00005
NM_170699.3(GPBAR1):c.857G>A (p.Arg286His) rs201573186 0.00005
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745 0.00005
NM_172107.4(KCNQ2):c.2087C>T (p.Thr696Met) rs570139975 0.00005
NM_172364.5(CACNA2D4):c.2054+4A>T rs200648405 0.00005
NM_181332.3(NLGN4X):c.999G>A (p.Pro333=) rs398124367 0.00005
NM_182914.3(SYNE2):c.3885C>T (p.His1295=) rs570341792 0.00005
NM_182961.4(SYNE1):c.20069C>T (p.Thr6690Met) rs143674856 0.00005
NM_198525.3(KIF7):c.3795G>A (p.Thr1265=) rs148749994 0.00005
NM_201384.3(PLEC):c.13449C>T (p.Ser4483=) rs782187551 0.00005
NM_201384.3(PLEC):c.3873G>A (p.Ala1291=) rs374669316 0.00005
NM_201384.3(PLEC):c.4326G>A (p.Ala1442=) rs369943756 0.00005
NM_201384.3(PLEC):c.6168C>T (p.Phe2056=) rs370313601 0.00005
NM_201384.3(PLEC):c.7485C>T (p.Phe2495=) rs542567139 0.00005
NM_201384.3(PLEC):c.9528C>T (p.Ala3176=) rs368317567 0.00005
NM_206933.4(USH2A):c.14073C>T (p.Asn4691=) rs370364142 0.00005
NM_206933.4(USH2A):c.14760C>T (p.Ser4920=) rs778669346 0.00005
NM_207361.6(FREM2):c.6807G>A (p.Ser2269=) rs752080876 0.00005
NM_213599.3(ANO5):c.1924C>G (p.Arg642Gly) rs146341538 0.00005
NM_000017.4(ACADS):c.147C>G (p.Ala49=) rs202193021 0.00004
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866 0.00004
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907 0.00004
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln) rs370720208 0.00004
NM_000023.4(SGCA):c.270C>T (p.Tyr90=) rs749205073 0.00004
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu) rs368080169 0.00004
NM_000051.4(ATM):c.5763-1050A>G rs774925473 0.00004
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr) rs587781365 0.00004
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr) rs60431989 0.00004
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu) rs201427280 0.00004
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser) rs80358531 0.00004
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853 0.00004
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676 0.00004
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879 0.00004
NM_000070.3(CAPN3):c.183C>T (p.Phe61=) rs146069933 0.00004
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His) rs190793093 0.00004
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478 0.00004
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser) rs369784333 0.00004
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp) rs528417986 0.00004
NM_000082.4(ERCC8):c.510T>C (p.Leu170=) rs886042104 0.00004
NM_000088.4(COL1A1):c.299-9G>T rs373041336 0.00004
NM_000092.5(COL4A4):c.90C>T (p.Leu30=) rs747805491 0.00004
NM_000098.3(CPT2):c.1646G>A (p.Gly549Asp) rs186044004 0.00004
NM_000117.3(EMD):c.171C>T (p.Ser57=) rs900267221 0.00004
NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter) rs906755254 0.00004
NM_000128.4(F11):c.400C>T (p.Gln134Ter) rs756908183 0.00004
NM_000152.5(GAA):c.1416C>T (p.Thr472=) rs368492669 0.00004
NM_000152.5(GAA):c.1629C>T (p.Tyr543=) rs372193105 0.00004
NM_000152.5(GAA):c.2656G>A (p.Val886Met) rs372802420 0.00004
NM_000152.5(GAA):c.861C>T (p.Pro287=) rs778580823 0.00004
NM_000153.4(GALC):c.1592G>A (p.Arg531His) rs200378205 0.00004
NM_000157.4(GBA1):c.928A>G (p.Ser310Gly) rs1057942 0.00004
NM_000179.3(MSH6):c.2418C>T (p.Ser806=) rs770992427 0.00004
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala) rs564434147 0.00004
NM_000182.5(HADHA):c.919-2A>G rs200017313 0.00004
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997 0.00004
NM_000214.3(JAG1):c.2304C>T (p.Cys768=) rs755427292 0.00004
NM_000214.3(JAG1):c.3651C>T (p.Ile1217=) rs542831744 0.00004
NM_000235.4(LIPA):c.714G>A (p.Ala238=) rs139282720 0.00004
NM_000245.4(MET):c.1019A>G (p.Asp340Gly) rs200690492 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000260.4(MYO7A):c.3729G>A (p.Pro1243=) rs727504023 0.00004
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513 0.00004
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) rs757286784 0.00004
NM_000283.4(PDE6B):c.1685G>A (p.Gly562Asp) rs774268095 0.00004
NM_000295.5(SERPINA1):c.381C>T (p.Leu127=) rs372438611 0.00004
NM_000316.3(PTH1R):c.645G>T (p.Leu215=) rs201490454 0.00004
NM_000322.5(PRPH2):c.271T>A (p.Tyr91Asn) rs747893076 0.00004
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=) rs189230866 0.00004
NM_000335.5(SCN5A):c.435C>T (p.Cys145=) rs587781159 0.00004
NM_000335.5(SCN5A):c.5869C>T (p.Arg1957Ter) rs757532106 0.00004
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp) rs549319429 0.00004
NM_000337.6(SGCD):c.756G>A (p.Thr252=) rs756467431 0.00004
NM_000346.4(SOX9):c.918G>A (p.Val306=) rs367966473 0.00004
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met) rs74516571 0.00004
NM_000372.5(TYR):c.759A>T (p.Gly253=) rs200936835 0.00004
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143 0.00004
NM_000392.5(ABCC2):c.1586G>A (p.Arg529Gln) rs781337846 0.00004
NM_000392.5(ABCC2):c.213C>T (p.Phe71=) rs770824435 0.00004
NM_000392.5(ABCC2):c.3591C>G (p.Val1197=) rs774159224 0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 0.00004
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=) rs200347945 0.00004
NM_000426.4(LAMA2):c.5469C>T (p.Ser1823=) rs753886576 0.00004
NM_000440.3(PDE6A):c.251A>T (p.Lys84Met) rs771965437 0.00004
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021 0.00004
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser) rs766206507 0.00004
NM_000443.4(ABCB4):c.1356+10A>G rs374723850 0.00004
NM_000452.3(SLC10A2):c.846G>A (p.Glu282=) rs746750365 0.00004
NM_000458.4(HNF1B):c.1008C>T (p.His336=) rs150268130 0.00004
NM_000458.4(HNF1B):c.1539C>T (p.Tyr513=) rs780554506 0.00004
NM_000478.6(ALPL):c.398C>G (p.Ala133Gly) rs184095519 0.00004
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458 0.00004
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00004
NM_000492.4(CFTR):c.1227T>C (p.Phe409=) rs778548877 0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00004
NM_000492.4(CFTR):c.393T>C (p.Phe131=) rs1039221071 0.00004
NM_000516.7(GNAS):c.108C>T (p.Val36=) rs146581290 0.00004
NM_000535.7(PMS2):c.*17G>C rs556089649 0.00004
NM_000539.3(RHO):c.362-10T>C rs568571580 0.00004
NM_000540.3(RYR1):c.10917G>A (p.Thr3639=) rs371952058 0.00004
NM_000540.3(RYR1):c.13498G>A (p.Glu4500Lys) rs752192756 0.00004
NM_000540.3(RYR1):c.3108C>A (p.Asp1036Glu) rs759317223 0.00004
NM_000540.3(RYR1):c.6274+1G>A rs1226228092 0.00004
NM_000540.3(RYR1):c.8305G>A (p.Asp2769Asn) rs566495420 0.00004
NM_000540.3(RYR1):c.9354G>A (p.Ala3118=) rs146408926 0.00004
NM_000543.5(SMPD1):c.1587G>A (p.Pro529=) rs140770832 0.00004
NM_000543.5(SMPD1):c.39C>T (p.Pro13=) rs775473869 0.00004
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg) rs727504166 0.00004
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) rs120074124 0.00004
NM_000548.5(TSC2):c.1600-9T>C rs886043268 0.00004
NM_000709.4(BCKDHA):c.1080C>T (p.Pro360=) rs373390136 0.00004
NM_000719.7(CACNA1C):c.1554C>T (p.Arg518=) rs398123517 0.00004
NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=) rs587780881 0.00004
NM_000726.5(CACNB4):c.36G>A (p.Ala12=) rs754380009 0.00004
NM_000744.7(CHRNA4):c.383+7C>T rs200690355 0.00004
NM_000780.4(CYP7A1):c.1409T>C (p.Ile470Thr) rs779269724 0.00004
NM_000780.4(CYP7A1):c.318G>A (p.Ala106=) rs200839929 0.00004
NM_000784.4(CYP27A1):c.1569C>T (p.Gly523=) rs748616891 0.00004
NM_000875.5(IGF1R):c.1485C>T (p.Phe495=) rs886043360 0.00004
NM_000883.4(IMPDH1):c.1623C>T (p.Phe541=) rs749416988 0.00004
NM_001005242.3(PKP2):c.1452G>A (p.Thr484=) rs727504098 0.00004
NM_001005242.3(PKP2):c.789G>A (p.Thr263=) rs760432217 0.00004
NM_001034116.2(EIF2B4):c.1399C>T (p.Arg467Trp) rs138249238 0.00004
NM_001035.3(RYR2):c.4160+7A>G rs377465289 0.00004
NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met) rs770863319 0.00004
NM_001040142.2(SCN2A):c.2019C>G (p.Gly673=) rs587781156 0.00004
NM_001048166.1(STIL):c.1227T>C (p.Ser409=) rs200532713 0.00004
NM_001048166.1(STIL):c.892A>G (p.Asn298Asp) rs770213403 0.00004
NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu) rs587778542 0.00004
NM_001061.7(TBXAS1):c.51G>A (p.Thr17=) rs201600575 0.00004
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile) rs377304621 0.00004
NM_001077365.2(POMT1):c.2003+9G>A rs368975092 0.00004
NM_001077365.2(POMT1):c.310C>T (p.Leu104=) rs146982282 0.00004
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) rs200799769 0.00004
NM_001079802.2(FKTN):c.1228C>A (p.His410Asn) rs146272618 0.00004
NM_001083961.2(WDR62):c.1977C>T (p.Asn659=) rs79238222 0.00004
NM_001101426.4(CRPPA):c.789+9G>A rs375132134 0.00004
NM_001105206.3(LAMA4):c.3165C>T (p.Ser1055=) rs782303510 0.00004
NM_001110556.2(FLNA):c.1964G>A (p.Arg655His) rs782563602 0.00004
NM_001110556.2(FLNA):c.3216G>A (p.Ala1072=) rs782006734 0.00004
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu) rs782426283 0.00004
NM_001110556.2(FLNA):c.5218-4G>A rs370196495 0.00004
NM_001110792.2(MECP2):c.1410C>T (p.Arg470=) rs781825661 0.00004
NM_001122630.2(CDKN1C):c.579G>A (p.Pro193=) rs794726872 0.00004
NM_001126121.2(SLC25A19):c.564C>T (p.Tyr188=) rs145654111 0.00004
NM_001127222.2(CACNA1A):c.1233G>A (p.Gly411=) rs764453012 0.00004
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384 0.00004
NM_001127222.2(CACNA1A):c.3684G>A (p.Thr1228=) rs368048030 0.00004
NM_001127222.2(CACNA1A):c.5451C>T (p.Thr1817=) rs188863534 0.00004
NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu) rs140814100 0.00004
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569 0.00004
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln) rs780427871 0.00004
NM_001128225.3(SLC39A13):c.222T>A (p.Gly74=) rs753665968 0.00004
NM_001128840.3(CACNA1D):c.5439C>T (p.Ser1813=) rs761519681 0.00004
NM_001130987.2(DYSF):c.1985-4C>G rs374489513 0.00004
NM_001130987.2(DYSF):c.2370G>A (p.Ala790=) rs553605812 0.00004
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=) rs373328706 0.00004
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp) rs760443264 0.00004
NM_001130987.2(DYSF):c.5742C>T (p.Phe1914=) rs769289729 0.00004
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp) rs149827237 0.00004
NM_001145358.2(SIN3A):c.618C>A (p.Gly206=) rs372626992 0.00004
NM_001145358.2(SIN3A):c.621G>A (p.Gln207=) rs372433846 0.00004
NM_001145860.2(POP1):c.163C>T (p.Arg55Ter) rs370453487 0.00004
NM_001148.6(ANK2):c.1773T>C (p.Ser591=) rs374775005 0.00004
NM_001164508.2(NEB):c.7582G>A (p.Asp2528Asn) rs369496057 0.00004
NM_001164688.2(RD3):c.498C>T (p.Ile166=) rs779584830 0.00004
NM_001165963.4(SCN1A):c.3585T>C (p.Asn1195=) rs138181528 0.00004
NM_001177316.2(SLC34A3):c.1164A>G (p.Ala388=) rs762986714 0.00004
NM_001177316.2(SLC34A3):c.882G>A (p.Pro294=) rs370122685 0.00004
NM_001182.5(ALDH7A1):c.1017T>C (p.His339=) rs200394848 0.00004
NM_001191061.2(SLC25A22):c.726C>T (p.Ala242=) rs771026197 0.00004
NM_001193315.2(VIPAS39):c.632-9G>A rs370850533 0.00004
NM_001199107.2(TBC1D24):c.606G>A (p.Ser202=) rs61731478 0.00004
NM_001206979.2(NR1H4):c.302C>T (p.Thr101Ile) rs200146597 0.00004
NM_001206979.2(NR1H4):c.963T>C (p.Ile321=) rs757460153 0.00004
NM_001252024.2(TRPM1):c.2848C>T (p.Arg950Trp) rs727504182 0.00004
NM_001252024.2(TRPM1):c.3064C>T (p.Arg1022Ter) rs369742878 0.00004
NM_001267550.2(TTN):c.100384G>A (p.Glu33462Lys) rs748104690 0.00004
NM_001267550.2(TTN):c.101037G>A (p.Gln33679=) rs377190399 0.00004
NM_001267550.2(TTN):c.10128G>A (p.Ser3376=) rs755262343 0.00004
NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr) rs370618537 0.00004
NM_001267550.2(TTN):c.104978C>T (p.Thr34993Met) rs368945564 0.00004
NM_001267550.2(TTN):c.105608T>C (p.Val35203Ala) rs771136390 0.00004
NM_001267550.2(TTN):c.106927G>A (p.Val35643Ile) rs754459138 0.00004
NM_001267550.2(TTN):c.107591T>C (p.Val35864Ala) rs374859388 0.00004
NM_001267550.2(TTN):c.11910A>T (p.Thr3970=) rs727503660 0.00004
NM_001267550.2(TTN):c.13618G>A (p.Val4540Met) rs201046911 0.00004
NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr) rs34337578 0.00004
NM_001267550.2(TTN):c.15822A>T (p.Ala5274=) rs779456916 0.00004
NM_001267550.2(TTN):c.16056T>C (p.Asp5352=) rs376820575 0.00004
NM_001267550.2(TTN):c.17833T>C (p.Ser5945Pro) rs776790387 0.00004
NM_001267550.2(TTN):c.18561G>A (p.Ala6187=) rs377556808 0.00004
NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys) rs72648948 0.00004
NM_001267550.2(TTN):c.19677A>C (p.Ala6559=) rs372654116 0.00004
NM_001267550.2(TTN):c.21003A>G (p.Lys7001=) rs727504579 0.00004
NM_001267550.2(TTN):c.21906C>T (p.Cys7302=) rs370548693 0.00004
NM_001267550.2(TTN):c.22575T>A (p.Asp7525Glu) rs200061856 0.00004
NM_001267550.2(TTN):c.23067C>T (p.Asp7689=) rs191854953 0.00004
NM_001267550.2(TTN):c.23444G>A (p.Arg7815Gln) rs372804810 0.00004
NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn) rs766935265 0.00004
NM_001267550.2(TTN):c.27847G>A (p.Val9283Met) rs727504515 0.00004
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys) rs375266859 0.00004
NM_001267550.2(TTN):c.30088C>T (p.Pro10030Ser) rs368531555 0.00004
NM_001267550.2(TTN):c.30283G>A (p.Ala10095Thr) rs201635835 0.00004
NM_001267550.2(TTN):c.31518C>T (p.Pro10506=) rs746912694 0.00004
NM_001267550.2(TTN):c.35268G>A (p.Pro11756=) rs778338717 0.00004
NM_001267550.2(TTN):c.36776C>T (p.Ala12259Val) rs755562550 0.00004
NM_001267550.2(TTN):c.3680A>G (p.Lys1227Arg) rs541811273 0.00004
NM_001267550.2(TTN):c.40557C>T (p.Ser13519=) rs371178429 0.00004
NM_001267550.2(TTN):c.41920G>A (p.Val13974Ile) rs373881831 0.00004
NM_001267550.2(TTN):c.42672G>T (p.Leu14224=) rs368155350 0.00004
NM_001267550.2(TTN):c.4284T>A (p.Ser1428=) rs771454835 0.00004
NM_001267550.2(TTN):c.42873G>A (p.Ala14291=) rs370216450 0.00004
NM_001267550.2(TTN):c.44418C>T (p.Ser14806=) rs368005198 0.00004
NM_001267550.2(TTN):c.45212T>C (p.Ile15071Thr) rs184078045 0.00004
NM_001267550.2(TTN):c.45760A>T (p.Ile15254Phe) rs72677226 0.00004
NM_001267550.2(TTN):c.46363G>A (p.Asp15455Asn) rs370813526 0.00004
NM_001267550.2(TTN):c.46489G>T (p.Val15497Phe) rs371299188 0.00004
NM_001267550.2(TTN):c.47089C>T (p.Arg15697Cys) rs780334981 0.00004
NM_001267550.2(TTN):c.47129G>A (p.Arg15710His) rs185689179 0.00004
NM_001267550.2(TTN):c.47217C>T (p.Gly15739=) rs373305832 0.00004
NM_001267550.2(TTN):c.48395G>A (p.Arg16132His) rs397517593 0.00004
NM_001267550.2(TTN):c.48571A>G (p.Ile16191Val) rs747433688 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.5255G>A (p.Arg1752His) rs150737838 0.00004
NM_001267550.2(TTN):c.5264A>G (p.Asn1755Ser) rs201904897 0.00004
NM_001267550.2(TTN):c.54360T>C (p.Thr18120=) rs749248039 0.00004
NM_001267550.2(TTN):c.54477C>G (p.Val18159=) rs374335905 0.00004
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His) rs140914855 0.00004
NM_001267550.2(TTN):c.56686G>A (p.Val18896Met) rs370629962 0.00004
NM_001267550.2(TTN):c.58008T>C (p.Asn19336=) rs770525693 0.00004
NM_001267550.2(TTN):c.597A>G (p.Val199=) rs144214844 0.00004
NM_001267550.2(TTN):c.60786T>C (p.Pro20262=) rs1217782958 0.00004
NM_001267550.2(TTN):c.61481T>C (p.Ile20494Thr) rs374845737 0.00004
NM_001267550.2(TTN):c.62097A>G (p.Pro20699=) rs774995592 0.00004
NM_001267550.2(TTN):c.62547G>A (p.Thr20849=) rs368969893 0.00004
NM_001267550.2(TTN):c.63463C>T (p.Arg21155Cys) rs374727686 0.00004
NM_001267550.2(TTN):c.65047C>A (p.Pro21683Thr) rs528707403 0.00004
NM_001267550.2(TTN):c.65173G>A (p.Val21725Ile) rs368716894 0.00004
NM_001267550.2(TTN):c.65649G>T (p.Leu21883Phe) rs374736305 0.00004
NM_001267550.2(TTN):c.66288A>G (p.Glu22096=) rs368297582 0.00004
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186 0.00004
NM_001267550.2(TTN):c.69044C>T (p.Ala23015Val) rs771710562 0.00004
NM_001267550.2(TTN):c.70743C>T (p.His23581=) rs375194057 0.00004
NM_001267550.2(TTN):c.70833G>A (p.Ala23611=) rs377220635 0.00004
NM_001267550.2(TTN):c.70998A>G (p.Thr23666=) rs767989384 0.00004
NM_001267550.2(TTN):c.72114G>A (p.Thr24038=) rs768064912 0.00004
NM_001267550.2(TTN):c.73873T>C (p.Leu24625=) rs545556079 0.00004
NM_001267550.2(TTN):c.73935C>A (p.Gly24645=) rs375726644 0.00004
NM_001267550.2(TTN):c.73937G>A (p.Ser24646Asn) rs370902028 0.00004
NM_001267550.2(TTN):c.74513G>C (p.Gly24838Ala) rs200723435 0.00004
NM_001267550.2(TTN):c.75668C>T (p.Thr25223Ile) rs370070176 0.00004
NM_001267550.2(TTN):c.77268A>G (p.Ala25756=) rs376372388 0.00004
NM_001267550.2(TTN):c.78039A>C (p.Glu26013Asp) rs755117644 0.00004
NM_001267550.2(TTN):c.78774A>G (p.Arg26258=) rs368270588 0.00004
NM_001267550.2(TTN):c.80586C>T (p.Ser26862=) rs748292845 0.00004
NM_001267550.2(TTN):c.81147T>C (p.Ala27049=) rs765706611 0.00004
NM_001267550.2(TTN):c.81938G>A (p.Gly27313Glu) rs199670463 0.00004
NM_001267550.2(TTN):c.83580G>A (p.Val27860=) rs200096597 0.00004
NM_001267550.2(TTN):c.83733C>T (p.Ser27911=) rs375442124 0.00004
NM_001267550.2(TTN):c.84188G>A (p.Arg28063His) rs570847832 0.00004
NM_001267550.2(TTN):c.8640G>A (p.Glu2880=) rs879222360 0.00004
NM_001267550.2(TTN):c.86538A>T (p.Pro28846=) rs747423090 0.00004
NM_001267550.2(TTN):c.86910C>T (p.Gly28970=) rs397517736 0.00004
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=) rs375565646 0.00004
NM_001267550.2(TTN):c.87495C>T (p.Asp29165=) rs371763584 0.00004
NM_001267550.2(TTN):c.88513C>T (p.Arg29505Cys) rs372360369 0.00004
NM_001267550.2(TTN):c.89906T>C (p.Val29969Ala) rs201220828 0.00004
NM_001267550.2(TTN):c.90237C>T (p.His30079=) rs756663688 0.00004
NM_001267550.2(TTN):c.9050G>A (p.Arg3017Lys) rs372303620 0.00004
NM_001267550.2(TTN):c.90748G>A (p.Glu30250Lys) rs200651247 0.00004
NM_001267550.2(TTN):c.90786C>T (p.Ile30262=) rs727504439 0.00004
NM_001267550.2(TTN):c.91749C>T (p.Ser30583=) rs886044458 0.00004
NM_001267550.2(TTN):c.9402C>T (p.Asn3134=) rs587780987 0.00004
NM_001267550.2(TTN):c.9443G>A (p.Arg3148His) rs368786036 0.00004
NM_001267550.2(TTN):c.94664G>A (p.Arg31555His) rs727503545 0.00004
NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met) rs375640847 0.00004
NM_001267550.2(TTN):c.96225T>A (p.Val32075=) rs752745266 0.00004
NM_001267550.2(TTN):c.9827A>G (p.Glu3276Gly) rs377049518 0.00004
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser) rs367979582 0.00004
NM_001278116.2(L1CAM):c.386G>A (p.Arg129Gln) rs200809259 0.00004
NM_001286577.2(C2CD3):c.3929T>C (p.Ile1310Thr) rs757220593 0.00004
NM_001297.5(CNGB1):c.291-5C>T rs372308762 0.00004
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile) rs199655686 0.00004
NM_001298.3(CNGA3):c.1687C>T (p.Arg563Cys) rs150153987 0.00004
NM_001319074.4(RAX2):c.91C>T (p.Arg31Cys) rs200153795 0.00004
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=) rs140332992 0.00004
NM_001330260.2(SCN8A):c.402T>C (p.Phe134=) rs559668426 0.00004
NM_001349206.2(LPIN1):c.2282G>A (p.Arg761His) rs398124543 0.00004
NM_001349338.3(FOXP1):c.1383C>T (p.Asn461=) rs372403441 0.00004
NM_001353214.3(DYM):c.1344A>G (p.Gln448=) rs77902523 0.00004
NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys) rs547012639 0.00004
NM_001360.3(DHCR7):c.1091C>T (p.Thr364Met) rs567600444 0.00004
NM_001360016.2(G6PD):c.1329C>T (p.Asp443=) rs138919671 0.00004
NM_001369268.1(ACAN):c.1527G>A (p.Ser509=) rs371049725 0.00004
NM_001370658.1(BTD):c.1536G>A (p.Thr512=) rs774052068 0.00004
NM_001374353.1(GLI2):c.606C>T (p.Ser202=) rs146181686 0.00004
NM_001374385.1(ATP8B1):c.1659C>T (p.Pro553=) rs761202112 0.00004
NM_001374385.1(ATP8B1):c.1754A>G (p.Glu585Gly) rs35238397 0.00004
NM_001374385.1(ATP8B1):c.2100C>T (p.Leu700=) rs747771646 0.00004
NM_001374385.1(ATP8B1):c.3201C>T (p.Ser1067=) rs777459332 0.00004
NM_001378120.1(MBD5):c.796A>G (p.Ile266Val) rs568826753 0.00004
NM_001378120.1(MBD5):c.980T>C (p.Met327Thr) rs776228346 0.00004
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=) rs750087396 0.00004
NM_001378615.1(CC2D2A):c.1116C>A (p.Ser372Arg) rs760839591 0.00004
NM_001378615.1(CC2D2A):c.3501C>T (p.Asp1167=) rs779304750 0.00004
NM_001378615.1(CC2D2A):c.4340A>C (p.Glu1447Ala) rs387907058 0.00004
NM_001379081.2(FREM1):c.3932T>C (p.Ile1311Thr) rs182527895 0.00004
NM_001379110.1(SLC9A6):c.2021C>T (p.Thr674Met) rs886044780 0.00004
NM_001384140.1(PCDH15):c.3717+10T>C rs376158566 0.00004
NM_001384474.1(LOXHD1):c.3061+8G>T rs764128579 0.00004
NM_001429.4(EP300):c.2419A>G (p.Ile807Val) rs201054979 0.00004
NM_001429.4(EP300):c.4347T>C (p.His1449=) rs137986257 0.00004
NM_001453.3(FOXC1):c.474C>T (p.Ser158=) rs369346224 0.00004
NM_001457.4(FLNB):c.1303G>A (p.Asp435Asn) rs781162510 0.00004
NM_001457.4(FLNB):c.6003C>T (p.Asp2001=) rs184065600 0.00004
NM_001793.6(CDH3):c.1011G>C (p.Val337=) rs201726457 0.00004
NM_001844.5(COL2A1):c.3842G>A (p.Arg1281His) rs763097721 0.00004
NM_001848.3(COL6A1):c.1575C>T (p.Pro525=) rs781031251 0.00004
NM_001848.3(COL6A1):c.1656C>T (p.Ala552=) rs377213930 0.00004
NM_001848.3(COL6A1):c.2109G>A (p.Thr703=) rs760649238 0.00004
NM_001848.3(COL6A1):c.2148G>A (p.Pro716=) rs780032842 0.00004
NM_001848.3(COL6A1):c.2610C>T (p.Asp870=) rs759989949 0.00004
NM_001849.4(COL6A2):c.1817-8C>A rs750444649 0.00004
NM_001849.4(COL6A2):c.219C>T (p.Phe73=) rs374336669 0.00004
NM_001849.4(COL6A2):c.2490G>A (p.Arg830=) rs748047522 0.00004
NM_001849.4(COL6A2):c.735+7G>A rs575365107 0.00004
NM_001853.4(COL9A3):c.1538C>T (p.Pro513Leu) rs202094480 0.00004
NM_001854.4(COL11A1):c.4377C>T (p.Gly1459=) rs917541931 0.00004
NM_001854.4(COL11A1):c.510C>T (p.Ser170=) rs749497678 0.00004
NM_001927.4(DES):c.1158C>T (p.Arg386=) rs774323736 0.00004
NM_001927.4(DES):c.63C>T (p.Ala21=) rs201458068 0.00004
NM_001966.4(EHHADH):c.144T>C (p.Ile48=) rs370127523 0.00004
NM_001966.4(EHHADH):c.919A>G (p.Thr307Ala) rs185950214 0.00004
NM_001999.4(FBN2):c.2555-6T>C rs376507178 0.00004
NM_002109.6(HARS1):c.694C>T (p.Arg232Cys) rs186526524 0.00004
NM_002180.3(IGHMBP2):c.1737C>T (p.Phe579=) rs368775789 0.00004
NM_002397.5(MEF2C):c.1332C>T (p.His444=) rs376439815 0.00004
NM_002458.3(MUC5B):c.17016C>T (p.Cys5672=) rs368986524 0.00004
NM_002473.6(MYH9):c.3214G>A (p.Ala1072Thr) rs532156048 0.00004
NM_002473.6(MYH9):c.4150G>C (p.Glu1384Gln) rs200616409 0.00004
NM_002474.3(MYH11):c.503-9T>C rs554607161 0.00004
NM_002485.5(NBN):c.1089C>T (p.Tyr363=) rs121908974 0.00004
NM_002693.3(POLG):c.2487C>T (p.Pro829=) rs147563527 0.00004
NM_002693.3(POLG):c.2599-10C>T rs769346219 0.00004
NM_002693.3(POLG):c.2880C>T (p.Pro960=) rs752500492 0.00004
NM_002693.3(POLG):c.3222G>T (p.Val1074=) rs746773616 0.00004
NM_002693.3(POLG):c.3444C>T (p.Arg1148=) rs374937961 0.00004
NM_002900.3(RBP3):c.1581G>A (p.Pro527=) rs782233629 0.00004
NM_003049.4(SLC10A1):c.132C>A (p.Cys44Ter) rs200809908 0.00004
NM_003049.4(SLC10A1):c.517G>C (p.Gly173Arg) rs750470666 0.00004
NM_003482.4(KMT2D):c.10165A>G (p.Met3389Val) rs372740284 0.00004
NM_003482.4(KMT2D):c.10741-7A>G rs550510739 0.00004
NM_003482.4(KMT2D):c.1075C>T (p.Arg359Cys) rs372085797 0.00004
NM_003482.4(KMT2D):c.12039A>G (p.Gly4013=) rs567323882 0.00004
NM_003482.4(KMT2D):c.12712C>T (p.Arg4238Cys) rs398123714 0.00004
NM_003482.4(KMT2D):c.1488G>A (p.Pro496=) rs534236560 0.00004
NM_003482.4(KMT2D):c.2368C>T (p.Pro790Ser) rs376911077 0.00004
NM_003482.4(KMT2D):c.7571C>T (p.Thr2524Met) rs760263014 0.00004
NM_003630.3(PEX3):c.818+3A>G rs975195178 0.00004
NM_003659.4(AGPS):c.1335C>T (p.Asp445=) rs200039061 0.00004
NM_003673.4(TCAP):c.447C>T (p.Pro149=) rs45614332 0.00004
NM_003742.4(ABCB11):c.2908C>T (p.Pro970Ser) rs779096015 0.00004
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395 0.00004
NM_003742.4(ABCB11):c.711G>A (p.Arg237=) rs765070028 0.00004
NM_003839.4(TNFRSF11A):c.1515G>A (p.Ala505=) rs374310569 0.00004
NM_003846.3(PEX11B):c.374+9T>C rs200094067 0.00004
NM_003846.3(PEX11B):c.458G>A (p.Cys153Tyr) rs201973197 0.00004
NM_003846.3(PEX11B):c.510T>G (p.Thr170=) rs782275834 0.00004
NM_004006.3(DMD):c.10128A>G (p.Leu3376=) rs755438733 0.00004
NM_004006.3(DMD):c.1159A>G (p.Met387Val) rs770202940 0.00004
NM_004006.3(DMD):c.1518G>T (p.Arg506Ser) rs755456119 0.00004
NM_004006.3(DMD):c.1603-6C>T rs774626474 0.00004
NM_004006.3(DMD):c.1848C>A (p.Ser616=) rs376024929 0.00004
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln) rs781015830 0.00004
NM_004006.3(DMD):c.3217G>A (p.Glu1073Lys) rs398123931 0.00004
NM_004006.3(DMD):c.4275A>G (p.Glu1425=) rs72468647 0.00004
NM_004006.3(DMD):c.5464G>A (p.Gly1822Ser) rs766746479 0.00004
NM_004006.3(DMD):c.618A>G (p.Gln206=) rs727503865 0.00004
NM_004006.3(DMD):c.7130C>T (p.Pro2377Leu) rs201262489 0.00004
NM_004006.3(DMD):c.9091G>A (p.Val3031Ile) rs143426249 0.00004
NM_004006.3(DMD):c.9198G>A (p.Ser3066=) rs753594128 0.00004
NM_004006.3(DMD):c.9987A>G (p.Leu3329=) rs145595228 0.00004
NM_004187.5(KDM5C):c.25C>T (p.Leu9=) rs782183376 0.00004
NM_004369.4(COL6A3):c.285G>A (p.Thr95=) rs373435541 0.00004
NM_004369.4(COL6A3):c.4848C>T (p.Ser1616=) rs200948078 0.00004
NM_004369.4(COL6A3):c.6312C>T (p.Gly2104=) rs377074792 0.00004
NM_004369.4(COL6A3):c.7551C>T (p.Asn2517=) rs570963533 0.00004
NM_004369.4(COL6A3):c.8567+2dup rs776144262 0.00004
NM_004369.4(COL6A3):c.9345G>A (p.Pro3115=) rs748814297 0.00004
NM_004380.3(CREBBP):c.1275T>C (p.His425=) rs758886547 0.00004
NM_004380.3(CREBBP):c.2112A>G (p.Pro704=) rs398124142 0.00004
NM_004380.3(CREBBP):c.423T>G (p.Ser141=) rs760605470 0.00004
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=) rs750845399 0.00004
NM_004380.3(CREBBP):c.711C>T (p.Ser237=) rs146049063 0.00004
NM_004393.6(DAG1):c.219C>T (p.Val73=) rs145165301 0.00004
NM_004393.6(DAG1):c.222C>T (p.Val74=) rs150727558 0.00004
NM_004463.3(FGD1):c.2786C>T (p.Pro929Leu) rs727503925 0.00004
NM_004482.4(GALNT3):c.1392+7T>G rs779970449 0.00004
NM_004562.3(PRKN):c.1000C>T (p.Arg334Cys) rs199657839 0.00004
NM_004565.3(PEX14):c.330C>T (p.Gly110=) rs772527603 0.00004
NM_004656.4(BAP1):c.1227G>C (p.Val409=) rs201203425 0.00004
NM_004817.4(TJP2):c.1629G>A (p.Ser543=) rs771239031 0.00004
NM_004817.4(TJP2):c.2751C>T (p.Arg917=) rs184519036 0.00004
NM_004817.4(TJP2):c.3183T>G (p.Gly1061=) rs749387422 0.00004
NM_004817.4(TJP2):c.848G>A (p.Arg283Gln) rs748102718 0.00004
NM_004820.5(CYP7B1):c.1476G>A (p.Gln492=) rs372800597 0.00004
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00004
NM_005249.5(FOXG1):c.1045T>G (p.Ser349Ala) rs796052472 0.00004
NM_005422.4(TECTA):c.1685C>T (p.Thr562Met) rs779401654 0.00004
NM_005422.4(TECTA):c.2288C>T (p.Pro763Leu) rs151296951 0.00004
NM_005422.4(TECTA):c.5826C>A (p.Tyr1942Ter) rs955468054 0.00004
NM_005476.7(GNE):c.1908G>A (p.Ala636=) rs200812140 0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939 0.00004
NM_005529.7(HSPG2):c.11046C>T (p.Ala3682=) rs149466423 0.00004
NM_005529.7(HSPG2):c.2847G>A (p.Glu949=) rs773662857 0.00004
NM_005529.7(HSPG2):c.5646G>A (p.Leu1882=) rs533624001 0.00004
NM_005529.7(HSPG2):c.5934G>A (p.Arg1978=) rs557762861 0.00004
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg) rs398124209 0.00004
NM_005989.4(AKR1D1):c.60C>T (p.Ile20=) rs756630815 0.00004
NM_005989.4(AKR1D1):c.723T>C (p.Asp241=) rs200829661 0.00004
NM_006005.3(WFS1):c.1743C>T (p.Gly581=) rs377539343 0.00004
NM_006005.3(WFS1):c.1801G>A (p.Val601Met) rs147838635 0.00004
NM_006031.6(PCNT):c.1246A>G (p.Ile416Val) rs368199588 0.00004
NM_006031.6(PCNT):c.1281C>T (p.His427=) rs142413458 0.00004
NM_006031.6(PCNT):c.6261G>A (p.Gln2087=) rs181127717 0.00004
NM_006279.5(ST3GAL3):c.660C>T (p.Tyr220=) rs201204481 0.00004
NM_006445.4(PRPF8):c.3045C>T (p.Val1015=) rs770535800 0.00004
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val) rs769943554 0.00004
NM_006516.4(SLC2A1):c.179C>T (p.Thr60Met) rs142986731 0.00004
NM_006516.4(SLC2A1):c.321C>T (p.Ala107=) rs398124230 0.00004
NM_006516.4(SLC2A1):c.906G>T (p.Gly302=) rs55693364 0.00004
NM_006662.3(SRCAP):c.5610C>T (p.Pro1870=) rs141985098 0.00004
NM_006922.4(SCN3A):c.295A>G (p.Ile99Val) rs200538599 0.00004
NM_006922.4(SCN3A):c.474-4C>T rs371709966 0.00004
NM_006946.4(SPTBN2):c.3112G>A (p.Ala1038Thr) rs549918589 0.00004
NM_007126.5(VCP):c.1242G>A (p.Leu414=) rs375262833 0.00004
NM_007294.4(BRCA1):c.425C>A (p.Pro142His) rs55971303 0.00004
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr) rs80357013 0.00004
NM_012210.4(TRIM32):c.1134C>T (p.Tyr378=) rs776448126 0.00004
NM_012210.4(TRIM32):c.201T>C (p.Ile67=) rs780799984 0.00004
NM_012210.4(TRIM32):c.339G>C (p.Arg113=) rs150477945 0.00004
NM_012210.4(TRIM32):c.501G>A (p.Lys167=) rs200085883 0.00004
NM_012254.3(SLC27A5):c.225C>T (p.Leu75=) rs372436444 0.00004
NM_013382.7(POMT2):c.1017C>T (p.Tyr339=) rs1026361359 0.00004
NM_014000.3(VCL):c.2652G>A (p.Glu884=) rs371187988 0.00004
NM_014014.5(SNRNP200):c.4728C>T (p.Ile1576=) rs377641548 0.00004
NM_014141.6(CNTNAP2):c.237C>T (p.Ser79=) rs145162968 0.00004
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884 0.00004
NM_014324.6(AMACR):c.1011C>T (p.Ile337=) rs779290495 0.00004
NM_014425.5(INVS):c.1107T>C (p.His369=) rs760637052 0.00004
NM_014639.4(SKIC3):c.3710C>T (p.Ala1237Val) rs557540994 0.00004
NM_014714.4(IFT140):c.3210G>A (p.Ala1070=) rs372233286 0.00004
NM_014780.5(CUL7):c.156C>T (p.Asp52=) rs368209176 0.00004
NM_014795.4(ZEB2):c.374C>T (p.Thr125Met) rs727504227 0.00004
NM_015102.5(NPHP4):c.1653C>T (p.Ala551=) rs751732786 0.00004
NM_015102.5(NPHP4):c.1764-5C>T rs370899989 0.00004
NM_015102.5(NPHP4):c.267C>T (p.Ile89=) rs372171438 0.00004
NM_015272.5(RPGRIP1L):c.1401+4A>G rs727503880 0.00004
NM_015295.3(SMCHD1):c.288C>T (p.Thr96=) rs369550628 0.00004
NM_015295.3(SMCHD1):c.321A>G (p.Leu107=) rs567120742 0.00004
NM_015311.3(OBSL1):c.4122C>T (p.Gly1374=) rs374001837 0.00004
NM_015338.6(ASXL1):c.1249C>T (p.Arg417Ter) rs375215583 0.00004
NM_015404.4(WHRN):c.1417-8G>A rs202228471 0.00004
NM_015404.4(WHRN):c.2203G>A (p.Val735Ile) rs373552185 0.00004
NM_015404.4(WHRN):c.933A>C (p.Pro311=) rs569159249 0.00004
NM_016239.4(MYO15A):c.5193C>T (p.Phe1731=) rs767426819 0.00004
NM_016239.4(MYO15A):c.6623C>T (p.Pro2208Leu) rs376939609 0.00004
NM_016239.4(MYO15A):c.6729G>A (p.Thr2243=) rs531965733 0.00004
NM_016239.4(MYO15A):c.9518-10G>A rs570587230 0.00004
NM_016356.5(DCDC2):c.1199G>A (p.Arg400His) rs771591530 0.00004
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869 0.00004
NM_017739.4(POMGNT1):c.1476C>A (p.Ile492=) rs375432782 0.00004
NM_017777.4(MKS1):c.1273+6C>T rs371480628 0.00004
NM_017777.4(MKS1):c.1274-4G>A rs377033778 0.00004
NM_017780.4(CHD7):c.1170T>C (p.Tyr390=) rs554737227 0.00004
NM_017780.4(CHD7):c.5115G>A (p.Pro1705=) rs191081055 0.00004
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=) rs528130317 0.00004
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=) rs188188906 0.00004
NM_018006.5(TRMU):c.1218C>T (p.Ser406=) rs754239335 0.00004
NM_018006.5(TRMU):c.30C>T (p.Ala10=) rs776692221 0.00004
NM_018006.5(TRMU):c.429C>T (p.His143=) rs746421213 0.00004
NM_018136.5(ASPM):c.3726A>G (p.Thr1242=) rs376539395 0.00004
NM_018136.5(ASPM):c.6550C>T (p.Arg2184Trp) rs138727741 0.00004
NM_020223.4(FAM20C):c.795G>A (p.Ser265=) rs766106805 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr) rs121908372 0.00004
NM_020631.6(PLEKHG5):c.753C>T (p.Ser251=) rs556687525 0.00004
NM_020754.4(ARHGAP31):c.3255C>T (p.Pro1085=) rs372301689 0.00004
NM_020754.4(ARHGAP31):c.3461C>T (p.Pro1154Leu) rs772715426 0.00004
NM_021830.5(TWNK):c.1827C>A (p.Arg609=) rs146601680 0.00004
NM_021939.4(FKBP10):c.315C>T (p.Gly105=) rs373064272 0.00004
NM_022081.6(HPS4):c.13A>G (p.Thr5Ala) rs570371168 0.00004
NM_022124.6(CDH23):c.1719C>T (p.Asn573=) rs761913744 0.00004
NM_022124.6(CDH23):c.6098C>T (p.Ser2033Leu) rs537971045 0.00004
NM_022436.3(ABCG5):c.1398C>T (p.Ala466=) rs373514009 0.00004
NM_022436.3(ABCG5):c.1570G>A (p.Val524Ile) rs200839584 0.00004
NM_022436.3(ABCG5):c.915G>A (p.Thr305=) rs773296588 0.00004
NM_022437.3(ABCG8):c.15G>A (p.Ala5=) rs200951677 0.00004
NM_022437.3(ABCG8):c.331A>C (p.Arg111=) rs752358589 0.00004
NM_022437.3(ABCG8):c.369C>T (p.His123=) rs139859350 0.00004
NM_022455.5(NSD1):c.2350C>G (p.Gln784Glu) rs374740802 0.00004
NM_022455.5(NSD1):c.5635A>G (p.Ile1879Val) rs746599803 0.00004
NM_023036.6(DNAI2):c.933G>A (p.Lys311=) rs570168701 0.00004
NM_024009.3(GJB3):c.499G>A (p.Val167Met) rs376748531 0.00004
NM_024301.5(FKRP):c.1236C>T (p.His412=) rs201076863 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_024408.4(NOTCH2):c.4740G>A (p.Lys1580=) rs367699419 0.00004
NM_024408.4(NOTCH2):c.5958T>C (p.Ala1986=) rs563486507 0.00004
NM_024408.4(NOTCH2):c.7263T>A (p.Ser2421=) rs369912969 0.00004
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg) rs139290300 0.00004
NM_024649.5(BBS1):c.48-9C>A rs765571574 0.00004
NM_024757.5(EHMT1):c.3401G>A (p.Arg1134Gln) rs373174786 0.00004
NM_024757.5(EHMT1):c.529G>C (p.Ala177Pro) rs182595609 0.00004
NM_024757.5(EHMT1):c.589G>A (p.Asp197Asn) rs774174988 0.00004
NM_025074.7(FRAS1):c.9450G>T (p.Val3150=) rs372168929 0.00004
NM_030662.4(MAP2K2):c.648C>T (p.Ser216=) rs147276536 0.00004
NM_030665.4(RAI1):c.2074G>A (p.Val692Met) rs398124415 0.00004
NM_030665.4(RAI1):c.2220C>T (p.Ser740=) rs149807469 0.00004
NM_030665.4(RAI1):c.3143C>A (p.Ala1048Asp) rs758990336 0.00004
NM_030665.4(RAI1):c.719C>T (p.Thr240Ile) rs142646842 0.00004
NM_031220.4(PITPNM3):c.747G>A (p.Lys249=) rs371282530 0.00004
NM_031407.7(HUWE1):c.2570C>T (p.Pro857Leu) rs782526786 0.00004
NM_032119.4(ADGRV1):c.12463C>T (p.Pro4155Ser) rs576429729 0.00004
NM_032119.4(ADGRV1):c.12464C>T (p.Pro4155Leu) rs765063091 0.00004
NM_032119.4(ADGRV1):c.12682A>G (p.Ile4228Val) rs532836800 0.00004
NM_032119.4(ADGRV1):c.14970C>A (p.Leu4990=) rs368420512 0.00004
NM_032119.4(ADGRV1):c.15145G>A (p.Ala5049Thr) rs376376418 0.00004
NM_032119.4(ADGRV1):c.17388G>A (p.Gln5796=) rs183208875 0.00004
NM_032119.4(ADGRV1):c.1801G>T (p.Asp601Tyr) rs375085032 0.00004
NM_032119.4(ADGRV1):c.2543G>A (p.Gly848Glu) rs959132080 0.00004
NM_032119.4(ADGRV1):c.3819G>A (p.Arg1273=) rs764738838 0.00004
NM_032119.4(ADGRV1):c.4714A>G (p.Asn1572Asp) rs370432538 0.00004
NM_032119.4(ADGRV1):c.5537T>C (p.Val1846Ala) rs756062421 0.00004
NM_032119.4(ADGRV1):c.6338A>G (p.Asn2113Ser) rs201579557 0.00004
NM_032273.4(TMEM126A):c.531A>G (p.Gln177=) rs369467944 0.00004
NM_033337.3(CAV3):c.201C>A (p.Val67=) rs201593267 0.00004
NM_033337.3(CAV3):c.384C>T (p.Phe128=) rs773934743 0.00004
NM_033360.4(KRAS):c.93A>G (p.Glu31=) rs377354475 0.00004
NM_057176.3(BSND):c.744G>A (p.Thr248=) rs754819005 0.00004
NM_058246.4(DNAJB6):c.276A>G (p.Thr92=) rs765815570 0.00004
NM_080680.3(COL11A2):c.12C>T (p.Cys4=) rs914781832 0.00004
NM_080680.3(COL11A2):c.1451C>T (p.Ala484Val) rs143965711 0.00004
NM_080680.3(COL11A2):c.2841C>T (p.Pro947=) rs565891154 0.00004
NM_080680.3(COL11A2):c.2932G>A (p.Asp978Asn) rs772537556 0.00004
NM_080680.3(COL11A2):c.4676G>A (p.Arg1559Gln) rs774845879 0.00004
NM_130837.3(OPA1):c.2520+13A>G rs371943802 0.00004
NM_130839.5(UBE3A):c.1728G>A (p.Val576=) rs749731066 0.00004
NM_133379.5(TTN):c.14526T>A (p.Asn4842Lys) rs776361113 0.00004
NM_133433.4(NIPBL):c.1988A>C (p.Gln663Pro) rs149892167 0.00004
NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val) rs777976050 0.00004
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr) rs753307105 0.00004
NM_144573.4(NEXN):c.249G>A (p.Glu83=) rs372532824 0.00004
NM_144672.4(OTOA):c.462C>T (p.Gly154=) rs767974412 0.00004
NM_145200.5(CABP4):c.187G>A (p.Gly63Ser) rs767502632 0.00004
NM_145239.3(PRRT2):c.224C>T (p.Pro75Leu) rs147004110 0.00004
NM_145239.3(PRRT2):c.352G>A (p.Ala118Thr) rs201636905 0.00004
NM_145691.4(ATPAF2):c.241G>A (p.Val81Ile) rs371136012 0.00004
NM_152564.5(VPS13B):c.1296A>G (p.Thr432=) rs765163542 0.00004
NM_152564.5(VPS13B):c.2825-4T>A rs201354177 0.00004
NM_152564.5(VPS13B):c.4950-9A>G rs373474658 0.00004
NM_153240.5(NPHP3):c.1083T>C (p.Ser361=) rs781244729 0.00004
NM_153240.5(NPHP3):c.3609T>C (p.Ala1203=) rs747847543 0.00004
NM_153252.5(BRWD3):c.4309G>A (p.Ala1437Thr) rs767555361 0.00004
NM_170699.3(GPBAR1):c.321C>T (p.His107=) rs199941566 0.00004
NM_170699.3(GPBAR1):c.528C>T (p.Pro176=) rs202154681 0.00004
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys) rs374726751 0.00004
NM_170707.4(LMNA):c.1311C>T (p.Ser437=) rs763224059 0.00004
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser) rs372011095 0.00004
NM_170707.4(LMNA):c.1580G>A (p.Arg527His) rs57520892 0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_170707.4(LMNA):c.726G>A (p.Ala242=) rs763625309 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143 0.00004
NM_182746.3(MCM4):c.1800+8G>A rs890413153 0.00004
NM_182914.3(SYNE2):c.9430C>T (p.Leu3144Phe) rs886044254 0.00004
NM_182961.4(SYNE1):c.10257T>C (p.His3419=) rs147631683 0.00004
NM_182961.4(SYNE1):c.1125C>T (p.Asp375=) rs569973824 0.00004
NM_182961.4(SYNE1):c.1497C>T (p.His499=) rs758555741 0.00004
NM_182961.4(SYNE1):c.15451G>A (p.Val5151Met) rs199996504 0.00004
NM_182961.4(SYNE1):c.16278G>A (p.Thr5426=) rs779112403 0.00004
NM_182961.4(SYNE1):c.19188C>T (p.Asp6396=) rs369626489 0.00004
NM_182961.4(SYNE1):c.3670-4A>G rs377058395 0.00004
NM_182961.4(SYNE1):c.4610G>A (p.Arg1537Gln) rs369775705 0.00004
NM_182961.4(SYNE1):c.462C>T (p.Ser154=) rs761939786 0.00004
NM_182961.4(SYNE1):c.4992A>G (p.Leu1664=) rs187410988 0.00004
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys) rs398124579 0.00004
NM_198506.5(LRIT3):c.1467C>T (p.Asn489=) rs369821286 0.00004
NM_198999.3(SLC26A5):c.1828G>A (p.Glu610Lys) rs148538056 0.00004
NM_201384.3(PLEC):c.10729G>A (p.Gly3577Ser) rs782299720 0.00004
NM_201384.3(PLEC):c.11421C>T (p.Gly3807=) rs782144786 0.00004
NM_201384.3(PLEC):c.12978C>T (p.Thr4326=) rs781832846 0.00004
NM_201384.3(PLEC):c.13596C>T (p.Ala4532=) rs781917029 0.00004
NM_201384.3(PLEC):c.2580G>A (p.Pro860=) rs782468518 0.00004
NM_201384.3(PLEC):c.3009C>T (p.Thr1003=) rs376276993 0.00004
NM_201384.3(PLEC):c.4137C>T (p.His1379=) rs782222813 0.00004
NM_201384.3(PLEC):c.4218G>A (p.Glu1406=) rs782584192 0.00004
NM_201384.3(PLEC):c.6312G>A (p.Ala2104=) rs782048792 0.00004
NM_201384.3(PLEC):c.6343G>A (p.Glu2115Lys) rs782713908 0.00004
NM_201384.3(PLEC):c.6642G>A (p.Ala2214=) rs559736151 0.00004
NM_201384.3(PLEC):c.7592G>A (p.Arg2531His) rs369729231 0.00004
NM_201384.3(PLEC):c.7667G>A (p.Arg2556Gln) rs782640329 0.00004
NM_201384.3(PLEC):c.8577C>T (p.His2859=) rs200012425 0.00004
NM_201384.3(PLEC):c.9023G>A (p.Arg3008Gln) rs200176579 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met) rs201238640 0.00004
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00004
NM_206933.4(USH2A):c.8856C>T (p.Asp2952=) rs149306655 0.00004
NM_213599.3(ANO5):c.2521C>G (p.His841Asp) rs781027702 0.00004
NC_000002.12:g.178605717T>C rs772324772 0.00003
NM_000016.6(ACADM):c.388-14A>G rs372525651 0.00003
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys) rs778906552 0.00003
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro) rs143962150 0.00003
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys) rs28940287 0.00003
NM_000051.4(ATM):c.6234C>T (p.Ser2078=) rs569483748 0.00003
NM_000051.4(ATM):c.6465G>A (p.Val2155=) rs140423883 0.00003
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=) rs570594838 0.00003
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942 0.00003
NM_000071.3(CBS):c.435G>A (p.Pro145=) rs148782895 0.00003
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953 0.00003
NM_000088.4(COL1A1):c.3258C>T (p.Pro1086=) rs200319927 0.00003
NM_000090.4(COL3A1):c.2550T>C (p.Pro850=) rs794727586 0.00003
NM_000093.5(COL5A1):c.3428C>T (p.Pro1143Leu) rs540131206 0.00003
NM_000113.3(TOR1A):c.990C>T (p.Tyr330=) rs148849547 0.00003
NM_000117.3(EMD):c.243C>T (p.Asp81=) rs150757295 0.00003
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser) rs762400500 0.00003
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg) rs199682686 0.00003
NM_000138.5(FBN1):c.6189G>A (p.Ala2063=) rs375624881 0.00003
NM_000142.5(FGFR3):c.1002C>T (p.Ala334=) rs376787929 0.00003
NM_000142.5(FGFR3):c.1596C>T (p.Ile532=) rs528979086 0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000152.5(GAA):c.1326+1G>A rs1205507761 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg) rs759292700 0.00003
NM_000152.5(GAA):c.2190-4G>A rs759974338 0.00003
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984 0.00003
NM_000152.5(GAA):c.2739C>G (p.Pro913=) rs370765733 0.00003
NM_000152.5(GAA):c.351G>A (p.Leu117=) rs574947353 0.00003
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039 0.00003
NM_000157.4(GBA1):c.437C>T (p.Ser146Leu) rs758447515 0.00003
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg) rs61748906 0.00003
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) rs567564095 0.00003
NM_000169.3(GLA):c.714T>C (p.Ser238=) rs397515872 0.00003
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021 0.00003
NM_000214.3(JAG1):c.3038A>T (p.His1013Leu) rs758687380 0.00003
NM_000235.4(LIPA):c.846A>G (p.Thr282=) rs534838107 0.00003
NM_000238.4(KCNH2):c.1067G>A (p.Arg356His) rs730880118 0.00003
NM_000256.3(MYBPC3):c.1790+7G>A rs374852831 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys) rs550562774 0.00003
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175 0.00003
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181 0.00003
NM_000283.4(PDE6B):c.299G>A (p.Arg100His) rs555600300 0.00003
NM_000286.3(PEX12):c.126+1G>T rs144259891 0.00003
NM_000288.4(PEX7):c.576C>T (p.Ile192=) rs776411851 0.00003
NM_000307.5(POU3F4):c.588G>C (p.Gln196His) rs770776910 0.00003
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000316.3(PTH1R):c.1728T>C (p.Ser576=) rs201013164 0.00003
NM_000326.5(RLBP1):c.25C>T (p.Arg9Cys) rs775252439 0.00003
NM_000330.4(RS1):c.234G>A (p.Pro78=) rs183092299 0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_000362.5(TIMP3):c.459G>A (p.Leu153=) rs757458960 0.00003
NM_000368.5(TSC1):c.1218C>T (p.Tyr406=) rs373465241 0.00003
NM_000370.3(TTPA):c.553-6C>T rs761911043 0.00003
NM_000382.3(ALDH3A2):c.1267C>T (p.Arg423Cys) rs370654268 0.00003
NM_000391.4(TPP1):c.887-18A>G rs935526225 0.00003
NM_000392.5(ABCC2):c.1177C>T (p.Arg393Trp) rs777902199 0.00003
NM_000392.5(ABCC2):c.2747+10C>T rs772329652 0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342 0.00003
NM_000414.4(HSD17B4):c.1327A>T (p.Met443Leu) rs201767875 0.00003
NM_000426.4(LAMA2):c.5688C>T (p.His1896=) rs573779258 0.00003
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_000443.4(ABCB4):c.2295T>C (p.Ser765=) rs371013005 0.00003
NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser) rs121918442 0.00003
NM_000443.4(ABCB4):c.525G>A (p.Thr175=) rs558416191 0.00003
NM_000460.4(THPO):c.183G>T (p.Leu61=) rs200666378 0.00003
NM_000478.6(ALPL):c.1479C>T (p.Asn493=) rs759758484 0.00003
NM_000478.6(ALPL):c.673T>C (p.Tyr225His) rs759125473 0.00003
NM_000487.6(ARSA):c.677C>T (p.Ala226Val) rs74315468 0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_000492.4(CFTR):c.2736G>A (p.Ser912=) rs200901072 0.00003
NM_000492.4(CFTR):c.2813T>G (p.Val938Gly) rs193922511 0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_000516.7(GNAS):c.102G>A (p.Lys34=) rs1177100316 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000521.4(HEXB):c.1478T>G (p.Val493Gly) rs794727049 0.00003
NM_000540.3(RYR1):c.13369A>T (p.Met4457Leu) rs867851900 0.00003
NM_000540.3(RYR1):c.5120G>A (p.Arg1707His) rs371566475 0.00003
NM_000540.3(RYR1):c.7771C>G (p.Arg2591Gly) rs193922822 0.00003
NM_000540.3(RYR1):c.9624G>T (p.Pro3208=) rs552470353 0.00003
NM_000540.3(RYR1):c.9723C>T (p.Pro3241=) rs199828145 0.00003
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) rs120074122 0.00003
NM_000548.5(TSC2):c.299C>T (p.Ala100Val) rs375824753 0.00003
NM_000548.5(TSC2):c.493C>T (p.Leu165=) rs758521946 0.00003
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591 0.00003
NM_000719.7(CACNA1C):c.2396C>A (p.Ser799Tyr) rs398123519 0.00003
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=) rs754527651 0.00003
NM_000719.7(CACNA1C):c.50-3C>T rs780161540 0.00003
NM_000719.7(CACNA1C):c.5140G>A (p.Gly1714Ser) rs533676935 0.00003
NM_000719.7(CACNA1C):c.5307C>T (p.Asn1769=) rs530924728 0.00003
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) rs374528680 0.00003
NM_000784.4(CYP27A1):c.624C>T (p.Leu208=) rs200060245 0.00003
NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr) rs121434304 0.00003
NM_000875.5(IGF1R):c.1680G>A (p.Lys560=) rs754035007 0.00003
NM_000875.5(IGF1R):c.2745G>A (p.Ser915=) rs757589571 0.00003
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp) rs137853859 0.00003
NM_001025295.3(IFITM5):c.-10G>A rs770089325 0.00003
NM_001025295.3(IFITM5):c.8C>T (p.Thr3Met) rs376963969 0.00003
NM_001032382.2(PQBP1):c.492G>T (p.Gly164=) rs375706327 0.00003
NM_001034850.3(RETREG1):c.750G>T (p.Leu250=) rs767329180 0.00003
NM_001035.3(RYR2):c.12027C>T (p.Asn4009=) rs763374929 0.00003
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001040142.2(SCN2A):c.2673C>T (p.Ile891=) rs529842407 0.00003
NM_001042413.2(GLIS3):c.609G>A (p.Ser203=) rs148306701 0.00003
NM_001042432.2(CLN3):c.1198-5C>T rs764999720 0.00003
NM_001042472.3(ABHD12):c.317-10T>A rs768757901 0.00003
NM_001079802.2(FKTN):c.393G>A (p.Glu131=) rs1472560195 0.00003
NM_001079802.2(FKTN):c.402A>T (p.Gly134=) rs780921233 0.00003
NM_001079802.2(FKTN):c.911-8C>A rs749557617 0.00003
NM_001110556.2(FLNA):c.1242C>T (p.Gly414=) rs782598234 0.00003
NM_001110556.2(FLNA):c.4106C>T (p.Thr1369Ile) rs376774130 0.00003
NM_001110556.2(FLNA):c.6108G>A (p.Pro2036=) rs782221205 0.00003
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met) rs193922678 0.00003
NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=) rs749587119 0.00003
NM_001128178.3(NPHP1):c.330-4G>A rs774162169 0.00003
NM_001128225.3(SLC39A13):c.786+6C>T rs779162662 0.00003
NM_001130438.3(SPTAN1):c.7395C>T (p.Phe2465=) rs752878085 0.00003
NM_001130987.2(DYSF):c.1449+7C>T rs199608017 0.00003
NM_001130987.2(DYSF):c.2205C>T (p.Ile735=) rs754177085 0.00003
NM_001130987.2(DYSF):c.760-8G>C rs748159785 0.00003
NM_001142800.2(EYS):c.5645-8C>T rs886044616 0.00003
NM_001145809.2(MYH14):c.3884G>A (p.Arg1295Gln) rs377014092 0.00003
NM_001161352.2(KCNMA1):c.1680C>A (p.Ala560=) rs2229008 0.00003
NM_001164508.2(NEB):c.12018+1G>A rs762278237 0.00003
NM_001164508.2(NEB):c.18786C>T (p.Tyr6262=) rs374874999 0.00003
NM_001165963.4(SCN1A):c.144C>T (p.Gly48=) rs886043534 0.00003
NM_001170629.2(CHD8):c.5346A>G (p.Ala1782=) rs766317271 0.00003
NM_001177316.2(SLC34A3):c.978C>T (p.Ile326=) rs886044633 0.00003
NM_001193315.2(VIPAS39):c.1089+8C>G rs371371767 0.00003
NM_001193315.2(VIPAS39):c.15G>A (p.Lys5=) rs768593671 0.00003
NM_001193315.2(VIPAS39):c.246C>T (p.His82=) rs569525220 0.00003
NM_001197104.2(KMT2A):c.10690C>T (p.Arg3564Trp) rs555310772 0.00003
NM_001206979.2(NR1H4):c.1079-8C>T rs764238006 0.00003
NM_001252024.2(TRPM1):c.3070A>T (p.Ile1024Phe) rs369484186 0.00003
NM_001256317.3(TMPRSS3):c.1266C>T (p.Ile422=) rs372469227 0.00003
NM_001267550.2(TTN):c.100116C>T (p.Phe33372=) rs770089807 0.00003
NM_001267550.2(TTN):c.100534A>T (p.Asn33512Tyr) rs778965506 0.00003
NM_001267550.2(TTN):c.105182C>T (p.Ala35061Val) rs762136167 0.00003
NM_001267550.2(TTN):c.105374C>T (p.Thr35125Met) rs747161494 0.00003
NM_001267550.2(TTN):c.106827T>G (p.Ile35609Met) rs727504540 0.00003
NM_001267550.2(TTN):c.107450C>T (p.Ser35817Leu) rs766440492 0.00003
NM_001267550.2(TTN):c.12564C>A (p.Ala4188=) rs547338168 0.00003
NM_001267550.2(TTN):c.1288G>A (p.Val430Ile) rs371639583 0.00003
NM_001267550.2(TTN):c.1398+5G>A rs542965530 0.00003
NM_001267550.2(TTN):c.14339G>A (p.Ser4780Asn) rs147879266 0.00003
NM_001267550.2(TTN):c.14588G>A (p.Gly4863Glu) rs375680312 0.00003
NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter) rs886042995 0.00003
NM_001267550.2(TTN):c.16126C>A (p.Leu5376Met) rs72648936 0.00003
NM_001267550.2(TTN):c.17228G>A (p.Arg5743Gln) rs753892271 0.00003
NM_001267550.2(TTN):c.19728C>T (p.Phe6576=) rs751902051 0.00003
NM_001267550.2(TTN):c.19818A>G (p.Lys6606=) rs397517492 0.00003
NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn) rs747240394 0.00003
NM_001267550.2(TTN):c.2422C>T (p.Arg808Cys) rs149155733 0.00003
NM_001267550.2(TTN):c.24621C>T (p.Asp8207=) rs751733811 0.00003
NM_001267550.2(TTN):c.2605A>T (p.Thr869Ser) rs370962244 0.00003
NM_001267550.2(TTN):c.2650G>A (p.Ala884Thr) rs772195446 0.00003
NM_001267550.2(TTN):c.27350G>C (p.Arg9117Thr) rs375907742 0.00003
NM_001267550.2(TTN):c.28127C>G (p.Thr9376Arg) rs749875409 0.00003
NM_001267550.2(TTN):c.28262C>T (p.Thr9421Met) rs375209383 0.00003
NM_001267550.2(TTN):c.2998C>T (p.Leu1000Phe) rs140953779 0.00003
NM_001267550.2(TTN):c.30444G>A (p.Ser10148=) rs367901929 0.00003
NM_001267550.2(TTN):c.33742+1G>T rs772114165 0.00003
NM_001267550.2(TTN):c.33966G>A (p.Pro11322=) rs373083865 0.00003
NM_001267550.2(TTN):c.34675A>G (p.Ile11559Val) rs752903377 0.00003
NM_001267550.2(TTN):c.35083G>A (p.Glu11695Lys) rs376117402 0.00003
NM_001267550.2(TTN):c.35249T>C (p.Ile11750Thr) rs398124447 0.00003
NM_001267550.2(TTN):c.3670T>C (p.Leu1224=) rs764873258 0.00003
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp) rs199889888 0.00003
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter) rs727504198 0.00003
NM_001267550.2(TTN):c.41406C>T (p.Cys13802=) rs749356221 0.00003
NM_001267550.2(TTN):c.41703T>C (p.Thr13901=) rs756282138 0.00003
NM_001267550.2(TTN):c.44223G>A (p.Thr14741=) rs368830196 0.00003
NM_001267550.2(TTN):c.44987G>A (p.Arg14996His) rs762128685 0.00003
NM_001267550.2(TTN):c.45567C>T (p.Tyr15189=) rs1455525236 0.00003
NM_001267550.2(TTN):c.46221C>T (p.Asp15407=) rs370808856 0.00003
NM_001267550.2(TTN):c.4650G>A (p.Val1550=) rs915170239 0.00003
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met) rs368057764 0.00003
NM_001267550.2(TTN):c.47516T>C (p.Ile15839Thr) rs764388462 0.00003
NM_001267550.2(TTN):c.49395C>T (p.Asp16465=) rs749308557 0.00003
NM_001267550.2(TTN):c.49527A>G (p.Thr16509=) rs727505248 0.00003
NM_001267550.2(TTN):c.50077G>A (p.Val16693Ile) rs377141765 0.00003
NM_001267550.2(TTN):c.52006G>A (p.Val17336Ile) rs567781604 0.00003
NM_001267550.2(TTN):c.52242C>T (p.Pro17414=) rs765216874 0.00003
NM_001267550.2(TTN):c.53881+4C>T rs187632918 0.00003
NM_001267550.2(TTN):c.54054G>A (p.Lys18018=) rs761146363 0.00003
NM_001267550.2(TTN):c.55692T>A (p.Pro18564=) rs200864020 0.00003
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=) rs553313488 0.00003
NM_001267550.2(TTN):c.56960T>C (p.Ile18987Thr) rs373351577 0.00003
NM_001267550.2(TTN):c.5698G>A (p.Val1900Met) rs750823043 0.00003
NM_001267550.2(TTN):c.5741C>T (p.Ala1914Val) rs374203813 0.00003
NM_001267550.2(TTN):c.57777G>A (p.Ala19259=) rs376930907 0.00003
NM_001267550.2(TTN):c.58613C>A (p.Thr19538Lys) rs370686112 0.00003
NM_001267550.2(TTN):c.60008G>A (p.Arg20003His) rs756091180 0.00003
NM_001267550.2(TTN):c.62030T>C (p.Ile20677Thr) rs558670891 0.00003
NM_001267550.2(TTN):c.62468G>A (p.Arg20823His) rs758019778 0.00003
NM_001267550.2(TTN):c.62901T>C (p.Pro20967=) rs1245531460 0.00003
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) rs587780494 0.00003
NM_001267550.2(TTN):c.66650T>G (p.Phe22217Cys) rs764330098 0.00003
NM_001267550.2(TTN):c.6820C>G (p.Gln2274Glu) rs145649088 0.00003
NM_001267550.2(TTN):c.70044C>T (p.Ala23348=) rs771534964 0.00003
NM_001267550.2(TTN):c.72358C>T (p.Leu24120Phe) rs372309164 0.00003
NM_001267550.2(TTN):c.73765T>C (p.Tyr24589His) rs371821218 0.00003
NM_001267550.2(TTN):c.78993A>G (p.Arg26331=) rs745659756 0.00003
NM_001267550.2(TTN):c.80592A>G (p.Pro26864=) rs769223218 0.00003
NM_001267550.2(TTN):c.81250A>G (p.Ile27084Val) rs371498697 0.00003
NM_001267550.2(TTN):c.85389C>T (p.Leu28463=) rs144731702 0.00003
NM_001267550.2(TTN):c.86003T>C (p.Ile28668Thr) rs374022393 0.00003
NM_001267550.2(TTN):c.89295T>C (p.Ala29765=) rs375374658 0.00003
NM_001267550.2(TTN):c.89313C>T (p.Val29771=) rs746897918 0.00003
NM_001267550.2(TTN):c.89984T>C (p.Ile29995Thr) rs754676727 0.00003
NM_001267550.2(TTN):c.90180C>T (p.Ser30060=) rs1171957663 0.00003
NM_001267550.2(TTN):c.90198T>G (p.Val30066=) rs761842174 0.00003
NM_001267550.2(TTN):c.90332T>C (p.Leu30111Pro) rs368516973 0.00003
NM_001267550.2(TTN):c.92895C>T (p.Asn30965=) rs1379558944 0.00003
NM_001267550.2(TTN):c.94348C>T (p.Arg31450Cys) rs541040798 0.00003
NM_001267550.2(TTN):c.9610C>T (p.Arg3204Ter) rs757836789 0.00003
NM_001267550.2(TTN):c.96921T>C (p.Asp32307=) rs771385738 0.00003
NM_001267550.2(TTN):c.97442G>A (p.Gly32481Glu) rs201364164 0.00003
NM_001267550.2(TTN):c.97481G>A (p.Arg32494His) rs371645048 0.00003
NM_001267550.2(TTN):c.98098+3G>A rs556524594 0.00003
NM_001267550.2(TTN):c.98606G>A (p.Arg32869His) rs587780495 0.00003
NM_001267550.2(TTN):c.99536T>C (p.Val33179Ala) rs576759867 0.00003
NM_001267550.2(TTN):c.99840T>C (p.Asp33280=) rs375178211 0.00003
NM_001278116.2(L1CAM):c.2308G>A (p.Asp770Asn) rs148516831 0.00003
NM_001287.6(CLCN7):c.435C>T (p.Asp145=) rs201964194 0.00003
NM_001292063.2(OTOG):c.7995C>T (p.Cys2665=) rs200809116 0.00003
NM_001330078.2(NRXN1):c.3403A>G (p.Ile1135Val) rs765360600 0.00003
NM_001330078.2(NRXN1):c.882C>T (p.Tyr294=) rs200464704 0.00003
NM_001330260.2(SCN8A):c.491C>T (p.Thr164Met) rs775272996 0.00003
NM_001349338.3(FOXP1):c.1902C>T (p.His634=) rs749771909 0.00003
NM_001360.3(DHCR7):c.198C>T (p.Cys66=) rs775127532 0.00003
NM_001360.3(DHCR7):c.375C>T (p.Tyr125=) rs779401555 0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg) rs143312232 0.00003
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys) rs565893436 0.00003
NM_001365088.1(SLC12A6):c.230C>G (p.Pro77Arg) rs369793136 0.00003
NM_001365951.3(KIF1B):c.-5T>C rs200491456 0.00003
NM_001367624.2(ZNF469):c.11278G>A (p.Glu3760Lys) rs547014159 0.00003
NM_001367721.1(CASK):c.1669-9C>A rs562152407 0.00003
NM_001367721.1(CASK):c.1922G>A (p.Arg641Lys) rs76106850 0.00003
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=) rs587780841 0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176 0.00003
NM_001374385.1(ATP8B1):c.1071C>T (p.Ile357=) rs775490128 0.00003
NM_001374385.1(ATP8B1):c.2418+4C>T rs777913106 0.00003
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg) rs761765709 0.00003
NM_001377.3(DYNC2H1):c.7149G>A (p.Thr2383=) rs553516014 0.00003
NM_001378120.1(MBD5):c.3602C>T (p.Ser1201Leu) rs200985982 0.00003
NM_001378120.1(MBD5):c.4887G>A (p.Leu1629=) rs779662045 0.00003
NM_001378414.1(HDAC4):c.1458C>T (p.Val486=) rs139841625 0.00003
NM_001378454.1(ALMS1):c.3432C>T (p.Tyr1144=) rs768929630 0.00003
NM_001379110.1(SLC9A6):c.-16C>T rs139299794 0.00003
NM_001384474.1(LOXHD1):c.6148A>G (p.Met2050Val) rs141749060 0.00003
NM_001384732.1(CPLANE1):c.968C>T (p.Thr323Met) rs373704405 0.00003
NM_001457.4(FLNB):c.3826G>T (p.Ala1276Ser) rs199912711 0.00003
NM_001457.4(FLNB):c.6154C>T (p.Leu2052=) rs372726521 0.00003
NM_001458.5(FLNC):c.2130C>T (p.Asp710=) rs778781499 0.00003
NM_001458.5(FLNC):c.7291G>A (p.Val2431Met) rs572952653 0.00003
NM_001605.3(AARS1):c.1275T>C (p.Thr425=) rs750552137 0.00003
NM_001614.5(ACTG1):c.1095G>A (p.Ser365=) rs201121917 0.00003
NM_001701.4(BAAT):c.165C>T (p.Phe55=) rs377631387 0.00003
NM_001793.6(CDH3):c.2178G>A (p.Pro726=) rs398123626 0.00003
NM_001844.5(COL2A1):c.2143C>T (p.Leu715Phe) rs1482498887 0.00003
NM_001844.5(COL2A1):c.2410-7C>T rs767041085 0.00003
NM_001844.5(COL2A1):c.3961G>A (p.Glu1321Lys) rs748248022 0.00003
NM_001844.5(COL2A1):c.798G>A (p.Arg266=) rs376753701 0.00003
NM_001845.6(COL4A1):c.3591C>T (p.Ala1197=) rs768381482 0.00003
NM_001848.3(COL6A1):c.1671C>T (p.Asp557=) rs770099663 0.00003
NM_001848.3(COL6A1):c.1693C>T (p.Arg565Ter) rs1304888945 0.00003
NM_001848.3(COL6A1):c.423C>T (p.Leu141=) rs373486149 0.00003
NM_001849.4(COL6A2):c.115+10G>T rs200797233 0.00003
NM_001849.4(COL6A2):c.162G>A (p.Ser54=) rs780123839 0.00003
NM_001849.4(COL6A2):c.1962C>T (p.Ser654=) rs150253422 0.00003
NM_001849.4(COL6A2):c.2361G>A (p.Thr787=) rs566966690 0.00003
NM_001849.4(COL6A2):c.2488C>T (p.Arg830Trp) rs373072443 0.00003
NM_001849.4(COL6A2):c.612C>T (p.Ile204=) rs773143298 0.00003
NM_001853.4(COL9A3):c.1095G>A (p.Glu365=) rs776395616 0.00003
NM_001853.4(COL9A3):c.1548+7C>T rs373996629 0.00003
NM_001927.4(DES):c.229A>G (p.Thr77Ala) rs769034192 0.00003
NM_001943.5(DSG2):c.84C>G (p.Val28=) rs397516711 0.00003
NM_002335.4(LRP5):c.1002G>A (p.Arg334=) rs868085658 0.00003
NM_002335.4(LRP5):c.2241G>A (p.Leu747=) rs867927445 0.00003
NM_002335.4(LRP5):c.738C>T (p.Ser246=) rs768638466 0.00003
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp) rs863224072 0.00003
NM_002547.3(OPHN1):c.1008C>T (p.Asp336=) rs780149034 0.00003
NM_002693.3(POLG):c.1956C>T (p.Ile652=) rs757860628 0.00003
NM_002693.3(POLG):c.3480C>T (p.Thr1160=) rs1057521589 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_003036.4(SKI):c.970-7A>G rs199634070 0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558 0.00003
NM_003060.4(SLC22A5):c.451G>A (p.Val151Met) rs386134193 0.00003
NM_003060.4(SLC22A5):c.523G>A (p.Val175Met) rs781721860 0.00003
NM_003322.6(TULP1):c.1323+9C>T rs769417336 0.00003
NM_003482.4(KMT2D):c.7035G>A (p.Leu2345=) rs398123756 0.00003
NM_003742.4(ABCB11):c.126C>T (p.Gly42=) rs138800291 0.00003
NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr) rs886043807 0.00003
NM_003742.4(ABCB11):c.2037G>A (p.Ala679=) rs776223452 0.00003
NM_003742.4(ABCB11):c.2523G>A (p.Gly841=) rs367874361 0.00003
NM_003742.4(ABCB11):c.3060G>A (p.Val1020=) rs368622067 0.00003
NM_003742.4(ABCB11):c.3246T>C (p.Asp1082=) rs750944055 0.00003
NM_003742.4(ABCB11):c.3411+10G>A rs188996270 0.00003
NM_003742.4(ABCB11):c.3629C>G (p.Thr1210Ser) rs1033490064 0.00003
NM_003839.4(TNFRSF11A):c.1340C>T (p.Thr447Ile) rs776173779 0.00003
NM_004006.3(DMD):c.1014A>G (p.Glu338=) rs758035070 0.00003
NM_004006.3(DMD):c.1059G>A (p.Ser353=) rs760621626 0.00003
NM_004006.3(DMD):c.1482+7G>T rs766338928 0.00003
NM_004006.3(DMD):c.1919C>T (p.Thr640Met) rs183677010 0.00003
NM_004006.3(DMD):c.2293-8T>C rs377050013 0.00003
NM_004006.3(DMD):c.3096C>G (p.Leu1032=) rs770148717 0.00003
NM_004006.3(DMD):c.3419A>G (p.His1140Arg) rs201297190 0.00003
NM_004006.3(DMD):c.3814T>C (p.Leu1272=) rs746405191 0.00003
NM_004006.3(DMD):c.4049G>A (p.Arg1350His) rs750981128 0.00003
NM_004006.3(DMD):c.5530C>A (p.Arg1844=) rs1064325 0.00003
NM_004006.3(DMD):c.6614+7C>T rs180719577 0.00003
NM_004006.3(DMD):c.7449C>T (p.Thr2483=) rs766075840 0.00003
NM_004006.3(DMD):c.8218-5T>C rs183643245 0.00003
NM_004006.3(DMD):c.8520A>G (p.Ala2840=) rs767304792 0.00003
NM_004006.3(DMD):c.8643A>G (p.Leu2881=) rs747605156 0.00003
NM_004006.3(DMD):c.8958G>A (p.Ala2986=) rs755815057 0.00003
NM_004006.3(DMD):c.960+9A>G rs886038537 0.00003
NM_004082.5(DCTN1):c.414+1G>A rs576198476 0.00003
NM_004183.4(BEST1):c.418C>G (p.Leu140Val) rs267606678 0.00003
NM_004183.4(BEST1):c.55C>T (p.Arg19Cys) rs765385264 0.00003
NM_004208.4(AIFM1):c.952G>A (p.Ala318Thr) rs773680831 0.00003
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_004369.4(COL6A3):c.1785C>T (p.Ile595=) rs114278376 0.00003
NM_004369.4(COL6A3):c.2497+9C>A rs774198344 0.00003
NM_004369.4(COL6A3):c.438C>T (p.Ile146=) rs781449958 0.00003
NM_004369.4(COL6A3):c.5019C>T (p.Gly1673=) rs140516220 0.00003
NM_004369.4(COL6A3):c.6132G>T (p.Gly2044=) rs762950440 0.00003
NM_004369.4(COL6A3):c.9329-33C>T rs398124137 0.00003
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=) rs200287696 0.00003
NM_004380.3(CREBBP):c.6006G>T (p.Val2002=) rs768100377 0.00003
NM_004447.6(EPS8):c.1230A>C (p.Gly410=) rs184886917 0.00003
NM_004560.4(ROR2):c.2080T>C (p.Cys694Arg) rs142386992 0.00003
NM_004560.4(ROR2):c.51C>A (p.Ala17=) rs886043361 0.00003
NM_004565.3(PEX14):c.807C>T (p.Asn269=) rs757658916 0.00003
NM_004606.5(TAF1):c.4948T>C (p.Leu1650=) rs779320845 0.00003
NM_004744.5(LRAT):c.300C>T (p.Gly100=) rs770608706 0.00003
NM_004817.4(TJP2):c.2457A>G (p.Gln819=) rs988720358 0.00003
NM_004817.4(TJP2):c.3405G>A (p.Thr1135=) rs771190188 0.00003
NM_005199.5(CHRNG):c.330G>A (p.Pro110=) rs149931943 0.00003
NM_005422.4(TECTA):c.3493G>A (p.Val1165Met) rs373132598 0.00003
NM_005422.4(TECTA):c.811G>C (p.Glu271Gln) rs555093382 0.00003
NM_005476.7(GNE):c.737G>A (p.Arg246Gln) rs121908629 0.00003
NM_005529.7(HSPG2):c.5115C>G (p.Pro1705=) rs370558075 0.00003
NM_006204.4(PDE6C):c.1266C>T (p.Thr422=) rs530593118 0.00003
NM_006204.4(PDE6C):c.205G>A (p.Val69Met) rs568930062 0.00003
NM_006269.2(RP1):c.515T>G (p.Leu172Arg) rs180729424 0.00003
NM_006445.4(PRPF8):c.2619C>T (p.Asn873=) rs760867601 0.00003
NM_006516.4(SLC2A1):c.652C>T (p.Arg218Cys) rs147249343 0.00003
NM_006662.3(SRCAP):c.1545A>G (p.Glu515=) rs770648545 0.00003
NM_006662.3(SRCAP):c.9633C>T (p.Ser3211=) rs78465857 0.00003
NM_006790.3(MYOT):c.1398T>G (p.Leu466=) rs150033934 0.00003
NM_006899.5(IDH3B):c.1072-4G>A rs556473702 0.00003
NM_006899.5(IDH3B):c.981G>A (p.Leu327=) rs776399707 0.00003
NM_006922.4(SCN3A):c.1608C>T (p.Ser536=) rs376381280 0.00003
NM_006922.4(SCN3A):c.3177A>G (p.Lys1059=) rs370141420 0.00003
NM_006922.4(SCN3A):c.3744C>G (p.Thr1248=) rs761584493 0.00003
NM_007254.4(PNKP):c.1302C>T (p.Tyr434=) rs747244348 0.00003
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly) rs549000007 0.00003
NM_007294.4(BRCA1):c.4251G>A (p.Val1417=) rs777057839 0.00003
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr) rs143747297 0.00003
NM_012144.4(DNAI1):c.1703G>C (p.Trp568Ser) rs772686744 0.00003
NM_012210.4(TRIM32):c.-5G>A rs774975492 0.00003
NM_012338.4(TSPAN12):c.440C>A (p.Thr147Asn) rs759104377 0.00003
NM_012469.4(PRPF6):c.772-7C>T rs558787024 0.00003
NM_013382.7(POMT2):c.1743G>A (p.Gly581=) rs755254043 0.00003
NM_013382.7(POMT2):c.551C>T (p.Thr184Met) rs267606971 0.00003
NM_014141.6(CNTNAP2):c.1581C>T (p.Asp527=) rs774328147 0.00003
NM_014141.6(CNTNAP2):c.180C>T (p.Pro60=) rs753396304 0.00003
NM_014141.6(CNTNAP2):c.1896A>C (p.Thr632=) rs749646225 0.00003
NM_014251.3(SLC25A13):c.615+5G>A rs80338717 0.00003
NM_014363.6(SACS):c.8142G>A (p.Ser2714=) rs530250252 0.00003
NM_014425.5(INVS):c.2337G>C (p.Arg779=) rs779298889 0.00003
NM_014491.4(FOXP2):c.2003+10G>C rs199581885 0.00003
NM_014795.4(ZEB2):c.2255C>T (p.Thr752Met) rs143438888 0.00003
NM_014795.4(ZEB2):c.2886+4A>C rs754532627 0.00003
NM_014874.4(MFN2):c.119A>G (p.Asn40Ser) rs1354203259 0.00003
NM_014927.5(CNKSR2):c.1458A>G (p.Arg486=) rs760890681 0.00003
NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp) rs367686843 0.00003
NM_015102.5(NPHP4):c.2611+1G>A rs374141736 0.00003
NM_015102.5(NPHP4):c.2646C>T (p.Asp882=) rs774354969 0.00003
NM_015102.5(NPHP4):c.3417G>A (p.Pro1139=) rs371527260 0.00003
NM_015295.3(SMCHD1):c.5126C>T (p.Ser1709Leu) rs151311806 0.00003
NM_015346.4(ZFYVE26):c.7317C>T (p.Asp2439=) rs147321202 0.00003
NM_015404.4(WHRN):c.1473C>T (p.Phe491=) rs886044241 0.00003
NM_016239.4(MYO15A):c.2629G>T (p.Glu877Ter) rs771720649 0.00003
NM_016247.4(IMPG2):c.2531G>A (p.Arg844Gln) rs139105788 0.00003
NM_016356.5(DCDC2):c.1359A>G (p.Pro453=) rs374448795 0.00003
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser) rs201518848 0.00003
NM_017777.4(MKS1):c.813C>T (p.His271=) rs201961765 0.00003
NM_017780.4(CHD7):c.2614-7G>T rs762399977 0.00003
NM_017780.4(CHD7):c.6771C>T (p.Pro2257=) rs367615733 0.00003
NM_018136.5(ASPM):c.8821-9A>G rs375911555 0.00003
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=) rs140367649 0.00003
NM_020822.3(KCNT1):c.3537C>T (p.Tyr1179=) rs149927148 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_022124.6(CDH23):c.3924C>T (p.Asp1308=) rs776501112 0.00003
NM_022124.6(CDH23):c.4620C>T (p.Asn1540=) rs111033490 0.00003
NM_022124.6(CDH23):c.7077A>C (p.Thr2359=) rs191154178 0.00003
NM_022124.6(CDH23):c.8775C>T (p.Pro2925=) rs766541944 0.00003
NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly) rs188966938 0.00003
NM_022356.4(P3H1):c.2164C>A (p.Gln722Lys) rs771006240 0.00003
NM_022436.3(ABCG5):c.408C>T (p.Asp136=) rs141386201 0.00003
NM_022436.3(ABCG5):c.834G>A (p.Ala278=) rs373182673 0.00003
NM_022437.3(ABCG8):c.1125A>G (p.Glu375=) rs371968769 0.00003
NM_022455.5(NSD1):c.2765C>T (p.Thr922Met) rs753460351 0.00003
NM_022455.5(NSD1):c.3272T>G (p.Leu1091Arg) rs764231926 0.00003
NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg) rs570278983 0.00003
NM_022455.5(NSD1):c.4858G>A (p.Val1620Ile) rs774169673 0.00003
NM_022552.5(DNMT3A):c.2676A>G (p.Ser892=) rs763189481 0.00003
NM_024120.5(NDUFAF5):c.775C>T (p.Gln259Ter) rs755097467 0.00003
NM_024408.4(NOTCH2):c.2388T>A (p.Ile796=) rs138943874 0.00003
NM_024408.4(NOTCH2):c.4005G>A (p.Pro1335=) rs118188023 0.00003
NM_024408.4(NOTCH2):c.6028-4G>A rs372465730 0.00003
NM_024408.4(NOTCH2):c.6307T>A (p.Ser2103Thr) rs779311707 0.00003
NM_024529.5(CDC73):c.1418-4A>G rs1269877061 0.00003
NM_024577.4(SH3TC2):c.1017C>T (p.Ala339=) rs201779392 0.00003
NM_024596.5(MCPH1):c.297C>T (p.His99=) rs727504012 0.00003
NM_024649.5(BBS1):c.1338C>T (p.Thr446=) rs368302072 0.00003
NM_024757.5(EHMT1):c.86-5G>A rs371370370 0.00003
NM_025074.7(FRAS1):c.8752+9T>C rs191984935 0.00003
NM_030665.4(RAI1):c.195G>A (p.Thr65=) rs377342940 0.00003
NM_030665.4(RAI1):c.5023G>C (p.Val1675Leu) rs113210810 0.00003
NM_030665.4(RAI1):c.660C>T (p.Ser220=) rs756623054 0.00003
NM_031407.7(HUWE1):c.11996+9C>T rs782772316 0.00003
NM_032119.4(ADGRV1):c.10051C>T (p.Leu3351=) rs1445890457 0.00003
NM_032119.4(ADGRV1):c.15059C>A (p.Thr5020Lys) rs753667658 0.00003
NM_032119.4(ADGRV1):c.16226G>A (p.Arg5409Gln) rs567881943 0.00003
NM_032119.4(ADGRV1):c.17108G>A (p.Arg5703His) rs201073459 0.00003
NM_032119.4(ADGRV1):c.17857-6T>C rs773357747 0.00003
NM_032119.4(ADGRV1):c.17869G>A (p.Ala5957Thr) rs765800403 0.00003
NM_032119.4(ADGRV1):c.1854G>A (p.Glu618=) rs376904160 0.00003
NM_032119.4(ADGRV1):c.267C>T (p.Ala89=) rs759771981 0.00003
NM_032119.4(ADGRV1):c.2885C>G (p.Ser962Cys) rs759360751 0.00003
NM_032119.4(ADGRV1):c.5313+4A>G rs748976832 0.00003
NM_032119.4(ADGRV1):c.5658A>G (p.Thr1886=) rs377468788 0.00003
NM_032119.4(ADGRV1):c.9772G>A (p.Val3258Ile) rs764987437 0.00003
NM_032578.4(MYPN):c.3417C>T (p.Arg1139=) rs144488384 0.00003
NM_033100.4(CDHR1):c.1A>G (p.Met1Val) rs794726954 0.00003
NM_054027.6(ANKH):c.27C>T (p.His9=) rs199583793 0.00003
NM_080632.3(UPF3B):c.758T>C (p.Ile253Thr) rs754982440 0.00003
NM_080680.3(COL11A2):c.3325C>T (p.Pro1109Ser) rs761687232 0.00003
NM_080680.3(COL11A2):c.3352C>A (p.Gln1118Lys) rs369849667 0.00003
NM_080916.3(DGUOK):c.444-11C>G rs536746349 0.00003
NM_130837.3(OPA1):c.245A>G (p.Tyr82Cys) rs749063844 0.00003
NM_130837.3(OPA1):c.33-8T>C rs370303596 0.00003
NM_130837.3(OPA1):c.448+50A>G rs377239493 0.00003
NM_130839.5(UBE3A):c.*4A>G rs755581358 0.00003
NM_130839.5(UBE3A):c.582A>G (p.Ala194=) rs764101035 0.00003
NM_130839.5(UBE3A):c.789C>T (p.Asn263=) rs1453409055 0.00003
NM_133497.4(KCNV2):c.1086C>G (p.Arg362=) rs199886720 0.00003
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr) rs181546197 0.00003
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln) rs770494581 0.00003
NM_139343.3(BIN1):c.1003-16C>T rs547659375 0.00003
NM_152564.5(VPS13B):c.1770G>A (p.Ala590=) rs760564848 0.00003
NM_152564.5(VPS13B):c.5761A>G (p.Thr1921Ala) rs112749780 0.00003
NM_152564.5(VPS13B):c.7248C>T (p.Ser2416=) rs886043216 0.00003
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=) rs775883776 0.00003
NM_152594.3(SPRED1):c.684+50A>T rs200338097 0.00003
NM_153240.5(NPHP3):c.189G>C (p.Gly63=) rs750280281 0.00003
NM_153240.5(NPHP3):c.3063G>A (p.Ala1021=) rs769832219 0.00003
NM_170707.4(LMNA):c.78C>T (p.Ile26=) rs373721390 0.00003
NM_170784.3(MKKS):c.1161+4G>A rs761886025 0.00003
NM_181486.4(TBX5):c.828C>T (p.Ser276=) rs146908258 0.00003
NM_182961.4(SYNE1):c.11247G>A (p.Thr3749=) rs138882800 0.00003
NM_182961.4(SYNE1):c.11595G>A (p.Thr3865=) rs760332489 0.00003
NM_182961.4(SYNE1):c.11702G>C (p.Ser3901Thr) rs376327805 0.00003
NM_182961.4(SYNE1):c.12573C>T (p.Thr4191=) rs143851739 0.00003
NM_182961.4(SYNE1):c.12930C>T (p.Asp4310=) rs760209358 0.00003
NM_182961.4(SYNE1):c.18930G>T (p.Gln6310His) rs759556319 0.00003
NM_182961.4(SYNE1):c.19927T>C (p.Leu6643=) rs143118084 0.00003
NM_182961.4(SYNE1):c.22035T>G (p.Thr7345=) rs750669148 0.00003
NM_182961.4(SYNE1):c.24449A>G (p.Lys8150Arg) rs557350925 0.00003
NM_182961.4(SYNE1):c.5250A>G (p.Pro1750=) rs368364250 0.00003
NM_194248.3(OTOF):c.40C>T (p.Arg14Trp) rs774530840 0.00003
NM_194248.3(OTOF):c.4922G>A (p.Arg1641His) rs200283244 0.00003
NM_198253.3(TERT):c.150G>A (p.Leu50=) rs886044153 0.00003
NM_198525.3(KIF7):c.61C>T (p.Arg21Ter) rs794727316 0.00003
NM_201384.3(PLEC):c.12585C>T (p.Ile4195=) rs1002095432 0.00003
NM_201384.3(PLEC):c.13575G>A (p.Ser4525=) rs549882307 0.00003
NM_201384.3(PLEC):c.2550C>G (p.Ala850=) rs376777606 0.00003
NM_201384.3(PLEC):c.3501C>T (p.His1167=) rs782038506 0.00003
NM_201384.3(PLEC):c.366T>C (p.Asn122=) rs782096761 0.00003
NM_201384.3(PLEC):c.3955C>T (p.Leu1319=) rs201416081 0.00003
NM_201384.3(PLEC):c.678G>A (p.Ala226=) rs782369854 0.00003
NM_201384.3(PLEC):c.7220G>A (p.Arg2407Gln) rs782618396 0.00003
NM_201384.3(PLEC):c.7822G>A (p.Ala2608Thr) rs199995144 0.00003
NM_206933.4(USH2A):c.10497T>C (p.Pro3499=) rs749177032 0.00003
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly) rs781668118 0.00003
NM_206933.4(USH2A):c.6618A>G (p.Gln2206=) rs745614158 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276 0.00003
NM_207346.3(TSEN54):c.1415G>A (p.Arg472Gln) rs151332020 0.00003
NM_207361.6(FREM2):c.6499C>T (p.Arg2167Trp) rs114837786 0.00003
NM_213599.3(ANO5):c.1689T>C (p.Phe563=) rs527322470 0.00003
NM_213599.3(ANO5):c.173G>A (p.Arg58Gln) rs749698519 0.00003
NM_213599.3(ANO5):c.2176dup (p.Ser726fs) rs797044667 0.00003
NM_213599.3(ANO5):c.276A>G (p.Lys92=) rs201678262 0.00003
NM_213599.3(ANO5):c.817C>T (p.Leu273Phe) rs772929002 0.00003
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg) rs757434857 0.00002
NM_000016.6(ACADM):c.617G>A (p.Arg206His) rs200724875 0.00002
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys) rs758647756 0.00002
NM_000023.4(SGCA):c.242G>A (p.Arg81His) rs747984529 0.00002
NM_000035.4(ALDOB):c.465C>T (p.Ala155=) rs569981883 0.00002
NM_000036.3(AMPD1):c.144G>A (p.Pro48=) rs145786786 0.00002
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075 0.00002
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His) rs80358398 0.00002
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu) rs28897717 0.00002
NM_000059.4(BRCA2):c.5270A>G (p.Tyr1757Cys) rs587776466 0.00002
NM_000059.4(BRCA2):c.8573A>G (p.Gln2858Arg) rs80359114 0.00002
NM_000059.4(BRCA2):c.9270C>T (p.Phe3090=) rs587780873 0.00002
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys) rs371784007 0.00002
NM_000070.3(CAPN3):c.2440-1G>A rs886044052 0.00002
NM_000071.3(CBS):c.325T>C (p.Cys109Arg) rs778220779 0.00002
NM_000071.3(CBS):c.430G>A (p.Glu144Lys) rs121964966 0.00002
NM_000092.5(COL4A4):c.372+7A>G rs1483461114 0.00002
NM_000117.3(EMD):c.662G>T (p.Arg221Leu) rs782057378 0.00002
NM_000127.3(EXT1):c.2148G>A (p.Pro716=) rs757499157 0.00002
NM_000141.5(FGFR2):c.2040C>T (p.Tyr680=) rs751495618 0.00002
NM_000141.5(FGFR2):c.2106G>A (p.Ser702=) rs794727163 0.00002
NM_000152.5(GAA):c.-2C>T rs560511228 0.00002
NM_000152.5(GAA):c.1083G>A (p.Pro361=) rs781379047 0.00002
NM_000152.5(GAA):c.1560C>T (p.Asn520=) rs116322271 0.00002
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472 0.00002
NM_000152.5(GAA):c.705G>A (p.Thr235=) rs2304846 0.00002
NM_000156.6(GAMT):c.189G>C (p.Arg63=) rs568392459 0.00002
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) rs409652 0.00002
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000214.3(JAG1):c.2199C>T (p.Gly733=) rs756062969 0.00002
NM_000214.3(JAG1):c.2739C>T (p.Ser913=) rs766479402 0.00002
NM_000214.3(JAG1):c.388-4G>C rs567027490 0.00002
NM_000214.3(JAG1):c.489C>T (p.Pro163=) rs376298235 0.00002
NM_000235.4(LIPA):c.1077G>A (p.Gln359=) rs538507117 0.00002
NM_000238.4(KCNH2):c.2331C>T (p.Thr777=) rs41307292 0.00002
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=) rs200728597 0.00002
NM_000260.4(MYO7A):c.1209C>T (p.Tyr403=) rs782397746 0.00002
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=) rs372535399 0.00002
NM_000260.4(MYO7A):c.5004C>T (p.Tyr1668=) rs1479835169 0.00002
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr) rs765729815 0.00002
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His) rs200444084 0.00002
NM_000286.3(PEX12):c.570A>G (p.Ser190=) rs758132842 0.00002
NM_000295.5(SERPINA1):c.1065+6A>T rs79078626 0.00002
NM_000318.3(PEX2):c.174G>A (p.Ala58=) rs150987080 0.00002
NM_000334.4(SCN4A):c.3205G>A (p.Asp1069Asn) rs373150395 0.00002
NM_000334.4(SCN4A):c.4434G>A (p.Ser1478=) rs753725579 0.00002
NM_000336.3(SCNN1B):c.1663C>T (p.Leu555=) rs779990343 0.00002
NM_000337.6(SGCD):c.193-7A>G rs747018859 0.00002
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402 0.00002
NM_000350.3(ABCA4):c.6113G>A (p.Arg2038Gln) rs767729255 0.00002
NM_000368.5(TSC1):c.2077G>C (p.Asp693His) rs397514800 0.00002
NM_000368.5(TSC1):c.2115G>A (p.Glu705=) rs142662480 0.00002
NM_000368.5(TSC1):c.947G>A (p.Arg316Gln) rs375956049 0.00002
NM_000390.4(CHM):c.1771-8T>C rs912390081 0.00002
NM_000391.4(TPP1):c.1552-9C>T rs369699167 0.00002
NM_000392.5(ABCC2):c.306C>A (p.Thr102=) rs559908064 0.00002
NM_000392.5(ABCC2):c.3927C>T (p.Tyr1309=) rs4148401 0.00002
NM_000392.5(ABCC2):c.4431G>A (p.Thr1477=) rs146718433 0.00002
NM_000414.4(HSD17B4):c.1278A>T (p.Glu426Asp) rs780820166 0.00002
NM_000414.4(HSD17B4):c.1528G>A (p.Asp510Asn) rs191468413 0.00002
NM_000426.4(LAMA2):c.5562+5G>C rs771046502 0.00002
NM_000430.4(PAFAH1B1):c.569-4T>G rs765106555 0.00002
NM_000443.4(ABCB4):c.201C>T (p.His67=) rs747703354 0.00002
NM_000443.4(ABCB4):c.2211+1G>A rs794727183 0.00002
NM_000443.4(ABCB4):c.2811T>C (p.Tyr937=) rs1461886025 0.00002
NM_000443.4(ABCB4):c.3381C>T (p.Ala1127=) rs766402494 0.00002
NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp) rs754287486 0.00002
NM_000443.4(ABCB4):c.54G>A (p.Glu18=) rs141141860 0.00002
NM_000443.4(ABCB4):c.717G>A (p.Ser239=) rs770169131 0.00002
NM_000444.6(PHEX):c.1675T>C (p.Phe559Leu) rs762828809 0.00002
NM_000452.3(SLC10A2):c.190C>T (p.Arg64Trp) rs142620512 0.00002
NM_000452.3(SLC10A2):c.246A>G (p.Thr82=) rs761652195 0.00002
NM_000463.3(UGT1A1):c.-4C>T rs752018052 0.00002
NM_000463.3(UGT1A1):c.1175C>T (p.Pro392Leu) rs886043066 0.00002
NM_000466.3(PEX1):c.2268A>G (p.Lys756=) rs1434174453 0.00002
NM_000487.6(ARSA):c.930C>T (p.Gly310=) rs767751622 0.00002
NM_000492.4(CFTR):c.3024C>T (p.Val1008=) rs774643457 0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758 0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) rs397508537 0.00002
NM_000492.4(CFTR):c.3852A>G (p.Lys1284=) rs547248892 0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_000521.4(HEXB):c.1614-16_1615dup rs1554037309 0.00002
NM_000540.3(RYR1):c.14817C>T (p.Asp4939=) rs193922895 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.2635G>A (p.Glu879Lys) rs746904839 0.00002
NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys) rs111272095 0.00002
NM_000540.3(RYR1):c.4980C>T (p.Arg1660=) rs374115286 0.00002
NM_000540.3(RYR1):c.5484C>T (p.Asp1828=) rs775744847 0.00002
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr) rs398123473 0.00002
NM_000540.3(RYR1):c.7615-5C>T rs768008924 0.00002
NM_000543.5(SMPD1):c.102C>G (p.Gly34=) rs889113421 0.00002
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys) rs372287825 0.00002
NM_000543.5(SMPD1):c.234C>T (p.Pro78=) rs575601110 0.00002
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000548.5(TSC2):c.1818C>T (p.Ile606=) rs547389841 0.00002
NM_000548.5(TSC2):c.3270C>T (p.Ser1090=) rs754951889 0.00002
NM_000548.5(TSC2):c.354C>G (p.Val118=) rs762228318 0.00002
NM_000548.5(TSC2):c.3768G>A (p.Pro1256=) rs201599540 0.00002
NM_000548.5(TSC2):c.4077C>T (p.Ile1359=) rs150999168 0.00002
NM_000601.6(HGF):c.2019T>C (p.Tyr673=) rs367800414 0.00002
NM_000719.7(CACNA1C):c.666C>T (p.Asn222=) rs527741368 0.00002
NM_000726.5(CACNB4):c.1437G>A (p.Gln479=) rs794727118 0.00002
NM_000742.4(CHRNA2):c.1270G>A (p.Ala424Thr) rs767138285 0.00002
NM_000784.4(CYP27A1):c.315C>T (p.His105=) rs753981913 0.00002
NM_000823.4(GHRHR):c.870C>T (p.Val290=) rs369716383 0.00002
NM_001015877.2(PHF6):c.688A>G (p.Ile230Val) rs794727879 0.00002
NM_001025295.3(IFITM5):c.100C>T (p.Arg34Ter) rs531009160 0.00002
NM_001029883.3(PCARE):c.85C>T (p.Arg29Trp) rs201706430 0.00002
NM_001034850.3(RETREG1):c.1182T>C (p.Ala394=) rs886043753 0.00002
NM_001035.3(RYR2):c.3180C>T (p.Tyr1060=) rs398123540 0.00002
NM_001039141.3(TRIOBP):c.6472+19_6472+20insA rs397769084 0.00002
NM_001040167.2(LFNG):c.774C>T (p.Gly258=) rs770507072 0.00002
NM_001042432.2(CLN3):c.240G>A (p.Thr80=) rs373911322 0.00002
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp) rs398124244 0.00002
NM_001077365.2(POMT1):c.1698+6C>T rs180847856 0.00002
NM_001077525.3(MTMR14):c.540G>A (p.Glu180=) rs993417750 0.00002
NM_001079802.2(FKTN):c.342A>G (p.Ala114=) rs368598407 0.00002
NM_001079802.2(FKTN):c.63G>C (p.Leu21=) rs766642997 0.00002
NM_001083961.2(WDR62):c.3514+1G>A rs199736219 0.00002
NM_001101426.4(CRPPA):c.402A>G (p.Leu134=) rs368815582 0.00002
NM_001101426.4(CRPPA):c.52C>T (p.Leu18=) rs886043287 0.00002
NM_001101426.4(CRPPA):c.825G>A (p.Ser275=) rs766874330 0.00002
NM_001110556.2(FLNA):c.1000G>A (p.Ala334Thr) rs886044859 0.00002
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) rs782129236 0.00002
NM_001110556.2(FLNA):c.623-7G>A rs782670288 0.00002
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg) rs587783139 0.00002
NM_001111125.3(IQSEC2):c.1695C>T (p.Asp565=) rs886044781 0.00002
NM_001111125.3(IQSEC2):c.4022G>A (p.Arg1341Lys) rs957057964 0.00002
NM_001114753.3(ENG):c.1572C>T (p.Pro524=) rs760682477 0.00002
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu) rs572722130 0.00002
NM_001127671.2(LIFR):c.1485T>C (p.Ala495=) rs759537735 0.00002
NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys) rs368482631 0.00002
NM_001130823.3(DNMT1):c.2835C>T (p.Asn945=) rs539948794 0.00002
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890 0.00002
NM_001159699.2(FHL1):c.447G>A (p.Lys149=) rs768142579 0.00002
NM_001164508.2(NEB):c.4283A>G (p.Asn1428Ser) rs565184120 0.00002
NM_001165963.4(SCN1A):c.4284+7G>A rs745918943 0.00002
NM_001173990.3(TMEM216):c.57G>T (p.Pro19=) rs769285695 0.00002
NM_001177316.2(SLC34A3):c.449-3C>T rs757092241 0.00002
NM_001184880.2(PCDH19):c.2721T>C (p.Ser907=) rs376946966 0.00002
NM_001193315.2(VIPAS39):c.1005A>T (p.Thr335=) rs765454382 0.00002
NM_001193315.2(VIPAS39):c.1164C>T (p.Ala388=) rs886043868 0.00002
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105 0.00002
NM_001256317.3(TMPRSS3):c.999C>T (p.Pro333=) rs192630206 0.00002
NM_001267550.2(TTN):c.102024A>G (p.Leu34008=) rs727504677 0.00002
NM_001267550.2(TTN):c.102614G>A (p.Gly34205Asp) rs367926247 0.00002
NM_001267550.2(TTN):c.103302T>C (p.Tyr34434=) rs773408387 0.00002
NM_001267550.2(TTN):c.103576G>C (p.Glu34526Gln) rs770742837 0.00002
NM_001267550.2(TTN):c.105261G>A (p.Thr35087=) rs556741970 0.00002
NM_001267550.2(TTN):c.105562A>C (p.Ile35188Leu) rs727504491 0.00002
NM_001267550.2(TTN):c.107377+1G>A rs112188483 0.00002
NM_001267550.2(TTN):c.107517T>G (p.Ser35839Arg) rs776981475 0.00002
NM_001267550.2(TTN):c.107628del (p.Asn35876fs) rs766624923 0.00002
NM_001267550.2(TTN):c.1450G>A (p.Asp484Asn) rs768211726 0.00002
NM_001267550.2(TTN):c.15430G>A (p.Glu5144Lys) rs766612317 0.00002
NM_001267550.2(TTN):c.16738A>G (p.Asn5580Asp) rs376598696 0.00002
NM_001267550.2(TTN):c.16959T>C (p.Asp5653=) rs770260995 0.00002
NM_001267550.2(TTN):c.17596G>T (p.Gly5866Cys) rs753136638 0.00002
NM_001267550.2(TTN):c.18720A>G (p.Arg6240=) rs201395913 0.00002
NM_001267550.2(TTN):c.18777C>A (p.Thr6259=) rs750180579 0.00002
NM_001267550.2(TTN):c.21689C>T (p.Ala7230Val) rs761223583 0.00002
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540 0.00002
NM_001267550.2(TTN):c.23076C>T (p.Cys7692=) rs769505705 0.00002
NM_001267550.2(TTN):c.24075T>G (p.Ile8025Met) rs371496970 0.00002
NM_001267550.2(TTN):c.26557G>C (p.Val8853Leu) rs757381520 0.00002
NM_001267550.2(TTN):c.26985C>A (p.Asp8995Glu) rs781351100 0.00002
NM_001267550.2(TTN):c.27592C>G (p.Gln9198Glu) rs72648995 0.00002
NM_001267550.2(TTN):c.28175-10C>T rs748478445 0.00002
NM_001267550.2(TTN):c.29219A>G (p.Asn9740Ser) rs753121692 0.00002
NM_001267550.2(TTN):c.29937C>T (p.Ile9979=) rs878892843 0.00002
NM_001267550.2(TTN):c.32471-6C>T rs763361422 0.00002
NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr) rs397517553 0.00002
NM_001267550.2(TTN):c.39099T>C (p.Pro13033=) rs755793186 0.00002
NM_001267550.2(TTN):c.39115A>C (p.Thr13039Pro) rs766921440 0.00002
NM_001267550.2(TTN):c.39368C>T (p.Ala13123Val) rs761828404 0.00002
NM_001267550.2(TTN):c.39786A>G (p.Glu13262=) rs398124450 0.00002
NM_001267550.2(TTN):c.42687C>T (p.Ala14229=) rs775889693 0.00002
NM_001267550.2(TTN):c.42892G>A (p.Glu14298Lys) rs778634417 0.00002
NM_001267550.2(TTN):c.42933T>C (p.Asn14311=) rs148528251 0.00002
NM_001267550.2(TTN):c.43653T>C (p.His14551=) rs768244114 0.00002
NM_001267550.2(TTN):c.47766C>T (p.Thr15922=) rs757006832 0.00002
NM_001267550.2(TTN):c.49032G>A (p.Val16344=) rs587780980 0.00002
NM_001267550.2(TTN):c.53261T>C (p.Phe17754Ser) rs749312983 0.00002
NM_001267550.2(TTN):c.53443A>G (p.Ile17815Val) rs368065637 0.00002
NM_001267550.2(TTN):c.5373C>A (p.Thr1791=) rs727503693 0.00002
NM_001267550.2(TTN):c.54314G>A (p.Arg18105His) rs760383112 0.00002
NM_001267550.2(TTN):c.574C>T (p.Leu192=) rs767983460 0.00002
NM_001267550.2(TTN):c.59937G>A (p.Gly19979=) rs727505101 0.00002
NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly) rs727504490 0.00002
NM_001267550.2(TTN):c.64101G>A (p.Pro21367=) rs397517657 0.00002
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=) rs371514555 0.00002
NM_001267550.2(TTN):c.6478A>G (p.Thr2160Ala) rs397517693 0.00002
NM_001267550.2(TTN):c.65300T>C (p.Ile21767Thr) rs762578274 0.00002
NM_001267550.2(TTN):c.65319T>C (p.Thr21773=) rs746956869 0.00002
NM_001267550.2(TTN):c.66372C>T (p.Thr22124=) rs756981729 0.00002
NM_001267550.2(TTN):c.67809G>A (p.Ala22603=) rs548223512 0.00002
NM_001267550.2(TTN):c.69204C>A (p.Gly23068=) rs188919648 0.00002
NM_001267550.2(TTN):c.6945A>G (p.Thr2315=) rs879103814 0.00002
NM_001267550.2(TTN):c.69554G>A (p.Arg23185Gln) rs201448988 0.00002
NM_001267550.2(TTN):c.70260G>A (p.Pro23420=) rs72646887 0.00002
NM_001267550.2(TTN):c.70435C>T (p.Arg23479Trp) rs760509116 0.00002
NM_001267550.2(TTN):c.7057+2dup rs765019023 0.00002
NM_001267550.2(TTN):c.70983G>A (p.Pro23661=) rs568193318 0.00002
NM_001267550.2(TTN):c.71903A>C (p.Asn23968Thr) rs769320596 0.00002
NM_001267550.2(TTN):c.732C>T (p.Ala244=) rs761859812 0.00002
NM_001267550.2(TTN):c.7392T>C (p.Leu2464=) rs565784637 0.00002
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly) rs573415766 0.00002
NM_001267550.2(TTN):c.7524T>C (p.His2508=) rs2291307 0.00002
NM_001267550.2(TTN):c.75745C>T (p.Arg25249Cys) rs397517702 0.00002
NM_001267550.2(TTN):c.76482C>T (p.Asp25494=) rs370908118 0.00002
NM_001267550.2(TTN):c.79545C>T (p.Gly26515=) rs761713195 0.00002
NM_001267550.2(TTN):c.81850G>A (p.Val27284Ile) rs746222222 0.00002
NM_001267550.2(TTN):c.82582C>T (p.Arg27528Trp) rs749852593 0.00002
NM_001267550.2(TTN):c.86024C>T (p.Pro28675Leu) rs766419568 0.00002
NM_001267550.2(TTN):c.86045C>T (p.Pro28682Leu) rs760467197 0.00002
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776 0.00002
NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu) rs140025425 0.00002
NM_001278116.2(L1CAM):c.1249G>A (p.Ala417Thr) rs782331927 0.00002
NM_001278116.2(L1CAM):c.1379+3G>A rs782455321 0.00002
NM_001278116.2(L1CAM):c.1962C>T (p.Asp654=) rs201372074 0.00002
NM_001278116.2(L1CAM):c.3015C>T (p.Ile1005=) rs202082978 0.00002
NM_001278116.2(L1CAM):c.603C>T (p.Ser201=) rs782223025 0.00002
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206 0.00002
NM_001330078.2(NRXN1):c.1320+10G>A rs113028018 0.00002
NM_001330260.2(SCN8A):c.2073C>T (p.Tyr691=) rs146982102 0.00002
NM_001330260.2(SCN8A):c.4719G>A (p.Met1573Ile) rs780940263 0.00002
NM_001349206.2(LPIN1):c.1044C>T (p.Ser348=) rs775088748 0.00002
NM_001351132.2(PEX5):c.1111-4C>G rs376699778 0.00002
NM_001353214.3(DYM):c.288-10G>A rs557407004 0.00002
NM_001358921.2(COQ2):c.868C>T (p.Leu290=) rs375066516 0.00002
NM_001367721.1(CASK):c.1419A>G (p.Pro473=) rs764194945 0.00002
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686 0.00002
NM_001374353.1(GLI2):c.1481C>T (p.Ser494Leu) rs372925840 0.00002
NM_001374385.1(ATP8B1):c.1029+5T>C rs200663890 0.00002
NM_001374385.1(ATP8B1):c.3532-8C>G rs1322207888 0.00002
NM_001374385.1(ATP8B1):c.3553T>C (p.Leu1185=) rs751410046 0.00002
NM_001376.5(DYNC1H1):c.12450G>A (p.Pro4150=) rs749647281 0.00002
NM_001377.3(DYNC2H1):c.1360+2del rs780539887 0.00002
NM_001378120.1(MBD5):c.258C>T (p.Thr86=) rs542137271 0.00002
NM_001378454.1(ALMS1):c.813G>A (p.Ser271=) rs775482774 0.00002
NM_001378454.1(ALMS1):c.9050A>G (p.Asn3017Ser) rs768218725 0.00002
NM_001378615.1(CC2D2A):c.1497A>G (p.Gln499=) rs368116362 0.00002
NM_001378615.1(CC2D2A):c.3054G>A (p.Lys1018=) rs377575861 0.00002
NM_001384140.1(PCDH15):c.3009+7G>A rs201161336 0.00002
NM_001384140.1(PCDH15):c.4049G>A (p.Arg1350His) rs752356781 0.00002
NM_001385.3(DPYS):c.424-1G>A rs879851088 0.00002
NM_001386393.1(PANK2):c.744A>C (p.Ser248=) rs778370524 0.00002
NM_001457.4(FLNB):c.6497C>T (p.Thr2166Met) rs199939739 0.00002
NM_001458.5(FLNC):c.1976T>G (p.Leu659Arg) rs576402053 0.00002
NM_001458.5(FLNC):c.2008-7C>T rs767576240 0.00002
NM_001458.5(FLNC):c.3243G>A (p.Ala1081=) rs534482249 0.00002
NM_001458.5(FLNC):c.5375C>T (p.Ala1792Val) rs200233856 0.00002
NM_001458.5(FLNC):c.8070G>T (p.Arg2690=) rs373087529 0.00002
NM_001692.4(ATP6V1B1):c.1276G>A (p.Val426Met) rs531239712 0.00002
NM_001701.4(BAAT):c.102A>T (p.Ala34=) rs774722346 0.00002
NM_001701.4(BAAT):c.903A>T (p.Thr301=) rs767910529 0.00002
NM_001830.4(CLCN4):c.1503G>A (p.Arg501=) rs398123627 0.00002
NM_001844.5(COL2A1):c.1743T>C (p.Pro581=) rs755517458 0.00002
NM_001844.5(COL2A1):c.4290G>A (p.Thr1430=) rs554488169 0.00002
NM_001845.6(COL4A1):c.1897+7C>G rs773791331 0.00002
NM_001848.3(COL6A1):c.2712C>T (p.Val904=) rs780582491 0.00002
NM_001848.3(COL6A1):c.2797G>A (p.Gly933Ser) rs201835072 0.00002
NM_001848.3(COL6A1):c.717C>T (p.Ile239=) rs775349013 0.00002
NM_001848.3(COL6A1):c.859-18T>A rs398123641 0.00002
NM_001849.4(COL6A2):c.1945G>A (p.Ala649Thr) rs142002945 0.00002
NM_001852.4(COL9A2):c.1857C>G (p.Pro619=) rs771660985 0.00002
NM_001853.4(COL9A3):c.325C>T (p.Pro109Ser) rs774823793 0.00002
NM_001854.4(COL11A1):c.4320T>C (p.Pro1440=) rs762511819 0.00002
NM_001927.4(DES):c.708C>T (p.Ile236=) rs886044078 0.00002
NM_001999.4(FBN2):c.1194C>T (p.Ile398=) rs766004910 0.00002
NM_002351.5(SH2D1A):c.53A>G (p.Lys18Arg) rs1303880423 0.00002
NM_002397.5(MEF2C):c.489A>G (p.Ser163=) rs781632867 0.00002
NM_002437.5(MPV17):c.376-9T>G rs368900406 0.00002
NM_002471.4(MYH6):c.2217T>C (p.Asp739=) rs374177807 0.00002
NM_002473.6(MYH9):c.108C>T (p.Ser36=) rs764743124 0.00002
NM_002473.6(MYH9):c.3591C>T (p.Ala1197=) rs549408462 0.00002
NM_002485.5(NBN):c.120G>T (p.Ser40=) rs774989816 0.00002
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_002693.3(POLG):c.1250+5G>T rs751221993 0.00002
NM_002693.3(POLG):c.1929T>C (p.Ala643=) rs745800212 0.00002
NM_002693.3(POLG):c.2019C>T (p.Ala673=) rs557179508 0.00002
NM_002693.3(POLG):c.3104+8C>A rs754615624 0.00002
NM_002693.3(POLG):c.33C>T (p.Gly11=) rs1482684558 0.00002
NM_002693.3(POLG):c.3630C>T (p.Tyr1210=) rs139562274 0.00002
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln) rs121434582 0.00002
NM_002880.4(RAF1):c.1668+4A>G rs771344560 0.00002
NM_002880.4(RAF1):c.639T>C (p.Thr213=) rs397516823 0.00002
NM_003049.4(SLC10A1):c.936T>G (p.Thr312=) rs201142538 0.00002
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) rs267607054 0.00002
NM_003482.4(KMT2D):c.6204G>A (p.Arg2068=) rs532098737 0.00002
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter) rs1291760879 0.00002
NM_003742.4(ABCB11):c.154C>T (p.Arg52Trp) rs763526610 0.00002
NM_003742.4(ABCB11):c.2799G>T (p.Leu933=) rs1057164807 0.00002
NM_003742.4(ABCB11):c.3268C>T (p.Arg1090Ter) rs72549396 0.00002
NM_004006.3(DMD):c.10677T>C (p.Ile3559=) rs765950547 0.00002
NM_004006.3(DMD):c.10911G>A (p.Ser3637=) rs747939733 0.00002
NM_004006.3(DMD):c.1573G>A (p.Ala525Thr) rs754158494 0.00002
NM_004006.3(DMD):c.159C>A (p.Leu53=) rs762245872 0.00002
NM_004006.3(DMD):c.2210G>A (p.Arg737His) rs773358704 0.00002
NM_004006.3(DMD):c.2828G>A (p.Arg943His) rs398123911 0.00002
NM_004006.3(DMD):c.2967G>T (p.Leu989=) rs760097427 0.00002
NM_004006.3(DMD):c.3327T>C (p.Asn1109=) rs775591219 0.00002
NM_004006.3(DMD):c.3663A>G (p.Val1221=) rs750549006 0.00002
NM_004006.3(DMD):c.4345-8C>T rs886044675 0.00002
NM_004006.3(DMD):c.4851T>G (p.Thr1617=) rs143719666 0.00002
NM_004006.3(DMD):c.5827A>G (p.Met1943Val) rs181849614 0.00002
NM_004006.3(DMD):c.7602C>T (p.Ala2534=) rs748309027 0.00002
NM_004006.3(DMD):c.8147A>G (p.Gln2716Arg) rs750640802 0.00002
NM_004006.3(DMD):c.8226A>G (p.Gln2742=) rs746514008 0.00002
NM_004006.3(DMD):c.8890G>T (p.Gly2964Cys) rs368114420 0.00002
NM_004187.5(KDM5C):c.2662C>T (p.Arg888Cys) rs376775932 0.00002
NM_004260.4(RECQL4):c.969C>T (p.Ser323=) rs745658597 0.00002
NM_004333.6(BRAF):c.138+17C>G rs756400234 0.00002
NM_004369.4(COL6A3):c.1293G>A (p.Pro431=) rs376912950 0.00002
NM_004369.4(COL6A3):c.2196G>A (p.Thr732=) rs768242367 0.00002
NM_004369.4(COL6A3):c.2343G>A (p.Ala781=) rs561804945 0.00002
NM_004369.4(COL6A3):c.3699C>T (p.Asp1233=) rs542411896 0.00002
NM_004369.4(COL6A3):c.8891C>T (p.Ala2964Val) rs563813743 0.00002
NM_004463.3(FGD1):c.771C>T (p.Pro257=) rs757589705 0.00002
NM_004482.4(GALNT3):c.892del (p.Tyr298fs) rs762936774 0.00002
NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser) rs118192252 0.00002
NM_004530.6(MMP2):c.105C>T (p.Ile35=) rs764055331 0.00002
NM_004560.4(ROR2):c.1236C>T (p.Ile412=) rs752218712 0.00002
NM_004565.3(PEX14):c.-7C>T rs774075581 0.00002
NM_004565.3(PEX14):c.170-4C>A rs764907398 0.00002
NM_004565.3(PEX14):c.824C>T (p.Ser275Leu) rs727504081 0.00002
NM_004813.4(PEX16):c.885C>T (p.Ser295=) rs200415017 0.00002
NM_004817.4(TJP2):c.2775G>A (p.Thr925=) rs374453976 0.00002
NM_004817.4(TJP2):c.2832G>A (p.Pro944=) rs191634088 0.00002
NM_004817.4(TJP2):c.972G>T (p.Gly324=) rs372333417 0.00002
NM_004820.5(CYP7B1):c.129C>T (p.Pro43=) rs1471365409 0.00002
NM_004984.4(KIF5A):c.927T>C (p.Tyr309=) rs755457098 0.00002
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326 0.00002
NM_005045.4(RELN):c.6106G>A (p.Ala2036Thr) rs371614773 0.00002
NM_005249.5(FOXG1):c.326C>T (p.Pro109Leu) rs398124203 0.00002
NM_005477.3(HCN4):c.2370T>C (p.Ser790=) rs747648596 0.00002
NM_005633.4(SOS1):c.39A>G (p.Glu13=) rs763337946 0.00002
NM_005670.4(EPM2A):c.620G>A (p.Arg207His) rs571938170 0.00002
NM_005857.5(ZMPSTE24):c.750G>A (p.Thr250=) rs750229142 0.00002
NM_005989.4(AKR1D1):c.336T>C (p.Asp112=) rs200261541 0.00002
NM_006019.4(TCIRG1):c.1710G>A (p.Thr570=) rs199696448 0.00002
NM_006059.4(LAMC3):c.3624G>A (p.Glu1208=) rs569440839 0.00002
NM_006261.5(PROP1):c.52G>A (p.Gly18Ser) rs775353413 0.00002
NM_006516.4(SLC2A1):c.322G>A (p.Val108Met) rs74323945 0.00002
NM_006662.3(SRCAP):c.8035G>A (p.Glu2679Lys) rs765033647 0.00002
NM_006899.5(IDH3B):c.1011-9T>C rs746209011 0.00002
NM_006907.4(PYCR1):c.616G>A (p.Gly206Arg) rs121918375 0.00002
NM_006922.4(SCN3A):c.1773T>C (p.Asn591=) rs76144052 0.00002
NM_007126.5(VCP):c.1863C>T (p.Gly621=) rs376510669 0.00002
NM_007126.5(VCP):c.2214A>G (p.Glu738=) rs374391034 0.00002
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334 0.00002
NM_007254.4(PNKP):c.1030-5C>T rs374745816 0.00002
NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=) rs786201784 0.00002
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp) rs80356876 0.00002
NM_007294.4(BRCA1):c.522A>G (p.Gln174=) rs765432756 0.00002
NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg) rs80357323 0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala) rs730881018 0.00002
NM_012210.4(TRIM32):c.1140C>T (p.Thr380=) rs142715198 0.00002
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His) rs121434447 0.00002
NM_012210.4(TRIM32):c.1530A>G (p.Leu510=) rs145728860 0.00002
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp) rs572052810 0.00002
NM_012210.4(TRIM32):c.807G>A (p.Leu269=) rs1184553729 0.00002
NM_012301.4(MAGI2):c.1530C>T (p.Tyr510=) rs201057526 0.00002
NM_012301.4(MAGI2):c.2830T>C (p.Ser944Pro) rs751956751 0.00002
NM_012301.4(MAGI2):c.878C>T (p.Thr293Ile) rs587780389 0.00002
NM_012469.4(PRPF6):c.1368G>A (p.Ala456=) rs139828718 0.00002
NM_012469.4(PRPF6):c.171G>C (p.Gly57=) rs749669162 0.00002
NM_012470.4(TNPO3):c.2542del (p.Tyr848fs) rs773574448 0.00002
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp) rs727502855 0.00002
NM_013382.7(POMT2):c.1654-8T>G rs780532724 0.00002
NM_014014.5(SNRNP200):c.6093-7C>A rs201143866 0.00002
NM_014140.4(SMARCAL1):c.2778G>A (p.Leu926=) rs373335368 0.00002
NM_014141.6(CNTNAP2):c.1603G>A (p.Glu535Lys) rs76475298 0.00002
NM_014251.3(SLC25A13):c.1506G>A (p.Pro502=) rs144494809 0.00002
NM_014251.3(SLC25A13):c.1695C>T (p.Cys565=) rs765192701 0.00002
NM_014319.5(LEMD3):c.636G>A (p.Gly212=) rs771253349 0.00002
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855 0.00002
NM_014363.6(SACS):c.7466C>A (p.Pro2489His) rs766553685 0.00002
NM_014780.5(CUL7):c.3861C>T (p.Ala1287=) rs745678508 0.00002
NM_014795.4(ZEB2):c.2766A>T (p.Pro922=) rs185223937 0.00002
NM_014956.5(CEP164):c.901C>T (p.Arg301Ter) rs780849567 0.00002
NM_015072.5(TTLL5):c.1435C>T (p.Arg479Ter) rs753018563 0.00002
NM_015102.5(NPHP4):c.3348C>T (p.Ile1116=) rs751938743 0.00002
NM_015141.4(GPD1L):c.787C>T (p.Leu263=) rs754888410 0.00002
NM_015294.6(TRIM37):c.2280G>A (p.Ser760=) rs767616734 0.00002
NM_015311.3(OBSL1):c.1215C>T (p.Asp405=) rs564010604 0.00002
NM_015340.4(LARS2):c.556C>T (p.Gln186Ter) rs1163473923 0.00002
NM_015559.3(SETBP1):c.1933G>A (p.Glu645Lys) rs770454352 0.00002
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr) rs201067821 0.00002
NM_017777.4(MKS1):c.279C>T (p.Tyr93=) rs187870415 0.00002
NM_017777.4(MKS1):c.644+9C>T rs754404940 0.00002
NM_017777.4(MKS1):c.958G>A (p.Val320Ile) rs386834053 0.00002
NM_017780.4(CHD7):c.3487A>G (p.Met1163Val) rs886044534 0.00002
NM_017780.4(CHD7):c.7346G>C (p.Arg2449Thr) rs727503870 0.00002
NM_018006.5(TRMU):c.1135G>T (p.Gly379Cys) rs773023974 0.00002
NM_018006.5(TRMU):c.18C>T (p.His6=) rs527315924 0.00002
NM_018006.5(TRMU):c.83-4G>A rs369925943 0.00002
NM_018136.5(ASPM):c.2103G>A (p.Gln701=) rs370972881 0.00002
NM_018136.5(ASPM):c.2205G>A (p.Glu735=) rs755350285 0.00002
NM_018136.5(ASPM):c.6849C>G (p.Leu2283=) rs756622578 0.00002
NM_018255.4(ELP2):c.1384C>T (p.Arg462Trp) rs767713084 0.00002
NM_018668.5(VPS33B):c.1014C>T (p.His338=) rs765002211 0.00002
NM_018668.5(VPS33B):c.1225+5G>C rs398122407 0.00002
NM_018668.5(VPS33B):c.198A>G (p.Leu66=) rs1416595652 0.00002
NM_018965.4(TREM2):c.677-6T>C rs199910080 0.00002
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer) rs119103217 0.00002
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664 0.00002
NM_020247.5(COQ8A):c.1742dup (p.Ser582fs) rs772127266 0.00002
NM_020451.3(SELENON):c.883G>A (p.Glu295Lys) rs978886878 0.00002
NM_020631.6(PLEKHG5):c.2433C>T (p.Arg811=) rs759272412 0.00002
NM_020754.4(ARHGAP31):c.2412G>A (p.Pro804=) rs776194035 0.00002
NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp) rs532620254 0.00002
NM_020822.3(KCNT1):c.2949C>T (p.Phe983=) rs764574987 0.00002
NM_020975.6(RET):c.867+4del rs398124368 0.00002
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr) rs773774134 0.00002
NM_022436.3(ABCG5):c.282G>A (p.Thr94=) rs756339433 0.00002
NM_022436.3(ABCG5):c.511G>A (p.Val171Ile) rs777411661 0.00002
NM_022436.3(ABCG5):c.804C>T (p.Phe268=) rs554183818 0.00002
NM_022437.3(ABCG8):c.1557C>T (p.Ala519=) rs368114257 0.00002
NM_022437.3(ABCG8):c.1596C>T (p.Phe532=) rs374820261 0.00002
NM_022437.3(ABCG8):c.165+10C>T rs574722652 0.00002
NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser) rs548098742 0.00002
NM_022437.3(ABCG8):c.2013A>G (p.Gln671=) rs373862876 0.00002
NM_022437.3(ABCG8):c.695-7T>C rs374648568 0.00002
NM_022445.4(TPK1):c.185+1G>A rs747753388 0.00002
NM_022455.5(NSD1):c.3697C>T (p.Arg1233Trp) rs771467409 0.00002
NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala) rs754309202 0.00002
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110 0.00002
NM_024408.4(NOTCH2):c.4002C>G (p.Pro1334=) rs1390174762 0.00002
NM_024596.5(MCPH1):c.671-3C>T rs374793979 0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641 0.00002
NM_024757.5(EHMT1):c.183C>T (p.Ser61=) rs774448433 0.00002
NM_024809.5(TCTN2):c.1506-2A>G rs374349989 0.00002
NM_025193.4(HSD3B7):c.431+7_431+8insA rs1343784849 0.00002
NM_025219.3(DNAJC5):c.444C>T (p.Phe148=) rs772254851 0.00002
NM_031935.3(HMCN1):c.8764C>A (p.Leu2922Ile) rs200871004 0.00002
NM_032119.4(ADGRV1):c.1189A>G (p.Ser397Gly) rs377201437 0.00002
NM_032119.4(ADGRV1):c.1210G>A (p.Val404Ile) rs780748586 0.00002
NM_032119.4(ADGRV1):c.14304G>A (p.Ser4768=) rs373822878 0.00002
NM_032119.4(ADGRV1):c.14931A>G (p.Leu4977=) rs760841840 0.00002
NM_032119.4(ADGRV1):c.1675T>C (p.Tyr559His) rs779671690 0.00002
NM_032119.4(ADGRV1):c.17933A>G (p.His5978Arg) rs756460900 0.00002
NM_032119.4(ADGRV1):c.18348C>T (p.Ser6116=) rs774124713 0.00002
NM_032119.4(ADGRV1):c.4550G>T (p.Arg1517Ile) rs756555904 0.00002
NM_032119.4(ADGRV1):c.4975G>A (p.Glu1659Lys) rs775893405 0.00002
NM_032119.4(ADGRV1):c.5835G>A (p.Lys1945=) rs569899625 0.00002
NM_032119.4(ADGRV1):c.6524T>C (p.Val2175Ala) rs771811961 0.00002
NM_032119.4(ADGRV1):c.8004C>T (p.Asp2668=) rs369591434 0.00002
NM_032409.3(PINK1):c.434C>T (p.Thr145Met) rs45604240 0.00002
NM_032575.3(GLIS2):c.15C>T (p.Asp5=) rs751898309 0.00002
NM_033100.4(CDHR1):c.833C>T (p.Pro278Leu) rs543254581 0.00002
NM_033380.3(COL4A5):c.2295A>G (p.Pro765=) rs141247183 0.00002
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln) rs371265106 0.00002
NM_078470.6(COX15):c.933C>G (p.Ile311Met) rs556026559 0.00002
NM_080680.3(COL11A2):c.1380G>A (p.Gly460=) rs373168555 0.00002
NM_080680.3(COL11A2):c.2637T>C (p.Pro879=) rs199677738 0.00002
NM_080680.3(COL11A2):c.5106G>A (p.Thr1702=) rs752823488 0.00002
NM_080680.3(COL11A2):c.844G>A (p.Val282Met) rs146432857 0.00002
NM_080916.3(DGUOK):c.256-6C>T rs568816337 0.00002
NM_080916.3(DGUOK):c.337T>C (p.Phe113Leu) rs141810774 0.00002
NM_130468.4(CHST14):c.941G>A (p.Arg314Gln) rs556002453 0.00002
NM_133433.4(NIPBL):c.126T>C (p.Phe42=) rs727504046 0.00002
NM_133642.5(LARGE1):c.1132-8C>T rs748964975 0.00002
NM_138694.4(PKHD1):c.10968A>G (p.Glu3656=) rs1303599332 0.00002
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=) rs375603741 0.00002
NM_138694.4(PKHD1):c.624T>C (p.His208=) rs767511678 0.00002
NM_138694.4(PKHD1):c.668-3C>T rs775002568 0.00002
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg) rs398124497 0.00002
NM_138694.4(PKHD1):c.873C>T (p.Thr291=) rs769773725 0.00002
NM_139058.3(ARX):c.1272G>A (p.Pro424=) rs398124507 0.00002
NM_139058.3(ARX):c.300G>A (p.Ala100=) rs797045294 0.00002
NM_139058.3(ARX):c.306G>T (p.Ala102=) rs587783196 0.00002
NM_139319.3(SLC17A8):c.1578C>T (p.Asp526=) rs141294063 0.00002
NM_145200.5(CABP4):c.531C>A (p.Ile177=) rs754194692 0.00002
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His) rs771667880 0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 0.00002
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys) rs759088490 0.00002
NM_153026.3(PRICKLE1):c.2262C>G (p.Leu754=) rs727504104 0.00002
NM_153240.5(NPHP3):c.1357C>T (p.Leu453=) rs535110862 0.00002
NM_170707.4(LMNA):c.1047G>A (p.Arg349=) rs147015659 0.00002
NM_170707.4(LMNA):c.1098G>A (p.Lys366=) rs57901307 0.00002
NM_170707.4(LMNA):c.1185G>A (p.Ser395=) rs397517890 0.00002
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr) rs1060502216 0.00002
NM_170707.4(LMNA):c.647G>A (p.Arg216His) rs757041809 0.00002
NM_172107.4(KCNQ2):c.1842C>T (p.Pro614=) rs552807375 0.00002
NM_173495.3(PTCHD1):c.2041G>A (p.Val681Ile) rs150912089 0.00002
NM_176787.5(PIGN):c.787C>A (p.His263Asn) rs376934090 0.00002
NM_181332.3(NLGN4X):c.579C>T (p.Tyr193=) rs398124366 0.00002
NM_182961.4(SYNE1):c.11001C>T (p.Asp3667=) rs750318922 0.00002
NM_182961.4(SYNE1):c.13209G>A (p.Ser4403=) rs773593843 0.00002
NM_182961.4(SYNE1):c.13299C>T (p.His4433=) rs763090658 0.00002
NM_182961.4(SYNE1):c.16553G>A (p.Arg5518Gln) rs150604289 0.00002
NM_182961.4(SYNE1):c.18972+4T>C rs774096623 0.00002
NM_182961.4(SYNE1):c.3837+8T>C rs377391406 0.00002
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp) rs368790049 0.00002
NM_201384.3(PLEC):c.10207C>T (p.Arg3403Trp) rs542488020 0.00002
NM_201384.3(PLEC):c.7741C>T (p.Arg2581Trp) rs782485083 0.00002
NM_201384.3(PLEC):c.825C>T (p.Asn275=) rs113133985 0.00002
NM_206933.4(USH2A):c.11124C>G (p.Pro3708=) rs773828586 0.00002
NM_206933.4(USH2A):c.15520-1G>A rs767265734 0.00002
NM_206933.4(USH2A):c.4071G>A (p.Thr1357=) rs745962568 0.00002
NM_206933.4(USH2A):c.792G>A (p.Glu264=) rs886043440 0.00002
NM_207118.3(GTF2H5):c.166C>T (p.Arg56Ter) rs121434364 0.00002
NM_213622.4(STAMBP):c.1270C>T (p.Arg424Ter) rs397509390 0.00002
NC_000002.12:g.178728782T>C rs1025136671 0.00001
NC_000007.14:g.24744705G>A rs754443945 0.00001
NC_000011.10:g.47335872C>T rs398123280 0.00001
NM_000016.6(ACADM):c.253G>T (p.Gly85Cys) rs398123075 0.00001
NM_000016.6(ACADM):c.447G>A (p.Met149Ile) rs121434277 0.00001
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys) rs373715782 0.00001
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp) rs533055438 0.00001
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016 0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791 0.00001
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro) rs398123090 0.00001
NM_000018.4(ACADVL):c.753-2A>C rs398123092 0.00001
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841 0.00001
NM_000020.3(ACVRL1):c.303G>A (p.Leu101=) rs376417482 0.00001
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys) rs748936034 0.00001
NM_000023.4(SGCA):c.80C>T (p.Thr27Met) rs565069721 0.00001
NM_000035.4(ALDOB):c.1014G>A (p.Ala338=) rs546735701 0.00001
NM_000035.4(ALDOB):c.538C>A (p.Gln180Lys) rs574635615 0.00001
NM_000048.4(ASL):c.332G>A (p.Arg111Gln) rs561367199 0.00001
NM_000051.4(ATM):c.2922-8T>A rs545892367 0.00001
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter) rs587778080 0.00001
NM_000051.4(ATM):c.8987+3G>A rs56360226 0.00001
NM_000053.4(ATP7B):c.3107dup (p.Arg1038fs) rs886043423 0.00001
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=) rs375007352 0.00001
NM_000059.4(BRCA2):c.3880T>C (p.Leu1294=) rs786201236 0.00001
NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn) rs397507713 0.00001
NM_000059.4(BRCA2):c.6288T>G (p.Pro2096=) rs372527810 0.00001
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile) rs80359127 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493 0.00001
NM_000070.3(CAPN3):c.1069C>T (p.Arg357Trp) rs774273767 0.00001
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln) rs988027905 0.00001
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu) rs139836397 0.00001
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys) rs777483913 0.00001
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132 0.00001
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976 0.00001
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys) rs1274808359 0.00001
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871 0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001 0.00001
NM_000070.3(CAPN3):c.1650T>C (p.Pro550=) rs766405190 0.00001
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512 0.00001
NM_000070.3(CAPN3):c.2288A>G (p.Tyr763Cys) rs764459544 0.00001
NM_000070.3(CAPN3):c.264T>G (p.Phe88Leu) rs760626912 0.00001
NM_000070.3(CAPN3):c.633G>C (p.Lys211Asn) rs779701414 0.00001
NM_000081.4(LYST):c.7780+2C>T rs760108842 0.00001
NM_000082.4(ERCC8):c.-3G>A rs199968351 0.00001
NM_000082.4(ERCC8):c.42C>T (p.Asp14=) rs886043215 0.00001
NM_000082.4(ERCC8):c.637T>C (p.Leu213=) rs752757232 0.00001
NM_000088.4(COL1A1):c.2715C>T (p.Gly905=) rs779337831 0.00001
NM_000088.4(COL1A1):c.3060C>T (p.Ala1020=) rs751239116 0.00001
NM_000089.4(COL1A2):c.2944-4A>T rs143220941 0.00001
NM_000090.4(COL3A1):c.792A>G (p.Gly264=) rs113304344 0.00001
NM_000091.5(COL4A3):c.4351C>G (p.His1451Asp) rs1291948462 0.00001
NM_000092.5(COL4A4):c.264A>G (p.Ser88=) rs746574978 0.00001
NM_000093.5(COL5A1):c.1752G>A (p.Glu584=) rs376865199 0.00001
NM_000093.5(COL5A1):c.2593-3C>T rs199895142 0.00001
NM_000095.3(COMP):c.1110G>A (p.Ala370=) rs780972997 0.00001
NM_000098.3(CPT2):c.461A>G (p.Asn154Ser) rs772269793 0.00001
NM_000110.4(DPYD):c.127_134del (p.Lys42_Arg43insTer) rs1207177925 0.00001
NM_000117.3(EMD):c.149C>A (p.Pro50His) rs782021157 0.00001
NM_000117.3(EMD):c.385G>A (p.Ala129Thr) rs782768362 0.00001
NM_000124.4(ERCC6):c.1452C>T (p.Asp484=) rs762734699 0.00001
NM_000124.4(ERCC6):c.1526+1G>T rs371739894 0.00001
NM_000124.4(ERCC6):c.1888T>C (p.Leu630=) rs747204355 0.00001
NM_000124.4(ERCC6):c.813C>T (p.Phe271=) rs764319566 0.00001
NM_000132.4(F8):c.1660A>G (p.Ser554Gly) rs137852419 0.00001
NM_000137.4(FAH):c.237G>A (p.Lys79=) rs1490117712 0.00001
NM_000137.4(FAH):c.296A>G (p.Asp99Gly) rs547847694 0.00001
NM_000138.5(FBN1):c.75G>A (p.Ala25=) rs543230518 0.00001
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466 0.00001
NM_000142.5(FGFR3):c.1263A>G (p.Arg421=) rs866774930 0.00001
NM_000142.5(FGFR3):c.150C>T (p.Val50=) rs750641928 0.00001
NM_000142.5(FGFR3):c.666C>T (p.Asp222=) rs201081464 0.00001
NM_000143.4(FH):c.1020T>A (p.Asn340Lys) rs398123159 0.00001
NM_000143.4(FH):c.1255T>C (p.Ser419Pro) rs200004220 0.00001
NM_000143.4(FH):c.1301G>A (p.Cys434Tyr) rs398123164 0.00001
NM_000143.4(FH):c.208G>A (p.Ala70Thr) rs587782207 0.00001
NM_000152.5(GAA):c.1047C>T (p.Ser349=) rs138262940 0.00001
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys) rs372486238 0.00001
NM_000152.5(GAA):c.1347G>A (p.Ser449=) rs756938942 0.00001
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148 0.00001
NM_000152.5(GAA):c.1410C>T (p.Asn470=) rs886043068 0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720 0.00001
NM_000152.5(GAA):c.1842G>A (p.Thr614=) rs373955374 0.00001
NM_000152.5(GAA):c.444C>T (p.Tyr148=) rs886043112 0.00001
NM_000152.5(GAA):c.615G>A (p.Pro205=) rs141427808 0.00001
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700 0.00001
NM_000152.5(GAA):c.692+9T>C rs367661167 0.00001
NM_000152.5(GAA):c.702G>A (p.Thr234=) rs755337511 0.00001
NM_000152.5(GAA):c.834G>A (p.Leu278=) rs776314424 0.00001
NM_000152.5(GAA):c.900G>A (p.Ala300=) rs759425304 0.00001
NM_000155.4(GALT):c.1014C>G (p.Gly338=) rs111033811 0.00001
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp) rs111033666 0.00001
NM_000155.4(GALT):c.564+7G>A rs760189807 0.00001
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736 0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217 0.00001
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser) rs121908311 0.00001
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys) rs398123532 0.00001
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile) rs381737 0.00001
NM_000158.4(GBE1):c.1444C>G (p.Gln482Glu) rs758786811 0.00001
NM_000163.5(GHR):c.1686A>G (p.Gln562=) rs145428904 0.00001
NM_000169.3(GLA):c.124A>C (p.Met42Leu) rs797044613 0.00001
NM_000169.3(GLA):c.247G>A (p.Asp83Asn) rs782722577 0.00001
NM_000169.3(GLA):c.870G>C (p.Met290Ile) rs869312438 0.00001
NM_000179.3(MSH6):c.742C>G (p.Arg248Gly) rs63749980 0.00001
NM_000180.4(GUCY2D):c.1851G>A (p.Val617=) rs754581545 0.00001
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn) rs398123234 0.00001
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) rs104894640 0.00001
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn) rs368454909 0.00001
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) rs794727896 0.00001
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239 0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878 0.00001
NM_000214.3(JAG1):c.1101C>T (p.Thr367=) rs766771784 0.00001
NM_000214.3(JAG1):c.1308C>T (p.Cys436=) rs764485729 0.00001
NM_000214.3(JAG1):c.1704C>T (p.Arg568=) rs144985667 0.00001
NM_000214.3(JAG1):c.1866G>A (p.Thr622=) rs140624746 0.00001
NM_000214.3(JAG1):c.1971C>T (p.Asp657=) rs368661822 0.00001
NM_000214.3(JAG1):c.2148C>T (p.Asn716=) rs550565756 0.00001
NM_000214.3(JAG1):c.2451C>T (p.Cys817=) rs747532570 0.00001
NM_000214.3(JAG1):c.2559C>T (p.Ala853=) rs201234393 0.00001
NM_000214.3(JAG1):c.2859T>C (p.Tyr953=) rs1388481192 0.00001
NM_000214.3(JAG1):c.3342C>T (p.Asn1114=) rs759853433 0.00001
NM_000214.3(JAG1):c.702C>T (p.Cys234=) rs202109974 0.00001
NM_000214.3(JAG1):c.915G>A (p.Pro305=) rs371165309 0.00001
NM_000218.3(KCNQ1):c.1685+9G>A rs545535640 0.00001
NM_000231.3(SGCG):c.1-8C>T rs745599370 0.00001
NM_000231.3(SGCG):c.267A>G (p.Pro89=) rs149595403 0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_000235.4(LIPA):c.1056C>T (p.Asp352=) rs1564748504 0.00001
NM_000235.4(LIPA):c.1128C>T (p.Asp376=) rs200420117 0.00001
NM_000235.4(LIPA):c.279T>C (p.Ser93=) rs1011619050 0.00001
NM_000235.4(LIPA):c.870G>A (p.Val290=) rs756950169 0.00001
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) rs63749909 0.00001
NM_000249.4(MLH1):c.222T>C (p.Asp74=) rs755073786 0.00001
NM_000251.3(MSH2):c.-9G>C rs547444746 0.00001
NM_000255.4(MMUT):c.1108A>C (p.Thr370Pro) rs368790885 0.00001
NM_000257.4(MYH7):c.2472C>T (p.Val824=) rs397516150 0.00001
NM_000257.4(MYH7):c.4680G>A (p.Arg1560=) rs771236158 0.00001
NM_000257.4(MYH7):c.4689G>A (p.Leu1563=) rs770477774 0.00001
NM_000260.4(MYO7A):c.1056G>A (p.Leu352=) rs886044867 0.00001
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511 0.00001
NM_000260.4(MYO7A):c.1299C>T (p.Ile433=) rs782163200 0.00001
NM_000260.4(MYO7A):c.2025C>T (p.Arg675=) rs797044658 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000260.4(MYO7A):c.3582C>T (p.Leu1194=) rs886044828 0.00001
NM_000271.5(NPC1):c.1947+5G>C rs770321568 0.00001
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu) rs143124972 0.00001
NM_000271.5(NPC1):c.3478-7A>C rs767148121 0.00001
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs) rs750323164 0.00001
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805 0.00001
NM_000271.5(NPC1):c.3816C>T (p.Arg1272=) rs375797728 0.00001
NM_000271.5(NPC1):c.57+7G>A rs886042901 0.00001
NM_000275.3(OCA2):c.1045-9T>G rs755604671 0.00001
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly) rs147816326 0.00001
NM_000275.3(OCA2):c.1875A>C (p.Lys625Asn) rs1455447337 0.00001
NM_000277.3(PAH):c.1199+17G>A rs62508613 0.00001
NM_000277.3(PAH):c.169G>A (p.Glu57Lys) rs140945592 0.00001
NM_000277.3(PAH):c.520A>G (p.Ile174Val) rs199475632 0.00001
NM_000285.4(PEPD):c.969T>C (p.Gly323=) rs1568445341 0.00001
NM_000287.4(PEX6):c.1231A>G (p.Met411Val) rs752177240 0.00001
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter) rs1010184002 0.00001
NM_000287.4(PEX6):c.348C>T (p.Leu116=) rs746578841 0.00001
NM_000295.4(SERPINA1):c.1078G>A (p.Ala360Thr) rs1802959 0.00001
NM_000295.5(SERPINA1):c.1065+10C>T rs56388024 0.00001
NM_000295.5(SERPINA1):c.646+1G>T rs751235320 0.00001
NM_000295.5(SERPINA1):c.646+5_646+6del rs779432340 0.00001
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569 0.00001
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141 0.00001
NM_000310.4(PPT1):c.433G>C (p.Gly145Arg) rs369186379 0.00001
NM_000318.3(PEX2):c.624dup (p.Pro209fs) rs1438831421 0.00001
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) rs61755783 0.00001
NM_000322.5(PRPH2):c.828+3A>T rs281865373 0.00001
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala) rs80338792 0.00001
NM_000335.5(SCN5A):c.2013C>T (p.Ser671=) rs751050999 0.00001
NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg) rs45475899 0.00001
NM_000335.5(SCN5A):c.5433G>A (p.Ser1811=) rs780761880 0.00001
NM_000337.6(SGCD):c.270C>T (p.Tyr90=) rs749273088 0.00001
NM_000337.6(SGCD):c.45T>A (p.Pro15=) rs727505092 0.00001
NM_000337.6(SGCD):c.768G>A (p.Thr256=) rs376141942 0.00001
NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly) rs61751420 0.00001
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile) rs575453437 0.00001
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr) rs61749437 0.00001
NM_000350.3(ABCA4):c.3576C>T (p.Val1192=) rs187965758 0.00001
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) rs61750135 0.00001
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu) rs62646860 0.00001
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368 0.00001
NM_000350.3(ABCA4):c.4407C>T (p.Asn1469=) rs750526487 0.00001
NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro) rs377311148 0.00001
NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys) rs61750646 0.00001
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=) rs61748520 0.00001
NM_000350.3(ABCA4):c.769-3C>T rs368010652 0.00001
NM_000352.6(ABCC8):c.279C>A (p.Ile93=) rs550990673 0.00001
NM_000362.5(TIMP3):c.255A>G (p.Glu85=) rs373801773 0.00001
NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser) rs397514864 0.00001
NM_000368.5(TSC1):c.1775C>T (p.Thr592Met) rs775869914 0.00001
NM_000368.5(TSC1):c.2932C>G (p.Leu978Val) rs397514859 0.00001
NM_000372.5(TYR):c.658C>T (p.Gln220Ter) rs797046083 0.00001
NM_000388.4(CASR):c.3132G>A (p.Val1044=) rs755277801 0.00001
NM_000388.4(CASR):c.537A>G (p.Gln179=) rs200129212 0.00001
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155 0.00001
NM_000391.4(TPP1):c.887-10A>G rs755445790 0.00001
NM_000392.5(ABCC2):c.2077G>A (p.Gly693Arg) rs765570396 0.00001
NM_000392.5(ABCC2):c.2095-7C>T rs774902843 0.00001
NM_000392.5(ABCC2):c.2260del (p.Ile754fs) rs1564687941 0.00001
NM_000392.5(ABCC2):c.330A>G (p.Thr110=) rs750755532 0.00001
NM_000392.5(ABCC2):c.3873G>A (p.Pro1291=) rs765304225 0.00001
NM_000392.5(ABCC2):c.4398G>A (p.Ala1466=) rs780515921 0.00001
NM_000392.5(ABCC2):c.855T>C (p.Asp285=) rs769700101 0.00001
NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys) rs371546950 0.00001
NM_000414.4(HSD17B4):c.1210-11C>G rs779466683 0.00001
NM_000414.4(HSD17B4):c.1625G>A (p.Arg542Lys) rs546653967 0.00001
NM_000414.4(HSD17B4):c.501A>C (p.Ala167=) rs776640310 0.00001
NM_000426.4(LAMA2):c.1580G>A (p.Cys527Tyr) rs121913574 0.00001
NM_000426.4(LAMA2):c.2584T>C (p.Cys862Arg) rs121913573 0.00001
NM_000430.4(PAFAH1B1):c.570C>T (p.Gly190=) rs758682063 0.00001
NM_000434.4(NEU1):c.615G>A (p.Gln205=) rs781137251 0.00001
NM_000434.4(NEU1):c.727G>A (p.Gly243Arg) rs104893983 0.00001
NM_000440.3(PDE6A):c.1620G>A (p.Glu540=) rs727504072 0.00001
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454 0.00001
NM_000443.4(ABCB4):c.1006-1G>T rs772823352 0.00001
NM_000443.4(ABCB4):c.1119+8A>C rs1471180323 0.00001
NM_000443.4(ABCB4):c.1233C>A (p.Ile411=) rs916276498 0.00001
NM_000443.4(ABCB4):c.1723C>T (p.Leu575=) rs748044865 0.00001
NM_000443.4(ABCB4):c.174G>A (p.Ser58=) rs772771936 0.00001
NM_000443.4(ABCB4):c.1821A>C (p.Val607=) rs546820262 0.00001
NM_000443.4(ABCB4):c.2165G>C (p.Gly722Ala) rs779885518 0.00001
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu) rs141677867 0.00001
NM_000443.4(ABCB4):c.240G>A (p.Glu80=) rs8187787 0.00001
NM_000443.4(ABCB4):c.2730C>T (p.Thr910=) rs978222245 0.00001
NM_000443.4(ABCB4):c.3033T>C (p.Phe1011=) rs1297237099 0.00001
NM_000443.4(ABCB4):c.3258C>T (p.Tyr1086=) rs1435564748 0.00001
NM_000443.4(ABCB4):c.3326G>A (p.Arg1109Lys) rs757931203 0.00001
NM_000443.4(ABCB4):c.3486+1G>A rs764513998 0.00001
NM_000443.4(ABCB4):c.3633+9G>A rs1554396917 0.00001
NM_000444.6(PHEX):c.*231A>G rs946863800 0.00001
NM_000451.4(SHOX):c.440G>A (p.Arg147His) rs886043634 0.00001
NM_000451.4(SHOX):c.702G>A (p.Ala234=) rs576542942 0.00001
NM_000451.4(SHOX):c.723C>T (p.Phe241=) rs886042718 0.00001
NM_000452.3(SLC10A2):c.45T>C (p.Ser15=) rs374581163 0.00001
NM_000452.3(SLC10A2):c.753C>G (p.Pro251=) rs1172213655 0.00001
NM_000455.5(STK11):c.579C>T (p.Ser193=) rs730881961 0.00001
NM_000458.4(HNF1B):c.96G>A (p.Glu32=) rs778229703 0.00001
NM_000463.3(UGT1A1):c.1161C>T (p.Pro387=) rs763217521 0.00001
NM_000466.3(PEX1):c.3208-1G>A rs1057517518 0.00001
NM_000466.3(PEX1):c.3633T>C (p.Ser1211=) rs753334806 0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) rs199590449 0.00001
NM_000478.6(ALPL):c.920C>T (p.Pro307Leu) rs768555495 0.00001
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) rs74315479 0.00001
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp) rs74315480 0.00001
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461 0.00001
NM_000492.4(CFTR):c.1047G>A (p.Ala349=) rs200520623 0.00001
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224 0.00001
NM_000492.4(CFTR):c.164+12T>C rs121908790 0.00001
NM_000492.4(CFTR):c.2055A>G (p.Gln685=) rs1457520634 0.00001
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly) rs397508436 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000492.4(CFTR):c.3588A>T (p.Ser1196=) rs759202870 0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) rs397508763 0.00001
NM_000493.4(COL10A1):c.1392G>A (p.Gly464=) rs886042553 0.00001
NM_000497.4(CYP11B1):c.595+1G>A rs1264073726 0.00001
NM_000520.6(HEXA):c.536A>G (p.His179Arg) rs747372270 0.00001
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) rs200750564 0.00001
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128 0.00001
NM_000540.3(RYR1):c.11811G>A (p.Ser3937=) rs794727946 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter) rs1432807966 0.00001
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met) rs398123471 0.00001
NM_000540.3(RYR1):c.2037C>A (p.Thr679=) rs571569206 0.00001
NM_000540.3(RYR1):c.4230C>T (p.Leu1410=) rs750872878 0.00001
NM_000540.3(RYR1):c.624C>T (p.Cys208=) rs746914281 0.00001
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816 0.00001
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His) rs121918594 0.00001
NM_000540.3(RYR1):c.7608G>A (p.Leu2536=) rs201686887 0.00001
NM_000543.5(SMPD1):c.1341-9T>C rs528939343 0.00001
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe) rs200652683 0.00001
NM_000543.5(SMPD1):c.1692C>T (p.Gly564=) rs369787650 0.00001
NM_000543.5(SMPD1):c.319-5T>C rs958654789 0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys) rs200763423 0.00001
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu) rs556155962 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000548.5(TSC2):c.2823C>T (p.Asn941=) rs750806272 0.00001
NM_000548.5(TSC2):c.3366T>C (p.Arg1122=) rs778352969 0.00001
NM_000548.5(TSC2):c.3918C>T (p.Gly1306=) rs368712041 0.00001
NM_000548.5(TSC2):c.4746C>T (p.Ile1582=) rs751305758 0.00001
NM_000548.5(TSC2):c.5332G>A (p.Ala1778Thr) rs1245934608 0.00001
NM_000548.5(TSC2):c.576C>T (p.Asp192=) rs761704292 0.00001
NM_000548.5(TSC2):c.849-8A>G rs765336852 0.00001
NM_000702.4(ATP1A2):c.3034+6C>A rs574788908 0.00001
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys) rs182923857 0.00001
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp) rs137852873 0.00001
NM_000709.4(BCKDHA):c.929C>G (p.Thr310Arg) rs137852875 0.00001
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys) rs398123515 0.00001
NM_000719.7(CACNA1C):c.3375C>T (p.Ile1125=) rs398123521 0.00001
NM_000719.7(CACNA1C):c.363C>T (p.Val121=) rs886042281 0.00001
NM_000719.7(CACNA1C):c.5202C>T (p.Gly1734=) rs769124319 0.00001
NM_000719.7(CACNA1C):c.5772G>C (p.Leu1924=) rs757373786 0.00001
NM_000719.7(CACNA1C):c.6090C>T (p.His2030=) rs750835120 0.00001
NM_000719.7(CACNA1C):c.6338A>C (p.Asp2113Ala) rs972053240 0.00001
NM_000726.5(CACNB4):c.288C>T (p.Ala96=) rs558998873 0.00001
NM_000742.4(CHRNA2):c.873C>T (p.Ser291=) rs76140563 0.00001
NM_000744.7(CHRNA4):c.1634C>T (p.Thr545Met) rs121912282 0.00001
NM_000769.1(CYP2C19):c.1297C>T (p.Arg433Trp) rs56337013 0.00001
NM_000780.4(CYP7A1):c.157C>T (p.Leu53Phe) rs189424028 0.00001
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp) rs573951598 0.00001
NM_000784.4(CYP27A1):c.126A>G (p.Gly42=) rs1238340088 0.00001
NM_000784.4(CYP27A1):c.1503G>A (p.Leu501=) rs1336081746 0.00001
NM_000784.4(CYP27A1):c.256-3C>T rs1559391389 0.00001
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr) rs759003992 0.00001
NM_000843.4(GRM6):c.1695G>A (p.Thr565=) rs794727907 0.00001
NM_000875.5(IGF1R):c.318C>T (p.Ile106=) rs1267154320 0.00001
NM_000883.4(IMPDH1):c.159C>T (p.Asp53=) rs768265149 0.00001
NM_001002755.4(NFU1):c.103C>T (p.Gln35Ter) rs1339043479 0.00001
NM_001005242.3(PKP2):c.1379-1998C>T rs151212477 0.00001
NM_001005361.3(DNM2):c.216G>A (p.Gln72=) rs368075301 0.00001
NM_001008216.2(GALE):c.101A>G (p.Asn34Ser) rs121908046 0.00001
NM_001017420.3(ESCO2):c.738A>G (p.Val246=) rs886044291 0.00001
NM_001035.3(RYR2):c.10155A>G (p.Leu3385=) rs543120030 0.00001
NM_001035.3(RYR2):c.13665C>T (p.Ile4555=) rs375213838 0.00001
NM_001035.3(RYR2):c.1527C>T (p.Ser509=) rs886042568 0.00001
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=) rs397516526 0.00001
NM_001035.3(RYR2):c.4752G>A (p.Pro1584=) rs780111656 0.00001
NM_001035.3(RYR2):c.5712G>A (p.Leu1904=) rs377763336 0.00001
NM_001037.5(SCN1B):c.273G>A (p.Val91=) rs16969926 0.00001
NM_001040142.2(SCN2A):c.2016+10A>G rs886042771 0.00001
NM_001040142.2(SCN2A):c.3210C>T (p.Asp1070=) rs187731029 0.00001
NM_001040142.2(SCN2A):c.5427G>A (p.Ala1809=) rs1177406324 0.00001
NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter) rs762813092 0.00001
NM_001042472.3(ABHD12):c.66C>T (p.Ser22=) rs1261172926 0.00001
NM_001048166.1(STIL):c.3838C>T (p.Arg1280Cys) rs199634446 0.00001
NM_001048174.2(MUTYH):c.493-5A>G rs758377868 0.00001
NM_001077365.2(POMT1):c.1443C>T (p.His481=) rs139415150 0.00001
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) rs119462987 0.00001
NM_001077365.2(POMT1):c.345G>A (p.Ser115=) rs147212285 0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982 0.00001
NM_001077365.2(POMT1):c.699+67G>A rs776061161 0.00001
NM_001079802.2(FKTN):c.180A>G (p.Lys60=) rs886042513 0.00001
NM_001079802.2(FKTN):c.198C>G (p.Ser66=) rs367868644 0.00001
NM_001079802.2(FKTN):c.21C>T (p.Asn7=) rs564632018 0.00001
NM_001079802.2(FKTN):c.357A>G (p.Leu119=) rs760933616 0.00001
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116 0.00001
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln) rs119463992 0.00001
NM_001083961.2(WDR62):c.2040T>C (p.His680=) rs765451882 0.00001
NM_001083961.2(WDR62):c.525C>T (p.Tyr175=) rs779093591 0.00001
NM_001099922.3(ALG13):c.2607G>A (p.Ala869=) rs746842727 0.00001
NM_001101426.4(CRPPA):c.645A>G (p.Gln215=) rs532057629 0.00001
NM_001101426.4(CRPPA):c.840A>G (p.Arg280=) rs148054819 0.00001
NM_001110556.2(FLNA):c.2472C>T (p.Phe824=) rs782669943 0.00001
NM_001110556.2(FLNA):c.3147C>T (p.Gly1049=) rs398123615 0.00001
NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys) rs781878646 0.00001
NM_001110792.2(MECP2):c.1440G>A (p.Arg480=) rs267608633 0.00001
NM_001110792.2(MECP2):c.474C>T (p.Gly158=) rs61748386 0.00001
NM_001126121.2(SLC25A19):c.590G>T (p.Ser197Ile) rs769399113 0.00001
NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=) rs886043622 0.00001
NM_001127222.2(CACNA1A):c.6141G>A (p.Pro2047=) rs760682283 0.00001
NM_001127222.2(CACNA1A):c.6372A>G (p.Ser2124=) rs760994682 0.00001
NM_001128178.3(NPHP1):c.102A>G (p.Lys34=) rs763004817 0.00001
NM_001130438.3(SPTAN1):c.3060C>T (p.Tyr1020=) rs530361602 0.00001
NM_001130438.3(SPTAN1):c.3720-7C>T rs773023641 0.00001
NM_001130438.3(SPTAN1):c.5245G>A (p.Gly1749Arg) rs771886198 0.00001
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) rs758180890 0.00001
NM_001130987.2(DYSF):c.1276+5G>A rs766433603 0.00001
NM_001130987.2(DYSF):c.1577-10T>C rs371967475 0.00001
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg) rs121908962 0.00001
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092 0.00001
NM_001130987.2(DYSF):c.2217-2A>G rs747289205 0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) rs150877497 0.00001
NM_001130987.2(DYSF):c.4149G>A (p.Thr1383=) rs566381009 0.00001
NM_001130987.2(DYSF):c.4188C>T (p.Pro1396=) rs774464702 0.00001
NM_001130987.2(DYSF):c.4261G>A (p.Val1421Ile) rs767049254 0.00001
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter) rs886044411 0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052 0.00001
NM_001130987.2(DYSF):c.5427C>G (p.Leu1809=) rs763198861 0.00001
NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=) rs577921112 0.00001
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn) rs398123794 0.00001
NM_001130987.2(DYSF):c.606G>A (p.Ala202=) rs398123791 0.00001
NM_001130987.2(DYSF):c.6174-8G>A rs777167646 0.00001
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met) rs398123802 0.00001
NM_001134363.3(RBM20):c.2514T>C (p.Ala838=) rs794727966 0.00001
NM_001134407.3(GRIN2A):c.1069G>A (p.Val357Met) rs78929970 0.00001
NM_001134407.3(GRIN2A):c.678C>T (p.Val226=) rs1567187672 0.00001
NM_001142800.2(EYS):c.5487A>G (p.Lys1829=) rs373872866 0.00001
NM_001142800.2(EYS):c.5644+5G>A rs794727412 0.00001
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser) rs869025431 0.00001
NM_001159699.2(FHL1):c.88T>C (p.Leu30=) rs1313810606 0.00001
NM_001159773.2(CANT1):c.836-9G>A rs538543007 0.00001
NM_001161352.2(KCNMA1):c.1305C>T (p.Asp435=) rs201999021 0.00001
NM_001164277.2(SLC37A4):c.786-7A>G rs781887799 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_001164508.2(NEB):c.25141_25142del (p.Met8381fs) rs1472403020 0.00001
NM_001164508.2(NEB):c.294+2T>C rs773952935 0.00001
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His) rs398123588 0.00001
NM_001165963.4(SCN1A):c.3120G>T (p.Arg1040Ser) rs1373733895 0.00001
NM_001165963.4(SCN1A):c.3176A>T (p.Asp1059Val) rs779306054 0.00001
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser) rs398123591 0.00001
NM_001165963.4(SCN1A):c.5532A>G (p.Pro1844=) rs886043063 0.00001
NM_001165963.4(SCN1A):c.90A>G (p.Ala30=) rs750748658 0.00001
NM_001170629.2(CHD8):c.5141T>C (p.Met1714Thr) rs369748510 0.00001
NM_001173467.3(SP7):c.63G>A (p.Thr21=) rs542641721 0.00001
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys) rs779526456 0.00001
NM_001177316.2(SLC34A3):c.945C>T (p.Gly315=) rs915920618 0.00001
NM_001182.5(ALDH7A1):c.1176T>C (p.Gly392=) rs935431600 0.00001
NM_001184880.2(PCDH19):c.1434C>T (p.Arg478=) rs137962077 0.00001
NM_001184880.2(PCDH19):c.228C>T (p.Pro76=) rs794726898 0.00001
NM_001184880.2(PCDH19):c.2496C>T (p.Phe832=) rs774555485 0.00001
NM_001184880.2(PCDH19):c.3057G>A (p.Gly1019=) rs886043091 0.00001
NM_001189.4(NKX3-2):c.873A>G (p.Arg291=) rs921673580 0.00001
NM_001191061.2(SLC25A22):c.379C>T (p.Leu127=) rs746201051 0.00001
NM_001193315.2(VIPAS39):c.1221C>T (p.Phe407=) rs886044709 0.00001
NM_001193315.2(VIPAS39):c.1266+5T>C rs762123926 0.00001
NM_001193315.2(VIPAS39):c.1356+8C>T rs988006454 0.00001
NM_001193315.2(VIPAS39):c.958C>T (p.Arg320Ter) rs747749610 0.00001
NM_001199107.2(TBC1D24):c.972A>C (p.Ser324=) rs886043654 0.00001
NM_001206979.2(NR1H4):c.1353C>T (p.His451=) rs574925287 0.00001
NM_001252024.2(TRPM1):c.435C>A (p.Gly145=) rs774819442 0.00001
NM_001267550.2(TTN):c.100167A>G (p.Pro33389=) rs778478048 0.00001
NM_001267550.2(TTN):c.100629T>C (p.Tyr33543=) rs772935423 0.00001
NM_001267550.2(TTN):c.102025T>C (p.Leu34009=) rs794727543 0.00001
NM_001267550.2(TTN):c.102562G>A (p.Glu34188Lys) rs577667352 0.00001
NM_001267550.2(TTN):c.102963C>T (p.Asn34321=) rs528502993 0.00001
NM_001267550.2(TTN):c.10303+2T>C rs371596417 0.00001
NM_001267550.2(TTN):c.103207C>T (p.Leu34403=) rs773892755 0.00001
NM_001267550.2(TTN):c.103787G>A (p.Arg34596His) rs762235688 0.00001
NM_001267550.2(TTN):c.104347C>T (p.Leu34783Phe) rs539735520 0.00001
NM_001267550.2(TTN):c.104399del (p.Arg34800fs) rs747662439 0.00001
NM_001267550.2(TTN):c.104413C>T (p.Arg34805Ter) rs750519430 0.00001
NM_001267550.2(TTN):c.104457C>T (p.Tyr34819=) rs548677252 0.00001
NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter) rs886043924 0.00001
NM_001267550.2(TTN):c.105805del (p.Thr35269fs) rs752787097 0.00001
NM_001267550.2(TTN):c.105852C>G (p.Ala35284=) rs776786546 0.00001
NM_001267550.2(TTN):c.105999G>A (p.Gln35333=) rs764231632 0.00001
NM_001267550.2(TTN):c.107200G>A (p.Glu35734Lys) rs374992991 0.00001
NM_001267550.2(TTN):c.107254C>T (p.Arg35752Cys) rs528535076 0.00001
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154 0.00001
NM_001267550.2(TTN):c.107832G>A (p.Arg35944=) rs759154562 0.00001
NM_001267550.2(TTN):c.11506G>A (p.Val3836Met) rs397517825 0.00001
NM_001267550.2(TTN):c.12387G>A (p.Arg4129=) rs199546417 0.00001
NM_001267550.2(TTN):c.13365A>G (p.Val4455=) rs956041710 0.00001
NM_001267550.2(TTN):c.13872C>T (p.His4624=) rs765700138 0.00001
NM_001267550.2(TTN):c.14093-1G>A rs869312099 0.00001
NM_001267550.2(TTN):c.1452T>C (p.Asp484=) rs746610206 0.00001
NM_001267550.2(TTN):c.16078A>G (p.Thr5360Ala) rs749081117 0.00001
NM_001267550.2(TTN):c.16159A>C (p.Arg5387=) rs371501460 0.00001
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) rs772235481 0.00001
NM_001267550.2(TTN):c.17082G>T (p.Leu5694=) rs750996600 0.00001
NM_001267550.2(TTN):c.17227C>T (p.Arg5743Trp) rs377193479 0.00001
NM_001267550.2(TTN):c.17280G>A (p.Thr5760=) rs748617936 0.00001
NM_001267550.2(TTN):c.17928G>A (p.Leu5976=) rs373963067 0.00001
NM_001267550.2(TTN):c.18669G>A (p.Thr6223=) rs772600691 0.00001
NM_001267550.2(TTN):c.210G>T (p.Val70=) rs746033038 0.00001
NM_001267550.2(TTN):c.23091A>G (p.Thr7697=) rs1198504900 0.00001
NM_001267550.2(TTN):c.23178G>A (p.Ser7726=) rs753546095 0.00001
NM_001267550.2(TTN):c.23352G>A (p.Thr7784=) rs745476881 0.00001
NM_001267550.2(TTN):c.2535G>T (p.Glu845Asp) rs768608500 0.00001
NM_001267550.2(TTN):c.2629C>A (p.Pro877Thr) rs751640052 0.00001
NM_001267550.2(TTN):c.2649C>T (p.Phe883=) rs775588479 0.00001
NM_001267550.2(TTN):c.267G>A (p.Ala89=) rs577716745 0.00001
NM_001267550.2(TTN):c.27198C>G (p.Asn9066Lys) rs369529493 0.00001
NM_001267550.2(TTN):c.27328+5G>A rs397517521 0.00001
NM_001267550.2(TTN):c.27677G>A (p.Cys9226Tyr) rs369108107 0.00001
NM_001267550.2(TTN):c.27914G>A (p.Arg9305Gln) rs397517527 0.00001
NM_001267550.2(TTN):c.2916G>A (p.Pro972=) rs757569345 0.00001
NM_001267550.2(TTN):c.3011A>C (p.Glu1004Ala) rs1413214135 0.00001
NM_001267550.2(TTN):c.30224-7T>G rs778458915 0.00001
NM_001267550.2(TTN):c.31321G>A (p.Glu10441Lys) rs901197333 0.00001
NM_001267550.2(TTN):c.31846+5A>G rs760788961 0.00001
NM_001267550.2(TTN):c.32470+4T>C rs1390842582 0.00001
NM_001267550.2(TTN):c.33248-8C>G rs766957102 0.00001
NM_001267550.2(TTN):c.34734A>G (p.Val11578=) rs866407525 0.00001
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter) rs878854299 0.00001
NM_001267550.2(TTN):c.39473T>C (p.Val13158Ala) rs1553769611 0.00001
NM_001267550.2(TTN):c.40408+7_40408+10dup rs397517560 0.00001
NM_001267550.2(TTN):c.40558G>A (p.Val13520Ile) rs587780488 0.00001
NM_001267550.2(TTN):c.40800C>A (p.Ile13600=) rs879111430 0.00001
NM_001267550.2(TTN):c.41778T>C (p.Asp13926=) rs766397292 0.00001
NM_001267550.2(TTN):c.42613T>C (p.Leu14205=) rs747480084 0.00001
NM_001267550.2(TTN):c.43565A>G (p.His14522Arg) rs374085402 0.00001
NM_001267550.2(TTN):c.43623G>A (p.Ser14541=) rs369434563 0.00001
NM_001267550.2(TTN):c.43716G>T (p.Gly14572=) rs200065187 0.00001
NM_001267550.2(TTN):c.43748-7C>T rs771927358 0.00001
NM_001267550.2(TTN):c.43836A>G (p.Ala14612=) rs755492644 0.00001
NM_001267550.2(TTN):c.44112C>T (p.His14704=) rs754693395 0.00001
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00001
NM_001267550.2(TTN):c.44599G>A (p.Gly14867Arg) rs144848584 0.00001
NM_001267550.2(TTN):c.44816-1G>A rs749705939 0.00001
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter) rs727505350 0.00001
NM_001267550.2(TTN):c.4641G>T (p.Val1547=) rs1012929202 0.00001
NM_001267550.2(TTN):c.46899G>A (p.Gly15633=) rs727504195 0.00001
NM_001267550.2(TTN):c.47258G>A (p.Arg15753Lys) rs577133803 0.00001
NM_001267550.2(TTN):c.48960T>C (p.Asp16320=) rs1057523898 0.00001
NM_001267550.2(TTN):c.5022C>G (p.Ala1674=) rs753444772 0.00001
NM_001267550.2(TTN):c.50363T>C (p.Ile16788Thr) rs397517599 0.00001
NM_001267550.2(TTN):c.50835T>C (p.Asn16945=) rs750172128 0.00001
NM_001267550.2(TTN):c.51099C>T (p.Leu17033=) rs755994820 0.00001
NM_001267550.2(TTN):c.51231C>A (p.Thr17077=) rs779518431 0.00001
NM_001267550.2(TTN):c.51961C>T (p.Arg17321Cys) rs752764827 0.00001
NM_001267550.2(TTN):c.52144A>G (p.Arg17382Gly) rs397517607 0.00001
NM_001267550.2(TTN):c.52323C>T (p.Tyr17441=) rs749855424 0.00001
NM_001267550.2(TTN):c.52374T>C (p.Val17458=) rs752571545 0.00001
NM_001267550.2(TTN):c.52553G>A (p.Arg17518His) rs559590585 0.00001
NM_001267550.2(TTN):c.52920C>T (p.Tyr17640=) rs1553687219 0.00001
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu) rs397517612 0.00001
NM_001267550.2(TTN):c.53625A>G (p.Thr17875=) rs373277508 0.00001
NM_001267550.2(TTN):c.55290C>T (p.Pro18430=) rs777904054 0.00001
NM_001267550.2(TTN):c.55503G>A (p.Lys18501=) rs879239475 0.00001
NM_001267550.2(TTN):c.55986C>T (p.Val18662=) rs747136342 0.00001
NM_001267550.2(TTN):c.56256G>A (p.Pro18752=) rs111262307 0.00001
NM_001267550.2(TTN):c.57243T>A (p.Ile19081=) rs1185555417 0.00001
NM_001267550.2(TTN):c.57273C>T (p.Asp19091=) rs587780489 0.00001
NM_001267550.2(TTN):c.58191G>A (p.Thr19397=) rs370091658 0.00001
NM_001267550.2(TTN):c.58653T>C (p.Ile19551=) rs727504980 0.00001
NM_001267550.2(TTN):c.59502T>C (p.Asp19834=) rs972823319 0.00001
NM_001267550.2(TTN):c.60342C>T (p.Thr20114=) rs529529087 0.00001
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter) rs797044692 0.00001
NM_001267550.2(TTN):c.61224G>A (p.Val20408=) rs566188777 0.00001
NM_001267550.2(TTN):c.61962C>T (p.Ile20654=) rs369710636 0.00001
NM_001267550.2(TTN):c.6243C>T (p.Phe2081=) rs770052197 0.00001
NM_001267550.2(TTN):c.6406T>C (p.Leu2136=) rs765377738 0.00001
NM_001267550.2(TTN):c.6423G>A (p.Val2141=) rs768989325 0.00001
NM_001267550.2(TTN):c.64785T>C (p.Tyr21595=) rs751009684 0.00001
NM_001267550.2(TTN):c.65514C>T (p.Thr21838=) rs372543748 0.00001
NM_001267550.2(TTN):c.65629G>T (p.Ala21877Ser) rs72646866 0.00001
NM_001267550.2(TTN):c.66160+2T>C rs753146898 0.00001
NM_001267550.2(TTN):c.66423C>T (p.Pro22141=) rs1322620894 0.00001
NM_001267550.2(TTN):c.6690C>T (p.Phe2230=) rs755122338 0.00001
NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu) rs727505352 0.00001
NM_001267550.2(TTN):c.68824+5G>C rs749639627 0.00001
NM_001267550.2(TTN):c.68885_68888dup (p.Ile22964fs) rs757603460 0.00001
NM_001267550.2(TTN):c.68997C>A (p.Thr22999=) rs369068922 0.00001
NM_001267550.2(TTN):c.69639T>C (p.Arg23213=) rs1487392148 0.00001
NM_001267550.2(TTN):c.69957C>G (p.Ile23319Met) rs540840413 0.00001
NM_001267550.2(TTN):c.70819G>A (p.Ala23607Thr) rs786205539 0.00001
NM_001267550.2(TTN):c.7173C>T (p.Asp2391=) rs374509926 0.00001
NM_001267550.2(TTN):c.71881G>A (p.Val23961Ile) rs397517690 0.00001
NM_001267550.2(TTN):c.72105T>C (p.Phe24035=) rs397517691 0.00001
NM_001267550.2(TTN):c.72167G>A (p.Arg24056His) rs398124455 0.00001
NM_001267550.2(TTN):c.72630A>G (p.Glu24210=) rs1384344292 0.00001
NM_001267550.2(TTN):c.73224G>A (p.Gly24408=) rs371034493 0.00001
NM_001267550.2(TTN):c.74144C>T (p.Pro24715Leu) rs55713856 0.00001
NM_001267550.2(TTN):c.74331C>T (p.Asp24777=) rs368530092 0.00001
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp) rs373527654 0.00001
NM_001267550.2(TTN):c.74763C>T (p.Ser24921=) rs371563258 0.00001
NM_001267550.2(TTN):c.76124A>T (p.Tyr25375Phe) rs374494927 0.00001
NM_001267550.2(TTN):c.77037T>C (p.Asn25679=) rs372800320 0.00001
NM_001267550.2(TTN):c.77166T>C (p.Pro25722=) rs757252494 0.00001
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter) rs794729289 0.00001
NM_001267550.2(TTN):c.78372T>C (p.Ile26124=) rs886044461 0.00001
NM_001267550.2(TTN):c.7902C>T (p.Ser2634=) rs1553997365 0.00001
NM_001267550.2(TTN):c.795C>T (p.Ser265=) rs780802517 0.00001
NM_001267550.2(TTN):c.8013C>A (p.Gly2671=) rs369439944 0.00001
NM_001267550.2(TTN):c.80841T>C (p.Phe26947=) rs1015506783 0.00001
NM_001267550.2(TTN):c.82539C>T (p.Gly27513=) rs775673876 0.00001
NM_001267550.2(TTN):c.82732A>G (p.Lys27578Glu) rs368850871 0.00001
NM_001267550.2(TTN):c.83017C>A (p.Pro27673Thr) rs769343491 0.00001
NM_001267550.2(TTN):c.84157C>T (p.Leu28053Phe) rs1194981313 0.00001
NM_001267550.2(TTN):c.84696A>C (p.Glu28232Asp) rs397517730 0.00001
NM_001267550.2(TTN):c.85746A>C (p.Ile28582=) rs771116739 0.00001
NM_001267550.2(TTN):c.85953A>G (p.Leu28651=) rs546573613 0.00001
NM_001267550.2(TTN):c.86085C>T (p.Asp28695=) rs773001228 0.00001
NM_001267550.2(TTN):c.86140G>A (p.Gly28714Arg) rs532818379 0.00001
NM_001267550.2(TTN):c.87081A>G (p.Arg29027=) rs886042694 0.00001
NM_001267550.2(TTN):c.87345T>C (p.Tyr29115=) rs369444690 0.00001
NM_001267550.2(TTN):c.88983C>T (p.Gly29661=) rs371678936 0.00001
NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met) rs369855092 0.00001
NM_001267550.2(TTN):c.9108T>C (p.Ala3036=) rs886044544 0.00001
NM_001267550.2(TTN):c.91224C>T (p.Ser30408=) rs1057522835 0.00001
NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val) rs553668520 0.00001
NM_001267550.2(TTN):c.9176A>T (p.Glu3059Val) rs727504501 0.00001
NM_001267550.2(TTN):c.918C>T (p.Ser306=) rs773898647 0.00001
NM_001267550.2(TTN):c.92058C>T (p.Asn30686=) rs545632095 0.00001
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter) rs794729301 0.00001
NM_001267550.2(TTN):c.92951A>G (p.Glu30984Gly) rs770525487 0.00001
NM_001267550.2(TTN):c.93972A>G (p.Glu31324=) rs727504528 0.00001
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter) rs146572907 0.00001
NM_001267550.2(TTN):c.94590A>G (p.Pro31530=) rs558347312 0.00001
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568 0.00001
NM_001267550.2(TTN):c.95232C>T (p.Ile31744=) rs267599026 0.00001
NM_001267550.2(TTN):c.95686G>A (p.Glu31896Lys) rs745365163 0.00001
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs) rs794729365 0.00001
NM_001267550.2(TTN):c.97294C>T (p.Leu32432=) rs72648267 0.00001
NM_001267550.2(TTN):c.97418G>A (p.Arg32473His) rs397517770 0.00001
NM_001267550.2(TTN):c.97673G>A (p.Arg32558Gln) rs369237346 0.00001
NM_001267550.2(TTN):c.97742G>T (p.Gly32581Val) rs397517771 0.00001
NM_001267550.2(TTN):c.97947G>C (p.Lys32649Asn) rs773776767 0.00001
NM_001267550.2(TTN):c.98151G>A (p.Arg32717=) rs757402291 0.00001
NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly) rs191054704 0.00001
NM_001267550.2(TTN):c.98781T>C (p.Ser32927=) rs750855113 0.00001
NM_001267550.2(TTN):c.99990A>G (p.Lys33330=) rs749702063 0.00001
NM_001278116.2(L1CAM):c.1880C>T (p.Thr627Met) rs398123360 0.00001
NM_001278116.2(L1CAM):c.591T>C (p.Asn197=) rs375862497 0.00001
NM_001278116.2(L1CAM):c.860G>A (p.Arg287His) rs200402620 0.00001
NM_001278431.2(C1QTNF5):c.294C>T (p.Cys98=) rs540768941 0.00001
NM_001278431.2(C1QTNF5):c.306G>A (p.Pro102=) rs751346951 0.00001
NM_001289808.2(CRYAB):c.343del (p.Ser115fs) rs281865142 0.00001
NM_001291415.2(KDM6A):c.4208G>A (p.Arg1403Gln) rs370765411 0.00001
NM_001292063.2(OTOG):c.7268-7T>A rs911853347 0.00001
NM_001297.5(CNGB1):c.705C>T (p.Pro235=) rs748140894 0.00001
NM_001298.3(CNGA3):c.1831C>T (p.Leu611=) rs747855074 0.00001
NM_001305581.2(LRMDA):c.602-8A>T rs565236615 0.00001
NM_001323289.2(CDKL5):c.2152+10C>G rs763466606 0.00001
NM_001323289.2(CDKL5):c.2388C>T (p.Ser796=) rs727503847 0.00001
NM_001330078.2(NRXN1):c.1326A>C (p.Val442=) rs201485014 0.00001
NM_001330078.2(NRXN1):c.3042C>T (p.Thr1014=) rs75137449 0.00001
NM_001330078.2(NRXN1):c.3071-10C>T rs398123573 0.00001
NM_001330078.2(NRXN1):c.3245-4G>T rs1057520338 0.00001
NM_001330078.2(NRXN1):c.3364+3A>G rs762891600 0.00001
NM_001330260.2(SCN8A):c.270G>T (p.Thr90=) rs371712630 0.00001
NM_001330260.2(SCN8A):c.2733C>T (p.Asp911=) rs763201344 0.00001
NM_001330260.2(SCN8A):c.929-4C>G rs771227940 0.00001
NM_001349338.3(FOXP1):c.1328A>G (p.Tyr443Cys) rs727503936 0.00001
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860 0.00001
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro) rs753960624 0.00001
NM_001360.3(DHCR7):c.831+7G>A rs1318919210 0.00001
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) rs78365220 0.00001
NM_001367624.2(ZNF469):c.2017G>A (p.Ala673Thr) rs770623245 0.00001
NM_001367721.1(CASK):c.1390A>G (p.Thr464Ala) rs886042221 0.00001
NM_001367721.1(CASK):c.1503+3A>G rs1468715588 0.00001
NM_001367721.1(CASK):c.159G>T (p.Gly53=) rs761946846 0.00001
NM_001367721.1(CASK):c.2317C>T (p.His773Tyr) rs398123811 0.00001
NM_001369268.1(ACAN):c.1156C>T (p.Arg386Ter) rs773948197 0.00001
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp) rs397514370 0.00001
NM_001370658.1(BTD):c.572G>A (p.Arg191His) rs112195009 0.00001
NM_001371596.2(MFSD8):c.15G>A (p.Arg5=) rs762559863 0.00001
NM_001374353.1(GLI2):c.2208G>A (p.Thr736=) rs372206751 0.00001
NM_001374353.1(GLI2):c.2657C>G (p.Thr886Ser) rs572826436 0.00001
NM_001374353.1(GLI2):c.765G>A (p.Ser255=) rs200901345 0.00001
NM_001374385.1(ATP8B1):c.1799G>A (p.Arg600Gln) rs1202682161 0.00001
NM_001374385.1(ATP8B1):c.1812T>C (p.Ser604=) rs754573787 0.00001
NM_001374385.1(ATP8B1):c.2097+2T>C rs387906381 0.00001
NM_001374385.1(ATP8B1):c.2209+9T>C rs377124910 0.00001
NM_001374385.1(ATP8B1):c.2932-9C>T rs776616431 0.00001
NM_001374385.1(ATP8B1):c.549T>C (p.Asp183=) rs201160977 0.00001
NM_001378120.1(MBD5):c.4731C>T (p.Ser1577=) rs777735514 0.00001
NM_001378414.1(HDAC4):c.339+10G>A rs199918439 0.00001
NM_001378454.1(ALMS1):c.6827G>A (p.Arg2276Gln) rs200979896 0.00001
NM_001378615.1(CC2D2A):c.1836C>T (p.Pro612=) rs763567590 0.00001
NM_001378615.1(CC2D2A):c.541-5G>A rs369022150 0.00001
NM_001379110.1(SLC9A6):c.1380C>T (p.Ser460=) rs782177396 0.00001
NM_001379270.1(CNGA1):c.1560C>T (p.Leu520=) rs775781523 0.00001
NM_001379270.1(CNGA1):c.438-6C>T rs794727950 0.00001
NM_001384474.1(LOXHD1):c.4989G>A (p.Trp1663Ter) rs1223508098 0.00001
NM_001384474.1(LOXHD1):c.6516C>T (p.Ala2172=) rs886042223 0.00001
NM_001429.4(EP300):c.1453C>A (p.Gln485Lys) rs772407988 0.00001
NM_001457.4(FLNB):c.3144C>T (p.Pro1048=) rs376519914 0.00001
NM_001457.4(FLNB):c.5043G>A (p.Pro1681=) rs886042162 0.00001
NM_001458.5(FLNC):c.3054C>T (p.Gly1018=) rs769624093 0.00001
NM_001458.5(FLNC):c.3506A>G (p.Lys1169Arg) rs530742766 0.00001
NM_001458.5(FLNC):c.6441C>T (p.Ile2147=) rs762017885 0.00001
NM_001814.6(CTSC):c.857A>G (p.Gln286Arg) rs104894208 0.00001
NM_001844.5(COL2A1):c.1962C>T (p.Gly654=) rs794727533 0.00001
NM_001844.5(COL2A1):c.2286G>A (p.Gly762=) rs371835359 0.00001
NM_001844.5(COL2A1):c.2943C>T (p.Gly981=) rs566132150 0.00001
NM_001844.5(COL2A1):c.4326C>T (p.Thr1442=) rs201223454 0.00001
NM_001848.3(COL6A1):c.1782C>T (p.Cys594=) rs745847824 0.00001
NM_001848.3(COL6A1):c.2643G>A (p.Thr881=) rs372725624 0.00001
NM_001848.3(COL6A1):c.2670G>A (p.Ser890=) rs527265374 0.00001
NM_001849.4(COL6A2):c.1162G>A (p.Gly388Arg) rs727503883 0.00001
NM_001849.4(COL6A2):c.1396-1G>A rs1331260332 0.00001
NM_001849.4(COL6A2):c.1591G>A (p.Gly531Ser) rs778364096 0.00001
NM_001849.4(COL6A2):c.2031C>T (p.Asp677=) rs759646708 0.00001
NM_001849.4(COL6A2):c.2241G>A (p.Leu747=) rs398123649 0.00001
NM_001849.4(COL6A2):c.2397T>C (p.Asp799=) rs754203636 0.00001
NM_001849.4(COL6A2):c.459C>T (p.Thr153=) rs764014106 0.00001
NM_001851.6(COL9A1):c.1411C>T (p.Arg471Ter) rs745532481 0.00001
NM_001851.6(COL9A1):c.2562T>C (p.Pro854=) rs1135057 0.00001
NM_001851.6(COL9A1):c.88+7G>C rs755501266 0.00001
NM_001852.4(COL9A2):c.846+10C>T rs1045951380 0.00001
NM_001853.4(COL9A3):c.1263C>T (p.Gly421=) rs776017580 0.00001
NM_001853.4(COL9A3):c.1881C>T (p.Pro627=) rs372602506 0.00001
NM_001853.4(COL9A3):c.72G>A (p.Gly24=) rs777240987 0.00001
NM_001854.4(COL11A1):c.1359G>A (p.Met453Ile) rs755173952 0.00001
NM_001854.4(COL11A1):c.1414-9T>A rs794727062 0.00001
NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser) rs56230601 0.00001
NM_001854.4(COL11A1):c.2610+9T>C rs754222130 0.00001
NM_001854.4(COL11A1):c.2725G>A (p.Asp909Asn) rs779028602 0.00001
NM_001854.4(COL11A1):c.3650C>T (p.Pro1217Leu) rs753649097 0.00001
NM_001854.4(COL11A1):c.4859-3T>C rs774985706 0.00001
NM_001854.4(COL11A1):c.893C>T (p.Thr298Met) rs398123652 0.00001
NM_001909.5(CTSD):c.972+10G>A rs531682785 0.00001
NM_001927.4(DES):c.-7C>G rs764966574 0.00001
NM_001927.4(DES):c.1180G>A (p.Val394Met) rs776786349 0.00001
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) rs150974575 0.00001
NM_001927.4(DES):c.218G>A (p.Arg73Gln) rs752518966 0.00001
NM_001927.4(DES):c.822C>T (p.Leu274=) rs763599850 0.00001
NM_001931.5(DLAT):c.423G>A (p.Glu141=) rs781936816 0.00001
NM_001966.4(EHHADH):c.1693C>T (p.Leu565Phe) rs771154497 0.00001
NM_001966.4(EHHADH):c.2078A>G (p.Glu693Gly) rs747498106 0.00001
NM_001999.4(FBN2):c.2013G>A (p.Gly671=) rs778762668 0.00001
NM_002024.6(FMR1):c.1654+10T>A rs782472011 0.00001
NM_002225.5(IVD):c.1132T>C (p.Cys378Arg) rs398123680 0.00001
NM_002335.4(LRP5):c.2463C>T (p.Thr821=) rs778180589 0.00001
NM_002335.4(LRP5):c.4359C>T (p.Cys1453=) rs755205426 0.00001
NM_002335.4(LRP5):c.480C>T (p.Pro160=) rs377114189 0.00001
NM_002397.5(MEF2C):c.585C>T (p.Asn195=) rs398123686 0.00001
NM_002427.4(MMP13):c.1251G>A (p.Pro417=) rs150203792 0.00001
NM_002437.5(MPV17):c.409-1G>C rs886044280 0.00001
NM_002437.5(MPV17):c.70+8T>G rs755647054 0.00001
NM_002471.4(MYH6):c.3393G>A (p.Arg1131=) rs529107714 0.00001
NM_002473.6(MYH9):c.5151-5C>T rs762613036 0.00001
NM_002547.3(OPHN1):c.2307G>A (p.Gly769=) rs748176965 0.00001
NM_002615.7(SERPINF1):c.510G>A (p.Thr170=) rs765928741 0.00001
NM_002617.4(PEX10):c.194-5C>T rs375032738 0.00001
NM_002617.4(PEX10):c.913-3C>T rs777570617 0.00001
NM_002633.3(PGM1):c.1264C>T (p.Arg422Trp) rs748019294 0.00001
NM_002693.3(POLG):c.114G>T (p.Gly38=) rs794727268 0.00001
NM_002693.3(POLG):c.116A>G (p.Gln39Arg) rs749750052 0.00001
NM_002693.3(POLG):c.1898A>C (p.Lys633Thr) rs568913937 0.00001
NM_002693.3(POLG):c.2870C>T (p.Ala957Val) rs753160398 0.00001
NM_002693.3(POLG):c.3258G>A (p.Ser1086=) rs763312940 0.00001
NM_002693.3(POLG):c.330C>T (p.His110=) rs376266682 0.00001
NM_002693.3(POLG):c.581C>T (p.Ala194Val) rs779122022 0.00001
NM_002693.3(POLG):c.603C>T (p.Val201=) rs768005050 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546 0.00001
NM_002834.5(PTPN11):c.175A>G (p.Thr59Ala) rs886043790 0.00001
NM_002968.3(SALL1):c.2590G>A (p.Ala864Thr) rs199626036 0.00001
NM_002968.3(SALL1):c.2825C>A (p.Pro942His) rs751069468 0.00001
NM_002979.5(SCP2):c.1347A>G (p.Glu449=) rs376582235 0.00001
NM_002979.5(SCP2):c.648T>C (p.Phe216=) rs774694600 0.00001
NM_003001.5(SDHC):c.420A>G (p.Gly140=) rs794727791 0.00001
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys) rs72552734 0.00001
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys) rs121908888 0.00001
NM_003073.5(SMARCB1):c.362+8G>A rs727504162 0.00001
NM_003119.4(SPG7):c.1A>G (p.Met1Val) rs794726906 0.00001
NM_003119.4(SPG7):c.376+1G>T rs746053679 0.00001
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218 0.00001
NM_003482.4(KMT2D):c.11304T>C (p.Ala3768=) rs771212750 0.00001
NM_003482.4(KMT2D):c.16299C>T (p.Asn5433=) rs975080118 0.00001
NM_003482.4(KMT2D):c.6434C>T (p.Pro2145Leu) rs574231443 0.00001
NM_003482.4(KMT2D):c.6435G>A (p.Pro2145=) rs374077422 0.00001
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817 0.00001
NM_003482.4(KMT2D):c.8288C>T (p.Pro2763Leu) rs398123762 0.00001
NM_003630.3(PEX3):c.288-1G>A rs752904598 0.00001
NM_003630.3(PEX3):c.389G>A (p.Arg130Gln) rs758701470 0.00001
NM_003630.3(PEX3):c.513A>G (p.Leu171=) rs769938240 0.00001
NM_003630.3(PEX3):c.748-4A>G rs1024883914 0.00001
NM_003640.5(ELP1):c.1461-2A>G rs866046915 0.00001
NM_003659.4(AGPS):c.549A>G (p.Val183=) rs774279058 0.00001
NM_003659.4(AGPS):c.891T>C (p.Cys297=) rs755884284 0.00001
NM_003673.4(TCAP):c.225C>T (p.Gly75=) rs754744780 0.00001
NM_003673.4(TCAP):c.334C>T (p.Gln112Ter) rs794729175 0.00001
NM_003673.4(TCAP):c.66G>A (p.Trp22Ter) rs141019458 0.00001
NM_003742.4(ABCB11):c.1550G>A (p.Arg517His) rs760750012 0.00001
NM_003742.4(ABCB11):c.216T>C (p.His72=) rs1174260635 0.00001
NM_003742.4(ABCB11):c.22C>T (p.Arg8Ter) rs886043986 0.00001
NM_003742.4(ABCB11):c.2457C>A (p.Ala819=) rs1398103963 0.00001
NM_003742.4(ABCB11):c.2490G>A (p.Arg830=) rs775663263 0.00001
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys) rs772294884 0.00001
NM_003742.4(ABCB11):c.2628C>T (p.Ile876=) rs200127070 0.00001
NM_003742.4(ABCB11):c.2655C>T (p.Asn885=) rs756738723 0.00001
NM_003742.4(ABCB11):c.280G>A (p.Asp94Asn) rs760920706 0.00001
NM_003742.4(ABCB11):c.2988T>C (p.Asn996=) rs762824612 0.00001
NM_003742.4(ABCB11):c.3383G>A (p.Arg1128His) rs756220860 0.00001
NM_003742.4(ABCB11):c.3766-10C>T rs369104228 0.00001
NM_003742.4(ABCB11):c.3768G>A (p.Thr1256=) rs773371540 0.00001
NM_003816.3(ADAM9):c.2160G>A (p.Arg720=) rs536279890 0.00001
NM_003835.4(RGS9):c.1645C>T (p.Arg549Cys) rs574696410 0.00001
NM_003835.4(RGS9):c.1662C>T (p.Thr554=) rs200492363 0.00001
NM_003846.3(PEX11B):c.192A>G (p.Ser64=) rs781844151 0.00001
NM_003846.3(PEX11B):c.375-7G>A rs1049689144 0.00001
NM_003865.3(HESX1):c.509C>T (p.Ser170Leu) rs28936703 0.00001
NM_003977.4(AIP):c.345G>C (p.Leu115=) rs996404334 0.00001
NM_003995.4(NPR2):c.2327G>A (p.Arg776Gln) rs780293535 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_004004.6(GJB2):c.584T>C (p.Met195Thr) rs1378679640 0.00001
NM_004006.3(DMD):c.1058C>T (p.Ser353Leu) rs374713915 0.00001
NM_004006.3(DMD):c.1150-4T>A rs794727031 0.00001
NM_004006.3(DMD):c.1582G>A (p.Ala528Thr) rs201067368 0.00001
NM_004006.3(DMD):c.243G>A (p.Leu81=) rs748842563 0.00001
NM_004006.3(DMD):c.2617T>C (p.Cys873Arg) rs200872948 0.00001
NM_004006.3(DMD):c.2937C>T (p.Leu979=) rs774450833 0.00001
NM_004006.3(DMD):c.3688C>T (p.Pro1230Ser) rs886042862 0.00001
NM_004006.3(DMD):c.4561A>G (p.Met1521Val) rs757350813 0.00001
NM_004006.3(DMD):c.4773T>C (p.Asp1591=) rs886044358 0.00001
NM_004006.3(DMD):c.4775T>C (p.Met1592Thr) rs398123966 0.00001
NM_004006.3(DMD):c.4995C>T (p.Ser1665=) rs775659020 0.00001
NM_004006.3(DMD):c.5658T>C (p.Ala1886=) rs398123994 0.00001
NM_004006.3(DMD):c.6140A>G (p.Gln2047Arg) rs773782786 0.00001
NM_004006.3(DMD):c.6896A>C (p.Asn2299Thr) rs747055774 0.00001
NM_004006.3(DMD):c.6973C>A (p.Gln2325Lys) rs781054741 0.00001
NM_004006.3(DMD):c.7016A>G (p.His2339Arg) rs398124041 0.00001
NM_004006.3(DMD):c.7956T>C (p.Ser2652=) rs757902182 0.00001
NM_004006.3(DMD):c.8083C>T (p.Pro2695Ser) rs755445214 0.00001
NM_004006.3(DMD):c.8508C>T (p.Gly2836=) rs374374549 0.00001
NM_004006.3(DMD):c.8705G>A (p.Arg2902Gln) rs754308757 0.00001
NM_004006.3(DMD):c.8847G>A (p.Lys2949=) rs185664502 0.00001
NM_004006.3(DMD):c.8913C>T (p.Leu2971=) rs780354925 0.00001
NM_004006.3(DMD):c.9051G>A (p.Leu3017=) rs772255929 0.00001
NM_004086.3(COCH):c.239+5G>A rs563163157 0.00001
NM_004086.3(COCH):c.482-4G>A rs773935807 0.00001
NM_004260.4(RECQL4):c.2585C>T (p.Ser862Leu) rs781636798 0.00001
NM_004281.4(BAG3):c.465A>G (p.Ala155=) rs775151738 0.00001
NM_004333.6(BRAF):c.1305G>A (p.Arg435=) rs763771673 0.00001
NM_004360.5(CDH1):c.1500C>T (p.Gly500=) rs781317341 0.00001
NM_004369.4(COL6A3):c.1080C>T (p.Asp360=) rs762463347 0.00001
NM_004369.4(COL6A3):c.2487C>T (p.Leu829=) rs752530417 0.00001
NM_004369.4(COL6A3):c.2674G>A (p.Glu892Lys) rs760380736 0.00001
NM_004369.4(COL6A3):c.3198C>T (p.Arg1066=) rs200621867 0.00001
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn) rs778403814 0.00001
NM_004369.4(COL6A3):c.6156+5G>A rs112374074 0.00001
NM_004369.4(COL6A3):c.6754-9C>G rs886038542 0.00001
NM_004369.4(COL6A3):c.7029+3A>G rs886044464 0.00001
NM_004369.4(COL6A3):c.7368G>A (p.Thr2456=) rs778474394 0.00001
NM_004369.4(COL6A3):c.8256G>A (p.Leu2752=) rs769124771 0.00001
NM_004369.4(COL6A3):c.8376C>T (p.Asp2792=) rs772967228 0.00001
NM_004380.3(CREBBP):c.1520A>G (p.Gln507Arg) rs766320521 0.00001
NM_004380.3(CREBBP):c.2943A>G (p.Ala981=) rs1053049323 0.00001
NM_004380.3(CREBBP):c.504G>A (p.Thr168=) rs373310969 0.00001
NM_004380.3(CREBBP):c.5517C>T (p.Pro1839=) rs760307939 0.00001
NM_004393.6(DAG1):c.2652C>A (p.Thr884=) rs762428862 0.00001
NM_004393.6(DAG1):c.498G>A (p.Ser166=) rs794727500 0.00001
NM_004407.4(DMP1):c.402G>A (p.Leu134=) rs780110476 0.00001
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser) rs537038850 0.00001
NM_004463.3(FGD1):c.714C>T (p.Pro238=) rs747008412 0.00001
NM_004482.4(GALNT3):c.591G>A (p.Ala197=) rs766232837 0.00001
NM_004484.4(GPC3):c.171G>A (p.Val57=) rs398124166 0.00001
NM_004519.4(KCNQ3):c.604+10G>T rs541587196 0.00001
NM_004525.3(LRP2):c.2599A>G (p.Thr867Ala) rs143822500 0.00001
NM_004560.4(ROR2):c.1054A>G (p.Ser352Gly) rs569242465 0.00001
NM_004560.4(ROR2):c.938-6G>C rs769467387 0.00001
NM_004608.4(TBX6):c.298C>T (p.Leu100=) rs759383268 0.00001
NM_004817.4(TJP2):c.1056+8G>C rs779964139 0.00001
NM_004817.4(TJP2):c.1960T>C (p.Leu654=) rs765975804 0.00001
NM_004817.4(TJP2):c.2239T>C (p.Leu747=) rs886043789 0.00001
NM_004817.4(TJP2):c.3076G>A (p.Glu1026Lys) rs201202451 0.00001
NM_004817.4(TJP2):c.3372G>A (p.Thr1124=) rs745427593 0.00001
NM_004817.4(TJP2):c.3522C>G (p.Ser1174=) rs761272308 0.00001
NM_004817.4(TJP2):c.61-7267A>G rs896087137 0.00001
NM_004817.4(TJP2):c.966G>T (p.Arg322=) rs199857597 0.00001
NM_004820.5(CYP7B1):c.339A>G (p.Val113=) rs770923196 0.00001
NM_004820.5(CYP7B1):c.440G>A (p.Gly147Asp) rs754730601 0.00001
NM_004820.5(CYP7B1):c.999A>G (p.Lys333=) rs746555297 0.00001
NM_004836.7(EIF2AK3):c.2052C>G (p.Leu684=) rs1013032001 0.00001
NM_004836.7(EIF2AK3):c.270G>C (p.Pro90=) rs762693700 0.00001
NM_004839.4(HOMER2):c.33G>A (p.Ala11=) rs201522712 0.00001
NM_004937.3(CTNS):c.612C>T (p.Asn204=) rs200170842 0.00001
NM_005005.3(NDUFB9):c.530G>A (p.Arg177Gln) rs780144498 0.00001
NM_005120.3(MED12):c.3797G>A (p.Arg1266His) rs587780391 0.00001
NM_005188.4(CBL):c.1320C>T (p.Gly440=) rs794727972 0.00001
NM_005199.5(CHRNG):c.806-7T>C rs773463683 0.00001
NM_005247.4(FGF3):c.283C>T (p.Arg95Trp) rs281860303 0.00001
NM_005413.4(SIX3):c.876C>G (p.Gly292=) rs886043297 0.00001
NM_005422.4(TECTA):c.1572C>T (p.Cys524=) rs767426110 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_005476.7(GNE):c.893T>C (p.Ile298Thr) rs757091387 0.00001
NM_005477.3(HCN4):c.1459G>A (p.Val487Met) rs202037304 0.00001
NM_005477.3(HCN4):c.2055C>T (p.Ser685=) rs886042819 0.00001
NM_005477.3(HCN4):c.2523G>A (p.Ser841=) rs768157473 0.00001
NM_005529.7(HSPG2):c.2664C>T (p.Ser888=) rs560919408 0.00001
NM_005529.7(HSPG2):c.3747C>T (p.Cys1249=) rs886042933 0.00001
NM_005529.7(HSPG2):c.8199A>G (p.Ser2733=) rs886044168 0.00001
NM_005633.4(SOS1):c.2728G>C (p.Asp910His) rs369277679 0.00001
NM_005708.5(GPC6):c.930G>A (p.Ser310=) rs754858999 0.00001
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter) rs771865668 0.00001
NM_005989.4(AKR1D1):c.24C>T (p.His8=) rs138462322 0.00001
NM_006005.3(WFS1):c.1416C>A (p.Pro472=) rs530734300 0.00001
NM_006005.3(WFS1):c.2380G>A (p.Glu794Lys) rs201078003 0.00001
NM_006019.4(TCIRG1):c.1583G>C (p.Ser528Thr) rs555362865 0.00001
NM_006019.4(TCIRG1):c.60G>A (p.Ala20=) rs111424326 0.00001
NM_006031.6(PCNT):c.1593G>A (p.Glu531=) rs767430243 0.00001
NM_006059.4(LAMC3):c.4031-10G>A rs555619019 0.00001
NM_006059.4(LAMC3):c.4698C>T (p.Ser1566=) rs754122699 0.00001
NM_006086.4(TUBB3):c.606C>T (p.Ile202=) rs576180572 0.00001
NM_006129.5(BMP1):c.2745C>T (p.Thr915=) rs374251317 0.00001
NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg) rs777367269 0.00001
NM_006208.3(ENPP1):c.1791T>C (p.Asn597=) rs548504035 0.00001
NM_006261.5(PROP1):c.456T>C (p.Ala152=) rs758911793 0.00001
NM_006294.5(UQCRB):c.306_309del (p.Arg105fs) rs886043294 0.00001
NM_006343.3(MERTK):c.1938C>T (p.His646=) rs1309440527 0.00001
NM_006363.6(SEC23B):c.742G>A (p.Glu248Lys) rs398124227 0.00001
NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg) rs534770840 0.00001
NM_006516.4(SLC2A1):c.1446G>C (p.Leu482=) rs794726996 0.00001
NM_006516.4(SLC2A1):c.19-4G>A rs398124229 0.00001
NM_006662.3(SRCAP):c.3484C>T (p.Pro1162Ser) rs753700157 0.00001
NM_006766.5(KAT6A):c.3026C>T (p.Thr1009Met) rs750975358 0.00001
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe) rs121908458 0.00001
NM_006790.3(MYOT):c.630G>A (p.Ser210=) rs375308029 0.00001
NM_006859.4(LIAS):c.983T>A (p.Phe328Tyr) rs1064793165 0.00001
NM_006946.4(SPTBN2):c.4833G>C (p.Met1611Ile) rs1328577241 0.00001
NM_007126.5(VCP):c.476G>A (p.Arg159His) rs121909335 0.00001
NM_007254.4(PNKP):c.762C>T (p.His254=) rs794727920 0.00001
NM_007294.4(BRCA1):c.1866G>A (p.Ala622=) rs1800064 0.00001
NM_007294.4(BRCA1):c.2963C>T (p.Ser988Leu) rs397507206 0.00001
NM_007294.4(BRCA1):c.4047G>A (p.Thr1349=) rs758515222 0.00001
NM_007294.4(BRCA1):c.4097-10G>A rs80358057 0.00001
NM_007294.4(BRCA1):c.4209C>T (p.Asn1403=) rs786201224 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.4986+6T>C rs80358086 0.00001
NM_007373.4(SHOC2):c.183A>G (p.Gln61=) rs371640183 0.00001
NM_012193.4(FZD4):c.729C>T (p.Ile243=) rs560649393 0.00001
NM_012210.4(TRIM32):c.1326T>A (p.Ile442=) rs1372713940 0.00001
NM_012210.4(TRIM32):c.1386G>A (p.Val462=) rs762905941 0.00001
NM_012254.3(SLC27A5):c.1182+7C>T rs376013474 0.00001
NM_012254.3(SLC27A5):c.1498G>T (p.Val500Leu) rs748584848 0.00001
NM_012254.3(SLC27A5):c.169G>A (p.Gly57Ser) rs887693979 0.00001
NM_012418.4(FSCN2):c.1274-6C>T rs1048819854 0.00001
NM_012463.4(ATP6V0A2):c.1514+1G>A rs374480381 0.00001
NM_012470.4(TNPO3):c.1810A>G (p.Ile604Val) rs886043402 0.00001
NM_012470.4(TNPO3):c.189T>C (p.Ala63=) rs755216120 0.00001
NM_013382.7(POMT2):c.651C>T (p.Ala217=) rs147845081 0.00001
NM_014014.5(SNRNP200):c.3354C>T (p.Ile1118=) rs376352502 0.00001
NM_014014.5(SNRNP200):c.5520C>G (p.Thr1840=) rs368225080 0.00001
NM_014053.4(FLVCR1):c.501G>A (p.Leu167=) rs886043715 0.00001
NM_014141.6(CNTNAP2):c.273T>C (p.Asn91=) rs773595457 0.00001
NM_014141.6(CNTNAP2):c.3132G>A (p.Pro1044=) rs761663690 0.00001
NM_014141.6(CNTNAP2):c.3402G>A (p.Val1134=) rs727503877 0.00001
NM_014251.3(SLC25A13):c.1236C>T (p.Asn412=) rs747257110 0.00001
NM_014251.3(SLC25A13):c.1665C>T (p.Gly555=) rs199735534 0.00001
NM_014324.6(AMACR):c.714C>G (p.Pro238=) rs200824585 0.00001
NM_014363.6(SACS):c.8133G>A (p.Ser2711=) rs143386746 0.00001
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) rs772742353 0.00001
NM_014425.5(INVS):c.1980A>G (p.Gly660=) rs139314036 0.00001
NM_014780.5(CUL7):c.1005G>A (p.Leu335=) rs201310376 0.00001
NM_014780.5(CUL7):c.4068A>G (p.Glu1356=) rs886043610 0.00001
NM_014795.4(ZEB2):c.773G>A (p.Arg258Gln) rs730881173 0.00001
NM_014920.5(CILK1):c.1412C>T (p.Thr471Met) rs56164633 0.00001
NM_015102.5(NPHP4):c.3234C>G (p.Ala1078=) rs1036816659 0.00001
NM_015102.5(NPHP4):c.3927C>T (p.Asp1309=) rs377183096 0.00001
NM_015102.5(NPHP4):c.4143C>T (p.Val1381=) rs766613810 0.00001
NM_015102.5(NPHP4):c.4182G>A (p.Ala1394=) rs754549864 0.00001
NM_015102.5(NPHP4):c.510C>T (p.Pro170=) rs545943420 0.00001
NM_015107.3(PHF8):c.1731-1G>A rs797044651 0.00001
NM_015272.5(RPGRIP1L):c.1812A>G (p.Glu604=) rs779429646 0.00001
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr) rs780770984 0.00001
NM_015295.3(SMCHD1):c.3277-5C>T rs542259388 0.00001
NM_015295.3(SMCHD1):c.3519A>G (p.Ile1173Met) rs536643888 0.00001
NM_015311.3(OBSL1):c.2681-7C>T rs1193236223 0.00001
NM_015404.4(WHRN):c.1632T>C (p.Thr544=) rs759107735 0.00001
NM_015570.4(AUTS2):c.770C>G (p.Pro257Arg) rs200108105 0.00001
NM_015629.4(PRPF31):c.837C>T (p.Ile279=) rs1374316824 0.00001
NM_016180.5(SLC45A2):c.1032G>T (p.Gln344His) rs794727645 0.00001
NM_016239.4(MYO15A):c.3841G>A (p.Gly1281Arg) rs576515898 0.00001
NM_016239.4(MYO15A):c.3866+1G>A rs374742590 0.00001
NM_016239.4(MYO15A):c.6634G>A (p.Glu2212Lys) rs371352836 0.00001
NM_016247.4(IMPG2):c.829-1G>T rs776740276 0.00001
NM_016729.3(FOLR1):c.261C>T (p.Asn87=) rs375444839 0.00001
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys) rs193302867 0.00001
NM_017617.5(NOTCH1):c.1380G>A (p.Pro460=) rs368963607 0.00001
NM_017668.3(NDE1):c.513T>C (p.Asp171=) rs794727785 0.00001
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=) rs200730202 0.00001
NM_017777.4(MKS1):c.959-8T>G rs763444295 0.00001
NM_017780.4(CHD7):c.3463C>T (p.Arg1155Cys) rs201769233 0.00001
NM_017780.4(CHD7):c.768C>T (p.Phe256=) rs727503859 0.00001
NM_018006.5(TRMU):c.579G>T (p.Gly193=) rs1294405938 0.00001
NM_018006.5(TRMU):c.651+9G>A rs1006261196 0.00001
NM_018006.5(TRMU):c.705+10del rs1569081805 0.00001
NM_018006.5(TRMU):c.879C>T (p.Pro293=) rs781401971 0.00001
NM_018006.5(TRMU):c.954C>T (p.Pro318=) rs758271660 0.00001
NM_018100.4(EFHC1):c.564A>G (p.Gln188=) rs766444850 0.00001
NM_018122.5(DARS2):c.159_160del (p.Cys54fs) rs773706813 0.00001
NM_018136.5(ASPM):c.174A>T (p.Gly58=) rs908430857 0.00001
NM_018136.5(ASPM):c.4035A>G (p.Lys1345=) rs537034419 0.00001
NM_018451.5(CPAP):c.2457T>C (p.Tyr819=) rs780573822 0.00001
NM_018668.5(VPS33B):c.456G>T (p.Leu152=) rs997425993 0.00001
NM_018668.5(VPS33B):c.75G>A (p.Gln25=) rs1289650070 0.00001
NM_019066.5(MAGEL2):c.42G>A (p.Pro14=) rs794726942 0.00001
NM_020223.4(FAM20C):c.915C>T (p.Tyr305=) rs150808056 0.00001
NM_020247.5(COQ8A):c.819G>A (p.Ala273=) rs371866536 0.00001
NM_020247.5(COQ8A):c.957C>T (p.Asp319=) rs764147237 0.00001
NM_020436.5(SALL4):c.1567G>C (p.Gly523Arg) rs113920122 0.00001
NM_020442.6(VARS2):c.1468C>T (p.Arg490Ter) rs778868393 0.00001
NM_020754.4(ARHGAP31):c.1430C>T (p.Pro477Leu) rs200233879 0.00001
NM_020779.4(WDR35):c.1468del (p.Gln490fs) rs886044119 0.00001
NM_020812.4(DOCK6):c.3562C>T (p.Gln1188Ter) rs372751467 0.00001
NM_020822.3(KCNT1):c.2594+6G>A rs973179248 0.00001
NM_020822.3(KCNT1):c.285C>T (p.Asn95=) rs558966732 0.00001
NM_020822.3(KCNT1):c.299G>A (p.Arg100Gln) rs752032951 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_021167.5(GATAD1):c.*4A>G rs768338694 0.00001
NM_021939.4(FKBP10):c.1399+8G>T rs782073490 0.00001
NM_022081.6(HPS4):c.2040C>T (p.Ser680=) rs752931351 0.00001
NM_022124.6(CDH23):c.4782C>T (p.Arg1594=) rs756336099 0.00001
NM_022124.6(CDH23):c.8065-8G>A rs376332131 0.00001
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) rs121908355 0.00001
NM_022124.6(CDH23):c.9759C>T (p.Asp3253=) rs540567272 0.00001
NM_022436.3(ABCG5):c.1446C>T (p.Phe482=) rs886044572 0.00001
NM_022436.3(ABCG5):c.1602G>C (p.Val534=) rs1280735521 0.00001
NM_022436.3(ABCG5):c.780T>C (p.Phe260=) rs765847597 0.00001
NM_022436.3(ABCG5):c.828G>A (p.Thr276=) rs539178581 0.00001
NM_022437.3(ABCG8):c.1059G>C (p.Val353=) rs751866338 0.00001
NM_022437.3(ABCG8):c.1117T>C (p.Cys373Arg) rs554680915 0.00001
NM_022437.3(ABCG8):c.1211+7A>T rs568899040 0.00001
NM_022437.3(ABCG8):c.1212-10G>C rs765938367 0.00001
NM_022437.3(ABCG8):c.1533C>T (p.Tyr511=) rs763640657 0.00001
NM_022437.3(ABCG8):c.1789C>A (p.Arg597=) rs776778929 0.00001
NM_022437.3(ABCG8):c.1923C>T (p.Tyr641=) rs369023184 0.00001
NM_022437.3(ABCG8):c.579G>A (p.Ala193=) rs747555833 0.00001
NM_022455.5(NSD1):c.2103G>A (p.Lys701=) rs727504053 0.00001
NM_022455.5(NSD1):c.3355C>G (p.Pro1119Ala) rs727504054 0.00001
NM_022455.5(NSD1):c.7779C>T (p.Ala2593=) rs398124388 0.00001
NM_022726.4(ELOVL4):c.192A>C (p.Pro64=) rs201014417 0.00001
NM_023036.6(DNAI2):c.1697del (p.Asp566fs) rs764971993 0.00001
NM_023110.3(FGFR1):c.615C>T (p.Gly205=) rs781689191 0.00001
NM_024079.5(ALG8):c.1134G>T (p.Trp378Cys) rs867450807 0.00001
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) rs104894681 0.00001
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr) rs1301397800 0.00001
NM_024301.5(FKRP):c.313C>T (p.Gln105Ter) rs761821795 0.00001
NM_024301.5(FKRP):c.544T>C (p.Tyr182His) rs753390261 0.00001
NM_024301.5(FKRP):c.703C>T (p.Leu235=) rs1428469954 0.00001
NM_024408.4(NOTCH2):c.1134A>G (p.Ala378=) rs782178170 0.00001
NM_024408.4(NOTCH2):c.1791C>T (p.Pro597=) rs781999109 0.00001
NM_024408.4(NOTCH2):c.2026+6G>T rs587731563 0.00001
NM_024408.4(NOTCH2):c.3252G>A (p.Glu1084=) rs372751663 0.00001
NM_024408.4(NOTCH2):c.4992G>A (p.Val1664=) rs587748556 0.00001
NM_024408.4(NOTCH2):c.7199G>A (p.Arg2400Gln) rs587654671 0.00001
NM_024408.4(NOTCH2):c.822T>G (p.Val274=) rs782642000 0.00001
NM_024596.5(MCPH1):c.954T>C (p.Ala318=) rs770723949 0.00001
NM_024649.5(BBS1):c.1743C>T (p.His581=) rs61890368 0.00001
NM_024675.4(PALB2):c.2505C>T (p.Ser835=) rs756502783 0.00001
NM_024685.4(BBS10):c.483A>G (p.Lys161=) rs748732850 0.00001
NM_024747.6(HPS6):c.105T>C (p.Arg35=) rs573488604 0.00001
NM_024757.5(EHMT1):c.3687C>T (p.Thr1229=) rs201655114 0.00001
NM_024757.5(EHMT1):c.575C>T (p.Pro192Leu) rs35285441 0.00001
NM_025074.7(FRAS1):c.6876T>C (p.Asp2292=) rs779794904 0.00001
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=) rs765002773 0.00001
NM_030665.4(RAI1):c.1850C>A (p.Ala617Asp) rs549244691 0.00001
NM_030665.4(RAI1):c.1937A>C (p.His646Pro) rs757197196 0.00001
NM_030665.4(RAI1):c.3720C>T (p.Val1240=) rs778274557 0.00001
NM_030665.4(RAI1):c.3913G>A (p.Ala1305Thr) rs794727521 0.00001
NM_030665.4(RAI1):c.4616G>A (p.Arg1539His) rs776440167 0.00001
NM_031407.7(HUWE1):c.10492G>A (p.Ala3498Thr) rs782773400 0.00001
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter) rs201196733 0.00001
NM_032119.4(ADGRV1):c.10066A>G (p.Ile3356Val) rs727503078 0.00001
NM_032119.4(ADGRV1):c.1140A>G (p.Gln380=) rs373902384 0.00001
NM_032119.4(ADGRV1):c.12176C>T (p.Thr4059Met) rs376833921 0.00001
NM_032119.4(ADGRV1):c.1254A>G (p.Thr418=) rs1315101894 0.00001
NM_032119.4(ADGRV1):c.15959A>T (p.Asp5320Val) rs398124425 0.00001
NM_032119.4(ADGRV1):c.16745C>T (p.Thr5582Met) rs771468922 0.00001
NM_032119.4(ADGRV1):c.17349A>G (p.Ala5783=) rs747992951 0.00001
NM_032119.4(ADGRV1):c.17794A>C (p.Arg5932=) rs747728554 0.00001
NM_032119.4(ADGRV1):c.17973+7A>G rs751094041 0.00001
NM_032119.4(ADGRV1):c.222C>T (p.Asp74=) rs181146384 0.00001
NM_032119.4(ADGRV1):c.2735-8T>C rs1181016921 0.00001
NM_032119.4(ADGRV1):c.2820A>G (p.Val940=) rs369910075 0.00001
NM_032119.4(ADGRV1):c.3563T>C (p.Ile1188Thr) rs368562997 0.00001
NM_032119.4(ADGRV1):c.4168A>G (p.Asn1390Asp) rs794727329 0.00001
NM_032119.4(ADGRV1):c.5379T>C (p.Thr1793=) rs772972763 0.00001
NM_032119.4(ADGRV1):c.754A>G (p.Ile252Val) rs1299020576 0.00001
NM_032119.4(ADGRV1):c.8292G>A (p.Ser2764=) rs778011573 0.00001
NM_032119.4(ADGRV1):c.8791A>G (p.Met2931Val) rs1250073917 0.00001
NM_032119.4(ADGRV1):c.8938T>C (p.Leu2980=) rs397517442 0.00001
NM_032273.4(TMEM126A):c.385C>G (p.Leu129Val) rs546358774 0.00001
NM_033056.4(PCDH15):c.4608A>G (p.Val1536=) rs727504070 0.00001
NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=) rs529962978 0.00001
NM_033056.4(PCDH15):c.5805G>T (p.Gly1935=) rs727504069 0.00001
NM_033109.5(PNPT1):c.1923G>A (p.Gln641=) rs779794474 0.00001
NM_033337.3(CAV3):c.-2C>T rs772475990 0.00001
NM_033337.3(CAV3):c.117G>C (p.Val39=) rs753959620 0.00001
NM_053025.4(MYLK):c.588+10C>T rs886038709 0.00001
NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln) rs771937610 0.00001
NM_080680.3(COL11A2):c.1298G>A (p.Arg433Gln) rs762813373 0.00001
NM_080680.3(COL11A2):c.3182G>A (p.Arg1061Gln) rs528982644 0.00001
NM_080916.3(DGUOK):c.143-4G>A rs544350167 0.00001
NM_080916.3(DGUOK):c.405G>A (p.Lys135=) rs775871024 0.00001
NM_080916.3(DGUOK):c.494A>T (p.Glu165Val) rs770950831 0.00001
NM_080916.3(DGUOK):c.808-10C>G rs758503693 0.00001
NM_130468.4(CHST14):c.198C>G (p.Ala66=) rs1014902072 0.00001
NM_130810.4(DNAAF4):c.808C>T (p.Arg270Ter) rs397515621 0.00001
NM_130837.3(OPA1):c.1398T>C (p.Ala466=) rs886043473 0.00001
NM_130837.3(OPA1):c.1936-2A>G rs747454971 0.00001
NM_130837.3(OPA1):c.2729T>G (p.Leu910Arg) rs139106405 0.00001
NM_130837.3(OPA1):c.3048A>C (p.Ter1016Tyr) rs143929819 0.00001
NM_130839.5(UBE3A):c.1965A>G (p.Leu655=) rs371296838 0.00001
NM_133379.5(TTN):c.11940T>C (p.Asn3980=) rs923904530 0.00001
NM_133379.5(TTN):c.14055A>G (p.Arg4685=) rs1466986172 0.00001
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=) rs555179389 0.00001
NM_133433.4(NIPBL):c.6400C>T (p.Leu2134=) rs372730081 0.00001
NM_133433.4(NIPBL):c.772-8A>G rs398124473 0.00001
NM_133642.5(LARGE1):c.1611G>A (p.Glu537=) rs372629986 0.00001
NM_138364.4(PRMT9):c.773A>T (p.Asp258Val) rs200956405 0.00001
NM_138694.4(PKHD1):c.10893T>C (p.Tyr3631=) rs1290859259 0.00001
NM_138694.4(PKHD1):c.2697T>A (p.Thr899=) rs1562217633 0.00001
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr) rs794727566 0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946 0.00001
NM_138694.4(PKHD1):c.5520C>T (p.Cys1840=) rs535128714 0.00001
NM_138694.4(PKHD1):c.6042C>T (p.Tyr2014=) rs373208457 0.00001
NM_138694.4(PKHD1):c.642G>A (p.Gln214=) rs762584715 0.00001
NM_138694.4(PKHD1):c.7308T>G (p.Thr2436=) rs771622189 0.00001
NM_138694.4(PKHD1):c.7641A>G (p.Ser2547=) rs771563591 0.00001
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816 0.00001
NM_138694.4(PKHD1):c.8997A>G (p.Pro2999=) rs777095602 0.00001
NM_144573.4(NEXN):c.1653A>G (p.Leu551=) rs794727078 0.00001
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del) rs398124529 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_147127.5(EVC2):c.2758C>T (p.Leu920Phe) rs762404021 0.00001
NM_152419.3(HGSNAT):c.1464+1G>A rs398124545 0.00001
NM_152564.5(VPS13B):c.2651-10T>G rs398124330 0.00001
NM_152564.5(VPS13B):c.3690T>C (p.Thr1230=) rs751715193 0.00001
NM_152564.5(VPS13B):c.7087A>C (p.Lys2363Gln) rs533701597 0.00001
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys) rs138453594 0.00001
NM_152617.4(RNF168):c.391C>T (p.Arg131Ter) rs201915239 0.00001
NM_153026.3(PRICKLE1):c.1176T>C (p.Phe392=) rs571386763 0.00001
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=) rs558637226 0.00001
NM_153240.5(NPHP3):c.306C>T (p.Arg102=) rs762134618 0.00001
NM_153240.5(NPHP3):c.3226C>T (p.Arg1076Trp) rs553665584 0.00001
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter) rs762551629 0.00001
NM_153676.4(USH1C):c.2391G>A (p.Val797=) rs375973884 0.00001
NM_153676.4(USH1C):c.966G>C (p.Arg322=) rs748749433 0.00001
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter) rs769957689 0.00001
NM_170707.4(LMNA):c.111G>A (p.Glu37=) rs886038906 0.00001
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889 0.00001
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys) rs28928902 0.00001
NM_170707.4(LMNA):c.1488+8G>A rs762836610 0.00001
NM_170707.4(LMNA):c.1583C>T (p.Thr528Met) rs57629361 0.00001
NM_170707.4(LMNA):c.498G>A (p.Arg166=) rs886043189 0.00001
NM_170707.4(LMNA):c.643C>T (p.Leu215=) rs397517905 0.00001
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591 0.00001
NM_170707.4(LMNA):c.732G>A (p.Ala244=) rs756952925 0.00001
NM_170707.4(LMNA):c.870G>A (p.Glu290=) rs747275587 0.00001
NM_172107.4(KCNQ2):c.1209C>T (p.Leu403=) rs752280961 0.00001
NM_172107.4(KCNQ2):c.2052C>T (p.Gly684=) rs764444302 0.00001
NM_176787.5(PIGN):c.562C>T (p.His188Tyr) rs773629540 0.00001
NM_176787.5(PIGN):c.981dup (p.Met328fs) rs776697598 0.00001
NM_176824.3(BBS7):c.189G>T (p.Gly63=) rs541833400 0.00001
NM_176824.3(BBS7):c.213G>A (p.Leu71=) rs778509860 0.00001
NM_178335.3(CCDC50):c.1430-9C>G rs794727079 0.00001
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017 0.00001
NM_181332.3(NLGN4X):c.2223C>T (p.His741=) rs541646409 0.00001
NM_182914.3(SYNE2):c.18393C>T (p.Ile6131=) rs370317926 0.00001
NM_182961.4(SYNE1):c.10444-6T>C rs376803162 0.00001
NM_182961.4(SYNE1):c.10650C>T (p.Asn3550=) rs772377391 0.00001
NM_182961.4(SYNE1):c.11238A>G (p.Lys3746=) rs149393972 0.00001
NM_182961.4(SYNE1):c.11490G>A (p.Gln3830=) rs746623465 0.00001
NM_182961.4(SYNE1):c.14079A>G (p.Gln4693=) rs778820710 0.00001
NM_182961.4(SYNE1):c.18090C>T (p.Ser6030=) rs146238726 0.00001
NM_182961.4(SYNE1):c.19815T>A (p.Gly6605=) rs776418227 0.00001
NM_182961.4(SYNE1):c.20322G>A (p.Glu6774=) rs758437949 0.00001
NM_182961.4(SYNE1):c.23145+6T>G rs794727081 0.00001
NM_182961.4(SYNE1):c.24633C>T (p.Ile8211=) rs201078523 0.00001
NM_182961.4(SYNE1):c.26106G>A (p.Lys8702=) rs765865910 0.00001
NM_182961.4(SYNE1):c.26355C>T (p.His8785=) rs771334693 0.00001
NM_182961.4(SYNE1):c.3735C>T (p.Leu1245=) rs758375991 0.00001
NM_182961.4(SYNE1):c.7611G>T (p.Arg2537Ser) rs568309673 0.00001
NM_182961.4(SYNE1):c.9933C>T (p.Ser3311=) rs759403157 0.00001
NM_183050.4(BCKDHB):c.479T>G (p.Ile160Ser) rs398124576 0.00001
NM_194248.3(OTOF):c.2690G>A (p.Arg897Gln) rs760896684 0.00001
NM_194248.3(OTOF):c.3277G>A (p.Glu1093Lys) rs1064795233 0.00001
NM_198506.5(LRIT3):c.654C>T (p.Val218=) rs763629262 0.00001
NM_198525.3(KIF7):c.510A>G (p.Glu170=) rs761029778 0.00001
NM_198859.4(PRICKLE2):c.516G>A (p.Leu172=) rs727504105 0.00001
NM_198904.4(GABRG2):c.1000G>A (p.Ala334Thr) rs398123523 0.00001
NM_198965.2(PTHLH):c.408G>A (p.Gln136=) rs753350587 0.00001
NM_198999.3(SLC26A5):c.117T>G (p.Pro39=) rs764308981 0.00001
NM_201384.3(PLEC):c.10359G>A (p.Lys3453=) rs782140099 0.00001
NM_201384.3(PLEC):c.11562C>T (p.Arg3854=) rs781931763 0.00001
NM_201384.3(PLEC):c.12354C>T (p.Leu4118=) rs782692436 0.00001
NM_201384.3(PLEC):c.13023G>A (p.Val4341=) rs567904252 0.00001
NM_201384.3(PLEC):c.4117C>T (p.Arg1373Trp) rs782378494 0.00001
NM_201384.3(PLEC):c.537A>G (p.Arg179=) rs782604399 0.00001
NM_201384.3(PLEC):c.5948G>A (p.Arg1983His) rs527947459 0.00001
NM_201384.3(PLEC):c.8066G>A (p.Arg2689His) rs782161008 0.00001
NM_201384.3(PLEC):c.8175G>A (p.Thr2725=) rs1209777415 0.00001
NM_201384.3(PLEC):c.8202G>A (p.Ala2734=) rs782252692 0.00001
NM_201384.3(PLEC):c.8735C>T (p.Ala2912Val) rs935096656 0.00001
NM_201384.3(PLEC):c.9130C>T (p.Leu3044=) rs782038680 0.00001
NM_201525.4(ADGRG1):c.1191C>T (p.Ala397=) rs1367685651 0.00001
NM_201525.4(ADGRG1):c.1537C>T (p.Leu513=) rs762771228 0.00001
NM_201525.4(ADGRG1):c.1578G>A (p.Thr526=) rs727503955 0.00001
NM_206933.4(USH2A):c.13097C>T (p.Ala4366Val) rs727505097 0.00001
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385 0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544 0.00001
NM_206933.4(USH2A):c.13547G>C (p.Gly4516Ala) rs774759345 0.00001
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471 0.00001
NM_206933.4(USH2A):c.15546C>T (p.Asn5182=) rs546494522 0.00001
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284 0.00001
NM_206933.4(USH2A):c.3489C>T (p.Asp1163=) rs139156019 0.00001
NM_206933.4(USH2A):c.3887T>C (p.Val1296Ala) rs552551256 0.00001
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter) rs1461319754 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_206933.4(USH2A):c.6958-10A>G rs727504213 0.00001
NM_207346.3(TSEN54):c.1276G>A (p.Val426Met) rs747473434 0.00001
NM_207346.3(TSEN54):c.1527C>T (p.Asp509=) rs201415896 0.00001
NM_207361.6(FREM2):c.7177G>A (p.Ala2393Thr) rs769767420 0.00001
NM_213599.3(ANO5):c.139-1del rs868484837 0.00001
NM_213599.3(ANO5):c.1391C>A (p.Ala464Asp) rs529961953 0.00001
NM_213599.3(ANO5):c.169C>T (p.Arg57Trp) rs1323349209 0.00001
NM_213599.3(ANO5):c.1800+5G>A rs794727179 0.00001
NM_213599.3(ANO5):c.1801-9T>C rs202034123 0.00001
NM_213599.3(ANO5):c.185A>G (p.Gln62Arg) rs754497228 0.00001
NM_213599.3(ANO5):c.2345C>G (p.Ser782Ter) rs753138577 0.00001
NM_213599.3(ANO5):c.2470del (p.Gln824fs) rs770694933 0.00001
NM_213599.3(ANO5):c.69C>A (p.Tyr23Ter) rs762035813 0.00001
CYP2C9*6 rs9332131
CYP2D6*17 rs28371706
NC_000011.10:g.17634839_17634845dup rs1295062471
NC_000011.10:g.47349937del rs11570050
NC_000011.10:g.77198597_77198604delinsCA rs111033259
NC_000016.10:g.5071998A>G rs794726944
NM_000016.6(ACADM):c.387+1del rs786204424
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del) rs875989857
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC rs1057516686
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000018.4(ACADVL):c.436G>C (p.Val146Leu) rs398123089
NM_000018.4(ACADVL):c.678C>A (p.Ala226=) rs372114185
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del) rs769280599
NM_000018.4(ACADVL):c.869dup (p.Ile291fs) rs886044671
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys) rs398123098
NM_000023.4(SGCA):c.38-46G>C rs142537375
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter) rs780264754
NM_000023.4(SGCA):c.541C>A (p.Arg181Ser) rs574376340
NM_000023.4(SGCA):c.861G>A (p.Leu287=) rs1555569293
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp) rs398123106
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.498_520del (p.Val167fs) rs398123112
NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu) rs398123113
NM_000033.4(ABCD1):c.662A>C (p.Asp221Ala) rs1569540711
NM_000035.4(ALDOB):c.759C>T (p.Thr253=) rs146360505
NM_000036.3(AMPD1):c.35-7_35-4del rs398123114
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.2547_2550del (p.Asp849fs) rs398123118
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.4212C>T (p.Ser1404=) rs144655979
NM_000044.6(AR):c.171GCA[25] (p.Gln79_Gln80dup) rs3032358
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000049.4(ASPA):c.693C>T (p.Tyr231=) rs12948217
NM_000051.4(ATM):c.1380G>C (p.Thr460=) rs145333518
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=) rs746358240
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000059.4(BRCA2):c.10102T>C (p.Ser3368Pro) rs786205482
NM_000059.4(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) rs276174831
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.4(BRCA2):c.6513G>T (p.Val2171=) rs206076
NM_000059.4(BRCA2):c.67+16A>T rs529148674
NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser) rs587781485
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu) rs794727895
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.1227A>C (p.Thr409=) rs111806046
NM_000070.3(CAPN3):c.1227A>G (p.Thr409=) rs111806046
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly) rs886042895
NM_000070.3(CAPN3):c.1517T>C (p.Ile506Thr) rs1555422136
NM_000070.3(CAPN3):c.1745+4_1745+7del rs794727082
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.2179del (p.Trp727fs) rs886042964
NM_000070.3(CAPN3):c.2255ACG[1] (p.Asp753del) rs886043333
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs) rs775130589
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000070.3(CAPN3):c.500T>C (p.Phe167Ser) rs886042296
NM_000070.3(CAPN3):c.580del (p.Ser194fs) rs398123149
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu) rs1555420634
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del) rs794727697
NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs) rs863224966
NM_000071.3(CBS):c.1064C>T (p.Ala355Val) rs772384826
NM_000071.3(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del) rs794727835
NM_000079.4(CHRNA1):c.204G>A (p.Gln68=) rs886043372
NM_000080.4(CHRNE):c.1093del (p.Ala365fs) rs886043239
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000088.4(COL1A1):c.1300-8C>T rs41317361
NM_000088.4(COL1A1):c.2283C>T (p.Gly761=) rs759665341
NM_000088.4(COL1A1):c.2434G>A (p.Gly812Ser) rs886042260
NM_000088.4(COL1A1):c.2838T>G (p.Pro946=) rs1555572418
NM_000088.4(COL1A1):c.3046-20CT[10] rs138425306
NM_000088.4(COL1A1):c.3207+8G>T rs866785621
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000088.4(COL1A1):c.516C>T (p.Thr172=) rs377195143
NM_000091.5(COL4A3):c.3825C>T (p.His1275=) rs143380907
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000093.5(COL5A1):c.4184del (p.Pro1395fs) rs794727760
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000093.5(COL5A1):c.67CTG[7] (p.Leu28dup) rs773994971
NM_000095.3(COMP):c.218-14C>T rs150008764
NM_000098.3(CPT2):c.371G>C (p.Arg124Pro) rs1131691925
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe) rs515726173
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys) rs375968699
NM_000101.4(CYBA):c.204-4C>A rs377055239
NM_000101.4(CYBA):c.524CGG[3] (p.Ala176dup) rs760275837
NM_000104.4(CYP1B1):c.1590T>C (p.Asp530=) rs146770394
NM_000106.5(CYP2D6):c.*264G>A (p.Gly169Arg) rs5030865
NM_000106.5(CYP2D6):c.505G>T (p.Gly169Ter) rs5030865
NM_000106.6(CYP2D6):c.841_843del (p.Lys281del) rs5030656
NM_000117.3(EMD):c.144C>G (p.Leu48=) rs200537612
NM_000117.3(EMD):c.460A>G (p.Met154Val) rs782806462
NM_000117.3(EMD):c.466G>C (p.Gly156Arg) rs144594695
NM_000117.3(EMD):c.548C>T (p.Pro183Leu) rs104894805
NM_000117.3(EMD):c.610C>G (p.Arg204Gly) rs782299893
NM_000124.4(ERCC6):c.2287-4G>A rs375617750
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser) rs574272317
NM_000128.4(F11):c.1560G>T (p.Gly520=) rs794727084
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs) rs776969626
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.345+4AG[2] rs755657969
NM_000138.5(FBN1):c.4172G>T (p.Cys1391Phe) rs1352478541
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.5(FBN1):c.5358T>C (p.Val1786=) rs1057521207
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000141.5(FGFR2):c.1086G>C (p.Ala362=) rs151250769
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met) rs199544087
NM_000142.5(FGFR3):c.598C>T (p.Arg200Cys) rs886043613
NM_000143.4(FH):c.1067T>A (p.Leu356Ter) rs727503927
NM_000143.4(FH):c.1126C>T (p.Gln376Ter) rs398123160
NM_000143.4(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.1520T>C (p.Leu507Pro) rs1425094515
NM_000143.4(FH):c.437G>A (p.Gly146Glu) rs11545654
NM_000143.4(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000147.5(FUCA1):c.29C>G (p.Pro10Arg) rs2070956
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479
NM_000152.5(GAA):c.1082C>G (p.Pro361Arg) rs755253527
NM_000152.5(GAA):c.1416C>G (p.Thr472=) rs368492669
NM_000152.5(GAA):c.1434G>A (p.Gly478=) rs886043285
NM_000152.5(GAA):c.1438-7_1438-5del rs764583466
NM_000152.5(GAA):c.1536C>T (p.Phe512=) rs143491365
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.5(GAA):c.1722C>T (p.Leu574=) rs561357893
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro) rs775450536
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe) rs1024137874
NM_000152.5(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro) rs398123172
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser) rs143324027
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2391C>T (p.Ala797=) rs767494597
NM_000152.5(GAA):c.2647-6G>A rs201525743
NM_000152.5(GAA):c.2800-15CT[3] rs770227589
NM_000152.5(GAA):c.546G>C (p.Thr182=) rs143523371
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs) rs786204532
NM_000152.5(GAA):c.858+6GCGGCGG[3] rs1555599723
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000153.4(GALC):c.1158_1161+6del rs759068540
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000155.4(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.203A>C (p.His68Pro) rs193922247
NM_000155.4(GALT):c.289_291del (p.Asn97del) rs398123179
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.414G>T (p.Thr138=) rs116479817
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser) rs886043390
NM_000155.4(GALT):c.812A>G (p.Glu271Gly) rs111033765
NM_000155.4(GALT):c.893T>C (p.Met298Thr) rs886042064
NM_000157.4(GBA1):c.1060G>C (p.Asp354His) rs398123526
NM_000157.4(GBA1):c.1227C>A (p.Asn409Lys) rs749227753
NM_000157.4(GBA1):c.1240G>T (p.Val414Leu) rs398123528
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg) rs421016
NM_000157.4(GBA1):c.354G>C (p.Lys118Asn) rs121908312
NM_000157.4(GBA1):c.521A>G (p.Tyr174Cys) rs781152868
NM_000157.4(GBA1):c.680_681delinsGG (p.Asn227Arg) rs786200979
NM_000159.4(GCDH):c.1167G>A (p.Leu389=) rs398123191
NM_000159.4(GCDH):c.997C>G (p.Gln333Glu) rs794726972
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000162.5(GCK):c.601G>T (p.Ala201Ser) rs794727775
NM_000162.5(GCK):c.688T>C (p.Cys230Arg) rs794727839
NM_000166.6(GJB1):c.271G>A (p.Val91Met) rs756928158
NM_000168.6(GLI3):c.2826G>T (p.Pro942=) rs34245321
NM_000169.3(GLA):c.1019_1020insA (p.Trp340Ter) rs398123197
NM_000169.3(GLA):c.1072_1074del (p.Glu358del) rs730880453
NM_000169.3(GLA):c.1078G>C (p.Gly360Arg) rs782598150
NM_000169.3(GLA):c.1085C>T (p.Pro362Leu) rs730880441
NM_000169.3(GLA):c.125T>C (p.Met42Thr) rs398123201
NM_000169.3(GLA):c.137A>G (p.His46Arg) rs398123203
NM_000169.3(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.3(GLA):c.254G>T (p.Gly85Val) rs1569304898
NM_000169.3(GLA):c.281G>A (p.Cys94Tyr) rs113173389
NM_000169.3(GLA):c.394G>A (p.Gly132Arg) rs1555985855
NM_000169.3(GLA):c.610T>C (p.Trp204Arg) rs869312148
NM_000169.3(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.3(GLA):c.639+4A>T rs398123215
NM_000169.3(GLA):c.704C>G (p.Ser235Cys) rs797044746
NM_000169.3(GLA):c.801+3A>G rs797044748
NM_000169.3(GLA):c.842_844del (p.Val281_Thr282delinsAla) rs1555985004
NM_000169.3(GLA):c.865A>T (p.Ile289Phe) rs140329381
NM_000169.3(GLA):c.95T>C (p.Leu32Pro) rs1569306168
NM_000179.3(MSH6):c.2752C>T (p.His918Tyr) rs1558666591
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3393T>C (p.Leu1131=) rs757716138
NM_000179.3(MSH6):c.3646+35_3646+38del rs1805181
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del) rs552184470
NM_000181.4(GUSB):c.1534G>A (p.Gly512Arg) rs794726973
NM_000190.4(HMBS):c.962G>A (p.Arg321His) rs150428209
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter) rs137852494
NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg) rs137852488
NM_000194.3(HPRT1):c.134+6_134+9del rs794727238
NM_000195.5(HPS1):c.1653T>G (p.Thr551=) rs765995574
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val) rs1554892764
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg) rs398123244
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000202.8(IDS):c.419-16dup rs781852261
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.1650+5G>A rs398123256
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp) rs886043347
NM_000207.3(INS):c.188-31G>A rs797045623
NM_000208.4(INSR):c.3165G>A (p.Ala1055=) rs201445608
NM_000208.4(INSR):c.653-23TC[11] rs3835070
NM_000208.4(INSR):c.653-23TC[9] rs3835070
NM_000208.4(INSR):c.653-9T>C rs868296217
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) rs193922357
NM_000214.3(JAG1):c.100C>T (p.Gln34Ter) rs1555830976
NM_000214.3(JAG1):c.1452_1453del (p.Cys484_Glu485delinsTer) rs1568796236
NM_000214.3(JAG1):c.2682+1G>T rs1568792238
NM_000214.3(JAG1):c.294C>G (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys) rs794727618
NM_000214.3(JAG1):c.64T>C (p.Cys22Arg) rs1555831004
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.3(KCNQ1):c.879C>A (p.Arg293=) rs181106858
NM_000231.3(SGCG):c.196-6dup rs568365779
NM_000231.3(SGCG):c.507G>T (p.Gly169=) rs199905729
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000231.3(SGCG):c.579-21_579-20del rs769893030
NM_000231.3(SGCG):c.599del (p.Ser200fs) rs886043860
NM_000232.5(SGCB):c.430-5dup rs762831481
NM_000232.5(SGCB):c.9_14dup (p.Ala8_Ala9dup) rs886044103
NM_000233.4(LHCGR):c.50_55dup (p.Gln18_Pro19insLeuGln) rs71245621
NM_000235.4(LIPA):c.1032C>G (p.His344Gln) rs779601441
NM_000235.4(LIPA):c.429-10T>G rs1554865817
NM_000235.4(LIPA):c.539-5C>A rs2297472
NM_000235.4(LIPA):c.615C>G (p.Ser205=) rs143930279
NM_000235.4(LIPA):c.615C>T (p.Ser205=) rs143930279
NM_000235.4(LIPA):c.618C>T (p.Val206=) rs763651849
NM_000235.4(LIPA):c.885C>T (p.His295=) rs886044197
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000243.3(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000245.4(MET):c.2584-7del rs587780736
NM_000249.4(MLH1):c.1039-8del rs57509953
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.4(MLH1):c.885-21TC[2] rs267607804
NM_000252.3(MTM1):c.1291G>A (p.Asp431Asn) rs886044782
NM_000252.3(MTM1):c.1537_1564delinsAACTGGA (p.Phe513_Leu522delinsAsnTrpIle) rs398123271
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser) rs775593146
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.2833_2834del (p.Arg945fs) rs397515987
NM_000257.4(MYH7):c.1755C>T (p.Ile585=) rs201860580
NM_000257.4(MYH7):c.2052G>A (p.Met684Ile) rs727503262
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) rs794727410
NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp) rs145734640
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His) rs148343670
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.3927G>T (p.Val1309=) rs181729570
NM_000260.4(MYO7A):c.4441+8G>A rs766743441
NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=) rs111033287
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp) rs748080151
NM_000260.4(MYO7A):c.5598C>A (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5860C>G (p.Leu1954Val) rs948962
NM_000260.4(MYO7A):c.6614_6634dup (p.Met2205_Ser2211dup) rs111033388
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser) rs86312
NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro) rs886042073
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) rs115888189
NM_000264.5(PTCH1):c.-24GGC[5] rs71366293
NM_000264.5(PTCH1):c.-24GGC[8] rs71366293
NM_000264.5(PTCH1):c.-24GGC[9] rs71366293
NM_000264.5(PTCH1):c.343G>T (p.Gly115Ter) rs794727242
NM_000264.5(PTCH1):c.3624C>T (p.Ala1208=) rs149691476
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000264.5(PTCH1):c.4020C>T (p.Gly1340=) rs773564643
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=) rs62637631
NM_000266.3(NDP):c.-421_-408CTCTCTCTCTCTCC[1] rs770996360
NM_000266.4(NDP):c.155T>A (p.Leu52Ter) rs886043097
NM_000271.5(NPC1):c.1521C>T (p.Ala507=) rs780100866
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln) rs483352886
NM_000271.5(NPC1):c.1947+10G>A rs71534236
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+10_1947+11insGGC rs1555634676
NM_000271.5(NPC1):c.1947+7_1947+8insCGG rs1555634618
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG rs1555634618
NM_000271.5(NPC1):c.1947+7_1947+8insCGGGG rs1555634618
NM_000271.5(NPC1):c.1947+8_1947+11dup rs3837910
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000271.5(NPC1):c.1947+9_1947+10insC rs1555634683
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs) rs1064794009
NM_000271.5(NPC1):c.67del (p.Gln23fs) rs886043131
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del) rs758687942
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_000275.3(OCA2):c.1015G>T (p.Ala339Ser) rs148468031
NM_000275.3(OCA2):c.1954T>A (p.Trp652Arg) rs886043514
NM_000275.3(OCA2):c.2177_2181del (p.Val726fs) rs771620099
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000276.4(OCRL):c.1498C>G (p.Arg500Gly) rs398123287
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys) rs137853263
NM_000277.3(PAH):c.1065+3A>G rs62508689
NM_000277.3(PAH):c.500A>T (p.Asn167Ile) rs77554925
NM_000277.3(PAH):c.510-20_510-18dup rs398123293
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn) rs150639487
NM_000283.4(PDE6B):c.928-9_940dup rs539992414
NM_000284.4(PDHA1):c.311T>C (p.Leu104Pro) rs794727621
NM_000286.3(PEX12):c.681-3_681-2del rs138568975
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs) rs61752107
NM_000287.4(PEX6):c.*438TAAA[1] rs144286892
NM_000287.4(PEX6):c.1202T>A (p.Leu401Ter) rs886044436
NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp) rs771063294
NM_000287.4(PEX6):c.1338_1339del (p.Ala447fs) rs398123303
NM_000287.4(PEX6):c.1774G>A (p.Glu592Lys) rs375288192
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000287.4(PEX6):c.2095-21_2095-10del rs772869377
NM_000287.4(PEX6):c.2301-5_2301-2del rs748032659
NM_000287.4(PEX6):c.235G>C (p.Ala79Pro) rs61752141
NM_000287.4(PEX6):c.855C>A (p.Pro285=) rs757897959
NM_000288.4(PEX7):c.130+10C>A rs794726882
NM_000288.4(PEX7):c.330C>T (p.His110=) rs199648976
NM_000288.4(PEX7):c.748-5del rs563675060
NM_000291.4(PGK1):c.639C>T (p.Gly213=) rs797044505
NM_000292.3(PHKA2):c.3373G>A (p.Glu1125Lys) rs1555988071
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys) rs34667348
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) rs143370956
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del) rs775982338
NM_000295.5(SERPINA1):c.514G>T (p.Gly172Trp) rs112030253
NM_000295.5(SERPINA1):c.552C>T (p.Tyr184=) rs199422210
NM_000297.4(PKD2):c.1094+3_1094+6del rs1553925470
NM_000297.4(PKD2):c.2846C>G (p.Ser949Cys) rs749666891
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup) rs750077647
NM_000297.4(PKD2):c.709+1G>A rs398123308
NM_000298.6(PKLR):c.1552C>A (p.Arg518Ser) rs139002629
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000304.4(PMP22):c.448G>T (p.Gly150Cys) rs104894624
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del) rs72555383
NM_000314.6(PTEN):c.-1170C>T rs587779981
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.314G>A (p.Cys105Tyr) rs587782343
NM_000314.8(PTEN):c.331T>C (p.Trp111Arg) rs398123321
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.8(PTEN):c.80-1_80del rs1554893747
NM_000314.8(PTEN):c.802-3dup rs34003473
NM_000314.8(PTEN):c.802-4_802-3dup rs34003473
NM_000316.3(PTH1R):c.1716C>T (p.Asp572=) rs200062157
NM_000318.3(PEX2):c.310dup (p.Ile104fs) rs1235008965
NM_000318.3(PEX2):c.825C>T (p.Asp275=) rs367649632
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del) rs572454921
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly) rs542296728
NM_000327.4(ROM1):c.213G>A (p.Ala71=) rs886042979
NM_000334.4(SCN4A):c.3893T>G (p.Phe1298Cys) rs886043595
NM_000334.4(SCN4A):c.483-5C>G rs191547933
NM_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe) rs730880211
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000337.6(SGCD):c.105G>C (p.Leu35=) rs193922392
NM_000337.6(SGCD):c.383-33CTCTCTAT[4] rs727504998
NM_000337.6(SGCD):c.516A>G (p.Thr172=) rs753952200
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000346.4(SOX9):c.507C>G (p.His169Gln) rs2229989
NM_000350.3(ABCA4):c.1343T>A (p.Met448Lys) rs777078540
NM_000350.3(ABCA4):c.1356+5_1356+6insC rs1553193877
NM_000350.3(ABCA4):c.1510A>C (p.Asn504His) rs1243753206
NM_000350.3(ABCA4):c.2869C>A (p.Gln957Lys) rs398123338
NM_000350.3(ABCA4):c.2902G>A (p.Gly968Arg) rs794727220
NM_000350.3(ABCA4):c.3262C>T (p.Pro1088Ser) rs1553190579
NM_000350.3(ABCA4):c.4203C>T (p.Pro1401=) rs1801666
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=) rs138475920
NM_000350.3(ABCA4):c.5880C>T (p.Val1960=) rs746250336
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn) rs1553186514
NM_000350.3(ABCA4):c.6319C>A (p.Arg2107Ser) rs2297669
NM_000350.3(ABCA4):c.67-2A>G rs398123339
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.870G>A (p.Arg290=) rs794727902
NM_000360.4(TH):c.342G>A (p.Glu114=) rs886038763
NM_000363.5(TNNI3):c.12-7del rs370714315
NM_000368.5(TSC1):c.737G>A (p.Arg246Lys) rs118203436
NM_000372.5(TYR):c.1037-10dup rs747032303
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala) rs797046081
NM_000372.5(TYR):c.1392dup (p.Lys465Ter) rs1555100853
NM_000372.5(TYR):c.1424_1433del (p.Trp475fs) rs1402167763
NM_000381.4(MID1):c.1767T>C (p.Asn589=) rs750022332
NM_000381.4(MID1):c.661-7dup rs375668839
NM_000381.4(MID1):c.661-8_661-7del rs375668839
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000388.4(CASR):c.1163C>G (p.Ser388Trp) rs377282860
NM_000388.4(CASR):c.2229C>T (p.Leu743=) rs372578790
NM_000388.4(CASR):c.2901C>A (p.Ile967=) rs199594582
NM_000388.4(CASR):c.888C>T (p.Ser296=) rs759988398
NM_000391.4(TPP1):c.244C>T (p.Leu82=) rs794727623
NM_000391.4(TPP1):c.687+20C>T rs569432039
NM_000392.5(ABCC2):c.1434G>A (p.Ala478=) rs4267009
NM_000392.5(ABCC2):c.1446C>T (p.Thr482=) rs113646094
NM_000392.5(ABCC2):c.1968-1G>C rs756707816
NM_000392.5(ABCC2):c.2034C>T (p.Ser678=) rs1554850241
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000392.5(ABCC2):c.2620+10_2620+12del rs764566414
NM_000392.5(ABCC2):c.2700C>T (p.Ser900=) rs1184984382
NM_000392.5(ABCC2):c.2955G>A (p.Ala985=) rs139082536
NM_000392.5(ABCC2):c.3057G>A (p.Gln1019=) rs144521346
NM_000392.5(ABCC2):c.3498C>T (p.Thr1166=) rs564908429
NM_000392.5(ABCC2):c.3525C>G (p.Ala1175=) rs1554853606
NM_000392.5(ABCC2):c.3542G>T (p.Arg1181Leu) rs8187692
NM_000392.5(ABCC2):c.3741+1G>A rs34937870
NM_000392.5(ABCC2):c.3741+1G>T rs34937870
NM_000392.5(ABCC2):c.4175_4180del (p.Arg1392_Met1393del) rs749662916
NM_000392.5(ABCC2):c.417G>T (p.Ser139=) rs145350474
NM_000392.5(ABCC2):c.4449C>T (p.Phe1483=) rs756299268
NM_000392.5(ABCC2):c.601C>T (p.Leu201=) rs749655460
NM_000392.5(ABCC2):c.636C>A (p.Ile212=) rs1564673185
NM_000393.5(COL5A2):c.1455+6G>T rs113512079
NM_000396.4(CTSK):c.541T>C (p.Tyr181His) rs868112062
NM_000400.4(ERCC2):c.594+2_594+5del rs762309206
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) rs137852320
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) rs137852317
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) rs72554665
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_000404.4(GLB1):c.792+10G>T rs79518579
NM_000414.4(HSD17B4):c.1132G>A (p.Gly378Arg) rs1006852881
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.4(HSD17B4):c.1768-6_1768-4del rs755128532
NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter) rs398123368
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000426.4(LAMA2):c.2756G>T (p.Arg919Leu) rs35277491
NM_000426.4(LAMA2):c.3623_3645del (p.Lys1208fs) rs727503992
NM_000426.4(LAMA2):c.4312-19_4312-17del rs398123374
NM_000426.4(LAMA2):c.5072-6del rs398123376
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_000426.4(LAMA2):c.6038del (p.Leu2012_Leu2013insTer) rs398123380
NM_000426.4(LAMA2):c.7279_7280del (p.Leu2427fs) rs398123385
NM_000426.4(LAMA2):c.7536del (p.Asp2513fs) rs398123387
NM_000426.4(LAMA2):c.9340G>A (p.Val3114Ile) rs200796753
NM_000428.3(LTBP2):c.110G>T (p.Arg37Met) rs934996
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp) rs13306575
NM_000436.4(OXCT1):c.78+10dup rs368390833
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) rs754012367
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000441.2(SLC26A4):c.1572C>T (p.Ile524=) rs1562837305
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000443.4(ABCB4):c.102G>T (p.Thr34=) rs1277340029
NM_000443.4(ABCB4):c.1413C>T (p.Ile471=) rs771303478
NM_000443.4(ABCB4):c.207A>G (p.Ser69=) rs914166042
NM_000443.4(ABCB4):c.2325G>A (p.Thr775=) rs8187802
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_000443.4(ABCB4):c.303G>A (p.Ser101=) rs886044650
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter) rs759202962
NM_000443.4(ABCB4):c.3244C>T (p.Leu1082=) rs1562950567
NM_000443.4(ABCB4):c.3471C>T (p.Ile1157=) rs752578370
NM_000443.4(ABCB4):c.3486+10dup rs8187809
NM_000443.4(ABCB4):c.3633+1G>T rs1245472904
NM_000443.4(ABCB4):c.3816C>T (p.Val1272=) rs1029350022
NM_000444.6(PHEX):c.1368G>C (p.Trp456Cys) rs886043680
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000451.4(SHOX):c.-55C>T rs772910213
NM_000451.4(SHOX):c.144G>A (p.Glu48=) rs750638027
NM_000451.4(SHOX):c.85AAG[1] (p.Lys30del) rs776789883
NM_000452.2(SLC10A2):c.586-4dup rs199940758
NM_000452.3(SLC10A2):c.1005G>C (p.Ser335=) rs201571450
NM_000452.3(SLC10A2):c.269T>C (p.Phe90Ser) rs199894506
NM_000452.3(SLC10A2):c.39T>C (p.Val13=) rs201994393
NM_000452.3(SLC10A2):c.39T>G (p.Val13=) rs201994393
NM_000455.5(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
NM_000458.4(HNF1B):c.1389C>T (p.Ala463=) rs761684626
NM_000458.4(HNF1B):c.1488C>T (p.Ala496=) rs773569563
NM_000458.4(HNF1B):c.1614C>T (p.Ser538=) rs1568636744
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000458.4(HNF1B):c.300C>T (p.Thr100=) rs369134247
NM_000458.4(HNF1B):c.345-4C>T rs200590728
NM_000458.4(HNF1B):c.657C>G (p.Ser219=) rs148713761
NM_000458.4(HNF1B):c.657C>T (p.Ser219=) rs148713761
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
NM_000463.2(UGT1A1):c.-53_-52insTA rs1559406508
NM_000463.3(UGT1A1):c.1060T>A (p.Trp354Arg) rs1559414817
NM_000463.3(UGT1A1):c.1084+1G>T rs587784535
NM_000463.3(UGT1A1):c.1084G>A (p.Gly362Ser) rs755218546
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_000466.3(PEX1):c.1131del (p.Asp378fs) rs886043479
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp) rs73404416
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp) rs565049190
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000466.3(PEX1):c.2584-11_2584-10del rs5885806
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro) rs954814470
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs) rs886043558
NM_000466.3(PEX1):c.363G>A (p.Leu121=) rs200866361
NM_000466.3(PEX1):c.453G>A (p.Thr151=) rs368714078
NM_000466.3(PEX1):c.468A>G (p.Gln156=) rs149729088
NM_000478.6(ALPL):c.1004G>C (p.Arg335Thr) rs1057524727
NM_000478.6(ALPL):c.188G>T (p.Gly63Val) rs1490668038
NM_000478.6(ALPL):c.395C>T (p.Ala132Val) rs1558548925
NM_000478.6(ALPL):c.746G>T (p.Gly249Val) rs121918018
NM_000478.6(ALPL):c.921G>A (p.Pro307=) rs1553414111
NM_000487.6(ARSA):c.1211-10C>T rs398123413
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000489.6(ATRX):c.134-2A>G rs398123420
NM_000489.6(ATRX):c.1446A>G (p.Glu482=) rs886044778
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del) rs398123423
NM_000489.6(ATRX):c.7366_7367del (p.Met2456fs) rs797044723
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro) rs397508144
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.4(CFTR):c.1254T>C (p.Asn418=) rs62469440
NM_000492.4(CFTR):c.1357TTG[1] (p.Leu454del) rs397508194
NM_000492.4(CFTR):c.1365G>T (p.Ala455=) rs79074685
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.1446T>A (p.Ile482=) rs914422460
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.4(CFTR):c.1766+2T>A rs1554389062
NM_000492.4(CFTR):c.1882G>C (p.Gly628Arg) rs397508316
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu) rs373885282
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg) rs142394380
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr) rs121909020
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.3717+40A>G rs397508595
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys) rs77010898
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4129G>C (p.Asp1377His) rs150683293
NM_000492.4(CFTR):c.744-33GATT[8] rs1805171
NM_000492.4(CFTR):c.870-7_870-5del rs759762840
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del) rs121908768
NM_000492.4(CFTR):c.960A>G (p.Leu320=) rs56093012
NM_000493.4(COL10A1):c.720G>A (p.Pro240=) rs112875740
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del) rs781838239
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser) rs2071307
NM_000501.4(ELN):c.1269C>T (p.Val423=) rs61734583
NM_000515.5(GH1):c.16C>A (p.Arg6=) rs140576665
NM_000515.5(GH1):c.7A>G (p.Thr3Ala) rs2001345
NM_000516.7(GNAS):c.-18GCC[7] (p.Met1_Gly2insAla) rs745433225
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) rs137854537
NM_000516.7(GNAS):c.213-5A>G rs763548893
NM_000516.7(GNAS):c.2T>C (p.Met1Thr) rs1555883949
NM_000516.7(GNAS):c.531-13_531-10del rs576071932
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp) rs137854535
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000521.4(HEXB):c.115del (p.Val39fs) rs398123443
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs) rs794727091
NM_000523.4(HOXD13):c.183_191del (p.Ala69_Ala71del) rs749930395
NM_000528.4(MAN2B1):c.2267+8dup rs572289342
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000531.6(OTC):c.228A>C (p.Leu76Phe) rs1555972495
NM_000531.6(OTC):c.299-8del rs764551624
NM_000531.6(OTC):c.572T>G (p.Leu191Arg) rs72556297
NM_000532.5(PCCB):c.183+3G>C rs398123461
NM_000533.5(PLP1):c.739G>A (p.Ala247Thr) rs886043504
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.164-5T>C rs1554305071
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.706-4dup rs60794673
NM_000535.7(PMS2):c.706-6_706-4del rs60794673
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000539.3(RHO):c.762CAT[2] (p.Ile256del) rs1553781360
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=) rs2229145
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter) rs772494345
NM_000540.3(RYR1):c.12852CACGGCGGC[1] (p.4285TAA[1]) rs398123469
NM_000540.3(RYR1):c.12860_12869delinsT (p.Ala4287_Ala4290delinsVal) rs796065337
NM_000540.3(RYR1):c.12990C>G (p.Thr4330=) rs184450380
NM_000540.3(RYR1):c.12990C>T (p.Thr4330=) rs184450380
NM_000540.3(RYR1):c.13044G>A (p.Ala4348=) rs794727985
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.13565C>T (p.Pro4522Leu) rs145167688
NM_000540.3(RYR1):c.13680T>C (p.Phe4560=) rs377664510
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp) rs753208767
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.3(RYR1):c.14555A>G (p.Tyr4852Cys) rs886042826
NM_000540.3(RYR1):c.14672G>A (p.Gly4891Asp) rs398123470
NM_000540.3(RYR1):c.14680G>C (p.Ala4894Pro) rs193922888
NM_000540.3(RYR1):c.14731G>A (p.Glu4911Lys) rs886044196
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu) rs193922772
NM_000540.3(RYR1):c.4878C>T (p.Ala1626=) rs369466056
NM_000540.3(RYR1):c.5665GAG[2] (p.Glu1891del) rs559371263
NM_000540.3(RYR1):c.5736G>A (p.Glu1912=) rs753416949
NM_000540.3(RYR1):c.6150G>A (p.Glu2050=) rs727504131
NM_000540.3(RYR1):c.6904C>T (p.Leu2302=) rs886042146
NM_000540.3(RYR1):c.7463_7475del (p.Pro2488fs) rs794727683
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000540.3(RYR1):c.7584C>T (p.Pro2528=) rs1465698
NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG rs1555786205
NM_000543.5(SMPD1):c.107_124del (p.Val36_Leu41del) rs794726889
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5]) rs3838786
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_000543.5(SMPD1):c.354del (p.Ile119fs) rs727504165
NM_000543.5(SMPD1):c.567A>G (p.Lys189=) rs750187574
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000545.8(HNF1A):c.-167TGGGGGT[3] rs538476099
NM_000545.8(HNF1A):c.445A>G (p.Asn149Asp) rs1565883574
NM_000545.8(HNF1A):c.864del (p.Pro291fs) rs762703502
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.559+8G>A rs775915220
NM_000548.5(TSC2):c.1134G>A (p.Pro378=) rs754343186
NM_000548.5(TSC2):c.1258-10C>G rs794727093
NM_000548.5(TSC2):c.2167A>G (p.Ile723Val) rs764725850
NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln) rs45473098
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000548.5(TSC2):c.4216G>T (p.Asp1406Tyr) rs147719291
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.5001C>T (p.Asn1667=) rs551938797
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000551.4(VHL):c.449del (p.Asn150fs) rs794727253
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs) rs398123483
NM_000553.6(WRN):c.1518AGA[4] (p.Glu510del) rs781777438
NM_000557.5(GDF5):c.1299C>T (p.Cys433=) rs886042958
NM_000660.7(TGFB1):c.1010G>C (p.Ser337Thr) rs199699574
NM_000686.5(AGTR2):c.402del (p.Phe134fs) rs387906503
NM_000702.4(ATP1A2):c.246C>G (p.Pro82=) rs537472446
NM_000709.4(BCKDHA):c.114C>G (p.Pro38=) rs11549935
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly) rs398123498
NM_000719.7(CACNA1C):c.1218-6C>T rs727503833
NM_000719.7(CACNA1C):c.2234T>C (p.Leu745Pro) rs398123518
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_000744.7(CHRNA4):c.1209G>T (p.Pro403=) rs2229959
NM_000744.7(CHRNA4):c.681C>A (p.Ala227=) rs45588436
NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp) rs35873579
NM_000784.4(CYP27A1):c.1029G>T (p.Thr343=) rs771343931
NM_000784.4(CYP27A1):c.1102_1104delinsTTA (p.Val368Leu) rs886043512
NM_000784.4(CYP27A1):c.1371C>T (p.Thr457=) rs1177463640
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His) rs199638075
NM_000784.4(CYP27A1):c.1471G>A (p.Ala491Thr) rs72551323
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs) rs755532803
NM_000784.4(CYP27A1):c.693A>T (p.Arg231=) rs1187804477
NM_000843.4(GRM6):c.2610C>T (p.Gly870=) rs61731186
NM_000843.4(GRM6):c.727G>T (p.Val243Phe) rs17078894
NM_000875.5(IGF1R):c.3595G>A (p.Gly1199Arg) rs886044448
NM_000875.5(IGF1R):c.885G>T (p.Gly295=) rs56303650
NM_000883.4(IMPDH1):c.1362C>A (p.Thr454=) rs62481098
NM_000883.4(IMPDH1):c.1457TCT[1] (p.Phe487del) rs564828105
NM_000883.4(IMPDH1):c.66_72dup (p.Gln25fs) rs767123748
NM_000900.5(MGP):c.94+1G>A rs111320759
NM_000939.4(POMC):c.280AGCAGCGGC[3] (p.94SSG[3]) rs10654394
NM_001003841.3(SLC6A19):c.1296_1297del (p.Met432fs) rs762942358
NM_001004334.4(GPR179):c.4888G>C (p.Glu1630Gln) rs149998444
NM_001004334.4(GPR179):c.582C>A (p.Thr194=) rs756762102
NM_001005242.3(PKP2):c.1557-8dup rs200009796
NM_001008216.2(GALE):c.408C>A (p.Tyr136Ter) rs727503943
NM_001015877.2(PHF6):c.139-11_139-7del rs781657256
NM_001017995.3(SH3PXD2B):c.1063-7G>T rs186443822
NM_001017995.3(SH3PXD2B):c.1063-9_1063-8delinsCT rs797044638
NM_001017995.3(SH3PXD2B):c.1422G>A (p.Pro474=) rs199727236
NM_001017995.3(SH3PXD2B):c.1612GAGCGG[2] (p.538ER[2]) rs534091900
NM_001018113.3(FANCB):c.1105-26TATT[7] rs398123537
NM_001024630.4(RUNX2):c.172CAACAGCAGCAGCAGCAGCAG[1] (p.Gln65_Gln71del) rs774172072
NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del) rs11498192
NM_001025295.3(IFITM5):c.120G>A (p.Ser40=) rs79625057
NM_001029883.3(PCARE):c.2346A>G (p.Gln782=) rs181545106
NM_001029883.3(PCARE):c.2950C>A (p.Arg984=) rs774215025
NM_001029883.3(PCARE):c.3673_3675dupAGC
NM_001029883.3(PCARE):c.3813C>T (p.His1271=) rs369662857
NM_001029883.3(PCARE):c.537T>C (p.Pro179=) rs201965800
NM_001031679.3(MSRB3):c.-118del rs574256598
NM_001031710.3(KLHL7):c.975del (p.Lys325fs) rs794727909
NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu) rs398123695
NM_001032221.6(STXBP1):c.1548-7_1548-4del rs796053349
NM_001032221.6(STXBP1):c.87+1G>A rs796053350
NM_001032382.2(PQBP1):c.334_354del (p.Gly113_Arg119del) rs606231198
NM_001032382.2(PQBP1):c.393_413del (p.127GHDKSDR[1]) rs782547972
NM_001032382.2(PQBP1):c.450_453del (p.Asp150fs) rs886044823
NM_001033560.1(DNAAF4):c.523dup (p.Ile175Asnfs) rs751610886
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del) rs62653033
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT rs727504630
NM_001035.3(RYR2):c.3599-9del rs11331089
NM_001035.3(RYR2):c.385-9A>C rs140998248
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=) rs114534505
NM_001035.3(RYR2):c.6829T>C (p.Cys2277Arg) rs794727676
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=) rs371560909
NM_001037.5(SCN1B):c.347del (p.Ser116fs) rs794727487
NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp) rs55797039
NM_001039141.3(TRIOBP):c.1263T>C (p.Asn421=) rs566207993
NM_001039141.3(TRIOBP):c.3854_3855del (p.Arg1285fs) rs750744696
NM_001039141.3(TRIOBP):c.6472+13_6472+14insT rs541980281
NM_001039141.3(TRIOBP):c.6472+14G>T rs45503898
NM_001039141.3(TRIOBP):c.6472+15_6472+16insC rs149021782
NM_001039348.3(EFEMP1):c.*6del rs200536754
NM_001039348.3(EFEMP1):c.418C>T (p.Arg140Trp) rs756065296
NM_001039958.2(MESP2):c.552GGGGCA[1] (p.180QG[11]) rs56192595
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001040616.3(LINS1):c.304del (p.Arg102fs) rs760477654
NM_001042432.2(CLN3):c.537C>G (p.Ala179=) rs147667964
NM_001042472.3(ABHD12):c.405C>A (p.Asp135Glu) rs147070618
NM_001042472.3(ABHD12):c.788-10_788-7del rs565270893
NM_001048166.1(STIL):c.2070A>T (p.Ser690=) rs367887740
NM_001048166.1(STIL):c.873-6G>T rs375670720
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001048174.2(MUTYH):c.633A>G (p.Val211=) rs1557474374
NM_001077365.2(POMT1):c.1194C>G (p.Pro398=) rs371653610
NM_001077365.2(POMT1):c.123-5dup rs148086540
NM_001077365.2(POMT1):c.123-6_123-5dup rs148086540
NM_001077365.2(POMT1):c.1647G>A (p.Glu549=) rs757830349
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His) rs119462986
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter) rs138902646
NM_001077365.2(POMT1):c.57T>C (p.Leu19=) rs886043325
NM_001077365.2(POMT1):c.977A>G (p.Tyr326Cys) rs377372480
NM_001077525.3(MTMR14):c.1089C>T (p.Ile363=) rs769182078
NM_001079802.2(FKTN):c.*4388del rs148253503
NM_001079802.2(FKTN):c.-45G>T rs77013649
NM_001079802.2(FKTN):c.1179G>C (p.Leu393=) rs369117043
NM_001079802.2(FKTN):c.1270G>A (p.Gly424Ser) rs752358445
NM_001079802.2(FKTN):c.166-9C>T rs1361772036
NM_001079802.2(FKTN):c.330dup (p.Thr111fs) rs767865405
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001079802.2(FKTN):c.748T>C (p.Cys250Arg) rs398123558
NM_001079802.2(FKTN):c.766C>A (p.Arg256=) rs377417974
NM_001079866.2(BCS1L):c.349C>A (p.Arg117=) rs777735526
NM_001079872.2(CUL4B):c.1257-9dup rs746854249
NM_001080.3(ALDH5A1):c.102C>G (p.Ala34=) rs779034609
NM_001080.3(ALDH5A1):c.1323dup (p.Pro442fs) rs1561879345
NM_001080.3(ALDH5A1):c.709G>T (p.Ala237Ser) rs62621664
NM_001080414.4(CCDC88C):c.5695del (p.Leu1899fs) rs1396400378
NM_001082538.3(TCTN1):c.699TAA[1] (p.Asn235del) rs797046038
NM_001083614.2(EARS2):c.263_264delinsAA (p.Ala88Glu) rs1555504721
NM_001083961.2(WDR62):c.1233+15dup rs373693641
NM_001083961.2(WDR62):c.156C>G (p.Ser52=) rs398123559
NM_001083961.2(WDR62):c.1641G>T (p.Thr547=) rs2301734
NM_001083961.2(WDR62):c.1959-10A>C rs767989054
NM_001083961.2(WDR62):c.1987AAG[1] (p.Lys664del) rs764610550
NM_001083961.2(WDR62):c.2112G>C (p.Ser704=) rs115453534
NM_001083961.2(WDR62):c.2580C>T (p.Pro860=) rs886043531
NM_001083961.2(WDR62):c.3162G>A (p.Pro1054=) rs200232641
NM_001083961.2(WDR62):c.3271_3273del (p.His1091del) rs794727435
NM_001083961.2(WDR62):c.3641C>T (p.Thr1214Ile) rs752898108
NM_001083962.2(TCF4):c.1774G>A (p.Gly592Ser) rs751190049
NM_001083962.2(TCF4):c.594G>T (p.Ser198=) rs368553922
NM_001083962.2(TCF4):c.748C>T (p.Gln250Ter) rs727504175
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[16] (p.Pro945dup) rs750710267
NM_001100.4(ACTA1):c.442G>A (p.Gly148Ser) rs398123563
NM_001100.4(ACTA1):c.809-18dup rs398123565
NM_001100.4(ACTA1):c.809G>A (p.Gly270Asp) rs1553255362
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del) rs587777798
NM_001101426.4(CRPPA):c.184del (p.Val62fs) rs1048457038
NM_001101426.4(CRPPA):c.261A>G (p.Val87=) rs886044356
NM_001101426.4(CRPPA):c.360C>T (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.685-25GTT[6] rs142647500
NM_001101426.4(CRPPA):c.836-19dup rs3839757
NM_001110219.3(GJB6):c.111G>A (p.Val37=) rs543659673
NM_001110219.3(GJB6):c.689dup (p.Asn230fs) rs398124237
NM_001110556.2(FLNA):c.134A>G (p.Gln45Arg) rs398123613
NM_001110556.2(FLNA):c.2826+7A>G rs782545599
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) rs137853317
NM_001110556.2(FLNA):c.7092C>A (p.Ile2364=) rs782591917
NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys) rs28935470
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val) rs201314910
NM_001110792.2(MECP2):c.1200A>C (p.Pro400=) rs797044732
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) rs61753973
NM_001110792.2(MECP2):c.1351G>T (p.Ala451Ser) rs61753973
NM_001110792.2(MECP2):c.33AGG[6] (p.Gly16dup) rs587783744
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.564C>G (p.Pro188=) rs61754420
NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del) rs398123566
NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup) rs398123566
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001110792.2(MECP2):c.972C>T (p.Val324=) rs398124188
NM_001112704.2(VAX1):c.375G>C (p.Val125=) rs753533789
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[2] (p.152APVA[2]) rs565544512
NM_001122630.2(CDKN1C):c.522TCCGGC[2] (p.168AP[7]) rs878853632
NM_001122630.2(CDKN1C):c.573GGCCCC[2] (p.186AP[8]) rs759134767
NM_001122630.2(CDKN1C):c.573GGCCCC[3] (p.186AP[9]) rs759134767
NM_001122630.2(CDKN1C):c.573GGCCCC[5] (p.186AP[11]) rs759134767
NM_001127222.2(CACNA1A):c.2737_2739delinsTCT (p.Pro913Ser) rs886043758
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=) rs16021
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4]) rs764399373
NM_001127222.2(CACNA1A):c.3525A>C (p.Pro1175=) rs886044439
NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del) rs772989979
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127222.2(CACNA1A):c.4290G>T (p.Ala1430=) rs555959123
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr) rs1555736565
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=) rs757291476
NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup) rs759331923
NM_001127222.2(CACNA1A):c.6630CCA[6] (p.His2217_His2219del) rs759331923
NM_001127222.2(CACNA1A):c.6653_6658del (p.His2218_His2219del) rs774721955
NM_001127222.2(CACNA1A):c.6657delinsCCAC (p.His2219dup) rs1057518615
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup) rs768950814
NM_001127464.2(ZNF469):c.7554del (p.Ser2519Alafs) rs886039575
NM_001127644.2(GABRA1):c.1225C>T (p.Pro409Ser) rs139793542
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.640C>A (p.Arg214Ser) rs727503940
NM_001127644.2(GABRA1):c.851T>C (p.Val284Ala) rs794727962
NM_001127644.2(GABRA1):c.857-9del rs3214859
NM_001127644.2(GABRA1):c.857-9dup rs3214859
NM_001127649.3(PEX26):c.99G>C (p.Pro33=) rs1284941471
NM_001127671.2(LIFR):c.143-37GT[11] rs10637374
NM_001127671.2(LIFR):c.143-37GT[15] rs10637374
NM_001127671.2(LIFR):c.3288C>T (p.Asn1096=) rs3729751
NM_001128178.3(NPHP1):c.1530-10del rs779032904
NM_001128178.3(NPHP1):c.1950G>A (p.Leu650=) rs144850331
NM_001128178.3(NPHP1):c.415GAAGAG[1] (p.Glu141_Glu142del) rs777574728
NM_001128178.3(NPHP1):c.728+9G>A rs1280756117
NM_001128178.3(NPHP1):c.771+58C>A rs367600757
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) rs140574574
NM_001128228.3(TPRN):c.1845AGAGGA[3] (p.Glu620_Glu621dup) rs750560040
NM_001128228.3(TPRN):c.894G>A (p.Glu298=) rs539737661
NM_001130438.3(SPTAN1):c.1528G>A (p.Glu510Lys) rs769320860
NM_001130438.3(SPTAN1):c.3580-5_3580-2del rs754528571
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130987.2(DYSF):c.1033+4A>T rs1397221551
NM_001130987.2(DYSF):c.1116C>G (p.Ser372Arg) rs766891289
NM_001130987.2(DYSF):c.1260del (p.Glu421fs) rs1559079887
NM_001130987.2(DYSF):c.1371G>A (p.Ala457=) rs140667960
NM_001130987.2(DYSF):c.1518C>A (p.Ile506=) rs34387018
NM_001130987.2(DYSF):c.1722_1723insGTT (p.Leu574_Leu575insVal) rs1446214240
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) rs546679270
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.1944G>T (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.1985-2del rs774047700
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly) rs886042878
NM_001130987.2(DYSF):c.2421C>T (p.Ser807=) rs560856407
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys) rs727503910
NM_001130987.2(DYSF):c.2865-7_2865-5del rs761299898
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) rs756328339
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3]) rs398123779
NM_001130987.2(DYSF):c.3552G>A (p.Ala1184=) rs201319864
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met) rs148858485
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=) rs148858485
NM_001130987.2(DYSF):c.378G>T (p.Pro126=) rs377056951
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu) rs61742872
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn) rs141704244
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=) rs142301132
NM_001130987.2(DYSF):c.5060A>G (p.Tyr1687Cys) rs1553412643
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) rs34999029
NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[3] (p.2087ILFI[3]) rs749619435
NM_001130987.2(DYSF):c.6333del (p.Ala2111_Met2112insTer) rs886043884
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu) rs398123807
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp) rs121908963
NM_001134363.3(RBM20):c.3047G>C (p.Gly1016Ala) rs540014314
NM_001134363.3(RBM20):c.3331G>T (p.Val1111Leu) rs77110978
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr) rs753102653
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_001134831.2(AHI1):c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA rs786200964
NM_001142301.1(TMEM67):c.2522-6del rs747342409
NM_001142800.2(EYS):c.334G>A (p.Val112Ile) rs112609906
NM_001142800.2(EYS):c.9342TGT[1] (p.Val3116del) rs536788112
NM_001142800.2(EYS):c.9400del (p.Val3134fs) rs886042614
NM_001145809.2(MYH14):c.192G>T (p.Gly64=) rs181055215
NM_001145809.2(MYH14):c.660G>T (p.Ser220=) rs201835322
NM_001148.6(ANK2):c.7054_7059del (p.Gly2352_Gln2353del) rs774514148
NM_001159699.2(FHL1):c.261C>A (p.Cys87Ter) rs886044238
NM_001159699.2(FHL1):c.414G>C (p.Trp138Cys) rs1556639109
NM_001159699.2(FHL1):c.737-3del rs368428875
NM_001159699.2(FHL1):c.737-9del rs374867802
NM_001159699.2(FHL1):c.737-9dup rs374867802
NM_001159773.2(CANT1):c.1026C>T (p.His342=) rs755288092
NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del) rs572827902
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del) rs751901610
NM_001161352.2(KCNMA1):c.162_173del (p.Ser57_Ser60del) rs754606765
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del) rs1484259264
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup) rs760628050
NM_001164277.2(SLC37A4):c.1067G>C (p.Ser356Thr) rs547488738
NM_001164508.2(NEB):c.11077-5del rs749915004
NM_001164508.2(NEB):c.15237A>G (p.Leu5079=) rs1057522592
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3]) rs757726895
NM_001164508.2(NEB):c.15445A>T (p.Ser5149Cys) rs1057521769
NM_001164508.2(NEB):c.17635-3del rs3214503
NM_001164508.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn) rs796065338
NM_001164508.2(NEB):c.20467-4del rs10687343
NM_001164508.2(NEB):c.21546C>T (p.Asn7182=) rs149510427
NM_001164508.2(NEB):c.5971-6dup rs551520922
NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser) rs794726713
NM_001165963.4(SCN1A):c.1091G>T (p.Ser364Ile) rs752775574
NM_001165963.4(SCN1A):c.1092C>A (p.Ser364Arg) rs766332635
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001165963.4(SCN1A):c.135C>T (p.Asp45=) rs201985242
NM_001165963.4(SCN1A):c.2044-5dup rs549232924
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln) rs121918785
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys) rs121918788
NM_001165963.4(SCN1A):c.3817G>C (p.Ala1273Pro) rs398123592
NM_001165963.4(SCN1A):c.4339-5G>A rs1057522587
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln) rs121917995
NM_001165963.4(SCN1A):c.5563C>T (p.Pro1855Ser) rs794727415
NM_001165963.4(SCN1A):c.852T>C (p.Asn284=) rs748747434
NM_001170629.2(CHD8):c.2691G>A (p.Gln897=) rs1369694963
NM_001170629.2(CHD8):c.6447A>G (p.Gln2149=) rs370106194
NM_001173990.3(TMEM216):c.*6A>G rs541341560
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=) rs11230683
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) rs569734777
NM_001177316.2(SLC34A3):c.195_215del (p.Arg65_Gly71del) rs532224704
NM_001177316.2(SLC34A3):c.709G>A (p.Asp237Asn) rs145877051
NM_001177316.2(SLC34A3):c.837G>A (p.Thr279=) rs368153798
NM_001182.5(ALDH7A1):c.387A>C (p.Gly129=) rs1467521069
NM_001184.4(ATR):c.1358_1359del (p.His453fs) rs886044646
NM_001184.4(ATR):c.4153-21dup rs112116713
NM_001184880.2(PCDH19):c.1401G>T (p.Thr467=) rs794726896
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.2(PCDH19):c.3127A>T (p.Ile1043Phe) rs189342249
NM_001193315.2(VIPAS39):c.110G>A (p.Arg37Gln) rs537717904
NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs) rs141600901
NM_001195248.2(APTX):c.484-25_484-10del rs774597262
NM_001195248.2(APTX):c.484-25_484-3del rs779869639
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195248.2(APTX):c.484-3del rs373304582
NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del) rs555444131
NM_001195263.2(PDZD7):c.1752T>C (p.Tyr584=) rs368563439
NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3]) rs397516634
NM_001195553.2(DCX):c.772C>T (p.Arg258Cys) rs727503897
NM_001197104.2(KMT2A):c.10580G>A (p.Arg3527Gln) rs147844226
NM_001199397.3(NEK1):c.1081-8dup rs398124255
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs) rs763941231
NM_001206979.2(NR1H4):c.750C>T (p.Thr250=) rs1322754256
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup) rs72554069
NM_001244008.2(KIF1A):c.2721GGA[12] (p.Glu917dup) rs10594016
NM_001244008.2(KIF1A):c.3072C>T (p.Ser1024=) rs73102625
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_001252024.2(TRPM1):c.2149G>C (p.Ala717Pro) rs138944426
NM_001252024.2(TRPM1):c.4330C>T (p.Arg1444Cys) rs3784587
NM_001256789.3(CACNA1F):c.2387-19del rs375791434
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[2] (p.Glu812_Glu814del) rs59355923
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[4] (p.Glu812_Glu814dup) rs59355923
NM_001256789.3(CACNA1F):c.4180G>A (p.Gly1394Ser) rs35212576
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His) rs189626540
NM_001267550.2(TTN):c.100766-10dup rs749872538
NM_001267550.2(TTN):c.100766-11_100766-10del rs749872538
NM_001267550.2(TTN):c.100980G>A (p.Glu33660=) rs727503536
NM_001267550.2(TTN):c.101291C>T (p.Ala33764Val) rs773542514
NM_001267550.2(TTN):c.101532A>G (p.Thr33844=) rs776839796
NM_001267550.2(TTN):c.102885T>C (p.Gly34295=) rs886039175
NM_001267550.2(TTN):c.103113T>C (p.Asn34371=) rs886042668
NM_001267550.2(TTN):c.103246T>C (p.Leu34416=) rs1553492053
NM_001267550.2(TTN):c.103365C>T (p.Arg34455=) rs398124462
NM_001267550.2(TTN):c.103514A>T (p.Glu34505Val) rs761105256
NM_001267550.2(TTN):c.105428del (p.Gly35143fs) rs886042825
NM_001267550.2(TTN):c.105485G>A (p.Trp35162Ter) rs886042795
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615
NM_001267550.2(TTN):c.107163_107167del (p.Phe35721fs) rs794727544
NM_001267550.2(TTN):c.107301C>A (p.Ser35767Arg) rs1558965303
NM_001267550.2(TTN):c.107647T>G (p.Ser35883Ala) rs1553477432
NM_001267550.2(TTN):c.12307T>C (p.Leu4103=) rs587780988
NM_001267550.2(TTN):c.12517G>T (p.Glu4173Ter) rs1131691288
NM_001267550.2(TTN):c.12780G>T (p.Ala4260=) rs746578
NM_001267550.2(TTN):c.12813C>T (p.His4271=) rs373302409
NM_001267550.2(TTN):c.13194A>G (p.Gln4398=) rs375347596
NM_001267550.2(TTN):c.1398+4C>T rs368548209
NM_001267550.2(TTN):c.14212C>A (p.Arg4738=) rs1311308523
NM_001267550.2(TTN):c.14784C>A (p.Leu4928=) rs373875040
NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr) rs201744218
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.16964T>C (p.Met5655Thr) rs886044306
NM_001267550.2(TTN):c.177C>A (p.Ser59Arg) rs191057824
NM_001267550.2(TTN):c.177C>T (p.Ser59=) rs191057824
NM_001267550.2(TTN):c.21489C>G (p.Thr7163=) rs376882041
NM_001267550.2(TTN):c.2218C>A (p.Arg740Ser) rs566299753
NM_001267550.2(TTN):c.2283_2288del (p.Lys762_Ala763del) rs727503701
NM_001267550.2(TTN):c.23023G>T (p.Asp7675Tyr) rs552951988
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) rs149523263
NM_001267550.2(TTN):c.23853C>A (p.Ala7951=) rs201766927
NM_001267550.2(TTN):c.2396C>T (p.Thr799Met) rs149061352
NM_001267550.2(TTN):c.24156A>G (p.Thr8052=) rs749823104
NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser) rs200972189
NM_001267550.2(TTN):c.26762-10_26762-9insTTGTTTTGTA rs1553893826
NM_001267550.2(TTN):c.26762-39TTTGT[10] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[11] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[5] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[7] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[8] rs71393436
NM_001267550.2(TTN):c.26991A>C (p.Thr8997=) rs61232800
NM_001267550.2(TTN):c.28754A>G (p.Glu9585Gly) rs200856239
NM_001267550.2(TTN):c.29144C>T (p.Ala9715Val) rs533172128
NM_001267550.2(TTN):c.29938G>A (p.Ala9980Thr) rs189286381
NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg) rs148269839
NM_001267550.2(TTN):c.30683-17dup rs368277751
NM_001267550.2(TTN):c.30683-18_30683-9del rs775388232
NM_001267550.2(TTN):c.30713A>G (p.Lys10238Arg) rs780073797
NM_001267550.2(TTN):c.31505C>T (p.Ser10502Leu) rs768632287
NM_001267550.2(TTN):c.31762+5_31762+7del rs397517538
NM_001267550.2(TTN):c.31846+1G>A rs794727043
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_001267550.2(TTN):c.32554+5_32554+6del rs771419718
NM_001267550.2(TTN):c.32703G>A (p.Glu10901=) rs397517542
NM_001267550.2(TTN):c.32970_32987del (p.10987_10989EEY[1]) rs766756026
NM_001267550.2(TTN):c.33501AGA[4] (p.Glu11172del) rs368327166
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.34092A>T (p.Leu11364=) rs765888527
NM_001267550.2(TTN):c.34140A>G (p.Glu11380=) rs147418835
NM_001267550.2(TTN):c.34660GAA[1] (p.Glu11555del) rs763098227
NM_001267550.2(TTN):c.34708+9G>T rs397517551
NM_001267550.2(TTN):c.35199A>G (p.Val11733=) rs1560255134
NM_001267550.2(TTN):c.36708A>T (p.Glu12236Asp) rs796478043
NM_001267550.2(TTN):c.37421T>C (p.Ile12474Thr) rs72650057
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg) rs72650066
NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1]) rs139512154
NM_001267550.2(TTN):c.40408+3dup rs727504922
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001267550.2(TTN):c.40537del (p.Glu13513fs) rs1553756349
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del) rs727504199
NM_001267550.2(TTN):c.40595T>C (p.Val13532Ala) rs756446770
NM_001267550.2(TTN):c.40788A>G (p.Glu13596=) rs886042511
NM_001267550.2(TTN):c.41178C>T (p.Ile13726=) rs1559992784
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter) rs869312043
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.43502C>G (p.Thr14501Ser) rs115825044
NM_001267550.2(TTN):c.43987A>C (p.Lys14663Gln) rs1271800091
NM_001267550.2(TTN):c.44210G>A (p.Arg14737His) rs373298007
NM_001267550.2(TTN):c.45053C>T (p.Ala15018Val) rs72677221
NM_001267550.2(TTN):c.45120T>G (p.Ile15040Met) rs74580375
NM_001267550.2(TTN):c.45748A>T (p.Ser15250Cys) rs776190494
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn) rs397517583
NM_001267550.2(TTN):c.46823T>C (p.Leu15608Ser) rs397517588
NM_001267550.2(TTN):c.46848G>T (p.Thr15616=) rs766610061
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.48330T>C (p.Thr16110=) rs557105262
NM_001267550.2(TTN):c.51273G>A (p.Arg17091=) rs532589236
NM_001267550.2(TTN):c.5196A>C (p.Pro1732=) rs142262519
NM_001267550.2(TTN):c.51991G>C (p.Glu17331Gln) rs547986881
NM_001267550.2(TTN):c.52152C>T (p.Thr17384=) rs1004455055
NM_001267550.2(TTN):c.52290T>C (p.Tyr17430=) rs990974705
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val) rs886042743
NM_001267550.2(TTN):c.53185C>T (p.Leu17729=) rs767559716
NM_001267550.2(TTN):c.5577G>A (p.Arg1859=) rs551538420
NM_001267550.2(TTN):c.57360T>A (p.Pro19120=) rs778995340
NM_001267550.2(TTN):c.5739C>T (p.Thr1913=) rs530291008
NM_001267550.2(TTN):c.57478G>A (p.Val19160Ile) rs200778464
NM_001267550.2(TTN):c.58205A>G (p.Glu19402Gly) rs886042539
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del) rs771898264
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs) rs886039027
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.62931AGA[1] (p.Glu20979del) rs727505236
NM_001267550.2(TTN):c.64680dup (p.Gly21561fs) rs794729330
NM_001267550.2(TTN):c.64683C>G (p.Gly21561=) rs542156552
NM_001267550.2(TTN):c.66385C>T (p.Arg22129Cys) rs763729258
NM_001267550.2(TTN):c.66576C>A (p.Leu22192=) rs187378247
NM_001267550.2(TTN):c.68328A>G (p.Thr22776=) rs1553619783
NM_001267550.2(TTN):c.68604C>T (p.Asp22868=) rs750368181
NM_001267550.2(TTN):c.69876A>C (p.Thr23292=) rs1267766480
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu) rs372799151
NM_001267550.2(TTN):c.69903C>T (p.Phe23301=) rs372799151
NM_001267550.2(TTN):c.70026T>C (p.Pro23342=) rs878983731
NM_001267550.2(TTN):c.70137C>A (p.Thr23379=) rs770349910
NM_001267550.2(TTN):c.7020C>T (p.Ile2340=) rs587780986
NM_001267550.2(TTN):c.71832A>C (p.Lys23944Asn) rs1449315408
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=) rs72646894
NM_001267550.2(TTN):c.72174T>C (p.Pro24058=) rs886042700
NM_001267550.2(TTN):c.72716T>A (p.Met24239Lys) rs750298083
NM_001267550.2(TTN):c.74059_74060delinsCA (p.Phe24687His) rs1559409373
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del) rs543318580
NM_001267550.2(TTN):c.76383TAA[1] (p.Asn25462del) rs749648136
NM_001267550.2(TTN):c.76739C>T (p.Thr25580Met) rs56372592
NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln) rs368038362
NM_001267550.2(TTN):c.78068T>C (p.Ile26023Thr) rs572384303
NM_001267550.2(TTN):c.79519_79520delinsAA (p.Ala26507Asn) rs886044012
NM_001267550.2(TTN):c.79883G>A (p.Arg26628Gln) rs201091376
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter) rs869038795
NM_001267550.2(TTN):c.8184C>G (p.Val2728=) rs753356474
NM_001267550.2(TTN):c.82036C>T (p.Gln27346Ter) rs886042331
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys) rs201489661
NM_001267550.2(TTN):c.82385C>T (p.Thr27462Met) rs55933739
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001267550.2(TTN):c.83526T>G (p.Ala27842=) rs539533062
NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr) rs397517731
NM_001267550.2(TTN):c.85722C>T (p.Pro28574=) rs763685410
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met) rs201290358
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del) rs727504797
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001267550.2(TTN):c.89240C>G (p.Thr29747Ser) rs370568740
NM_001267550.2(TTN):c.89457A>G (p.Gly29819=) rs1553542686
NM_001267550.2(TTN):c.90594T>C (p.His30198=) rs765307374
NM_001267550.2(TTN):c.90758GAG[2] (p.Gly30255del) rs748912340
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys) rs11887722
NM_001267550.2(TTN):c.91071T>G (p.Thr30357=) rs11897366
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=) rs202185465
NM_001267550.2(TTN):c.91884A>G (p.Arg30628=) rs144922355
NM_001267550.2(TTN):c.9220C>T (p.Arg3074Ter) rs780706937
NM_001267550.2(TTN):c.92871T>C (p.Ala30957=) rs748822553
NM_001267550.2(TTN):c.93129C>T (p.Asp31043=) rs758336721
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer) rs886044536
NM_001267550.2(TTN):c.94282C>A (p.Arg31428Ser) rs190282707
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg) rs869320739
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys) rs869320742
NM_001267550.2(TTN):c.95372G>A (p.Gly31791Asp) rs869320744
NM_001267550.2(TTN):c.95598C>T (p.Thr31866=) rs1553520323
NM_001267550.2(TTN):c.95649G>A (p.Val31883=) rs1553520236
NM_001267550.2(TTN):c.9618T>C (p.Phe3206=) rs878971586
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) rs200540781
NM_001267550.2(TTN):c.9714G>A (p.Pro3238=) rs886042397
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_001267550.2(TTN):c.98721C>A (p.Leu32907=) rs375361462
NM_001267550.2(TTN):c.98721C>T (p.Leu32907=) rs375361462
NM_001267550.2(TTN):c.98893G>C (p.Asp32965His) rs186405108
NM_001267550.2(TTN):c.98919C>T (p.Ile32973=) rs776133124
NM_001267550.2(TTN):c.99567C>T (p.Leu33189=) rs745708104
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys) rs775769503
NM_001272071.2(AP1S2):c.252T>C (p.His84=) rs727503807
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) rs74315379
NM_001276345.2(TNNT2):c.53-11_53-7del rs45533739
NM_001277115.2(DNAH11):c.11691-20dup rs5882827
NM_001278116.2(L1CAM):c.2137+5_2137+6insGGCAGGTGT rs398123361
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=) rs797044787
NM_001278182.2(EOMES):c.358_359insGCGCCG (p.Ala119_Ala120insGlyAla) rs1553745484
NM_001278182.2(EOMES):c.360CGC[8] (p.Ala130dup) rs3062761
NM_001278431.2(C1QTNF5):c.583dup (p.Ala195fs) rs369839371
NM_001278512.2(AP3B2):c.3235_3238del (p.Thr1079fs) rs756807665
NM_001289104.2(PRKCSH):c.939GGA[9] (p.Glu325del) rs3217229
NM_001291415.2(KDM6A):c.2859-5del rs10605935
NM_001291415.2(KDM6A):c.2859-6_2859-5del rs10605935
NM_001291415.2(KDM6A):c.42CGC[4] (p.Ala17dup) rs797044622
NM_001291867.2(NHS):c.207GCC[3] (p.Pro73del) rs10590816
NM_001291867.2(NHS):c.4428_4430dup (p.Ser1480dup) rs398124609
NM_001291867.2(NHS):c.566-10dup rs5901624
NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del) rs753906203
NM_001292063.2(OTOG):c.6667G>A (p.Val2223Met) rs572886375
NM_001297.5(CNGB1):c.1089GGA[6] (p.Glu371dup) rs141566950
NM_001297.5(CNGB1):c.49C>T (p.Arg17Trp) rs200694933
NM_001298.3(CNGA3):c.1597G>C (p.Asp533His) rs775332304
NM_001298.3(CNGA3):c.1712T>C (p.Ile571Thr) rs750456621
NM_001319074.4(RAX2):c.344C>A (p.Ser115Ter) rs398124431
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715
NM_001329943.3(KIAA0586):c.64C>T (p.Arg22Cys) rs202124602
NM_001330078.2(NRXN1):c.1843C>T (p.Leu615=) rs201029409
NM_001330078.2(NRXN1):c.2507C>T (p.Ala836Val) rs199557987
NM_001330078.2(NRXN1):c.3499C>T (p.Arg1167Ter) rs199546979
NM_001330260.2(SCN8A):c.1846GGCTACAGC[1] (p.616GYS[1]) rs758276968
NM_001330260.2(SCN8A):c.2287A>G (p.Ile763Val) rs794727128
NM_001330260.2(SCN8A):c.3060G>A (p.Gln1020=) rs528718802
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001330260.2(SCN8A):c.5943GAG[1] (p.Ter1981=) rs555793953
NM_001348946.2(ABCB1):c.2677T>A (p.Ser893Thr) rs2032582
NM_001348946.2(ABCB1):c.2677T>G (p.Ser893Ala) rs2032582
NM_001349338.3(FOXP1):c.1146+10_1146+12del rs199543140
NM_001349338.3(FOXP1):c.1652+5G>A rs794727216
NM_001351132.2(PEX5):c.135G>C (p.Pro45=) rs761885230
NM_001351132.2(PEX5):c.449-2A>G rs1555176945
NM_001351132.2(PEX5):c.48G>A (p.Pro16=) rs147958315
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
NM_001354604.2(MITF):c.639C>T (p.Asn213=) rs137944487
NM_001360.3(DHCR7):c.1273G>A (p.Gly425Ser) rs760242
NM_001360.3(DHCR7):c.1384T>C (p.Tyr462His) rs201270451
NM_001360.3(DHCR7):c.385_412+5del rs746482788
NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser) rs146867923
NM_001360.3(DHCR7):c.902A>G (p.His301Arg) rs1565586067
NM_001360.3(DHCR7):c.906C>T (p.Phe302=) rs80338858
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys) rs367585401
NM_001360016.2(G6PD):c.1288-14TC[2] rs199586268
NM_001360016.2(G6PD):c.1311= (p.Tyr437=) rs2230037
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del) rs782576893
NM_001364905.1(LRBA):c.3789C>T (p.Asn1263=) rs150689413
NM_001365276.2(TNXB):c.1259T>C (p.Val420Ala) rs200226242
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001365536.1(SCN9A):c.1975-3del rs35888674
NM_001365951.3(KIF1B):c.3079C>T (p.Arg1027Ter) rs886042662
NM_001365951.3(KIF1B):c.430-9del rs771477893
NM_001367624.2(ZNF469):c.10326G>C (p.Arg3442Ser) rs56236932
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala) rs532620482
NM_001367624.2(ZNF469):c.5340C>G (p.Pro1780=) rs184374078
NM_001367624.2(ZNF469):c.6444del (p.Gln2149fs) rs886044697
NM_001367624.2(ZNF469):c.725_726delinsTT (p.Ser242Ile) rs886043704
NM_001367721.1(CASK):c.1215A>G (p.Ala405=) rs1555989329
NM_001367721.1(CASK):c.1224A>G (p.Arg408=) rs1555989321
NM_001367721.1(CASK):c.55G>A (p.Gly19Arg) rs727503840
NM_001367721.1(CASK):c.891A>G (p.Lys297=) rs544979992
NM_001367916.1(MAGT1):c.16C>T (p.Arg6Trp) rs140854076
NM_001368397.1(FRMPD4):c.3937C>A (p.Arg1313=) rs41303149
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) rs121907922
NM_001368894.2(PAX6):c.192C>A (p.Asn64Lys) rs727504064
NM_001368894.2(PAX6):c.52G>C (p.Gly18Arg) rs886044289
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp) rs757259413
NM_001369268.1(ACAN):c.280_336del (p.Val94_Ile112del) rs1596130811
NM_001369268.1(ACAN):c.7512T>G (p.Tyr2504Ter) rs1567195445
NM_001370259.2(MEN1):c.655-6C>T rs77461664
NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr) rs144693221
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr) rs397514380
NM_001371596.2(MFSD8):c.1351-9C>A rs75039907
NM_001371596.2(MFSD8):c.63-4del rs755011754
NM_001371623.1(TCOF1):c.827_844del (p.Gly276_Glu281del) rs528897827
NM_001371986.1(UNC80):c.8698del (p.Trp2900fs) rs886043644
NM_001372044.2(SHANK3):c.1530-280dup rs745950788
NM_001374353.1(GLI2):c.3418C>T (p.Leu1140=) rs141988240
NM_001374385.1(ATP8B1):c.182-5dup rs34583775
NM_001374385.1(ATP8B1):c.2209+10T>C rs1555689635
NM_001374385.1(ATP8B1):c.306C>T (p.Tyr102=) rs1555693515
NM_001374385.1(ATP8B1):c.3636G>A (p.Ser1212=) rs748084795
NM_001374385.1(ATP8B1):c.921C>T (p.His307=) rs747429748
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln) rs713993043
NM_001376.5(DYNC1H1):c.9142G>A (p.Glu3048Lys) rs1555410941
NM_001376256.1(CRYM):c.523_524delinsTT (p.Glu175Leu) rs386789728
NM_001377.3(DYNC2H1):c.12581C>T (p.Ser4194Phe) rs886042136
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile) rs116207524
NM_001378120.1(MBD5):c.3603G>T (p.Ser1201=) rs138058889
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly) rs115444326
NM_001378454.1(ALMS1):c.36GGA[10] (p.Glu26_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36_74= (p.Leu12_Glu25=) rs55889738
NM_001378454.1(ALMS1):c.4843T>G (p.Leu1615Val) rs375736124
NM_001378454.1(ALMS1):c.6211A>G (p.Ile2071Val) rs1020163869
NM_001378454.1(ALMS1):c.6960G>A (p.Gln2320=) rs794727925
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001378615.1(CC2D2A):c.2182-9_2182-8delinsAA rs1560177950
NM_001378615.1(CC2D2A):c.2922+10dup rs752271495
NM_001378615.1(CC2D2A):c.3145C>A (p.Arg1049=) rs386833750
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001378615.1(CC2D2A):c.4728C>T (p.Asp1576=) rs774919996
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001379081.2(FREM1):c.4941C>A (p.Tyr1647Ter) rs373880888
NM_001379110.1(SLC9A6):c.*5_*8delinsTT rs797044655
NM_001379270.1(CNGA1):c.1617C>G (p.Tyr539Ter) rs1560616550
NM_001384140.1(PCDH15):c.189A>G (p.Lys63=) rs1554940478
NM_001384140.1(PCDH15):c.2277T>C (p.Phe759=) rs1565043296
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_001384140.1(PCDH15):c.3699C>T (p.Ser1233=) rs774857947
NM_001384140.1(PCDH15):c.4308GCC[6] (p.Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4320_4328dup (p.Pro1441_Pro1443dup) rs776051221
NM_001384140.1(PCDH15):c.4651GAA[1] (p.Glu1552del) rs561144747
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs) rs1555683951
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro) rs745683775
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup) rs759237437
NM_001384474.1(LOXHD1):c.4148C>G (p.Thr1383Arg) rs7244681
NM_001384474.1(LOXHD1):c.5712C>T (p.Asn1904=) rs746023380
NM_001384474.1(LOXHD1):c.710A>G (p.Asn237Ser) rs539278802
NM_001384732.1(CPLANE1):c.1372-2A>G rs886043786
NM_001384732.1(CPLANE1):c.8633-3del rs34646696
NM_001384910.1(GUCA1A):c.526C>T (p.Leu176Phe) rs794727777
NM_001385.3(DPYS):c.1506del (p.Arg503fs) rs79080341
NM_001386140.1(MTTP):c.1715A>G (p.Asn572Ser) rs772602972
NM_001429.4(EP300):c.3143-4dup rs757931697
NM_001429.4(EP300):c.3354C>T (p.Val1118=) rs11704815
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001453.3(FOXC1):c.1338CGG[5] (p.Gly454_Gly456del) rs398123612
NM_001453.3(FOXC1):c.1338CGG[7] (p.Gly456del) rs398123612
NM_001453.3(FOXC1):c.1464GGC[4] (p.Ala494_Ala495del) rs747574884
NM_001453.3(FOXC1):c.83CGGCGGCCG[1] (p.Ala31_Ala33del) rs756196843
NM_001457.4(FLNB):c.2773G>T (p.Gly925Cys) rs139875974
NM_001457.4(FLNB):c.3163G>T (p.Val1055Leu) rs9813235
NM_001457.4(FLNB):c.4515-24GT[4] rs151085835
NM_001457.4(FLNB):c.5967C>T (p.Pro1989=) rs374686904
NM_001457.4(FLNB):c.6367+7G>C rs201871482
NM_001458.5(FLNC):c.3489G>C (p.Pro1163=) rs369853278
NM_001458.5(FLNC):c.5042C>G (p.Thr1681Arg) rs193159707
NM_001497.4(B4GALT1):c.412+44dup rs111399879
NM_001614.5(ACTG1):c.542C>T (p.Ala181Val) rs797044730
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_001701.4(BAAT):c.602G>A (p.Arg201His) rs41281027
NM_001701.4(BAAT):c.9G>A (p.Gln3=) rs149369902
NM_001723.7(DST):c.22del (p.Tyr8fs) rs775912185
NM_001793.6(CDH3):c.2430C>T (p.Asn810=) rs774229703
NM_001844.5(COL2A1):c.1077C>T (p.Val359=) rs202002349
NM_001844.5(COL2A1):c.1266+5G>A rs1064794958
NM_001844.5(COL2A1):c.1340G>A (p.Gly447Asp) rs886043561
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001844.5(COL2A1):c.2159G>A (p.Gly720Asp) rs1555166528
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=) rs41272029
NM_001844.5(COL2A1):c.3222C>A (p.Gly1074=) rs746453469
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_001844.5(COL2A1):c.3886G>C (p.Gly1296Arg) rs546672421
NM_001844.5(COL2A1):c.4414G>C (p.Gly1472Arg) rs763352763
NM_001844.5(COL2A1):c.4453T>C (p.Cys1485Arg) rs1565664095
NM_001844.5(COL2A1):c.644C>A (p.Ala215Glu) rs766480693
NM_001844.5(COL2A1):c.870+5G>A rs794727095
NM_001848.3(COL6A1):c.1002+50C>A rs11702079
NM_001848.3(COL6A1):c.1013G>A (p.Gly338Glu) rs794727121
NM_001848.3(COL6A1):c.1120-12G>A rs115107397
NM_001848.3(COL6A1):c.1425del (p.Gly476fs) rs878854398
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg) rs764556767
NM_001848.3(COL6A1):c.1814-6C>G rs182804464
NM_001848.3(COL6A1):c.1845CCT[1] (p.Leu617del) rs1085307560
NM_001848.3(COL6A1):c.1959C>T (p.Phe653=) rs112104768
NM_001848.3(COL6A1):c.2220G>T (p.Pro740=) rs138976133
NM_001848.3(COL6A1):c.2435-2A>G rs940473416
NM_001848.3(COL6A1):c.2783G>A (p.Arg928His) rs144671871
NM_001848.3(COL6A1):c.428+39C>G rs148766287
NM_001848.3(COL6A1):c.588+19dup rs111710378
NM_001848.3(COL6A1):c.788G>A (p.Gly263Asp) rs886043351
NM_001848.3(COL6A1):c.814G>A (p.Gly272Ser) rs398123640
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001848.3(COL6A1):c.904-2A>G rs1057519174
NM_001848.3(COL6A1):c.904G>A (p.Gly302Arg) rs794727028
NM_001848.3(COL6A1):c.930+1G>A rs886042902
NM_001848.3(COL6A1):c.932G>A (p.Gly311Asp) rs886044231
NM_001848.3(COL6A1):c.956A>G (p.Lys319Arg) rs794727059
NM_001849.3(COL6A2):c.2312dup (p.Asn771Lysfs) rs886043164
NM_001849.4(COL6A2):c.1117-9C>T rs1057523383
NM_001849.4(COL6A2):c.1251C>T (p.Arg417=) rs61735827
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn) rs535007570
NM_001849.4(COL6A2):c.1458+1G>A rs886044526
NM_001849.4(COL6A2):c.1561C>T (p.Arg521Ter) rs773686174
NM_001849.4(COL6A2):c.1572+3G>A rs372414400
NM_001849.4(COL6A2):c.1651AAAGGAGAG[1] (p.551KGE[1]) rs773493556
NM_001849.4(COL6A2):c.176T>C (p.Met59Thr) rs886043225
NM_001849.4(COL6A2):c.1770+1del rs886044215
NM_001849.4(COL6A2):c.1816+18del rs150275851
NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn) rs267606750
NM_001849.4(COL6A2):c.2422+7G>A rs773282809
NM_001849.4(COL6A2):c.2422+7G>T rs773282809
NM_001849.4(COL6A2):c.2593_2608dup (p.Asp870fs) rs1555877258
NM_001849.4(COL6A2):c.2605G>A (p.Asp869Asn) rs141021828
NM_001849.4(COL6A2):c.2697G>C (p.Thr899=) rs11554669
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=) rs11554669
NM_001849.4(COL6A2):c.2741_2743del (p.Phe914del) rs746930351
NM_001849.4(COL6A2):c.2748C>A (p.His916Gln) rs372206114
NM_001849.4(COL6A2):c.2871G>A (p.Leu957=) rs548194162
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro) rs201854898
NM_001849.4(COL6A2):c.3058T>C (p.Ter1020Gln) rs886044576
NM_001849.4(COL6A2):c.803G>A (p.Gly268Asp) rs397515333
NM_001849.4(COL6A2):c.848G>A (p.Gly283Glu) rs886044088
NM_001851.6(COL9A1):c.1342-11_1342-3del rs774856588
NM_001851.6(COL9A1):c.2076A>G (p.Glu692=) rs557157592
NM_001851.6(COL9A1):c.56C>T (p.Pro19Leu) rs146700420
NM_001853.4(COL9A3):c.685-4G>T rs57739618
NM_001853.4(COL9A3):c.93CGGCCCCCC[1] (p.33PPG[2]) rs544133282
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile) rs141817156
NM_001854.4(COL11A1):c.1201T>C (p.Phe401Leu) rs141817156
NM_001854.4(COL11A1):c.1792-39ATG[11] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[13] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[9] rs71752747
NM_001854.4(COL11A1):c.2976T>C (p.Pro992=) rs368868551
NM_001854.4(COL11A1):c.4554+1G>C rs886044244
NM_001854.4(COL11A1):c.652-6dup rs36076089
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala) rs386654705
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001876.4(CPT1A):c.100T>C (p.Ser34Pro) rs398123653
NM_001918.5(DBT):c.1210-10del rs398123658
NM_001918.5(DBT):c.1210-10dup rs398123658
NM_001918.5(DBT):c.251+19dup rs201469612
NM_001927.4(DES):c.114G>A (p.Ala38=) rs368901105
NM_001927.4(DES):c.1346A>C (p.Lys449Thr) rs267607485
NM_001927.4(DES):c.1353C>G (p.Ile451Met) rs121913002
NM_001927.4(DES):c.1353C>T (p.Ile451=) rs121913002
NM_001927.4(DES):c.1358C>T (p.Thr453Ile) rs267607488
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.1372-3dup rs876657769
NM_001927.4(DES):c.1404A>G (p.Glu468=) rs397516691
NM_001927.4(DES):c.210G>C (p.Arg70=) rs761255472
NM_001927.4(DES):c.35C>T (p.Ser12Phe) rs267607495
NM_001927.4(DES):c.404C>T (p.Ala135Val) rs546741834
NM_001927.4(DES):c.735G>A (p.Glu245=) rs267607486
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001966.4(EHHADH):c.411G>A (p.Gln137=) rs148984368
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His) rs142185964
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002025.4(AFF2):c.2181C>T (p.Thr727=) rs143927826
NM_002047.4(GARS1):c.1614-4G>C rs376324026
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe) rs1554337974
NM_002074.5(GNB1):c.346G>A (p.Gly116Ser) rs1231842600
NM_002098.6(GUCA1B):c.297G>A (p.Lys99=) rs794727264
NM_002181.4(IHH):c.228_229delinsAA (p.Arg77Ser) rs886043368
NM_002181.4(IHH):c.949G>A (p.Val317Met) rs886044074
NM_002206.3(ITGA7):c.1410-3del rs773251917
NM_002206.3(ITGA7):c.2295C>T (p.Ile765=) rs181711509
NM_002206.3(ITGA7):c.671-5C>A rs180841797
NM_002225.5(IVD):c.1179del (p.Leu394fs) rs786204613
NM_002225.5(IVD):c.863C>T (p.Ala288Val) rs886042098
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_002234.4(KCNA5):c.859_860delinsTT (p.Ala287Leu) rs1565465582
NM_002242.4(KCNJ13):c.558T>C (p.Asn186=) rs886043769
NM_002303.6(LEPR):c.1968G>C (p.Lys656Asn) rs1805094
NM_002335.4(LRP5):c.-19del rs763941232
NM_002335.4(LRP5):c.34CTG[11] (p.Leu19_Leu20dup) rs72555376
NM_002335.4(LRP5):c.34CTG[6] (p.Leu18_Leu20del) rs72555376
NM_002335.4(LRP5):c.34CTG[7] (p.Leu19_Leu20del) rs72555376
NM_002335.4(LRP5):c.34CTG[8] (p.Leu20del) rs72555376
NM_002335.4(LRP5):c.3552C>A (p.Thr1184=) rs764663599
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=) rs72610640
NM_002381.5(MATN3):c.132C>T (p.Pro44=) rs886043710
NM_002381.5(MATN3):c.90C>G (p.Pro30=) rs996766896
NM_002427.4(MMP13):c.287_293del (p.Cys96fs) rs886042854
NM_002427.4(MMP13):c.772dup (p.Asp258fs) rs797044754
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter) rs147334255
NM_002435.3(MPI):c.678C>A (p.Ala226=) rs199972529
NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del) rs267607264
NM_002437.5(MPV17):c.275A>C (p.Asp92Ala) rs1057524366
NM_002437.5(MPV17):c.279+9_279+11del rs751559319
NM_002437.5(MPV17):c.450C>T (p.Pro150=) rs1244633595
NM_002471.4(MYH6):c.1131C>G (p.Asp377Glu) rs61742472
NM_002471.4(MYH6):c.3979-8C>T rs555976716
NM_002472.3(MYH8):c.3254+1G>T rs372740784
NM_002473.6(MYH9):c.5275-10del rs552643559
NM_002474.3(MYH11):c.3651+5T>G rs794727439
NM_002474.3(MYH11):c.5787-4733CT[3] rs747642850
NM_002474.3(MYH11):c.5796C>T (p.Asn1932=) rs149529195
NM_002485.5(NBN):c.1846-11_1846-7del rs1060504925
NM_002547.3(OPHN1):c.360G>A (p.Arg120=) rs727504062
NM_002617.4(PEX10):c.333C>T (p.Leu111=) rs781710848
NM_002693.3(POLG):c.119GGC[4] (p.Arg42dup) rs761080016
NM_002693.3(POLG):c.125_139del (p.Arg42_Gln46del) rs780010436
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[4] (p.Gln49_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[5] (p.Gln50_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[6] (p.Gln51_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[7] (p.Gln52_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del) rs41550117
NM_002693.3(POLG):c.155_166del (p.Gln52_Gln55del) rs761909257
NM_002693.3(POLG):c.158_166del (p.Gln53_Gln55del) rs769735492
NM_002693.3(POLG):c.159A>G (p.Gln53=) rs587781118
NM_002693.3(POLG):c.160C>T (p.Gln54Ter) rs774768199
NM_002693.3(POLG):c.1763G>A (p.Gly588Asp) rs371334941
NM_002693.3(POLG):c.1905G>A (p.Pro635=) rs550592814
NM_002693.3(POLG):c.1905G>T (p.Pro635=) rs550592814
NM_002693.3(POLG):c.1950-10C>T rs749522324
NM_002693.3(POLG):c.237C>G (p.Leu79=) rs774537232
NM_002693.3(POLG):c.2481-10A>C rs555280530
NM_002693.3(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.3(POLG):c.2994G>C (p.Ser998=) rs567030498
NM_002693.3(POLG):c.2994G>T (p.Ser998=) rs567030498
NM_002693.3(POLG):c.3286C>G (p.Arg1096Gly) rs201732356
NM_002693.3(POLG):c.3482+6C>T rs55779802
NM_002693.3(POLG):c.3700C>A (p.Arg1234=) rs144346886
NM_002693.3(POLG):c.522C>G (p.Gly174=) rs766842881
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.3(POLG):c.856-17CTC[4] rs200056162
NM_002693.3(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_002693.3(POLG):c.975C>A (p.Pro325=) rs551973680
NM_002755.4(MAP2K1):c.608A>G (p.Glu203Gly) rs727503996
NM_002755.4(MAP2K1):c.694-12TC[4] rs113913469
NM_002834.5(PTPN11):c.1052G>A (p.Arg351Gln) rs397507534
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His) rs397507550
NM_002834.5(PTPN11):c.178G>T (p.Gly60Cys) rs397507507
NM_002834.5(PTPN11):c.213T>G (p.Phe71Leu) rs1555267558
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_002857.4(PEX19):c.115C>T (p.Pro39Ser) rs144256391
NM_002857.4(PEX19):c.162G>A (p.Ser54=) rs540593146
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile) rs876657965
NM_002900.3(RBP3):c.1641G>A (p.Thr547=) rs534717081
NM_002900.3(RBP3):c.816C>A (p.Gly272=) rs148432607
NM_002968.2(SALL1):c.466_477dup (p.Ser159_Gly160insSerSerSerSer) rs113614842
NM_002968.3(SALL1):c.1911G>A (p.Ala637=) rs148595195
NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del) rs113614842
NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del) rs113614842
NM_002968.3(SALL1):c.477_478insAGCGGC (p.Ser159_Gly160insSerGly) rs1555475415
NM_002968.3(SALL1):c.478GGC[5] (p.Gly163dup) rs1555475414
NM_003019.5(SFTPD):c.199+9G>A rs6413522
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003036.4(SKI):c.1890C>T (p.Ala630=) rs773151547
NM_003049.4(SLC10A1):c.34_38del (p.Phe12fs) rs747530550
NM_003049.4(SLC10A1):c.754C>A (p.Arg252Ser) rs141269120
NM_003060.4(SLC22A5):c.56_57delinsCT (p.Arg19Pro) rs1561560424
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) rs1555354198
NM_003193.5(TBCE):c.660+9_660+10del rs569925016
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp) rs863223792
NM_003242.6(TGFBR2):c.1254+8A>G rs200630803
NM_003289.4(TPM2):c.300C>T (p.Asp100=) rs532190742
NM_003289.4(TPM2):c.349G>A (p.Glu117Lys) rs104894129
NM_003289.4(TPM2):c.493-11_493-8del rs528068364
NM_003289.4(TPM2):c.773-3del rs35401252
NM_003289.4(TPM2):c.773-3dup rs35401252
NM_003289.4(TPM2):c.81C>T (p.Ala27=) rs564977715
NM_003322.6(TULP1):c.371_394del (p.Asp124_Glu131del) rs281865169
NM_003322.6(TULP1):c.846G>A (p.Pro282=) rs149980694
NM_003322.6(TULP1):c.961T>G (p.Tyr321Asp) rs794726991
NM_003361.4(UMOD):c.1458C>T (p.Tyr486=) rs141800038
NM_003383.5(VLDLR):c.-42GGC[9] rs71329437
NM_003392.7(WNT5A):c.141-8C>T rs188798140
NM_003413.4(ZIC3):c.135CGC[10] (p.Ala55dup) rs748325646
NM_003477.3(PDHX):c.160+9C>T rs886042781
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup) rs398123707
NM_003482.4(KMT2D):c.11692C>T (p.Gln3898Ter) rs398123708
NM_003482.4(KMT2D):c.11702AGC[6] (p.Gln3905dup) rs944680171
NM_003482.4(KMT2D):c.11738AGC[8] (p.Gln3919dup) rs576788910
NM_003482.4(KMT2D):c.11864_11893del (p.Leu3955_Gln3964del) rs886042299
NM_003482.4(KMT2D):c.13032del (p.Lys4345fs) rs398123716
NM_003482.4(KMT2D):c.13437G>T (p.Gly4479=) rs727503981
NM_003482.4(KMT2D):c.13671+10dup rs147210845
NM_003482.4(KMT2D):c.13797G>A (p.Ala4599=) rs727503980
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.4(KMT2D):c.15461G>A (p.Arg5154Gln) rs886043497
NM_003482.4(KMT2D):c.15559G>C (p.Ala5187Pro) rs775954885
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003482.4(KMT2D):c.2088_2114del (p.Thr698_Pro706del) rs780334086
NM_003482.4(KMT2D):c.2232_2258del (p.746RPEEPHLSP[1]) rs398123736
NM_003482.4(KMT2D):c.2264G>A (p.Arg755Gln) rs776110112
NM_003482.4(KMT2D):c.2283_2309del (p.Ala765_Gln773del) rs375538882
NM_003482.4(KMT2D):c.2551C>T (p.Leu851=) rs186151848
NM_003482.4(KMT2D):c.2798-7del rs112620957
NM_003482.4(KMT2D):c.2860T>C (p.Leu954=) rs398123740
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_003482.4(KMT2D):c.4421G>A (p.Cys1474Tyr) rs587783718
NM_003482.4(KMT2D):c.6456C>T (p.Gly2152=) rs727503985
NM_003482.4(KMT2D):c.7109G>C (p.Arg2370Pro) rs373234419
NM_003482.4(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser) rs398123761
NM_003494.4(DYSF):c.4C>T (p.Leu2=) rs772536111
NM_003611.3(OFD1):c.2052C>G (p.Ser684=) rs61742891
NM_003659.4(AGPS):c.638-7T>C rs886044553
NM_003673.4(TCAP):c.313G>A (p.Glu105Lys) rs146906267
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862
NM_003722.5(TP63):c.192-9_192-8del rs794727498
NM_003722.5(TP63):c.435G>C (p.Ala145=) rs546908184
NM_003742.4(ABCB11):c.1146_1166del (p.Phe383_Ala389del) rs1553468235
NM_003742.4(ABCB11):c.1404T>A (p.Ile468=) rs34200464
NM_003742.4(ABCB11):c.1435-13_1435-8del rs748716950
NM_003742.4(ABCB11):c.1444G>A (p.Asp482Asn) rs1558897179
NM_003742.4(ABCB11):c.1608T>C (p.Asn536=) rs1227759001
NM_003742.4(ABCB11):c.1622T>C (p.Ile541Thr) rs753994013
NM_003742.4(ABCB11):c.1857G>T (p.Thr619=) rs760948323
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=) rs200087122
NM_003742.4(ABCB11):c.236T>A (p.Val79Glu) rs886044603
NM_003742.4(ABCB11):c.2495G>A (p.Arg832His) rs376255350
NM_003742.4(ABCB11):c.2700G>A (p.Leu900=) rs371263629
NM_003742.4(ABCB11):c.390-1G>T rs1558917090
NM_003742.4(ABCB11):c.409G>A (p.Glu137Lys) rs1026511416
NM_003742.4(ABCB11):c.477+8G>T rs745477056
NM_003742.4(ABCB11):c.585G>C (p.Val195=) rs11568365
NM_003742.4(ABCB11):c.77-16dup rs746419453
NM_003742.4(ABCB11):c.77-8del rs746419453
NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys) rs2287617
NM_003816.3(ADAM9):c.1882-5_1882-4dup rs747974915
NM_003835.4(RGS9):c.313_314delinsGG (p.Thr105Gly) rs797044755
NM_003846.3(PEX11B):c.238G>A (p.Val80Ile) rs587764801
NM_003865.3(HESX1):c.511_512del (p.Gln171fs) rs752434998
NM_003919.3(SGCE):c.436T>A (p.Leu146Met) rs752074255
NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del) rs775006915
NM_004004.6(GJB2):c.187G>A (p.Val63Met) rs370696868
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190
NM_004006.3(DMD):c.-29dup rs398123823
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del) rs886042840
NM_004006.3(DMD):c.10504del (p.Glu3502fs) rs1556024147
NM_004006.3(DMD):c.1128dup (p.Asp377fs) rs886044624
NM_004006.3(DMD):c.1311T>G (p.Ala437=) rs398123855
NM_004006.3(DMD):c.1602+1G>T rs1057517960
NM_004006.3(DMD):c.1687C>A (p.Arg563Ser) rs145739725
NM_004006.3(DMD):c.1869C>G (p.Leu623=) rs1800267
NM_004006.3(DMD):c.2173G>T (p.Asp725Tyr) rs398123879
NM_004006.3(DMD):c.2569C>T (p.Pro857Ser) rs552275776
NM_004006.3(DMD):c.2603del (p.Ser868fs) rs886042348
NM_004006.3(DMD):c.3080G>C (p.Gly1027Ala) rs370171367
NM_004006.3(DMD):c.31+134AT[6] rs764891575
NM_004006.3(DMD):c.31+36947G>A rs886042106
NM_004006.3(DMD):c.3276+2del rs1557369964
NM_004006.3(DMD):c.3432+3A>G rs398123938
NM_004006.3(DMD):c.3603+3dup rs5902031
NM_004006.3(DMD):c.3639dup (p.Val1214fs) rs398123943
NM_004006.3(DMD):c.3649C>G (p.Leu1217Val) rs886042839
NM_004006.3(DMD):c.3696A>C (p.Ala1232=) rs369971712
NM_004006.3(DMD):c.3747del (p.Trp1249fs) rs398123945
NM_004006.3(DMD):c.445C>A (p.Arg149Ser) rs774139970
NM_004006.3(DMD):c.468A>C (p.Val156=) rs886044031
NM_004006.3(DMD):c.4941G>A (p.Thr1647=) rs750090479
NM_004006.3(DMD):c.5089C>T (p.Gln1697Ter) rs886042347
NM_004006.3(DMD):c.5326-11dup rs398123988
NM_004006.3(DMD):c.5358T>C (p.Phe1786=) rs886042125
NM_004006.3(DMD):c.5481G>A (p.Leu1827=) rs794727612
NM_004006.3(DMD):c.5602_5605del (p.Arg1868fs) rs863225003
NM_004006.3(DMD):c.579A>T (p.Thr193=) rs766344083
NM_004006.3(DMD):c.5933G>A (p.Arg1978His) rs148135406
NM_004006.3(DMD):c.649+5G>T rs1557047808
NM_004006.3(DMD):c.7179A>T (p.Lys2393Asn) rs202090289
NM_004006.3(DMD):c.7653G>A (p.Thr2551=) rs368803197
NM_004006.3(DMD):c.8172C>T (p.Leu2724=) rs886044500
NM_004006.3(DMD):c.8322G>T (p.Leu2774=) rs72466575
NM_004006.3(DMD):c.8757C>T (p.Asn2919=) rs753234741
NM_004006.3(DMD):c.923C>T (p.Thr308Ile) rs145064612
NM_004006.3(DMD):c.93+5590T>A rs1557211730
NM_004006.3(DMD):c.94-9dup rs3834997
NM_004098.4(EMX2):c.161CCG[4] (p.Ala58_Ala59del) rs756693906
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys) rs281865238
NM_004183.4(BEST1):c.715-18TCC[8] rs1805182
NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys) rs727503824
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=) rs35353912
NM_004187.5(KDM5C):c.2517-9_2517-7dup rs398124111
NM_004187.5(KDM5C):c.4338C>T (p.His1446=) rs797044695
NM_004239.4(TRIP11):c.4892+10del rs794727098
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly) rs34642881
NM_004260.4(RECQL4):c.213+6del rs535285068
NM_004260.4(RECQL4):c.2557TGCACC[4] (p.853CT[4]) rs548804317
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004260.4(RECQL4):c.3624C>A (p.Arg1208=) rs56341125
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln) rs35434411
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727
NM_004287.5(GOSR2):c.7C>A (p.Pro3Thr) rs12944167
NM_004304.5(ALK):c.4297GAG[2] (p.Glu1435del) rs138827116
NM_004316.4(ASCL1):c.151CAG[16] (p.Gln62_Ala63insGlnGlnGlnGln) rs3832799
NM_004333.6(BRAF):c.1207C>G (p.Pro403Ala) rs749792302
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) rs180177038
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.2128-5del rs373442098
NM_004333.6(BRAF):c.2128-5dup rs373442098
NM_004333.6(BRAF):c.83GCGCCG[4] (p.28GA[4]) rs397507458
NM_004333.6(BRAF):c.918C>G (p.Ser306=) rs794727865
NM_004341.5(CAD):c.1536C>T (p.Thr512=) rs368889621
NM_004369.4(COL6A3):c.1228G>A (p.Asp410Asn) rs35914491
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser) rs77181645
NM_004369.4(COL6A3):c.3852C>T (p.Phe1284=) rs148561729
NM_004369.4(COL6A3):c.3982C>T (p.Leu1328=) rs727503885
NM_004369.4(COL6A3):c.4011G>A (p.Pro1337=) rs114498197
NM_004369.4(COL6A3):c.4510C>A (p.Arg1504=) rs144223596
NM_004369.4(COL6A3):c.5148C>T (p.His1716=) rs114845780
NM_004369.4(COL6A3):c.576G>T (p.Pro192=) rs141560881
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys) rs760446904
NM_004369.4(COL6A3):c.6230G>A (p.Gly2077Asp) rs1553553646
NM_004369.4(COL6A3):c.761del (p.Gly254fs) rs780921503
NM_004369.4(COL6A3):c.7645C>A (p.Arg2549=) rs151079701
NM_004369.4(COL6A3):c.7983C>T (p.Phe2661=) rs375222168
NM_004369.4(COL6A3):c.9193C>T (p.Gln3065Ter) rs886043992
NM_004380.3(CREBBP):c.1331-12_1331-9del rs765955245
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg) rs147805823
NM_004380.3(CREBBP):c.2355_2366del (p.Ala787_Gln790del) rs755265819
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser) rs143247685
NM_004380.3(CREBBP):c.4729-14G>A rs130008
NM_004380.3(CREBBP):c.6600GCAGCAGCAACA[1] (p.Gln2213_Gln2216del) rs750150018
NM_004380.3(CREBBP):c.6621_6629del (p.Gln2214_Gln2216del) rs727503890
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His) rs142545779
NM_004380.3(CREBBP):c.6666_6677del (p.2220_2223GMAG[1]) rs778220523
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu) rs146887252
NM_004380.3(CREBBP):c.753T>G (p.Thr251=) rs142403441
NM_004385.5(VCAN):c.1458G>T (p.Ser486=) rs150735474
NM_004385.5(VCAN):c.6902T>G (p.Phe2301Cys) rs160278
NM_004385.5(VCAN):c.927T>C (p.Thr309=) rs536465380
NM_004415.4(DSP):c.4009del (p.Glu1337fs) rs794727381
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del) rs397516962
NM_004463.3(FGD1):c.1556G>A (p.Arg519His) rs398124157
NM_004463.3(FGD1):c.1564C>T (p.Arg522Cys) rs398124159
NM_004473.4(FOXE1):c.505GCC[9] (p.Ala178_Ala179del) rs71369530
NM_004484.4(GPC3):c.338-6_338-5del rs370737647
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004525.3(LRP2):c.13139del (p.Pro4380fs) rs80338754
NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu) rs41277835
NM_004560.4(ROR2):c.298G>A (p.Ala100Thr) rs374692105
NM_004565.3(PEX14):c.299-8G>A rs112851814
NM_004565.3(PEX14):c.48T>C (p.Thr16=) rs779545665
NM_004568.6(SERPINB6):c.441G>A (p.Ala147=) rs201913568
NM_004586.3(RPS6KA3):c.594-10dup rs755566588
NM_004606.5(TAF1):c.5499GGA[2] (p.Glu1837del) rs779870273
NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52GCG[8] (p.Ala26del) rs11466445
NM_004621.6(TRPC6):c.2142G>A (p.Thr714=) rs145077205
NM_004625.4(WNT7A):c.610G>A (p.Gly204Ser) rs387907231
NM_004646.4(NPHS1):c.3456G>T (p.Thr1152=) rs138092189
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) rs34982899
NM_004715.5(CTDP1):c.2307C>T (p.Pro769=) rs1403055370
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del) rs727504461
NM_004817.4(TJP2):c.1520+6T>C rs886044597
NM_004817.4(TJP2):c.2509C>T (p.Arg837Ter) rs746830415
NM_004817.4(TJP2):c.258C>T (p.Val86=) rs530810462
NM_004817.4(TJP2):c.3408-6del rs778863371
NM_004817.4(TJP2):c.395C>G (p.Pro132Arg) rs141496493
NM_004817.4(TJP2):c.850AGCCGC[3] (p.284SR[3]) rs760152519
NM_004820.5(CYP7B1):c.1460dup (p.Leu487fs) rs776075679
NM_004820.5(CYP7B1):c.260-15dup rs8192896
NM_004820.5(CYP7B1):c.963A>G (p.Glu321=) rs1045912447
NM_004839.4(HOMER2):c.763-8del rs567936162
NM_004982.4(KCNJ8):c.471G>C (p.Thr157=) rs143319002
NM_004984.4(KIF5A):c.2957C>G (p.Pro986Arg) rs113247976
NM_004985.5(KRAS):c.291-10del rs727503991
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) rs121913527
NM_004998.4(MYO1E):c.333-12_333-9del rs200881397
NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del) rs727504743
NM_005045.4(RELN):c.-24GGC[11] (p.Met1_Glu2insGlyGlyGly) rs55656324
NM_005045.4(RELN):c.-24GGC[4] rs55656324
NM_005045.4(RELN):c.1290-3dup rs146986040
NM_005045.4(RELN):c.1734G>A (p.Leu578=) rs727504126
NM_005045.4(RELN):c.5211-7dup rs34125550
NM_005045.4(RELN):c.5211-9_5211-7del rs34125550
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del) rs762015967
NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu) rs375218091
NM_005097.4(LGI1):c.297A>G (p.Thr99=) rs777027658
NM_005104.4(BRD2):c.1497GGA[1] (p.Glu500del) rs3918142
NM_005120.3(MED12):c.3844G>A (p.Val1282Met) rs398124197
NM_005120.3(MED12):c.4416-77CTCTT[13] rs56658066
NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup) rs757160341
NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup) rs757160341
NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup) rs786200971
NM_005120.3(MED12):c.6288GCA[9] (p.Gln2114_Gln2115dup) rs766775649
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del) rs727503869
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005188.4(CBL):c.107ACC[8] (p.His42dup) rs373212940
NM_005188.4(CBL):c.2190G>A (p.Thr730=) rs143840974
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val) rs189809247
NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[8] (p.Pro618_Pro620del) rs3075570
NM_005249.5(FOXG1):c.1086G>A (p.Leu362=) rs570981209
NM_005249.5(FOXG1):c.194CGC[6] (p.Pro69dup) rs761703699
NM_005249.5(FOXG1):c.209AGC[5] (p.Gln73dup) rs398124201
NM_005249.5(FOXG1):c.209_232del (p.Gln70_Pro77del) rs794726920
NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup) rs786200975
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter) rs121909305
NM_005379.4(MYO1A):c.3128A>G (p.Gln1043Arg) rs370617353
NM_005413.4(SIX3):c.187GGC[8] (p.Gly69dup) rs555285206
NM_005422.4(TECTA):c.336T>C (p.Tyr112=) rs886043412
NM_005422.4(TECTA):c.4004G>A (p.Gly1335Glu) rs148619105
NM_005422.4(TECTA):c.6062G>A (p.Arg2021His) rs121909062
NM_005422.4(TECTA):c.6402G>T (p.Thr2134=) rs141203939
NM_005445.4(SMC3):c.548-5_548-4dup rs199906378
NM_005448.2(BMP15):c.13A>C (p.Ser5Arg) rs113099187
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr) rs387906347
NM_005476.7(GNE):c.1915C>T (p.Gln639Ter) rs886042195
NM_005476.7(GNE):c.2086G>T (p.Val696Leu) rs121908627
NM_005476.7(GNE):c.211A>T (p.Arg71Trp) rs886044539
NM_005476.7(GNE):c.484C>T (p.Arg162Cys) rs769215411
NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg) rs794727637
NM_005477.3(HCN4):c.2804C>T (p.Ser935Phe) rs775803239
NM_005477.3(HCN4):c.321C>T (p.Gly107=) rs1555479019
NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln) rs78944354
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) rs150129885
NM_005529.7(HSPG2):c.8336G>A (p.Arg2779Gln) rs529205824
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu) rs147114700
NM_005548.3(KARS1):c.1486T>C (p.Cys496Arg) rs776736207
NM_005559.4(LAMA1):c.505C>T (p.Arg169Ter) rs752872595
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005633.3(SOS1):c.2511-9dup rs727503436
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005634.3(SOX3):c.14G>A (p.Arg5Gln) rs112180170
NM_005634.3(SOX3):c.711_731del (p.Ala242_Ala248del) rs776775669
NM_005634.3(SOX3):c.732delinsCGCC (p.Ala248dup) rs794726924
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_005708.5(GPC6):c.1152+9T>A rs794727797
NM_005802.5(TOPORS):c.1953C>T (p.Ser651=) rs727504178
NM_005802.5(TOPORS):c.2018G>T (p.Arg673Leu) rs147497536
NM_005802.5(TOPORS):c.74C>G (p.Ser25Trp) rs61758066
NM_005857.5(ZMPSTE24):c.951_954+2del rs747563189
NM_005881.4(BCKDK):c.*9C>A rs199965337
NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys) rs794727798
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile) rs1555691402
NM_005957.5(MTHFR):c.1408_1409delinsCT (p.Glu470Leu) rs886043349
NM_006005.3(WFS1):c.114C>T (p.Ser38=) rs531593902
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.154C>A (p.Pro52Thr) rs111773340
NM_006005.3(WFS1):c.1725C>T (p.Ala575=) rs2230719
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) rs1805070
NM_006005.3(WFS1):c.2370G>A (p.Ser790=) rs150936382
NM_006005.3(WFS1):c.2370G>C (p.Ser790=) rs150936382
NM_006005.3(WFS1):c.2385G>A (p.Glu795=) rs373310972
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) rs104893883
NM_006005.3(WFS1):c.937C>T (p.His313Tyr) rs886044563
NM_006015.6(ARID1A):c.729GGC[4] (p.Ala247dup) rs749970078
NM_006017.3(PROM1):c.1234del (p.Tyr412fs) rs1460604134
NM_006017.3(PROM1):c.2374-5dup rs34269395
NM_006017.3(PROM1):c.879C>T (p.Ser293=) rs148242593
NM_006019.4(TCIRG1):c.1623G>A (p.Leu541=) rs534950651
NM_006019.4(TCIRG1):c.1755G>T (p.Val585=) rs1554999033
NM_006019.4(TCIRG1):c.1836C>T (p.Asn612=) rs886042823
NM_006031.6(PCNT):c.2108A>T (p.Tyr703Phe) rs572444748
NM_006031.6(PCNT):c.24G>C (p.Arg8=) rs375279759
NM_006031.6(PCNT):c.3441C>T (p.Asp1147=) rs201652457
NM_006031.6(PCNT):c.4571C>G (p.Pro1524Arg) rs35513449
NM_006031.6(PCNT):c.481_519dup (p.Val161_Thr173dup) rs886042352
NM_006031.6(PCNT):c.5074G>A (p.Val1692Ile) rs113342730
NM_006031.6(PCNT):c.5563C>A (p.Arg1855=) rs151138182
NM_006031.6(PCNT):c.7464C>G (p.Leu2488=) rs572321857
NM_006031.6(PCNT):c.8889G>A (p.Ser2963=) rs151325202
NM_006059.4(LAMC3):c.1939G>C (p.Gly647Arg) rs144242690
NM_006059.4(LAMC3):c.2438_2439delinsAG (p.Ser813Lys) rs386738959
NM_006059.4(LAMC3):c.3250G>C (p.Glu1084Gln) rs146221263
NM_006059.4(LAMC3):c.3379G>A (p.Glu1127Lys) rs140955110
NM_006059.4(LAMC3):c.4146G>C (p.Arg1382Ser) rs147092908
NM_006059.4(LAMC3):c.521_522delinsAG (p.Pro174Gln) rs386738954
NM_006147.4(IRF6):c.911T>C (p.Leu304Pro) rs1064793154
NM_006208.3(ENPP1):c.27C>G (p.Gly9=) rs794726927
NM_006208.3(ENPP1):c.313+9del rs377330284
NM_006214.4(PHYH):c.415-11dup rs140309981
NM_006261.5(PROP1):c.152G>C (p.Gly51Ala) rs2233783
NM_006261.5(PROP1):c.592T>C (p.Leu198=) rs780774091
NM_006261.5(PROP1):c.636T>C (p.Pro212=) rs759632048
NM_006269.2(RP1):c.2700dup (p.Pro901fs) rs797044735
NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr) rs61739567
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006343.3(MERTK):c.1137T>G (p.Thr379=) rs1558793454
NM_006343.3(MERTK):c.1961-4dup rs772574056
NM_006343.3(MERTK):c.2435A>C (p.Tyr812Ser) rs141361084
NM_006343.3(MERTK):c.773C>A (p.Ala258Glu) rs35252762
NM_006420.3(ARFGEF2):c.3624C>G (p.Ala1208=) rs372376922
NM_006445.4(PRPF8):c.5001C>T (p.Arg1667=) rs794727562
NM_006445.4(PRPF8):c.5943G>C (p.Val1981=) rs758937794
NM_006486.3(FBLN1):c.279G>T (p.Thr93=) rs765918593
NM_006493.4(CLN5):c.415T>C (p.Phe139Leu) rs794727507
NM_006493.4(CLN5):c.808_823del (p.Gly270fs) rs386833983
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006516.4(SLC2A1):c.458G>A (p.Arg153His) rs794727642
NM_006516.4(SLC2A1):c.49G>A (p.Gly17Arg) rs1345986424
NM_006516.4(SLC2A1):c.679+4C>T rs139492241
NM_006516.4(SLC2A1):c.679+7G>C rs13306757
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006517.5(SLC16A2):c.-114GGCAGC[2] rs760787234
NM_006517.5(SLC16A2):c.113AGCCCG[4] (p.34EP[6]) rs757881983
NM_006517.5(SLC16A2):c.576-1G>A rs886042238
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His) rs727504155
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln) rs1567610917
NM_006565.4(CTCF):c.1130G>A (p.Arg377His) rs968244943
NM_006642.5(SDCCAG8):c.1094G>A (p.Arg365Lys) rs115098969
NM_006642.5(SDCCAG8):c.597C>A (p.Gly199=) rs143407309
NM_006662.3(SRCAP):c.5838C>A (p.Pro1946=) rs1276291921
NM_006662.3(SRCAP):c.6576G>A (p.Glu2192=) rs886044120
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1]) rs548231613
NM_006790.3(MYOT):c.1275A>G (p.Ala425=) rs140678912
NM_006790.3(MYOT):c.1401T>C (p.Asn467=) rs145427063
NM_006790.3(MYOT):c.343G>A (p.Ala115Thr) rs114194130
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser) rs114194130
NM_006846.4(SPINK5):c.2494ACAGGAGAAAGGAGCAAT[1] (p.832TGERSN[1]) rs554634510
NM_006859.4(LIAS):c.-1A>G rs139360916
NM_006899.5(IDH3B):c.34C>T (p.Arg12Ter) rs745313320
NM_006899.5(IDH3B):c.522G>T (p.Leu174=) rs778097475
NM_006899.5(IDH3B):c.665+8G>T rs1555781271
NM_006922.4(SCN3A):c.3844-19dup rs71028466
NM_006922.4(SCN3A):c.5172C>T (p.Pro1724=) rs370428859
NM_007055.4(POLR3A):c.1771-5del rs544204280
NM_007078.3(LDB3):c.896+6669TC[12] rs71019410
NM_007126.5(VCP):c.1896C>A (p.Ala632=) rs141275388
NM_007129.5(ZIC2):c.1392_1406del (p.Ala466_Ala470del) rs761822481
NM_007129.5(ZIC2):c.692ACC[10] (p.His239dup) rs398124241
NM_007214.5(SEC63):c.340-12_340-11del rs139413431
NM_007214.5(SEC63):c.340-12_340-7delinsCCC rs1554237221
NM_007214.5(SEC63):c.340-12_340-7delinsCCCC rs1554237221
NM_007254.4(PNKP):c.1286_1298+6dup rs760249644
NM_007254.4(PNKP):c.1295_1298+6del rs587784366
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln) rs376854895
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007294.4(BRCA1):c.1467G>A (p.Glu489=) rs794726997
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.389A>T (p.Tyr130Phe) rs56055578
NM_007294.4(BRCA1):c.439T>C (p.Leu147=) rs794727800
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala) rs80357132
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.548-9del rs273902774
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.81-13C>G rs56328013
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667
NM_012186.3(FOXE3):c.834C>T (p.Pro278=) rs886042525
NM_012200.4(B3GAT3):c.830G>A (p.Arg277Gln) rs387906937
NM_012210.4(TRIM32):c.1108del (p.Met370fs) rs759376012
NM_012210.4(TRIM32):c.1710G>A (p.Ser570=) rs555217187
NM_012210.4(TRIM32):c.319C>T (p.Leu107=) rs886042410
NM_012210.4(TRIM32):c.633T>C (p.Ala211=) rs753960738
NM_012233.3(RAB3GAP1):c.2343_2347del (p.Pro782fs) rs794727324
NM_012254.3(SLC27A5):c.1407C>T (p.Phe469=) rs536826731
NM_012254.3(SLC27A5):c.1940G>T (p.Arg647Leu) rs564295346
NM_012254.3(SLC27A5):c.309G>A (p.Lys103=) rs956885811
NM_012254.3(SLC27A5):c.813G>T (p.Ala271=) rs559467414
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) rs143509747
NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=) rs139680786
NM_012469.4(PRPF6):c.2431+9del rs779390592
NM_012470.4(TNPO3):c.2274-5A>G rs567711266
NM_013296.5(GPSM2):c.742del (p.Gly249fs) rs528069912
NM_013328.4(PYCR2):c.757_758dup (p.Leu254fs) rs886043378
NM_013335.4(GMPPA):c.486C>G (p.His162Gln) rs36029384
NM_013382.7(POMT2):c.1658dup (p.Asn553fs) rs886043110
NM_013382.7(POMT2):c.1726-9A>T rs747493997
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter) rs1452558347
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013382.7(POMT2):c.559C>T (p.Leu187Phe) rs398124265
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014008.5(CCDC22):c.1150C>T (p.Arg384Cys) rs143790434
NM_014008.5(CCDC22):c.747= (p.Gln249=) rs2294020
NM_014014.5(SNRNP200):c.3897C>G (p.Thr1299=) rs144934076
NM_014112.5(TRPS1):c.933G>A (p.Arg311=) rs886043713
NM_014140.4(SMARCAL1):c.340C>G (p.Arg114Gly) rs202031614
NM_014141.6(CNTNAP2):c.1566G>A (p.Gln522=) rs535454043
NM_014141.6(CNTNAP2):c.2136C>T (p.Asn712=) rs187552025
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) rs138517537
NM_014141.6(CNTNAP2):c.3193C>A (p.Leu1065Ile) rs146225600
NM_014141.6(CNTNAP2):c.3595G>T (p.Ala1199Ser) rs727503878
NM_014141.6(CNTNAP2):c.3678C>T (p.Ser1226=) rs201219937
NM_014141.6(CNTNAP2):c.3716-17TCTT[3] rs142426153
NM_014191.4(SCN8A):c.632T>C (p.Val211Ala) rs1057518487
NM_014231.5(VAMP1):c.65del (p.Pro22fs) rs886042861
NM_014236.4(GNPAT):c.1752C>T (p.Cys584=) rs775776447
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=) rs41285549
NM_014244.5(ADAMTS2):c.1869C>T (p.Arg623=) rs376058580
NM_014244.5(ADAMTS2):c.80_88dup (p.Leu27_Pro29dup) rs775509290
NM_014251.3(SLC25A13):c.848+9G>T rs201395793
NM_014254.3(RXYLT1):c.641del (p.Phe214fs) rs1354951198
NM_014324.6(AMACR):c.109C>A (p.Pro37Thr) rs199734111
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) rs150427474
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu) rs148286091
NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser) rs1555249106
NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu) rs797045938
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr) rs527513599
NM_014363.6(SACS):c.4747C>A (p.Pro1583Thr) rs1566068552
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) rs537408260
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014425.5(INVS):c.3182dup (p.Asn1061fs) rs760013326
NM_014467.3(SRPX2):c.605G>A (p.Arg202Gln) rs200784551
NM_014491.3(FOXP2):c.618_620dupGCA
NM_014491.4(FOXP2):c.1434A>T (p.Arg478=) rs201343293
NM_014491.4(FOXP2):c.510ACA[4] (p.Gln191del) rs398124272
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs) rs749740335
NM_014639.4(SKIC3):c.2292-7C>T rs1554050960
NM_014639.4(SKIC3):c.3015-14dup rs745805590
NM_014639.4(SKIC3):c.4497-14dup rs755628334
NM_014780.5(CUL7):c.1782G>A (p.Ala594=) rs369092411
NM_014780.5(CUL7):c.2229C>G (p.Ala743=) rs188565648
NM_014780.5(CUL7):c.2754G>A (p.Thr918=) rs138777262
NM_014795.4(ZEB2):c.1542G>A (p.Pro514=) rs141674976
NM_014795.4(ZEB2):c.1542G>T (p.Pro514=) rs141674976
NM_014795.4(ZEB2):c.3067+6A>T rs143450927
NM_014795.4(ZEB2):c.980C>A (p.Ser327Ter) rs756686919
NM_014795.4(ZEB2):c.9G>A (p.Gln3=) rs149882004
NM_014845.6(FIG4):c.1583+3A>G rs866431185
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_014874.4(MFN2):c.1148C>T (p.Ala383Val) rs794727035
NM_014874.4(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.4(MFN2):c.392A>G (p.Asn131Ser) rs776404901
NM_014920.5(CILK1):c.1106_1117del (p.Pro369_Leu372del) rs201964851
NM_014920.5(CILK1):c.534C>T (p.Ser178=) rs543243399
NM_014920.5(CILK1):c.816A>T (p.Arg272=) rs868057037
NM_014920.5(CILK1):c.831+5del rs200780900
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014989.7(RIMS1):c.2107T>A (p.Ser703Thr) rs772471723
NM_015072.5(TTLL5):c.2209C>T (p.Arg737Ter) rs1555344661
NM_015102.5(NPHP4):c.1257C>T (p.His419=) rs768393994
NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser) rs547495754
NM_015102.5(NPHP4):c.2250C>T (p.Asp750=) rs201090359
NM_015102.5(NPHP4):c.3758G>A (p.Arg1253Gln) rs560944258
NM_015102.5(NPHP4):c.594G>C (p.Ala198=) rs141538649
NM_015107.3(PHF8):c.2210C>G (p.Ser737Ter) rs797044665
NM_015166.4(MLC1):c.654C>A (p.Asn218Lys) rs41302601
NM_015272.5(RPGRIP1L):c.1701C>A (p.Ala567=) rs1555604462
NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter) rs1037406858
NM_015294.6(TRIM37):c.398C>T (p.Ala133Val) rs61758100
NM_015295.3(SMCHD1):c.162G>T (p.Ala54=) rs766395572
NM_015295.3(SMCHD1):c.1655G>A (p.Arg552Gln) rs886042392
NM_015295.3(SMCHD1):c.3444T>A (p.Pro1148=) rs76290319
NM_015295.3(SMCHD1):c.4282-5dup rs752013568
NM_015295.3(SMCHD1):c.4695C>T (p.Phe1565=) rs757300247
NM_015311.3(OBSL1):c.4005C>T (p.Asp1335=) rs375716830
NM_015311.3(OBSL1):c.4812C>T (p.Ala1604=) rs564855597
NM_015346.4(ZFYVE26):c.2067C>T (p.Leu689=) rs141880939
NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr) rs2235967
NM_015346.4(ZFYVE26):c.5485-1del rs878855013
NM_015404.4(WHRN):c.1417-1G>A rs779760634
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) rs150586098
NM_015506.3(MMACHC):c.603T>C (p.Arg201=) rs398124294
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser) rs201025783
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783
NM_015629.4(PRPF31):c.527+9G>T rs376994481
NM_015697.9(COQ2):c.64A>T (p.Arg22Ter) rs112033303
NM_015702.3(MMADHC):c.609+8_609+100del rs1553453945
NM_015884.4(MBTPS2):c.348CTCTTCTTCCTCTTCCTC[1] (p.Ser131_Ser136del) rs762761040
NM_015909.4(NBAS):c.2950del (p.Ile984fs) rs776797592
NM_015910.7(WDPCP):c.385-3del rs559429215
NM_015922.3(NSDHL):c.727G>A (p.Val243Met) rs587784224
NM_015922.3(NSDHL):c.842G>A (p.Arg281His) rs782143078
NM_016180.5(SLC45A2):c.834C>G (p.Tyr278Ter) rs116887602
NM_016239.4(MYO15A):c.1323G>A (p.Ala441=) rs376905344
NM_016239.4(MYO15A):c.534C>T (p.Ala178=) rs749146534
NM_016239.4(MYO15A):c.6178-1G>A rs886044338
NM_016247.4(IMPG2):c.3423-7_3423-4del rs534452999
NM_016247.4(IMPG2):c.534-13dup rs567795716
NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter) rs904520404
NM_016356.5(DCDC2):c.543C>T (p.Ser181=) rs141060456
NM_016356.5(DCDC2):c.696G>A (p.Arg232=) rs758802517
NM_016356.5(DCDC2):c.970dup (p.Ala324fs) rs774115675
NM_016366.3(CABP2):c.201C>A (p.Ala67=) rs138981491
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_016729.3(FOLR1):c.510A>G (p.Ala170=) rs564331848
NM_016955.5(SEPSECS):c.808dup rs776969714
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His) rs143918373
NM_017433.5(MYO3A):c.3585G>T (p.Val1195=) rs372169216
NM_017433.5(MYO3A):c.4567C>G (p.Arg1523Gly) rs727504688
NM_017534.6(MYH2):c.1792G>A (p.Glu598Lys) rs1555571267
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017547.4(FOXRED1):c.9G>A (p.Arg3=) rs28372779
NM_017668.3(NDE1):c.1A>G (p.Met1Val) rs794727491
NM_017668.3(NDE1):c.701G>A (p.Arg234His) rs138255766
NM_017775.3(TTC19):c.-169C>G rs73276077
NM_017777.4(MKS1):c.1025-2A>C rs794727070
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.2377-3dup rs752271550
NM_017780.4(CHD7):c.3949C>T (p.Arg1317Cys) rs373301291
NM_017837.4(PIGV):c.348_349delinsAG (p.Ile117Val) rs886044116
NM_017837.4(PIGV):c.678G>A (p.Thr226=) rs769023704
NM_017866.6(TMEM70):c.720_723del (p.Glu241fs) rs746973761
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser) rs527373013
NM_017882.3(CLN6):c.721A>G (p.Met241Val) rs753994750
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_017946.4(FKBP14):c.493AAG[1] (p.Lys166del) rs542254849
NM_017950.4(CCDC40):c.3354C>A (p.Tyr1118Ter) rs374909386
NM_018006.5(TRMU):c.102G>A (p.Val34=) rs1426898716
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_018006.5(TRMU):c.248+9_248+18del rs763718617
NM_018006.5(TRMU):c.99G>A (p.Gly33=) rs1569060096
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly) rs3804506
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del) rs587783241
NM_018136.5(ASPM):c.5138G>A (p.Arg1713His) rs141297873
NM_018136.5(ASPM):c.8309T>G (p.Val2770Gly) rs886043529
NM_018136.5(ASPM):c.9830-8dup rs748383126
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018451.5(CPAP):c.1908C>G (p.Arg636=) rs61743613
NM_018451.5(CPAP):c.2992-17dup rs35599563
NM_018451.5(CPAP):c.3538_3539delinsTG (p.Glu1180Ter) rs1566276461
NM_018714.3(COG1):c.903G>C (p.Gln301His) rs117208167
NM_018941.4(CLN8):c.648C>T (p.Phe216=) rs564074916
NM_018965.4(TREM2):c.287C>A (p.Thr96Lys) rs2234253
NM_018979.4(WNK1):c.6624C>A (p.Ser2208Arg) rs72650768
NM_019066.5(MAGEL2):c.1344ACCCGTGATCCGCCAGGCCCC[1] (p.442PVIRQAP[2]) rs794726941
NM_019066.5(MAGEL2):c.1404CCCACCTGTGATCCGCCAGGC[1] (p.464VIRQAPP[3]) rs1386125417
NM_019066.5(MAGEL2):c.2919G>A (p.Pro973=) rs544938560
NM_019066.5(MAGEL2):c.479CCCATCCTCCTCCTCCGGGGACCCCGATGG[1] (p.160AHPPPPGTPM[1]) rs751352401
NM_019066.5(MAGEL2):c.939CCCACCTGCACAGCCGATGGC[1] (p.314PPAQPMA[1]) rs528108868
NM_019098.5(CNGB3):c.843A>G (p.Gly281=) rs1200686449
NM_019109.5(ALG1):c.115del (p.Val39fs) rs886042130
NM_019109.5(ALG1):c.390+13C>A rs62036244
NM_020166.5(MCCC1):c.156C>A (p.Val52=) rs398124353
NM_020166.5(MCCC1):c.640-1G>A rs727504005
NM_020184.4(CNNM4):c.627G>A (p.Leu209=) rs1553474576
NM_020223.4(FAM20C):c.200C>A (p.Pro67His) rs538469200
NM_020297.4(ABCC9):c.1165-6dup rs35857705
NM_020320.5(RARS2):c.888G>A (p.Thr296=) rs145189950
NM_020365.5(EIF2B3):c.32G>T (p.Gly11Val) rs754415797
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358
NM_020436.5(SALL4):c.2051ATG[2] (p.Asp686del) rs557068877
NM_020451.3(SELENON):c.427GAG[5] (p.Glu146dup) rs141295085
NM_020631.6(PLEKHG5):c.2160G>A (p.Glu720=) rs867638588
NM_020631.6(PLEKHG5):c.997C>A (p.Arg333=) rs148232621
NM_020745.4(AARS2):c.2728_2755del (p.Thr910fs) rs780343109
NM_020751.3(COG6):c.-17dup rs67765306
NM_020751.3(COG6):c.1167-24A>G rs730882236
NM_020822.3(KCNT1):c.1620-15_1620-5dup rs761464076
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020822.3(KCNT1):c.2944-52CTCC[4] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[7] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[8] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[9] rs55843930
NM_020975.6(RET):c.2284+54C>A rs566375223
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu) rs768132465
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg) rs886041715
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del) rs747975797
NM_021072.4(HCN1):c.203GCG[5] (p.Gly73_Gly74del) rs747975797
NM_021072.4(HCN1):c.203GCG[8] (p.Gly74dup) rs747975797
NM_021072.4(HCN1):c.336C>A (p.Arg112=) rs794726951
NM_021625.5(TRPV4):c.396G>A (p.Pro132=) rs114101785
NM_021728.4(OTX2):c.444G>C (p.Pro148=) rs147896150
NM_021939.4(FKBP10):c.1029C>T (p.Ile343=) rs782632205
NM_021939.4(FKBP10):c.21C>T (p.Pro7=) rs781985978
NM_021939.4(FKBP10):c.246-5C>G rs140027863
NM_022039.4(FBXW4):c.485AGG[8] (p.Glu168dup) rs560966094
NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln) rs562525508
NM_022124.6(CDH23):c.2532C>T (p.Asn844=) rs756454038
NM_022124.6(CDH23):c.3477G>C (p.Leu1159=) rs1564759522
NM_022124.6(CDH23):c.4209+1G>T rs727503841
NM_022124.6(CDH23):c.5130C>A (p.Ile1710=) rs111033487
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_022124.6(CDH23):c.6108C>T (p.Ile2036=) rs749235545
NM_022124.6(CDH23):c.6169A>G (p.Ile2057Val) rs573057228
NM_022132.5(MCCC2):c.557_560delinsTTGTCGAGGTAAGTGT (p.Pro186_Asp187delinsLeuValGluValSerVal) rs797044772
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
NM_022356.4(P3H1):c.1120G>T (p.Glu374Ter) rs140468248
NM_022356.4(P3H1):c.2148= (p.Gly716=) rs4660662
NM_022436.3(ABCG5):c.1311C>T (p.Asn437=) rs575266356
NM_022436.3(ABCG5):c.139G>A (p.Val47Ile) rs72542426
NM_022436.3(ABCG5):c.501+11dup rs200655485
NM_022436.3(ABCG5):c.550C>T (p.Leu184=) rs762951266
NM_022437.3(ABCG8):c.1024G>T (p.Ala342Ser) rs145373839
NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys) rs4148217
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val) rs147194762
NM_022437.3(ABCG8):c.1293C>A (p.Ile431=) rs202176869
NM_022437.3(ABCG8):c.1756+6G>A rs375563605
NM_022437.3(ABCG8):c.1756+6G>T rs375563605
NM_022437.3(ABCG8):c.1757-4C>G rs765522418
NM_022437.3(ABCG8):c.1884+9G>A rs759152941
NM_022437.3(ABCG8):c.1885-7T>C rs1485558944
NM_022437.3(ABCG8):c.547del (p.Gln183fs) rs387906323
NM_022437.3(ABCG8):c.576C>A (p.Ile192=) rs148058949
NM_022437.3(ABCG8):c.642G>A (p.Ser214=) rs202198142
NM_022437.3(ABCG8):c.647_657dup (p.Arg220fs) rs1456237152
NM_022437.3(ABCG8):c.768C>T (p.Ser256=) rs1558811634
NM_022437.3(ABCG8):c.965-1G>C rs957176669
NM_022455.5(NSD1):c.1260A>G (p.Lys420=) rs1397377820
NM_022455.5(NSD1):c.2309G>T (p.Gly770Val) rs375566261
NM_022455.5(NSD1):c.3383C>T (p.Ser1128Phe) rs559441081
NM_022455.5(NSD1):c.3762C>T (p.Pro1254=) rs794727734
NM_022455.5(NSD1):c.4564G>T (p.Asp1522Tyr) rs201483724
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=) rs61749654
NM_022455.5(NSD1):c.6152-14G>A rs587784182
NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys) rs398124380
NM_022455.5(NSD1):c.750AGC[1] (p.Ala252del) rs398124385
NM_022455.5(NSD1):c.7632C>T (p.Ala2544=) rs886042468
NM_022458.4(LMBR1):c.528C>G (p.Ala176=) rs138255184
NM_024009.3(GJB3):c.196_198del (p.Asp66del) rs786200895
NM_024009.3(GJB3):c.652_663del (p.Leu218_Asp221del) rs727503069
NM_024079.5(ALG8):c.856T>G (p.Trp286Gly) rs794727931
NM_024120.5(NDUFAF5):c.718-1G>A rs1359810808
NM_024301.5(FKRP):c.1016G>A (p.Arg339His) rs1450841129
NM_024301.5(FKRP):c.586G>C (p.Gly196Arg) rs759875552
NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs) rs747789493
NM_024312.5(GNPTAB):c.1931_1932inv (p.Thr644Met)
NM_024312.5(GNPTAB):c.344_345del (p.Thr115fs) rs281864954
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_024408.4(NOTCH2):c.15C>G (p.Arg5=) rs4021006
NM_024408.4(NOTCH2):c.3789A>C (p.Gly1263=) rs149036937
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile) rs17024517
NM_024408.4(NOTCH2):c.4999G>T (p.Val1667Phe) rs17024517
NM_024408.4(NOTCH2):c.5781+10A>C rs369586235
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024529.5(CDC73):c.-4dup rs545666726
NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val) rs139653980
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter) rs572671721
NM_024596.5(MCPH1):c.1781C>G (p.Thr594Arg) rs115033462
NM_024596.5(MCPH1):c.216G>A (p.Ser72=) rs775942126
NM_024596.5(MCPH1):c.2256C>T (p.Arg752=) rs35999761
NM_024596.5(MCPH1):c.433C>T (p.Leu145=) rs139607465
NM_024596.5(MCPH1):c.90A>G (p.Thr30=) rs139678787
NM_024608.4(NEIL1):c.314dup (p.Pro106fs) rs556576971
NM_024747.6(HPS6):c.444C>G (p.Ala148=) rs533784966
NM_024753.5(TTC21B):c.2569-10dup rs144600502
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=) rs115504901
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn) rs138283222
NM_024757.5(EHMT1):c.3180+10G>T rs113676865
NM_024757.5(EHMT1):c.3555C>T (p.Tyr1185=) rs398124407
NM_024757.5(EHMT1):c.35G>C (p.Arg12Thr) rs777999570
NM_024757.5(EHMT1):c.390G>A (p.Pro130=) rs144323841
NM_024757.5(EHMT1):c.432C>T (p.Ala144=) rs139461232
NM_025074.7(FRAS1):c.4365G>C (p.Ala1455=) rs375417798
NM_025074.7(FRAS1):c.4857A>G (p.Val1619=) rs886044144
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter) rs775517752
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.2067G>A (p.Lys689=) rs1425613490
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.251-19dup rs752284551
NM_025193.4(HSD3B7):c.890del (p.Phe297fs) rs886043511
NM_025219.3(DNAJC5):c.153G>T (p.Pro51=) rs151265913
NM_025243.4(SLC19A3):c.*8G>A rs188532608
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=) rs138363524
NM_025265.4(TSEN2):c.560G>C (p.Arg187Pro) rs146117200
NM_030632.3(ASXL3):c.1471C>T (p.Gln491Ter) rs1060499602
NM_030632.3(ASXL3):c.3349C>T (p.Arg1117Ter) rs868044680
NM_030665.4(RAI1):c.139G>A (p.Ala47Thr) rs398124413
NM_030665.4(RAI1):c.2659A>G (p.Met887Val) rs794727523
NM_030665.4(RAI1):c.3270C>G (p.Ala1090=) rs398124416
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_030665.4(RAI1):c.834GCA[17] (p.Gln288_Gln291dup) rs371983878
NM_030665.4(RAI1):c.834GCA[6] (p.Gln285_Gln291del) rs371983878
NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del) rs371983878
NM_030665.4(RAI1):c.849G>A (p.Gln283=) rs886042730
NM_030753.5(WNT3):c.309C>A (p.Pro103=) rs749737942
NM_030962.4(SBF2):c.619+1G>A rs1565150234
NM_031443.4(CCM2):c.30+5_30+6delinsTT rs797044623
NM_031935.3(HMCN1):c.15010_15011delinsTT (p.Thr5004Phe) rs794728017
NM_032043.3(BRIP1):c.3401del (p.Pro1134fs) rs756853672
NM_032119.4(ADGRV1):c.11157C>A (p.Ile3719=) rs762094907
NM_032119.4(ADGRV1):c.13130C>A (p.Pro4377His) rs542081391
NM_032119.4(ADGRV1):c.14432C>T (p.Pro4811Leu) rs201747452
NM_032119.4(ADGRV1):c.14928C>T (p.His4976=) rs1251473317
NM_032119.4(ADGRV1):c.15837C>A (p.Ile5279=) rs765630970
NM_032119.4(ADGRV1):c.16248C>G (p.Val5416=) rs3763073
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu) rs41303350
NM_032119.4(ADGRV1):c.17215A>G (p.Ile5739Val) rs747089219
NM_032119.4(ADGRV1):c.18229G>A (p.Val6077Met) rs762746997
NM_032119.4(ADGRV1):c.18433-5del rs35858094
NM_032119.4(ADGRV1):c.18433-5dup rs35858094
NM_032119.4(ADGRV1):c.18433-7_18433-5del rs35858094
NM_032119.4(ADGRV1):c.18433-9_18433-5del rs35858094
NM_032119.4(ADGRV1):c.2106G>A (p.Val702=) rs749630454
NM_032119.4(ADGRV1):c.2567A>G (p.Tyr856Cys) rs558804189
NM_032119.4(ADGRV1):c.5784C>T (p.Ser1928=) rs199605700
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser) rs41311335
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) rs41302834
NM_032119.4(ADGRV1):c.5830G>T (p.Asp1944Tyr) rs41302834
NM_032119.4(ADGRV1):c.5953A>C (p.Asn1985His) rs41303352
NM_032119.4(ADGRV1):c.5953A>G (p.Asn1985Asp) rs41303352
NM_032119.4(ADGRV1):c.600A>G (p.Pro200=) rs776978539
NM_032119.4(ADGRV1):c.6290G>A (p.Arg2097His) rs572910896
NM_032119.4(ADGRV1):c.7095G>A (p.Leu2365=) rs794727564
NM_032119.4(ADGRV1):c.7176C>T (p.Ser2392=) rs111033452
NM_032119.4(ADGRV1):c.8730+21dup rs60522638
NM_032119.4(ADGRV1):c.8730+9_8730+10del rs780180737
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032415.7(CARD11):c.224G>A (p.Arg75Gln) rs1064795280
NM_032634.4(PIGO):c.1810dup (p.Arg604fs) rs774508288
NM_032856.5(WDR73):c.1132del (p.Arg378fs) rs747109506
NM_032856.5(WDR73):c.1132dup (p.Arg378fs) rs747109506
NM_033056.3(PCDH15):c.4368-13_4368-10dup rs530804327
NM_033056.4(PCDH15):c.4831_4834dup (p.Thr1612fs) rs545191822
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del) rs397517462
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del) rs557936064
NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup) rs397517466
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047
NM_033056.4(PCDH15):c.5630_5633del (p.Arg1877fs) rs794727570
NM_033087.4(ALG2):c.760T>C (p.Leu254=) rs62562374
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033337.3(CAV3):c.10_17del (p.Glu4fs) rs778914298
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) rs28936686
NM_033337.3(CAV3):c.301T>C (p.Trp101Arg) rs199476337
NM_033337.3(CAV3):c.312G>A (p.Val104=) rs794727305
NM_033337.3(CAV3):c.399C>T (p.Phe133=) rs769859957
NM_033337.3(CAV3):c.402G>C (p.Ala134=) rs559206877
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_033641.4(COL4A6):c.1379G>T (p.Arg460Leu) rs34740537
NM_033641.4(COL4A6):c.2685G>T (p.Lys895Asn) rs150454971
NM_052867.4(NALCN):c.4977C>G (p.Asp1659Glu) rs78817184
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del) rs75967604
NM_053025.4(MYLK):c.4289-10_4289-9dup rs41431347
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu) rs376371866
NM_058246.4(DNAJB6):c.271T>G (p.Phe91Val) rs869320701
NM_058246.4(DNAJB6):c.429G>A (p.Ala143=) rs150709673
NM_080680.3(COL11A2):c.1180-4A>G rs1554221961
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln) rs199866657
NM_080680.3(COL11A2):c.2081_2085delinsA (p.Gly694fs) rs886044584
NM_080680.3(COL11A2):c.2584-5del rs555657704
NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=) rs146093235
NM_080680.3(COL11A2):c.4767C>T (p.Asp1589=) rs886044178
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln) rs121908375
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_130837.3(OPA1):c.1364C>T (p.Pro455Leu) rs794727069
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro) rs1553877946
NM_130837.3(OPA1):c.1498C>A (p.Arg500Ser) rs886043340
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del) rs794727173
NM_130837.3(OPA1):c.1755-6dup rs748933560
NM_130837.3(OPA1):c.1935+3A>G rs398124300
NM_130837.3(OPA1):c.2441-4C>G rs763386320
NM_130837.3(OPA1):c.2661+1G>T rs794727392
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs) rs879255560
NM_130837.3(OPA1):c.610+360G>A rs1553872542
NM_130837.3(OPA1):c.610+364G>A rs983041061
NM_130839.5(UBE3A):c.*3CAAAA[1] (p.Ter873=) rs587782926
NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del) rs863225070
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr) rs147145506
NM_133261.3(GIPC3):c.855C>G (p.Ser285=) rs766192644
NM_133378.4(TTN):c.37385_37387delAAG rs759525338
NM_133379.5(TTN):c.12699T>C (p.Ala4233=) rs185931752
NM_133379.5(TTN):c.15313C>A (p.Arg5105=) rs376396183
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.5863-31TA[11] rs10554564
NM_133433.4(NIPBL):c.6322G>A (p.Ala2108Thr) rs587784006
NM_133642.5(LARGE1):c.1452-28C>T rs76647066
NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile) rs576967464
NM_133642.5(LARGE1):c.909T>G (p.Leu303=) rs563144239
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs) rs924232072
NM_138691.3(TMC1):c.238GAA[3] (p.Glu83del) rs376040866
NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=) rs372394177
NM_138694.4(PKHD1):c.10411G>A (p.Val3471Ile) rs553752644
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu) rs76572975
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) rs760426769
NM_138694.4(PKHD1):c.11785+1_11785+35del rs761547193
NM_138694.4(PKHD1):c.12147G>A (p.Glu4049=) rs1561967407
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser) rs141790557
NM_138694.4(PKHD1):c.1978T>C (p.Cys660Arg) rs727504092
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu) rs1057517158
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp) rs794727466
NM_138694.4(PKHD1):c.4257G>A (p.Arg1419=) rs577832997
NM_138694.4(PKHD1):c.449-15TTC[2] rs545812620
NM_138694.4(PKHD1):c.4844C>T (p.Thr1615Met) rs147529495
NM_138694.4(PKHD1):c.5133C>T (p.Ala1711=) rs144841026
NM_138694.4(PKHD1):c.528-17dup rs753686281
NM_138694.4(PKHD1):c.5342C>T (p.Thr1781Ile) rs1554197025
NM_138694.4(PKHD1):c.5372C>T (p.Pro1791Leu) rs886042677
NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA rs1562581286
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.778+10C>G rs1365502451
NM_138694.4(PKHD1):c.8174-18dup rs566540835
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu) rs375145340
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter) rs398124498
NM_138694.4(PKHD1):c.881-1G>A rs1554220431
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=) rs745523374
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu) rs146649803
NM_138735.4(NRXN1):c.49GGC[11] (p.Gly17[11]) rs750165040
NM_138735.4(NRXN1):c.49GGC[7] (p.Gly17[7]) rs750165040
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup) rs398124508
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup) rs387906492
NM_139058.3(ARX):c.306GGC[6] (p.Ala112_Ala115del) rs387906492
NM_139058.3(ARX):c.306GGC[8] (p.Ala114_Ala115del) rs387906492
NM_139058.3(ARX):c.30C>A (p.Cys10Ter) rs794726959
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del) rs398124510
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del) rs764505909
NM_144596.4(TTC8):c.1464G>C (p.Ala488=) rs142073418
NM_144599.5(NIPA1):c.24GGC[10] (p.Ala15_Ala16dup) rs531550505
NM_144599.5(NIPA1):c.24GGC[6] (p.Ala15_Ala16del) rs531550505
NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del) rs531550505
NM_144599.5(NIPA1):c.24GGC[9] (p.Ala16dup) rs531550505
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_144997.7(FLCN):c.1179del (p.Met394fs) rs398124525
NM_144997.7(FLCN):c.1597C>T (p.Gln533Ter) rs398124532
NM_145239.3(PRRT2):c.564G>A (p.Gln188=) rs545201760
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_147127.5(EVC2):c.1711-11_1711-10dup rs35103377
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_147196.3(TMIE):c.367AAG[6] (p.Lys129_Lys131del) rs10578999
NM_152281.3(GORAB):c.420-2A>T rs1558006532
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=) rs34578730
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln) rs727503962
NM_152443.3(RDH12):c.63_66del (p.Ile22fs) rs794729650
NM_152564.5(VPS13B):c.10938C>T (p.Val3646=) rs758028194
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln) rs150272676
NM_152564.5(VPS13B):c.6654A>G (p.Leu2218=) rs1046756662
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_153026.3(PRICKLE1):c.954C>G (p.Ser318=) rs139421676
NM_153240.5(NPHP3):c.1525-5del rs762115717
NM_153240.5(NPHP3):c.171C>A (p.Pro57=) rs778581370
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr) rs139730838
NM_153240.5(NPHP3):c.273del (p.Glu90_Tyr91insTer) rs758558609
NM_153240.5(NPHP3):c.3697-14dup rs564013823
NM_153240.5(NPHP3):c.406del (p.Thr136fs) rs1379989124
NM_153240.5(NPHP3):c.634dup (p.Glu212fs) rs747052534
NM_153240.5(NPHP3):c.974T>C (p.Leu325Pro) rs1560014265
NM_153240.5(NPHP3):c.985T>C (p.Cys329Arg) rs766285779
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln) rs35401386
NM_170699.3(GPBAR1):c.157TTC[1] (p.Phe54del) rs767819043
NM_170699.3(GPBAR1):c.975C>A (p.Val325=) rs202200326
NM_170699.3(GPBAR1):c.975C>T (p.Val325=) rs202200326
NM_170707.4(LMNA):c.1122C>T (p.His374=) rs143715750
NM_170707.4(LMNA):c.1142_1157+1del rs1553265755
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.127G>A (p.Ala43Thr) rs60446065
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1488+1G>A rs267607640
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1599C>T (p.Ser533=) rs886043346
NM_170707.4(LMNA):c.1609-1G>A rs111569862
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.1622G>C (p.Arg541Pro) rs61444459
NM_170707.4(LMNA):c.1827A>T (p.Gly609=) rs1558135172
NM_170707.4(LMNA):c.3G>T (p.Met1Ile) rs794728598
NM_170707.4(LMNA):c.483G>A (p.Glu161=) rs1553264647
NM_170707.4(LMNA):c.618C>G (p.Phe206Leu) rs267607629
NM_170707.4(LMNA):c.694G>A (p.Gly232Arg) rs267607609
NM_170707.4(LMNA):c.73C>G (p.Arg25Gly) rs58327533
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del) rs58978449
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys) rs397517912
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs) rs886041339
NM_172107.4(KCNQ2):c.1503C>T (p.Ala501=) rs1801545
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp) rs28939684
NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile) rs794727741
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg) rs794727813
NM_172245.4(CSF2RA):c.774_780+10dup rs377345813
NM_172364.5(CACNA2D4):c.1239G>A (p.Pro413=) rs201783863
NM_172364.5(CACNA2D4):c.2046C>T (p.Ala682=) rs116214586
NM_173477.5(USH1G):c.1311del (p.Lys438fs) rs886043626
NM_173660.5(DOK7):c.1305C>A (p.Gly435=) rs201894731
NM_173660.5(DOK7):c.1313C>G (p.Thr438Arg) rs376805794
NM_173660.5(DOK7):c.161G>A (p.Arg54His) rs201818140
NM_173660.5(DOK7):c.918C>T (p.Ala306=) rs141947707
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs) rs879255251
NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_Leu23dup) rs35574083
NM_175737.4(KLB):c.2329_2331del (p.Phe777del) rs549659598
NM_175875.5(SIX5):c.1872C>T (p.Pro624=) rs373614429
NM_175875.5(SIX5):c.1943C>T (p.Pro648Leu) rs140816771
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer) rs773139166
NM_178012.5(TUBB2B):c.564G>T (p.Ser188=) rs2259136
NM_178170.3(NEK8):c.133C>T (p.Arg45Trp) rs1567759130
NM_181332.3(NLGN4X):c.115A>G (p.Ile39Val) rs201534650
NM_181332.3(NLGN4X):c.1779C>G (p.Leu593=) rs3747334
NM_181882.3(PRX):c.2787del (p.Lys930fs) rs754521978
NM_182914.3(SYNE2):c.11944A>G (p.Asn3982Asp) rs10137972
NM_182914.3(SYNE2):c.12109-10_12109-7del rs755277543
NM_182914.3(SYNE2):c.20339G>A (p.Arg6780Gln) rs202240664
NM_182914.3(SYNE2):c.2070A>G (p.Leu690=) rs79037871
NM_182961.3(SYNE1):c.23146-7dup rs770820426
NM_182961.4(SYNE1):c.10503A>G (p.Leu3501=) rs1563330296
NM_182961.4(SYNE1):c.1062C>T (p.Phe354=) rs1057523855
NM_182961.4(SYNE1):c.10869C>T (p.Pro3623=) rs1554523565
NM_182961.4(SYNE1):c.11030G>A (p.Cys3677Tyr) rs148028681
NM_182961.4(SYNE1):c.12585G>A (p.Lys4195=) rs149536991
NM_182961.4(SYNE1):c.1290C>T (p.Thr430=) rs755709525
NM_182961.4(SYNE1):c.14106C>T (p.Thr4702=) rs146180064
NM_182961.4(SYNE1):c.1483A>G (p.Thr495Ala) rs200954103
NM_182961.4(SYNE1):c.14955+4G>C rs535755402
NM_182961.4(SYNE1):c.16390-2A>C rs759460806
NM_182961.4(SYNE1):c.16476A>G (p.Gln5492=) rs141380170
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys) rs145899734
NM_182961.4(SYNE1):c.17203-6del rs55633181
NM_182961.4(SYNE1):c.17203-6dup rs55633181
NM_182961.4(SYNE1):c.17203-7_17203-6del rs55633181
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg) rs150376715
NM_182961.4(SYNE1):c.18153C>T (p.Ala6051=) rs201090220
NM_182961.4(SYNE1):c.21639G>A (p.Leu7213=) rs886043685
NM_182961.4(SYNE1):c.21768G>A (p.Gln7256=) rs1554226552
NM_182961.4(SYNE1):c.22709_22763del (p.Glu7570fs) rs1554558620
NM_182961.4(SYNE1):c.23791-6del rs757124573
NM_182961.4(SYNE1):c.23979-7G>C rs376918337
NM_182961.4(SYNE1):c.24723C>T (p.His8241=) rs141586001
NM_182961.4(SYNE1):c.25119+1G>A rs1164612098
NM_182961.4(SYNE1):c.393A>C (p.Leu131=) rs139291592
NM_182961.4(SYNE1):c.4372_4373del (p.Leu1458fs) rs794727577
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=) rs146789107
NM_182961.4(SYNE1):c.581+10A>G rs771573516
NM_182961.4(SYNE1):c.5877A>G (p.Val1959=) rs1057522688
NM_182961.4(SYNE1):c.639del (p.His214fs) rs1412791793
NM_182961.4(SYNE1):c.7620G>A (p.Thr2540=) rs142663488
NM_182961.4(SYNE1):c.7713-5T>C rs893217390
NM_182961.4(SYNE1):c.779-4dup rs567435072
NM_182961.4(SYNE1):c.8310C>T (p.Phe2770=) rs749172868
NM_182961.4(SYNE1):c.9375G>C (p.Leu3125=) rs376622495
NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=) rs6913579
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu) rs149901087
NM_182961.4(SYNE1):c.9897G>A (p.Ala3299=) rs184006845
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg) rs751953459
NM_183050.4(BCKDHB):c.509G>C (p.Arg170Pro) rs371518124
NM_183050.4(BCKDHB):c.51A>C (p.Ala17=) rs376293687
NM_183050.4(BCKDHB):c.951+48C>T rs3749896
NM_194248.3(OTOF):c.1803+7dup rs755835793
NM_194248.3(OTOF):c.51C>T (p.Gly17=) rs142333075
NM_194318.4(B3GLCT):c.71-5del rs398022187
NM_194454.3(KRIT1):c.715C>T (p.Gln239Ter) rs886043300
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198506.5(LRIT3):c.1184CTT[1] (p.Ser396del) rs794727660
NM_198506.5(LRIT3):c.1752_1754del (p.Leu585del) rs145776307
NM_198506.5(LRIT3):c.331C>G (p.Arg111Gly) rs79039619
NM_198525.3(KIF7):c.195G>C (p.Ala65=) rs8179066
NM_198525.3(KIF7):c.2236C>T (p.Arg746Trp) rs141867330
NM_198525.3(KIF7):c.2549G>T (p.Arg850Leu) rs141514601
NM_198525.3(KIF7):c.2719-28CCCT[8] rs3840030
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln) rs142032413
NM_198525.3(KIF7):c.978C>T (p.Val326=) rs555659148
NM_198904.4(GABRG2):c.1113_1115del (p.Lys374del) rs727503941
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201384.3(PLEC):c.1002C>T (p.Ala334=) rs370574829
NM_201384.3(PLEC):c.10296C>A (p.Ala3432=) rs201848957
NM_201384.3(PLEC):c.10612T>C (p.Leu3538=) rs6992333
NM_201384.3(PLEC):c.11573C>T (p.Thr3858Met) rs373863249
NM_201384.3(PLEC):c.11724G>T (p.Ala3908=) rs374595008
NM_201384.3(PLEC):c.1191C>A (p.Ile397=) rs781888321
NM_201384.3(PLEC):c.12243C>T (p.Thr4081=) rs185022156
NM_201384.3(PLEC):c.1245C>G (p.Ala415=) rs782527499
NM_201384.3(PLEC):c.1248C>T (p.Asp416=) rs572481168
NM_201384.3(PLEC):c.1263+7_1263+10delinsCAGTCGGTGAGGCAGCAGTCG rs1064794978
NM_201384.3(PLEC):c.13287C>A (p.Gly4429=) rs782581005
NM_201384.3(PLEC):c.13347G>A (p.Ala4449=) rs368660987
NM_201384.3(PLEC):c.13479G>A (p.Ser4493=) rs781929758
NM_201384.3(PLEC):c.1418+10G>C rs782571969
NM_201384.3(PLEC):c.2178+9C>G rs114256617
NM_201384.3(PLEC):c.2304+9dup rs35671527
NM_201384.3(PLEC):c.2587CAGGAGGCC[1] (p.863QEA[1]) rs786205252
NM_201384.3(PLEC):c.2962G>C (p.Glu988Gln) rs367627441
NM_201384.3(PLEC):c.3375C>G (p.Leu1125=) rs782733038
NM_201384.3(PLEC):c.3745C>A (p.Arg1249=) rs201552166
NM_201384.3(PLEC):c.378T>G (p.Ala126=) rs6993938
NM_201384.3(PLEC):c.4255C>T (p.Gln1419Ter) rs886044836
NM_201384.3(PLEC):c.4598G>A (p.Arg1533Gln) rs201430180
NM_201384.3(PLEC):c.5082G>A (p.Leu1694=) rs182961574
NM_201384.3(PLEC):c.5444G>A (p.Arg1815Gln) rs782213742
NM_201384.3(PLEC):c.5582C>T (p.Ala1861Val) rs200949161
NM_201384.3(PLEC):c.5922G>C (p.Gln1974His) rs202190540
NM_201384.3(PLEC):c.5968G>A (p.Val1990Met) rs201588551
NM_201384.3(PLEC):c.6313_6314delinsAT (p.Ala2105Met) rs886044784
NM_201384.3(PLEC):c.6531G>A (p.Thr2177=) rs782621816
NM_201384.3(PLEC):c.6573G>A (p.Leu2191=) rs1564019780
NM_201384.3(PLEC):c.7370G>C (p.Arg2457Pro) rs199504105
NM_201384.3(PLEC):c.7830G>A (p.Ala2610=) rs376112916
NM_201384.3(PLEC):c.7983C>T (p.Ala2661=) rs376058402
NM_201384.3(PLEC):c.804G>A (p.Val268=) rs1554721745
NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn) rs200814155
NM_201384.3(PLEC):c.8532G>C (p.Ala2844=) rs782732824
NM_201384.3(PLEC):c.9081G>A (p.Ala3027=) rs199758196
NM_201384.3(PLEC):c.9577G>T (p.Gly3193Cys) rs201402970
NM_201525.4(ADGRG1):c.2040C>G (p.Gly680=) rs794727146
NM_201525.4(ADGRG1):c.843C>G (p.Ser281Arg) rs1801257
NM_201548.5(CERKL):c.132G>C (p.Glu44Asp) rs727503857
NM_201548.5(CERKL):c.239-1G>A rs1559100465
NM_203475.3(PORCN):c.1093C>T (p.Arg365Trp) rs398124616
NM_203486.3(DLL3):c.616C>G (p.Pro206Ala) rs376905666
NM_203486.3(DLL3):c.982G>T (p.Val328Phe) rs749513254
NM_206883.2(SLC26A5):c.292+8_292+9dup rs112791865
NM_206933.4(USH2A):c.*4A>G rs530405236
NM_206933.4(USH2A):c.10388-17_10388-7del rs1442627890
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val) rs35309576
NM_206933.4(USH2A):c.1181C>G (p.Pro394Arg) rs775922302
NM_206933.4(USH2A):c.13198G>T (p.Ala4400Ser) rs541022183
NM_206933.4(USH2A):c.15306C>G (p.Ala5102=) rs149506333
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg) rs886043096
NM_206933.4(USH2A):c.1891G>A (p.Asp631Asn) rs552400144
NM_206933.4(USH2A):c.2835C>T (p.Ala945=) rs1311224729
NM_206933.4(USH2A):c.4383A>G (p.Gln1461=) rs978359064
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.5167+1G>T rs794727408
NM_206933.4(USH2A):c.6094C>T (p.Leu2032=) rs1385829693
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg) rs373604102
NM_206933.4(USH2A):c.6711C>A (p.Asp2237Glu) rs138959688
NM_206933.4(USH2A):c.7527G>T (p.Arg2509=) rs575939496
NM_206933.4(USH2A):c.7718G>A (p.Arg2573His) rs189748047
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro) rs398124620
NM_206933.4(USH2A):c.8709C>T (p.Phe2903=) rs397518040
NM_206933.4(USH2A):c.8778G>A (p.Glu2926=) rs374146074
NM_206933.4(USH2A):c.9958+8G>T rs370383574
NM_206965.2(FTCD):c.1366dup (p.Glu456fs) rs777099958
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
NM_207122.2(EXT2):c.520A>C (p.Met174Leu) rs111589746
NM_207346.3(TSEN54):c.1120C>G (p.Arg374Gly) rs201351319
NM_207346.3(TSEN54):c.1120_1122delinsGGC (p.Arg374Gly) rs1555644694
NM_207352.4(CYP4V2):c.1479C>T (p.Asn493=) rs374270799
NM_207361.6(FREM2):c.3035_3040dup (p.Gly1012_Ser1013dup) rs570476408
NM_207361.6(FREM2):c.5954dup (p.Met1985fs) rs886043213
NM_207361.6(FREM2):c.7329T>A (p.Pro2443=) rs1303270704
NM_207361.6(FREM2):c.7520-10_7520-9insCT rs1399473815
NM_213599.3(ANO5):c.1207C>T (p.Gln403Ter) rs1554930267
NM_213599.3(ANO5):c.1222C>T (p.Leu408=) rs997655691
NM_213599.3(ANO5):c.1538C>T (p.Thr513Ile) rs281865467
NM_213599.3(ANO5):c.2236-13_2236-10del rs72105710
NM_213599.3(ANO5):c.2503_2505del (p.Phe835del) rs794727350
NM_213599.3(ANO5):c.2646C>G (p.Asn882Lys) rs34969327
NM_213599.3(ANO5):c.2688C>G (p.Ala896=) rs377549896
NM_213599.3(ANO5):c.295-8dup rs778435515
NM_213599.3(ANO5):c.364-8del rs146983312
NM_213599.3(ANO5):c.879-7_879-6del rs143977836
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe) rs7481951
Single allele

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