ClinVar Miner

Variants from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories:
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
5833 7551 94 5765 2745 226 548 8310

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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 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 1 385 92 10 13 0 2 17 0 1 2 0 12 49
likely pathogenic 267 0 148 3 3 0 1 1 0 0 1 0 2 16
uncertain significance 116 164 12 1177 347 1 0 3 0 0 0 0 2 37
likely benign 15 13 1008 5 1862 1 0 0 1 0 0 0 1 50
benign 26 15 437 3251 76 0 4 1 0 1 0 1 15 10
established risk allele 1 1 1 0 1 0 0 0 0 0 0 0 1 0

Submitter to submitter summary #

Total submitters: 195
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 6849 0 1440 596 1 89 2126
Invitae 0 3782 0 811 506 7 112 1436
CeGaT Center for Human Genetics Tuebingen 0 1970 0 839 278 1 47 1165
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2102 0 672 303 1 57 1033
PreventionGenetics, part of Exact Sciences 0 3711 0 663 331 2 31 1027
Illumina Laboratory Services, Illumina 0 1214 0 492 356 0 20 868
Eurofins Ntd Llc (ga) 0 2155 0 350 377 10 41 778
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1559 0 588 111 1 10 710
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 485 0 636 34 1 2 673
Genetic Services Laboratory, University of Chicago 0 761 0 488 118 2 7 615
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 760 0 499 48 0 9 556
Ambry Genetics 0 1398 0 317 191 0 14 522
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1952 0 287 186 1 21 495
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1161 0 246 183 1 39 469
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1066 0 388 74 0 3 465
Clinical Genetics, Academic Medical Center 0 1513 0 374 64 1 1 440
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1530 0 345 63 1 7 416
Athena Diagnostics Inc 0 1164 0 294 107 0 10 411
Mayo Clinic Laboratories, Mayo Clinic 0 900 0 141 124 0 30 295
OMIM 0 207 0 26 8 184 43 258
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 638 0 178 71 1 8 258
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 235 89 82 75 1 2 249
Fulgent Genetics, Fulgent Genetics 0 496 0 222 13 0 2 237
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 256 0 166 29 1 9 205
Revvity Omics, Revvity 0 884 0 77 88 0 31 196
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 620 0 150 14 1 2 167
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 322 0 120 27 0 3 150
Department of Pathology and Laboratory Medicine, Sinai Health System 0 260 0 55 66 1 16 138
Counsyl 0 96 0 74 6 0 15 95
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 156 0 40 50 1 4 95
Natera, Inc. 0 575 0 61 22 0 3 86
Baylor Genetics 0 195 0 49 5 0 25 79
Genome-Nilou Lab 0 433 0 59 7 0 5 71
Mendelics 0 106 0 33 25 0 8 66
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 314 0 57 7 0 1 65
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 97 0 34 10 1 0 45
Color Diagnostics, LLC DBA Color Health 0 135 0 31 11 0 3 45
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 54 0 12 24 0 1 37
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 6 0 3 6 0 24 33
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 49 0 8 16 0 5 29
Leiden Open Variation Database 0 16 0 26 3 0 0 29
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 55 0 7 6 0 12 25
Blueprint Genetics 0 54 0 10 6 0 8 24
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 52 0 9 12 0 1 22
NIHR Bioresource Rare Diseases, University of Cambridge 0 18 0 15 3 0 4 22
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 0 21 0 16 3 0 3 22
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 34 0 9 8 2 2 21
Myriad Genetics, Inc. 0 51 0 16 2 0 3 21
AiLife Diagnostics, AiLife Diagnostics 0 60 0 13 2 1 3 19
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 39 0 9 2 0 7 18
PharmGKB 0 0 0 0 0 18 0 18
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 29 0 3 15 0 0 18
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 131 0 14 0 0 3 17
CFTR-France 0 13 0 5 0 0 12 17
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 67 0 8 5 1 2 16
CSER _CC_NCGL, University of Washington 0 14 0 4 11 0 1 16
Clinical Genetics and Genomics, Karolinska University Hospital 0 129 0 9 3 0 3 15
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 7 0 3 10 2 0 15
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 18 0 7 4 0 3 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 40 0 4 4 0 5 13
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 32 0 7 5 0 1 13
Genetics and Molecular Pathology, SA Pathology 0 30 0 12 0 0 0 12
MGZ Medical Genetics Center 0 29 0 8 0 0 3 11
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 42 0 4 4 0 3 11
Sema4, Sema4 0 6 0 5 3 0 2 10
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 10 0 0 0 10
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 9 0 9 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 0 26 0 4 4 0 0 8
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 0 18 0 6 1 0 1 8
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 5 2 0 0 7
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 1 3 2 1 0 1 7
SIB Swiss Institute of Bioinformatics 0 8 0 5 2 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 27 0 5 2 0 0 7
Department of Vascular Biology, Beijing Anzhen Hospital 0 0 0 5 1 0 1 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 10 0 3 1 0 3 7
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 1 0 0 5 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 18 0 2 3 0 1 6
Department of Pathology and Molecular Medicine, Queen's University 0 15 0 4 2 0 0 6
Giacomini Lab, University of California, San Francisco 0 5 0 2 1 0 3 6
GeneReviews 0 67 1 1 0 1 2 5
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 0 70 0 5 0 0 0 5
Kariminejad - Najmabadi Pathology & Genetics Center 0 11 0 4 0 0 1 5
Cavalleri Lab, Royal College of Surgeons in Ireland 0 2 0 1 0 0 4 5
Institute of Reproductive Genetics, University of Münster 0 7 0 2 0 0 3 5
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 17 0 5 0 0 0 5
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 67 0 4 1 0 0 5
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 6 0 1 3 0 0 4
King Laboratory, University of Washington 0 3 0 1 3 0 0 4
Division of Human Genetics, Children's Hospital of Philadelphia 0 6 0 1 1 0 2 4
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 2 0 0 2 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 10 0 2 0 0 2 4
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 0 0 0 0 0 0 4 4
Database of Curated Mutations (DoCM) 0 0 0 4 0 0 0 4
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 0 1 0 1 1 0 2 4
Medical Genetics Summaries 0 0 0 0 0 4 0 4
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 5 0 0 3 0 1 4
Gharavi Laboratory, Columbia University 0 14 0 2 0 0 2 4
Institute of Human Genetics, University Hospital Muenster 0 20 0 3 1 0 0 4
3billion 0 22 0 2 1 0 1 4
Genomics England Pilot Project, Genomics England 0 2 0 4 0 0 0 4
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 15 0 0 2 0 1 3
Claritas Genomics 0 6 0 3 0 0 0 3
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 12 0 1 0 0 2 3
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 1 0 3 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 1 2 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 8 0 3 0 0 0 3
Inherited Neuropathy Consortium 0 2 0 0 2 0 1 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 7 0 2 0 0 1 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 7 0 1 1 0 1 3
University of Washington Department of Laboratory Medicine, University of Washington 0 5 0 0 0 1 2 3
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 0 13 0 1 1 0 1 3
Pars Genome Lab 0 25 0 2 1 0 0 3
DASA 0 26 0 3 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 6 0 2 1 0 0 3
Elsea Laboratory, Baylor College of Medicine 0 2 0 0 0 0 2 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 4 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 0 13 0 1 1 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 8 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 0 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 4 0 1 1 0 0 2
Genome Sciences Centre, British Columbia Cancer Agency 0 0 0 2 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 0 1 1 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 3 0 1 0 0 1 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 36 0 2 0 0 0 2
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 1 0 0 0 0 2 2
Dan Cohn Lab, University Of California Los Angeles 0 1 0 1 0 0 1 2
SingHealth Duke-NUS Institute of Precision Medicine 0 2 0 0 1 0 1 2
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 0 0 1 0 1 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 2 0 0 0 2
3DMed Clinical Laboratory Inc 0 3 0 0 2 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 1 0 0 1 2
Johns Hopkins Genomics, Johns Hopkins University 0 18 0 1 0 0 1 2
Klaassen Lab, Charite University Medicine Berlin 0 0 0 1 0 0 1 2
Reproductive Health Research and Development, BGI Genomics 0 7 0 0 2 0 0 2
CZECANCA consortium 0 26 0 0 0 0 2 2
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 0 0 2 0 0 2
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada) 0 3 0 1 0 0 1 2
Paris Brain Institute, Inserm - ICM 0 2 0 0 2 0 0 2
Phenosystems SA 0 0 0 0 1 0 1 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 0 0 1 0 0 1 2
Clinical Biochemistry Laboratory, Health Services Laboratory 0 0 0 0 1 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 2 0 1 0 0 0 1
FirmaLab, FirmaLab 0 0 0 0 0 0 1 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 2 0 1 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 0 1 0 0 0 1
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center 0 0 0 0 1 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 0 1
Eye Genetics Research Group, Children's Medical Research Institute 0 0 0 0 1 0 0 1
GenMed Metabolism Lab 0 1 0 1 0 0 0 1
Molecular Genetics and Enzymology, National Research Centre 0 0 0 0 0 0 1 1
Center for Genetic Medicine Research, Children's National Medical Center 0 0 0 0 1 0 0 1
Pathway Genomics 0 0 0 1 0 0 0 1
Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 0 0 0 0 1 0 0 1
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 0 0 0 1 0 0 0 1
Foundation Medicine, Inc. 0 0 0 0 1 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 1 0 0 0 1
Medical Genetics, University of Parma 0 0 0 0 1 0 0 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 0 1 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 0 0 0 0 1 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 3 0 0 0 0 1 1
Undiagnosed Diseases Network, NIH 0 5 0 0 1 0 0 1
Phosphorus, Inc. 0 6 0 1 0 0 0 1
Endocrine oncology group, Uppsala University 0 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 2 0 1 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 0 0 0 1 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 0 0 1 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 1 1
Department of Genetic, Henri Mondor Hospital, Assistance Publique des Hôpitaux de Paris 0 1 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 2 0 1 0 0 0 1
ClinGen Hearing Loss Variant Curation Expert Panel 0 0 0 0 0 0 1 1
Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo 0 0 0 1 0 0 0 1
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University 0 0 0 0 0 0 1 1
University of Iowa Renal Genetics Clinic, University of Iowa 0 0 0 0 1 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 1 0 0 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 2 0 1 0 0 0 1
Department of Haematogenetics, ICMR National Institute of Immunohaematology 0 0 0 0 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 5 0 1 0 0 0 1
Swedish Neurofibromatosis Center, Swedish Medical Center 0 0 0 0 0 0 1 1
Robert's Program, Boston Children's Hospital 0 2 0 1 0 0 0 1
New York Genome Center 0 17 0 0 1 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 4 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 4 0 0 0 0 1 1
Lifecell International Pvt. Ltd 0 5 0 1 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 2 0 1 0 0 0 1
Suma Genomics 0 4 0 0 0 0 1 1
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 8 0 0 1 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 1 0 0 1 0 0 1
Clinical Genomics Labs, University Health Network 0 0 0 0 0 0 1 1
Eurofins-Biomnis 0 1 0 0 0 0 1 1
Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University 0 1 0 0 0 0 1 1
Arcensus 0 1 0 1 0 0 0 1
Biology Molecular and Stem Cell Facilities Laboratory, National Cardiovascular Center, Harapan Kita Hospital 0 0 0 0 0 0 1 1
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen 0 6 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 8310
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) rs1169305 0.98610
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598 0.98511
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val) rs3027238 0.94552
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys) rs425876 0.92861
NM_032119.4(ADGRV1):c.18625-7T>C rs7726023 0.91136
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_017780.4(CHD7):c.2238+39G>A rs4540437 0.83608
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552 0.82099
NM_004360.5(CDH1):c.48+6C>T rs3743674 0.80384
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val) rs3826543 0.77529
NM_017780.4(CHD7):c.1665+34G>A rs7836586 0.76770
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=) rs1139405 0.75861
NM_004168.4(SDHA):c.891T>C (p.Pro297=) rs1126417 0.74998
NM_014336.5(AIPL1):c.651A>G (p.Pro217=) rs2292546 0.73525
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) rs12623957 0.72397
NM_000552.5(VWF):c.4641T>C (p.Thr1547=) rs216310 0.71518
NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala) rs216311 0.71493
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) rs1046316 0.70506
NM_001999.4(FBN2):c.5675-9C>T rs27713 0.68788
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_000546.6(TP53):c.74+38C>G rs1642785 0.66254
NM_032444.4(SLX4):c.4500T>C (p.Asn1500=) rs3810812 0.63612
NM_006005.3(WFS1):c.461-9A>G rs10010131 0.63169
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_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764 0.61453
NM_000243.3(MEFV):c.942C>T (p.Arg314=) rs224213 0.61317
NM_014336.5(AIPL1):c.300A>G (p.Leu100=) rs8075035 0.60839
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) rs1046314 0.57941
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) rs213950 0.56732
NM_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206 0.56648
NM_001072.4(UGT1A6):c.862-10021T>G rs4124874 0.56024
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086 0.55793
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
NM_000552.5(VWF):c.1451A>G (p.His484Arg) rs1800378 0.51348
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_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.48544
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030 0.47208
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775 0.45330
NM_174936.4(PCSK9):c.658-7C>T rs2483205 0.45035
NM_000492.4(CFTR):c.2562T>G (p.Thr854=) rs1042077 0.44737
NM_001355436.2(SPTB):c.2154A>C (p.Ile718=) rs229591 0.44391
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=) rs1050162 0.44262
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=) rs1050163 0.44235
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312 0.43085
NM_001355436.2(SPTB):c.1316G>A (p.Ser439Asn) rs229587 0.42630
NM_000552.5(VWF):c.1548T>C (p.Tyr516=) rs1800379 0.41956
NM_001355436.2(SPTB):c.300+7T>C rs229581 0.41899
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=) rs1138465 0.41848
NM_000249.4(MLH1):c.1668-19A>G rs9876116 0.41821
NM_001355436.2(SPTB):c.4860T>C (p.Ile1620=) rs229592 0.41773
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_000552.5(VWF):c.2365A>G (p.Thr789Ala) rs1063856 0.40814
NM_000552.5(VWF):c.2385T>C (p.Tyr795=) rs1063857 0.40791
NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010 0.40719
NM_001355436.2(SPTB):c.4293A>G (p.Arg1431=) rs1626923 0.40570
NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=) rs767455 0.39963
NM_000243.3(MEFV):c.1760-30T>A rs1231123 0.39404
NM_001371279.1(REEP1):c.285G>A (p.Thr95=) rs2276625 0.39011
NM_001355436.2(SPTB):c.3451A>G (p.Asn1151Asp) rs77806 0.38794
NM_000384.3(APOB):c.7545C>T (p.Thr2515=) rs693 0.38722
NM_001065.4(TNFRSF1A):c.625+10A>G rs1800693 0.38055
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321 0.37107
NM_001355436.2(SPTB):c.876+5A>G rs230703 0.36832
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748 0.35806
NM_033337.3(CAV3):c.99C>T (p.Asn33=) rs1008642 0.35756
NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=) rs2301629 0.34968
NM_001355436.2(SPTB):c.4476T>C (p.Leu1492=) rs1741487 0.34432
NM_001355436.2(SPTB):c.4482G>A (p.Val1494=) rs1741488 0.34424
NM_001355436.2(SPTB):c.4641G>A (p.Ala1547=) rs184528 0.34399
NM_019076.5(UGT1A8):c.855+63319T>G rs7586110 0.34319
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990 0.33516
NM_181523.3(PIK3R1):c.334+14A>C rs706714 0.31124
NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=) rs706713 0.31073
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683 0.30966
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_000548.5(TSC2):c.5161-10A>C rs1800718 0.30182
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=) rs16869042 0.30112
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.27385
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr) rs1043424 0.27338
NM_001608.4(ACADL):c.997A>C (p.Lys333Gln) rs2286963 0.27207
NM_001395413.1(POR):c.1499C>T (p.Ala500Val) rs1057868 0.26722
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) rs3219489 0.26720
NM_004168.4(SDHA):c.1932G>A (p.Val644=) rs6961 0.26598
NM_004168.4(SDHA):c.1038C>G (p.Ser346=) rs1041949 0.26134
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831 0.25928
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_003126.4(SPTA1):c.6531-12C>T rs28525570 0.25447
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515 0.25425
NM_004168.4(SDHA):c.619A>C (p.Arg207=) rs6555055 0.25190
NM_004168.4(SDHA):c.1752A>G (p.Ala584=) rs13070 0.25187
NM_004168.4(SDHA):c.684T>C (p.Asn228=) rs2115272 0.25174
NM_004168.4(SDHA):c.309A>G (p.Ala103=) rs1139424 0.25161
NM_004168.4(SDHA):c.1680G>A (p.Thr560=) rs1139449 0.25156
NM_001355436.2(SPTB):c.1269G>A (p.Leu423=) rs229586 0.25102
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
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_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136 0.23407
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_002633.3(PGM1):c.661C>T (p.Arg221Cys) rs1126728 0.22903
NM_177438.3(DICER1):c.1907+105C>T rs2275182 0.22841
NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile) rs3730089 0.22679
NM_000133.4(F9):c.580A>G (p.Thr194Ala) rs6048 0.22614
NM_032444.4(SLX4):c.753G>A (p.Ala251=) rs8061528 0.21914
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) rs1805087 0.21137
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) rs224222 0.20976
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_020975.6(RET):c.337+9G>A rs2435351 0.20641
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
NM_032444.4(SLX4):c.3365C>T (p.Pro1122Leu) rs714181 0.20566
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857 0.20473
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580 0.19586
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_145861.4(EDARADD):c.369C>T (p.Asp123=) rs604070 0.18581
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_170707.4(LMNA):c.1157+16G>A rs534807 0.18318
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile) rs6962 0.18133
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_001355436.2(SPTB):c.6023-8C>T rs56181906 0.17449
NM_053025.4(MYLK):c.62C>A (p.Pro21His) rs28497577 0.17349
NM_001355436.2(SPTB):c.6269+13C>T rs11622977 0.17268
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218 0.17165
NM_001355436.2(SPTB):c.5799-7C>T rs7142689 0.17051
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16640
NM_000455.5(STK11):c.920+7G>C rs2075607 0.16357
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15974
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly) rs11558492 0.15938
NM_053025.4(MYLK):c.782T>C (p.Val261Ala) rs3796164 0.15515
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_025099.6(CTC1):c.990C>T (p.Asp330=) rs74506939 0.15238
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) rs2234962 0.14532
NM_001999.4(FBN2):c.111G>A (p.Pro37=) rs55715053 0.14249
NM_001114753.3(ENG):c.207G>A (p.Leu69=) rs11545664 0.14184
NM_206937.2(LIG4):c.1704T>C (p.Asp568=) rs1805386 0.13864
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_000535.7(PMS2):c.1621= (p.Lys541=) rs2228006 0.13518
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_000350.3(ABCA4):c.6282+7G>A rs17110761 0.13306
NM_000179.3(MSH6):c.260+22C>G rs55927047 0.13136
NM_000548.5(TSC2):c.482-3C>T rs1800720 0.12927
NM_001042492.3(NF1):c.6642+45T>A rs17883614 0.12771
NM_001148.6(ANK2):c.7106T>C (p.Val2369Ala) rs28377576 0.12654
NM_000435.3(NOTCH3):c.5526T>C (p.Ala1842=) rs16980398 0.12317
NM_003001.5(SDHC):c.77+32A>T rs77828459 0.12254
NM_003002.4(SDHD):c.315-32T>C rs4151637 0.11444
NM_003002.4(SDHD):c.170-29A>G rs9919624 0.11431
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552 0.11428
NM_000431.4(MVK):c.155G>A (p.Ser52Asn) rs7957619 0.11415
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_001370259.2(MEN1):c.1621= (p.Thr541=) rs2959656 0.10623
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287 0.10581
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793 0.10553
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976 0.10508
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385 0.10476
NM_004168.4(SDHA):c.1170C>T (p.Phe390=) rs35277230 0.10356
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402 0.09880
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831 0.09402
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) rs11479 0.09354
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly) rs3729856 0.09064
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_004985.5(KRAS):c.451-9G>A rs12313763 0.08467
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_000435.3(NOTCH3):c.3547G>A (p.Val1183Met) rs10408676 0.08167
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626 0.08017
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034 0.07860
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_032444.4(SLX4):c.2012T>C (p.Leu671Ser) rs77985244 0.07388
NM_003476.5(CSRP3):c.336G>A (p.Ala112=) rs13451 0.07238
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_032444.4(SLX4):c.610C>T (p.Arg204Cys) rs79842542 0.07023
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg) rs28711516 0.06950
NM_006005.3(WFS1):c.2322G>A (p.Lys774=) rs2230721 0.06809
NM_001114753.3(ENG):c.1029C>T (p.Thr343=) rs3739817 0.06792
NM_203486.3(DLL3):c.425T>A (p.Leu142Gln) rs55741253 0.06752
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_001355436.2(SPTB):c.4208G>A (p.Arg1403Gln) rs17180350 0.06645
NM_004329.3(BMPR1A):c.431-26T>A rs7920259 0.06507
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_032444.4(SLX4):c.1371T>G (p.Asn457Lys) rs74319927 0.06397
NM_032444.4(SLX4):c.1152A>G (p.Pro384=) rs112511042 0.06386
NM_032444.4(SLX4):c.1156A>G (p.Met386Val) rs113490934 0.06384
NM_002529.4(NTRK1):c.1806-4del rs1799770 0.06316
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile) rs5743291 0.06122
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801 0.06070
NM_001355436.2(SPTB):c.4003-12T>C rs78707026 0.06057
NM_001355436.2(SPTB):c.408C>T (p.His136=) rs11623956 0.06031
NM_001355436.2(SPTB):c.4222G>C (p.Gly1408Arg) rs17245552 0.06024
NM_001379180.1(ESRRB):c.1219C>T (p.Pro407Ser) rs61742642 0.06008
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_001355436.2(SPTB):c.4818C>T (p.Tyr1606=) rs4899145 0.05960
NM_001355436.2(SPTB):c.4564-4G>A rs4902312 0.05860
NM_001355436.2(SPTB):c.4779A>G (p.Ala1593=) rs4902310 0.05857
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374 0.05837
NM_001355436.2(SPTB):c.4752C>T (p.Asn1584=) rs4902311 0.05828
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
NM_001355436.2(SPTB):c.5535C>T (p.Leu1845=) rs17180252 0.05745
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323 0.05742
NM_001142864.4(PIEZO1):c.2991+12A>G rs112680298 0.05710
NM_052945.4(TNFRSF13C):c.62C>G (p.Pro21Arg) rs77874543 0.05538
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=) rs1064822 0.05512
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092 0.05306
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=) rs41317939 0.05124
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036 0.05002
NM_006005.3(WFS1):c.1367G>A (p.Arg456His) rs1801208 0.04977
NM_032444.4(SLX4):c.555C>T (p.Asp185=) rs74640850 0.04956
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239 0.04939
NM_032444.4(SLX4):c.3662C>T (p.Ala1221Val) rs3827530 0.04930
NM_032444.4(SLX4):c.678C>T (p.His226=) rs28516461 0.04916
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042 0.04830
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) rs3219484 0.04794
NM_001143992.2(WRAP53):c.1308T>C (p.Ala436=) rs34016213 0.04793
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200 0.04760
NM_032444.4(SLX4):c.3812C>T (p.Ser1271Phe) rs3810813 0.04718
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_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405 0.04656
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405 0.04608
NM_000112.4(SLC26A2):c.*1892dup rs148778566 0.04587
NM_001146079.2(CLDN14):c.11C>T (p.Thr4Met) rs113831133 0.04508
NM_004615.4(TSPAN7):c.237T>C (p.Ala79=) rs7049247 0.04476
NM_001355436.2(SPTB):c.177C>T (p.Thr59=) rs2277503 0.04465
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_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile) rs41309927 0.04225
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val) rs77469944 0.04185
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374 0.04175
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359 0.04130
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_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893 0.04049
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) rs112723255 0.04015
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129 0.04009
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976 0.03996
NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala) rs16967510 0.03954
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_001035.3(RYR2):c.13564-41A>G rs114289907 0.03849
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334 0.03832
NM_015512.5(DNAH1):c.11230C>T (p.Arg3744Cys) rs419752 0.03813
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862 0.03791
NM_001753.5(CAV1):c.156C>T (p.Val52=) rs10029 0.03703
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_001142864.4(PIEZO1):c.1013C>A (p.Ser338Tyr) rs112081600 0.03693
NM_015512.5(DNAH1):c.1321G>C (p.Val441Leu) rs13060192 0.03637
NM_001114753.3(ENG):c.1060C>T (p.Leu354=) rs36092484 0.03618
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_017668.3(NDE1):c.948-5739G>A rs34839877 0.03595
NM_001267550.2(TTN):c.48996G>A (p.Glu16332=) rs72677244 0.03561
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_001159287.1(TPI1):c.66G>A (p.Pro22=) rs1800201 0.03488
NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly) rs12406479 0.03481
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser) rs3742030 0.03470
NM_001355436.2(SPTB):c.4121A>G (p.His1374Arg) rs10132778 0.03447
NM_012452.3(TNFRSF13B):c.291T>G (p.Pro97=) rs35062843 0.03423
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp) rs35948326 0.03419
NM_032444.4(SLX4):c.3162G>A (p.Ser1054=) rs76488917 0.03405
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=) rs2230036 0.03373
NM_004360.5(CDH1):c.48+5C>G rs77312180 0.03370
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr) rs45598239 0.03352
NM_005529.7(HSPG2):c.3744-65C>T rs34855688 0.03328
NM_000257.4(MYH7):c.1605A>G (p.Glu535=) rs2069543 0.03319
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_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419 0.03262
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_177965.4(CFAP418):c.55C>G (p.Pro19Ala) rs36096184 0.03219
NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=) rs35594075 0.03203
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017 0.03176
NM_000435.3(NOTCH3):c.6438G>A (p.Ala2146=) rs1044008 0.03162
NM_001379610.1(SPINK1):c.194+90A>T rs112569673 0.03151
NM_012330.4(KAT6B):c.4495G>A (p.Val1499Ile) rs3740321 0.03151
NM_000142.5(FGFR3):c.588C>T (p.Arg196=) rs2305180 0.03125
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_001243156.2(TAF1C):c.*1082A>G rs2288024 0.03108
NM_032119.4(ADGRV1):c.13232-7A>G rs2438358 0.03097
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_001142864.4(PIEZO1):c.3456-11C>T rs77276858 0.03009
NM_002474.3(MYH11):c.792T>C (p.Tyr264=) rs34341838 0.03006
NM_014009.4(FOXP3):c.543C>T (p.Ser181=) rs2232367 0.03006
NM_002693.3(POLG):c.2958C>T (p.Tyr986=) rs2307431 0.02985
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02968
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) rs2066844 0.02936
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_002661.5(PLCG2):c.2054+7G>A rs138158454 0.02918
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_001267550.2(TTN):c.32393-12A>G rs16866434 0.02884
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_001114134.2(EPB42):c.10+19C>T rs77809780 0.02853
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys) rs80109666 0.02845
NM_181523.3(PIK3R1):c.621T>C (p.Ile207=) rs61749601 0.02836
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_000135.4(FANCA):c.3348+18A>G rs1800347 0.02828
NM_002234.4(KCNA5):c.381C>T (p.Ser127=) rs45504599 0.02823
NM_001377.3(DYNC2H1):c.9353+7G>A rs78309870 0.02821
NM_033100.4(CDHR1):c.728C>T (p.Ala243Val) rs7086200 0.02804
NM_033100.4(CDHR1):c.486G>C (p.Arg162Ser) rs74145715 0.02792
NM_000074.2(CD40LG):c.-191A>C rs36206512 0.02791
NM_001018115.3(FANCD2):c.2124T>C (p.Phe708=) rs9809716 0.02768
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp) rs1800273 0.02767
NM_013296.5(GPSM2):c.828A>G (p.Lys276=) rs338489 0.02763
NM_194248.3(OTOF):c.158C>T (p.Ala53Val) rs1879761 0.02762
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_178452.6(DNAAF1):c.1303G>A (p.Asp435Asn) rs149158199 0.02715
NM_000435.3(NOTCH3):c.6221C>T (p.Pro2074Leu) rs114447350 0.02709
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_021625.5(TRPV4):c.2459-9T>G rs115373018 0.02700
NM_005257.6(GATA6):c.851C>G (p.Ala284Gly) rs185325359 0.02672
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr) rs115532916 0.02662
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671 0.02649
NM_002633.3(PGM1):c.399T>C (p.Ile133=) rs1126727 0.02624
NM_002661.5(PLCG2):c.770A>T (p.His257Leu) rs45443101 0.02615
NM_001083603.1(PTCH1):c.163G>C (p.Asp55His) rs73527759 0.02608
NM_004415.4(DSP):c.1903+7T>C rs28763962 0.02605
NM_000455.5(STK11):c.816C>T (p.Tyr272=) rs9282859 0.02603
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_000321.3(RB1):c.1216-29A>G rs3092886 0.02593
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072 0.02574
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818 0.02573
NM_004006.3(DMD):c.2623-11C>G rs1028360 0.02567
NM_021625.5(TRPV4):c.81T>C (p.Gly27=) rs34599967 0.02557
NM_024334.3(TMEM43):c.163-14C>T rs113745859 0.02553
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=) rs12008807 0.02548
NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=) rs61749020 0.02545
NM_001035.3(RYR2):c.8437-7dup rs148246251 0.02544
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) rs45516100 0.02529
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02522
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_014249.4(NR2E3):c.488T>C (p.Met163Thr) rs1805021 0.02481
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961 0.02475
NM_001143992.2(WRAP53):c.31C>T (p.Pro11Ser) rs17880282 0.02475
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315 0.02463
NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr) rs7908490 0.02441
NM_000441.2(SLC26A4):c.1708-18T>A rs55701254 0.02432
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768 0.02431
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=) rs28763943 0.02427
NM_003482.4(KMT2D):c.248G>A (p.Arg83Gln) rs55865069 0.02422
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040 0.02403
NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp) rs61735268 0.02395
NM_000540.3(RYR1):c.1577-6C>G rs61586345 0.02394
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_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=) rs61004744 0.02387
NM_001142864.4(PIEZO1):c.588G>T (p.Leu196=) rs142099589 0.02381
NM_032119.4(ADGRV1):c.327C>T (p.Asp109=) rs61753944 0.02377
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His) rs72648970 0.02369
NM_001148.6(ANK2):c.3796+18G>A rs66792339 0.02360
NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln) rs73175207 0.02358
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=) rs73036398 0.02352
NM_001035.3(RYR2):c.9449+8T>A rs60777199 0.02348
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_003060.4(SLC22A5):c.1645C>T (p.Pro549Ser) rs11568525 0.02345
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe) rs10040427 0.02340
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr) rs41311343 0.02332
NM_001378964.1(CDON):c.1851+14G>A rs113328989 0.02329
NM_133379.5(TTN):c.13476C>T (p.Asp4492=) rs72648904 0.02326
NM_000138.5(FBN1):c.7819+8A>C rs363838 0.02324
NM_001110556.2(FLNA):c.1968C>T (p.Leu656=) rs73638274 0.02319
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NC_000012.12:g.6125718G>A rs151088025 0.02305
NM_001999.4(FBN2):c.2555-184T>G rs62375019 0.02297
NM_032444.4(SLX4):c.3783G>A (p.Pro1261=) rs77699867 0.02290
NM_001204.7(BMPR2):c.2324G>A (p.Ser775Asn) rs2228545 0.02286
NM_000142.5(FGFR3):c.615+8C>G rs17878375 0.02283
NM_032444.4(SLX4):c.4581G>A (p.Pro1527=) rs78635099 0.02283
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_001365536.1(SCN9A):c.3802-8T>C rs76550960 0.02262
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367 0.02254
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817 0.02253
NM_005257.6(GATA6):c.43G>C (p.Gly15Arg) rs116262672 0.02238
NM_015340.4(LARS2):c.972C>A (p.His324Gln) rs71645922 0.02237
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys) rs111033430 0.02235
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373 0.02216
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299 0.02215
NM_000552.5(VWF):c.7997C>T (p.Thr2666Met) rs78353028 0.02215
NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln) rs74401238 0.02210
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_170707.4(LMNA):c.1158-43A>G rs16837198 0.02198
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys) rs1140064 0.02197
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521 0.02188
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_001256317.3(TMPRSS3):c.432A>G (p.Gln144=) rs61731564 0.02161
NM_001267550.2(TTN):c.15717G>A (p.Thr5239=) rs72648932 0.02158
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_145861.4(EDARADD):c.308C>T (p.Ser103Phe) rs114632254 0.02153
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=) rs35445420 0.02143
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg) rs2228456 0.02135
NM_000222.3(KIT):c.2394C>T (p.Ile798=) rs55789615 0.02125
NM_001430.5(EPAS1):c.1035-15T>C rs116510029 0.02125
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508 0.02125
NM_004006.3(DMD):c.4878G>T (p.Val1626=) rs61733574 0.02120
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=) rs28730712 0.02116
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=) rs56034831 0.02114
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_001267550.2(TTN):c.12117C>T (p.Pro4039=) rs55895721 0.02109
NM_015046.7(SETX):c.498+20G>A rs73659013 0.02106
NM_020433.5(JPH2):c.1289-7C>T rs116986535 0.02105
NM_000144.5(FXN):c.-7G>A rs145006100 0.02101
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys) rs16990264 0.02084
NM_016239.4(MYO15A):c.2462A>C (p.Gln821Pro) rs372125621 0.02081
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129 0.02065
NM_016938.5(EFEMP2):c.-113C>T rs188624478 0.02060
NM_001384474.1(LOXHD1):c.966G>C (p.Gly322=) rs114082868 0.02057
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly) rs72648982 0.02056
NM_006231.4(POLE):c.4290+5C>T rs5744936 0.02053
NM_000292.3(PHKA2):c.112G>C (p.Glu38Gln) rs17313469 0.02052
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_000142.5(FGFR3):c.1076-17C>T rs17881967 0.02051
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) rs111840875 0.02050
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_000180.4(GUCY2D):c.3225-7C>T rs79887212 0.02045
NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=) rs79391751 0.02044
NM_000180.4(GUCY2D):c.3297G>A (p.Pro1099=) rs142351773 0.02033
NM_032119.4(ADGRV1):c.581C>A (p.Pro194His) rs61745498 0.02028
NM_002485.5(NBN):c.2082T>G (p.Pro694=) rs7823648 0.02020
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met) rs41312104 0.02014
NM_001267550.2(TTN):c.86811A>G (p.Val28937=) rs55972010 0.02012
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_001267550.2(TTN):c.92901C>T (p.Ser30967=) rs11694623 0.01999
NM_001267550.2(TTN):c.87669T>C (p.His29223=) rs72648229 0.01997
NM_001035.3(RYR2):c.11557+19C>T rs113408406 0.01994
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212 0.01991
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.95553C>T (p.Ser31851=) rs72648260 0.01980
NM_001040108.2(MLH3):c.666G>A (p.Lys222=) rs28756980 0.01977
NM_001244008.2(KIF1A):c.393C>T (p.Asn131=) rs35139906 0.01973
NM_032119.4(ADGRV1):c.7576A>G (p.Ile2526Val) rs75191159 0.01965
NM_001365951.3(KIF1B):c.608+8dup rs139613776 0.01962
NM_001365951.3(KIF1B):c.2115+6360G>T rs41274458 0.01961
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129 0.01960
NM_001365951.3(KIF1B):c.2115+6753A>G rs41274462 0.01960
NM_000180.4(GUCY2D):c.1119G>A (p.Val373=) rs56034424 0.01951
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369 0.01950
NM_000384.3(APOB):c.9004C>T (p.Leu3002=) rs12713600 0.01938
NM_022489.4(INF2):c.3478G>A (p.Gly1160Ser) rs9672065 0.01930
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser) rs72650006 0.01917
NM_001844.5(COL2A1):c.610-7G>A rs7967258 0.01915
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_133379.5(TTN):c.13869T>G (p.Ser4623=) rs72648906 0.01910
NM_032638.5(GATA2):c.1233G>A (p.Ala411=) rs34172218 0.01909
NM_005529.7(HSPG2):c.6114C>G (p.Ile2038Met) rs116788687 0.01908
NM_016239.4(MYO15A):c.4533C>T (p.Ala1511=) rs114328138 0.01906
NM_001355436.2(SPTB):c.666T>C (p.Phe222=) rs17102119 0.01896
NM_001040108.2(MLH3):c.4242+13C>G rs77157930 0.01890
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_001105206.3(LAMA4):c.4173T>C (p.Tyr1391=) rs35042032 0.01889
NM_000302.4(PLOD1):c.540G>A (p.Gln180=) rs35958757 0.01887
NM_001142864.4(PIEZO1):c.4385G>A (p.Arg1462Gln) rs188337046 0.01884
NM_003998.4(NFKB1):c.1519A>G (p.Met507Val) rs4648072 0.01884
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu) rs2229792 0.01881
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=) rs72648983 0.01872
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01865
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=) rs28763946 0.01862
NM_000168.6(GLI3):c.2835G>C (p.Leu945=) rs61758978 0.01858
NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=) rs45519733 0.01857
NM_004082.5(DCTN1):c.2448A>G (p.Ala816=) rs1130484 0.01851
NM_014391.3(ANKRD1):c.346-15T>A rs11595794 0.01849
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_000517.6(HBA2):c.300+55T>G rs2362746 0.01848
NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro) rs117203086 0.01848
NM_001430.5(EPAS1):c.2511C>T (p.Pro837=) rs35795449 0.01843
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01840
NM_032578.4(MYPN):c.2410G>A (p.Gly804Arg) rs62620248 0.01839
NM_019594.4(LRRC8A):c.1458C>T (p.Pro486=) rs11999276 0.01838
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_001267550.2(TTN):c.45206A>T (p.Glu15069Val) rs114331773 0.01832
NM_001267550.2(TTN):c.49648+16T>C rs57677875 0.01831
NM_025132.4(WDR19):c.1357-10T>C rs16995189 0.01827
NM_015512.5(DNAH1):c.4531G>A (p.Val1511Met) rs61734638 0.01825
NM_001114134.2(EPB42):c.654+7G>A rs72721553 0.01821
NM_001134363.3(RBM20):c.1914G>A (p.Pro638=) rs74339620 0.01800
NM_001267550.2(TTN):c.10850C>T (p.Ser3617Phe) rs57389274 0.01798
NM_001244008.2(KIF1A):c.3282C>T (p.His1094=) rs35664935 0.01793
NM_001244008.2(KIF1A):c.1503A>G (p.Pro501=) rs35663732 0.01790
NM_001267550.2(TTN):c.542G>A (p.Ser181Asn) rs72647843 0.01782
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe) rs2163649 0.01776
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu) rs34071195 0.01772
NM_213599.3(ANO5):c.2259A>G (p.Ser753=) rs61746201 0.01772
NM_000138.5(FBN1):c.443-35A>G rs116842662 0.01770
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_000316.3(PTH1R):c.1636G>A (p.Glu546Lys) rs77048718 0.01765
NM_001267550.2(TTN):c.22611T>C (p.His7537=) rs16866469 0.01765
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701 0.01764
NM_177438.3(DICER1):c.2997T>G (p.Leu999=) rs12018992 0.01764
NM_018368.4(LMBRD1):c.980+11T>C rs114726590 0.01756
NM_017636.4(TRPM4):c.3641-19C>G rs7256050 0.01753
NM_000142.5(FGFR3):c.348C>T (p.Arg116=) rs2305179 0.01752
NM_001081.4(CUBN):c.2571C>T (p.Asn857=) rs17432826 0.01751
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_001184.4(ATR):c.946G>A (p.Val316Ile) rs28897764 0.01744
NM_001035.3(RYR2):c.14421C>T (p.Asp4807=) rs75206601 0.01733
NR_001566.1(TERC):n.58G>A rs113487931 0.01733
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser) rs78558135 0.01732
NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe) rs34973695 0.01729
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile) rs56027402 0.01724
NM_133379.5(TTN):c.13165G>A (p.Val4389Ile) rs72648903 0.01724
NM_000245.4(MET):c.1124A>G (p.Asn375Ser) rs33917957 0.01723
NM_003476.5(CSRP3):c.312C>G (p.Thr104=) rs45582433 0.01721
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925 0.01714
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962 0.01709
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995 0.01693
NM_001384474.1(LOXHD1):c.2370C>T (p.Asp790=) rs34723936 0.01692
NM_001377.3(DYNC2H1):c.645A>G (p.Leu215=) rs116666272 0.01688
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851 0.01678
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_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_001369.3(DNAH5):c.2683G>A (p.Glu895Lys) rs76229167 0.01663
NM_000142.5(FGFR3):c.1075+5C>T rs3135885 0.01659
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys) rs72648987 0.01656
NM_033100.4(CDHR1):c.1515C>T (p.Gly505=) rs116594644 0.01656
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01651
NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser) rs114376238 0.01651
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val) rs72648954 0.01649
NM_001184.4(ATR):c.2875G>A (p.Val959Met) rs28910271 0.01643
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957 0.01643
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_015512.5(DNAH1):c.7569C>T (p.Ser2523=) rs73072968 0.01641
NM_003200.5(TCF3):c.592A>G (p.Thr198Ala) rs11879402 0.01640
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) rs17853166 0.01640
NM_004360.5(CDH1):c.2634C>T (p.Gly878=) rs2229044 0.01638
NM_001105206.3(LAMA4):c.196-12T>C rs78871662 0.01634
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val) rs56376197 0.01633
NM_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808 0.01628
NM_001081.4(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534 0.01626
NM_016239.4(MYO15A):c.9708G>A (p.Val3236=) rs115393178 0.01622
NM_001145809.2(MYH14):c.483G>A (p.Met161Ile) rs34773557 0.01615
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_000311.5(PRNP):c.512A>G (p.Asn171Ser) rs16990018 0.01612
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe) rs33917087 0.01611
NM_000021.4(PSEN1):c.1248+8T>C rs362382 0.01609
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=) rs79656636 0.01606
NM_000089.4(COL1A2):c.70+719_70+720del rs201691876 0.01601
NM_004304.5(ALK):c.2039C>T (p.Thr680Ile) rs35228363 0.01598
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=) rs142518033 0.01592
NM_001010892.3(RSPH4A):c.731G>A (p.Arg244His) rs41289942 0.01592
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407 0.01591
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01591
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=) rs75858380 0.01586
NM_012452.3(TNFRSF13B):c.659T>C (p.Val220Ala) rs56063729 0.01586
NM_000069.3(CACNA1S):c.3525+18C>T rs56021911 0.01583
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920 0.01583
NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=) rs118191062 0.01583
NM_001009944.3(PKD1):c.9669G>A (p.Thr3223=) rs144817614 0.01582
NM_002500.5(NEUROD1):c.590C>A (p.Pro197His) rs8192556 0.01580
NM_001267550.2(TTN):c.62178T>C (p.Thr20726=) rs72646847 0.01577
NM_021939.4(FKBP10):c.1400-4C>G rs114199361 0.01571
NM_001377.3(DYNC2H1):c.10327-53A>G rs116174151 0.01569
NM_001377.3(DYNC2H1):c.10461A>G (p.Gln3487=) rs75143468 0.01568
NM_000264.5(PTCH1):c.318C>T (p.Leu106=) rs1805153 0.01567
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_000435.3(NOTCH3):c.3399C>A (p.His1133Gln) rs112197217 0.01566
NM_001614.5(ACTG1):c.729C>T (p.Pro243=) rs2230159 0.01563
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) rs72647875 0.01559
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250 0.01555
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser) rs77121899 0.01555
NM_007078.3(LDB3):c.609G>A (p.Ser203=) rs45531131 0.01554
NM_003200.5(TCF3):c.1062T>C (p.Ser354=) rs11882821 0.01552
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys) rs80356569 0.01549
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) rs6725673 0.01548
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038 0.01548
NM_025099.6(CTC1):c.3153G>C (p.Arg1051=) rs3027242 0.01548
NM_000435.3(NOTCH3):c.2039G>A (p.Arg680His) rs10406745 0.01547
NM_000051.4(ATM):c.2193C>T (p.Tyr731=) rs2229019 0.01543
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr) rs744427 0.01542
NM_000435.3(NOTCH3):c.6102C>T (p.Pro2034=) rs114887570 0.01539
NM_000342.4(SLC4A1):c.1770G>A (p.Lys590=) rs35807245 0.01536
NM_001355436.2(SPTB):c.2934G>A (p.Glu978=) rs72724498 0.01536
NM_004168.4(SDHA):c.1664-8G>A rs199790689 0.01533
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_001114134.2(EPB42):c.1318+4C>T rs45498491 0.01529
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779 0.01527
NM_001267550.2(TTN):c.52706-17A>G rs72646807 0.01524
NM_002633.3(PGM1):c.1500C>T (p.Ile500=) rs61737416 0.01523
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_000642.3(AGL):c.82+1565T>G rs145049634 0.01521
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=) rs66523653 0.01518
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_000552.5(VWF):c.6902-5T>A rs112046757 0.01517
NM_006446.5(SLCO1B1):c.1200C>G (p.Phe400Leu) rs59113707 0.01516
NM_001458.5(FLNC):c.1374C>T (p.Pro458=) rs115140972 0.01514
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01511
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_001369.3(DNAH5):c.3301G>A (p.Val1101Met) rs61747516 0.01505
NM_004006.3(DMD):c.832-18C>G rs72470515 0.01505
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys) rs62618736 0.01503
NM_001384474.1(LOXHD1):c.1876G>T (p.Gly626Cys) rs34589386 0.01503
NM_023110.3(FGFR1):c.2187-6C>T rs4647904 0.01503
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01499
NM_001291303.3(FAT4):c.1101A>G (p.Val367=) rs57692448 0.01498
NM_003659.4(AGPS):c.1173C>G (p.Gly391=) rs115580413 0.01496
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_006005.3(WFS1):c.2469C>T (p.Ile823=) rs1801215 0.01494
NM_020297.4(ABCC9):c.1848C>T (p.Asp616=) rs61001398 0.01493
NM_000180.4(GUCY2D):c.2517G>A (p.Thr839=) rs56316238 0.01492
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489 0.01481
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys) rs79926414 0.01477
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) rs45555435 0.01476
NM_001369.3(DNAH5):c.3241A>G (p.Met1081Val) rs16902880 0.01472
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677 0.01472
NM_001267550.2(TTN):c.40141+7G>A rs77960621 0.01470
NM_001369.3(DNAH5):c.3016A>G (p.Ser1006Gly) rs16902886 0.01470
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291 0.01469
NM_001370298.3(FGD4):c.1954-8T>C rs115061722 0.01466
NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met) rs35737219 0.01462
NM_001378183.1(PIEZO2):c.3941C>T (p.Ser1314Phe) rs9959296 0.01461
NM_005529.7(HSPG2):c.7035C>T (p.Ile2345=) rs2229484 0.01460
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213 0.01455
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_005529.7(HSPG2):c.7532C>T (p.Thr2511Ile) rs62642518 0.01448
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196 0.01445
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01445
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) rs28997576 0.01443
NM_000447.3(PSEN2):c.441C>T (p.Ser147=) rs114334281 0.01441
NM_001276345.2(TNNT2):c.163+12G>A rs45580032 0.01441
NM_000558.5(HBA1):c.*46C>A rs141514155 0.01440
NM_001374353.1(GLI2):c.963C>G (p.Pro321=) rs149894186 0.01440
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097 0.01438
NM_001142386.3(PDK3):c.1228A>C (p.Lys410Gln) rs141326782 0.01437
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947 0.01435
NM_006005.3(WFS1):c.9C>T (p.Ser3=) rs71524363 0.01435
NM_000447.3(PSEN2):c.185G>A (p.Arg62His) rs58973334 0.01433
NM_003119.4(SPG7):c.2188A>G (p.Asn730Asp) rs35749032 0.01431
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956 0.01431
NM_001244008.2(KIF1A):c.2979C>T (p.Ala993=) rs116297894 0.01425
NM_001267550.2(TTN):c.3993C>T (p.Ile1331=) rs55757622 0.01419
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01418
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_000350.3(ABCA4):c.2964C>T (p.Leu988=) rs61754034 0.01415
NM_000037.4(ANK1):c.3224C>T (p.Thr1075Ile) rs35213384 0.01414
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_181882.3(PRX):c.731C>T (p.Ala244Val) rs118071705 0.01410
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076 0.01409
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser) rs16851307 0.01408
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=) rs116888435 0.01403
NM_002471.4(MYH6):c.3979-7del rs397516766 0.01401
NM_000051.4(ATM):c.6095+15T>C rs3212321 0.01395
NM_000448.3(RAG1):c.2638G>A (p.Glu880Lys) rs4151033 0.01395
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01393
NM_000051.4(ATM):c.2685A>G (p.Leu895=) rs3218687 0.01393
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230 0.01390
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_032119.4(ADGRV1):c.5304G>A (p.Glu1768=) rs41303346 0.01390
NM_007294.4(BRCA1):c.*36C>G rs3092995 0.01385
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305 0.01384
NM_025099.6(CTC1):c.2162G>C (p.Gly721Ala) rs62620189 0.01383
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_004972.4(JAK2):c.1177C>G (p.Leu393Val) rs2230723 0.01376
NM_002857.4(PEX19):c.879T>C (p.Gly293=) rs74125561 0.01375
NM_001142864.4(PIEZO1):c.1297-14T>C rs11860864 0.01373
NM_004304.5(ALK):c.952+16C>T rs112736234 0.01371
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_001384474.1(LOXHD1):c.3269G>A (p.Arg1090Gln) rs118174674 0.01368
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757 0.01363
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595 0.01363
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_003482.4(KMT2D):c.6807C>T (p.Ser2269=) rs73302197 0.01361
NM_000335.5(SCN5A):c.1302C>T (p.Phe434=) rs41313699 0.01360
NM_001844.5(COL2A1):c.1266+7G>A rs41317915 0.01359
NM_006182.4(DDR2):c.1323G>A (p.Met441Ile) rs34722354 0.01358
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435 0.01358
NM_001267550.2(TTN):c.10700G>A (p.Ser3567Asn) rs72955213 0.01357
NM_000282.4(PCCA):c.1429+7A>G rs16957276 0.01356
NM_000112.4(SLC26A2):c.2220A>G (p.Ter740=) rs61732052 0.01353
NM_000342.4(SLC4A1):c.16-14G>A rs145502796 0.01351
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile) rs16866457 0.01351
NM_001040108.2(MLH3):c.691A>C (p.Lys231Gln) rs28756981 0.01348
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_133379.5(TTN):c.13478A>C (p.Lys4493Thr) rs78457662 0.01346
NM_001105206.3(LAMA4):c.195+144T>C rs147118520 0.01345
NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val) rs34070843 0.01345
NM_002471.4(MYH6):c.399G>A (p.Val133=) rs78891557 0.01343
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968 0.01341
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318 0.01339
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val) rs55948748 0.01336
NM_004304.5(ALK):c.-5G>A rs56270786 0.01336
NM_133379.5(TTN):c.13608C>T (p.Ser4536=) rs72648905 0.01336
NM_000207.3(INS):c.36G>A (p.Ala12=) rs3842744 0.01335
NM_001035.3(RYR2):c.6928+4G>A rs79862521 0.01335
NM_000342.4(SLC4A1):c.1878T>C (p.Asp626=) rs5020 0.01332
NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu) rs41273523 0.01332
NM_000552.5(VWF):c.6532G>T (p.Ala2178Ser) rs34230288 0.01330
NM_000352.6(ABCC8):c.4120-19C>T rs1800853 0.01325
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876 0.01322
NM_005529.7(HSPG2):c.8848G>A (p.Gly2950Arg) rs41266007 0.01322
NM_006231.4(POLE):c.91G>T (p.Ala31Ser) rs34047482 0.01320
NM_003172.4(SURF1):c.167C>G (p.Ala56Gly) rs116779216 0.01318
NM_020312.4(COQ9):c.921+13C>T rs115677652 0.01317
NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln) rs17721059 0.01316
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285 0.01316
NM_001114753.3(ENG):c.524-30G>A rs41409546 0.01314
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264 0.01314
NM_000642.3(AGL):c.3849T>C (p.Ala1283=) rs28730706 0.01312
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816 0.01311
NM_003597.5(KLF11):c.659C>T (p.Thr220Met) rs34336420 0.01310
NM_032228.6(FAR1):c.12C>T (p.Ile4=) rs117395380 0.01310
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_001267550.2(TTN):c.2949C>T (p.Ile983=) rs56310516 0.01308
NM_006883.2(SHOX):c.653G>A (p.Arg218His) rs193072890 0.01306
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys) rs72646869 0.01305
NM_003126.4(SPTA1):c.2520G>C (p.Glu840Asp) rs34577746 0.01305
NM_000168.6(GLI3):c.3083G>T (p.Ser1028Ile) rs79049330 0.01304
NM_000352.6(ABCC8):c.3329+6C>T rs113873225 0.01304
NM_001291303.3(FAT4):c.14135C>G (p.Ser4712Cys) rs147662558 0.01304
NM_000552.5(VWF):c.5843-8C>G rs34444862 0.01303
NM_001142864.4(PIEZO1):c.132C>T (p.Phe44=) rs112488313 0.01303
NM_001289808.2(CRYAB):c.165G>A (p.Leu55=) rs2228387 0.01303
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) rs116758271 0.01300
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000548.5(TSC2):c.3883+8C>G rs45517316 0.01297
NM_001142864.4(PIEZO1):c.2992-18G>A rs190814667 0.01297
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831 0.01296
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646 0.01295
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met) rs16866475 0.01294
NM_001365951.3(KIF1B):c.5432C>T (p.Pro1811Leu) rs61999305 0.01293
NM_003072.5(SMARCA4):c.1419+8C>T rs115492175 0.01292
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=) rs56226196 0.01290
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_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_000037.4(ANK1):c.654C>A (p.Asn218Lys) rs61735313 0.01280
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572 0.01280
NM_002296.4(LBR):c.843A>G (p.Val281=) rs61749339 0.01280
NM_000642.3(AGL):c.3260-19G>A rs140333425 0.01279
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_000546.6(TP53):c.639A>G (p.Arg213=) rs1800372 0.01275
NM_000077.5(CDKN2A):c.-25C>T rs144481587 0.01273
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu) rs11670799 0.01273
NM_001009944.3(PKD1):c.3424C>T (p.Arg1142Trp) rs142202785 0.01272
NM_005032.7(PLS3):c.321T>A (p.Gly107=) rs140121121 0.01269
NM_033118.4(MYLK2):c.430C>G (p.Pro144Ala) rs34396614 0.01268
NM_000141.5(FGFR2):c.110-54C>T rs3135732 0.01267
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=) rs16866467 0.01263
NM_005228.5(EGFR):c.1881-721G>A rs17336988 0.01263
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val) rs72647877 0.01259
NM_001110556.2(FLNA):c.2433C>T (p.Ala811=) rs35986650 0.01258
NM_017553.3(INO80):c.432C>T (p.Asp144=) rs75953315 0.01255
NM_006096.4(NDRG1):c.306C>T (p.Gly102=) rs2233322 0.01251
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_000540.3(RYR1):c.12012+19T>C rs181590606 0.01243
NM_005529.7(HSPG2):c.5998-7A>G rs148336692 0.01243
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813 0.01242
NM_000548.5(TSC2):c.848+276C>G rs60154230 0.01237
NM_000552.5(VWF):c.2771G>A (p.Arg924Gln) rs33978901 0.01237
NM_014236.4(GNPAT):c.1483G>A (p.Val495Ile) rs11122266 0.01237
NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His) rs145911138 0.01237
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_002335.4(LRP5):c.4788C>T (p.Thr1596=) rs113442867 0.01233
NM_001943.5(DSG2):c.217-5G>T rs80073511 0.01232
NM_000435.3(NOTCH3):c.1782C>T (p.Gly594=) rs35793356 0.01231
NM_001458.5(FLNC):c.6004+19G>A rs12530507 0.01231
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_001009944.3(PKD1):c.8679C>G (p.Ser2893=) rs114143642 0.01226
NM_002755.4(MAP2K1):c.711G>A (p.Gly237=) rs17586159 0.01226
NM_020297.4(ABCC9):c.3321C>T (p.Ile1107=) rs35404804 0.01226
NM_006031.6(PCNT):c.4962+10G>A rs114474454 0.01225
NM_006096.4(NDRG1):c.507G>A (p.Ala169=) rs2233331 0.01225
NM_014251.3(SLC25A13):c.615+36T>C rs56773234 0.01220
NM_017433.5(MYO3A):c.533C>T (p.Thr178Ile) rs33968748 0.01220
NM_000037.4(ANK1):c.2211C>G (p.Pro737=) rs34194642 0.01217
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795 0.01215
NM_000687.4(AHCY):c.112C>T (p.Arg38Trp) rs13043752 0.01213
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser) rs72629779 0.01213
NM_001844.5(COL2A1):c.2484G>C (p.Gly828=) rs1793940 0.01213
NM_000346.4(SOX9):c.-169G>A rs115615437 0.01212
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_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_005529.7(HSPG2):c.2558+17G>T rs74060201 0.01206
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln) rs113345685 0.01206
NM_000037.4(ANK1):c.3813G>A (p.Glu1271=) rs16890758 0.01205
NM_001377.3(DYNC2H1):c.195+7T>C rs112718117 0.01205
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu) rs34313873 0.01205
NM_000238.4(KCNH2):c.1332G>A (p.Glu444=) rs9770044 0.01204
NM_002693.3(POLG):c.2254C>T (p.Leu752=) rs41564016 0.01204
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725 0.01203
NM_020435.4(GJC2):c.108C>T (p.Ile36=) rs75469429 0.01203
NM_005379.4(MYO1A):c.1277C>T (p.Pro426Leu) rs4759043 0.01201
NM_178452.6(DNAAF1):c.780G>C (p.Gln260His) rs112051327 0.01197
NM_001267550.2(TTN):c.1003G>A (p.Val335Met) rs72647846 0.01195
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387 0.01193
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913 0.01192
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=) rs55977045 0.01192
NM_001276345.2(TNNT2):c.42-20G>A rs45561443 0.01192
NM_016239.4(MYO15A):c.3023C>G (p.Thr1008Ser) rs143316414 0.01192
NM_206933.4(USH2A):c.688G>A (p.Val230Met) rs45500891 0.01191
NM_001267550.2(TTN):c.11719C>G (p.Leu3907Val) rs55853696 0.01185
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile) rs72650028 0.01184
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=) rs67041405 0.01183
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=) rs73419228 0.01181
NM_005529.7(HSPG2):c.5997+5G>C rs59720663 0.01179
NM_002506.3(NGF):c.239G>A (p.Arg80Gln) rs11466111 0.01173
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg) rs17355460 0.01172
NM_001498.4(GCLC):c.1384C>T (p.Pro462Ser) rs17883718 0.01172
NM_001267550.2(TTN):c.1398+8C>T rs72647848 0.01171
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476 0.01161
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=) rs116091486 0.01159
NM_000257.4(MYH7):c.3972+15C>T rs3729820 0.01159
NM_001105206.3(LAMA4):c.4065C>T (p.Phe1355=) rs34753919 0.01154
NM_001374353.1(GLI2):c.1710G>A (p.Thr570=) rs61732852 0.01154
NM_000071.3(CBS):c.829-91G>A rs150181241 0.01153
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro) rs62621206 0.01151
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371 0.01150
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr) rs55880440 0.01150
NM_001034850.3(RETREG1):c.1135C>G (p.Gln379Glu) rs34432513 0.01144
NM_001042492.3(NF1):c.3974+38T>G rs9894862 0.01144
NM_001040108.2(MLH3):c.1258G>A (p.Val420Ile) rs28756982 0.01142
NM_001267550.2(TTN):c.36489G>A (p.Ala12163=) rs115493456 0.01140
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_006231.4(POLE):c.2174-8G>A rs117409343 0.01137
NM_024577.4(SH3TC2):c.477T>A (p.Ser159=) rs77574155 0.01137
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) rs41303257 0.01136
NM_001142864.4(PIEZO1):c.4475G>A (p.Gly1492Asp) rs8051003 0.01135
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=) rs11574895 0.01135
NM_001130823.3(DNMT1):c.206G>A (p.Arg69His) rs61750053 0.01134
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_001711.6(BGN):c.257A>G (p.Lys86Arg) rs146073993 0.01131
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr) rs111033530 0.01127
NM_017636.4(TRPM4):c.3082C>T (p.Leu1028=) rs79286201 0.01125
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896 0.01123
NM_001035.3(RYR2):c.10230+20T>C rs74323916 0.01122
NM_001308093.3(GATA4):c.1141G>A (p.Val381Met) rs114868912 0.01121
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=) rs72648935 0.01116
NM_002234.4(KCNA5):c.751G>A (p.Ala251Thr) rs12720442 0.01115
NM_004333.6(BRAF):c.-19C>T rs71645935 0.01115
NM_000478.6(ALPL):c.1542G>T (p.Ala514=) rs3200256 0.01113
NM_000051.4(ATM):c.6572+12G>T rs3218677 0.01112
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_000037.4(ANK1):c.489C>T (p.Leu163=) rs34173100 0.01106
NM_153676.4(USH1C):c.819+10G>C rs41282936 0.01105
NM_001377.3(DYNC2H1):c.6478-6C>T rs114254215 0.01103
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233 0.01103
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly) rs28363284 0.01102
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu) rs61733587 0.01098
NM_001360.3(DHCR7):c.570C>T (p.Ala190=) rs74909468 0.01097
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379 0.01097
NM_001365951.3(KIF1B):c.4798G>A (p.Val1600Met) rs77172218 0.01096
NM_001035.3(RYR2):c.6440+20C>T rs115755128 0.01092
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln) rs3219497 0.01092
NM_000264.5(PTCH1):c.2199A>G (p.Ser733=) rs2227970 0.01091
NM_006182.4(DDR2):c.83-4C>T rs76156815 0.01091
NM_001159773.2(CANT1):c.967G>A (p.Ala323Thr) rs9903215 0.01090
NM_178452.6(DNAAF1):c.1769C>T (p.Thr590Met) rs34777958 0.01090
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=) rs77290575 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_000051.4(ATM):c.735C>T (p.Val245=) rs3218674 0.01085
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser) rs67254537 0.01080
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 0.01080
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val) rs66961115 0.01079
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_020937.4(FANCM):c.624A>G (p.Ile208Met) rs45547534 0.01077
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
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_024753.5(TTC21B):c.2742C>T (p.Cys914=) rs73018799 0.01072
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=) rs114771537 0.01071
NM_000717.5(CA4):c.700G>A (p.Val234Ile) rs117704637 0.01071
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) rs78039319 0.01071
NM_000448.3(RAG1):c.1346G>A (p.Arg449Lys) rs4151031 0.01070
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) rs34629171 0.01070
NM_006005.3(WFS1):c.1800C>T (p.Thr600=) rs71524362 0.01070
NM_001267550.2(TTN):c.11019C>T (p.Cys3673=) rs72955212 0.01069
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) rs1805069 0.01068
NM_181882.3(PRX):c.1483G>C (p.Glu495Gln) rs146789340 0.01068
NM_000352.6(ABCC8):c.4119+18A>G rs75967811 0.01067
NM_001276345.2(TNNT2):c.294+7G>A rs45490292 0.01066
NM_000152.5(GAA):c.1075+13C>T rs41292402 0.01065
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_032578.4(MYPN):c.2447C>T (p.Pro816Leu) rs111965755 0.01059
NM_000059.4(BRCA2):c.8487+19A>G rs11571743 0.01055
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_003119.4(SPG7):c.2280G>A (p.Pro760=) rs11559075 0.01053
NM_001040108.2(MLH3):c.2896T>C (p.Ser966Pro) rs17782839 0.01052
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_001291303.3(FAT4):c.13605G>A (p.Lys4535=) rs75469760 0.01048
NM_002471.4(MYH6):c.2946G>A (p.Glu982=) rs145274612 0.01048
NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala) rs17850455 0.01048
NM_000451.4(SHOX):c.870G>A (p.Leu290=) rs746391025 0.01047
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902 0.01045
NM_001164277.2(SLC37A4):c.1275C>T (p.Ser425=) rs35010541 0.01045
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=) rs719202 0.01042
NM_016239.4(MYO15A):c.1791G>A (p.Ala597=) rs114552047 0.01041
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_001184.4(ATR):c.891G>C (p.Lys297Asn) rs2229033 0.01036
NM_003978.5(PSTPIP1):c.642+16G>A rs78282498 0.01035
NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His) rs140192268 0.01034
NM_003659.4(AGPS):c.147C>T (p.Pro49=) rs34442536 0.01033
NM_006721.4(ADK):c.726+11T>G rs45529443 0.01033
NM_033409.4(SLC52A3):c.521A>G (p.Asp174Gly) rs6054614 0.01033
NM_000098.3(CPT2):c.1767G>A (p.Thr589=) rs77565483 0.01032
NM_001035.3(RYR2):c.11880+13_11880+16del rs199562036 0.01032
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544 0.01031
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=) rs73036373 0.01031
NM_001458.5(FLNC):c.2266-14G>C rs75612085 0.01030
NM_000193.4(SHH):c.301-131C>T rs9333618 0.01029
NM_001035.3(RYR2):c.2397-6C>T rs78165942 0.01029
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=) rs17885216 0.01029
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555 0.01028
NM_000352.6(ABCC8):c.2538C>T (p.His846=) rs73423037 0.01028
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His) rs35523678 0.01028
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
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_001184.4(ATR):c.5868C>T (p.Tyr1956=) rs112018640 0.01020
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile) rs72646850 0.01020
NM_004006.3(DMD):c.31+36949C>T rs182597890 0.01020
NM_002474.3(MYH11):c.4401C>T (p.Tyr1467=) rs8046180 0.01019
NM_007294.4(BRCA1):c.212+23T>A rs8176128 0.01018
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_001005242.3(PKP2):c.791C>T (p.Ala264Val) rs62001016 0.01013
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314 0.01013
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly) rs72648951 0.01012
NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=) rs146191243 0.01011
NM_000352.6(ABCC8):c.423G>A (p.Val141=) rs116132921 0.01009
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile) rs1800269 0.01009
NM_001382430.1(AKT1):c.1251C>T (p.Tyr417=) rs139297659 0.01008
NM_001142864.4(PIEZO1):c.6734G>A (p.Arg2245Gln) rs2290901 0.01007
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile) rs146917730 0.01006
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) rs55961436 0.01005
NM_001244008.2(KIF1A):c.363+16C>T rs7594569 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_000342.4(SLC4A1):c.2100C>T (p.Ser700=) rs5024 0.01001
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val) rs16868935 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_032444.4(SLX4):c.4338C>T (p.Thr1446=) rs77718962 0.00998
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe) rs140118273 0.00997
NM_001457.4(FLNB):c.6017A>G (p.Lys2006Arg) rs62621996 0.00994
NM_014208.3(DSPP):c.3561T>C (p.Ser1187=) rs369987019 0.00994
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) rs199644078 0.00993
NM_001999.4(FBN2):c.2778C>T (p.Ala926=) rs28763948 0.00992
NM_213599.3(ANO5):c.1029C>T (p.Asp343=) rs78899595 0.00992
NM_032119.4(ADGRV1):c.11031C>T (p.Asn3677=) rs75480336 0.00991
NM_001035.3(RYR2):c.13977G>A (p.Glu4659=) rs78369334 0.00989
NM_001360.3(DHCR7):c.99-4G>A rs140748737 0.00988
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754 0.00985
NM_001567.4(INPPL1):c.909G>C (p.Lys303Asn) rs17847215 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_001360.3(DHCR7):c.25A>T (p.Ile9Phe) rs115595829 0.00983
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val) rs142735148 0.00983
NM_017950.4(CCDC40):c.2784C>T (p.Ile928=) rs118143944 0.00983
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_003036.4(SKI):c.456C>T (p.Arg152=) rs149898447 0.00976
NM_000546.6(TP53):c.108G>A (p.Pro36=) rs1800370 0.00974
NM_002661.5(PLCG2):c.82A>T (p.Met28Leu) rs61749044 0.00973
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966 0.00972
NM_003126.4(SPTA1):c.3989G>T (p.Arg1330Ile) rs34214405 0.00972
NM_006767.4(LZTR1):c.2219+13C>T rs144005025 0.00972
NM_000540.3(RYR1):c.7737G>A (p.Val2579=) rs114975624 0.00971
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln) rs34819099 0.00971
NM_019844.4(SLCO1B3):c.439A>G (p.Thr147Ala) rs57585902 0.00971
NM_006446.5(SLCO1B1):c.733A>G (p.Ile245Val) rs11045852 0.00969
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359 0.00969
NM_000558.5(HBA1):c.-42C>T rs370305736 0.00968
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr) rs150682895 0.00967
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_147127.5(EVC2):c.3361-89C>A rs116392680 0.00965
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00964
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313 0.00959
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu) rs2227968 0.00959
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762 0.00959
NM_001267550.2(TTN):c.17741-9A>G rs72648944 0.00958
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu) rs1007211 0.00957
NM_032119.4(ADGRV1):c.1839+7G>A rs142011700 0.00957
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439 0.00956
NM_182925.5(FLT4):c.3962G>A (p.Arg1321Gln) rs79620092 0.00954
NM_001142864.4(PIEZO1):c.7152C>T (p.Gly2384=) rs78114078 0.00953
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970 0.00952
NM_016599.5(MYOZ2):c.237A>G (p.Ala79=) rs17851524 0.00952
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) rs61748766 0.00948
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00948
NM_002180.3(IGHMBP2):c.223G>A (p.Ala75Thr) rs2228206 0.00946
NM_000286.3(PEX12):c.733T>A (p.Leu245Ile) rs12941376 0.00945
NM_001972.4(ELANE):c.655G>A (p.Val219Ile) rs17216656 0.00945
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
NM_005529.7(HSPG2):c.831C>T (p.Pro277=) rs41310388 0.00944
NM_001457.4(FLNB):c.1919C>T (p.Thr640Met) rs62621999 0.00943
NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln) rs61734951 0.00943
NM_033100.4(CDHR1):c.240C>T (p.Val80=) rs11593005 0.00943
NM_007078.3(LDB3):c.1506G>A (p.Pro502=) rs45579241 0.00941
NM_003126.4(SPTA1):c.6559A>G (p.Lys2187Glu) rs111980420 0.00939
NM_002386.4(MC1R):c.586T>C (p.Phe196Leu) rs3212366 0.00938
NM_005957.5(MTHFR):c.1476G>A (p.Pro492=) rs35653697 0.00937
NM_006446.5(SLCO1B1):c.481+1G>T rs77271279 0.00934
NM_002471.4(MYH6):c.3627C>T (p.Ile1209=) rs147871745 0.00930
NM_004655.4(AXIN2):c.1573C>G (p.Pro525Ala) rs73346297 0.00930
NM_000546.6(TP53):c.1100+30A>T rs17880847 0.00929
NM_002471.4(MYH6):c.3480C>T (p.Ser1160=) rs373345984 0.00929
NM_170707.4(LMNA):c.1158-44C>T rs141879453 0.00929
NM_001308093.3(GATA4):c.1116A>G (p.Ser372=) rs112435835 0.00928
NM_004360.5(CDH1):c.-71C>G rs34033771 0.00927
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_006182.4(DDR2):c.699C>T (p.Thr233=) rs56351141 0.00925
NM_001009944.3(PKD1):c.3935G>A (p.Arg1312Gln) rs142129358 0.00924
NM_145045.5(ODAD3):c.1501G>A (p.Gly501Ser) rs77133587 0.00924
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180 0.00920
NM_000018.4(ACADVL):c.623-8C>T rs144996066 0.00919
NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp) rs62646879 0.00919
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) rs62178963 0.00915
NM_001360016.2(G6PD):c.645-17C>T rs5986875 0.00915
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_001151.4(SLC25A4):c.567T>C (p.Ala189=) rs149101873 0.00911
NM_000142.5(FGFR3):c.109+26G>A rs17884282 0.00910
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=) rs145776888 0.00910
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu) rs72629787 0.00909
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_014822.4(SEC24D):c.1576C>T (p.Leu526Phe) rs141180741 0.00908
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_005413.4(SIX3):c.525G>A (p.Gln175=) rs116680477 0.00907
NM_001142800.2(EYS):c.4093A>G (p.Lys1365Glu) rs16895519 0.00905
NM_147127.5(EVC2):c.1311A>G (p.Leu437=) rs77131452 0.00904
NM_004239.4(TRIP11):c.5160+59A>G rs117502191 0.00901
NM_181078.3(IL21R):c.-17+563G>A rs117535117 0.00901
NM_004565.3(PEX14):c.213C>G (p.Gly71=) rs41274482 0.00899
NM_005529.7(HSPG2):c.10702G>A (p.Val3568Ile) rs115616224 0.00899
NM_005529.7(HSPG2):c.13119C>T (p.Pro4373=) rs2229477 0.00898
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991 0.00898
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00898
NM_005529.7(HSPG2):c.1167C>T (p.Asp389=) rs145101074 0.00897
NM_006206.6(PDGFRA):c.236G>A (p.Gly79Asp) rs36035373 0.00897
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303 0.00897
NM_001384140.1(PCDH15):c.92-493A>T rs77290854 0.00896
NM_001142864.4(PIEZO1):c.748G>A (p.Val250Ile) rs115486714 0.00895
NM_001369.3(DNAH5):c.4836G>A (p.Val1612=) rs34671383 0.00895
NM_003978.5(PSTPIP1):c.204G>A (p.Thr68=) rs113386299 0.00891
UGT1A1*6 rs4148323 0.00891
NM_194248.3(OTOF):c.710+10C>T rs55639868 0.00890
NM_000548.5(TSC2):c.4990-7C>T rs45457095 0.00888
NM_001999.4(FBN2):c.1466-5C>T rs28763952 0.00887
NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His) rs79486252 0.00887
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_054012.4(ASS1):c.364-6T>C rs116103138 0.00881
NM_001114753.3(ENG):c.1374A>G (p.Pro458=) rs34828244 0.00879
NM_001382430.1(AKT1):c.1179C>T (p.Gly393=) rs11555434 0.00876
NM_000540.3(RYR1):c.10259+7G>A rs143752962 0.00875
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235 0.00873
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572 0.00870
NM_005529.7(HSPG2):c.5442G>A (p.Leu1814=) rs115087461 0.00870
NM_012213.3(MLYCD):c.1464A>G (p.Gln488=) rs1127368 0.00870
NM_018979.4(WNK1):c.5468C>T (p.Pro1823Leu) rs17755373 0.00870
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=) rs55980657 0.00869
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_001142864.4(PIEZO1):c.5828G>A (p.Arg1943Gln) rs115799619 0.00868
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104 0.00867
NM_001024630.4(RUNX2):c.1531G>A (p.Gly511Ser) rs11498198 0.00864
NM_001276345.2(TNNT2):c.68-8A>G rs115805892 0.00864
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_022356.4(P3H1):c.2055+70G>T rs115690038 0.00864
NM_001244008.2(KIF1A):c.4812C>A (p.Thr1604=) rs76974316 0.00862
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg) rs138055271 0.00862
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000478.6(ALPL):c.1381G>A (p.Val461Ile) rs34810399 0.00860
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_005228.5(EGFR):c.1509C>T (p.Gly503=) rs17336800 0.00859
NM_000059.4(BRCA2):c.7806-40A>G rs9590939 0.00858
NM_174936.4(PCSK9):c.1326C>T (p.Ala442=) rs28362262 0.00856
NM_004100.5(EYA4):c.1845C>T (p.Asn615=) rs142721902 0.00854
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala) rs34799090 0.00854
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541 0.00853
NM_000478.6(ALPL):c.1119C>T (p.Thr373=) rs112335417 0.00852
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00852
NM_005228.5(EGFR):c.2047C>T (p.Leu683=) rs55669340 0.00851
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138 0.00851
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val) rs75937132 0.00847
NM_017668.3(NDE1):c.*384C>T rs193005461 0.00847
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_001142864.4(PIEZO1):c.998G>A (p.Arg333His) rs139099911 0.00845
NM_017433.5(MYO3A):c.3094G>A (p.Ala1032Thr) rs34918608 0.00845
NM_001042492.3(NF1):c.4835+36T>C rs16972128 0.00844
NM_181426.2(CCDC39):c.2660dup (p.Ser888fs) rs200353947 0.00844
NM_001458.5(FLNC):c.2390-14C>T rs71581921 0.00843
NM_000384.3(APOB):c.2604+15G>C rs72653066 0.00842
NM_000552.5(VWF):c.2900G>A (p.Gly967Asp) rs141087261 0.00842
NM_001458.5(FLNC):c.6771A>G (p.Pro2257=) rs34422412 0.00842
NM_005142.3(CBLIF):c.290T>C (p.Met97Thr) rs150884181 0.00842
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213 0.00841
NM_024334.3(TMEM43):c.222C>T (p.Pro74=) rs34099410 0.00841
NM_001370466.1(NOD2):c.1752C>T (p.Ala584=) rs61736932 0.00840
NM_003072.5(SMARCA4):c.930C>A (p.Arg310=) rs146141457 0.00837
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_001376013.1(EPB41):c.1464-20T>C rs139715164 0.00835
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys) rs143524436 0.00835
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287 0.00833
NM_006031.6(PCNT):c.6616A>G (p.Thr2206Ala) rs9981448 0.00833
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155 0.00831
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) rs55861600 0.00828
NM_003924.4(PHOX2B):c.750G>A (p.Ala250=) rs17882335 0.00827
NM_012472.6(DNAAF11):c.1162G>A (p.Gly388Ser) rs77289466 0.00827
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=) rs72646893 0.00826
NM_000051.4(ATM):c.8419-19A>G rs12279930 0.00824
NM_000435.3(NOTCH3):c.2566+24G>T rs151276393 0.00824
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_006446.5(SLCO1B1):c.1495A>G (p.Ile499Val) rs74064213 0.00823
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr) rs36210417 0.00822
NM_201548.5(CERKL):c.677+566G>T rs10185262 0.00821
NM_001386795.1(DTNA):c.2162+14G>A rs76713874 0.00820
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_015627.3(LDLRAP1):c.653C>T (p.Thr218Ile) rs114583297 0.00817
NM_003073.5(SMARCB1):c.362+7C>T rs34746244 0.00815
NM_018979.4(WNK1):c.5991G>A (p.Glu1997=) rs61736907 0.00815
NM_174936.4(PCSK9):c.141C>T (p.Ser47=) rs28385701 0.00815
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_003072.5(SMARCA4):c.4768+15G>C rs113131294 0.00813
NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys) rs148912436 0.00813
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992 0.00811
NM_001355436.2(SPTB):c.609G>A (p.Lys203=) rs74666863 0.00811
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_001369.3(DNAH5):c.5224T>C (p.Leu1742=) rs35963491 0.00809
NM_001079802.2(FKTN):c.166-6A>G rs41277795 0.00808
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007 0.00808
NM_001079802.2(FKTN):c.910+14G>A rs76180538 0.00806
NM_015978.3(TNNI3K):c.2057T>C (p.Ile686Thr) rs3737564 0.00806
NM_133379.5(TTN):c.14244T>C (p.Leu4748=) rs139669372 0.00806
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) rs61910685 0.00804
NM_000398.7(CYB5R3):c.898G>A (p.Val300Ile) rs61743746 0.00802
NM_001291303.3(FAT4):c.8544C>T (p.Ser2848=) rs139132509 0.00802
NM_002661.5(PLCG2):c.1712A>G (p.Asn571Ser) rs75472618 0.00802
NM_019844.4(SLCO1B3):c.1679T>C (p.Val560Ala) rs12299012 0.00802
NM_000141.5(FGFR2):c.109+10T>G rs3135722 0.00799
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=) rs56310931 0.00799
NM_001369.3(DNAH5):c.6579+6A>G rs141389162 0.00798
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_001142864.4(PIEZO1):c.1702C>T (p.Leu568=) rs114584865 0.00796
NM_000112.4(SLC26A2):c.655A>G (p.Ile219Val) rs35919114 0.00795
NM_001457.4(FLNB):c.3771G>A (p.Pro1257=) rs146851485 0.00794
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_001375808.2(LPIN2):c.-10+1313C>T rs116643915 0.00793
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 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_002439.5(MSH3):c.1567G>A (p.Glu523Lys) rs34058399 0.00789
NM_006182.4(DDR2):c.1505-19G>A rs143729297 0.00789
NM_001276345.2(TNNT2):c.474G>C (p.Arg158=) rs35914325 0.00788
NM_000257.4(MYH7):c.4520-25C>T rs45503601 0.00787
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu) rs56219475 0.00787
NM_005529.7(HSPG2):c.8929C>T (p.Arg2977Trp) rs114851469 0.00786
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093 0.00784
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser) rs28763945 0.00784
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_170707.4(LMNA):c.438C>T (p.Ala146=) rs80356805 0.00782
NM_014915.3(ANKRD26):c.3655G>A (p.Val1219Ile) rs146819984 0.00781
NM_001142864.4(PIEZO1):c.6219C>T (p.Tyr2073=) rs61745850 0.00779
NM_003119.4(SPG7):c.120G>A (p.Gly40=) rs187330648 0.00779
NM_000435.3(NOTCH3):c.197+24C>G rs188132716 0.00778
NM_177438.3(DICER1):c.2370G>A (p.Arg790=) rs112712209 0.00777
NM_001142864.4(PIEZO1):c.1527C>A (p.Thr509=) rs76834910 0.00776
NM_000642.3(AGL):c.2802A>C (p.Ala934=) rs34230588 0.00775
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387 0.00775
NM_000552.5(VWF):c.5173C>T (p.Pro1725Ser) rs78302129 0.00774
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356 0.00774
NM_006005.3(WFS1):c.1308C>T (p.Thr436=) rs71539646 0.00773
NM_203288.2(RP9):c.664del (p.Ter222AspextTer?) rs553265417 0.00773
NM_001040108.2(MLH3):c.1870G>C (p.Glu624Gln) rs28756986 0.00772
NM_006363.6(SEC23B):c.834+116A>G rs113825530 0.00772
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054 0.00771
NM_006363.6(SEC23B):c.1743+168A>G rs111951711 0.00771
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_006218.4(PIK3CA):c.363C>T (p.Ile121=) rs115746478 0.00769
NM_014208.3(DSPP):c.2012G>A (p.Ser671Asn) rs200839637 0.00769
NM_017950.4(CCDC40):c.2608C>T (p.Arg870Cys) rs61749025 0.00769
NM_020297.4(ABCC9):c.2200G>A (p.Val734Ile) rs61688134 0.00769
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=) rs11571642 0.00768
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964 0.00765
NM_016239.4(MYO15A):c.2680C>T (p.Pro894Ser) rs76707172 0.00765
NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=) rs61753382 0.00763
NM_005142.3(CBLIF):c.193G>A (p.Gly65Arg) rs11825834 0.00763
NM_002335.4(LRP5):c.3564G>A (p.Arg1188=) rs117289001 0.00762
NM_016239.4(MYO15A):c.2028C>A (p.Pro676=) rs577023485 0.00762
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) rs56177950 0.00760
NM_003793.4(CTSF):c.1368C>T (p.Asp456=) rs148155987 0.00759
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320 0.00758
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=) rs61730035 0.00758
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His) rs59887778 0.00758
NM_002296.4(LBR):c.90C>T (p.His30=) rs2230416 0.00758
NM_003793.4(CTSF):c.939G>A (p.Gly313=) rs114727660 0.00758
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_001355436.2(SPTB):c.1765G>A (p.Ala589Thr) rs61459051 0.00757
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_017617.5(NOTCH1):c.3780G>C (p.Val1260=) rs201354526 0.00754
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974 0.00753
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 0.00751
NM_022356.4(P3H1):c.611C>A (p.Pro204His) rs77208721 0.00751
NM_006031.6(PCNT):c.8065-19G>A rs78561636 0.00750
NM_001142864.4(PIEZO1):c.5195C>T (p.Thr1732Met) rs139051768 0.00749
NM_001005361.3(DNM2):c.235+6A>G rs113192269 0.00748
NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu) rs61745086 0.00748
NM_004744.5(LRAT):c.74T>A (p.Phe25Tyr) rs75368761 0.00748
NM_018979.4(WNK1):c.684C>T (p.Gly228=) rs72647374 0.00748
NM_198999.3(SLC26A5):c.-53-2A>G rs116900495 0.00748
NM_000316.3(PTH1R):c.1395+15G>A rs151077141 0.00747
NM_000435.3(NOTCH3):c.1952-23G>A rs147014533 0.00747
NM_001384140.1(PCDH15):c.4672-1637G>A rs139441645 0.00746
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val) rs61754118 0.00745
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile) rs3213409 0.00743
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_004006.3(DMD):c.3603+8A>G rs193249735 0.00743
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn) rs61753611 0.00740
NM_000552.5(VWF):c.2510C>A (p.Ala837Asp) rs75645183 0.00739
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr) rs116826041 0.00739
NM_020191.4(MRPS22):c.201A>G (p.Lys67=) rs11556243 0.00739
NM_020297.4(ABCC9):c.3409G>A (p.Val1137Ile) rs147895473 0.00739
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg) rs148398509 0.00737
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888 0.00736
NM_004984.4(KIF5A):c.820-19G>T rs181688415 0.00736
NM_054012.4(ASS1):c.675C>T (p.Ile225=) rs58233547 0.00735
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783 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_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603 0.00732
NM_003640.5(ELP1):c.1230G>A (p.Pro410=) rs41278359 0.00732
NM_031443.4(CCM2):c.984G>A (p.Gly328=) rs112504276 0.00732
NM_001142864.4(PIEZO1):c.5552C>T (p.Thr1851Met) rs34370460 0.00731
NM_194248.3(OTOF):c.98G>A (p.Arg33Gln) rs56332208 0.00731
NM_001034853.2(RPGR):c.1296A>T (p.Glu432Asp) rs28718831 0.00730
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) rs112469769 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_002471.4(MYH6):c.4206C>T (p.Ala1402=) rs111638554 0.00728
NM_001081.4(CUBN):c.6924A>T (p.Ser2308=) rs115303408 0.00727
NM_002506.3(NGF):c.214G>A (p.Val72Met) rs11466110 0.00727
NM_001291303.3(FAT4):c.12071G>A (p.Arg4024Gln) rs28515675 0.00726
NM_001358921.2(COQ2):c.957C>T (p.Tyr319=) rs141431344 0.00725
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591 0.00724
NM_003126.4(SPTA1):c.3037-14T>C rs142102801 0.00723
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val) rs547352394 0.00722
NM_001844.5(COL2A1):c.708+8C>T rs41317893 0.00720
NM_000260.4(MYO7A):c.133-14C>T rs116228809 0.00719
NM_001395413.1(POR):c.360C>T (p.Ala120=) rs41299490 0.00719
NM_001458.5(FLNC):c.6004+11G>A rs117653869 0.00719
NM_000298.6(PKLR):c.1269+43T>C rs8177982 0.00718
NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser) rs149377346 0.00718
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855 0.00718
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn) rs179363896 0.00715
NM_001244008.2(KIF1A):c.3852T>C (p.His1284=) rs184931664 0.00715
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_006506.5(RASA2):c.2226-5C>T rs112582979 0.00714
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_001267550.2(TTN):c.50551+20C>T rs67636125 0.00708
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_006182.4(DDR2):c.2481G>T (p.Leu827=) rs35077871 0.00708
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp) rs3218772 0.00706
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085 0.00705
NM_001009944.3(PKD1):c.11523C>T (p.Asn3841=) rs113369380 0.00705
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00704
NM_001244008.2(KIF1A):c.4318+17C>T rs138964333 0.00704
NM_001267550.2(TTN):c.57462G>A (p.Gln19154=) rs72646832 0.00703
NM_001267550.2(TTN):c.57464G>A (p.Arg19155Lys) rs72646833 0.00702
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu) rs17452588 0.00701
NM_001267550.2(TTN):c.24160A>T (p.Ile8054Leu) rs72648976 0.00701
NM_004984.4(KIF5A):c.396+14G>A rs17119769 0.00700
NM_005609.4(PYGM):c.1092+6dup rs368602234 0.00700
NM_006939.4(SOS2):c.3489+19C>T rs149825446 0.00700
NM_022356.4(P3H1):c.940+90A>G rs114545255 0.00700
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_005529.7(HSPG2):c.3292G>A (p.Ala1098Thr) rs2501264 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_001267550.2(TTN):c.56529G>A (p.Thr18843=) rs72646827 0.00697
NM_206933.4(USH2A):c.10552G>A (p.Val3518Ile) rs75397806 0.00696
NM_001267550.2(TTN):c.32722+9G>A rs148231130 0.00695
NM_001927.4(DES):c.735+20C>T rs151226355 0.00694
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093 0.00694
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_000059.4(BRCA2):c.517-19C>T rs11571623 0.00693
NM_014874.4(MFN2):c.957C>T (p.Gly319=) rs41278632 0.00690
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00688
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=) rs41266697 0.00686
NM_001267550.2(TTN):c.45083-10A>G rs72677222 0.00683
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656 0.00682
NM_001148.6(ANK2):c.2377-8C>T rs139893914 0.00682
NM_001081.4(CUBN):c.5098G>A (p.Asp1700Asn) rs116114483 0.00681
NM_004387.4(NKX2-5):c.861C>T (p.Ala287=) rs77612903 0.00681
NM_000088.4(COL1A1):c.904-9G>T rs141726413 0.00680
NM_000337.6(SGCD):c.507G>A (p.Ala169=) rs10071079 0.00680
NM_001024630.4(RUNX2):c.1087+17T>C rs148013252 0.00680
NM_001243133.2(NLRP3):c.423C>T (p.Tyr141=) rs56710146 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_003126.4(SPTA1):c.3149C>T (p.Pro1050Leu) rs116297260 0.00678
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884 0.00677
NM_005529.7(HSPG2):c.9719C>T (p.Ala3240Val) rs62642505 0.00677
NM_006363.6(SEC23B):c.1484G>A (p.Arg495His) rs141588462 0.00677
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510 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_002386.4(MC1R):c.464T>C (p.Ile155Thr) rs1110400 0.00675
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265 0.00674
NM_021625.5(TRPV4):c.2433G>C (p.Ser811=) rs34071623 0.00673
NM_181078.3(IL21R):c.824G>A (p.Arg275Gln) rs52822694 0.00673
NM_005228.5(EGFR):c.2963A>C (p.His988Pro) rs17290699 0.00672
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044 0.00672
NM_080680.3(COL11A2):c.1098G>A (p.Ala366=) rs73741539 0.00672
NM_002691.4(POLD1):c.2546G>A (p.Arg849His) rs3218775 0.00670
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314 0.00669
NM_001498.4(GCLC):c.1524G>A (p.Thr508=) rs17881359 0.00669
NM_005529.7(HSPG2):c.7296A>T (p.Ala2432=) rs2229485 0.00669
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met) rs2230896 0.00668
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=) rs72648258 0.00667
NM_006415.4(SPTLC1):c.*124A>G rs189582528 0.00666
NM_014208.3(DSPP):c.3204T>C (p.Asp1068=) rs370264407 0.00665
NM_000208.4(INSR):c.2683-5C>T rs41306363 0.00664
NM_005428.4(VAV1):c.1980T>C (p.His660=) rs112350637 0.00662
NM_005529.7(HSPG2):c.3967C>G (p.Leu1323Val) rs10917058 0.00662
NM_000142.5(FGFR3):c.1076-13C>T rs114754024 0.00661
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_024334.3(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492 0.00660
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=) rs144876996 0.00659
NM_014000.3(VCL):c.2801C>T (p.Ala934Val) rs16931179 0.00658
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) rs2229474 0.00657
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly) rs61749367 0.00656
NM_001355436.2(SPTB):c.1707G>A (p.Lys569=) rs139116435 0.00656
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_017654.4(SAMD9):c.4733T>C (p.Ile1578Thr) rs144380633 0.00655
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_001142864.4(PIEZO1):c.6222C>T (p.Phe2074=) rs34388120 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_015046.7(SETX):c.1957C>A (p.Gln653Lys) rs116333061 0.00653
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_000016.6(ACADM):c.*77C>T rs143911981 0.00652
NM_000341.4(SLC3A1):c.892-6C>G rs114640930 0.00651
NM_000552.5(VWF):c.391G>A (p.Gly131Ser) rs76505074 0.00651
NM_001195263.2(PDZD7):c.1008C>T (p.Pro336=) rs144469613 0.00650
NM_017950.4(CCDC40):c.1303G>A (p.Glu435Lys) rs62000409 0.00649
NM_178452.6(DNAAF1):c.2134C>G (p.Pro712Ala) rs4150187 0.00649
NM_006031.6(PCNT):c.8924T>C (p.Leu2975Pro) rs35881595 0.00647
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser) rs34135067 0.00646
NM_032601.4(MCEE):c.102C>G (p.Pro34=) rs146573280 0.00646
NM_004415.4(DSP):c.*9T>A rs11558732 0.00645
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119 0.00645
NM_004082.5(DCTN1):c.3529+5G>A rs72466494 0.00644
NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln) rs142032474 0.00643
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043 0.00642
NM_178452.6(DNAAF1):c.736G>A (p.Asp246Asn) rs151099638 0.00642
NM_000245.4(MET):c.948A>G (p.Ile316Met) rs35225896 0.00641
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys) rs28626194 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_001458.5(FLNC):c.352+10G>A rs79489893 0.00639
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724 0.00638
NM_139125.4(MASP1):c.1090+2877G>A rs113938200 0.00638
NM_053025.4(MYLK):c.2101G>A (p.Ala701Thr) rs142835596 0.00637
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_000455.5(STK11):c.369G>A (p.Gln123=) rs140112347 0.00636
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=) rs76771282 0.00636
NM_004614.5(TK2):c.94C>T (p.Arg32Trp) rs200121712 0.00636
NM_017668.3(NDE1):c.948-6839G>A rs183176702 0.00636
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=) rs34119447 0.00635
NM_133379.5(TTN):c.16508G>C (p.Ser5503Thr) rs16866489 0.00635
NM_000053.4(ATP7B):c.-54G>T rs115564351 0.00634
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly) rs146983095 0.00634
NM_015046.7(SETX):c.7905C>T (p.Ala2635=) rs112201716 0.00633
NM_002764.4(PRPS1):c.456A>G (p.Leu152=) rs61735617 0.00632
NM_020708.5(SLC12A5):c.482-5T>C rs147042920 0.00631
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe) rs184339274 0.00631
NM_001081.4(CUBN):c.5080+17T>C rs79034718 0.00630
NM_001377.3(DYNC2H1):c.10834G>C (p.Asp3612His) rs116872934 0.00628
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser) rs143736974 0.00628
NM_001031710.3(KLHL7):c.1440A>G (p.Lys480=) rs118185564 0.00627
NM_000363.5(TNNI3):c.-47C>T rs202159627 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_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170 0.00625
NM_000541.5(SAG):c.1091C>T (p.Pro364Leu) rs112613526 0.00622
NM_000447.3(PSEN2):c.756G>C (p.Ala252=) rs147702142 0.00621
NM_004006.3(DMD):c.3787-18T>C rs72468656 0.00621
NM_012452.3(TNFRSF13B):c.61+10C>T rs148297590 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_018319.4(TDP1):c.302C>T (p.Pro101Leu) rs35455108 0.00620
NM_001114134.2(EPB42):c.1767C>A (p.His589Gln) rs114354377 0.00619
NM_000243.3(MEFV):c.*9C>T rs11466048 0.00618
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_001081.4(CUBN):c.963C>T (p.Pro321=) rs150309054 0.00617
NM_024753.5(TTC21B):c.1870A>G (p.Ile624Val) rs77106136 0.00617
NM_000207.3(INS):c.188-16C>T rs5507 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_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441 0.00614
NM_000089.4(COL1A2):c.1036-12A>G rs41316929 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_001377.3(DYNC2H1):c.12007G>A (p.Ala4003Thr) rs61737514 0.00612
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys) rs12720445 0.00612
NM_032444.4(SLX4):c.90C>T (p.Ser30=) rs118089506 0.00612
NM_005529.7(HSPG2):c.10045C>G (p.Leu3349Val) rs75843082 0.00610
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_001114753.3(ENG):c.1932C>T (p.Ile644=) rs181330955 0.00609
NM_005422.4(TECTA):c.5384-19G>A rs7111480 0.00609
NM_022041.4(GAN):c.1239C>T (p.Ile413=) rs61740238 0.00609
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773 0.00608
NM_000162.5(GCK):c.46-5594A>G rs75119141 0.00607
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895 0.00606
NM_019844.4(SLCO1B3):c.108C>G (p.Phe36Leu) rs79042365 0.00606
NM_005428.4(VAV1):c.835G>A (p.Val279Ile) rs117819421 0.00605
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_001035.3(RYR2):c.14299-12A>G rs41267519 0.00603
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) rs36023150 0.00602
NM_018076.5(ODAD2):c.612T>A (p.Asp204Glu) rs61729354 0.00602
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) rs35493783 0.00602
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
NM_001267550.2(TTN):c.45350-13T>C rs113084617 0.00600
NM_002180.3(IGHMBP2):c.256+9G>A rs118015540 0.00600
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831 0.00600
NM_006445.4(PRPF8):c.5469C>T (p.His1823=) rs115404141 0.00600
NM_000051.4(ATM):c.4042T>C (p.Leu1348=) rs56355831 0.00599
NM_001142864.4(PIEZO1):c.7505A>G (p.Lys2502Arg) rs34830861 0.00599
NM_001303256.3(MORC2):c.234T>G (p.Ala78=) rs140792905 0.00599
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln) rs76756898 0.00599
NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr) rs36083134 0.00599
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr) rs114026724 0.00598
NM_175914.5(HNF4A):c.393T>C (p.Asn131=) rs113308087 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_000143.4(FH):c.53C>T (p.Pro18Leu) rs201887750 0.00597
NM_001267550.2(TTN):c.36126A>C (p.Glu12042Asp) rs113231696 0.00597
NM_001291303.3(FAT4):c.4154T>C (p.Leu1385Ser) rs139883132 0.00597
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065 0.00596
NM_001243133.2(NLRP3):c.1600C>T (p.Leu534=) rs116054301 0.00596
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962 0.00596
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350 0.00594
NM_000518.5(HBB):c.93-23T>C rs111851677 0.00593
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser) rs16866477 0.00593
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile) rs148355156 0.00591
NM_002529.4(NTRK1):c.2272G>A (p.Ala758Thr) rs62640939 0.00591
NM_133379.5(TTN):c.11006A>G (p.Asp3669Gly) rs72647896 0.00591
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=) rs115070904 0.00590
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653 0.00590
NM_000492.4(CFTR):c.164+28A>G rs34010645 0.00589
NM_002109.6(HARS1):c.14C>A (p.Ala5Glu) rs78741041 0.00588
NM_000112.4(SLC26A2):c.*330G>T rs191884433 0.00587
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424 0.00587
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250 0.00587
NM_024577.4(SH3TC2):c.645C>T (p.Ser215=) rs80227512 0.00587
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu) rs116307796 0.00586
NM_003073.5(SMARCB1):c.500+65G>A rs34545858 0.00586
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr) rs72648946 0.00585
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338 0.00584
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00583
NM_001084.5(PLOD3):c.1144G>C (p.Asp382His) rs41281013 0.00583
NM_021625.5(TRPV4):c.810G>A (p.Gly270=) rs147558344 0.00582
NM_001013703.4(EIF2AK4):c.1660+12A>T rs55851223 0.00580
NM_004006.3(DMD):c.3432+2036A>C rs182575709 0.00580
NM_014920.5(CILK1):c.1448C>G (p.Ser483Cys) rs115840580 0.00580
NM_032119.4(ADGRV1):c.2553+11T>A rs73181640 0.00580
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro) rs28730852 0.00579
NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=) rs41316723 0.00578
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028 0.00578
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=) rs114008185 0.00577
NM_017780.4(CHD7):c.5051-4C>T rs71640288 0.00577
NM_177438.3(DICER1):c.5095+13C>T rs116247322 0.00577
NM_000254.3(MTR):c.858C>T (p.Pro286=) rs146019467 0.00576
NM_001032283.3(TMPO):c.565+2487C>T rs17028450 0.00576
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=) rs45624133 0.00575
NM_001134363.3(RBM20):c.1881-3C>T rs138436392 0.00575
NM_001365088.1(SLC12A6):c.318C>T (p.Asp106=) rs116086579 0.00575
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00575
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His) rs73969684 0.00574
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031 0.00573
NM_006031.6(PCNT):c.8752-5A>C rs149444205 0.00573
NM_052945.4(TNFRSF13C):c.475C>T (p.His159Tyr) rs61756766 0.00573
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00572
NM_002880.4(RAF1):c.923C>T (p.Pro308Leu) rs5746220 0.00571
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000321.3(RB1):c.2521-11G>A rs4151624 0.00570
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu) rs33971253 0.00570
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582 0.00570
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135 0.00570
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406 0.00570
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975 0.00570
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu) rs17216663 0.00569
NM_005529.7(HSPG2):c.11671+15C>T rs7515291 0.00569
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_000051.4(ATM):c.186-7C>T rs55674039 0.00568
NM_001605.3(AARS1):c.64G>A (p.Glu22Lys) rs151091410 0.00568
NM_181523.3(PIK3R1):c.195A>G (p.Glu65=) rs73768883 0.00567
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_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_000384.3(APOB):c.10131G>A (p.Leu3377=) rs1799812 0.00564
NM_001142864.4(PIEZO1):c.2139C>T (p.His713=) rs36067616 0.00564
NM_000132.4(F8):c.1508G>A (p.Arg503His) rs35383156 0.00563
NM_005422.4(TECTA):c.790+12C>T rs138644808 0.00563
NM_007373.4(SHOC2):c.1423-7C>T rs180671383 0.00563
NM_014402.5(UQCRQ):c.108C>G (p.Pro36=) rs36093416 0.00563
NM_001142864.4(PIEZO1):c.4495+4C>T rs140520334 0.00562
NM_133379.5(TTN):c.13936A>G (p.Lys4646Glu) rs140909116 0.00562
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_001377.3(DYNC2H1):c.11726-10A>T rs185916947 0.00561
NM_005802.5(TOPORS):c.2160C>T (p.Tyr720=) rs74328058 0.00561
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502 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_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_001199397.3(NEK1):c.3624T>C (p.Asp1208=) rs55740606 0.00560
NM_001009944.3(PKD1):c.8161+8G>A rs199569003 0.00559
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408 0.00559
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147 0.00558
NM_001370466.1(NOD2):c.785A>G (p.Asn262Ser) rs5743271 0.00557
NM_000138.5(FBN1):c.2855-9C>T rs140590 0.00556
NM_000243.3(MEFV):c.1587+33C>G rs146820856 0.00556
NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=) rs115216455 0.00556
NM_001355436.2(SPTB):c.5554-3C>T rs190765118 0.00555
NM_001377.3(DYNC2H1):c.11238C>T (p.Ser3746=) rs78599571 0.00555
NM_000297.4(PKD2):c.570G>T (p.Ala190=) rs541702320 0.00554
NM_000384.3(APOB):c.905-15C>G rs72653061 0.00554
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe) rs147122501 0.00554
NM_001109809.5(ZFP57):c.783C>T (p.Cys261=) rs61730328 0.00553
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00553
NM_002230.4(JUP):c.1774-13C>T rs116772523 0.00553
NM_006785.4(MALT1):c.1223-20_1223-17del rs558928879 0.00553
NM_001130823.3(DNMT1):c.117+19T>C rs77954383 0.00552
NM_001130823.3(DNMT1):c.1500C>T (p.Ala500=) rs75443147 0.00552
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843 0.00552
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln) rs111475461 0.00551
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00550
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_006767.4(LZTR1):c.1209C>T (p.Phe403=) rs145833752 0.00550
NM_018063.5(HELLS):c.993G>A (p.Thr331=) rs112321661 0.00550
NM_001142864.4(PIEZO1):c.2466C>T (p.Thr822=) rs138064042 0.00549
NM_001130823.3(DNMT1):c.2382-4C>T rs74505694 0.00548
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573 0.00548
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090 0.00548
NM_003072.5(SMARCA4):c.222+14T>C rs112825147 0.00548
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys) rs2307450 0.00547
NM_004444.5(EPHB4):c.2670G>T (p.Glu890Asp) rs35638378 0.00547
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr) rs56404770 0.00546
NM_003072.5(SMARCA4):c.1419+7T>C rs112977340 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_000158.4(GBE1):c.143+11A>C rs145918282 0.00545
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_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_000037.4(ANK1):c.1999-17C>T rs28571216 0.00543
NM_021625.5(TRPV4):c.1744C>T (p.Leu582=) rs35078611 0.00542
NM_032119.4(ADGRV1):c.4260A>G (p.Glu1420=) rs61740119 0.00542
NM_001048174.2(MUTYH):c.421-4A>G rs201678305 0.00541
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp) rs144360241 0.00541
NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln) rs113808165 0.00541
NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val) rs147376000 0.00541
NM_017866.6(TMEM70):c.684C>G (p.Asn228Lys) rs35564486 0.00541
NM_182925.5(FLT4):c.3460G>A (p.Gly1154Arg) rs75614493 0.00541
NM_020708.5(SLC12A5):c.1189A>T (p.Thr397Ser) rs34058554 0.00540
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00539
NM_000557.5(GDF5):c.349G>T (p.Ala117Ser) rs151149144 0.00539
NM_001143992.2(WRAP53):c.1223G>A (p.Gly408Asp) rs116535684 0.00539
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00538
NM_001377229.1(DISP1):c.1950A>G (p.Thr650=) rs73130656 0.00538
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=) rs144384573 0.00538
NM_025059.4(CCDC170):c.1033G>A (p.Glu345Lys) rs55868409 0.00538
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=) rs41313687 0.00537
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_003073.5(SMARCB1):c.438A>G (p.Pro146=) rs35105793 0.00536
NM_001142864.4(PIEZO1):c.7041C>T (p.Asp2347=) rs34352064 0.00535
NM_001199397.3(NEK1):c.2731C>G (p.Gln911Glu) rs6828134 0.00535
NM_001267550.2(TTN):c.42024+6T>C rs140002940 0.00535
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_001999.4(FBN2):c.1285A>G (p.Ser429Gly) rs115242287 0.00534
NM_000532.5(PCCB):c.546G>A (p.Arg182=) rs61598773 0.00533
NM_001267550.2(TTN):c.39709+6C>T rs72650067 0.00533
NM_000517.6(HBA2):c.95+27C>T rs558457816 0.00531
NM_001081.4(CUBN):c.9340G>A (p.Gly3114Ser) rs117035284 0.00531
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891 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_023036.6(DNAI2):c.1462C>T (p.Leu488Phe) rs61736879 0.00529
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464 0.00527
NM_000208.4(INSR):c.1123+13G>T rs72549236 0.00526
NM_001370298.3(FGD4):c.1971C>T (p.Ile657=) rs61748364 0.00526
NM_001365951.3(KIF1B):c.2115+6956A>G rs148481786 0.00525
NM_000218.3(KCNQ1):c.720C>T (p.His240=) rs28730754 0.00524
NM_001142864.4(PIEZO1):c.1723G>A (p.Val575Met) rs187832410 0.00523
NM_001377229.1(DISP1):c.3287T>C (p.Met1096Thr) rs144673025 0.00523
NM_000942.5(PPIB):c.344-61C>T rs2241995 0.00522
NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp) rs114823319 0.00522
NM_001457.4(FLNB):c.5646G>A (p.Pro1882=) rs114882667 0.00522
NM_020631.6(PLEKHG5):c.-88+6328C>T rs147378306 0.00522
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met) rs62073570 0.00522
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg) rs17109261 0.00521
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_006767.4(LZTR1):c.201-8C>T rs183476594 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_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_174936.4(PCSK9):c.1869C>T (p.Thr623=) rs28362285 0.00518
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=) rs148157556 0.00517
NM_000384.3(APOB):c.12794T>C (p.Val4265Ala) rs61743502 0.00516
NM_001142864.4(PIEZO1):c.4770G>A (p.Val1590=) rs183221795 0.00516
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His) rs56044609 0.00516
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_005327.7(HADH):c.275T>G (p.Phe92Cys) rs61735992 0.00516
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp) rs144471022 0.00516
NM_001277115.2(DNAH11):c.693-9T>C rs72655973 0.00515
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly) rs28730855 0.00515
NM_000254.3(MTR):c.1033G>A (p.Val345Ile) rs145006491 0.00514
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890 0.00513
NM_001081.4(CUBN):c.9986C>T (p.Ser3329Leu) rs74431427 0.00513
NM_002661.5(PLCG2):c.2094C>T (p.Asp698=) rs143195637 0.00513
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_014639.4(SKIC3):c.4187A>G (p.Asn1396Ser) rs116690692 0.00511
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser) rs114745089 0.00511
NM_031475.3(ESPN):c.2070G>A (p.Ser690=) rs142850918 0.00511
NM_000335.5(SCN5A):c.3508+10C>T rs41258454 0.00510
NM_002661.5(PLCG2):c.2542C>T (p.Leu848Phe) rs114618894 0.00510
NM_005633.4(SOS1):c.2167+6T>G rs186640807 0.00510
NM_024996.7(GFM1):c.568A>C (p.Met190Leu) rs75450876 0.00510
NM_003072.5(SMARCA4):c.2388C>T (p.Leu796=) rs28997580 0.00508
NM_002863.5(PYGL):c.176C>T (p.Thr59Met) rs150483902 0.00507
NM_020297.4(ABCC9):c.2644-19G>A rs73254534 0.00507
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_000038.6(APC):c.532-32T>C rs112108777 0.00505
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525 0.00505
NM_030943.4(AMN):c.165G>A (p.Met55Ile) rs61731158 0.00505
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_001457.4(FLNB):c.3785G>C (p.Gly1262Ala) rs111330368 0.00503
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_001876.4(CPT1A):c.863G>A (p.Arg288Gln) rs140958507 0.00501
NM_012096.3(APPL1):c.256T>C (p.Leu86=) rs147166062 0.00501
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130 0.00500
NM_002454.3(MTRR):c.288C>T (p.Leu96=) rs35587995 0.00500
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) rs41316003 0.00500
NM_174936.4(PCSK9):c.720C>T (p.Gly240=) rs41297883 0.00500
NM_000053.4(ATP7B):c.3403G>A (p.Ala1135Thr) rs187200982 0.00499
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp) rs142775522 0.00499
NM_003476.5(CSRP3):c.213C>T (p.Ile71=) rs45476991 0.00499
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) rs56056823 0.00499
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) rs76081119 0.00498
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164 0.00498
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser) rs144922355 0.00496
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327 0.00496
NM_000251.3(MSH2):c.984C>T (p.Ala328=) rs4987189 0.00495
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_006158.5(NEFL):c.667C>T (p.Leu223=) rs60156239 0.00494
NM_000053.4(ATP7B):c.*15C>T rs73498144 0.00493
NM_001035.3(RYR2):c.1292+20C>T rs182050281 0.00493
NM_018706.7(DHTKD1):c.1048A>G (p.Asn350Asp) rs34716552 0.00493
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu) rs17216670 0.00492
NM_000492.4(CFTR):c.1581A>G (p.Glu527=) rs1800094 0.00491
NM_001127511.3(APC):c.-181C>T rs115658307 0.00491
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713 0.00491
NM_002661.5(PLCG2):c.1565C>G (p.Pro522Arg) rs72824905 0.00491
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) rs56013867 0.00491
NM_002471.4(MYH6):c.330G>A (p.Ala110=) rs77679218 0.00490
NM_013314.4(BLNK):c.472G>T (p.Ala158Ser) rs148612299 0.00489
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=) rs9858585 0.00488
NM_001457.4(FLNB):c.7099G>A (p.Val2367Ile) rs115747856 0.00488
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_206933.4(USH2A):c.13440G>A (p.Arg4480=) rs111033378 0.00488
NM_002471.4(MYH6):c.36G>A (p.Ala12=) rs141014719 0.00487
NM_001297.5(CNGB1):c.634A>T (p.Thr212Ser) rs192628905 0.00486
NM_002691.4(POLD1):c.1275C>T (p.Ala425=) rs3219392 0.00486
NM_004006.3(DMD):c.10789C>T (p.Leu3597=) rs1800281 0.00486
NM_004614.5(TK2):c.231+10C>T rs187517309 0.00486
NM_000142.5(FGFR3):c.663G>A (p.Ser221=) rs114421370 0.00485
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186 0.00485
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_032119.4(ADGRV1):c.3289G>A (p.Gly1097Ser) rs148097083 0.00484
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846 0.00484
NM_000254.3(MTR):c.3599-18C>T rs116444161 0.00483
NM_001009944.3(PKD1):c.11411+18C>T rs183078730 0.00483
NM_001355436.2(SPTB):c.996C>T (p.Asn332=) rs141060172 0.00483
NM_001374353.1(GLI2):c.720C>T (p.Asp240=) rs142793481 0.00483
NM_001109809.5(ZFP57):c.112C>T (p.Arg38Trp) rs114772002 0.00482
NM_001384474.1(LOXHD1):c.2871G>A (p.Ser957=) rs181591912 0.00482
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917 0.00481
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=) rs11904444 0.00481
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn) rs116567963 0.00481
NM_000088.4(COL1A1):c.612C>T (p.Pro204=) rs138078016 0.00480
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val) rs35176378 0.00480
NM_003126.4(SPTA1):c.5834-15G>A rs192889943 0.00480
NM_000071.3(CBS):c.531+11G>A rs186114513 0.00479
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856 0.00479
NM_001009944.3(PKD1):c.11934C>T (p.Asp3978=) rs202207855 0.00479
NM_001378183.1(PIEZO2):c.6530G>C (p.Arg2177Thr) rs79992793 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
NR_001566.1(TERC):n.228G>A rs141686314 0.00478
NM_001377299.1(NDUFS2):c.968G>A (p.Arg323Gln) rs35086265 0.00477
NM_133379.5(TTN):c.13455T>C (p.Pro4485=) rs146470872 0.00477
NM_003200.5(TCF3):c.558A>G (p.Pro186=) rs11879412 0.00475
NM_004415.4(DSP):c.2630+18C>T rs145963404 0.00475
NM_015404.4(WHRN):c.764G>A (p.Gly255Asp) rs79509430 0.00475
NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln) rs111572459 0.00474
NM_001142864.4(PIEZO1):c.7240G>A (p.Asp2414Asn) rs58548913 0.00473
NM_145309.6(LRRC51):c.352G>C (p.Gly118Arg) rs149637884 0.00473
NM_000451.4(SHOX):c.63C>T (p.Gly21=) rs142306835 0.00472
NM_001142864.4(PIEZO1):c.5694G>C (p.Glu1898Asp) rs201829917 0.00472
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_000257.4(MYH7):c.1579-17C>T rs182949516 0.00470
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val) rs141441058 0.00470
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) rs62346982 0.00470
NM_015046.7(SETX):c.2672T>C (p.Val891Ala) rs148181729 0.00470
NM_018139.3(DNAAF2):c.1494G>A (p.Ser498=) rs2985688 0.00470
NM_022489.4(INF2):c.1451G>A (p.Cys484Tyr) rs201323100 0.00470
NM_144687.4(NLRP12):c.3046C>T (p.Arg1016Ter) rs35064500 0.00470
NM_001009944.3(PKD1):c.12198C>T (p.Cys4066=) rs116216040 0.00469
NM_000188.3(HK1):c.2007G>A (p.Glu669=) rs117797901 0.00468
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=) rs72646857 0.00468
NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu) rs16991652 0.00468
NM_000540.3(RYR1):c.9882C>T (p.Ser3294=) rs142610625 0.00467
NM_000316.3(PTH1R):c.216G>A (p.Ala72=) rs116789130 0.00466
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys) rs115321485 0.00466
NM_015340.4(LARS2):c.765G>A (p.Ala255=) rs116272561 0.00466
NM_000037.4(ANK1):c.3399C>T (p.Thr1133=) rs117516263 0.00465
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His) rs62295357 0.00465
NM_001148.6(ANK2):c.9061G>A (p.Ala3021Thr) rs74348333 0.00465
NM_024426.6(WT1):c.1114-9T>C rs5030274 0.00465
NM_001081.4(CUBN):c.2756A>G (p.His919Arg) rs148869805 0.00464
NM_006182.4(DDR2):c.408T>C (p.His136=) rs2271305 0.00463
NM_016239.4(MYO15A):c.3756C>T (p.Tyr1252=) rs59933498 0.00463
NM_147127.5(EVC2):c.675A>G (p.Gly225=) rs74930168 0.00463
NM_001364905.1(LRBA):c.3350G>T (p.Gly1117Val) rs35977354 0.00462
NM_001364905.1(LRBA):c.3826-5A>G rs114629781 0.00462
NM_001395413.1(POR):c.508-4G>A rs41299496 0.00462
NM_004082.5(DCTN1):c.586A>G (p.Ile196Val) rs55862001 0.00462
NM_014845.6(FIG4):c.66+10C>T rs200063827 0.00462
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=) rs116747861 0.00461
NM_001035.3(RYR2):c.1863C>T (p.His621=) rs17686573 0.00461
NM_001105206.3(LAMA4):c.888C>T (p.Ser296=) rs17073495 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_001145809.2(MYH14):c.2792G>A (p.Arg931His) rs200351672 0.00460
NM_001365536.1(SCN9A):c.2517+6C>T rs145316463 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_000243.3(MEFV):c.1760-4G>A rs79662406 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_001267550.2(TTN):c.60055G>A (p.Glu20019Lys) rs201487340 0.00458
NM_006096.4(NDRG1):c.879G>A (p.Pro293=) rs2233340 0.00458
NM_012186.3(FOXE3):c.587G>C (p.Gly196Ala) rs281865461 0.00458
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln) rs28363283 0.00457
NM_006031.6(PCNT):c.9099+12G>A rs140828051 0.00457
NM_170707.4(LMNA):c.357-3717A>G rs148559653 0.00457
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=) rs150865922 0.00456
NM_001918.5(DBT):c.1282-13_1282-9del rs761681999 0.00456
NM_015404.4(WHRN):c.1166+18G>A rs149202009 0.00456
NM_181882.3(PRX):c.1216G>A (p.Ala406Thr) rs117336941 0.00456
NM_000098.3(CPT2):c.1578T>C (p.Gly526=) rs113493395 0.00455
NM_002471.4(MYH6):c.86G>A (p.Arg29Gln) rs150574114 0.00455
NM_006231.4(POLE):c.1359+18C>T rs5744775 0.00455
NM_001457.4(FLNB):c.4671+11G>A rs115346578 0.00454
NM_003001.5(SDHC):c.354T>C (p.Phe118=) rs61733156 0.00454
NM_005188.4(CBL):c.2710G>A (p.Val904Ile) rs17122769 0.00454
NM_003126.4(SPTA1):c.3160A>T (p.Thr1054Ser) rs145054175 0.00453
NM_006904.7(PRKDC):c.10684T>A (p.Leu3562Met) rs8178232 0.00453
NM_017636.4(TRPM4):c.755G>A (p.Arg252His) rs146564314 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_002471.4(MYH6):c.1989C>T (p.Asn663=) rs28730774 0.00451
NM_003850.3(SUCLA2):c.256A>G (p.Ile86Val) rs61756204 0.00451
NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn) rs116826217 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_001003800.2(BICD2):c.2258+15G>C rs140501870 0.00450
NM_001142864.4(PIEZO1):c.1199G>A (p.Arg400Gln) rs139100986 0.00450
NM_000059.4(BRCA2):c.9257-113T>G rs191553604 0.00449
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437 0.00449
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=) rs62038811 0.00448
NM_001371986.1(UNC80):c.92+7G>A rs200211384 0.00448
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082 0.00448
NM_020297.4(ABCC9):c.285-16G>A rs144825585 0.00448
NM_000342.4(SLC4A1):c.12G>A (p.Leu4=) rs115901854 0.00447
NM_001360.3(DHCR7):c.1008C>T (p.His336=) rs75225632 0.00447
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460 0.00447
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_000492.4(CFTR):c.3718-2530A>G rs213990 0.00445
NM_001145809.2(MYH14):c.826A>G (p.Ile276Val) rs55645295 0.00445
NM_022455.5(NSD1):c.1690G>T (p.Ala564Ser) rs116520623 0.00445
NM_001142864.4(PIEZO1):c.2865G>A (p.Gln955=) rs35597347 0.00444
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser) rs73481453 0.00444
NM_002471.4(MYH6):c.2168+17C>A rs192337153 0.00443
NM_020631.6(PLEKHG5):c.2581C>T (p.Arg861Cys) rs148560273 0.00443
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=) rs116703544 0.00442
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_004281.4(BAG3):c.231G>A (p.Pro77=) rs143752613 0.00441
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_002234.4(KCNA5):c.929C>T (p.Pro310Leu) rs17215402 0.00439
NM_000188.3(HK1):c.1515C>T (p.Asn505=) rs140498607 0.00438
NM_019844.4(SLCO1B3):c.69C>T (p.Arg23=) rs149944473 0.00438
NM_022114.4(PRDM16):c.1212G>A (p.Thr404=) rs139129844 0.00438
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser) rs61750615 0.00437
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg) rs61754130 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_000552.5(VWF):c.1037C>T (p.Thr346Ile) rs111971143 0.00436
NM_001134363.3(RBM20):c.2655+15A>G rs187915202 0.00436
NM_001303256.3(MORC2):c.2469G>C (p.Arg823=) rs41279971 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_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949 0.00435
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00435
NM_004990.4(MARS1):c.1753+7A>G rs117914586 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_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_000352.6(ABCC8):c.354C>T (p.Val118=) rs137873871 0.00434
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_000435.3(NOTCH3):c.3704A>T (p.His1235Leu) rs55882518 0.00433
NM_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn) rs138732899 0.00433
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689 0.00433
NM_004656.4(BAP1):c.2057-4G>T rs149499021 0.00433
NM_021254.4(CFAP298):c.622G>A (p.Val208Met) rs61735781 0.00433
NM_006506.5(RASA2):c.26C>T (p.Ala9Val) rs200191034 0.00432
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_000088.4(COL1A1):c.4281T>C (p.Ile1427=) rs41316725 0.00431
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904 0.00431
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882 0.00430
NM_004168.4(SDHA):c.969C>T (p.Gly323=) rs142849100 0.00430
NM_000179.3(MSH6):c.1345C>T (p.Leu449=) rs3136333 0.00429
NM_000316.3(PTH1R):c.436C>A (p.Arg146=) rs143863124 0.00428
NM_017654.4(SAMD9):c.257C>T (p.Ser86Phe) rs147157740 0.00428
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886 0.00427
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_001142864.4(PIEZO1):c.4866G>A (p.Glu1622=) rs60253125 0.00426
NM_002296.4(LBR):c.1609T>G (p.Ser537Ala) rs80299691 0.00426
NM_001277115.2(DNAH11):c.6041+18T>C rs72657336 0.00425
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr) rs56815840 0.00424
NM_003126.4(SPTA1):c.1078A>T (p.Thr360Ser) rs34133563 0.00424
NM_003126.4(SPTA1):c.33G>C (p.Glu11Asp) rs41273533 0.00424
NM_001005242.3(PKP2):c.1116T>C (p.Ala372=) rs142742483 0.00423
NM_020433.5(JPH2):c.380-9C>G rs111987307 0.00423
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met) rs191736346 0.00423
NM_000492.4(CFTR):c.-226G>T rs73717525 0.00422
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=) rs28763931 0.00422
NM_001127671.2(LIFR):c.954C>T (p.Thr318=) rs61748202 0.00421
NM_001303256.3(MORC2):c.1737+4C>T rs5997814 0.00421
NM_001354768.3(NRL):c.441G>A (p.Arg147=) rs201197984 0.00421
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_003126.4(SPTA1):c.3398G>C (p.Arg1133Pro) rs35733059 0.00420
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_020366.4(RPGRIP1):c.930+3A>G rs150107283 0.00419
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
NM_001142864.4(PIEZO1):c.2423G>A (p.Arg808Gln) rs202103485 0.00418
NM_000254.3(MTR):c.155G>A (p.Arg52Gln) rs12749581 0.00417
NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro) rs78501403 0.00417
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502 0.00417
NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys) rs34324114 0.00417
NM_006070.6(TFG):c.594T>G (p.Ala198=) rs12562 0.00417
NM_000208.4(INSR):c.870C>T (p.His290=) rs74483718 0.00416
NM_006892.4(DNMT3B):c.1557G>A (p.Gln519=) rs150314851 0.00416
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys) rs150547487 0.00416
NM_147127.5(EVC2):c.307T>C (p.Leu103=) rs140877783 0.00416
NM_000545.8(HNF1A):c.326+6_326+10dup rs56158114 0.00415
NM_000548.5(TSC2):c.5025G>A (p.Pro1675=) rs35118875 0.00415
NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=) rs75413741 0.00415
NM_002471.4(MYH6):c.622G>A (p.Asp208Asn) rs142027794 0.00415
NM_000088.4(COL1A1):c.2127+60T>C rs112502723 0.00414
NM_000141.5(FGFR2):c.159G>A (p.Ala53=) rs1047102 0.00414
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser) rs200970763 0.00414
NM_001458.5(FLNC):c.1902G>A (p.Glu634=) rs12536635 0.00414
NM_002454.3(MTRR):c.1468A>G (p.Thr490Ala) rs41283145 0.00414
NM_014000.3(VCL):c.1177-15C>T rs115083446 0.00414
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_016239.4(MYO15A):c.2562C>T (p.Cys854=) rs182293382 0.00413
NM_000038.6(APC):c.933+30A>G rs145211300 0.00412
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345 0.00412
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_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988 0.00410
NM_003051.4(SLC16A1):c.973A>G (p.Ile325Val) rs116216229 0.00409
NM_005529.7(HSPG2):c.5756G>A (p.Arg1919His) rs62642521 0.00408
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268 0.00408
NM_014845.6(FIG4):c.*14C>T rs114136062 0.00408
NM_032415.7(CARD11):c.3019+6C>T rs199705831 0.00408
NM_000155.4(GALT):c.879C>T (p.Ser293=) rs115527942 0.00407
NM_000335.5(SCN5A):c.717C>T (p.Ile239=) rs41285129 0.00407
NM_001291303.3(FAT4):c.10853C>T (p.Thr3618Met) rs111423173 0.00407
NM_001530.4(HIF1A):c.1253C>T (p.Thr418Ile) rs41508050 0.00407
NM_002246.3(KCNK3):c.654G>T (p.Pro218=) rs34292597 0.00407
NM_004006.3(DMD):c.7542+13A>G rs72466585 0.00407
NM_024577.4(SH3TC2):c.1403C>T (p.Ala468Val) rs6874630 0.00407
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518 0.00406
NM_001142864.4(PIEZO1):c.4439-15G>T rs141469687 0.00406
NM_001267550.2(TTN):c.59165T>C (p.Val19722Ala) rs116592778 0.00406
NM_001457.4(FLNB):c.3090C>T (p.Tyr1030=) rs112968165 0.00406
NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys) rs2230232 0.00406
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln) rs35669708 0.00406
NM_005529.7(HSPG2):c.4132G>A (p.Glu1378Lys) rs62642525 0.00406
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_000089.4(COL1A2):c.2349+16G>C rs112603291 0.00405
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766 0.00405
NM_002439.5(MSH3):c.2254-19T>G rs41562717 0.00405
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894 0.00404
NM_006218.4(PIK3CA):c.2298T>G (p.Leu766=) rs116164892 0.00404
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851 0.00404
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972 0.00404
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser) rs117474773 0.00404
NM_053025.4(MYLK):c.1516A>G (p.Arg506Gly) rs77323602 0.00404
NM_206933.4(USH2A):c.8937A>G (p.Val2979=) rs139100097 0.00404
NM_001142864.4(PIEZO1):c.3456-10G>A rs188761308 0.00403
NM_001458.5(FLNC):c.1549+15C>A rs181134489 0.00403
NM_005529.7(HSPG2):c.3847G>A (p.Val1283Ile) rs62642527 0.00403
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_133379.5(TTN):c.13863G>A (p.Met4621Ile) rs77419653 0.00403
NM_000254.3(MTR):c.2815G>C (p.Gly939Arg) rs113042166 0.00401
NM_000552.5(VWF):c.5170+10C>T rs61750601 0.00400
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243 0.00400
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239 0.00399
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249 0.00399
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 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_017617.5(NOTCH1):c.6870C>T (p.Ser2290=) rs61751488 0.00398
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555 0.00397
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_001142864.4(PIEZO1):c.1281G>A (p.Ala427=) rs146687530 0.00396
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513 0.00396
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988 0.00396
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=) rs140861713 0.00395
NM_000081.4(LYST):c.1686G>C (p.Gln562His) rs77091385 0.00394
NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn) rs61729495 0.00394
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=) rs35225609 0.00394
NM_000188.3(HK1):c.691+13C>T rs41279654 0.00393
NM_003599.4(SUPT3H):c.101+36483_101+36485del rs139788537 0.00393
NM_000254.3(MTR):c.669+20C>T rs200305844 0.00392
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733 0.00392
NM_001807.6(CEL):c.402C>G (p.Gly134=) rs150358550 0.00392
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr) rs141245482 0.00392
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg) rs140566084 0.00391
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp) rs201586455 0.00391
NM_000020.3(ACVRL1):c.-52G>A rs573048639 0.00390
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_016156.6(MTMR2):c.570+11T>C rs182582445 0.00390
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200 0.00389
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser) rs111966833 0.00389
NM_006005.3(WFS1):c.917T>C (p.Met306Thr) rs146114074 0.00389
NM_017636.4(TRPM4):c.870C>T (p.Asn290=) rs141997826 0.00389
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902 0.00388
NM_000355.4(TCN2):c.89T>G (p.Leu30Arg) rs116605132 0.00388
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129 0.00388
NM_000384.3(APOB):c.606A>T (p.Glu202Asp) rs61746672 0.00387
NM_172201.2(KCNE2):c.22A>G (p.Thr8Ala) rs2234916 0.00387
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) rs201531206 0.00386
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00386
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala) rs61749435 0.00385
NM_004168.4(SDHA):c.456+20G>C rs193283468 0.00385
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_003072.5(SMARCA4):c.2001+8T>G rs112549813 0.00384
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) rs61737145 0.00384
NM_000642.3(AGL):c.3384G>A (p.Ala1128=) rs149393587 0.00383
NM_002474.3(MYH11):c.2520+17A>G rs185697714 0.00383
NM_000088.4(COL1A1):c.4005+44G>A rs145008436 0.00381
NM_001042492.3(NF1):c.-22G>C rs556823296 0.00381
NM_003072.5(SMARCA4):c.222+18C>T rs180832203 0.00381
NM_005428.4(VAV1):c.1047G>A (p.Glu349=) rs61750001 0.00381
NM_006790.3(MYOT):c.1008G>T (p.Val336=) rs142828368 0.00381
NM_032119.4(ADGRV1):c.3956G>A (p.Arg1319Gln) rs73181648 0.00381
NM_001127671.2(LIFR):c.420G>A (p.Glu140=) rs142475175 0.00380
NM_014000.3(VCL):c.1542C>T (p.Val514=) rs7904077 0.00380
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601 0.00379
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394 0.00378
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=) rs45517354 0.00377
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=) rs61750051 0.00377
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272 0.00377
NM_000037.4(ANK1):c.2403G>A (p.Lys801=) rs147130318 0.00376
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_000492.4(CFTR):c.-812T>G rs181008242 0.00375
NM_000642.3(AGL):c.2883A>G (p.Arg961=) rs113625417 0.00375
NM_000037.4(ANK1):c.2735+10G>A rs75296105 0.00374
NM_001142864.4(PIEZO1):c.718A>G (p.Ile240Val) rs114403731 0.00374
NM_005529.7(HSPG2):c.9945G>A (p.Thr3315=) rs77713482 0.00374
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) rs148197254 0.00374
NM_000071.3(CBS):c.1039+19C>T rs182908734 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_017636.4(TRPM4):c.1682A>C (p.Asp561Ala) rs56355369 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_000368.5(TSC1):c.1342C>T (p.Pro448Ser) rs118203518 0.00372
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116 0.00372
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498 0.00372
NM_000132.4(F8):c.3621C>T (p.His1207=) rs28370212 0.00371
NM_003850.3(SUCLA2):c.37G>A (p.Val13Met) rs35201084 0.00371
NM_025215.6(PUS1):c.397G>A (p.Asp133Asn) rs76655496 0.00371
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399 0.00370
NM_000243.3(MEFV):c.42G>A (p.Glu14=) rs113314808 0.00369
NM_001134363.3(RBM20):c.3452-10C>T rs60618533 0.00369
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) rs143037290 0.00369
NM_005529.7(HSPG2):c.4176T>C (p.His1392=) rs62642526 0.00369
NM_007078.3(LDB3):c.1263G>A (p.Gly421=) rs139834701 0.00369
NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser) rs9885480 0.00369
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn) rs149202379 0.00369
NM_001498.4(GCLC):c.1563C>T (p.Asp521=) rs2066509 0.00368
NM_002234.4(KCNA5):c.570C>T (p.Asn190=) rs12720444 0.00368
NM_022124.6(CDH23):c.6596T>A (p.Ile2199Asn) rs111033494 0.00368
NM_000435.3(NOTCH3):c.3719-11C>T rs78907190 0.00367
NM_003126.4(SPTA1):c.5911G>A (p.Asp1971Asn) rs116466258 0.00367
NM_001035.3(RYR2):c.13566C>T (p.Val4522=) rs57360419 0.00366
NM_004064.5(CDKN1B):c.426G>A (p.Thr142=) rs149775942 0.00366
NM_004453.4(ETFDH):c.684+13A>C rs149407913 0.00366
NM_014336.5(AIPL1):c.267C>T (p.Cys89=) rs62653020 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_001291303.3(FAT4):c.12855T>C (p.Asp4285=) rs78040862 0.00365
NM_001377.3(DYNC2H1):c.1263C>A (p.Phe421Leu) rs142881106 0.00365
NM_001005361.3(DNM2):c.2543+7C>G rs201979143 0.00364
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=) rs141557400 0.00364
NM_001267550.2(TTN):c.66160+16G>A rs149714835 0.00364
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325 0.00364
NM_004656.4(BAP1):c.1729+8T>C rs150945583 0.00364
NM_052854.4(CREB3L1):c.599A>T (p.Asp200Val) rs187725533 0.00364
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_000051.4(ATM):c.5497-15G>C rs3092828 0.00363
NM_000095.3(COMP):c.2227+8G>A rs116499541 0.00363
NM_001081.4(CUBN):c.10383C>T (p.Ser3461=) rs141937843 0.00363
NM_001999.4(FBN2):c.6511+5G>A rs200608284 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_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_001267550.2(TTN):c.34474C>A (p.Pro11492Thr) rs182428755 0.00362
NM_005257.6(GATA6):c.1602A>G (p.Thr534=) rs146949786 0.00362
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208 0.00361
NM_001005361.3(DNM2):c.236-8C>G rs143084059 0.00361
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_019844.4(SLCO1B3):c.676C>G (p.Leu226Val) rs115227445 0.00361
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_201596.3(CACNB2):c.1488+13_1488+33dup rs757040188 0.00361
NM_001457.4(FLNB):c.2382C>T (p.Asp794=) rs146159035 0.00360
NM_000138.5(FBN1):c.3082+8del rs193922196 0.00359
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382 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_001365951.3(KIF1B):c.2115+6183T>C rs149241091 0.00357
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310 0.00357
NM_002185.5(IL7R):c.132C>T (p.Ser44=) rs11567704 0.00357
NM_020191.4(MRPS22):c.741C>G (p.His247Gln) rs140631494 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_000112.4(SLC26A2):c.*83T>G rs143847430 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_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004 0.00356
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_001042492.3(NF1):c.2252-31A>T rs141082540 0.00355
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944 0.00355
NM_003978.5(PSTPIP1):c.1112C>T (p.Thr371Ile) rs34908107 0.00355
NM_015512.5(DNAH1):c.3090G>A (p.Ala1030=) rs140275399 0.00355
NM_024753.5(TTC21B):c.1571C>G (p.Ser524Cys) rs145436538 0.00355
NM_201596.3(CACNB2):c.873G>A (p.Leu291=) rs138423466 0.00355
NM_000431.4(MVK):c.769-7T>G rs104895331 0.00354
NM_001243133.2(NLRP3):c.1389C>T (p.His463=) rs111400208 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_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777 0.00354
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956 0.00353
NM_012073.5(CCT5):c.1059G>A (p.Leu353=) rs114634318 0.00353
NM_000089.4(COL1A2):c.3849T>C (p.Thr1283=) rs34038163 0.00352
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val) rs41313697 0.00352
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met) rs61751302 0.00352
NM_001142864.4(PIEZO1):c.1297-6G>A rs111945967 0.00352
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) rs41313693 0.00351
NM_000459.5(TEK):c.1346A>G (p.Asn449Ser) rs149684174 0.00351
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099 0.00351
NM_001032386.2(SUOX):c.629C>T (p.Pro210Leu) rs141735896 0.00351
NM_005529.7(HSPG2):c.2850T>C (p.Pro950=) rs115322282 0.00351
NM_014629.4(ARHGEF10):c.38-10T>C rs138713415 0.00351
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_000373.4(UMPS):c.88A>G (p.Ser30Gly) rs17843776 0.00350
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_001005361.3(DNM2):c.1545+14C>G rs114713494 0.00350
NM_001243133.2(NLRP3):c.397+7G>A rs192297357 0.00350
NM_006446.5(SLCO1B1):c.664A>G (p.Ile222Val) rs79135870 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_031229.4(RBCK1):c.756+3G>A rs146804136 0.00350
NM_000188.3(HK1):c.828G>A (p.Glu276=) rs41279658 0.00349
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703 0.00349
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=) rs145955373 0.00349
NM_001105206.3(LAMA4):c.2810A>G (p.Glu937Gly) rs35605307 0.00349
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser) rs17027133 0.00349
NM_006506.5(RASA2):c.17C>T (p.Pro6Leu) rs201352230 0.00349
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_182925.5(FLT4):c.1921C>T (p.Pro641Ser) rs55667289 0.00349
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175 0.00348
NM_012092.4(ICOS):c.58+9T>G rs140049646 0.00348
NM_000208.4(INSR):c.2946-14T>C rs138585749 0.00347
NM_000355.4(TCN2):c.877C>T (p.Leu293=) rs45624233 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_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764 0.00347
NM_022124.6(CDH23):c.2954-14G>A rs191534381 0.00347
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_002863.5(PYGL):c.424+6T>A rs146741789 0.00346
NM_006231.4(POLE):c.5135C>T (p.Ala1712Val) rs5744950 0.00346
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu) rs41308435 0.00346
NM_020297.4(ABCC9):c.2523C>T (p.Ala841=) rs144537241 0.00345
NM_080680.3(COL11A2):c.2520G>A (p.Arg840=) rs117237998 0.00345
NM_000091.5(COL4A3):c.4893C>T (p.Phe1631=) rs183218622 0.00344
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_001377.3(DYNC2H1):c.3012T>C (p.Gly1004=) rs202082545 0.00344
NM_004281.4(BAG3):c.249C>A (p.His83Gln) rs151331972 0.00344
NM_014249.4(NR2E3):c.349+8G>A rs112520386 0.00344
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser) rs2234462 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_017617.5(NOTCH1):c.2207+10G>A rs191892426 0.00343
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972 0.00343
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_000222.3(KIT):c.532G>A (p.Ala178Thr) rs115585711 0.00342
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp) rs13306788 0.00342
NM_006231.4(POLE):c.2468+10C>T rs5744823 0.00342
NM_000243.3(MEFV):c.1467G>A (p.Gln489=) rs61732424 0.00341
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_002661.5(PLCG2):c.1444T>C (p.Tyr482His) rs187956469 0.00341
NM_004637.6(RAB7A):c.495G>A (p.Ala165=) rs146566121 0.00341
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538 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_000089.4(COL1A2):c.975A>T (p.Gly325=) rs148063325 0.00340
NM_000294.3(PHKG2):c.96-10G>T rs74015042 0.00340
NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala) rs61741040 0.00340
NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys) rs5743277 0.00340
NM_000243.3(MEFV):c.333G>A (p.Gly111=) rs61732425 0.00339
NM_001303256.3(MORC2):c.2747+5_2747+6del rs67357185 0.00339
NM_014236.4(GNPAT):c.555A>T (p.Ile185=) rs34613633 0.00339
NM_080680.3(COL11A2):c.2186G>A (p.Arg729Gln) rs61730262 0.00339
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_001142864.4(PIEZO1):c.1072C>T (p.Leu358=) rs145579632 0.00338
NM_004064.5(CDKN1B):c.577C>T (p.Leu193Phe) rs73281150 0.00338
NM_004958.4(MTOR):c.7455C>T (p.Asp2485=) rs41274506 0.00338
NM_005472.5(KCNE3):c.248G>A (p.Arg83His) rs17215437 0.00338
NM_001003800.2(BICD2):c.2445G>A (p.Pro815=) rs34451610 0.00337
NM_174936.4(PCSK9):c.1354+9G>T rs72646516 0.00337
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767 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_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp) rs114251396 0.00335
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=) rs118126378 0.00334
NM_001267550.2(TTN):c.10114+5G>A rs115985443 0.00334
NM_015512.5(DNAH1):c.2204G>A (p.Ser735Asn) rs187636110 0.00334
NM_017433.5(MYO3A):c.949G>C (p.Ala317Pro) rs61731652 0.00334
NM_147127.5(EVC2):c.1224C>T (p.Ala408=) rs114629810 0.00334
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile) rs183413880 0.00334
NM_001291303.3(FAT4):c.12070C>T (p.Arg4024Trp) rs138019311 0.00333
NM_001457.4(FLNB):c.3240G>A (p.Pro1080=) rs77989135 0.00333
NM_005529.7(HSPG2):c.1959A>C (p.Gln653His) rs62642535 0.00333
NM_006363.6(SEC23B):c.221+76A>G rs183784857 0.00333
NM_133379.5(TTN):c.11741C>G (p.Thr3914Arg) rs116593093 0.00333
NM_000142.5(FGFR3):c.1535-8G>T rs111460786 0.00332
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698 0.00332
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr) rs72648923 0.00332
NM_002972.4(SBF1):c.5604T>C (p.Val1868=) rs141053122 0.00332
NM_004360.5(CDH1):c.833-16C>G rs33984587 0.00332
NM_133379.5(TTN):c.12067G>A (p.Gly4023Arg) rs143253411 0.00332
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_000245.4(MET):c.-14-4G>A rs144126521 0.00331
NM_001355436.2(SPTB):c.345T>C (p.Asn115=) rs17180518 0.00330
NM_021815.5(SLC5A7):c.826C>T (p.Leu276=) rs78245030 0.00330
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) rs77351928 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_000398.7(CYB5R3):c.45A>G (p.Pro15=) rs111649710 0.00329
NM_012186.3(FOXE3):c.601G>A (p.Val201Met) rs530072475 0.00329
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_000142.5(FGFR3):c.1014C>T (p.Thr338=) rs4647928 0.00328
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756 0.00328
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300 0.00328
NM_145045.5(ODAD3):c.254G>A (p.Arg85Gln) rs143192349 0.00328
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_001142864.4(PIEZO1):c.5461G>A (p.Gly1821Ser) rs78574543 0.00327
NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val) rs45570339 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_206933.4(USH2A):c.15297+3A>G rs57754754 0.00327
NM_206933.4(USH2A):c.4543A>G (p.Thr1515Ala) rs141671082 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_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363 0.00325
NM_003126.4(SPTA1):c.4477C>T (p.Arg1493Trp) rs35237700 0.00325
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val) rs41561818 0.00325
NM_182961.4(SYNE1):c.21882C>A (p.Gly7294=) rs35106977 0.00325
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr) rs139387758 0.00324
NM_006329.4(FBLN5):c.620-8T>C rs147699855 0.00324
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) rs78540316 0.00323
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_001142864.4(PIEZO1):c.3928G>A (p.Val1310Ile) rs34606201 0.00322
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val) rs72646891 0.00322
NM_001355436.2(SPTB):c.4618A>C (p.Arg1540=) rs61989884 0.00322
NM_001457.4(FLNB):c.3264C>T (p.Ser1088=) rs112864468 0.00322
NM_002335.4(LRP5):c.2139G>A (p.Val713=) rs34369535 0.00322
NM_006017.3(PROM1):c.1497C>T (p.Ile499=) rs113895168 0.00322
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303 0.00322
NM_000254.3(MTR):c.1076-8C>T rs115186224 0.00321
NM_001127671.2(LIFR):c.789A>G (p.Val263=) rs141925289 0.00321
NM_001142864.4(PIEZO1):c.627A>G (p.Ala209=) rs140142474 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_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783 0.00320
NM_000436.4(OXCT1):c.650G>T (p.Arg217Leu) rs142383658 0.00320
NM_001365951.3(KIF1B):c.2115+7031T>C rs149267056 0.00320
NM_021939.4(FKBP10):c.1307T>C (p.Ile436Thr) rs61749879 0.00320
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val) rs140951974 0.00320
NM_000152.5(GAA):c.2571G>T (p.Leu857=) rs17853996 0.00319
NM_000527.5(LDLR):c.67+18C>A rs17242759 0.00319
NM_001457.4(FLNB):c.4222+19A>C rs146229370 0.00319
NM_001355436.2(SPTB):c.4699G>C (p.Asp1567His) rs138126360 0.00318
NM_004333.6(BRAF):c.1227A>G (p.Ser409=) rs145035762 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_000238.4(KCNH2):c.542G>A (p.Arg181Gln) rs41308954 0.00317
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_006363.6(SEC23B):c.835-7A>G rs184484121 0.00317
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_001009944.3(PKD1):c.3296-15G>A rs201704201 0.00316
NM_001110556.2(FLNA):c.1998G>A (p.Ala666=) rs34510365 0.00316
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00316
NM_018979.4(WNK1):c.3654A>G (p.Ser1218=) rs141971833 0.00316
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val) rs41306397 0.00315
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688 0.00315
NM_000398.7(CYB5R3):c.432C>T (p.Gly144=) rs112669378 0.00315
NM_001267550.2(TTN):c.25921+20G>A rs148460010 0.00315
NM_015512.5(DNAH1):c.872-15C>T rs143657729 0.00315
NM_000053.4(ATP7B):c.3557-6C>T rs140708492 0.00314
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912 0.00314
NM_002103.5(GYS1):c.555C>T (p.Gly185=) rs2229612 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_000536.4(RAG2):c.22G>A (p.Val8Ile) rs150762709 0.00313
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) rs143873938 0.00313
NM_001267550.2(TTN):c.31847-17A>G rs72650025 0.00313
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met) rs143543800 0.00313
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263 0.00312
NM_000518.4(HBB):c.-133G>A rs72561473 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_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_002474.3(MYH11):c.5757C>T (p.Arg1919=) rs138168272 0.00312
NM_005529.7(HSPG2):c.13088C>T (p.Ser4363Leu) rs62642502 0.00312
NM_007078.3(LDB3):c.147G>A (p.Val49=) rs45591834 0.00312
NM_024675.4(PALB2):c.1572A>G (p.Ser524=) rs45472400 0.00312
NM_001114753.3(ENG):c.1452C>T (p.Ser484=) rs115450389 0.00311
NM_001114753.3(ENG):c.1510G>A (p.Val504Met) rs116330805 0.00311
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_000089.4(COL1A2):c.122G>A (p.Arg41His) rs139528613 0.00310
NM_001267550.2(TTN):c.30231A>G (p.Pro10077=) rs74324101 0.00310
NM_003126.4(SPTA1):c.679G>A (p.Glu227Lys) rs199598260 0.00310
NM_004656.4(BAP1):c.1002A>G (p.Leu334=) rs28997577 0.00310
NM_015512.5(DNAH1):c.11788-14C>T rs141567808 0.00310
NM_015512.5(DNAH1):c.12375A>T (p.Thr4125=) rs61734637 0.00310
NM_017636.4(TRPM4):c.3611C>T (p.Pro1204Leu) rs150391806 0.00310
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_000371.4(TTR):c.336+19G>A rs75517067 0.00309
NM_002471.4(MYH6):c.1071C>T (p.Ile357=) rs58131640 0.00309
NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly) rs34644609 0.00309
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134 0.00309
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847 0.00308
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val) rs61747625 0.00307
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_003126.4(SPTA1):c.793A>G (p.Asn265Asp) rs183647059 0.00307
NM_004006.3(DMD):c.802T>C (p.Leu268=) rs1800264 0.00307
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632 0.00307
NM_000384.3(APOB):c.8353A>C (p.Asn2785His) rs2163204 0.00306
NM_000435.3(NOTCH3):c.2202C>T (p.Ala734=) rs140040122 0.00306
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795 0.00306
NM_001127671.2(LIFR):c.2498-7G>A rs113078097 0.00306
NM_001498.4(GCLC):c.1478-16C>A rs185146268 0.00306
NM_001853.4(COL9A3):c.1427C>G (p.Pro476Arg) rs142066316 0.00306
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) rs1801696 0.00305
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His) rs112062179 0.00305
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_005633.4(SOS1):c.2673+14T>C rs183998234 0.00304
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) rs34000644 0.00304
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280 0.00303
NM_000035.4(ALDOB):c.156T>G (p.Thr52=) rs149671008 0.00302
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906 0.00302
NM_015512.5(DNAH1):c.10422T>C (p.Leu3474=) rs148913561 0.00302
NM_015512.5(DNAH1):c.2744A>G (p.Asn915Ser) rs61734643 0.00302
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_001199397.3(NEK1):c.3285C>T (p.Pro1095=) rs140408058 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_001039213.4(CEACAM16):c.738G>A (p.Thr246=) rs199779296 0.00300
NM_015512.5(DNAH1):c.4263C>T (p.Pro1421=) rs61739897 0.00300
NM_001130823.3(DNMT1):c.891+8C>T rs117294281 0.00299
NM_002615.7(SERPINF1):c.85-14C>T rs200755661 0.00299
NM_004655.4(AXIN2):c.1530G>A (p.Thr510=) rs141014640 0.00299
NM_006445.4(PRPF8):c.2493C>G (p.Ser831=) rs146749363 0.00299
NM_003978.5(PSTPIP1):c.908C>T (p.Pro303Leu) rs189773500 0.00298
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_000431.4(MVK):c.226+4A>G rs145732290 0.00297
NM_000548.5(TSC2):c.228C>T (p.His76=) rs45517097 0.00297
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_003482.4(KMT2D):c.13644C>T (p.Ser4548=) rs201119371 0.00297
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765 0.00297
NM_000142.5(FGFR3):c.1076-16G>A rs3135889 0.00296
NM_000162.5(GCK):c.46-12C>T rs142829768 0.00296
NM_001142864.4(PIEZO1):c.4356G>C (p.Val1452=) rs557970560 0.00296
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00296
NM_031475.3(ESPN):c.1386A>G (p.Val462=) rs150033799 0.00296
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000435.3(NOTCH3):c.2411-4C>G rs190177286 0.00295
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile) rs148278887 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_002691.4(POLD1):c.778A>G (p.Ile260Val) rs8105725 0.00295
NM_003954.5(MAP3K14):c.114C>T (p.Ser38=) rs143313926 0.00295
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654 0.00294
NM_144687.4(NLRP12):c.1437G>A (p.Gln479=) rs77667763 0.00294
NM_000053.4(ATP7B):c.2355+13T>G rs139211339 0.00293
NM_000238.4(KCNH2):c.3152+12C>A rs72549420 0.00293
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=) rs73038337 0.00293
NM_002296.4(LBR):c.995C>T (p.Ala332Val) rs141647564 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_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203 0.00293
NM_206933.4(USH2A):c.14454G>A (p.Pro4818=) rs137902779 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_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437 0.00292
NM_002473.6(MYH9):c.5181G>A (p.Leu1727=) rs115170675 0.00292
NM_007375.4(TARDBP):c.198T>C (p.Ala66=) rs61730366 0.00292
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His) rs34615430 0.00292
NM_024422.6(DSC2):c.1264-5C>T rs183614856 0.00292
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_001370466.1(NOD2):c.485C>T (p.Thr162Met) rs61755182 0.00291
NM_003126.4(SPTA1):c.1731G>T (p.Leu577Phe) rs34211240 0.00291
NM_005529.7(HSPG2):c.9514-3C>T rs114851424 0.00291
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00291
NM_000059.4(BRCA2):c.7805+6C>G rs81002819 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_002691.4(POLD1):c.1977C>T (p.Ile659=) rs45605236 0.00290
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_006031.6(PCNT):c.6933C>T (p.Val2311=) rs148444313 0.00289
NM_015512.5(DNAH1):c.1286+16G>A rs190176840 0.00289
NM_020661.4(AICDA):c.74G>A (p.Arg25His) rs61730095 0.00289
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575 0.00288
NM_001291303.3(FAT4):c.4303A>G (p.Ile1435Val) rs142747281 0.00288
NM_001322934.2(NFKB2):c.21+13G>A rs199513883 0.00288
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_003114.5(SPAG1):c.1414A>G (p.Ile472Val) rs373038988 0.00288
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780 0.00288
NM_007078.3(LDB3):c.2016C>T (p.Cys672=) rs45578640 0.00288
NM_181882.3(PRX):c.3846G>A (p.Ser1282=) rs143289108 0.00288
NM_000051.4(ATM):c.3993+5G>T rs3092842 0.00287
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898 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_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926 0.00287
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile) rs72466496 0.00287
NM_020529.3(NFKBIA):c.581G>C (p.Gly194Ala) rs148656104 0.00287
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_201548.5(CERKL):c.66C>G (p.Pro22=) rs199762900 0.00287
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00286
NM_001355436.2(SPTB):c.4236C>T (p.Thr1412=) rs229639 0.00286
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439 0.00286
NM_001458.5(FLNC):c.4928-7T>C rs201957008 0.00286
NM_006883.2(SHOX):c.676T>C (p.Ter226Arg) rs778160013 0.00286
NM_001114134.2(EPB42):c.1279C>T (p.Arg427Cys) rs45594632 0.00285
NM_001235.5(SERPINH1):c.744C>T (p.Asp248=) rs61733248 0.00285
NM_020779.4(WDR35):c.2262C>T (p.Asp754=) rs147206032 0.00285
NM_203486.3(DLL3):c.160C>A (p.Leu54Ile) rs200673897 0.00285
NM_000335.5(SCN5A):c.2436+12G>A rs41312419 0.00284
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644 0.00284
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001 0.00284
NM_002471.4(MYH6):c.2071G>A (p.Val691Ile) rs148915045 0.00284
NM_003978.5(PSTPIP1):c.236C>T (p.Ser79Phe) rs77026017 0.00284
NM_005591.4(MRE11):c.1783+5G>C rs142082313 0.00284
NM_000518.5(HBB):c.*96T>C rs34029390 0.00283
NM_001035.3(RYR2):c.1218G>A (p.Ser406=) rs147389346 0.00283
NM_006506.5(RASA2):c.1603A>G (p.Ile535Val) rs143035190 0.00283
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546 0.00283
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
NM_000552.5(VWF):c.4457C>T (p.Ser1486Leu) rs149424724 0.00282
NM_001148.6(ANK2):c.10395G>A (p.Glu3465=) rs147423696 0.00282
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His) rs181104321 0.00282
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=) rs1800219 0.00281
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) rs2229073 0.00281
NM_006363.6(SEC23B):c.993+19G>A rs144225458 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_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile) rs34203644 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_016373.4(WWOX):c.816G>T (p.Leu272Phe) rs186745328 0.00280
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048 0.00279
NM_001184.4(ATR):c.7504-16A>G rs111927479 0.00279
NM_001303256.3(MORC2):c.226+18T>C rs114021247 0.00279
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349 0.00279
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_001369.3(DNAH5):c.299G>C (p.Gly100Ala) rs144236383 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_002890.3(RASA1):c.209A>G (p.Glu70Gly) rs146525982 0.00278
NM_032578.4(MYPN):c.1079-18T>C rs114932559 0.00278
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_001142864.4(PIEZO1):c.835G>A (p.Gly279Ser) rs188815734 0.00277
NM_003640.5(ELP1):c.286A>G (p.Ser96Gly) rs35942802 0.00277
NM_004563.4(PCK2):c.1756G>A (p.Gly586Ser) rs61737098 0.00277
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val) rs55791823 0.00277
NM_145045.5(ODAD3):c.1203G>A (p.Arg401=) rs199934107 0.00277
NM_000152.5(GAA):c.1552-13G>A rs111261964 0.00276
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862 0.00276
NM_001365088.1(SLC12A6):c.271+17825C>T rs150751809 0.00276
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_003172.4(SURF1):c.54+10G>A rs587598397 0.00276
NM_004100.5(EYA4):c.804+16G>T rs13362743 0.00276
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly) rs35297226 0.00276
NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys) rs145337669 0.00275
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086 0.00275
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val) rs145207584 0.00275
NM_206933.4(USH2A):c.6041A>C (p.Asn2014Thr) rs147883884 0.00275
NM_000059.4(BRCA2):c.67+62T>G rs11571574 0.00274
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437 0.00274
NM_001142864.4(PIEZO1):c.3935C>T (p.Ala1312Val) rs34246477 0.00274
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu) rs72646840 0.00274
NM_001364905.1(LRBA):c.6448+17A>G rs183652080 0.00274
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222 0.00274
NM_006005.3(WFS1):c.2205C>T (p.Tyr735=) rs71530911 0.00274
NM_006158.5(NEFL):c.584C>T (p.Ala195Val) rs185200977 0.00274
NM_017636.4(TRPM4):c.1368C>G (p.Thr456=) rs56118173 0.00274
NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494 0.00274
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=) rs17850194 0.00273
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272
NM_002109.6(HARS1):c.614G>A (p.Gly205Asp) rs147288996 0.00272
NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile) rs141292904 0.00272
NM_016938.5(EFEMP2):c.368-11G>A rs181514768 0.00272
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu) rs56226109 0.00271
NM_001395413.1(POR):c.674C>T (p.Pro225Leu) rs17853284 0.00271
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) rs45550635 0.00271
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=) rs138198461 0.00271
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_002439.5(MSH3):c.2511G>A (p.Leu837=) rs149628160 0.00270
NM_018979.4(WNK1):c.5583+3A>G rs72650758 0.00270
NM_024426.6(WT1):c.181C>A (p.Arg61=) rs2234581 0.00270
NM_147127.5(EVC2):c.3659+8T>C rs200119306 0.00270
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys) rs147689373 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_001457.4(FLNB):c.362A>T (p.Tyr121Phe) rs147846832 0.00269
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu) rs114435632 0.00269
NM_018979.4(WNK1):c.5281-4G>A rs72650740 0.00269
NM_000051.4(ATM):c.7630-17T>C rs116047570 0.00268
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_001159773.2(CANT1):c.1172G>A (p.Gly391Glu) rs34082669 0.00268
NM_005026.5(PIK3CD):c.1809G>C (p.Leu603=) rs151278626 0.00268
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_006182.4(DDR2):c.1382C>T (p.Ser461Leu) rs140710321 0.00268
NM_194248.3(OTOF):c.2215-80T>C rs143141993 0.00268
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu) rs72653095 0.00267
NM_001148.6(ANK2):c.4152T>C (p.Asp1384=) rs116128106 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_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_006899.5(IDH3B):c.74G>A (p.Gly25Asp) rs113021673 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_001148.6(ANK2):c.3543C>T (p.Ala1181=) rs76685232 0.00265
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=) rs140350441 0.00265
NM_001358263.1(HK1):c.53T>C (p.Leu18Pro) rs79002951 0.00265
NM_144687.4(NLRP12):c.2701G>C (p.Val901Leu) rs104895568 0.00265
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943 0.00264
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811 0.00264
NM_001614.5(ACTG1):c.471C>T (p.Asp157=) rs11549222 0.00264
NM_003126.4(SPTA1):c.5838T>C (p.Asp1946=) rs200330662 0.00264
NM_014639.4(SKIC3):c.4344A>G (p.Leu1448=) rs139074002 0.00264
NM_016239.4(MYO15A):c.4779+9G>A rs183256997 0.00264
NM_078470.6(COX15):c.1026C>T (p.Phe342=) rs147724430 0.00264
NM_000557.5(GDF5):c.388G>A (p.Gly130Arg) rs114550865 0.00263
NM_001267550.2(TTN):c.70952T>G (p.Ile23651Ser) rs149075285 0.00263
NM_022041.4(GAN):c.1502+11A>G rs143413333 0.00263
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949 0.00262
NM_004958.4(MTOR):c.985G>A (p.Ala329Thr) rs35903812 0.00262
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722 0.00262
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala) rs201763096 0.00262
NM_000037.4(ANK1):c.5097-34C>T rs185434561 0.00261
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_001999.4(FBN2):c.4206C>T (p.Asn1402=) rs34201226 0.00261
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240 0.00261
NM_005529.7(HSPG2):c.7511G>A (p.Arg2504His) rs62642517 0.00261
NM_020297.4(ABCC9):c.2093-7T>C rs185235724 0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_000341.4(SLC3A1):c.231T>A (p.Ser77=) rs146630359 0.00260
NM_001457.4(FLNB):c.292+14C>G rs200721532 0.00260
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869 0.00260
NM_021625.5(TRPV4):c.712+10C>T rs115657305 0.00260
NM_052945.4(TNFRSF13C):c.60C>T (p.Val20=) rs373828157 0.00260
NM_000090.4(COL3A1):c.3039+16T>G rs41264443 0.00259
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224 0.00259
NM_002230.4(JUP):c.2025T>C (p.His675=) rs140670556 0.00259
NM_003126.4(SPTA1):c.1817A>G (p.Asp606Gly) rs149441716 0.00259
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409 0.00259
NM_001077350.3(NPRL3):c.1024G>T (p.Val342Leu) rs11558704 0.00258
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890 0.00258
NM_002230.4(JUP):c.1159-13C>A rs201627219 0.00258
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689 0.00258
NM_006182.4(DDR2):c.1504+11T>C rs77385055 0.00258
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser) rs41281310 0.00258
NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr) rs72648913 0.00258
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036 0.00257
NM_000517.6(HBA2):c.300+64A>G rs111264741 0.00257
NM_000744.7(CHRNA4):c.9A>G (p.Leu3=) rs80075498 0.00257
NM_002474.3(MYH11):c.5691C>T (p.Asn1897=) rs149566621 0.00257
NM_000541.5(SAG):c.734-18C>A rs139840815 0.00256
NM_001003800.2(BICD2):c.454-19T>C rs114997314 0.00256
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) rs3027927 0.00256
NM_001148.6(ANK2):c.3366C>T (p.Asn1122=) rs114896457 0.00256
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667 0.00256
NM_014000.3(VCL):c.2025G>A (p.Val675=) rs140766884 0.00256
NM_000038.6(APC):c.3264G>A (p.Lys1088=) rs114774495 0.00255
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_001130823.3(DNMT1):c.4773+18C>T rs183300496 0.00255
NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val) rs139506970 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_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) rs61746518 0.00255
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=) rs79125791 0.00254
NM_000055.4(BCHE):c.635C>T (p.Ala212Val) rs114706984 0.00254
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr) rs114015043 0.00254
NM_201253.3(CRB1):c.600A>G (p.Thr200=) rs77713666 0.00254
NM_000037.4(ANK1):c.981C>T (p.Tyr327=) rs61758867 0.00253
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500 0.00253
NM_002691.4(POLD1):c.433G>A (p.Ala145Thr) rs137953986 0.00253
NM_021815.5(SLC5A7):c.713A>G (p.Tyr238Cys) rs142776152 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_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_001458.5(FLNC):c.4737+15A>G rs182734223 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_022114.4(PRDM16):c.100G>A (p.Ala34Thr) rs187194973 0.00252
NM_001105206.3(LAMA4):c.4314A>C (p.Ser1438=) rs77367833 0.00251
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) rs142647321 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_001999.4(FBN2):c.8247A>G (p.Thr2749=) rs116413101 0.00251
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) rs77138370 0.00251
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_000243.3(MEFV):c.97G>T (p.Val33Leu) rs11466016 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_003114.5(SPAG1):c.1226C>G (p.Thr409Ser) rs544372581 0.00250
NM_003126.4(SPTA1):c.798A>G (p.Leu266=) rs36058424 0.00250
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe) rs115198029 0.00250
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123 0.00250
NM_021939.4(FKBP10):c.1734C>T (p.Val578=) rs115239900 0.00250
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) rs72552027 0.00249
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His) rs199612744 0.00249
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_018706.7(DHTKD1):c.628G>T (p.Ala210Ser) rs146741810 0.00249
NM_000243.3(MEFV):c.1587+18C>T rs11466030 0.00248
NM_001360.3(DHCR7):c.399C>T (p.Ala133=) rs147424205 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_020297.4(ABCC9):c.407-14C>A rs201279882 0.00248
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369 0.00248
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00247
NM_000257.4(MYH7):c.3853+7C>T rs45467397 0.00247
NM_000384.3(APOB):c.1785C>G (p.Ser595=) rs139864087 0.00247
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077 0.00247
NM_001853.4(COL9A3):c.1549-4C>A rs190389066 0.00247
NM_014000.3(VCL):c.2023-20A>G rs143756084 0.00247
NM_020631.6(PLEKHG5):c.928G>A (p.Asp310Asn) rs61730399 0.00247
NM_022489.4(INF2):c.2458C>T (p.Arg820Trp) rs79327775 0.00247
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) rs116302615 0.00246
NM_003467.3(CXCR4):c.783C>T (p.Ile261=) rs148279552 0.00246
NM_000051.4(ATM):c.2921+19dup rs56112367 0.00245
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141 0.00245
NM_000088.4(COL1A1):c.4257C>T (p.Thr1419=) rs144134990 0.00245
NM_001127671.2(LIFR):c.2447A>G (p.Asp816Gly) rs74856317 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_017950.4(CCDC40):c.334A>G (p.Thr112Ala) rs201709592 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_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513 0.00243
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260 0.00243
NM_001711.6(BGN):c.357C>T (p.Leu119=) rs146322407 0.00243
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_003126.4(SPTA1):c.4302G>A (p.Lys1434=) rs77182042 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_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_000089.4(COL1A2):c.595-20C>T rs192022673 0.00242
NM_000089.4(COL1A2):c.96+10C>T rs185341110 0.00242
NM_000384.3(APOB):c.4825T>C (p.Leu1609=) rs72653083 0.00242
NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu) rs150687987 0.00242
NM_002474.3(MYH11):c.453G>A (p.Pro151=) rs61734199 0.00242
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196 0.00241
NM_002838.5(PTPRC):c.1568A>T (p.Glu523Val) rs116464756 0.00241
NM_003072.5(SMARCA4):c.2757C>T (p.Pro919=) rs113955216 0.00241
NM_030777.4(SLC2A10):c.1548G>T (p.Arg516=) rs116344406 0.00241
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu) rs147106995 0.00240
NM_000384.3(APOB):c.3843C>T (p.Ser1281=) rs72653079 0.00240
NM_000557.5(GDF5):c.652A>C (p.Arg218=) rs116467702 0.00240
NM_001042492.3(NF1):c.655-29T>C rs182325576 0.00240
NM_001711.6(BGN):c.573C>T (p.Gly191=) rs148808913 0.00240
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=) rs113154524 0.00240
NM_005138.3(SCO2):c.201C>T (p.Phe67=) rs61748568 0.00240
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys) rs5744933 0.00240
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974 0.00240
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser) rs149748934 0.00240
NM_177438.3(DICER1):c.1377-4T>G rs192490028 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_001005242.3(PKP2):c.1171-11T>C rs183414126 0.00239
NM_001035.3(RYR2):c.6441-19C>T rs140440259 0.00239
NM_004444.5(EPHB4):c.1144G>A (p.Gly382Ser) rs114926839 0.00239
NM_004990.4(MARS1):c.2204+11G>A rs202080192 0.00239
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566 0.00238
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys) rs72629785 0.00238
NM_002471.4(MYH6):c.1449C>T (p.Asn483=) rs145447555 0.00238
NM_003482.4(KMT2D):c.6573G>A (p.Thr2191=) rs202085637 0.00238
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=) rs61751536 0.00238
NM_194454.3(KRIT1):c.1095A>G (p.Gly365=) rs143710815 0.00238
NM_000316.3(PTH1R):c.128G>A (p.Arg43His) rs141466964 0.00237
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_001378183.1(PIEZO2):c.7326C>T (p.Tyr2442=) rs72970080 0.00237
NM_005529.7(HSPG2):c.10110G>A (p.Lys3370=) rs141963344 0.00237
NM_000326.5(RLBP1):c.9A>C (p.Glu3Asp) rs146844731 0.00236
NM_000557.5(GDF5):c.462C>A (p.Pro154=) rs150686636 0.00236
NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=) rs201683984 0.00236
NM_001291303.3(FAT4):c.1128G>A (p.Val376=) rs202216461 0.00236
NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile) rs200342335 0.00236
NM_001605.3(AARS1):c.1672-4T>A rs187509039 0.00236
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro) rs78135392 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_032119.4(ADGRV1):c.22+9T>C rs368604803 0.00236
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839 0.00235
NM_000089.4(COL1A2):c.2700C>T (p.Ala900=) rs141688356 0.00235
NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp) rs116836001 0.00235
NM_001035.3(RYR2):c.2204-16G>T rs368648602 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_003073.5(SMARCB1):c.628+13C>T rs184021903 0.00235
NM_004168.4(SDHA):c.313-19G>T rs185555941 0.00235
NM_006904.7(PRKDC):c.5120T>A (p.Leu1707Gln) rs202110076 0.00235
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=) rs186453356 0.00235
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys) rs139441507 0.00235
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_182925.5(FLT4):c.4006G>A (p.Glu1336Lys) rs201796032 0.00234
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089 0.00233
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953 0.00233
NM_002439.5(MSH3):c.2732T>G (p.Leu911Trp) rs41545019 0.00233
NM_005633.4(SOS1):c.570C>T (p.Asp190=) rs55980502 0.00233
NM_007294.4(BRCA1):c.114G>A (p.Lys38=) rs1800062 0.00233
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val) rs148242353 0.00233
NM_001037.5(SCN1B):c.267C>T (p.Arg89=) rs140949982 0.00232
NM_001457.4(FLNB):c.4377T>C (p.Val1459=) rs149921907 0.00232
NM_002471.4(MYH6):c.1275C>T (p.Ile425=) rs61742470 0.00232
NM_003978.5(PSTPIP1):c.543G>A (p.Lys181=) rs375950478 0.00232
NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln) rs137974620 0.00232
NM_004304.5(ALK):c.1943C>T (p.Thr648Ile) rs116202066 0.00232
NM_145309.6(LRRC51):c.255C>T (p.Asp85=) rs145851613 0.00232
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438 0.00231
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855 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_002473.6(MYH9):c.7C>G (p.Gln3Glu) rs56200894 0.00231
NM_003000.3(SDHB):c.170A>G (p.His57Arg) rs35962811 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_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_001243133.2(NLRP3):c.1920C>T (p.Phe640=) rs34698071 0.00230
NM_001303256.3(MORC2):c.63A>G (p.Thr21=) rs73156742 0.00230
NM_001852.4(COL9A2):c.1981C>A (p.Pro661Thr) rs140041506 0.00230
NM_005257.6(GATA6):c.1374C>T (p.Asn458=) rs143026087 0.00230
NM_001142864.4(PIEZO1):c.4580G>A (p.Arg1527His) rs148870219 0.00229
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231 0.00229
NM_001457.4(FLNB):c.274A>G (p.Ile92Val) rs62622011 0.00229
NM_053025.4(MYLK):c.24C>G (p.Ala8=) rs78118111 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_000069.3(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482 0.00228
NM_001105206.3(LAMA4):c.5450T>C (p.Ile1817Thr) rs144482486 0.00228
NM_001244008.2(KIF1A):c.4889G>A (p.Arg1630Gln) rs191428830 0.00228
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238 0.00228
NM_001358263.1(HK1):c.28-3347T>A rs186567171 0.00228
NM_001365951.3(KIF1B):c.2330A>G (p.Asn777Ser) rs117525287 0.00228
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_005518.4(HMGCS2):c.1419G>A (p.Lys473=) rs142776952 0.00228
NM_014000.3(VCL):c.1671C>T (p.Asp557=) rs137877092 0.00228
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608 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_001303256.3(MORC2):c.2238A>G (p.Glu746=) rs41279975 0.00227
NM_182925.5(FLT4):c.3908G>C (p.Gly1303Ala) rs146806202 0.00227
NM_001093.4(ACACB):c.134A>G (p.Gln45Arg) rs139767464 0.00226
NM_012092.4(ICOS):c.451G>C (p.Val151Leu) rs76778263 0.00226
NM_000552.5(VWF):c.385C>A (p.Leu129Met) rs61753991 0.00225
NM_001114134.2(EPB42):c.894C>T (p.Thr298=) rs35719500 0.00225
NM_001142864.4(PIEZO1):c.7426C>T (p.Arg2476Cys) rs144035770 0.00225
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217 0.00225
NM_021625.5(TRPV4):c.1824+4C>T rs147259744 0.00225
NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val) rs200840285 0.00224
NM_001382430.1(AKT1):c.1020C>T (p.Tyr340=) rs144088506 0.00224
NM_003978.5(PSTPIP1):c.786C>T (p.Asp262=) rs35860563 0.00224
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu) rs114137983 0.00224
NM_000016.6(ACADM):c.469-9A>G rs181322317 0.00223
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp) rs3729799 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_004990.4(MARS1):c.280-14C>T rs183195960 0.00223
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) rs61735401 0.00223
NM_016938.5(EFEMP2):c.368-4G>A rs111550973 0.00223
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00223
NM_000088.4(COL1A1):c.999C>T (p.Pro333=) rs62637627 0.00222
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863 0.00222
NM_000435.3(NOTCH3):c.2507C>T (p.Thr836Ile) rs34338511 0.00222
NM_000492.4(CFTR):c.1210-13del rs750294275 0.00222
NM_000552.5(VWF):c.3089A>G (p.Gln1030Arg) rs145125264 0.00222
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481 0.00222
NM_001033855.3(DCLRE1C):c.1008C>T (p.Asn336=) rs115524993 0.00222
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) rs138576504 0.00222
NM_001355436.2(SPTB):c.1896A>G (p.Gln632=) rs74056006 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_005343.4(HRAS):c.477G>A (p.Leu159=) rs140060409 0.00222
NM_006506.5(RASA2):c.1020+20G>A rs113251297 0.00222
NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314 0.00221
NM_005359.6(SMAD4):c.1140-10T>C rs186332162 0.00221
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) rs41278630 0.00221
NM_000089.4(COL1A2):c.594+5A>T rs200744314 0.00220
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 0.00220
NM_002439.5(MSH3):c.1571A>C (p.Asn524Thr) rs55724159 0.00220
NM_002529.4(NTRK1):c.254G>A (p.Arg85His) rs79678945 0.00220
NM_005051.3(QARS1):c.25C>A (p.Leu9Ile) rs62621067 0.00220
NM_005529.7(HSPG2):c.9789C>A (p.Leu3263=) rs137921473 0.00220
NM_014336.5(AIPL1):c.516T>C (p.His172=) rs62637017 0.00220
NM_021254.4(CFAP298):c.77A>C (p.Glu26Ala) rs138178722 0.00220
NM_147127.5(EVC2):c.2151C>T (p.His717=) rs144584049 0.00220
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) rs76337075 0.00219
NM_001377.3(DYNC2H1):c.9254C>T (p.Ala3085Val) rs202071528 0.00219
NM_001379610.1(SPINK1):c.88-23A>T rs199929811 0.00219
NM_002474.3(MYH11):c.3652-6C>T rs193922630 0.00219
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu) rs144751390 0.00219
NM_080680.3(COL11A2):c.3583-5T>C rs183536190 0.00219
NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp) rs41290646 0.00218
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171 0.00218
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His) rs114711705 0.00218
NM_001303256.3(MORC2):c.2841+20C>T rs192723178 0.00218
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599 0.00218
NM_004281.4(BAG3):c.-17G>A rs200388926 0.00218
NM_177438.3(DICER1):c.485G>A (p.Gly162Asp) rs142815547 0.00218
NM_182925.5(FLT4):c.3681C>T (p.Ala1227=) rs140710164 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_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met) rs141320511 0.00217
NM_001267550.2(TTN):c.1398+18A>G rs72647849 0.00217
NM_001291303.3(FAT4):c.524G>T (p.Arg175Leu) rs143534324 0.00217
NM_001457.4(FLNB):c.4362G>A (p.Pro1454=) rs150844992 0.00217
NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln) rs34935550 0.00217
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) rs56157422 0.00217
NM_005529.7(HSPG2):c.11937C>T (p.Phe3979=) rs143431746 0.00217
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_000152.5(GAA):c.2647-8C>T rs139201641 0.00216
NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe) rs140639805 0.00216
NM_001199397.3(NEK1):c.782G>A (p.Arg261His) rs200161705 0.00216
NM_001366110.1(PAX4):c.456C>T (p.Val152=) rs61749955 0.00216
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804 0.00216
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln) rs137934837 0.00216
NM_000051.4(ATM):c.370A>G (p.Ile124Val) rs148590073 0.00215
NM_001126121.2(SLC25A19):c.483C>T (p.Ala161=) rs142281464 0.00215
NM_001177316.2(SLC34A3):c.1454G>A (p.Arg485His) rs138872455 0.00215
NM_001267550.2(TTN):c.32367G>A (p.Lys10789=) rs79232842 0.00215
NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly) rs200513156 0.00215
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00215
NM_006070.6(TFG):c.415+16A>G rs201290760 0.00215
NM_014915.3(ANKRD26):c.2679A>G (p.Gln893=) rs61730098 0.00215
NM_000112.4(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171 0.00214
NM_001009944.3(PKD1):c.7863+11C>T rs368629973 0.00214
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=) rs370286749 0.00214
NM_001267550.2(TTN):c.34505G>T (p.Gly11502Val) rs190209925 0.00214
NM_020433.5(JPH2):c.562C>T (p.Pro188Ser) rs574746149 0.00214
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141 0.00213
NM_000311.5(PRNP):c.372C>G (p.Gly124=) rs201423990 0.00213
NM_000435.3(NOTCH3):c.2300G>A (p.Arg767His) rs75291244 0.00213
NM_002047.4(GARS1):c.1031+14T>G rs189589556 0.00213
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro) rs41268014 0.00213
NM_000077.5(CDKN2A):c.150+37G>C rs45456595 0.00212
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307 0.00212
NM_001303.4(COX10):c.1291C>T (p.Arg431Trp) rs113058506 0.00212
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=) rs180787556 0.00212
NM_001458.5(FLNC):c.2889G>A (p.Pro963=) rs191892345 0.00212
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) rs144888041 0.00212
NM_053025.4(MYLK):c.755-12C>T rs138877679 0.00212
NM_147127.5(EVC2):c.463T>C (p.Ser155Pro) rs143388379 0.00212
NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=) rs144520412 0.00211
NM_004006.3(DMD):c.31+36946C>T rs186833917 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_000016.6(ACADM):c.127G>A (p.Glu43Lys) rs147559466 0.00210
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn) rs72749169 0.00210
NM_000091.5(COL4A3):c.4665G>A (p.Ala1555=) rs200858199 0.00210
NM_001105206.3(LAMA4):c.5016T>A (p.Ile1672=) rs148517180 0.00210
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_000037.4(ANK1):c.*8C>A rs146341756 0.00209
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) rs150441555 0.00209
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=) rs1051360 0.00209
NM_001142864.4(PIEZO1):c.1998-10C>T rs74033378 0.00209
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=) rs138240658 0.00209
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_020297.4(ABCC9):c.3768T>C (p.Leu1256=) rs150303433 0.00209
NM_020631.6(PLEKHG5):c.307G>A (p.Val103Met) rs141032388 0.00209
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628 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_001148.6(ANK2):c.6648C>G (p.Gly2216=) rs140926982 0.00208
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala) rs182491843 0.00208
NM_002471.4(MYH6):c.3979-7dup rs545343612 0.00208
NM_002890.3(RASA1):c.1371G>A (p.Lys457=) rs140707293 0.00208
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877 0.00208
NM_004356.4(CD81):c.414T>C (p.Asp138=) rs143644902 0.00208
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter) rs61752842 0.00208
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=) rs3219160 0.00208
NM_000335.5(SCN5A):c.354C>T (p.His118=) rs45533640 0.00207
NM_001005242.3(PKP2):c.1379-18A>G rs113698150 0.00207
NM_001035.3(RYR2):c.2396+17T>G rs376363428 0.00207
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr) rs139872140 0.00207
NM_001458.5(FLNC):c.2507C>A (p.Pro836Gln) rs199652368 0.00207
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) rs61889560 0.00207
NM_005518.4(HMGCS2):c.1522G>A (p.Val508Ile) rs76773981 0.00207
NM_006363.6(SEC23B):c.1595G>C (p.Gly532Ala) rs143456757 0.00207
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_147127.5(EVC2):c.18C>T (p.Ser6=) rs556910528 0.00207
NM_000484.4(APP):c.2212-11_2212-10del rs112965435 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_005529.7(HSPG2):c.7191G>A (p.Ala2397=) rs2290499 0.00206
NM_000132.4(F8):c.2947G>A (p.Val983Ile) rs35295375 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_001105206.3(LAMA4):c.924T>C (p.His308=) rs143580603 0.00205
NM_001114134.2(EPB42):c.453T>C (p.Asn151=) rs114136713 0.00205
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile) rs11900987 0.00205
NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser) rs151271754 0.00205
NM_001999.4(FBN2):c.7471+6G>A rs200998513 0.00205
NM_016239.4(MYO15A):c.5287C>T (p.Arg1763Trp) rs200146361 0.00205
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_153717.3(EVC):c.939+9C>T rs201282320 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_000256.3(MYBPC3):c.2309-27G>A rs150212048 0.00204
NM_000289.6(PFKM):c.2199-12A>G rs202008060 0.00204
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr) rs55837610 0.00204
NM_001365304.2(LOC112694756):c.*621+4C>T rs200278984 0.00204
NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr) rs148261539 0.00204
NM_005548.3(KARS1):c.1258C>T (p.Arg420Cys) rs77573084 0.00204
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) rs115346085 0.00204
NM_080680.3(COL11A2):c.4458T>A (p.Gly1486=) rs143186319 0.00204
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865 0.00203
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_001005242.3(PKP2):c.2168-19T>A rs527736735 0.00203
NM_001457.4(FLNB):c.1472T>C (p.Met491Thr) rs147575358 0.00203
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) rs148378319 0.00203
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser) rs145277501 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_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892 0.00202
NM_001159773.2(CANT1):c.801C>T (p.Asn267=) rs138199925 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_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln) rs150374940 0.00202
NM_000463.3(UGT1A1):c.540A>G (p.Glu180=) rs148755655 0.00201
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557 0.00201
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_000492.3(CFTR):c.-461A>G rs185028612 0.00200
NM_000719.7(CACNA1C):c.1794C>T (p.Gly598=) rs116491041 0.00200
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436 0.00200
NM_203486.3(DLL3):c.390G>A (p.Glu130=) rs113780398 0.00200
NM_001308093.3(GATA4):c.99G>T (p.Ala33=) rs56166237 0.00199
NM_006329.4(FBLN5):c.376G>A (p.Val126Met) rs61734479 0.00199
NM_012073.5(CCT5):c.331+14A>T rs201171003 0.00199
NM_133379.5(TTN):c.10917C>T (p.Gly3639=) rs140804168 0.00199
NM_000016.6(ACADM):c.468+71T>C rs571856182 0.00198
NM_000258.3(MYL3):c.130-14G>T rs192329378 0.00198
NM_001009944.3(PKD1):c.10406-4C>T rs151095649 0.00198
NM_001358263.1(HK1):c.75+20082A>G rs187500777 0.00198
NM_001844.5(COL2A1):c.2046C>T (p.Asp682=) rs41263851 0.00198
NM_002529.4(NTRK1):c.1908G>A (p.Ala636=) rs17838192 0.00198
NM_003098.3(SNTA1):c.221C>T (p.Pro74Leu) rs572545726 0.00198
NM_004006.3(DMD):c.10087-20C>T rs41303187 0.00198
NM_133379.5(TTN):c.10648C>T (p.Arg3550Trp) rs141407971 0.00198
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_000053.4(ATP7B):c.3060+16G>T rs76163470 0.00196
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=) rs45522138 0.00196
NM_001377229.1(DISP1):c.414G>A (p.Thr138=) rs143316612 0.00196
NM_002454.3(MTRR):c.1982A>G (p.His661Arg) rs148909799 0.00196
NM_000059.4(BRCA2):c.6937+565T>C rs11571675 0.00195
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414 0.00195
NM_001267550.2(TTN):c.34307A>G (p.Lys11436Arg) rs568554504 0.00195
NM_001614.5(ACTG1):c.684C>T (p.Ala228=) rs143125497 0.00195
NM_005327.7(HADH):c.456G>T (p.Gln152His) rs1051519 0.00195
NM_005529.7(HSPG2):c.4627-3del rs368983547 0.00195
NM_005529.7(HSPG2):c.9327C>T (p.His3109=) rs61743674 0.00195
NM_053025.4(MYLK):c.4620-6C>T rs113607507 0.00195
NM_153717.3(EVC):c.8G>C (p.Arg3Pro) rs756852655 0.00195
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=) rs61729497 0.00194
NM_001142864.4(PIEZO1):c.985C>G (p.Leu329Val) rs114507258 0.00194
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile) rs144930507 0.00194
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608 0.00194
NM_007272.3(CTRC):c.640-12G>A rs183053579 0.00194
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=) rs75091137 0.00194
NM_144687.4(NLRP12):c.1299A>G (p.Ala433=) rs73608455 0.00194
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 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_001042492.3(NF1):c.888+647C>G rs185500742 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_001943.5(DSG2):c.6G>A (p.Ala2=) rs368809971 0.00193
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_014000.3(VCL):c.1353-19G>A rs145537824 0.00193
NM_020297.4(ABCC9):c.1677G>A (p.Ala559=) rs76458291 0.00193
NM_000018.4(ACADVL):c.1828-4C>G rs184559206 0.00192
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850 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_001267550.2(TTN):c.34769A>G (p.Glu11590Gly) rs201167067 0.00192
NM_004329.3(BMPR1A):c.777G>A (p.Ala259=) rs56108371 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_000350.3(ABCA4):c.5196+1159G>A rs80110715 0.00191
NM_005340.7(HINT1):c.330C>T (p.His110=) rs139624223 0.00191
NM_015627.3(LDLRAP1):c.672C>T (p.Ser224=) rs41291054 0.00191
NM_031427.4(DNAL1):c.415C>G (p.Leu139Val) rs141873943 0.00191
NM_144687.4(NLRP12):c.819T>C (p.Pro273=) rs59749540 0.00191
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser) rs148939995 0.00191
NM_000363.5(TNNI3):c.550-10C>T rs201240150 0.00190
NM_000551.4(VHL):c.340+5G>C rs61758376 0.00190
NM_001605.3(AARS1):c.2521-3C>T rs200586605 0.00190
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378 0.00190
NM_015512.5(DNAH1):c.5669G>T (p.Gly1890Val) rs200859252 0.00190
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_024753.5(TTC21B):c.1676T>G (p.Val559Gly) rs149325238 0.00190
NM_133379.5(TTN):c.14754T>G (p.Pro4918=) rs72648908 0.00190
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255 0.00190
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060 0.00189
NM_000814.6(GABRB3):c.682+20A>G rs75015217 0.00189
NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser) rs62001015 0.00189
NM_001360.3(DHCR7):c.321+10C>T rs377108406 0.00189
NM_001927.4(DES):c.324G>A (p.Glu108=) rs138677215 0.00189
NM_002471.4(MYH6):c.4320T>A (p.Ala1440=) rs145566711 0.00189
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala) rs113498662 0.00189
NM_000071.3(CBS):c.954+8G>A rs76292057 0.00188
NM_000249.4(MLH1):c.790+10A>G rs182733777 0.00188
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser) rs191692293 0.00188
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) rs142317580 0.00188
NM_002335.4(LRP5):c.1801+675A>G rs555106014 0.00188
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_002691.4(POLD1):c.378C>T (p.Arg126=) rs145324823 0.00188
NM_005188.4(CBL):c.1359A>C (p.Pro453=) rs34732429 0.00188
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln) rs140621959 0.00188
NM_024426.6(WT1):c.123G>C (p.Pro41=) rs555140661 0.00188
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_000188.3(HK1):c.1571-18C>T rs75829368 0.00187
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052 0.00187
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile) rs199859344 0.00187
NM_002103.5(GYS1):c.300+8G>A rs5454 0.00187
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val) rs35193202 0.00187
NM_005957.5(MTHFR):c.1959G>A (p.Thr653=) rs45572531 0.00187
NM_194454.3(KRIT1):c.1140G>A (p.Thr380=) rs140009885 0.00187
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_000141.5(FGFR2):c.1673-12C>T rs41293763 0.00186
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157 0.00186
NM_080680.3(COL11A2):c.4392+12C>T rs117267045 0.00186
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863 0.00185
NM_000350.3(ABCA4):c.3626T>C (p.Met1209Thr) rs76258939 0.00185
NM_001109809.5(ZFP57):c.491G>A (p.Arg164Gln) rs200541066 0.00185
NM_001142864.4(PIEZO1):c.5883T>C (p.Tyr1961=) rs115213894 0.00185
NM_001235.5(SERPINH1):c.722-13G>A rs116506210 0.00185
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458 0.00185
NM_005188.4(CBL):c.870-19del rs548130600 0.00185
NM_005529.7(HSPG2):c.355-14G>C rs372356869 0.00185
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys) rs147587689 0.00185
NM_000091.5(COL4A3):c.3566-9T>C rs147886850 0.00184
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451 0.00184
NM_001457.4(FLNB):c.6231C>T (p.Asp2077=) rs145280904 0.00184
NM_019844.4(SLCO1B3):c.434A>G (p.Asn145Ser) rs146623116 0.00184
NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser) rs116035946 0.00184
NM_000208.4(INSR):c.1080C>T (p.Cys360=) rs56066516 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_006005.3(WFS1):c.1530C>T (p.Tyr510=) rs35789242 0.00183
NM_006767.4(LZTR1):c.741C>T (p.Ser247=) rs114458679 0.00183
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=) rs80356851 0.00183
NM_000019.4(ACAT1):c.238+17C>T rs199918672 0.00182
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000093.5(COL5A1):c.4230+5C>T rs142248898 0.00182
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_000558.5(HBA1):c.95+38C>T rs556086584 0.00182
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_001130823.3(DNMT1):c.150C>T (p.His50=) rs146112081 0.00182
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539 0.00182
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn) rs184740744 0.00181
NM_001370259.2(MEN1):c.597C>T (p.His199=) rs150512958 0.00181
NM_002180.3(IGHMBP2):c.304G>T (p.Ala102Ser) rs35610053 0.00181
NM_003126.4(SPTA1):c.1181A>G (p.Asn394Ser) rs111834376 0.00181
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919 0.00180
NM_004168.4(SDHA):c.1911C>T (p.Val637=) rs11557098 0.00180
NM_144687.4(NLRP12):c.2227A>C (p.Lys743Gln) rs74373537 0.00180
NM_177438.3(DICER1):c.1825G>T (p.Asp609Tyr) rs114947750 0.00180
NM_000088.4(COL1A1):c.3531+10C>A rs41316721 0.00179
NM_001999.4(FBN2):c.5353+19C>T rs183524866 0.00179
NM_003000.3(SDHB):c.423+20T>A rs190139590 0.00179
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr) rs145007501 0.00179
NM_024753.5(TTC21B):c.262+16G>A rs192525886 0.00179
NM_033118.4(MYLK2):c.1295+4C>A rs113936360 0.00179
NM_000152.5(GAA):c.2332-12A>T rs200965268 0.00178
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700 0.00178
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304 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_001105206.3(LAMA4):c.2493+15G>T rs77901141 0.00178
NM_001458.5(FLNC):c.561C>T (p.Asp187=) rs149474376 0.00178
NM_001879.6(MASP1):c.1442-5C>G rs138989954 0.00178
NM_003036.4(SKI):c.1211+19C>T rs182600375 0.00178
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814 0.00178
NM_006371.5(CRTAP):c.732C>T (p.Leu244=) rs149119710 0.00178
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00178
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=) rs2234473 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_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_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981 0.00177
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_001267550.2(TTN):c.29963-13A>G rs72650008 0.00177
NM_001374353.1(GLI2):c.1935G>A (p.Ser645=) rs114259687 0.00177
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309 0.00177
NM_000038.6(APC):c.-19+512G>A rs550306841 0.00176
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_000222.3(KIT):c.2805T>A (p.Ile935=) rs72549296 0.00176
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896 0.00176
NM_001355436.2(SPTB):c.5463C>T (p.Pro1821=) rs114513294 0.00176
NM_001375808.2(LPIN2):c.-10+1381T>C rs566304730 0.00176
NM_002691.4(POLD1):c.773C>T (p.Thr258Met) rs76131127 0.00176
NM_004086.3(COCH):c.841G>A (p.Asp281Asn) rs28362775 0.00176
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=) rs34025424 0.00176
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_000719.7(CACNA1C):c.1669+10G>A rs576194052 0.00175
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720 0.00175
NM_004281.4(BAG3):c.25A>G (p.Met9Val) rs137965903 0.00175
NM_004999.4(MYO6):c.2635G>A (p.Asp879Asn) rs60970824 0.00175
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=) rs3812602 0.00175
NM_033118.4(MYLK2):c.508G>A (p.Glu170Lys) rs145656924 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_053013.4(ENO3):c.86-10C>T rs201571802 0.00174
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe) rs2920791 0.00174
NM_177438.3(DICER1):c.3972G>A (p.Lys1324=) rs45562437 0.00174
NM_020975.6(RET):c.468C>T (p.Ala156=) rs141290380 0.00173
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=) rs61754141 0.00173
NM_000188.3(HK1):c.2583C>T (p.Asp861=) rs145610109 0.00172
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr) rs189966800 0.00172
NM_002471.4(MYH6):c.2928+5G>A rs28730772 0.00172
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met) rs56136489 0.00172
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_001142864.4(PIEZO1):c.3969-12G>A rs200317312 0.00171
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294 0.00171
NM_002296.4(LBR):c.866G>A (p.Gly289Glu) rs148541545 0.00171
NM_002439.5(MSH3):c.1897-12T>A rs56244266 0.00171
NM_002878.4(RAD51D):c.481-7G>A rs145832514 0.00171
NM_033305.3(VPS13A):c.3078T>G (p.Thr1026=) rs141835897 0.00171
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00171
NM_000037.4(ANK1):c.2830G>A (p.Ala944Thr) rs35797405 0.00170
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_001457.4(FLNB):c.6684C>T (p.Ile2228=) rs138416613 0.00170
NM_001540.5(HSPB1):c.573T>C (p.Leu191=) rs34771861 0.00170
NM_002296.4(LBR):c.837+19T>A rs77316576 0.00170
NM_006182.4(DDR2):c.1099+12A>C rs144350332 0.00170
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 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_001167623.2(CACNA1C):c.3883A>G (p.Ile1295Val) rs114851656 0.00169
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=) rs56077602 0.00169
NM_003126.4(SPTA1):c.748C>T (p.Arg250Cys) rs143459302 0.00169
NM_004655.4(AXIN2):c.1713-18G>A rs147664289 0.00169
NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro) rs116750638 0.00169
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=) rs116541276 0.00169
NM_022041.4(GAN):c.1445C>T (p.Ala482Val) rs146576740 0.00169
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu) rs148376885 0.00169
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723 0.00168
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_001927.4(DES):c.792C>T (p.Asp264=) rs150370918 0.00168
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter) rs71352737 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_001370658.1(BTD):c.202C>G (p.Gln68Glu) rs151071780 0.00167
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr) rs80116829 0.00167
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=) rs116076060 0.00167
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380 0.00167
NM_000051.4(ATM):c.609C>T (p.Asp203=) rs144709948 0.00166
NM_000384.3(APOB):c.9105T>C (p.Asn3035=) rs147510760 0.00166
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_003978.5(PSTPIP1):c.657A>C (p.Gln219His) rs139362350 0.00166
NM_004304.5(ALK):c.3594C>T (p.Leu1198=) rs56071005 0.00166
NM_005188.4(CBL):c.2484G>A (p.Pro828=) rs149533467 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=) rs148727945 0.00165
NM_002473.6(MYH9):c.4952T>C (p.Met1651Thr) rs142094977 0.00165
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012 0.00165
NM_017636.4(TRPM4):c.2209G>A (p.Gly737Arg) rs145847114 0.00165
NM_025132.4(WDR19):c.2361C>T (p.Phe787=) rs200133722 0.00165
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg) rs117358479 0.00165
NM_002529.4(NTRK1):c.1354+18A>T rs73004759 0.00164
NM_002661.5(PLCG2):c.987G>A (p.Thr329=) rs200506549 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_000138.5(FBN1):c.2420-8T>C rs140582 0.00163
NM_000168.6(GLI3):c.1243-40A>C rs77659679 0.00163
NM_000298.6(PKLR):c.814C>G (p.Leu272Val) rs147659527 0.00163
NM_000384.3(APOB):c.3279C>G (p.Thr1093=) rs72653075 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_031475.3(ESPN):c.1248G>A (p.Pro416=) rs139332523 0.00163
NM_080680.3(COL11A2):c.390G>C (p.Arg130=) rs149638770 0.00163
NM_080911.3(UNG):c.533+6G>A rs55812333 0.00163
NM_000071.3(CBS):c.1059G>A (p.Thr353=) rs61735859 0.00162
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600 0.00162
NM_004006.3(DMD):c.1483-7C>G rs112463388 0.00162
NM_000038.6(APC):c.120G>A (p.Glu40=) rs142720069 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_001854.4(COL11A1):c.3729G>A (p.Gly1243=) rs148395062 0.00161
NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn) rs112884419 0.00161
NM_021625.5(TRPV4):c.57C>T (p.Pro19=) rs112408790 0.00161
NM_023036.6(DNAI2):c.1660G>A (p.Asp554Asn) rs117932646 0.00161
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His) rs76726265 0.00161
NM_144687.4(NLRP12):c.1063G>A (p.Glu355Lys) rs143855597 0.00161
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys) rs146041189 0.00160
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val) rs184018403 0.00160
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_004972.4(JAK2):c.3178-12_3178-11insC rs533264615 0.00160
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln) rs149772470 0.00160
NM_006005.3(WFS1):c.1277G>A (p.Cys426Tyr) rs35218685 0.00160
NM_018979.4(WNK1):c.1074C>T (p.Thr358=) rs72648621 0.00160
NM_022114.4(PRDM16):c.2452G>A (p.Gly818Ser) rs201904226 0.00160
NM_000179.3(MSH6):c.3801+17T>C rs3136365 0.00159
NM_000251.3(MSH2):c.1277-8T>C rs145400590 0.00159
NM_001358921.2(COQ2):c.1028T>C (p.Val343Ala) rs148156462 0.00159
NM_001375808.2(LPIN2):c.1410C>T (p.Thr470=) rs35932462 0.00159
NM_002691.4(POLD1):c.80A>T (p.Asp27Val) rs150066950 0.00159
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_003126.4(SPTA1):c.5118C>T (p.His1706=) rs200945419 0.00159
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636 0.00159
NM_153676.4(USH1C):c.2491-16C>T rs200919289 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_000314.8(PTEN):c.1104T>C (p.Asp368=) rs35979531 0.00158
NM_000321.3(RB1):c.380+10C>G rs187110786 0.00158
NM_000435.3(NOTCH3):c.3314G>C (p.Gly1105Ala) rs143764521 0.00158
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106 0.00158
NM_001145809.2(MYH14):c.4685G>A (p.Arg1562Gln) rs140118363 0.00158
NM_001164688.2(RD3):c.494A>C (p.Asp165Ala) rs149051185 0.00158
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639 0.00158
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082 0.00158
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254 0.00158
NM_001370466.1(NOD2):c.2325G>T (p.Val775=) rs104895495 0.00157
NM_003000.3(SDHB):c.300T>C (p.Ser100=) rs11541235 0.00157
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr) rs142054672 0.00157
NM_018979.4(WNK1):c.6150T>C (p.Leu2050=) rs151331381 0.00157
NM_033337.3(CAV3):c.336C>T (p.Ile112=) rs139985460 0.00157
NM_000238.4(KCNH2):c.1129-18C>T rs78794789 0.00156
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_001035.3(RYR2):c.14756+12C>T rs2275693 0.00156
NM_001110556.2(FLNA):c.1429+8C>T rs202181557 0.00156
NM_001142864.4(PIEZO1):c.4363G>A (p.Ala1455Thr) rs191656121 0.00156
NM_001142864.4(PIEZO1):c.5728G>A (p.Glu1910Lys) rs200929552 0.00156
NM_001142864.4(PIEZO1):c.64+17C>T rs577170711 0.00156
NM_002335.4(LRP5):c.2295G>A (p.Ser765=) rs140955013 0.00156
NM_002473.6(MYH9):c.5818G>A (p.Gly1940Arg) rs140588099 0.00156
NM_002838.5(PTPRC):c.3670G>A (p.Val1224Ile) rs150672767 0.00156
NM_005633.4(SOS1):c.2988G>A (p.Pro996=) rs35462677 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_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_000540.3(RYR1):c.2622G>A (p.Ala874=) rs149381996 0.00155
NM_000552.5(VWF):c.1728G>T (p.Met576Ile) rs150146744 0.00155
NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val) rs141640975 0.00155
NM_001114134.2(EPB42):c.430+12C>T rs185794093 0.00155
NM_002335.4(LRP5):c.4623G>A (p.Thr1541=) rs139974816 0.00155
NM_002474.3(MYH11):c.2961C>T (p.Ile987=) rs137988790 0.00155
NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr) rs1805378 0.00155
NM_003480.4(MFAP5):c.410-18G>A rs151240610 0.00155
NM_004004.6(GJB2):c.*3C>A rs111033460 0.00155
NM_004444.5(EPHB4):c.1593C>T (p.Ser531=) rs55682161 0.00155
NM_021629.4(GNB4):c.186T>C (p.His62=) rs149798652 0.00155
NM_000463.3(UGT1A1):c.141C>T (p.Ile47=) rs34526305 0.00154
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met) rs3219496 0.00154
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_003200.5(TCF3):c.750G>A (p.Pro250=) rs201703361 0.00154
NM_005422.4(TECTA):c.5160C>T (p.Asp1720=) rs142657158 0.00154
NM_000302.4(PLOD1):c.77-3358C>T rs534978828 0.00153
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_001035.3(RYR2):c.4596+12G>A rs148557427 0.00153
NM_001130823.3(DNMT1):c.2117+13G>A rs112660071 0.00153
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438 0.00153
NM_001498.4(GCLC):c.1039G>A (p.Asp347Asn) rs80120302 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_003072.5(SMARCA4):c.258C>T (p.Asp86=) rs115992445 0.00153
NM_004329.3(BMPR1A):c.1299C>T (p.Phe433=) rs150946485 0.00153
NM_014874.4(MFN2):c.1179G>A (p.Met393Ile) rs12069578 0.00153
NM_016239.4(MYO15A):c.1111C>A (p.Pro371Thr) rs200382813 0.00153
NM_023110.3(FGFR1):c.336C>T (p.Thr112=) rs148480919 0.00153
NM_024577.4(SH3TC2):c.1177+10G>A rs139257109 0.00153
NM_032043.3(BRIP1):c.2061G>C (p.Val687=) rs112414873 0.00153
NM_053025.4(MYLK):c.4620-18G>A rs41305835 0.00153
NM_000141.5(FGFR2):c.454+14C>T rs112142377 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_005591.4(MRE11):c.822T>C (p.Leu274=) rs137868143 0.00152
NM_006790.3(MYOT):c.445G>C (p.Glu149Gln) rs71578935 0.00152
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_001159773.2(CANT1):c.56G>A (p.Arg19Gln) rs144060377 0.00151
NM_001199397.3(NEK1):c.924T>G (p.Ile308Met) rs10034957 0.00151
NM_001291303.3(FAT4):c.5921-14C>T rs190218898 0.00151
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg) rs140830294 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_000037.4(ANK1):c.2495G>A (p.Arg832Gln) rs34523608 0.00150
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966 0.00150
NM_000188.3(HK1):c.375+19C>T rs202035445 0.00150
NM_000637.5(GSR):c.866T>C (p.Val289Ala) rs151187899 0.00150
NM_001009944.3(PKD1):c.10325C>T (p.Ala3442Val) rs144593342 0.00150
NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val) rs148337824 0.00150
NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=) rs147066476 0.00150
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688 0.00150
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00150
NM_006446.5(SLCO1B1):c.1332-14T>C rs71581991 0.00150
NM_006446.5(SLCO1B1):c.1738C>T (p.Arg580Ter) rs71581941 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_016203.4(PRKAG2):c.1704G>A (p.Thr568=) rs138167675 0.00150
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) rs140679502 0.00150
NM_025132.4(WDR19):c.3667C>T (p.Arg1223Cys) rs201597047 0.00150
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg) rs35926225 0.00150
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00149
NM_000536.4(RAG2):c.1504A>G (p.Met502Val) rs145614809 0.00149
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=) rs2229919 0.00149
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00149
NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=) rs121918239 0.00149
NM_001355436.2(SPTB):c.6346-13dup rs555587693 0.00149
NM_001457.4(FLNB):c.6773-13C>A rs200653965 0.00149
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386 0.00149
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg) rs143796569 0.00149
NM_147127.5(EVC2):c.2394G>A (p.Arg798=) rs147173201 0.00149
NM_147127.5(EVC2):c.2395G>C (p.Asp799His) rs143491078 0.00149
NM_000112.4(SLC26A2):c.*600G>T rs143723255 0.00148
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847 0.00148
NM_000355.4(TCN2):c.138C>T (p.Ser46=) rs143250551 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_001308093.3(GATA4):c.735C>T (p.Tyr245=) rs146696080 0.00148
NM_002471.4(MYH6):c.2890G>T (p.Ala964Ser) rs144907522 0.00148
NM_005751.5(AKAP9):c.10197T>C (p.Thr3399=) rs143627839 0.00148
NM_021625.5(TRPV4):c.1585-18C>T rs201974634 0.00148
NM_000152.5(GAA):c.692+17G>C rs199559553 0.00147
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_000363.5(TNNI3):c.109-17C>A rs139150276 0.00147
NM_000883.4(IMPDH1):c.1489C>T (p.Arg497Trp) rs72624967 0.00147
NM_001093.4(ACACB):c.2872G>A (p.Val958Met) rs139511102 0.00147
NM_001142864.4(PIEZO1):c.2409G>C (p.Gln803His) rs200029740 0.00147
NM_001355436.2(SPTB):c.5750C>T (p.Ser1917Phe) rs149678681 0.00147
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=) rs4986844 0.00147
NM_015404.4(WHRN):c.1048C>T (p.Arg350Trp) rs142990800 0.00147
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp) rs61734354 0.00146
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_000090.4(COL3A1):c.2056C>G (p.Pro686Ala) rs41263775 0.00146
NM_000552.5(VWF):c.3789G>A (p.Ser1263=) rs199831474 0.00146
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=) rs189768015 0.00146
NM_002471.4(MYH6):c.3979-15C>A rs529249069 0.00146
NM_003126.4(SPTA1):c.5256G>A (p.Leu1752=) rs141683960 0.00146
NM_004006.3(DMD):c.2971G>C (p.Glu991Gln) rs72468667 0.00146
NM_000398.7(CYB5R3):c.890G>A (p.Arg297His) rs76458556 0.00145
NM_000435.3(NOTCH3):c.6237G>A (p.Gly2079=) rs376598183 0.00145
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe) rs151073129 0.00145
NM_000518.5(HBB):c.432C>T (p.His144=) rs36020563 0.00145
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr) rs200037070 0.00145
NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val) rs145639192 0.00145
NM_002471.4(MYH6):c.3927T>C (p.Ser1309=) rs115742584 0.00145
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_003924.4(PHOX2B):c.288C>G (p.Arg96=) rs201892150 0.00145
NM_004360.5(CDH1):c.2440-6C>G rs139757930 0.00145
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649 0.00145
NM_013296.5(GPSM2):c.1739C>T (p.Ser580Leu) rs79730689 0.00145
NM_020433.5(JPH2):c.637C>T (p.Arg213Trp) rs767328866 0.00145
NM_020433.5(JPH2):c.642G>A (p.Ala214=) rs587780956 0.00145
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met) rs144701688 0.00145
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met) rs146954342 0.00145
NM_000335.5(SCN5A):c.3919C>T (p.Leu1307Phe) rs41313031 0.00144
NM_001142864.4(PIEZO1):c.1465C>G (p.Arg489Gly) rs59550107 0.00144
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615 0.00144
NM_002386.4(MC1R):c.67C>T (p.Gln23Ter) rs201533137 0.00144
NM_004281.4(BAG3):c.1587C>T (p.Ala529=) rs149358702 0.00144
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00144
NM_022114.4(PRDM16):c.3102C>T (p.Asn1034=) rs199853370 0.00144
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993 0.00143
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_000316.3(PTH1R):c.1353+17C>T rs202140438 0.00143
NM_000642.3(AGL):c.1875G>T (p.Thr625=) rs141944878 0.00143
NM_001035.3(RYR2):c.9067+12C>T rs112365440 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_004086.3(COCH):c.1204A>G (p.Ile402Val) rs28362778 0.00143
NM_004360.5(CDH1):c.1272C>T (p.Val424=) rs61756284 0.00143
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00143
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr) rs117502839 0.00143
NM_000142.5(FGFR3):c.678C>T (p.Tyr226=) rs141575580 0.00142
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593 0.00142
NM_001032283.3(TMPO):c.565+1696C>T rs141443652 0.00142
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805 0.00142
NM_001853.4(COL9A3):c.237G>A (p.Pro79=) rs141960487 0.00142
NM_002691.4(POLD1):c.2967G>A (p.Thr989=) rs3218752 0.00142
NM_000059.4(BRCA2):c.9634G>C (p.Gly3212Arg) rs55775473 0.00141
NM_000363.5(TNNI3):c.373-15C>G rs192630178 0.00141
NM_000478.6(ALPL):c.859T>C (p.Leu287=) rs141742288 0.00141
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) rs200195310 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_001355436.2(SPTB):c.3679C>T (p.Pro1227Ser) rs149186357 0.00141
NM_003114.5(SPAG1):c.825C>T (p.Asn275=) rs150007121 0.00141
NM_004281.4(BAG3):c.549C>G (p.Ser183=) rs112929734 0.00141
NM_015046.7(SETX):c.7101A>G (p.Gly2367=) rs79233884 0.00141
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg) rs572671060 0.00141
NM_000335.5(SCN5A):c.3246C>T (p.Ser1082=) rs111422496 0.00140
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042 0.00140
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642 0.00140
NM_001355436.2(SPTB):c.2881G>A (p.Val961Ile) rs149316006 0.00140
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val) rs200466720 0.00140
NM_001457.4(FLNB):c.4929C>T (p.Ala1643=) rs149070858 0.00140
NM_006129.5(BMP1):c.1443+12G>C rs181328614 0.00140
NM_020297.4(ABCC9):c.924T>C (p.Asp308=) rs139127928 0.00140
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462 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_001009944.3(PKD1):c.11538-11C>T rs377692278 0.00139
NM_001243133.2(NLRP3):c.1119G>A (p.Glu373=) rs138613962 0.00139
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp) rs148720124 0.00139
NM_004415.4(DSP):c.6678T>A (p.Gly2226=) rs149070106 0.00139
NM_016169.4(SUFU):c.910+14C>T rs202247757 0.00139
NM_016239.4(MYO15A):c.8269G>A (p.Val2757Met) rs140140417 0.00139
NM_000037.4(ANK1):c.5395-1162C>A rs145094714 0.00138
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687 0.00138
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_000492.4(CFTR):c.4243-5C>T rs114402068 0.00138
NM_000548.5(TSC2):c.5260-15C>T rs45517416 0.00138
NM_001110556.2(FLNA):c.942A>G (p.Gly314=) rs200763980 0.00138
NM_001142864.4(PIEZO1):c.3813C>T (p.Asp1271=) rs116683709 0.00138
NM_001148.6(ANK2):c.7902G>A (p.Val2634=) rs150878494 0.00138
NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys) rs141226650 0.00138
NM_001355436.2(SPTB):c.6045G>A (p.Ser2015=) rs149362111 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_005422.4(TECTA):c.3492C>T (p.Thr1164=) rs144012985 0.00138
NM_017668.3(NDE1):c.948-2772T>C rs143288748 0.00138
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00137
NM_000257.4(MYH7):c.2358G>A (p.Thr786=) rs36211714 0.00137
NM_001142864.4(PIEZO1):c.5963C>T (p.Ala1988Val) rs556192193 0.00137
NM_001145809.2(MYH14):c.5573G>A (p.Arg1858His) rs11882073 0.00137
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln) rs142874389 0.00137
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln) rs104895464 0.00137
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211 0.00137
NM_001999.4(FBN2):c.2555-7A>G rs28763949 0.00137
NM_005188.4(CBL):c.2190G>C (p.Thr730=) rs143840974 0.00137
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu) rs142401936 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_022114.4(PRDM16):c.3687T>C (p.Ala1229=) rs188634763 0.00137
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000316.3(PTH1R):c.988+16G>A rs140651831 0.00136
NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=) rs199802825 0.00136
NM_001142864.4(PIEZO1):c.3793G>A (p.Asp1265Asn) rs570106950 0.00136
NM_002439.5(MSH3):c.792+8G>A rs147777411 0.00136
NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln) rs200938874 0.00136
NM_005751.5(AKAP9):c.6921A>G (p.Gln2307=) rs141156177 0.00136
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500 0.00136
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945 0.00135
NM_000355.4(TCN2):c.296A>C (p.Lys99Thr) rs150225103 0.00135
NM_001009944.3(PKD1):c.11017-3C>T rs185355445 0.00135
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) rs201168500 0.00135
NM_001953.5(TYMP):c.242G>A (p.Arg81Gln) rs143789597 0.00135
NM_002691.4(POLD1):c.2007-4G>A rs202035484 0.00135
NM_004999.4(MYO6):c.2517T>C (p.Gly839=) rs112597191 0.00135
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys) rs141280063 0.00135
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130 0.00135
NM_022041.4(GAN):c.1612+12A>G rs150344737 0.00135
NM_181882.3(PRX):c.3838G>C (p.Glu1280Gln) rs146205352 0.00135
NM_203486.3(DLL3):c.352-15C>T rs201902809 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_000179.3(MSH6):c.3647-6T>A rs182871847 0.00134
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889 0.00134
NM_000355.4(TCN2):c.428-4T>C rs201408393 0.00134
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300 0.00134
NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val) rs146767076 0.00134
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr) rs72647885 0.00134
NM_001999.4(FBN2):c.8364+7A>T rs185052980 0.00134
NM_002473.6(MYH9):c.5323A>G (p.Lys1775Glu) rs145139708 0.00134
NM_003126.4(SPTA1):c.1982G>A (p.Arg661His) rs201845149 0.00134
NM_004999.4(MYO6):c.1144G>A (p.Asp382Asn) rs111530469 0.00134
NM_017433.5(MYO3A):c.4462A>G (p.Lys1488Glu) rs34204285 0.00134
NM_194248.3(OTOF):c.367G>A (p.Gly123Ser) rs116314622 0.00134
NM_000243.3(MEFV):c.986G>A (p.Arg329His) rs104895112 0.00133
NM_001005373.4(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127 0.00133
NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln) rs200431386 0.00133
NM_001355436.2(SPTB):c.1512C>T (p.Asp504=) rs150968094 0.00133
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) rs141553918 0.00133
NM_014920.5(CILK1):c.666T>C (p.Thr222=) rs139739780 0.00133
NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala) rs141649676 0.00133
NM_032119.4(ADGRV1):c.3303A>G (p.Val1101=) rs80069610 0.00133
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_001267550.2(TTN):c.58869A>G (p.Lys19623=) rs191066933 0.00132
NM_001355436.2(SPTB):c.5915G>A (p.Arg1972Gln) rs140141633 0.00132
NM_004415.4(DSP):c.3696C>A (p.Ser1232=) rs141120358 0.00132
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399 0.00132
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230 0.00131
NM_001364905.1(LRBA):c.4591T>G (p.Phe1531Val) rs114610541 0.00131
NM_001370298.3(FGD4):c.2560G>A (p.Val854Met) rs61753359 0.00131
NM_001370466.1(NOD2):c.1970G>A (p.Arg657Gln) rs114664276 0.00131
NM_001457.4(FLNB):c.7360G>A (p.Val2454Ile) rs146499414 0.00131
NM_002769.5(PRSS1):c.592-11C>T rs183791770 0.00131
NM_002769.5(PRSS1):c.592-8C>T rs200381474 0.00131
NM_002878.4(RAD51D):c.666A>G (p.Glu222=) rs114012742 0.00131
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_005529.7(HSPG2):c.204C>A (p.Asp68Glu) rs1869780 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_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 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_000047.3(ARSL):c.1694T>G (p.Ile565Ser) rs142375403 0.00129
NM_001142864.4(PIEZO1):c.666C>T (p.Val222=) rs541555439 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_001355436.2(SPTB):c.2562C>T (p.Phe854=) rs12433436 0.00129
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=) rs370627443 0.00129
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 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_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00129
NM_000371.4(TTR):c.360C>T (p.Ser120=) rs150127220 0.00128
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn) rs201093148 0.00128
NM_001267550.2(TTN):c.36285C>T (p.His12095=) rs201184203 0.00128
NM_001322934.2(NFKB2):c.2145G>A (p.Ser715=) rs200006038 0.00128
NM_001844.5(COL2A1):c.85+10C>G rs769941617 0.00128
NM_001943.5(DSG2):c.1875G>C (p.Leu625=) rs35743180 0.00128
NM_002626.6(PFKL):c.2209C>T (p.Arg737Trp) rs118106526 0.00128
NM_003072.5(SMARCA4):c.1419+9C>T rs374635008 0.00128
NM_004655.4(AXIN2):c.1807G>C (p.Ala603Pro) rs145353986 0.00128
NM_004655.4(AXIN2):c.1952C>T (p.Ser651Leu) rs74006838 0.00128
NM_014845.6(FIG4):c.446+9G>A rs190287033 0.00128
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) rs117587497 0.00128
NM_031443.4(CCM2):c.980A>G (p.Asn327Ser) rs150428392 0.00128
NM_177438.3(DICER1):c.4891T>G (p.Ser1631Ala) rs145551486 0.00128
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_000492.4(CFTR):c.4242+10T>C rs138642693 0.00127
NM_001009944.3(PKD1):c.11717G>T (p.Cys3906Phe) rs369291413 0.00127
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=) rs79392371 0.00127
NM_001370466.1(NOD2):c.2296G>A (p.Val766Met) rs104895444 0.00127
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212 0.00126
NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=) rs139698110 0.00126
NM_001029883.3(PCARE):c.530C>T (p.Pro177Leu) rs190791051 0.00126
NM_001040716.2(PC):c.616G>T (p.Val206Leu) rs147945506 0.00126
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00126
NM_001783.4(CD79A):c.419C>A (p.Thr140Asn) rs148797987 0.00126
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590 0.00126
NM_004415.4(DSP):c.2346C>T (p.Asp782=) rs139071827 0.00126
NM_144687.4(NLRP12):c.1731G>A (p.Lys577=) rs73608454 0.00126
NM_000346.4(SOX9):c.858C>A (p.Ile286=) rs149355998 0.00125
NM_000642.3(AGL):c.1810T>G (p.Phe604Val) rs138105395 0.00125
NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=) rs199569478 0.00125
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204 0.00125
NM_001267550.2(TTN):c.426C>T (p.Ala142=) rs56137037 0.00125
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165 0.00125
NM_003126.4(SPTA1):c.6132G>C (p.Leu2044=) rs186987240 0.00125
NM_006231.4(POLE):c.6675C>T (p.Arg2225=) rs149973644 0.00125
NM_007078.3(LDB3):c.689+10G>A rs45563234 0.00125
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala) rs150149784 0.00124
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp) rs139468527 0.00124
NM_001042492.3(NF1):c.1846-12A>T rs188510882 0.00124
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=) rs772339340 0.00124
NM_001148.6(ANK2):c.7059A>G (p.Gln2353=) rs145782226 0.00124
NM_001243177.4(ALDOA):c.648C>G (p.Leu216=) rs112110009 0.00124
NM_001267550.2(TTN):c.1398+16C>T rs144043280 0.00124
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser) rs147580753 0.00124
NM_004006.3(DMD):c.1888A>G (p.Thr630Ala) rs72468692 0.00124
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe) rs200542052 0.00124
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln) rs528000488 0.00124
NM_024996.7(GFM1):c.690-5C>G rs201685981 0.00124
NM_000091.5(COL4A3):c.2886C>T (p.Phe962=) rs77846212 0.00123
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_000642.3(AGL):c.968G>A (p.Arg323Gln) rs139399527 0.00123
NM_001005361.3(DNM2):c.238C>T (p.His80Tyr) rs148790687 0.00123
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751 0.00123
NM_001130823.3(DNMT1):c.768+12T>A rs189898346 0.00123
NM_001130823.3(DNMT1):c.768+18C>A rs200380915 0.00123
NM_001267550.2(TTN):c.34453+12C>A rs74930148 0.00123
NM_001376.5(DYNC1H1):c.9264-8T>G rs368432468 0.00123
NM_001386795.1(DTNA):c.604-14G>T rs397517447 0.00123
NM_002878.4(RAD51D):c.263+1588A>G rs180869630 0.00123
NM_003239.5(TGFB3):c.744C>A (p.Ile248=) rs45477900 0.00123
NM_003680.4(YARS1):c.1374G>A (p.Pro458=) rs151227410 0.00123
NM_004208.4(AIFM1):c.948C>A (p.Ala316=) rs148184613 0.00123
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) rs71539668 0.00123
NM_022124.6(CDH23):c.2781C>T (p.Tyr927=) rs375102725 0.00123
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
NM_000037.4(ANK1):c.3532+13C>A rs181905023 0.00122
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688 0.00122
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile) rs140769712 0.00122
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399 0.00122
NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln) rs142939330 0.00122
NM_005529.7(HSPG2):c.11169C>T (p.Phe3723=) rs139033413 0.00122
NM_006767.4(LZTR1):c.666C>T (p.Gly222=) rs35767542 0.00122
NM_001127217.3(SMAD9):c.65T>C (p.Leu22Pro) rs111748421 0.00121
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520 0.00121
NM_001291303.3(FAT4):c.8021A>T (p.Asp2674Val) rs138655269 0.00121
NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=) rs143792929 0.00121
NM_004517.4(ILK):c.631C>T (p.Arg211Cys) rs140322345 0.00121
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile) rs148171058 0.00121
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=) rs45439097 0.00121
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558 0.00121
NM_177438.3(DICER1):c.5145C>T (p.Leu1715=) rs139500905 0.00121
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr) rs11570082 0.00120
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=) rs200800133 0.00120
NM_001377229.1(DISP1):c.1322C>T (p.Thr441Met) rs114523965 0.00120
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met) rs148123045 0.00120
NM_001458.5(FLNC):c.2180G>A (p.Arg727His) rs200618242 0.00120
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920 0.00120
NM_006715.4(MAN2C1):c.601-2A>G rs147928844 0.00120
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser) rs142786231 0.00120
NM_000037.4(ANK1):c.997G>A (p.Asp333Asn) rs147608206 0.00119
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_001184.4(ATR):c.2776T>C (p.Phe926Leu) rs141783863 0.00119
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=) rs138770431 0.00119
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=) rs183390773 0.00119
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387 0.00119
NM_004006.3(DMD):c.5620G>A (p.Glu1874Lys) rs142441725 0.00119
NM_006070.6(TFG):c.1060C>G (p.Pro354Ala) rs111356679 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_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743 0.00118
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721 0.00118
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) rs72646808 0.00118
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys) rs137979116 0.00118
NM_021815.5(SLC5A7):c.46C>T (p.Leu16Phe) rs143876748 0.00118
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_001999.4(FBN2):c.1592G>C (p.Gly531Ala) rs34450503 0.00117
NM_003126.4(SPTA1):c.3062A>T (p.Asp1021Val) rs200511900 0.00117
NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala) rs150672943 0.00117
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143 0.00117
NM_024577.4(SH3TC2):c.1178C>T (p.Ala393Val) rs148321018 0.00117
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_174936.4(PCSK9):c.525C>T (p.Asp175=) rs148612296 0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655 0.00116
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr) rs45490792 0.00116
NM_001005361.3(DNM2):c.1218C>T (p.Asp406=) rs147668465 0.00116
NM_001009944.3(PKD1):c.588C>T (p.Ser196=) rs776302294 0.00116
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_001457.4(FLNB):c.2493C>T (p.Pro831=) rs145952210 0.00116
NM_001854.4(COL11A1):c.3277-13A>C rs371455495 0.00116
NM_002471.4(MYH6):c.1122G>A (p.Ala374=) rs148091079 0.00116
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val) rs140317560 0.00116
NM_003321.5(TUFM):c.520-8A>T rs145900455 0.00116
NM_016169.4(SUFU):c.600C>T (p.Ile200=) rs149513330 0.00116
NM_000337.6(SGCD):c.213G>A (p.Arg71=) rs74846539 0.00115
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_001999.4(FBN2):c.4791C>T (p.Ile1597=) rs147040906 0.00115
NM_006031.6(PCNT):c.6957T>G (p.Phe2319Leu) rs61735813 0.00115
NM_023110.3(FGFR1):c.449-9C>G rs17182303 0.00115
NM_000335.5(SCN5A):c.1236C>T (p.Val412=) rs45565936 0.00114
NM_001114753.3(ENG):c.524-15C>T rs201463582 0.00114
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=) rs138968178 0.00114
NM_001943.5(DSG2):c.2703A>G (p.Lys901=) rs113591687 0.00114
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514 0.00114
NM_004333.6(BRAF):c.1433-19A>G rs369635503 0.00114
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276 0.00114
NM_000089.4(COL1A2):c.582T>G (p.Ala194=) rs144540908 0.00113
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359 0.00113
NM_000719.7(CACNA1C):c.1074G>A (p.Gln358=) rs139842134 0.00113
NM_001005361.3(DNM2):c.1782-5C>T rs200103145 0.00113
NM_001065.4(TNFRSF1A):c.935G>A (p.Arg312Lys) rs200900510 0.00113
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) rs140640738 0.00113
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) rs149567378 0.00113
NM_001355436.2(SPTB):c.4670A>G (p.Glu1557Gly) rs140648376 0.00113
NM_001355436.2(SPTB):c.6345+19T>A rs151232626 0.00113
NM_002241.5(KCNJ10):c.812G>A (p.Arg271His) rs3795339 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_016204.4(GDF2):c.352A>T (p.Ile118Phe) rs144456901 0.00113
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) rs41292592 0.00112
NM_001142864.4(PIEZO1):c.7374C>G (p.Phe2458Leu) rs202127176 0.00112
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857 0.00112
NM_133379.5(TTN):c.14492G>A (p.Cys4831Tyr) rs150615457 0.00112
NM_000304.4(PMP22):c.178+7C>A rs147885521 0.00111
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 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.89994G>A (p.Ser29998=) rs142891278 0.00111
NM_001370259.2(MEN1):c.30G>T (p.Leu10=) rs371192390 0.00111
NM_001457.4(FLNB):c.3522G>A (p.Ser1174=) rs140993979 0.00111
NM_001458.5(FLNC):c.4581-5T>A rs368660628 0.00111
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100 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.69821G>A (p.Gly23274Asp) rs201043950 0.00110
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) rs34193178 0.00110
NM_001999.4(FBN2):c.5353+10C>T rs113589974 0.00110
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_003126.4(SPTA1):c.174C>T (p.Phe58=) rs190704778 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_000478.6(ALPL):c.182-15C>G rs201873253 0.00109
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=) rs45487992 0.00109
NM_001142864.4(PIEZO1):c.7180G>A (p.Gly2394Ser) rs201950081 0.00109
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=) rs55832587 0.00109
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=) rs55956577 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_015512.5(DNAH1):c.9343C>T (p.Arg3115Trp) rs185397176 0.00109
NM_020435.4(GJC2):c.1193C>T (p.Thr398Ile) rs140942230 0.00109
NM_000016.6(ACADM):c.678A>G (p.Ala226=) rs2229249 0.00108
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala) rs56091799 0.00108
NM_000384.3(APOB):c.7612C>T (p.Leu2538=) rs72653093 0.00108
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596 0.00108
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_001127671.2(LIFR):c.670A>G (p.Ile224Val) rs151282774 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_003126.4(SPTA1):c.2600C>A (p.Ala867Glu) rs115877891 0.00108
NM_005529.7(HSPG2):c.149A>T (p.His50Leu) rs138518139 0.00108
NM_006254.4(PRKCD):c.603C>T (p.Ile201=) rs75794462 0.00108
NM_006721.4(ADK):c.1088G>A (p.Ter363=) rs148819558 0.00108
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=) rs188357478 0.00108
NM_020975.6(RET):c.1197G>A (p.Pro399=) rs148371113 0.00108
NM_021625.5(TRPV4):c.1308C>T (p.Ile436=) rs141244183 0.00108
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln) rs139192433 0.00108
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) rs34489989 0.00108
NM_181882.3(PRX):c.823C>A (p.Leu275Ile) rs200033507 0.00108
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser) rs147307031 0.00107
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) rs139848756 0.00107
NM_001142864.4(PIEZO1):c.2815C>A (p.Leu939Met) rs201226914 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_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_007294.4(BRCA1):c.765G>A (p.Glu255=) rs62625299 0.00107
NM_014049.5(ACAD9):c.988A>C (p.Lys330Gln) rs79530903 0.00107
NM_021939.4(FKBP10):c.1256C>T (p.Ser419Leu) rs146422412 0.00107
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=) rs114725374 0.00107
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907 0.00106
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_001103.4(ACTN2):c.1383C>T (p.Ile461=) rs34827377 0.00106
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553 0.00106
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485 0.00106
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477 0.00106
NM_001282426.2(PIK3CG):c.1722G>A (p.Leu574=) rs144082858 0.00106
NM_001369.3(DNAH5):c.1644+12A>G rs201116549 0.00106
NM_001395413.1(POR):c.1882G>A (p.Val628Ile) rs145782750 0.00106
NM_002474.3(MYH11):c.291C>T (p.Asn97=) rs113363750 0.00106
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met) rs145687082 0.00106
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00106
NM_014874.4(MFN2):c.165C>T (p.Thr55=) rs77458527 0.00106
NM_014874.4(MFN2):c.408A>T (p.Val136=) rs78814413 0.00106
NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser) rs139491925 0.00106
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339 0.00106
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999 0.00106
NM_000302.4(PLOD1):c.137G>A (p.Arg46His) rs142710681 0.00105
NM_000435.3(NOTCH3):c.4737-19C>T rs180755159 0.00105
NM_001142864.4(PIEZO1):c.6822C>T (p.Ser2274=) rs35686439 0.00105
NM_001355436.2(SPTB):c.204G>A (p.Leu68=) rs145077630 0.00105
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026 0.00105
NM_001844.5(COL2A1):c.709-8G>T rs200757693 0.00105
NM_003126.4(SPTA1):c.373G>A (p.Ala125Thr) rs201771255 0.00105
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270 0.00105
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291 0.00105
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn) rs139188673 0.00105
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803 0.00105
NM_000168.6(GLI3):c.3208A>T (p.Thr1070Ser) rs150907867 0.00104
NM_000371.4(TTR):c.417G>A (p.Thr139=) rs2276382 0.00104
NM_001040108.2(MLH3):c.4351G>A (p.Glu1451Lys) rs28939071 0.00104
NM_001042702.5(PJVK):c.86A>G (p.Asp29Gly) rs200502817 0.00104
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500 0.00104
NM_001267550.2(TTN):c.24150C>T (p.Ser8050=) rs185062935 0.00104
NM_001267550.2(TTN):c.29605-12T>C rs143352892 0.00104
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=) rs188584219 0.00104
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr) rs144668626 0.00104
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840 0.00104
NM_001927.4(DES):c.18G>A (p.Ser6=) rs199972656 0.00104
NM_006904.7(PRKDC):c.4435G>C (p.Val1479Leu) rs199731143 0.00104
NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser) rs144320036 0.00104
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu) rs1064422 0.00104
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe) rs41305898 0.00104
NM_201253.3(CRB1):c.2103C>G (p.Pro701=) rs144436610 0.00104
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_001142864.4(PIEZO1):c.1270T>C (p.Tyr424His) rs759627248 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.90826T>G (p.Cys30276Gly) rs150430592 0.00103
NM_001267550.2(TTN):c.94283G>A (p.Arg31428His) rs149375775 0.00103
NM_001355436.2(SPTB):c.1838G>T (p.Ser613Ile) rs3742601 0.00103
NM_001370466.1(NOD2):c.1211C>T (p.Ser404Leu) rs104895431 0.00103
NM_002691.4(POLD1):c.3054G>A (p.Val1018=) rs369613619 0.00103
NM_002838.5(PTPRC):c.1297G>A (p.Asp433Asn) rs140403368 0.00103
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459 0.00103
NM_015512.5(DNAH1):c.1351A>G (p.Lys451Glu) rs76591348 0.00103
NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg) rs139259804 0.00103
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_206933.4(USH2A):c.2256T>C (p.His752=) rs111033281 0.00103
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=) rs147961615 0.00102
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=) rs139544503 0.00102
NM_000188.3(HK1):c.2226G>A (p.Glu742=) rs141211718 0.00102
NM_000398.7(CYB5R3):c.463+13G>A rs150048774 0.00102
NM_000436.4(OXCT1):c.1080T>C (p.Asp360=) rs140869022 0.00102
NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met) rs201777030 0.00102
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248 0.00102
NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=) rs1801167 0.00102
NM_006096.4(NDRG1):c.789G>A (p.Ser263=) rs61755062 0.00102
NM_019594.4(LRRC8A):c.1606G>A (p.Val536Ile) rs138622041 0.00102
NM_133379.5(TTN):c.11254T>A (p.Ser3752Thr) rs144209883 0.00102
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys) rs111033508 0.00102
NM_000037.4(ANK1):c.3102C>T (p.Asn1034=) rs145169484 0.00101
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000093.5(COL5A1):c.1953C>T (p.Ser651=) rs78215347 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_000251.3(MSH2):c.819A>G (p.Val273=) rs146577635 0.00101
NM_000286.3(PEX12):c.722G>T (p.Gly241Val) rs139417458 0.00101
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994 0.00101
NM_000552.5(VWF):c.4443G>T (p.Gly1481=) rs144796763 0.00101
NM_001355436.2(SPTB):c.2060G>A (p.Arg687His) rs3742602 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_003126.4(SPTA1):c.2655T>C (p.Arg885=) rs368544526 0.00101
NM_004239.4(TRIP11):c.4069C>A (p.Gln1357Lys) rs144829001 0.00101
NM_004984.4(KIF5A):c.714+8G>A rs199624091 0.00101
NM_020975.6(RET):c.1157C>T (p.Ala386Val) rs115272158 0.00101
NM_024675.4(PALB2):c.909C>T (p.Leu303=) rs145788619 0.00101
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933 0.00101
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533 0.00100
NM_001267550.2(TTN):c.1776T>C (p.Asp592=) rs147081804 0.00100
NM_003239.5(TGFB3):c.164G>A (p.Ser55Asn) rs143229915 0.00100
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) rs148688181 0.00100
NM_005529.7(HSPG2):c.11671+11C>T rs368204073 0.00100
NM_020070.4(IGLL1):c.437C>T (p.Thr146Met) rs112775194 0.00100
NM_024334.3(TMEM43):c.392+16G>A rs150859949 0.00100
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610 0.00100
NM_032578.4(MYPN):c.3792C>T (p.Tyr1264=) rs142307556 0.00100
NM_000518.5(HBB):c.316-70C>G rs193922560 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_001267550.2(TTN):c.35876-9T>C rs572783607 0.00099
NM_001267550.2(TTN):c.39296-13C>T rs372380420 0.00099
NM_001854.4(COL11A1):c.3925-16C>T rs201491791 0.00099
NM_003172.4(SURF1):c.211G>C (p.Val71Leu) rs147993882 0.00099
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) rs143030960 0.00099
NM_020433.5(JPH2):c.1971G>A (p.Glu657=) rs142333841 0.00099
NM_020631.6(PLEKHG5):c.-88+6287G>A rs554689677 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_173495.3(PTCHD1):c.1311T>C (p.His437=) rs150186077 0.00099
NM_177438.3(DICER1):c.4014G>A (p.Ala1338=) rs143454689 0.00099
NM_181882.3(PRX):c.3110A>G (p.Glu1037Gly) rs148600818 0.00099
NM_201596.3(CACNB2):c.1560T>C (p.Pro520=) rs150280879 0.00099
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp) rs148153079 0.00099
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_002691.4(POLD1):c.1620C>T (p.Gly540=) rs140216790 0.00098
NM_003126.4(SPTA1):c.3357G>C (p.Lys1119Asn) rs200230894 0.00098
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_015404.4(WHRN):c.1943C>A (p.Ser648Tyr) rs142653982 0.00098
NM_021625.5(TRPV4):c.854-4G>A rs371733585 0.00098
NM_021939.4(FKBP10):c.1363A>G (p.Ile455Val) rs146701946 0.00098
NM_022489.4(INF2):c.2848C>T (p.Arg950Trp) rs199873407 0.00098
NM_000038.6(APC):c.5790A>G (p.Gln1930=) rs141152252 0.00097
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00097
NM_000142.5(FGFR3):c.193G>A (p.Gly65Arg) rs2305178 0.00097
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005 0.00097
NM_000458.4(HNF1B):c.1045+12T>C rs141166864 0.00097
NM_001009944.3(PKD1):c.10678G>A (p.Gly3560Arg) rs79000340 0.00097
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=) rs144122893 0.00097
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=) rs371480338 0.00097
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile) rs139192633 0.00097
NM_001349206.2(LPIN1):c.1225C>G (p.Gln409Glu) rs146529487 0.00097
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) rs138218523 0.00097
NM_006767.4(LZTR1):c.-11G>A rs370616172 0.00097
NM_007272.3(CTRC):c.555G>A (p.Thr185=) rs113087202 0.00097
NM_020779.4(WDR35):c.3335A>G (p.Lys1112Arg) rs138007924 0.00097
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_000059.4(BRCA2):c.6937+594T>G rs191253965 0.00096
NM_000238.4(KCNH2):c.1581G>A (p.Ala527=) rs150275982 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_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val) rs185341934 0.00096
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410 0.00096
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=) rs139926138 0.00096
NM_002439.5(MSH3):c.1453+15T>C rs200717987 0.00096
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_002890.3(RASA1):c.2528C>A (p.Thr843Asn) rs184201084 0.00096
NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=) rs146167897 0.00096
NM_007272.3(CTRC):c.494-6C>T rs111790169 0.00096
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr) rs200334298 0.00096
NM_021625.5(TRPV4):c.1913C>T (p.Pro638Leu) rs35058636 0.00096
NM_022124.6(CDH23):c.510C>T (p.Ser170=) rs143341423 0.00096
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343 0.00096
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_001164508.2(NEB):c.3986A>C (p.Asp1329Ala) rs115986826 0.00095
NM_002335.4(LRP5):c.263A>G (p.Lys88Arg) rs78219242 0.00095
NM_002471.4(MYH6):c.3303G>A (p.Val1101=) rs143825034 0.00095
NM_005188.4(CBL):c.1227+20dup rs530081144 0.00095
NM_007078.3(LDB3):c.993G>A (p.Ala331=) rs140347820 0.00095
NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val) rs56321129 0.00095
NM_020779.4(WDR35):c.770T>C (p.Val257Ala) rs142955097 0.00095
NM_022124.6(CDH23):c.8980-12C>T rs111583276 0.00095
NM_022489.4(INF2):c.507+7G>A rs201568246 0.00095
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) rs548525119 0.00094
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile) rs61750604 0.00094
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu) rs147950418 0.00094
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) rs55892928 0.00094
NM_003126.4(SPTA1):c.2889C>T (p.Asn963=) rs371639635 0.00094
NM_006231.4(POLE):c.1347G>A (p.Thr449=) rs142373951 0.00094
NM_016616.5(NME8):c.610A>G (p.Ile204Val) rs146777129 0.00094
NM_017636.4(TRPM4):c.2740A>T (p.Lys914Ter) rs140799936 0.00094
NM_032447.5(FBN3):c.3088G>A (p.Asp1030Asn) rs142237067 0.00094
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) rs147549623 0.00093
NM_000193.4(SHH):c.876G>A (p.Gly292=) rs112055654 0.00093
NM_000384.3(APOB):c.4838G>C (p.Ser1613Thr) rs61742247 0.00093
NM_000719.7(CACNA1C):c.3049-10C>T rs186741807 0.00093
NM_001267550.2(TTN):c.65776G>A (p.Val21926Met) rs145527033 0.00093
NM_001355436.2(SPTB):c.5277C>T (p.Asp1759=) rs73273601 0.00093
NM_001360016.2(G6PD):c.1458-13C>G rs371772243 0.00093
NM_002474.3(MYH11):c.4774A>C (p.Arg1592=) rs114556043 0.00093
NM_004239.4(TRIP11):c.1589G>A (p.Ser530Asn) rs138304419 0.00093
NM_005529.7(HSPG2):c.10512C>T (p.His3504=) rs55875654 0.00093
NM_006070.6(TFG):c.258G>T (p.Leu86=) rs150620449 0.00093
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553 0.00093
NM_021625.5(TRPV4):c.1284G>A (p.Gly428=) rs150773110 0.00093
NM_022041.4(GAN):c.283-20T>C rs371984923 0.00093
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930 0.00093
NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser) rs147826200 0.00093
NM_000038.6(APC):c.8043G>C (p.Pro2681=) rs149347068 0.00092
NM_000311.5(PRNP):c.655G>A (p.Glu219Lys) rs1800014 0.00092
NM_001291303.3(FAT4):c.11619C>T (p.Cys3873=) rs141328606 0.00092
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=) rs147318592 0.00092
NM_001370466.1(NOD2):c.-8-7T>A rs104895421 0.00092
NM_002471.4(MYH6):c.1083G>T (p.Gly361=) rs138928022 0.00092
NM_003126.4(SPTA1):c.4591G>C (p.Ala1531Pro) rs143779235 0.00092
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) rs142047577 0.00092
NM_022356.4(P3H1):c.1529A>G (p.Asn510Ser) rs149894086 0.00092
NM_152594.3(SPRED1):c.675C>T (p.Ser225=) rs144764225 0.00092
NM_000138.5(FBN1):c.783T>C (p.Asn261=) rs113721547 0.00091
NM_000182.5(HADHA):c.589G>T (p.Ala197Ser) rs116320983 0.00091
NM_000283.4(PDE6B):c.145G>T (p.Asp49Tyr) rs79826315 0.00091
NM_001114753.3(ENG):c.225G>A (p.Pro75=) rs116146060 0.00091
NM_001267550.2(TTN):c.58419A>G (p.Gln19473=) rs186563991 0.00091
NM_001457.4(FLNB):c.2453G>A (p.Arg818Gln) rs151259375 0.00091
NM_001530.4(HIF1A):c.1045G>A (p.Asp349Asn) rs142179458 0.00091
NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln) rs202217097 0.00091
NM_003126.4(SPTA1):c.5310+17A>G rs371671685 0.00091
NM_003126.4(SPTA1):c.5457A>G (p.Leu1819=) rs186994154 0.00091
NM_004444.5(EPHB4):c.2484+11C>T rs201432441 0.00091
NM_014000.3(VCL):c.660C>T (p.Asn220=) rs56264452 0.00091
NM_020631.6(PLEKHG5):c.918C>T (p.Asp306=) rs111624565 0.00091
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln) rs138842207 0.00090
NM_001377.3(DYNC2H1):c.9505A>G (p.Ile3169Val) rs200170585 0.00090
NM_001844.5(COL2A1):c.2831C>T (p.Pro944Leu) rs140368756 0.00090
NM_006005.3(WFS1):c.683G>A (p.Arg228His) rs150771247 0.00090
NM_080911.3(UNG):c.262C>T (p.Arg88Cys) rs151095402 0.00090
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser) rs200631556 0.00090
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu) rs363831 0.00089
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00089
NM_001243133.2(NLRP3):c.789C>T (p.Ser263=) rs146442638 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_001395413.1(POR):c.678C>T (p.Ala226=) rs72557906 0.00089
NM_001844.5(COL2A1):c.2095-4G>A rs111570218 0.00089
NM_004281.4(BAG3):c.1503C>A (p.Val501=) rs147277075 0.00089
NM_014874.4(MFN2):c.150C>A (p.Ile50=) rs78841746 0.00089
NM_014874.4(MFN2):c.1641C>T (p.Leu547=) rs140924661 0.00089
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=) rs148240825 0.00089
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187 0.00088
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala) rs45491005 0.00088
NM_000465.4(BARD1):c.90T>A (p.Gly30=) rs150354152 0.00088
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=) rs372702466 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.41010T>C (p.Asp13670=) rs193191368 0.00088
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499 0.00088
NM_002234.4(KCNA5):c.634C>T (p.Arg212Cys) rs77281462 0.00088
NM_002473.6(MYH9):c.4727G>A (p.Arg1576Gln) rs143269195 0.00088
NM_002880.4(RAF1):c.1830A>G (p.Gln610=) rs141791080 0.00088
NM_003978.5(PSTPIP1):c.418-20A>G rs545542379 0.00088
NM_006017.3(PROM1):c.714A>G (p.Gly238=) rs201662148 0.00088
NM_024334.3(TMEM43):c.163-6T>A rs372434224 0.00088
NM_053025.4(MYLK):c.3832-6C>T rs185681684 0.00088
NM_000169.3(GLA):c.639+18G>A rs189319122 0.00087
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=) rs41298745 0.00087
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_000546.6(TP53):c.994-17C>T rs368691910 0.00087
NM_001142864.4(PIEZO1):c.4668+12C>T rs368128554 0.00087
NM_001267550.2(TTN):c.95205C>T (p.Asp31735=) rs373182578 0.00087
NM_001291303.3(FAT4):c.3682C>G (p.Gln1228Glu) rs200227715 0.00087
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622 0.00087
NM_004415.4(DSP):c.7734C>T (p.Ser2578=) rs28763970 0.00087
NM_020822.3(KCNT1):c.2994G>A (p.Leu998=) rs143198263 0.00087
NM_000053.4(ATP7B):c.2174G>A (p.Arg725Lys) rs115227204 0.00086
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00086
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894 0.00086
NM_000492.4(CFTR):c.4243-20A>G rs138025486 0.00086
NM_001844.5(COL2A1):c.507C>T (p.Pro169=) rs143851987 0.00086
NM_003073.5(SMARCB1):c.500+24C>G rs199737164 0.00086
NM_005529.7(HSPG2):c.8381G>A (p.Arg2794Gln) rs141563188 0.00086
NM_014000.3(VCL):c.1572C>T (p.Ala524=) rs138566234 0.00086
NM_014845.6(FIG4):c.1584-8T>A rs199522051 0.00086
NM_016203.4(PRKAG2):c.1584+7C>T rs111627309 0.00086
NM_018979.4(WNK1):c.1855A>G (p.Thr619Ala) rs149388376 0.00086
NM_000098.3(CPT2):c.353A>G (p.Asp118Gly) rs148035648 0.00085
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444 0.00085
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr) rs140736502 0.00085
NM_001457.4(FLNB):c.2494G>A (p.Ala832Thr) rs114804033 0.00085
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00085
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala) rs148410446 0.00085
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr) rs145680314 0.00085
NM_000178.4(GSS):c.1253G>A (p.Arg418Gln) rs150141794 0.00084
NM_000548.5(TSC2):c.1860G>A (p.Leu620=) rs45492397 0.00084
NM_001142864.4(PIEZO1):c.5874C>T (p.Thr1958=) rs150214594 0.00084
NM_004655.4(AXIN2):c.1985T>C (p.Leu662Pro) rs142476324 0.00084
NM_005529.7(HSPG2):c.10917C>T (p.Tyr3639=) rs111558823 0.00084
NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu) rs142461689 0.00084
NM_014324.6(AMACR):c.554T>C (p.Val185Ala) rs145786819 0.00084
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=) rs146673563 0.00084
NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val) rs372615343 0.00084
NM_000071.3(CBS):c.1257G>A (p.Leu419=) rs138432416 0.00083
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 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_000352.6(ABCC8):c.1707C>T (p.Ala569=) rs147623093 0.00083
NM_000398.7(CYB5R3):c.637G>A (p.Glu213Lys) rs61745147 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_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748 0.00083
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_001375808.2(LPIN2):c.1159A>G (p.Lys387Glu) rs104895501 0.00083
NM_001375808.2(LPIN2):c.1876C>T (p.Pro626Ser) rs150806357 0.00083
NM_002473.6(MYH9):c.1242C>T (p.Ile414=) rs138436678 0.00083
NM_002907.4(RECQL):c.1099-17A>G rs369816935 0.00083
NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser) rs145319352 0.00083
NM_004086.3(COCH):c.1348A>G (p.Ile450Val) rs139503327 0.00083
NM_004415.4(DSP):c.741G>A (p.Ala247=) rs2806234 0.00083
NM_005529.7(HSPG2):c.7096G>A (p.Gly2366Arg) rs140476180 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_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578 0.00083
NM_014874.4(MFN2):c.1452G>A (p.Thr484=) rs150043585 0.00083
NM_017433.5(MYO3A):c.1242A>T (p.Gly414=) rs3758442 0.00083
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) rs150367317 0.00083
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00083
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=) rs45486193 0.00082
NM_001037.5(SCN1B):c.351C>T (p.Gly117=) rs3746255 0.00082
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=) rs148354076 0.00082
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile) rs72649002 0.00082
NM_003073.5(SMARCB1):c.267C>T (p.Thr89=) rs141275968 0.00082
NM_003978.5(PSTPIP1):c.1134G>A (p.Leu378=) rs529402949 0.00082
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223 0.00082
NM_022489.4(INF2):c.1950-10C>T rs199987321 0.00082
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000142.5(FGFR3):c.1923C>T (p.Asp641=) rs148104605 0.00081
NM_000352.6(ABCC8):c.4198+18C>T rs373178978 0.00081
NM_000365.6(TPI1):c.366C>T (p.Leu122=) rs138131191 0.00081
NM_000435.3(NOTCH3):c.1607-5C>A rs372869012 0.00081
NM_000435.3(NOTCH3):c.2835G>A (p.Ser945=) rs141346023 0.00081
NM_000545.8(HNF1A):c.1107+9C>G rs17847497 0.00081
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012 0.00081
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=) rs193022702 0.00081
NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=) rs187451323 0.00081
NM_001377.3(DYNC2H1):c.2482A>G (p.Met828Val) rs200961157 0.00081
NM_001605.3(AARS1):c.1632C>T (p.Asp544=) rs149425243 0.00081
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090 0.00081
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_005548.3(KARS1):c.612A>G (p.Thr204=) rs141539149 0.00081
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val) rs142284613 0.00081
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_000316.3(PTH1R):c.1305G>A (p.Thr435=) rs142921504 0.00080
NM_000815.5(GABRD):c.658C>T (p.Arg220Cys) rs139300921 0.00080
NM_001009944.3(PKD1):c.8247G>A (p.Ala2749=) rs143265128 0.00080
NM_001110556.2(FLNA):c.3805+16G>A rs201016252 0.00080
NM_001142864.4(PIEZO1):c.3602C>T (p.Thr1201Met) rs372935580 0.00080
NM_002471.4(MYH6):c.735+16C>T rs76202841 0.00080
NM_000540.3(RYR1):c.10119G>A (p.Val3373=) rs140689610 0.00079
NM_001267550.2(TTN):c.45174C>T (p.Gly15058=) rs372609980 0.00079
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=) rs190406444 0.00079
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met) rs141353229 0.00079
NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys) rs111404182 0.00079
NM_005529.7(HSPG2):c.13145C>A (p.Ala4382Asp) rs116316900 0.00079
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys) rs28937880 0.00079
NM_023110.3(FGFR1):c.1098G>A (p.Pro366=) rs56174879 0.00079
NM_032043.3(BRIP1):c.2257+19A>C rs77851913 0.00079
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328 0.00078
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_000209.4(PDX1):c.165C>A (p.Gly55=) rs530567443 0.00078
NM_000283.4(PDE6B):c.1497T>G (p.Phe499Leu) rs150000610 0.00078
NM_000399.5(EGR2):c.246C>G (p.Val82=) rs144217451 0.00078
NM_001105206.3(LAMA4):c.2403G>A (p.Thr801=) rs142559688 0.00078
NM_001184.4(ATR):c.5987T>C (p.Met1996Thr) rs150339560 0.00078
NM_001235.5(SERPINH1):c.492C>T (p.Arg164=) rs150586616 0.00078
NM_001267550.2(TTN):c.54812-5A>G rs375343798 0.00078
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298 0.00078
NM_001376.5(DYNC1H1):c.5310C>T (p.Gly1770=) rs34013442 0.00078
NM_001430.5(EPAS1):c.1104G>A (p.Met368Ile) rs61757375 0.00078
NM_001918.5(DBT):c.327C>T (p.Thr109=) rs138796800 0.00078
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met) rs111854563 0.00078
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) rs376049260 0.00078
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr) rs116630187 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_006254.4(PRKCD):c.315+9C>A rs200076653 0.00078
NM_015046.7(SETX):c.192A>G (p.Leu64=) rs117326462 0.00078
NM_015046.7(SETX):c.5949+5G>A rs374656811 0.00078
NM_015139.3(SLC35D1):c.814G>A (p.Ala272Thr) rs143218310 0.00078
NM_015404.4(WHRN):c.2438C>T (p.Thr813Met) rs143728180 0.00078
NM_016169.4(SUFU):c.412G>A (p.Ala138Thr) rs34406289 0.00078
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_032043.3(BRIP1):c.918+15T>A rs117820198 0.00078
NM_053025.4(MYLK):c.373+18C>T rs140559450 0.00078
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285 0.00078
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163 0.00077
NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys) rs112250644 0.00077
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=) rs35282988 0.00077
NM_001142864.4(PIEZO1):c.5291A>C (p.Glu1764Ala) rs530387460 0.00077
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705 0.00077
NM_001927.4(DES):c.170C>T (p.Ser57Leu) rs372825868 0.00077
NM_002335.4(LRP5):c.1413-7T>A rs141889567 0.00077
NM_002972.4(SBF1):c.3760C>T (p.Arg1254Cys) rs200180227 0.00077
NM_003737.4(DCHS1):c.704G>A (p.Arg235Gln) rs143767864 0.00077
NM_004444.5(EPHB4):c.691C>T (p.Pro231Ser) rs147563837 0.00077
NM_004984.4(KIF5A):c.2199-4G>A rs201366820 0.00077
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006 0.00077
NM_032415.7(CARD11):c.3145-3C>T rs200456391 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_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) rs370890951 0.00076
NM_000398.7(CYB5R3):c.471C>T (p.Phe157=) rs149158903 0.00076
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_001114753.3(ENG):c.234G>A (p.Leu78=) rs115675061 0.00076
NM_001243133.2(NLRP3):c.930C>T (p.Asp310=) rs143840033 0.00076
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=) rs201285872 0.00076
NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser) rs104895467 0.00076
NM_001458.5(FLNC):c.6175G>A (p.Val2059Met) rs201333104 0.00076
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880 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_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653 0.00076
NM_003482.4(KMT2D):c.3737C>T (p.Thr1246Met) rs112921115 0.00076
NM_004655.4(AXIN2):c.270C>T (p.Asp90=) rs141655687 0.00076
NM_005188.4(CBL):c.2036+9G>T rs142704935 0.00076
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083 0.00076
NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His) rs104894649 0.00076
NM_015046.7(SETX):c.81C>T (p.Ser27=) rs149229231 0.00076
NM_018706.7(DHTKD1):c.1550C>T (p.Ala517Val) rs142006153 0.00076
NM_174936.4(PCSK9):c.1851C>T (p.Ala617=) rs140364657 0.00076
NM_000288.4(PEX7):c.339+10A>G rs374668045 0.00075
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn) rs149359120 0.00075
NM_001110556.2(FLNA):c.3064C>G (p.Pro1022Ala) rs200150148 0.00075
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543 0.00075
NM_003122.5(SPINK1):c.-147A>G rs779832256 0.00075
NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly) rs139871607 0.00075
NM_005529.7(HSPG2):c.4568G>A (p.Arg1523His) rs147633715 0.00075
NM_005548.3(KARS1):c.717T>G (p.Phe239Leu) rs117188693 0.00075
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp) rs77984885 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_000316.3(PTH1R):c.313+4C>T rs200207404 0.00074
NM_000530.8(MPZ):c.504G>A (p.Val168=) rs145592910 0.00074
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446 0.00074
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=) rs151335428 0.00074
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln) rs139306043 0.00074
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu) rs180775012 0.00074
NM_032409.3(PINK1):c.1015G>A (p.Ala339Thr) rs55831733 0.00074
NM_058216.3(RAD51C):c.146-8A>G rs201079501 0.00074
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=) rs117672175 0.00073
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606 0.00073
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334 0.00073
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_001114753.3(ENG):c.219+22C>T rs370257876 0.00073
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00073
NM_001244008.2(KIF1A):c.1208-40G>A rs375833834 0.00073
NM_001370259.2(MEN1):c.-22C>A rs374749001 0.00073
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile) rs41263847 0.00073
NM_003060.4(SLC22A5):c.279G>C (p.Ser93=) rs377734902 0.00073
NM_003126.4(SPTA1):c.4564A>G (p.Thr1522Ala) rs201910178 0.00073
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys) rs113594027 0.00073
NM_016239.4(MYO15A):c.3196G>C (p.Ala1066Pro) rs199537186 0.00073
NM_025114.4(CEP290):c.341G>A (p.Arg114His) rs150296134 0.00073
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp) rs138081804 0.00072
NM_018979.4(WNK1):c.4983T>C (p.Ser1661=) rs149852592 0.00072
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842 0.00071
NM_000243.3(MEFV):c.277+6C>T rs7199464 0.00071
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125 0.00071
NM_001035.3(RYR2):c.1134C>T (p.Asp378=) rs193922621 0.00071
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=) rs138064129 0.00071
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) rs200048692 0.00071
NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser) rs199910006 0.00071
NM_001184.4(ATR):c.2226T>C (p.Cys742=) rs147895945 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_001457.4(FLNB):c.3288C>T (p.Ser1096=) rs77934864 0.00071
NM_002890.3(RASA1):c.1394G>A (p.Arg465His) rs181630831 0.00071
NM_004006.3(DMD):c.5476G>C (p.Glu1826Gln) rs140913030 0.00071
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00071
NM_006231.4(POLE):c.6004+11A>G rs201591857 0.00071
NM_014822.4(SEC24D):c.2135A>C (p.Asn712Thr) rs146773641 0.00071
NM_021625.5(TRPV4):c.2472G>A (p.Ser824=) rs149988106 0.00071
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser) rs149925563 0.00071
NM_000132.4(F8):c.102C>T (p.Asp34=) rs1800283 0.00070
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_000435.3(NOTCH3):c.4025C>A (p.Ala1342Asp) rs888391580 0.00070
NM_001243133.2(NLRP3):c.1463G>A (p.Arg488Lys) rs145268073 0.00070
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871 0.00070
NM_002471.4(MYH6):c.3980C>T (p.Ala1327Val) rs148558068 0.00070
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=) rs139091551 0.00070
NM_005529.7(HSPG2):c.11671+5G>A rs77527456 0.00070
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_153676.4(USH1C):c.1740T>C (p.Pro580=) rs200085788 0.00070
NM_177438.3(DICER1):c.3428T>C (p.Leu1143Pro) rs139786661 0.00070
NM_177438.3(DICER1):c.59C>T (p.Ala20Val) rs147660793 0.00070
NM_177438.3(DICER1):c.924C>T (p.Ala308=) rs142397473 0.00070
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_000088.4(COL1A1):c.3965G>A (p.Arg1322Lys) rs138544681 0.00069
NM_000637.5(GSR):c.694G>A (p.Gly232Ser) rs8190976 0.00069
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134 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_001142864.4(PIEZO1):c.2685C>T (p.Asn895=) rs533555270 0.00069
NM_001142864.4(PIEZO1):c.5773C>T (p.Arg1925Trp) rs201442593 0.00069
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412 0.00069
NM_003659.4(AGPS):c.64G>A (p.Ala22Thr) rs759572190 0.00069
NM_005413.4(SIX3):c.348C>T (p.Pro116=) rs573768953 0.00069
NM_016156.6(MTMR2):c.1805C>G (p.Ala602Gly) rs76784113 0.00069
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=) rs4987050 0.00069
NM_144687.4(NLRP12):c.2579C>G (p.Thr860Ser) rs150671525 0.00069
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_001103.4(ACTN2):c.877-6G>A rs397516585 0.00068
NM_001142864.4(PIEZO1):c.1591C>T (p.Arg531Cys) rs146505418 0.00068
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704 0.00068
NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn) rs145675502 0.00068
NM_001370466.1(NOD2):c.379G>A (p.Asp127Asn) rs146054564 0.00068
NM_001371279.1(REEP1):c.837G>T (p.Ser279=) rs377637314 0.00068
NM_001854.4(COL11A1):c.489-7T>G rs372555374 0.00068
NM_003126.4(SPTA1):c.4862T>A (p.Phe1621Tyr) rs374298000 0.00068
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=) rs372175239 0.00068
NM_025132.4(WDR19):c.2671C>T (p.His891Tyr) rs200266424 0.00068
NM_173477.5(USH1G):c.1012G>A (p.Gly338Arg) rs151242039 0.00068
NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys) rs142626656 0.00067
NM_000071.3(CBS):c.829-13G>A rs201106576 0.00067
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000264.5(PTCH1):c.3633C>G (p.Pro1211=) rs56007343 0.00067
NM_000478.6(ALPL):c.612C>T (p.Ile204=) rs141448778 0.00067
NM_000551.4(VHL):c.183C>G (p.Pro61=) rs63650860 0.00067
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519 0.00067
NM_001130823.3(DNMT1):c.2472G>A (p.Thr824=) rs45484792 0.00067
NM_001142864.4(PIEZO1):c.1688C>T (p.Thr563Met) rs192347853 0.00067
NM_001276345.2(TNNT2):c.98-81G>A rs45576939 0.00067
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=) rs145884117 0.00067
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr) rs515726209 0.00067
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015 0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp) rs148033154 0.00067
NM_000059.4(BRCA2):c.-15A>C rs138705202 0.00066
NM_000088.4(COL1A1):c.3099+7T>C rs201682029 0.00066
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311 0.00066
NM_000179.3(MSH6):c.1665A>G (p.Ala555=) rs146785465 0.00066
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr) rs45563942 0.00066
NM_001103.4(ACTN2):c.2649G>A (p.Ala883=) rs146426213 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_001375808.2(LPIN2):c.1815G>A (p.Ser605=) rs143702044 0.00066
NM_001379180.1(ESRRB):c.*1517C>T rs201726554 0.00066
NM_001457.4(FLNB):c.4233C>G (p.Phe1411Leu) rs143831841 0.00066
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_003126.4(SPTA1):c.3389A>G (p.Asn1130Ser) rs202016242 0.00066
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362 0.00066
NM_004006.3(DMD):c.4233+2C>T rs147474070 0.00066
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) rs146309392 0.00066
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His) rs149644947 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_181776.3(SLC36A2):c.1411G>A (p.Asp471Asn) rs140682366 0.00066
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_001005373.4(LRSAM1):c.1974T>C (p.Ser658=) rs140336379 0.00065
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter) rs151093663 0.00065
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) rs200835571 0.00065
NM_001142864.4(PIEZO1):c.1495G>A (p.Val499Ile) rs530486445 0.00065
NM_001355436.2(SPTB):c.2519G>A (p.Arg840His) rs146326769 0.00065
NM_002180.3(IGHMBP2):c.548-10T>G rs139207271 0.00065
NM_002474.3(MYH11):c.633+1942T>C rs199755371 0.00065
NM_005529.7(HSPG2):c.3794-3C>A rs141000672 0.00065
NM_006158.5(NEFL):c.639C>G (p.Ile213Met) rs62636522 0.00065
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_007294.4(BRCA1):c.4840C>T (p.Pro1614Ser) rs70953660 0.00065
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063 0.00065
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=) rs142106322 0.00065
NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val) rs200646244 0.00065
NM_000071.3(CBS):c.296T>A (p.Phe99Tyr) rs112029370 0.00064
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946 0.00064
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00064
NM_000302.4(PLOD1):c.804C>T (p.Thr268=) rs140758113 0.00064
NM_000335.5(SCN5A):c.630G>A (p.Val210=) rs193922727 0.00064
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_001148.6(ANK2):c.8979A>G (p.Ile2993Met) rs112252825 0.00064
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala) rs377289817 0.00064
NM_001377.3(DYNC2H1):c.5449A>G (p.Met1817Val) rs200208000 0.00064
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_004006.3(DMD):c.3326A>T (p.Asn1109Ile) rs200596739 0.00064
NM_004655.4(AXIN2):c.1250C>T (p.Ala417Val) rs201460658 0.00064
NM_004655.4(AXIN2):c.2285G>A (p.Ser762Asn) rs117688560 0.00064
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556 0.00064
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00064
NM_012186.3(FOXE3):c.929G>A (p.Gly310Asp) rs571095192 0.00064
NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp) rs200038418 0.00064
NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn) rs201963605 0.00064
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His) rs202170644 0.00064
NM_000222.3(KIT):c.503C>T (p.Ala168Val) rs149092990 0.00063
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp) rs148046938 0.00063
NM_000719.7(CACNA1C):c.5451C>T (p.His1817=) rs113239186 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_001195248.2(APTX):c.513G>A (p.Leu171=) rs140888559 0.00063
NM_001199397.3(NEK1):c.2137G>A (p.Val713Met) rs199827465 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_001355436.2(SPTB):c.5855T>C (p.Ile1952Thr) rs138039383 0.00063
NM_003060.4(SLC22A5):c.1579G>C (p.Val527Leu) rs145792427 0.00063
NM_005529.7(HSPG2):c.10609G>A (p.Gly3537Arg) rs145048530 0.00063
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly) rs141619382 0.00063
NM_006254.4(PRKCD):c.1447C>T (p.Arg483Trp) rs35891605 0.00063
NM_024577.4(SH3TC2):c.1483A>G (p.Thr495Ala) rs10077543 0.00063
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg) rs144851946 0.00063
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333 0.00063
NM_000249.4(MLH1):c.375A>G (p.Ala125=) rs1800144 0.00062
NM_001142864.4(PIEZO1):c.6661-12T>G rs540049109 0.00062
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala) rs200118743 0.00062
NM_001366110.1(PAX4):c.1013C>T (p.Ala338Val) rs2233583 0.00062
NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=) rs200993187 0.00062
NM_003659.4(AGPS):c.1380A>C (p.Pro460=) rs148418568 0.00062
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_005529.7(HSPG2):c.732A>G (p.Thr244=) rs139842104 0.00062
NM_018979.4(WNK1):c.7021G>A (p.Gly2341Ser) rs146042595 0.00062
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869 0.00061
NM_000088.4(COL1A1):c.1461+13G>T rs371161009 0.00061
NM_000393.5(COL5A2):c.3471+8A>T rs367643805 0.00061
NM_001009944.3(PKD1):c.2655C>T (p.Cys885=) rs142606648 0.00061
NM_001009944.3(PKD1):c.3444G>A (p.Pro1148=) rs117955701 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.20335A>T (p.Ser6779Cys) rs149470241 0.00061
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala) rs200771189 0.00061
NM_001291303.3(FAT4):c.5792A>G (p.Tyr1931Cys) rs139716832 0.00061
NM_001368067.1(LDB3):c.780C>T (p.Asn260=) rs372789789 0.00061
NM_001943.5(DSG2):c.852T>C (p.Asn284=) rs62095193 0.00061
NM_002180.3(IGHMBP2):c.1290C>T (p.Tyr430=) rs140654955 0.00061
NM_002473.6(MYH9):c.4344+10C>T rs200977419 0.00061
NM_002474.3(MYH11):c.2049C>T (p.His683=) rs150924100 0.00061
NM_002529.4(NTRK1):c.602C>A (p.Pro201His) rs146201511 0.00061
NM_003060.4(SLC22A5):c.1441G>A (p.Val481Ile) rs11568513 0.00061
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=) rs142459158 0.00061
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600 0.00061
NM_203486.3(DLL3):c.153C>T (p.Ser51=) rs373980582 0.00061
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917 0.00061
NM_206933.4(USH2A):c.6924A>G (p.Ala2308=) rs148504065 0.00061
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955 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_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00060
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242 0.00060
NM_000552.5(VWF):c.3719C>T (p.Pro1240Leu) rs150576611 0.00060
NM_001110556.2(FLNA):c.3876C>T (p.His1292=) rs199917719 0.00060
NM_001142864.4(PIEZO1):c.3699+6C>T rs147726156 0.00060
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=) rs188063446 0.00060
NM_001458.5(FLNC):c.1519G>A (p.Gly507Arg) rs189525930 0.00060
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_003659.4(AGPS):c.637+13C>T rs182602770 0.00060
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg) rs143326964 0.00060
NM_006031.6(PCNT):c.5815C>T (p.Arg1939Trp) rs575313866 0.00060
NM_007272.3(CTRC):c.640-14C>T rs202049497 0.00060
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_019844.4(SLCO1B3):c.1593A>G (p.Thr531=) rs142694767 0.00060
NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr) rs200115167 0.00060
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser) rs186924074 0.00059
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076 0.00059
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492 0.00059
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641 0.00059
NM_001042492.3(NF1):c.7410T>C (p.Asn2470=) rs17881903 0.00059
NM_001142864.4(PIEZO1):c.6205G>A (p.Val2069Met) rs199752762 0.00059
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=) rs141242095 0.00059
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222 0.00059
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro) rs56119278 0.00059
NM_014874.4(MFN2):c.1495+9C>T rs375494746 0.00059
NM_015915.5(ATL1):c.669C>T (p.Tyr223=) rs146975855 0.00059
NM_020779.4(WDR35):c.1227A>G (p.Thr409=) rs148828104 0.00059
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys) rs199587998 0.00059
NM_177438.3(DICER1):c.5203C>T (p.Leu1735=) rs188609628 0.00059
NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp) rs147589613 0.00058
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253 0.00058
NM_000257.4(MYH7):c.2514G>A (p.Pro838=) rs45560638 0.00058
NM_000518.5(HBB):c.316-37G>T rs193922559 0.00058
NM_000552.5(VWF):c.1329C>T (p.Ser443=) rs142404899 0.00058
NM_000719.7(CACNA1C):c.4317C>T (p.Asn1439=) rs183192651 0.00058
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile) rs140162759 0.00058
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile) rs72558029 0.00058
NM_001039141.3(TRIOBP):c.4077T>C (p.Pro1359=) rs139074745 0.00058
NM_001136472.2(LITAF):c.377+13C>G rs200357430 0.00058
NM_001142864.4(PIEZO1):c.4955+8C>T rs533263001 0.00058
NM_001142864.4(PIEZO1):c.6905G>A (p.Arg2302His) rs200555745 0.00058
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431 0.00058
NM_001360016.2(G6PD):c.120+3617T>C rs368857323 0.00058
NM_002661.5(PLCG2):c.77C>T (p.Thr26Met) rs189301790 0.00058
NM_004239.4(TRIP11):c.5887G>A (p.Ala1963Thr) rs61742059 0.00058
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=) rs145756629 0.00058
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677 0.00058
NM_022114.4(PRDM16):c.2603+6C>T rs374549827 0.00058
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro) rs149522412 0.00058
NR_003051.3(RMRP):n.-12A>C rs372044910 0.00058
NM_000037.4(ANK1):c.1467G>A (p.Leu489=) rs148165519 0.00057
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His) rs144797861 0.00057
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584 0.00057
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile) rs149425237 0.00057
NM_001032386.2(SUOX):c.228G>T (p.Arg76Ser) rs202085145 0.00057
NM_001110556.2(FLNA):c.7756+8A>G rs201663443 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_001377.3(DYNC2H1):c.7143A>G (p.Val2381=) rs79832792 0.00057
NM_001458.5(FLNC):c.2390-8C>G rs146063718 0.00057
NM_002474.3(MYH11):c.12G>A (p.Lys4=) rs112650390 0.00057
NM_002474.3(MYH11):c.4203C>T (p.Ile1401=) rs760611400 0.00057
NM_004360.5(CDH1):c.2439+10C>T rs35236080 0.00057
NM_005428.4(VAV1):c.738T>C (p.Val246=) rs61761611 0.00057
NM_014797.3(ZBTB24):c.1688T>C (p.Ile563Thr) rs142830104 0.00057
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala) rs74533482 0.00057
NM_201596.3(CACNB2):c.1592G>A (p.Arg531His) rs184280124 0.00057
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser) rs35130237 0.00056
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00056
NM_000071.3(CBS):c.215A>T (p.Lys72Ile) rs192232907 0.00056
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749 0.00056
NM_000342.4(SLC4A1):c.2340G>A (p.Leu780=) rs139912334 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_000518.4(HBB):c.*138T>G rs560643693 0.00056
NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=) rs201488545 0.00056
NM_001142864.4(PIEZO1):c.3437C>T (p.Pro1146Leu) rs538640563 0.00056
NM_001142864.4(PIEZO1):c.997C>T (p.Arg333Cys) rs143004911 0.00056
NM_001159773.2(CANT1):c.1063G>A (p.Asp355Asn) rs145516713 0.00056
NM_001267550.2(TTN):c.296-14T>C rs199951296 0.00056
NM_001291303.3(FAT4):c.12769G>A (p.Glu4257Lys) rs143513466 0.00056
NM_001844.5(COL2A1):c.195C>T (p.Asp65=) rs202210896 0.00056
NM_002474.3(MYH11):c.429G>A (p.Lys143=) rs200672270 0.00056
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_004656.4(BAP1):c.294C>T (p.Ser98=) rs140641333 0.00056
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp) rs140929639 0.00056
NM_006371.5(CRTAP):c.655G>A (p.Gly219Ser) rs145048208 0.00056
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262 0.00056
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly) rs201354264 0.00056
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00055
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00055
NM_001379610.1(SPINK1):c.194G>A (p.Arg65Gln) rs141634296 0.00055
NM_004304.5(ALK):c.469C>T (p.Pro157Ser) rs74774946 0.00055
NM_004612.4(TGFBR1):c.46G>A (p.Val16Met) rs1021523079 0.00055
NM_016203.4(PRKAG2):c.1106+9G>C rs200429988 0.00055
NM_020297.4(ABCC9):c.2770-13A>G rs184123387 0.00055
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr) rs116952709 0.00055
NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp) rs2229790 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_000218.3(KCNQ1):c.1332G>A (p.Thr444=) rs144985256 0.00054
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg) rs28931583 0.00054
NM_000350.3(ABCA4):c.981C>T (p.Pro327=) rs61753057 0.00054
NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=) rs200258756 0.00054
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855 0.00054
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409 0.00054
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln) rs372174546 0.00054
NM_002471.4(MYH6):c.3573C>T (p.Ala1191=) rs727505358 0.00054
NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser) rs150576530 0.00054
NM_003126.4(SPTA1):c.7068A>C (p.Glu2356Asp) rs78598639 0.00054
NM_003238.6(TGFB2):c.357G>A (p.Pro119=) rs138514914 0.00054
NM_004006.3(DMD):c.3020C>T (p.Ser1007Leu) rs144732570 0.00054
NM_005633.4(SOS1):c.749T>C (p.Val250Ala) rs139290271 0.00054
NM_005751.5(AKAP9):c.10845G>A (p.Lys3615=) rs138739292 0.00054
NM_006579.3(EBP):c.512G>A (p.Arg171His) rs144209735 0.00054
NM_007194.4(CHEK2):c.793-11G>A rs5997387 0.00054
NM_007294.4(BRCA1):c.301+8T>C rs80358101 0.00054
NM_021625.5(TRPV4):c.1656del (p.Tyr553fs) rs541606391 0.00054
NM_000018.4(ACADVL):c.63-35G>A rs774905326 0.00053
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208 0.00053
NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg) rs148870919 0.00053
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=) rs148024160 0.00053
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_000264.5(PTCH1):c.1847+14C>T rs202007968 0.00053
NM_000455.5(STK11):c.426C>T (p.Ser142=) rs758448869 0.00053
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln) rs147992238 0.00053
NM_001130823.3(DNMT1):c.3492C>T (p.Cys1164=) rs140951214 0.00053
NM_001142864.4(PIEZO1):c.7153G>A (p.Val2385Met) rs369319123 0.00053
NM_001330.5(CTF1):c.280C>T (p.Leu94=) rs397516648 0.00053
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser) rs140985224 0.00053
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu) rs141594765 0.00053
NM_002472.3(MYH8):c.1731G>C (p.Glu577Asp) rs75160168 0.00053
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=) rs112861184 0.00053
NM_002691.4(POLD1):c.1665C>T (p.Val555=) rs150238541 0.00053
NM_005529.7(HSPG2):c.11256G>A (p.Leu3752=) rs144122107 0.00053
NM_006231.4(POLE):c.6495C>T (p.Arg2165=) rs114778730 0.00053
NM_017553.3(INO80):c.2998C>T (p.Arg1000Cys) rs149600837 0.00053
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=) rs138986228 0.00053
NM_080680.3(COL11A2):c.3975G>A (p.Ser1325=) rs139564431 0.00053
NM_133379.5(TTN):c.14812A>G (p.Met4938Val) rs145581345 0.00053
NM_000124.4(ERCC6):c.2741C>T (p.Thr914Met) rs142580756 0.00052
NM_000142.5(FGFR3):c.2088C>T (p.Pro696=) rs142884145 0.00052
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=) rs149924365 0.00052
NM_001177316.2(SLC34A3):c.1453C>T (p.Arg485Cys) rs145029982 0.00052
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) rs376810671 0.00052
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=) rs201804323 0.00052
NM_002474.3(MYH11):c.1732A>G (p.Ile578Val) rs111936548 0.00052
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_019844.4(SLCO1B3):c.335C>A (p.Ser112Tyr) rs145334570 0.00052
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln) rs142877365 0.00052
NM_133459.4(CCBE1):c.265+8A>C rs181010692 0.00052
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00051
NM_000016.6(ACADM):c.666C>A (p.Phe222Leu) rs139457557 0.00051
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=) rs150518187 0.00051
NM_000071.3(CBS):c.829-14C>T rs370697155 0.00051
NM_000095.3(COMP):c.218-7C>G rs554031979 0.00051
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu) rs121912759 0.00051
NM_000384.3(APOB):c.895T>G (p.Phe299Val) rs72653060 0.00051
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_000548.5(TSC2):c.975+13C>T rs200564575 0.00051
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882 0.00051
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750 0.00051
NM_001110556.2(FLNA):c.6907+14G>T rs199934017 0.00051
NM_001243133.2(NLRP3):c.2855C>T (p.Thr952Met) rs139814109 0.00051
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580 0.00051
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) rs180975448 0.00051
NM_001355436.2(SPTB):c.6174G>A (p.Thr2058=) rs146561732 0.00051
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln) rs115887120 0.00051
NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp) rs104895452 0.00051
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu) rs34676691 0.00051
NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=) rs373977008 0.00051
NM_001379610.1(SPINK1):c.-22C>T rs190219062 0.00051
NM_001844.5(COL2A1):c.1176C>T (p.Arg392=) rs201575114 0.00051
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr) rs112467954 0.00051
NM_002667.5(PLN):c.27C>T (p.Arg9=) rs145623013 0.00051
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_006904.7(PRKDC):c.7204C>T (p.Leu2402Phe) rs374403400 0.00051
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412 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_019844.4(SLCO1B3):c.1857A>T (p.Val619=) rs143827641 0.00051
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val) rs56217500 0.00051
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092 0.00051
NM_000090.4(COL3A1):c.3777T>C (p.Ala1259=) rs34781844 0.00050
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_001005242.3(PKP2):c.1379-2109G>A rs139159464 0.00050
NM_001042492.3(NF1):c.7615+24del rs754290122 0.00050
NM_001142864.4(PIEZO1):c.4274G>A (p.Ser1425Asn) rs772788410 0.00050
NM_001167.4(XIAP):c.1408A>T (p.Thr470Ser) rs143165174 0.00050
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=) rs200825430 0.00050
NM_003239.5(TGFB3):c.517-16T>C rs3917176 0.00050
NM_005529.7(HSPG2):c.7337C>T (p.Ser2446Leu) rs146950983 0.00050
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400 0.00049
NM_000540.3(RYR1):c.9261C>T (p.Ile3087=) rs56338790 0.00049
NM_001148.6(ANK2):c.231G>A (p.Val77=) rs149699185 0.00049
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly) rs147946775 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_002230.4(JUP):c.1054+7A>T rs371988639 0.00049
NM_002529.4(NTRK1):c.1252-15C>G rs186649954 0.00049
NM_003126.4(SPTA1):c.4711T>G (p.Cys1571Gly) rs201601992 0.00049
NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys) rs201253322 0.00049
NM_004168.4(SDHA):c.723C>T (p.Asp241=) rs146653693 0.00049
NM_004239.4(TRIP11):c.4620T>C (p.Val1540=) rs72705400 0.00049
NM_004517.4(ILK):c.157T>A (p.Leu53Met) rs200336608 0.00049
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881 0.00049
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu) rs45487699 0.00049
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys) rs140154015 0.00049
NM_020297.4(ABCC9):c.4512+16C>T rs376147813 0.00049
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713 0.00049
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838 0.00048
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00048
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745 0.00048
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=) rs80359810 0.00048
NM_000098.3(CPT2):c.1598T>C (p.Val533Ala) rs144703247 0.00048
NM_000138.5(FBN1):c.5065+10A>G rs375945405 0.00048
NM_000142.5(FGFR3):c.1959+8C>T rs371666188 0.00048
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys) rs3729712 0.00048
NM_000402.4(G6PD):c.632A>T (p.Asp211Val) rs5030872 0.00048
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile) rs61749376 0.00048
NM_001035.3(RYR2):c.10231-4T>C rs117180147 0.00048
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_001039213.4(CEACAM16):c.781G>A (p.Glu261Lys) rs201188632 0.00048
NM_001114134.2(EPB42):c.1602G>A (p.Thr534=) rs149742998 0.00048
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) rs144245125 0.00048
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His) rs201512527 0.00048
NM_001355436.2(SPTB):c.3479G>A (p.Arg1160His) rs76283214 0.00048
NM_001355436.2(SPTB):c.4075C>T (p.Arg1359Trp) rs189656371 0.00048
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880 0.00048
NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu) rs150033906 0.00048
NM_003482.4(KMT2D):c.16599G>A (p.Arg5533=) rs199798179 0.00048
NM_004281.4(BAG3):c.855G>A (p.Thr285=) rs147259596 0.00048
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00048
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg) rs554853074 0.00048
NM_022489.4(INF2):c.1144A>G (p.Ser382Gly) rs201077878 0.00048
NM_170707.4(LMNA):c.789G>A (p.Leu263=) rs148557956 0.00048
NM_174936.4(PCSK9):c.1491C>T (p.Gly497=) rs147599496 0.00048
NM_000059.4(BRCA2):c.9411T>G (p.Thr3137=) rs1799968 0.00047
NM_000059.4(BRCA2):c.9649-19G>A rs11571830 0.00047
NM_000093.5(COL5A1):c.3906+20G>A rs148053413 0.00047
NM_001065.4(TNFRSF1A):c.987C>T (p.Leu329=) rs138261783 0.00047
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=) rs2303834 0.00047
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512 0.00047
NM_001395413.1(POR):c.633-5C>G rs72555509 0.00047
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_002834.5(PTPN11):c.1379+20C>T rs184743462 0.00047
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_006231.4(POLE):c.5659G>A (p.Val1887Met) rs114119067 0.00047
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe) rs189061214 0.00047
NM_024426.6(WT1):c.1131T>C (p.Pro377=) rs151034312 0.00047
NM_033380.3(COL4A5):c.1588-13T>G rs201708502 0.00047
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp) rs144783615 0.00047
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687 0.00046
NM_000162.5(GCK):c.46-5598A>T rs13306393 0.00046
NM_000393.5(COL5A2):c.1456-20T>C rs150724439 0.00046
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665 0.00046
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00046
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322 0.00046
NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=) rs372265042 0.00046
NM_001114753.3(ENG):c.1455G>A (p.Glu485=) rs150456852 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.66391A>G (p.Thr22131Ala) rs140842479 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_001844.5(COL2A1):c.4074+12G>T rs201312340 0.00046
NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=) rs137948104 0.00046
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln) rs147158850 0.00046
NM_002474.3(MYH11):c.3816G>A (p.Glu1272=) rs112990531 0.00046
NM_003036.4(SKI):c.1734C>T (p.Ser578=) rs117443908 0.00046
NM_003322.6(TULP1):c.823-4A>G rs200264819 0.00046
NM_006363.6(SEC23B):c.1665+6T>C rs371786580 0.00046
NM_006939.4(SOS2):c.1071A>G (p.Gln357=) rs111961549 0.00046
NM_007272.3(CTRC):c.231-14C>T rs374364850 0.00046
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892 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_000053.4(ATP7B):c.2544C>T (p.Gly848=) rs200996053 0.00045
NM_000059.4(BRCA2):c.5879G>A (p.Cys1960Tyr) rs56157628 0.00045
NM_000059.4(BRCA2):c.7976+12G>A rs81002827 0.00045
NM_000108.5(DLD):c.100A>G (p.Thr34Ala) rs138002793 0.00045
NM_000138.5(FBN1):c.5296+14G>A rs140650 0.00045
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 0.00045
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_001048174.2(MUTYH):c.914-9C>T rs3219488 0.00045
NM_001142864.4(PIEZO1):c.6804G>A (p.Ala2268=) rs371847339 0.00045
NM_001243133.2(NLRP3):c.1245C>T (p.Ile415=) rs139852370 0.00045
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=) rs200149062 0.00045
NM_001267550.2(TTN):c.10922T>C (p.Ile3641Thr) rs141027782 0.00045
NM_001355436.2(SPTB):c.5942G>A (p.Arg1981His) rs146513976 0.00045
NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=) rs149862905 0.00045
NM_002691.4(POLD1):c.653G>A (p.Arg218His) rs150010804 0.00045
NM_003126.4(SPTA1):c.3742C>T (p.Arg1248Trp) rs200714808 0.00045
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_004360.5(CDH1):c.1744C>T (p.Leu582=) rs1801025 0.00045
NM_016204.4(GDF2):c.871G>A (p.Gly291Ser) rs201711410 0.00045
NM_016239.4(MYO15A):c.858C>G (p.Pro286=) rs200424851 0.00045
NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn) rs72650720 0.00045
NM_053025.4(MYLK):c.999G>A (p.Pro333=) rs13319347 0.00045
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_000342.4(SLC4A1):c.457C>A (p.Leu153Met) rs145041032 0.00044
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) rs200696965 0.00044
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494 0.00044
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043 0.00044
NM_001114134.2(EPB42):c.581G>A (p.Arg194His) rs146348439 0.00044
NM_001199397.3(NEK1):c.3193A>G (p.Thr1065Ala) rs371084271 0.00044
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00044
NM_004004.6(GJB2):c.-22-6T>C rs141962118 0.00044
NM_004006.3(DMD):c.5586+9G>A rs200025478 0.00044
NM_014208.3(DSPP):c.2455G>A (p.Asp819Asn) rs371825362 0.00044
NM_024334.3(TMEM43):c.279C>T (p.Gly93=) rs149883381 0.00044
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser) rs35116188 0.00044
NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter) rs104895564 0.00044
NM_000141.5(FGFR2):c.34G>A (p.Val12Met) rs143978938 0.00043
NM_000335.5(SCN5A):c.1479G>A (p.Arg493=) rs138870926 0.00043
NM_000435.3(NOTCH3):c.2411-11C>A rs201130717 0.00043
NM_000548.5(TSC2):c.3610+6G>A rs45517301 0.00043
NM_001235.5(SERPINH1):c.97G>C (p.Ala33Pro) rs150061926 0.00043
NM_001267550.2(TTN):c.34856-17A>G rs188686309 0.00043
NM_001457.4(FLNB):c.1196A>G (p.Lys399Arg) rs145673747 0.00043
NM_001457.4(FLNB):c.4058C>G (p.Thr1353Ser) rs142718547 0.00043
NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys) rs145752649 0.00043
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_004304.5(ALK):c.3057C>A (p.Val1019=) rs138406372 0.00043
NM_014365.3(HSPB8):c.432-16C>T rs183447670 0.00043
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser) rs172149856 0.00043
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu) rs140382957 0.00043
NM_175914.5(HNF4A):c.138G>A (p.Thr46=) rs145845882 0.00043
NM_000138.5(FBN1):c.2148A>G (p.Gly716=) rs141039922 0.00042
NM_000548.5(TSC2):c.3610+9C>T rs45467194 0.00042
NM_000891.3(KCNJ2):c.1200G>A (p.Thr400=) rs201253055 0.00042
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser) rs141069645 0.00042
NM_001114753.3(ENG):c.687C>T (p.Ala229=) rs376919650 0.00042
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys) rs144076460 0.00042
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108 0.00042
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) rs188185141 0.00042
NM_001999.4(FBN2):c.7012+7G>A rs199735209 0.00042
NM_153676.4(USH1C):c.1430G>A (p.Arg477Gln) rs146333270 0.00042
NR_003051.4(RMRP):n.141A>G rs578091934 0.00042
NM_000037.4(ANK1):c.4156T>C (p.Tyr1386His) rs201439151 0.00041
NM_000053.4(ATP7B):c.1687G>A (p.Asp563Asn) rs199875471 0.00041
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_000144.5(FXN):c.118C>T (p.Arg40Cys) rs145854903 0.00041
NM_000298.6(PKLR):c.1435C>T (p.Arg479Cys) rs201406712 0.00041
NM_000337.6(SGCD):c.543T>G (p.Pro181=) rs200451694 0.00041
NM_000435.3(NOTCH3):c.3629G>A (p.Arg1210His) rs35031555 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_000548.5(TSC2):c.138+20C>G rs45517092 0.00041
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_001110792.2(MECP2):c.870C>T (p.Ala290=) rs61750248 0.00041
NM_001142864.4(PIEZO1):c.3434T>C (p.Val1145Ala) rs550993341 0.00041
NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln) rs370390570 0.00041
NM_001267550.2(TTN):c.79863G>A (p.Thr26621=) rs186402008 0.00041
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys) rs72648278 0.00041
NM_001355436.2(SPTB):c.1303G>C (p.Glu435Gln) rs149521594 0.00041
NM_001370466.1(NOD2):c.1693G>A (p.Val565Met) rs148683734 0.00041
NM_001371279.1(REEP1):c.844G>A (p.Glu282Lys) rs189652973 0.00041
NM_001374353.1(GLI2):c.3672G>A (p.Met1224Ile) rs138191075 0.00041
NM_001395413.1(POR):c.1227C>T (p.Ser409=) rs41301424 0.00041
NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg) rs147346327 0.00041
NM_003978.5(PSTPIP1):c.203C>T (p.Thr68Met) rs201872851 0.00041
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_005428.4(VAV1):c.2161A>T (p.Met721Leu) rs149330066 0.00041
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr) rs138962786 0.00041
NM_021625.5(TRPV4):c.1491+10C>T rs201815805 0.00041
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg) rs200273207 0.00041
NM_144687.4(NLRP12):c.2927+11G>A rs376043494 0.00041
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=) rs144418713 0.00041
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575 0.00040
NM_000059.4(BRCA2):c.6842-20T>A rs81002811 0.00040
NM_000065.5(C6):c.186A>C (p.Glu62Asp) rs200359838 0.00040
NM_000089.4(COL1A2):c.1008C>T (p.Ala336=) rs138357977 0.00040
NM_000093.5(COL5A1):c.126C>T (p.Leu42=) rs149369116 0.00040
NM_000298.6(PKLR):c.92C>T (p.Ala31Val) rs150077703 0.00040
NM_000321.3(RB1):c.411A>T (p.Glu137Asp) rs3092902 0.00040
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00040
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_000517.6(HBA2):c.95+39C>G rs1025977498 0.00040
NM_001003800.2(BICD2):c.1893C>T (p.Ile631=) rs141414055 0.00040
NM_001114753.3(ENG):c.-9G>A rs368423516 0.00040
NM_004006.3(DMD):c.2490C>T (p.Asn830=) rs72468679 0.00040
NM_004281.4(BAG3):c.888C>T (p.His296=) rs139399890 0.00040
NM_005529.7(HSPG2):c.4396-5C>T rs117917442 0.00040
NM_006363.6(SEC23B):c.519G>A (p.Val173=) rs138314893 0.00040
NM_022124.6(CDH23):c.2128A>G (p.Ile710Val) rs367750869 0.00040
NM_053025.4(MYLK):c.3653-10_3653-8del rs576620371 0.00040
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00039
NM_000037.4(ANK1):c.2167C>A (p.His723Asn) rs150899388 0.00039
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806 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_000535.7(PMS2):c.1560G>A (p.Ala520=) rs201167814 0.00039
NM_001009944.3(PKD1):c.6606G>A (p.Ala2202=) rs367600795 0.00039
NM_001243133.2(NLRP3):c.1032G>A (p.Leu344=) rs180177471 0.00039
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe) rs72648943 0.00039
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=) rs367622770 0.00039
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475 0.00039
NM_001876.4(CPT1A):c.336C>T (p.Thr112=) rs61731902 0.00039
NM_003126.4(SPTA1):c.2608G>A (p.Val870Met) rs140291959 0.00039
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) rs56105708 0.00039
NM_003242.6(TGFBR2):c.94+16202A>G rs375610471 0.00039
NM_003244.4(TGIF1):c.723G>A (p.Pro241=) rs114912664 0.00039
NM_004006.3(DMD):c.6828C>T (p.Pro2276=) rs72466595 0.00039
NM_014874.4(MFN2):c.1827C>T (p.Ser609=) rs138724074 0.00039
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser) rs148174226 0.00039
NM_020975.6(RET):c.2037C>T (p.Pro679=) rs55862116 0.00039
NM_000051.4(ATM):c.6795C>T (p.Phe2265=) rs3218699 0.00038
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_000071.3(CBS):c.394C>T (p.Arg132Cys) rs140002610 0.00038
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591 0.00038
NM_000218.3(KCNQ1):c.1860C>T (p.His620=) rs139893266 0.00038
NM_000251.3(MSH2):c.1511-41G>C rs202215396 0.00038
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808 0.00038
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_001032283.3(TMPO):c.565+1105C>T rs138790561 0.00038
NM_001035.3(RYR2):c.11246-11del rs397516503 0.00038
NM_001035.3(RYR2):c.11496C>T (p.Asp3832=) rs397516505 0.00038
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869 0.00038
NM_001142864.4(PIEZO1):c.1112T>G (p.Val371Gly) rs191302762 0.00038
NM_001159702.3(FHL1):c.-26-9547G>A rs192893870 0.00038
NM_001244008.2(KIF1A):c.2813G>A (p.Arg938Gln) rs192102667 0.00038
NM_001375808.2(LPIN2):c.446C>T (p.Pro149Leu) rs147615538 0.00038
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324 0.00038
NM_002972.4(SBF1):c.142-3C>T rs191369963 0.00038
NM_005184.4(CALM3):c.183C>T (p.Asn61=) rs3729761 0.00038
NM_006031.6(PCNT):c.7259C>T (p.Pro2420Leu) rs144633170 0.00038
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_016204.4(GDF2):c.917G>A (p.Gly306Asp) rs145635235 0.00038
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) rs147407445 0.00038
NM_000098.3(CPT2):c.1602G>A (p.Glu534=) rs148110518 0.00037
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=) rs147091980 0.00037
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_001042492.3(NF1):c.731-6A>C rs369366499 0.00037
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940 0.00037
NM_002296.4(LBR):c.927C>T (p.Ile309=) rs143164834 0.00037
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser) rs140825795 0.00037
NM_003126.4(SPTA1):c.1351-4A>G rs200868774 0.00037
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504 0.00037
NM_032578.4(MYPN):c.1662A>C (p.Ala554=) rs71584488 0.00037
NM_000051.4(ATM):c.6808-22C>A rs3218700 0.00036
NM_000435.3(NOTCH3):c.1194C>T (p.Gly398=) rs140368657 0.00036
NM_000435.3(NOTCH3):c.3658C>T (p.Arg1220Trp) rs115872852 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_000719.7(CACNA1C):c.5639G>A (p.Arg1880Gln) rs182208896 0.00036
NM_001009944.3(PKD1):c.3495C>T (p.Asp1165=) rs375384742 0.00036
NM_001065.4(TNFRSF1A):c.369C>T (p.Thr123=) rs104895260 0.00036
NM_001134363.3(RBM20):c.2887A>G (p.Lys963Glu) rs371951525 0.00036
NM_001142864.4(PIEZO1):c.2590G>A (p.Val864Ile) rs565096713 0.00036
NM_001142864.4(PIEZO1):c.4252T>C (p.Tyr1418His) rs147153006 0.00036
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His) rs149755500 0.00036
NM_001355436.2(SPTB):c.4001C>T (p.Ala1334Val) rs113139501 0.00036
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met) rs145611185 0.00036
NM_002474.3(MYH11):c.471C>T (p.Ile157=) rs140267000 0.00036
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp) rs117671123 0.00036
NM_004444.5(EPHB4):c.1384G>A (p.Gly462Arg) rs146674844 0.00036
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser) rs141259922 0.00036
NM_005026.5(PIK3CD):c.2094C>T (p.Phe698=) rs370548772 0.00036
NM_007078.3(LDB3):c.1594G>C (p.Ala532Pro) rs143764931 0.00036
NM_007078.3(LDB3):c.664G>A (p.Ala222Thr) rs139922045 0.00036
NM_014236.4(GNPAT):c.1095T>C (p.Phe365=) rs139272614 0.00036
NM_015046.7(SETX):c.5283A>G (p.Gln1761=) rs139063885 0.00036
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val) rs115976458 0.00036
NM_024334.3(TMEM43):c.777C>T (p.His259=) rs143958148 0.00036
NM_024753.5(TTC21B):c.2815C>T (p.Arg939Trp) rs151227843 0.00036
NM_194248.3(OTOF):c.5292-9C>T rs372713647 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049 0.00035
NM_000071.3(CBS):c.1223+13G>A rs533660793 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_000243.3(MEFV):c.1260+10C>T rs104895137 0.00035
NM_000243.3(MEFV):c.372C>T (p.Pro124=) rs104895078 0.00035
NM_000435.3(NOTCH3):c.5200-4C>A rs375036447 0.00035
NM_000455.5(STK11):c.1284G>A (p.Ser428=) rs369097329 0.00035
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) rs1135071 0.00035
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr) rs200001206 0.00035
NM_001267550.2(TTN):c.96016G>A (p.Val32006Met) rs191786700 0.00035
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416 0.00035
NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr) rs139965373 0.00035
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) rs377217445 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_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu) rs201388114 0.00035
NM_139125.4(MASP1):c.910C>A (p.Leu304Ile) rs145057248 0.00035
NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln) rs34153370 0.00034
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000138.5(FBN1):c.5964C>T (p.Thr1988=) rs113022801 0.00034
NM_000178.4(GSS):c.631C>G (p.Gln211Glu) rs370351723 0.00034
NM_000243.3(MEFV):c.2292G>T (p.Gly764=) rs142352887 0.00034
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00034
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182 0.00034
NM_000335.5(SCN5A):c.5709G>A (p.Ser1903=) rs376826051 0.00034
NM_000431.4(MVK):c.371+13T>C rs201201471 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_000540.3(RYR1):c.10938-9C>T rs201976186 0.00034
NM_001034853.2(RPGR):c.141T>G (p.Ser47=) rs62638631 0.00034
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) rs61751446 0.00034
NM_001114753.3(ENG):c.1447G>A (p.Val483Ile) rs141330288 0.00034
NM_001145809.2(MYH14):c.2233-13C>A rs368249273 0.00034
NM_001267550.2(TTN):c.55449C>T (p.Pro18483=) rs187366691 0.00034
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr) rs138437526 0.00034
NM_001355436.2(SPTB):c.96T>C (p.Asn32=) rs141340359 0.00034
NM_001457.4(FLNB):c.6515G>A (p.Arg2172His) rs139846706 0.00034
NM_001999.4(FBN2):c.6666G>A (p.Pro2222=) rs192923239 0.00034
NM_002769.5(PRSS1):c.121C>T (p.Leu41=) rs369646357 0.00034
NM_003680.4(YARS1):c.1008G>A (p.Leu336=) rs140232925 0.00034
NM_003978.5(PSTPIP1):c.418-6C>A rs200018722 0.00034
NM_004444.5(EPHB4):c.1017G>T (p.Leu339=) rs55867842 0.00034
NM_004984.4(KIF5A):c.471C>T (p.His157=) rs143178113 0.00034
NM_005340.7(HINT1):c.111+6_111+7insC rs770851222 0.00034
NM_006446.5(SLCO1B1):c.1331+9A>G rs76647672 0.00034
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877 0.00034
NM_017668.3(NDE1):c.948-2788A>G rs118072250 0.00034
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) rs41272437 0.00034
NM_022489.4(INF2):c.37G>A (p.Ala13Thr) rs201383094 0.00034
NM_025132.4(WDR19):c.3249T>C (p.Asp1083=) rs371128500 0.00034
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571 0.00034
NM_032043.3(BRIP1):c.380-17T>A rs200050729 0.00034
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys) rs186197620 0.00034
NM_182943.3(PLOD2):c.2121+14T>C rs376009508 0.00034
NM_203486.3(DLL3):c.677C>G (p.Pro226Arg) rs145191532 0.00034
NM_000037.4(ANK1):c.3668T>C (p.Val1223Ala) rs185516533 0.00033
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=) rs139869965 0.00033
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=) rs375821223 0.00033
NM_001999.4(FBN2):c.4983C>T (p.Cys1661=) rs143907156 0.00033
NM_014000.3(VCL):c.492T>G (p.Leu164=) rs143702799 0.00033
NM_030777.4(SLC2A10):c.1289-6C>T rs199967429 0.00033
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759 0.00032
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701 0.00032
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907 0.00032
NM_000243.3(MEFV):c.926C>T (p.Thr309Met) rs104895155 0.00032
NM_000264.5(PTCH1):c.1913G>A (p.Arg638His) rs145766839 0.00032
NM_000441.2(SLC26A4):c.1614+8C>T rs370184422 0.00032
NM_001110556.2(FLNA):c.1716C>T (p.Thr572=) rs201550267 0.00032
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) rs72648990 0.00032
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala) rs201381085 0.00032
NM_001457.4(FLNB):c.4061+4G>A rs370061963 0.00032
NM_001999.4(FBN2):c.339G>A (p.Pro113=) rs144540627 0.00032
NM_002769.5(PRSS1):c.417C>T (p.Cys139=) rs141847266 0.00032
NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln) rs202243588 0.00032
NM_005422.4(TECTA):c.5836T>C (p.Tyr1946His) rs144343770 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_007272.3(CTRC):c.110G>A (p.Arg37Gln) rs145868278 0.00032
NM_016247.4(IMPG2):c.1223C>T (p.Thr408Met) rs148056371 0.00032
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln) rs141586001 0.00032
NM_000038.6(APC):c.4905G>A (p.Gly1635=) rs137988845 0.00031
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008 0.00031
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_000342.4(SLC4A1):c.486-18C>T rs201023917 0.00031
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000435.3(NOTCH3):c.6632A>G (p.Tyr2211Cys) rs369813654 0.00031
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) rs374524755 0.00031
NM_001035.3(RYR2):c.774-14G>T rs370114411 0.00031
NM_001110556.2(FLNA):c.1691+7C>A rs199565118 0.00031
NM_001134363.3(RBM20):c.1057G>A (p.Glu353Lys) rs554690506 0.00031
NM_001148.6(ANK2):c.7488A>G (p.Thr2496=) rs143161930 0.00031
NM_001243133.2(NLRP3):c.208G>A (p.Val70Met) rs117287351 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.78855T>C (p.Asp26285=) rs139953862 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_001267550.2(TTN):c.9487C>T (p.Arg3163Cys) rs140664731 0.00031
NM_001276345.2(TNNT2):c.720-13_720-11del rs397516480 0.00031
NM_001844.5(COL2A1):c.3327+3G>A rs192229438 0.00031
NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser) rs113696032 0.00031
NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val) rs142654744 0.00031
NM_003482.4(KMT2D):c.12889T>C (p.Ser4297Pro) rs370243498 0.00031
NM_004086.3(COCH):c.272G>A (p.Arg91Gln) rs188283330 0.00031
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_014000.3(VCL):c.1626C>T (p.Leu542=) rs150402791 0.00031
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser) rs140271276 0.00031
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=) rs374320445 0.00031
NM_017636.4(TRPM4):c.1242T>C (p.Phe414=) rs200633475 0.00031
NM_020297.4(ABCC9):c.3339T>G (p.Ser1113=) rs138280089 0.00031
NM_020975.6(RET):c.1050C>T (p.Thr350=) rs142188675 0.00031
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_032119.4(ADGRV1):c.596G>T (p.Ser199Ile) rs61745496 0.00031
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp) rs145278250 0.00031
NM_000093.5(COL5A1):c.3906+10C>T rs183881247 0.00030
NM_000368.5(TSC1):c.1977G>A (p.Ala659=) rs35958226 0.00030
NM_000558.3(HBA1):c.154G>A (p.Gly52Ser) rs33960522 0.00030
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122 0.00030
NM_001110556.2(FLNA):c.861C>T (p.Tyr287=) rs375503410 0.00030
NM_001142864.4(PIEZO1):c.7471C>T (p.Arg2491Trp) rs201746476 0.00030
NM_002691.4(POLD1):c.714G>A (p.Thr238=) rs149096523 0.00030
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_015340.4(LARS2):c.1622+8G>A rs202009605 0.00030
NM_153676.4(USH1C):c.1858C>T (p.Arg620Cys) rs143160805 0.00030
NM_000018.4(ACADVL):c.1678+15C>T rs371402802 0.00029
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958 0.00029
NM_000088.4(COL1A1):c.1983+9G>C rs201091992 0.00029
NM_000238.4(KCNH2):c.2454G>A (p.Ser818=) rs72549418 0.00029
NM_000238.4(KCNH2):c.3063C>T (p.Ser1021=) rs199767579 0.00029
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714 0.00029
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=) rs1800121 0.00029
NM_000518.5(HBB):c.324C>T (p.Gly108=) rs193922562 0.00029
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=) rs116392938 0.00029
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386 0.00029
NM_000719.7(CACNA1C):c.2460+6G>A rs369246066 0.00029
NM_001018005.2(TPM1):c.375-5T>C rs377061868 0.00029
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile) rs147205617 0.00029
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635 0.00029
NM_001134363.3(RBM20):c.567G>T (p.Gln189His) rs377623370 0.00029
NM_001142864.4(PIEZO1):c.5647C>T (p.Arg1883Trp) rs200031013 0.00029
NM_001243133.2(NLRP3):c.1401C>T (p.Leu467=) rs141637807 0.00029
NM_001267550.2(TTN):c.49944G>A (p.Lys16648=) rs190021597 0.00029
NM_001267550.2(TTN):c.52008C>G (p.Val17336=) rs144507270 0.00029
NM_001365951.3(KIF1B):c.2115+7081C>T rs376558549 0.00029
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922 0.00029
NM_002471.4(MYH6):c.4293G>A (p.Met1431Ile) rs201016285 0.00029
NM_002471.4(MYH6):c.831G>T (p.Gln277His) rs140660481 0.00029
NM_002474.3(MYH11):c.1502G>A (p.Arg501His) rs144244239 0.00029
NM_002529.4(NTRK1):c.1068C>T (p.Asn356=) rs145823996 0.00029
NM_002755.4(MAP2K1):c.848C>T (p.Ala283Val) rs144080051 0.00029
NM_004082.5(DCTN1):c.2805C>G (p.Ile935Met) rs145130328 0.00029
NM_004304.5(ALK):c.3102G>A (p.Ser1034=) rs138771319 0.00029
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr) rs148028521 0.00029
NM_006031.6(PCNT):c.4222C>T (p.Arg1408Trp) rs202161810 0.00029
NM_007078.3(LDB3):c.1035C>T (p.Ile345=) rs121908336 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_020297.4(ABCC9):c.1557G>A (p.Glu519=) rs143346402 0.00029
NM_020297.4(ABCC9):c.2262T>C (p.Tyr754=) rs145561881 0.00029
NM_020433.5(JPH2):c.648G>A (p.Lys216=) rs796219248 0.00029
NM_021625.5(TRPV4):c.1464C>T (p.Thr488=) rs146841400 0.00029
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=) rs375633647 0.00029
NM_053025.4(MYLK):c.2125G>A (p.Val709Met) rs112537316 0.00029
NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg) rs199738750 0.00029
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser) rs141140415 0.00029
NM_000038.6(APC):c.2593C>T (p.Pro865Ser) rs192620988 0.00028
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995 0.00028
NM_000047.3(ARSL):c.220G>A (p.Val74Met) rs150756612 0.00028
NM_000059.4(BRCA2):c.425+33A>G rs200065709 0.00028
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile) rs140537304 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000435.3(NOTCH3):c.3523C>T (p.Arg1175Trp) rs200504060 0.00028
NM_001035.3(RYR2):c.10231-5C>T rs186326951 0.00028
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_001128228.3(TPRN):c.1094A>G (p.Gln365Arg) rs780953179 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.4359A>T (p.Arg1453Ser) rs376857956 0.00028
NM_001365088.1(SLC12A6):c.2106T>C (p.Tyr702=) rs145775351 0.00028
NM_001365951.3(KIF1B):c.2115+6313G>A rs374263753 0.00028
NM_002474.3(MYH11):c.2075C>T (p.Ala692Val) rs148893135 0.00028
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590 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_007294.4(BRCA1):c.548-17G>T rs80358014 0.00028
NM_053025.4(MYLK):c.5114+8G>A rs202229368 0.00028
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_000518.5(HBB):c.316-19T>A rs191535077 0.00027
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=) rs45517307 0.00027
NM_000719.7(CACNA1C):c.846C>T (p.Tyr282=) rs200847105 0.00027
NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=) rs147894075 0.00027
NM_001114753.3(ENG):c.1533G>A (p.Ala511=) rs140760635 0.00027
NM_001145809.2(MYH14):c.820A>G (p.Ile274Val) rs200424400 0.00027
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr) rs202012910 0.00027
NM_001985.3(ETFB):c.709G>A (p.Val237Ile) rs149129214 0.00027
NM_003978.5(PSTPIP1):c.882G>A (p.Pro294=) rs200796501 0.00027
NM_004360.5(CDH1):c.303C>T (p.Tyr101=) rs150789339 0.00027
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688 0.00027
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn) rs148993589 0.00026
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000059.4(BRCA2):c.2208A>G (p.Ala736=) rs144984153 0.00026
NM_000059.4(BRCA2):c.2412A>G (p.Glu804=) rs587780866 0.00026
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 0.00026
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=) rs28897730 0.00026
NM_000059.4(BRCA2):c.516+14C>T rs182828913 0.00026
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00026
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521 0.00026
NM_000088.4(COL1A1):c.2115C>T (p.Asn705=) rs41316673 0.00026
NM_000297.4(PKD2):c.595+15C>T rs559555727 0.00026
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501 0.00026
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr) rs141723617 0.00026
NM_000527.5(LDLR):c.1056C>T (p.Cys352=) rs13306515 0.00026
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328 0.00026
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn) rs150613209 0.00026
NM_001009944.3(PKD1):c.5648C>T (p.Ala1883Val) rs779745348 0.00026
NM_001042492.3(NF1):c.7554C>G (p.Ala2518=) rs141897690 0.00026
NM_001103.4(ACTN2):c.1406+8C>T rs397516567 0.00026
NM_001127222.2(CACNA1A):c.1905C>T (p.Phe635=) rs115452236 0.00026
NM_001142864.4(PIEZO1):c.5988A>G (p.Ser1996=) rs370710857 0.00026
NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val) rs199804623 0.00026
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=) rs184307461 0.00026
NM_001267550.2(TTN):c.25809G>A (p.Ser8603=) rs369099681 0.00026
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys) rs199557654 0.00026
NM_001267550.2(TTN):c.34845C>T (p.Pro11615=) rs368781863 0.00026
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln) rs199640194 0.00026
NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro) rs372541479 0.00026
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met) rs368867993 0.00026
NM_001267550.2(TTN):c.90382A>T (p.Thr30128Ser) rs183939928 0.00026
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_001985.3(ETFB):c.278C>T (p.Pro93Leu) rs139519507 0.00026
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser) rs185661462 0.00026
NM_003126.4(SPTA1):c.4240C>T (p.Arg1414Cys) rs201399968 0.00026
NM_003978.5(PSTPIP1):c.1208G>A (p.Gly403Glu) rs201572812 0.00026
NM_004006.3(DMD):c.1252A>T (p.Thr418Ser) rs201341211 0.00026
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719 0.00026
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr) rs45577134 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile) rs139932041 0.00026
NM_053025.4(MYLK):c.1609G>A (p.Val537Ile) rs199988497 0.00026
NM_213655.5(WNK1):c.2939G>T (p.Ser980Ile) rs372091476 0.00026
NM_000037.4(ANK1):c.447G>T (p.Ala149=) rs140550365 0.00025
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972 0.00025
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) rs80358674 0.00025
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His) rs76784312 0.00025
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 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_001134363.3(RBM20):c.850G>A (p.Gly284Arg) rs201148126 0.00025
NM_001142864.4(PIEZO1):c.5627G>A (p.Arg1876Lys) rs201967733 0.00025
NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met) rs199796249 0.00025
NM_001267550.2(TTN):c.46928A>G (p.His15643Arg) rs368502650 0.00025
NM_001355436.2(SPTB):c.982C>T (p.Arg328Cys) rs143293179 0.00025
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602 0.00025
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg) rs373264436 0.00025
NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser) rs201676898 0.00025
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn) rs397507456 0.00025
NM_004655.4(AXIN2):c.1059+8C>T rs367595502 0.00025
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_005609.4(PYGM):c.612C>T (p.Tyr204=) rs200467937 0.00025
NM_032119.4(ADGRV1):c.7468G>A (p.Ala2490Thr) rs143632883 0.00025
NM_000089.4(COL1A2):c.945C>T (p.Pro315=) rs147058179 0.00024
NM_000093.5(COL5A1):c.4393-19C>T rs186732287 0.00024
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly) rs199473113 0.00024
NM_000342.4(SLC4A1):c.337G>A (p.Val113Ile) rs142757938 0.00024
NM_000384.3(APOB):c.8550T>G (p.Ile2850Met) rs148498577 0.00024
NM_000399.5(EGR2):c.174C>T (p.Gly58=) rs143793213 0.00024
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014 0.00024
NM_000518.5(HBB):c.316-45G>C rs140033163 0.00024
NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe) rs375818733 0.00024
NM_001142864.4(PIEZO1):c.6154G>A (p.Val2052Ile) rs564395221 0.00024
NM_001145809.2(MYH14):c.3871G>T (p.Val1291Leu) rs202242879 0.00024
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=) rs370479059 0.00024
NM_001365951.3(KIF1B):c.1771G>A (p.Gly591Arg) rs145266399 0.00024
NM_001395413.1(POR):c.1806+8G>A rs72557952 0.00024
NM_001457.4(FLNB):c.3594G>A (p.Thr1198=) rs143566075 0.00024
NM_001844.5(COL2A1):c.1581+16G>A rs182598943 0.00024
NM_001854.4(COL11A1):c.898-15T>C rs200242905 0.00024
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser) rs192443850 0.00024
NM_002769.5(PRSS1):c.410C>T (p.Thr137Met) rs117497341 0.00024
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00024
NM_003680.4(YARS1):c.60G>A (p.Glu20=) rs143712443 0.00024
NM_004006.3(DMD):c.9165G>A (p.Thr3055=) rs137905486 0.00024
NM_005422.4(TECTA):c.1461A>G (p.Gly487=) rs202127508 0.00024
NM_005529.7(HSPG2):c.9060G>A (p.Arg3020=) rs372508479 0.00024
NM_007272.3(CTRC):c.703G>A (p.Val235Ile) rs140993290 0.00024
NM_007294.4(BRCA1):c.4358-10C>T rs80358111 0.00024
NM_016204.4(GDF2):c.221G>A (p.Gly74Glu) rs151296940 0.00024
NM_020975.6(RET):c.2088G>A (p.Ser696=) rs150329150 0.00024
NM_022787.4(NMNAT1):c.764G>A (p.Ser255Asn) rs138626416 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_133459.4(CCBE1):c.966G>A (p.Ala322=) rs144169027 0.00024
NM_178335.3(CCDC50):c.1144G>A (p.Ala382Thr) rs143628723 0.00024
NM_000037.4(ANK1):c.3298G>A (p.Val1100Ile) rs147741842 0.00023
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_000090.4(COL3A1):c.1815+5G>A rs146652498 0.00023
NM_000179.3(MSH6):c.3438+11_3438+14del rs377746844 0.00023
NM_000342.4(SLC4A1):c.798T>C (p.Phe266=) rs193011645 0.00023
NM_000431.4(MVK):c.1128C>T (p.Gly376=) rs147662789 0.00023
NM_000459.5(TEK):c.365-19G>A rs371486685 0.00023
NM_000719.7(CACNA1C):c.5478G>A (p.Ala1826=) rs200283756 0.00023
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788 0.00023
NM_001130823.3(DNMT1):c.2693C>T (p.Thr898Ile) rs201213597 0.00023
NM_001130823.3(DNMT1):c.575C>T (p.Ala192Val) rs62621089 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_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=) rs138571942 0.00023
NM_003239.5(TGFB3):c.647-12C>G rs61762490 0.00023
NM_004006.3(DMD):c.2386G>A (p.Val796Ile) rs139726281 0.00023
NM_004006.3(DMD):c.696C>G (p.Ile232Met) rs145668843 0.00023
NM_005529.7(HSPG2):c.4971C>T (p.Tyr1657=) rs138459752 0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_021939.4(FKBP10):c.850G>A (p.Gly284Arg) rs372214186 0.00023
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895 0.00023
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly) rs144095826 0.00023
NM_053025.4(MYLK):c.4184T>C (p.Leu1395Pro) rs146576868 0.00023
NM_144573.4(NEXN):c.1029G>A (p.Ala343=) rs374260457 0.00023
NM_000052.7(ATP7A):c.177A>G (p.Pro59=) rs142463642 0.00022
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly) rs68071147 0.00022
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000238.4(KCNH2):c.2941A>G (p.Ser981Gly) rs76649554 0.00022
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375 0.00022
NM_000243.3(MEFV):c.1760-28T>A rs104895169 0.00022
NM_000256.3(MYBPC3):c.3228C>T (p.Asp1076=) rs369999866 0.00022
NM_000435.3(NOTCH3):c.340+14A>G rs202136001 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_000518.5(HBB):c.246C>A (p.Leu82=) rs145669504 0.00022
NM_000518.5(HBB):c.294C>T (p.His98=) rs34515413 0.00022
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201 0.00022
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398 0.00022
NM_001009944.3(PKD1):c.8162-12G>A rs375993328 0.00022
NM_001148.6(ANK2):c.10531C>T (p.Leu3511=) rs148462839 0.00022
NM_001267550.2(TTN):c.107377+14C>T rs367908657 0.00022
NM_001267550.2(TTN):c.27625A>G (p.Lys9209Glu) rs148355969 0.00022
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu) rs189030321 0.00022
NM_001498.4(GCLC):c.1091A>G (p.Asp364Gly) rs151321990 0.00022
NM_001999.4(FBN2):c.5917+9T>G rs371439173 0.00022
NM_001999.4(FBN2):c.6840G>T (p.Pro2280=) rs377742525 0.00022
NM_001999.4(FBN2):c.7013-7T>A rs191729449 0.00022
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_004006.3(DMD):c.3951G>A (p.Glu1317=) rs199643655 0.00022
NM_004360.5(CDH1):c.33G>C (p.Leu11=) rs730881654 0.00022
NM_006231.4(POLE):c.672C>T (p.Tyr224=) rs376923206 0.00022
NM_017668.3(NDE1):c.948-3127C>T rs181115969 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_022489.4(INF2):c.3563C>T (p.Ser1188Phe) rs201715539 0.00022
NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys) rs182452385 0.00022
NM_053025.4(MYLK):c.5121C>T (p.Arg1707=) rs144436556 0.00022
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907 0.00022
NM_000037.4(ANK1):c.499G>C (p.Gly167Arg) rs201024919 0.00021
NM_000047.3(ARSL):c.102C>T (p.Ser34=) rs151070930 0.00021
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000059.4(BRCA2):c.8154T>C (p.Ile2718=) rs148880015 0.00021
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=) rs150940930 0.00021
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) rs146726731 0.00021
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr) rs41298759 0.00021
NM_000518.5(HBB):c.315+70G>C rs373152208 0.00021
NM_000557.5(GDF5):c.979C>G (p.Leu327Val) rs181772082 0.00021
NM_001009944.3(PKD1):c.288-20G>A rs572319823 0.00021
NM_001010892.3(RSPH4A):c.930C>T (p.Asn310=) rs180881714 0.00021
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582 0.00021
NM_001040716.2(PC):c.1446C>T (p.Asp482=) rs145891535 0.00021
NM_001042492.3(NF1):c.5269-9A>G rs544515671 0.00021
NM_001142864.4(PIEZO1):c.1051C>T (p.Arg351Trp) rs959344565 0.00021
NM_001242896.3(DEPDC5):c.2672G>C (p.Ser891Thr) rs185576553 0.00021
NM_001244008.2(KIF1A):c.5155G>A (p.Val1719Met) rs200511467 0.00021
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys) rs201035457 0.00021
NM_001267550.2(TTN):c.88984G>A (p.Gly29662Ser) rs187460377 0.00021
NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys) rs145293873 0.00021
NM_001375808.2(LPIN2):c.2445T>C (p.Asp815=) rs140249737 0.00021
NM_001457.4(FLNB):c.3898+19G>A rs780062399 0.00021
NM_001458.5(FLNC):c.7499G>A (p.Ser2500Asn) rs371244800 0.00021
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515 0.00021
NM_002047.4(GARS1):c.408A>G (p.Gln136=) rs200279483 0.00021
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln) rs147447269 0.00021
NM_004006.3(DMD):c.5163G>C (p.Lys1721Asn) rs72468630 0.00021
NM_005422.4(TECTA):c.3317G>A (p.Gly1106Asp) rs144844263 0.00021
NM_006005.3(WFS1):c.1309G>A (p.Gly437Ser) rs147974629 0.00021
NM_006005.3(WFS1):c.2012C>T (p.Ala671Val) rs71530907 0.00021
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu) rs80357147 0.00021
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090 0.00021
NM_012073.5(CCT5):c.1425C>T (p.Thr475=) rs370529963 0.00021
NM_012452.3(TNFRSF13B):c.236A>G (p.Tyr79Cys) rs72553876 0.00021
NM_019844.4(SLCO1B3):c.484T>G (p.Cys162Gly) rs140353351 0.00021
NM_177438.3(DICER1):c.5364+20A>T rs150893725 0.00021
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) rs111033396 0.00021
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773 0.00020
NM_000038.6(APC):c.3006C>T (p.Ala1002=) rs72541810 0.00020
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643 0.00020
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_000257.4(MYH7):c.5283+19C>T rs45582836 0.00020
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys) rs375873637 0.00020
NM_000455.5(STK11):c.1296G>A (p.Gln432=) rs587781179 0.00020
NM_001024630.4(RUNX2):c.254C>T (p.Ala85Val) rs372138746 0.00020
NM_001148.6(ANK2):c.3963T>C (p.Ile1321=) rs72901936 0.00020
NM_001267550.2(TTN):c.14697C>T (p.Ser4899=) rs372740215 0.00020
NM_001291303.3(FAT4):c.11380C>T (p.Arg3794Trp) rs201859188 0.00020
NM_001355436.2(SPTB):c.6484G>A (p.Glu2162Lys) rs375816870 0.00020
NM_003001.5(SDHC):c.120G>A (p.Arg40=) rs36097930 0.00020
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279 0.00020
NM_004082.5(DCTN1):c.837G>A (p.Ala279=) rs72466489 0.00020
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) rs142717240 0.00020
NM_006939.4(SOS2):c.2712A>G (p.Glu904=) rs143332839 0.00020
NM_007272.3(CTRC):c.674A>C (p.Glu225Ala) rs201486613 0.00020
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782 0.00020
NM_144997.7(FLCN):c.246C>T (p.Cys82=) rs150712346 0.00020
NM_000016.6(ACADM):c.468+62C>T rs875989870 0.00019
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782 0.00019
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00019
NM_000059.4(BRCA2):c.6921A>G (p.Ser2307=) rs181183366 0.00019
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met) rs59004709 0.00019
NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg) rs55847618 0.00019
NM_000088.4(COL1A1):c.3100-6C>T rs377123276 0.00019
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509 0.00019
NM_000132.4(F8):c.1018G>A (p.Glu340Lys) rs781954986 0.00019
NM_000138.5(FBN1):c.6705A>C (p.Gly2235=) rs2229326 0.00019
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu) rs146762316 0.00019
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=) rs367927327 0.00019
NM_000384.3(APOB):c.9811G>A (p.Gly3271Ser) rs142422341 0.00019
NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu) rs370422650 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_000717.5(CA4):c.258C>T (p.Asn86=) rs185476073 0.00019
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His) rs556618384 0.00019
NM_001035.3(RYR2):c.1006-12C>T rs367998175 0.00019
NM_001081.4(CUBN):c.5926+5G>A rs143301088 0.00019
NM_001128840.3(CACNA1D):c.3297G>A (p.Thr1099=) rs151094357 0.00019
NM_001142864.4(PIEZO1):c.284-4G>A rs543289166 0.00019
NM_001142864.4(PIEZO1):c.3778G>A (p.Val1260Ile) rs776788949 0.00019
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796 0.00019
NM_001267550.2(TTN):c.14424G>C (p.Val4808=) rs374479775 0.00019
NM_001267550.2(TTN):c.23455G>C (p.Glu7819Gln) rs201420077 0.00019
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met) rs72647868 0.00019
NM_001267550.2(TTN):c.3170T>C (p.Val1057Ala) rs145940356 0.00019
NM_001267550.2(TTN):c.39127+10A>C rs397517554 0.00019
NM_001267550.2(TTN):c.86723A>G (p.Asn28908Ser) rs377612718 0.00019
NM_001267550.2(TTN):c.97578C>T (p.Asp32526=) rs142907833 0.00019
NM_001358263.1(HK1):c.75+5186G>A rs372970369 0.00019
NM_001360016.2(G6PD):c.864+17A>T rs377041776 0.00019
NM_001386125.1(OBSCN):c.20021G>A (p.Ser6674Asn) rs376194851 0.00019
NM_001457.4(FLNB):c.2644G>C (p.Val882Leu) rs139124254 0.00019
NM_001457.4(FLNB):c.5769C>T (p.Ala1923=) rs201723447 0.00019
NM_001457.4(FLNB):c.7198+20C>G rs201580886 0.00019
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) rs367662394 0.00019
NM_001844.5(COL2A1):c.4289C>T (p.Thr1430Met) rs147559634 0.00019
NM_002103.5(GYS1):c.207G>A (p.Thr69=) rs540438011 0.00019
NM_002691.4(POLD1):c.2955G>T (p.Arg985=) rs770495723 0.00019
NM_003072.5(SMARCA4):c.4170+16G>A rs191812860 0.00019
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro) rs121918643 0.00019
NM_004304.5(ALK):c.487G>T (p.Val163Leu) rs55697431 0.00019
NM_004612.4(TGFBR1):c.207C>T (p.Ser69=) rs145033378 0.00019
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu) rs111513627 0.00019
NM_005529.7(HSPG2):c.8554G>A (p.Gly2852Arg) rs199942544 0.00019
NM_006231.4(POLE):c.2781C>T (p.Asn927=) rs775486303 0.00019
NM_006790.3(MYOT):c.323A>C (p.Asn108Thr) rs142416150 0.00019
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys) rs55650082 0.00019
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00019
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_014920.5(CILK1):c.555G>A (p.Ala185=) rs138668959 0.00019
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser) rs368995122 0.00019
NM_024753.5(TTC21B):c.2227G>A (p.Val743Ile) rs183367929 0.00019
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe) rs193030567 0.00019
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln) rs138265409 0.00019
NM_144687.4(NLRP12):c.1022C>T (p.Thr341Ile) rs200996095 0.00019
NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys) rs199881207 0.00019
NM_000038.6(APC):c.3374T>C (p.Val1125Ala) rs377278397 0.00018
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653 0.00018
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=) rs111567071 0.00018
NM_000117.3(EMD):c.272A>G (p.Asn91Ser) rs137977232 0.00018
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745 0.00018
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=) rs148229627 0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325 0.00018
NM_000546.6(TP53):c.1014C>T (p.Phe338=) rs150293825 0.00018
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala) rs201409107 0.00018
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219 0.00018
NM_001065.4(TNFRSF1A):c.1206C>T (p.Ser402=) rs148334665 0.00018
NM_001110556.2(FLNA):c.2845G>A (p.Val949Ile) rs201656372 0.00018
NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly) rs200615848 0.00018
NM_001148.6(ANK2):c.6633C>T (p.Ala2211=) rs143516811 0.00018
NM_001244008.2(KIF1A):c.3202+8G>A rs371620074 0.00018
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu) rs55906845 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_001498.4(GCLC):c.264-11C>A rs199775302 0.00018
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522 0.00018
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482 0.00018
NM_003126.4(SPTA1):c.5081G>A (p.Arg1694His) rs201822255 0.00018
NM_003242.6(TGFBR2):c.984C>T (p.His328=) rs193922666 0.00018
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu) rs754765424 0.00018
NM_004360.5(CDH1):c.2412C>T (p.Pro804=) rs202075199 0.00018
NM_004517.4(ILK):c.707A>G (p.Asn236Ser) rs145571020 0.00018
NM_005422.4(TECTA):c.3556C>T (p.Arg1186Trp) rs148098950 0.00018
NM_005428.4(VAV1):c.1536C>T (p.Thr512=) rs200254050 0.00018
NM_006031.6(PCNT):c.6819G>A (p.Gly2273=) rs200610141 0.00018
NM_007294.4(BRCA1):c.5406+33A>T rs80358092 0.00018
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856 0.00018
NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile) rs147532612 0.00018
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly) rs201375579 0.00017
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=) rs147854265 0.00017
NM_000059.4(BRCA2):c.67+17T>C rs767648965 0.00017
NM_000089.4(COL1A2):c.1583A>G (p.Asn528Ser) rs41317144 0.00017
NM_000112.4(SLC26A2):c.1410A>G (p.Val470=) rs115777661 0.00017
NM_000342.4(SLC4A1):c.277G>T (p.Ala93Ser) rs145054469 0.00017
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343 0.00017
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_000548.5(TSC2):c.4493+18G>A rs45454201 0.00017
NM_000558.5(HBA1):c.96-1G>A rs34883113 0.00017
NM_000719.7(CACNA1C):c.1419C>T (p.Ser473=) rs368065584 0.00017
NM_001267550.2(TTN):c.65575+10T>C rs72646864 0.00017
NM_001375808.2(LPIN2):c.2328-13A>T rs199830303 0.00017
NM_001457.4(FLNB):c.5785G>A (p.Asp1929Asn) rs146685642 0.00017
NM_001844.5(COL2A1):c.2620C>T (p.Pro874Ser) rs377198201 0.00017
NM_001972.4(ELANE):c.366+12C>A rs377068029 0.00017
NM_007078.3(LDB3):c.1335C>T (p.Tyr445=) rs587781024 0.00017
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686 0.00017
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg) rs182698253 0.00017
NM_133379.5(TTN):c.15981G>A (p.Gln5327=) rs186841908 0.00017
NM_000038.6(APC):c.6669A>G (p.Ser2223=) rs372680843 0.00016
NM_000059.4(BRCA2):c.3417G>A (p.Lys1139=) rs145625991 0.00016
NM_000059.4(BRCA2):c.9649-20C>T rs56177715 0.00016
NM_000089.4(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343 0.00016
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) rs140452381 0.00016
NM_000243.3(MEFV):c.297C>T (p.Asn99=) rs104895175 0.00016
NM_000251.3(MSH2):c.1275A>G (p.Glu425=) rs63751650 0.00016
NM_000316.3(PTH1R):c.357G>A (p.Pro119=) rs143692596 0.00016
NM_000352.6(ABCC8):c.3000C>T (p.Cys1000=) rs192863214 0.00016
NM_000368.5(TSC1):c.1936A>G (p.Met646Val) rs145741748 0.00016
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) rs137852313 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.2502T>G (p.Phe834Leu) rs200735475 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_000525.4(KCNJ11):c.1017G>T (p.Val339=) rs770408379 0.00016
NM_000548.5(TSC2):c.2356-15T>A rs189674303 0.00016
NM_000548.5(TSC2):c.4493+17C>T rs45517345 0.00016
NM_001034850.3(RETREG1):c.86C>T (p.Pro29Leu) rs528532732 0.00016
NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys) rs201131315 0.00016
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_001142864.4(PIEZO1):c.1447G>C (p.Val483Leu) rs747301309 0.00016
NM_001142864.4(PIEZO1):c.4891C>T (p.Arg1631Cys) rs566969453 0.00016
NM_001142864.4(PIEZO1):c.6829C>A (p.Leu2277Met) rs563555492 0.00016
NM_001142864.4(PIEZO1):c.7204G>C (p.Glu2402Gln) rs773860217 0.00016
NM_001148.6(ANK2):c.270G>T (p.Val90=) rs376457094 0.00016
NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp) rs137852754 0.00016
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) rs200497615 0.00016
NM_001267550.2(TTN):c.36019G>C (p.Glu12007Gln) rs761660130 0.00016
NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser) rs776256093 0.00016
NM_001267550.2(TTN):c.80417A>G (p.His26806Arg) rs181766682 0.00016
NM_001267550.2(TTN):c.87771C>A (p.Gly29257=) rs72648230 0.00016
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His) rs397517756 0.00016
NM_001267550.2(TTN):c.97055G>A (p.Arg32352His) rs575939045 0.00016
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737 0.00016
NM_002230.4(JUP):c.2178C>T (p.Ile726=) rs141295561 0.00016
NM_002474.3(MYH11):c.3932C>T (p.Ala1311Val) rs185720909 0.00016
NM_002769.5(PRSS1):c.40+13C>T rs368872847 0.00016
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_002890.3(RASA1):c.224G>C (p.Gly75Ala) rs200002693 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_004281.4(BAG3):c.1588G>A (p.Val530Met) rs144678100 0.00016
NM_004304.5(ALK):c.2149G>A (p.Glu717Lys) rs147858673 0.00016
NM_004655.4(AXIN2):c.1242G>A (p.Arg414=) rs200325634 0.00016
NM_004655.4(AXIN2):c.780T>C (p.Ser260=) rs147681058 0.00016
NM_004985.5(KRAS):c.198A>G (p.Ala66=) rs200229810 0.00016
NM_005633.4(SOS1):c.109A>G (p.Thr37Ala) rs150565592 0.00016
NM_006031.6(PCNT):c.8401G>C (p.Val2801Leu) rs138868039 0.00016
NM_006231.4(POLE):c.6597C>T (p.Ile2199=) rs147611144 0.00016
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp) rs80357075 0.00016
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=) rs142509316 0.00016
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=) rs374944458 0.00016
NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys) rs201166295 0.00016
NM_020320.5(RARS2):c.472_474del (p.Lys158del) rs757743894 0.00016
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969 0.00016
NM_032119.4(ADGRV1):c.18754G>A (p.Asp6252Asn) rs201800819 0.00016
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=) rs370153686 0.00016
NM_080916.3(DGUOK):c.366G>C (p.Gln122His) rs199645258 0.00016
NM_144997.7(FLCN):c.1278C>T (p.Ile426=) rs41459448 0.00016
NM_170707.4(LMNA):c.1656C>T (p.Asp552=) rs370219874 0.00016
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_177438.3(DICER1):c.3553G>A (p.Ala1185Thr) rs150514959 0.00016
NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met) rs202173395 0.00016
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr) rs528342000 0.00016
NM_000033.4(ABCD1):c.901-5C>T rs782603062 0.00015
NM_000052.7(ATP7A):c.1737A>G (p.Val579=) rs189353691 0.00015
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu) rs56019712 0.00015
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=) rs149697299 0.00015
NM_000243.3(MEFV):c.1518C>T (p.Ile506=) rs104895099 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.1939G>A (p.Asp647Asn) rs45509392 0.00015
NM_000548.5(TSC2):c.4809C>T (p.Asp1603=) rs147578602 0.00015
NM_001005242.3(PKP2):c.195C>T (p.Ala65=) rs397517014 0.00015
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812 0.00015
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=) rs370735674 0.00015
NM_001145809.2(MYH14):c.3098C>T (p.Thr1033Met) rs201746408 0.00015
NM_001267550.2(TTN):c.98959T>C (p.Ser32987Pro) rs758494581 0.00015
NM_001358263.1(HK1):c.28-3329G>A rs192516988 0.00015
NM_001364905.1(LRBA):c.3423C>T (p.Ala1141=) rs141442145 0.00015
NM_001370259.2(MEN1):c.1508G>A (p.Gly503Asp) rs375804228 0.00015
NM_001457.4(FLNB):c.2095C>T (p.Arg699Trp) rs200554477 0.00015
NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln) rs149241435 0.00015
NM_006231.4(POLE):c.252C>T (p.Tyr84=) rs148838481 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val) rs201393026 0.00015
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg) rs147008323 0.00015
NM_133379.5(TTN):c.12724A>G (p.Ser4242Gly) rs541264551 0.00015
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr) rs142898216 0.00015
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084 0.00014
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251 0.00014
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp) rs147600485 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_000093.5(COL5A1):c.3906+19C>T rs571788196 0.00014
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=) rs144822241 0.00014
NM_000142.5(FGFR3):c.930+10C>T rs534857289 0.00014
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000435.3(NOTCH3):c.499C>T (p.Pro167Ser) rs202157633 0.00014
NM_000435.3(NOTCH3):c.6611C>T (p.Pro2204Leu) rs371738874 0.00014
NM_000492.4(CFTR):c.2559T>C (p.Ile853=) rs1800104 0.00014
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_000719.7(CACNA1C):c.1002C>T (p.Pro334=) rs112002520 0.00014
NM_000744.7(CHRNA4):c.1360G>A (p.Gly454Ser) rs78306886 0.00014
NM_001042492.3(NF1):c.2133C>T (p.Arg711=) rs148085908 0.00014
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=) rs370868704 0.00014
NM_001114753.3(ENG):c.694C>T (p.Arg232Trp) rs200372420 0.00014
NM_001130438.3(SPTAN1):c.7161-8G>A rs202180736 0.00014
NM_001142864.4(PIEZO1):c.5656G>A (p.Ala1886Thr) rs757753448 0.00014
NM_001142864.4(PIEZO1):c.950G>C (p.Gly317Ala) rs868678918 0.00014
NM_001145809.2(MYH14):c.526G>A (p.Ala176Thr) rs138001307 0.00014
NM_001148.6(ANK2):c.2249A>G (p.Gln750Arg) rs371787039 0.00014
NM_001148.6(ANK2):c.4372-7C>T rs370720661 0.00014
NM_001199397.3(NEK1):c.594A>G (p.Thr198=) rs373252814 0.00014
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=) rs371535721 0.00014
NM_001267550.2(TTN):c.30888A>G (p.Lys10296=) rs587780978 0.00014
NM_001267550.2(TTN):c.32731G>A (p.Glu10911Lys) rs199620003 0.00014
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu) rs200968679 0.00014
NM_001267550.2(TTN):c.74042A>G (p.Gln24681Arg) rs537071956 0.00014
NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly) rs145373396 0.00014
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=) rs371656672 0.00014
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) rs181011657 0.00014
NM_001770.6(CD19):c.390T>A (p.Gly130=) rs573154781 0.00014
NM_001844.5(COL2A1):c.1635C>T (p.Asn545=) rs141321284 0.00014
NM_001844.5(COL2A1):c.246C>T (p.Phe82=) rs142161948 0.00014
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=) rs199564260 0.00014
NM_003126.4(SPTA1):c.749G>A (p.Arg250His) rs759192785 0.00014
NM_003978.5(PSTPIP1):c.1115C>T (p.Ala372Val) rs200188483 0.00014
NM_003978.5(PSTPIP1):c.555C>T (p.Thr185=) rs370782742 0.00014
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr) rs185706283 0.00014
NM_006767.4(LZTR1):c.2407-18G>A rs542841506 0.00014
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln) rs145704867 0.00014
NM_017617.5(NOTCH1):c.6509G>A (p.Ser2170Asn) rs200254239 0.00014
NM_032119.4(ADGRV1):c.2456G>A (p.Ser819Asn) rs182395524 0.00014
NM_033100.4(CDHR1):c.1751C>T (p.Thr584Met) rs754321329 0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000023.4(SGCA):c.408C>T (p.Ala136=) rs143551687 0.00013
NM_000038.6(APC):c.1548+17T>C rs367690523 0.00013
NM_000051.4(ATM):c.1773T>C (p.Asn591=) rs61734356 0.00013
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val) rs80358589 0.00013
NM_000059.4(BRCA2):c.6960G>A (p.Leu2320=) rs373134168 0.00013
NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys) rs143933255 0.00013
NM_000071.3(CBS):c.1072G>A (p.Val358Met) rs148589243 0.00013
NM_000071.3(CBS):c.146C>T (p.Pro49Leu) rs148865119 0.00013
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) rs144890720 0.00013
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His) rs144751329 0.00013
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=) rs142352627 0.00013
NM_000138.5(FBN1):c.8232G>A (p.Gln2744=) rs376119827 0.00013
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=) rs933589600 0.00013
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met) rs199620476 0.00013
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649 0.00013
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824 0.00013
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His) rs768360593 0.00013
NM_000891.3(KCNJ2):c.1244C>T (p.Pro415Leu) rs373799322 0.00013
NM_001105206.3(LAMA4):c.1673C>T (p.Ala558Val) rs137893207 0.00013
NM_001142864.4(PIEZO1):c.4496-13C>T rs543403418 0.00013
NM_001243133.2(NLRP3):c.2364C>A (p.Ile788=) rs766840708 0.00013
NM_001267550.2(TTN):c.16091G>A (p.Arg5364His) rs200941841 0.00013
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) rs200944827 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.86658G>A (p.Glu28886=) rs760858743 0.00013
NM_001291303.3(FAT4):c.1099G>A (p.Val367Ile) rs747531733 0.00013
NM_001355436.2(SPTB):c.5943C>T (p.Arg1981=) rs75000411 0.00013
NM_001377.3(DYNC2H1):c.11726G>A (p.Gly3909Asp) rs201479015 0.00013
NM_001386125.1(OBSCN):c.3185C>T (p.Ser1062Phe) rs200058427 0.00013
NM_001999.4(FBN2):c.4902C>T (p.Pro1634=) rs201071253 0.00013
NM_002109.6(HARS1):c.679T>G (p.Ser227Ala) rs768076848 0.00013
NM_002907.4(RECQL):c.468T>G (p.Ile156Met) rs777214281 0.00013
NM_003036.4(SKI):c.640A>G (p.Ser214Gly) rs139179843 0.00013
NM_003239.5(TGFB3):c.88T>C (p.Leu30=) rs3917145 0.00013
NM_003242.6(TGFBR2):c.94+16238C>T rs149757320 0.00013
NM_004006.3(DMD):c.8255A>G (p.Tyr2752Cys) rs373832446 0.00013
NM_004281.4(BAG3):c.1029C>A (p.Arg343=) rs117972572 0.00013
NM_004304.5(ALK):c.3173-11C>T rs79339096 0.00013
NM_004656.4(BAP1):c.1735G>A (p.Gly579Arg) rs370004702 0.00013
NM_005188.4(CBL):c.-5A>G rs552214111 0.00013
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=) rs62625305 0.00013
NM_016239.4(MYO15A):c.10054G>A (p.Ala3352Thr) rs367863299 0.00013
NM_022367.4(SEMA4A):c.1694-13C>G rs144540956 0.00013
NM_031475.3(ESPN):c.2230G>A (p.Asp744Asn) rs121908135 0.00013
NM_133459.4(CCBE1):c.843A>T (p.Pro281=) rs191592668 0.00013
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167 0.00013
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330 0.00013
NM_213599.3(ANO5):c.2256G>A (p.Thr752=) rs144048656 0.00013
NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=) rs145887771 0.00012
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00012
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=) rs45525041 0.00012
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633 0.00012
NM_000132.4(F8):c.222G>A (p.Thr74=) rs1232517683 0.00012
NM_000219.6(KCNE1):c.162C>T (p.Phe54=) rs17173508 0.00012
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys) rs190765116 0.00012
NM_000316.3(PTH1R):c.1155C>T (p.Leu385=) rs201360775 0.00012
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664 0.00012
NM_000517.6(HBA2):c.409C>A (p.Leu137Met) rs41364652 0.00012
NM_000535.7(PMS2):c.1320A>G (p.Pro440=) rs138697590 0.00012
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105 0.00012
NM_000883.4(IMPDH1):c.377T>C (p.Phe126Ser) rs367549284 0.00012
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val) rs528213425 0.00012
NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser) rs199947459 0.00012
NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg) rs777024498 0.00012
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=) rs140994965 0.00012
NM_001142864.4(PIEZO1):c.7099G>A (p.Glu2367Lys) rs552562531 0.00012
NM_001159773.2(CANT1):c.632-15A>C rs186671535 0.00012
NM_001199397.3(NEK1):c.859C>G (p.Pro287Ala) rs35222922 0.00012
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser) rs375209098 0.00012
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser) rs201120871 0.00012
NM_001267550.2(TTN):c.39430G>A (p.Val13144Ile) rs374394719 0.00012
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys) rs200028088 0.00012
NM_001375808.2(LPIN2):c.2535A>C (p.Gly845=) rs186864136 0.00012
NM_001457.4(FLNB):c.1640C>T (p.Ala547Val) rs200619215 0.00012
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr) rs201817670 0.00012
NM_001853.4(COL9A3):c.1932C>T (p.Pro644=) rs550889206 0.00012
NM_002769.5(PRSS1):c.390C>T (p.Thr130=) rs561097415 0.00012
NM_002890.3(RASA1):c.1332+8T>C rs376637789 0.00012
NM_003978.5(PSTPIP1):c.1054G>A (p.Glu352Lys) rs201186216 0.00012
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637 0.00012
NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln) rs537908254 0.00012
NM_006939.4(SOS2):c.702G>A (p.Leu234=) rs200208472 0.00012
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
NM_007272.3(CTRC):c.747G>A (p.Pro249=) rs150078209 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_007294.4(BRCA1):c.5304C>T (p.Cys1768=) rs138493864 0.00012
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621 0.00012
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys) rs140116005 0.00012
NM_016222.4(DDX41):c.3G>A (p.Met1Ile) rs141601766 0.00012
NM_018979.4(WNK1):c.2664A>G (p.Val888=) rs769020140 0.00012
NM_019844.4(SLCO1B3):c.971-2A>G rs140033394 0.00012
NM_032578.4(MYPN):c.3934C>T (p.Arg1312Trp) rs142354704 0.00012
NM_000038.6(APC):c.3875C>T (p.Thr1292Met) rs371113837 0.00011
NM_000051.4(ATM):c.6348-8T>C rs730881292 0.00011
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile) rs28897715 0.00011
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926 0.00011
NM_000059.4(BRCA2):c.9501+9A>C rs81002867 0.00011
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075 0.00011
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg) rs767606368 0.00011
NM_000179.3(MSH6):c.628-7C>A rs373129248 0.00011
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser) rs151129360 0.00011
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr) rs199552354 0.00011
NM_000297.4(PKD2):c.2523-7C>T rs199528409 0.00011
NM_000352.6(ABCC8):c.102G>A (p.Val34=) rs189746511 0.00011
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736 0.00011
NM_000414.4(HSD17B4):c.1317A>G (p.Val439=) rs771922933 0.00011
NM_000455.5(STK11):c.825G>A (p.Pro275=) rs202011521 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.3415A>G (p.Ile1139Val) rs397508556 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300 0.00011
NM_001035.3(RYR2):c.2630A>C (p.His877Pro) rs561321743 0.00011
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys) rs377662483 0.00011
NM_001048174.2(MUTYH):c.1464G>A (p.Pro488=) rs143796254 0.00011
NM_001130823.3(DNMT1):c.4876G>A (p.Glu1626Lys) rs201774098 0.00011
NM_001130823.3(DNMT1):c.868G>A (p.Glu290Lys) rs200024502 0.00011
NM_001134363.3(RBM20):c.1922G>A (p.Arg641Gln) rs143785916 0.00011
NM_001142864.4(PIEZO1):c.1370G>A (p.Arg457His) rs371267171 0.00011
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp) rs397517500 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_001355436.2(SPTB):c.4105A>G (p.Lys1369Glu) rs760803657 0.00011
NM_001355436.2(SPTB):c.4511C>T (p.Ala1504Val) rs200876438 0.00011
NM_001360.3(DHCR7):c.765C>T (p.Phe255=) rs200132007 0.00011
NM_001370466.1(NOD2):c.2382-9T>A rs201759367 0.00011
NM_002230.4(JUP):c.352G>A (p.Glu118Lys) rs149004293 0.00011
NM_002471.4(MYH6):c.2929-3C>T rs376752266 0.00011
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_003052.5(SLC34A1):c.1223T>A (p.Val408Glu) rs140649226 0.00011
NM_003482.4(KMT2D):c.1490C>T (p.Pro497Leu) rs371421459 0.00011
NM_004281.4(BAG3):c.415C>T (p.Arg139Trp) rs556465096 0.00011
NM_004329.3(BMPR1A):c.961C>T (p.Leu321=) rs377412651 0.00011
NM_004415.4(DSP):c.6753G>A (p.Lys2251=) rs750294829 0.00011
NM_005529.7(HSPG2):c.6927C>T (p.Tyr2309=) rs552716935 0.00011
NM_006031.6(PCNT):c.4775T>G (p.Val1592Gly) rs141276542 0.00011
NM_006231.4(POLE):c.285+13C>A rs76960367 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.441+18C>T rs371973519 0.00011
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342 0.00011
NM_016169.4(SUFU):c.1245C>T (p.Gly415=) rs144158469 0.00011
NM_020975.6(RET):c.1522+35C>T rs377130948 0.00011
NM_024675.4(PALB2):c.2027T>C (p.Ile676Thr) rs200875161 0.00011
NM_032043.3(BRIP1):c.249A>G (p.Gln83=) rs45528833 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_053025.4(MYLK):c.3843C>T (p.Ser1281=) rs377231739 0.00011
NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu) rs201179101 0.00011
NM_000018.4(ACADVL):c.62+9G>A rs369512281 0.00010
NM_000051.4(ATM):c.6382T>C (p.Leu2128=) rs753646931 0.00010
NM_000053.4(ATP7B):c.3243+5G>A rs373193482 0.00010
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765 0.00010
NM_000138.5(FBN1):c.2094G>T (p.Pro698=) rs144775475 0.00010
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849 0.00010
NM_000243.3(MEFV):c.1043G>A (p.Arg348His) rs104895198 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_000264.5(PTCH1):c.2859C>T (p.Ala953=) rs142131559 0.00010
NM_000335.5(SCN5A):c.4299T>C (p.Tyr1433=) rs200556220 0.00010
NM_000368.5(TSC1):c.3303G>A (p.Glu1101=) rs118203751 0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034 0.00010
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423 0.00010
NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn) rs138462416 0.00010
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343 0.00010
NM_000546.6(TP53):c.673-37C>T rs374907737 0.00010
NM_000548.5(TSC2):c.2986A>G (p.Thr996Ala) rs139753238 0.00010
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys) rs61750077 0.00010
NM_001009944.3(PKD1):c.9022G>A (p.Val3008Met) rs117896488 0.00010
NM_001042492.3(NF1):c.2252-34T>C rs200937398 0.00010
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=) rs200363918 0.00010
NM_001110792.2(MECP2):c.204C>T (p.Pro68=) rs61754435 0.00010
NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr) rs10776 0.00010
NM_001142864.4(PIEZO1):c.2759G>A (p.Arg920Gln) rs752372837 0.00010
NM_001142864.4(PIEZO1):c.6705C>T (p.Phe2235=) rs747798306 0.00010
NM_001142864.4(PIEZO1):c.7558A>G (p.Lys2520Glu) rs570744198 0.00010
NM_001148.6(ANK2):c.3074G>C (p.Gly1025Ala) rs773532854 0.00010
NM_001148.6(ANK2):c.962G>A (p.Arg321Gln) rs150226540 0.00010
NM_001267550.2(TTN):c.1815T>C (p.Thr605=) rs757604614 0.00010
NM_001267550.2(TTN):c.44323G>A (p.Val14775Met) rs540115992 0.00010
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu) rs200778464 0.00010
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu) rs397517662 0.00010
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu) rs142453163 0.00010
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys) rs397517719 0.00010
NM_001355436.2(SPTB):c.1773C>G (p.Thr591=) rs565667858 0.00010
NM_001370259.2(MEN1):c.1638G>A (p.Pro546=) rs368783097 0.00010
NM_001379180.1(ESRRB):c.1177G>A (p.Glu393Lys) rs747893418 0.00010
NM_001498.4(GCLC):c.984A>T (p.Arg328=) rs181411098 0.00010
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys) rs587780102 0.00010
NM_004006.3(DMD):c.3548G>C (p.Arg1183Thr) rs374993642 0.00010
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) rs149513743 0.00010
NM_004984.4(KIF5A):c.1932G>A (p.Thr644=) rs370644634 0.00010
NM_005359.6(SMAD4):c.424+5G>A rs200772603 0.00010
NM_005529.7(HSPG2):c.4758C>T (p.Ala1586=) rs374708543 0.00010
NM_005633.4(SOS1):c.553A>G (p.Ile185Val) rs143962515 0.00010
NM_006371.5(CRTAP):c.471+2C>A rs137853943 0.00010
NM_015627.3(LDLRAP1):c.423C>T (p.Leu141=) rs140170877 0.00010
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln) rs368011392 0.00010
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=) rs61751559 0.00010
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln) rs200521815 0.00010
NM_021625.5(TRPV4):c.1398C>T (p.Phe466=) rs146929022 0.00010
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn) rs150318400 0.00010
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp) rs146579504 0.00010
NM_032119.4(ADGRV1):c.10768A>T (p.Ser3590Cys) rs183319660 0.00010
NM_052859.4(RFT1):c.827-14T>C rs571722733 0.00010
NM_133379.5(TTN):c.16394G>A (p.Arg5465Gln) rs148147002 0.00010
NM_194248.3(OTOF):c.1732G>C (p.Val578Leu) rs144907002 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_000037.4(ANK1):c.1926C>T (p.Ala642=) rs534680895 0.00009
NM_000037.4(ANK1):c.4136C>T (p.Pro1379Leu) rs748160803 0.00009
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065 0.00009
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser) rs762866453 0.00009
NM_000059.4(BRCA2):c.*14C>T rs373436334 0.00009
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654 0.00009
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572 0.00009
NM_000059.4(BRCA2):c.4314C>T (p.Val1438=) rs730881590 0.00009
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945 0.00009
NM_000059.4(BRCA2):c.4977C>T (p.Ser1659=) rs45484897 0.00009
NM_000059.4(BRCA2):c.516+18T>C rs81002834 0.00009
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768 0.00009
NM_000059.4(BRCA2):c.7435+23A>G rs761412178 0.00009
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069 0.00009
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg) rs371344739 0.00009
NM_000093.5(COL5A1):c.2134-11G>C rs369317619 0.00009
NM_000093.5(COL5A1):c.3691-9T>C rs187584029 0.00009
NM_000093.5(COL5A1):c.804C>T (p.Gly268=) rs147729713 0.00009
NM_000133.4(F9):c.1345C>T (p.Arg449Trp) rs757996262 0.00009
NM_000138.5(FBN1):c.5225-13T>G rs367786211 0.00009
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999 0.00009
NM_000243.3(MEFV):c.198C>T (p.Ala66=) rs149380763 0.00009
NM_000245.4(MET):c.2318C>T (p.Pro773Leu) rs771333219 0.00009
NM_000257.4(MYH7):c.2183C>T (p.Ala728Val) rs121913644 0.00009
NM_000257.4(MYH7):c.327C>T (p.Tyr109=) rs36211408 0.00009
NM_000257.4(MYH7):c.5361A>G (p.Glu1787=) rs201171029 0.00009
NM_000302.4(PLOD1):c.1203-3C>T rs376288573 0.00009
NM_000335.5(SCN5A):c.3951G>A (p.Glu1317=) rs769473892 0.00009
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile) rs199473278 0.00009
NM_000371.4(TTR):c.354C>T (p.Asn118=) rs11541797 0.00009
NM_000435.3(NOTCH3):c.4053C>T (p.Arg1351=) rs927758025 0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 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.3718-24G>A rs374013084 0.00009
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp) rs4148725 0.00009
NM_000518.4(HBB):c.-132G>T rs887821047 0.00009
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000546.6(TP53):c.6G>A (p.Glu2=) rs143458271 0.00009
NM_000548.5(TSC2):c.4302C>T (p.Gly1434=) rs137854000 0.00009
NM_000558.5(HBA1):c.237del (p.Asn79fs) rs767911847 0.00009
NM_000717.5(CA4):c.415A>T (p.Met139Leu) rs185658468 0.00009
NM_000834.5(GRIN2B):c.4311C>T (p.Ala1437=) rs112265127 0.00009
NM_001042492.3(NF1):c.4836-3T>C rs372460369 0.00009
NM_001048174.2(MUTYH):c.612C>T (p.Thr204=) rs780747266 0.00009
NM_001079802.2(FKTN):c.1172+13T>C rs768792475 0.00009
NM_001105206.3(LAMA4):c.3817T>C (p.Phe1273Leu) rs781966924 0.00009
NM_001110556.2(FLNA):c.4533T>C (p.Tyr1511=) rs191786597 0.00009
NM_001142864.4(PIEZO1):c.5790C>G (p.Phe1930Leu) rs750027720 0.00009
NM_001148.6(ANK2):c.1136G>T (p.Arg379Leu) rs186264035 0.00009
NM_001148.6(ANK2):c.877G>A (p.Asp293Asn) rs752213208 0.00009
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_001244008.2(KIF1A):c.4374C>T (p.Gly1458=) rs375309925 0.00009
NM_001267550.2(TTN):c.102353G>A (p.Arg34118Gln) rs551905996 0.00009
NM_001267550.2(TTN):c.105091G>A (p.Val35031Met) rs552058608 0.00009
NM_001267550.2(TTN):c.13884C>T (p.Ser4628=) rs183328495 0.00009
NM_001267550.2(TTN):c.24227-16G>A rs377340591 0.00009
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=) rs556205722 0.00009
NM_001267550.2(TTN):c.57544+7dup rs750881309 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.7058-17C>T rs572098454 0.00009
NM_001267550.2(TTN):c.72802C>T (p.Arg24268Cys) rs370474301 0.00009
NM_001355436.2(SPTB):c.3425G>A (p.Arg1142Gln) rs141173028 0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His) rs79805025 0.00009
NM_001370259.2(MEN1):c.655-4del rs748005956 0.00009
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=) rs147633551 0.00009
NM_002474.3(MYH11):c.5277C>T (p.Val1759=) rs112564682 0.00009
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_002890.3(RASA1):c.64G>T (p.Gly22Cys) rs371413736 0.00009
NM_003036.4(SKI):c.897C>T (p.Arg299=) rs773901705 0.00009
NM_003482.4(KMT2D):c.793C>T (p.Arg265Cys) rs766543419 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_004360.5(CDH1):c.1996A>C (p.Asn666His) rs150427791 0.00009
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln) rs201736018 0.00009
NM_005188.4(CBL):c.1566T>C (p.Ala522=) rs371065029 0.00009
NM_006005.3(WFS1):c.173C>T (p.Ala58Val) rs369671890 0.00009
NM_006005.3(WFS1):c.511G>A (p.Asp171Asn) rs758281375 0.00009
NM_006031.6(PCNT):c.1155A>G (p.Ala385=) rs201944549 0.00009
NM_006912.6(RIT1):c.634C>T (p.Arg212Trp) rs563231684 0.00009
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser) rs561495878 0.00009
NM_007194.4(CHEK2):c.1095+19G>A rs200020484 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_007272.3(CTRC):c.533A>G (p.Gln178Arg) rs200678111 0.00009
NM_007272.3(CTRC):c.550G>A (p.Ala184Thr) rs761546594 0.00009
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=) rs372017932 0.00009
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673 0.00009
NM_012452.3(TNFRSF13B):c.577T>C (p.Cys193Arg) rs764125338 0.00009
NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg) rs146900850 0.00009
NM_017433.5(MYO3A):c.315del (p.Gly106fs) rs777580042 0.00009
NM_022051.3(EGLN1):c.843C>T (p.Arg281=) rs143108243 0.00009
NM_022489.4(INF2):c.1499C>T (p.Pro500Leu) rs561201601 0.00009
NM_024675.4(PALB2):c.12T>C (p.Pro4=) rs567706422 0.00009
NM_053025.4(MYLK):c.2589G>A (p.Glu863=) rs536506601 0.00009
NM_130837.3(OPA1):c.2099A>G (p.Asn700Ser) rs142694017 0.00009
NM_000018.4(ACADVL):c.1182+17C>A rs191276923 0.00008
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_000038.6(APC):c.721G>A (p.Glu241Lys) rs777603154 0.00008
NM_000053.4(ATP7B):c.2731-2A>G rs367956522 0.00008
NM_000059.4(BRCA2):c.3420T>C (p.Ser1140=) rs118093942 0.00008
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg) rs80358730 0.00008
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097 0.00008
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_000093.5(COL5A1):c.1495-11C>A rs199501759 0.00008
NM_000093.5(COL5A1):c.5250G>A (p.Val1750=) rs200348547 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_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00008
NM_000342.4(SLC4A1):c.1800+12C>T rs556266412 0.00008
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln) rs137852328 0.00008
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys) rs199791061 0.00008
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859 0.00008
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=) rs371831239 0.00008
NM_001003800.2(BICD2):c.2350A>G (p.Met784Val) rs149891938 0.00008
NM_001035.3(RYR2):c.7608T>C (p.Ala2536=) rs367987360 0.00008
NM_001267550.2(TTN):c.2760C>T (p.His920=) rs138788406 0.00008
NM_002230.4(JUP):c.1982G>A (p.Arg661Gln) rs555499592 0.00008
NM_002234.4(KCNA5):c.544G>A (p.Gly182Arg) rs755408841 0.00008
NM_002485.5(NBN):c.38-19A>T rs766849651 0.00008
NM_003036.4(SKI):c.1109T>C (p.Val370Ala) rs138088528 0.00008
NM_003978.5(PSTPIP1):c.-124C>T rs760819203 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_004281.4(BAG3):c.211C>T (p.Arg71Trp) rs387906874 0.00008
NM_006206.6(PDGFRA):c.738A>G (p.Gln246=) rs377699966 0.00008
NM_007294.4(BRCA1):c.4644G>A (p.Thr1548=) rs28897692 0.00008
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val) rs80357465 0.00008
NM_007294.4(BRCA1):c.987T>C (p.Asn329=) rs774849810 0.00008
NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly) rs730881019 0.00008
NM_014874.4(MFN2):c.160G>A (p.Ala54Thr) rs61733203 0.00008
NM_017780.4(CHD7):c.127A>G (p.Ile43Val) rs201542180 0.00008
NM_019844.4(SLCO1B3):c.459A>G (p.Thr153=) rs370334648 0.00008
NM_024422.6(DSC2):c.4G>A (p.Glu2Lys) rs762556795 0.00008
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn) rs150369301 0.00008
NM_053025.4(MYLK):c.3832-9C>T rs200022087 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_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe) rs762114560 0.00007
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg) rs121434278 0.00007
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_000132.4(F8):c.1094A>G (p.Tyr365Cys) rs375241473 0.00007
NM_000179.3(MSH6):c.2314C>A (p.Arg772=) rs63750138 0.00007
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000249.4(MLH1):c.42A>C (p.Thr14=) rs369737664 0.00007
NM_000260.4(MYO7A):c.2308G>A (p.Ala770Thr) rs375253473 0.00007
NM_000291.4(PGK1):c.846G>C (p.Leu282Phe) rs782668224 0.00007
NM_000435.3(NOTCH3):c.4728G>C (p.Glu1576Asp) rs557113034 0.00007
NM_000455.5(STK11):c.357C>T (p.Asn119=) rs372511774 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_000517.6(HBA2):c.*98T>C rs1455865276 0.00007
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228 0.00007
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000891.3(KCNJ2):c.1080C>T (p.Asp360=) rs66476803 0.00007
NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val) rs746910149 0.00007
NM_001009944.3(PKD1):c.8305C>T (p.Leu2769Phe) rs771382752 0.00007
NM_001035.3(RYR2):c.10017C>T (p.His3339=) rs376439588 0.00007
NM_001035.3(RYR2):c.11766G>A (p.Glu3922=) rs774625105 0.00007
NM_001048174.2(MUTYH):c.1107G>T (p.Leu369=) rs201412035 0.00007
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu) rs202153130 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_001142864.4(PIEZO1):c.1504C>T (p.Arg502Cys) rs750545429 0.00007
NM_001142864.4(PIEZO1):c.7381G>A (p.Glu2461Lys) rs371391349 0.00007
NM_001142864.4(PIEZO1):c.988C>T (p.Arg330Cys) rs546108970 0.00007
NM_001243133.2(NLRP3):c.1044G>A (p.Thr348=) rs143140947 0.00007
NM_001243133.2(NLRP3):c.1665C>T (p.Asp555=) rs151097783 0.00007
NM_001457.4(FLNB):c.1873G>A (p.Glu625Lys) rs372998485 0.00007
NM_001457.4(FLNB):c.6221A>G (p.Lys2074Arg) rs148043654 0.00007
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala) rs191300661 0.00007
NM_001972.4(ELANE):c.68-13G>A rs371409487 0.00007
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu) rs144574441 0.00007
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629 0.00007
NM_002755.4(MAP2K1):c.1068+18G>A rs369137482 0.00007
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819 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_004360.5(CDH1):c.1297G>A (p.Asp433Asn) rs199886166 0.00007
NM_005422.4(TECTA):c.4481T>C (p.Val1494Ala) rs200544452 0.00007
NM_005751.5(AKAP9):c.5284A>G (p.Lys1762Glu) rs568626378 0.00007
NM_006005.3(WFS1):c.2119G>A (p.Val707Ile) rs71524377 0.00007
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu) rs28937890 0.00007
NM_006493.4(CLN5):c.642A>T (p.Val214=) rs751496223 0.00007
NM_007215.4(POLG2):c.328C>G (p.Leu110Val) rs782703026 0.00007
NM_007294.4(BRCA1):c.-19-10T>C rs201866997 0.00007
NM_007294.4(BRCA1):c.593+3G>A rs80358013 0.00007
NM_031206.7(LAS1L):c.1341A>G (p.Ala447=) rs766767923 0.00007
NM_032119.4(ADGRV1):c.6684T>A (p.Ser2228=) rs373667458 0.00007
NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val) rs747614562 0.00007
NM_053025.4(MYLK):c.382G>A (p.Ala128Thr) rs147840022 0.00007
NM_153676.4(USH1C):c.2004C>A (p.Pro668=) rs201586291 0.00007
NM_182961.4(SYNE1):c.20200-3T>C rs770710698 0.00007
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile) rs775537775 0.00006
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln) rs147366714 0.00006
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000051.4(ATM):c.7521C>T (p.Asp2507=) rs751234924 0.00006
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met) rs200290721 0.00006
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797 0.00006
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 0.00006
NM_000059.4(BRCA2):c.1021T>C (p.Cys341Arg) rs55833327 0.00006
NM_000059.4(BRCA2):c.1362A>G (p.Lys454=) rs55919657 0.00006
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451 0.00006
NM_000059.4(BRCA2):c.2025A>G (p.Thr675=) rs147381487 0.00006
NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala) rs55968715 0.00006
NM_000059.4(BRCA2):c.2490C>T (p.Asn830=) rs56331088 0.00006
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser) rs28897718 0.00006
NM_000059.4(BRCA2):c.5498A>G (p.Asn1833Ser) rs587782601 0.00006
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 0.00006
NM_000059.4(BRCA2):c.8662C>T (p.Arg2888Cys) rs80359123 0.00006
NM_000071.3(CBS):c.1266G>A (p.Pro422=) rs150146702 0.00006
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434 0.00006
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His) rs377278762 0.00006
NM_000090.4(COL3A1):c.1150-13T>C rs201839712 0.00006
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440 0.00006
NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys) rs761079177 0.00006
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys) rs201361628 0.00006
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) rs144995231 0.00006
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858 0.00006
NM_000162.5(GCK):c.600G>A (p.Val200=) rs773561406 0.00006
NM_000243.3(MEFV):c.2049G>A (p.Ser683=) rs104895092 0.00006
NM_000243.3(MEFV):c.549G>A (p.Pro183=) rs587781035 0.00006
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527 0.00006
NM_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774 0.00006
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 0.00006
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His) rs199473592 0.00006
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=) rs180921875 0.00006
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met) rs62642575 0.00006
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly) rs200325397 0.00006
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val) rs28943590 0.00006
NM_000435.3(NOTCH3):c.120C>G (p.Ala40=) rs146904189 0.00006
NM_000435.3(NOTCH3):c.1840+8C>T rs372100017 0.00006
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316 0.00006
NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu) rs36076514 0.00006
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys) rs3738885 0.00006
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014 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.2604A>G (p.Val868=) rs1800105 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_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_000520.6(HEXA):c.806-7G>A rs770932296 0.00006
NM_000546.6(TP53):c.618G>A (p.Leu206=) rs142813240 0.00006
NM_000546.6(TP53):c.920-17C>A rs911934766 0.00006
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His) rs45517392 0.00006
NM_001018008.2(TPM1):c.695G>A (p.Arg232His) rs730881128 0.00006
NM_001048174.2(MUTYH):c.305-13C>G rs201207780 0.00006
NM_001114753.3(ENG):c.1852+42C>T rs779974705 0.00006
NM_001127222.2(CACNA1A):c.6203G>A (p.Arg2068Gln) rs769040794 0.00006
NM_001134363.3(RBM20):c.3574-7T>G rs397516616 0.00006
NM_001148.6(ANK2):c.7412G>A (p.Ser2471Asn) rs375139170 0.00006
NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln) rs376658420 0.00006
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val) rs727505020 0.00006
NM_001267550.2(TTN):c.105090C>T (p.Asp35030=) rs72629789 0.00006
NM_001267550.2(TTN):c.52199A>C (p.Glu17400Ala) rs773027240 0.00006
NM_001267550.2(TTN):c.67014C>A (p.Asn22338Lys) rs761241302 0.00006
NM_001267550.2(TTN):c.83600C>G (p.Pro27867Arg) rs374119634 0.00006
NM_001267550.2(TTN):c.9348C>G (p.Ile3116Met) rs760230943 0.00006
NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser) rs148607670 0.00006
NM_001375808.2(LPIN2):c.608C>T (p.Ser203Phe) rs144555528 0.00006
NM_001376.5(DYNC1H1):c.13072G>A (p.Ala4358Thr) rs547205132 0.00006
NM_001498.4(GCLC):c.1486G>T (p.Ala496Ser) rs147154581 0.00006
NM_001943.5(DSG2):c.1847C>T (p.Ala616Val) rs375527314 0.00006
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met) rs373994051 0.00006
NM_002769.5(PRSS1):c.508A>G (p.Lys170Glu) rs201550522 0.00006
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805 0.00006
NM_002890.3(RASA1):c.3132T>C (p.Asn1044=) rs149297860 0.00006
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu) rs144547521 0.00006
NM_003072.5(SMARCA4):c.1287G>A (p.Ala429=) rs143600641 0.00006
NM_003242.6(TGFBR2):c.985G>A (p.Ala329Thr) rs148665451 0.00006
NM_003978.5(PSTPIP1):c.1146G>A (p.Ala382=) rs760234757 0.00006
NM_004415.4(DSP):c.7548G>A (p.Arg2516=) rs756527780 0.00006
NM_005188.4(CBL):c.2252-8T>C rs555179188 0.00006
NM_005343.4(HRAS):c.369C>T (p.Arg123=) rs200945755 0.00006
NM_005422.4(TECTA):c.1621G>A (p.Val541Met) rs370652301 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_005633.4(SOS1):c.2225T>C (p.Ile742Thr) rs767494615 0.00006
NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly) rs71524360 0.00006
NM_006231.4(POLE):c.5553-12C>G rs766922669 0.00006
NM_006767.4(LZTR1):c.2232G>A (p.Ala744=) rs139261473 0.00006
NM_006918.5(SC5D):c.442A>G (p.Lys148Glu) rs775350797 0.00006
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=) rs533802049 0.00006
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His) rs55746541 0.00006
NM_007294.4(BRCA1):c.2428A>T (p.Asn810Tyr) rs28897682 0.00006
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923 0.00006
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691 0.00006
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly) rs55874646 0.00006
NM_017668.3(NDE1):c.948-3126G>A rs377410503 0.00006
NM_022489.4(INF2):c.2459G>A (p.Arg820Gln) rs759989953 0.00006
NM_024334.3(TMEM43):c.802C>T (p.Arg268Trp) rs201138253 0.00006
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094 0.00006
NM_032119.4(ADGRV1):c.1684G>T (p.Ala562Ser) rs199636312 0.00006
NM_080680.3(COL11A2):c.2271C>T (p.Gly757=) rs745568808 0.00006
NM_144687.4(NLRP12):c.2183G>A (p.Arg728Gln) rs373285006 0.00006
NM_147127.5(EVC2):c.887G>C (p.Gly296Ala) rs201083070 0.00006
NM_198253.3(TERT):c.-57A>C rs878855297 0.00006
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser) rs765423779 0.00005
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168 0.00005
NM_000037.4(ANK1):c.1197G>A (p.Ala399=) rs756075877 0.00005
NM_000038.6(APC):c.2438A>G (p.Asn813Ser) rs201522866 0.00005
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136 0.00005
NM_000053.4(ATP7B):c.2604C>T (p.Pro868=) rs368902724 0.00005
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827 0.00005
NM_000059.4(BRCA2):c.3539A>G (p.Lys1180Arg) rs28897720 0.00005
NM_000059.4(BRCA2):c.426-37T>A rs81002859 0.00005
NM_000059.4(BRCA2):c.5552T>G (p.Ile1851Ser) rs80358776 0.00005
NM_000059.4(BRCA2):c.7007+18T>A rs377471435 0.00005
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932 0.00005
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr) rs80359052 0.00005
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His) rs80359105 0.00005
NM_000059.4(BRCA2):c.9592T>C (p.Cys3198Arg) rs80359229 0.00005
NM_000059.4(BRCA2):c.9738C>T (p.Ala3246=) rs80359811 0.00005
NM_000090.4(COL3A1):c.1188C>T (p.Gly396=) rs745743884 0.00005
NM_000112.4(SLC26A2):c.1194A>T (p.Val398=) rs886038240 0.00005
NM_000132.4(F8):c.748A>G (p.Met250Val) rs781943293 0.00005
NM_000138.5(FBN1):c.2927G>A (p.Arg976His) rs140954477 0.00005
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035 0.00005
NM_000179.3(MSH6):c.3399T>C (p.Thr1133=) rs61748084 0.00005
NM_000184.2(HBG2):c.122G>A (p.Arg41Lys) rs281864892 0.00005
NM_000219.6(KCNE1):c.139G>A (p.Val47Ile) rs199473353 0.00005
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000257.4(MYH7):c.1323G>A (p.Thr441=) rs397516096 0.00005
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser) rs374222196 0.00005
NM_000384.3(APOB):c.8149G>A (p.Ala2717Thr) rs753292024 0.00005
NM_000431.4(MVK):c.1139A>G (p.His380Arg) rs104895324 0.00005
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_000447.3(PSEN2):c.208G>A (p.Gly70Arg) rs139972151 0.00005
NM_000463.3(UGT1A1):c.1458C>T (p.Tyr486=) rs142077822 0.00005
NM_000463.3(UGT1A1):c.524T>A (p.Leu175Gln) rs72551341 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_000518.4(HBB):c.220G>A (p.Asp74Asn) rs33945705 0.00005
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333 0.00005
NM_000719.7(CACNA1C):c.5931C>T (p.Val1977=) rs757236915 0.00005
NM_001029883.3(PCARE):c.2890G>A (p.Gly964Ser) rs371925633 0.00005
NM_001035.3(RYR2):c.594C>T (p.Asn198=) rs727504676 0.00005
NM_001110556.2(FLNA):c.7067G>A (p.Ser2356Asn) rs782739586 0.00005
NM_001114753.3(ENG):c.689+17G>A rs773103359 0.00005
NM_001145809.2(MYH14):c.3537C>T (p.Ala1179=) rs559356437 0.00005
NM_001148.6(ANK2):c.1177G>A (p.Ala393Thr) rs147458476 0.00005
NM_001148.6(ANK2):c.813T>C (p.His271=) rs774848857 0.00005
NM_001267550.2(TTN):c.14935+9C>T rs544241749 0.00005
NM_001267550.2(TTN):c.39250G>T (p.Val13084Leu) rs72650062 0.00005
NM_001267550.2(TTN):c.47196G>C (p.Val15732=) rs369979598 0.00005
NM_001267550.2(TTN):c.4998A>T (p.Thr1666=) rs139054950 0.00005
NM_001267550.2(TTN):c.51739+14C>A rs727505018 0.00005
NM_001267550.2(TTN):c.57682C>T (p.Arg19228Cys) rs757820671 0.00005
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr) rs727503588 0.00005
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn) rs727503577 0.00005
NM_001267550.2(TTN):c.97156G>A (p.Gly32386Arg) rs758534800 0.00005
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val) rs727503538 0.00005
NM_001457.4(FLNB):c.2096G>A (p.Arg699Gln) rs752842243 0.00005
NM_001457.4(FLNB):c.2965G>A (p.Val989Met) rs76471260 0.00005
NM_002296.4(LBR):c.1324T>C (p.Leu442=) rs61749338 0.00005
NM_002834.5(PTPN11):c.990A>C (p.Thr330=) rs369739920 0.00005
NM_003036.4(SKI):c.994A>G (p.Ile332Val) rs374264201 0.00005
NM_004006.3(DMD):c.145C>T (p.Arg49Cys) rs147548697 0.00005
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn) rs771877780 0.00005
NM_004006.3(DMD):c.8322G>A (p.Leu2774=) rs72466575 0.00005
NM_004304.5(ALK):c.719A>G (p.Tyr240Cys) rs550608288 0.00005
NM_004655.4(AXIN2):c.2140C>T (p.Arg714Trp) rs148765149 0.00005
NM_005359.6(SMAD4):c.1647A>G (p.Gln549=) rs113545983 0.00005
NM_005529.7(HSPG2):c.5075G>T (p.Gly1692Val) rs777795072 0.00005
NM_006231.4(POLE):c.844C>T (p.Pro282Ser) rs138207610 0.00005
NM_006579.3(EBP):c.445A>G (p.Ile149Val) rs782032266 0.00005
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_007078.3(LDB3):c.992C>T (p.Ala331Val) rs368053281 0.00005
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00005
NM_007294.4(BRCA1):c.4653T>C (p.Ser1551=) rs587780863 0.00005
NM_014014.5(SNRNP200):c.4721T>C (p.Ile1574Thr) rs199736893 0.00005
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060 0.00005
NM_032578.4(MYPN):c.2925+20A>C rs200111945 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_194248.3(OTOF):c.2567A>T (p.Asn856Ile) rs752804141 0.00005
NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn) rs759158371 0.00004
NM_000016.6(ACADM):c.388-3T>G rs764942250 0.00004
NM_000016.6(ACADM):c.50G>A (p.Arg17His) rs17848070 0.00004
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866 0.00004
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp) rs771025937 0.00004
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907 0.00004
NM_000037.4(ANK1):c.5600C>T (p.Ala1867Val) rs767580738 0.00004
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala) rs138137162 0.00004
NM_000051.4(ATM):c.-18G>A rs374303671 0.00004
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr) rs587781365 0.00004
NM_000053.4(ATP7B):c.1172C>T (p.Ser391Leu) rs750724856 0.00004
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser) rs587783318 0.00004
NM_000059.4(BRCA2):c.267G>A (p.Pro89=) rs587780648 0.00004
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg) rs80358545 0.00004
NM_000059.4(BRCA2):c.5626G>A (p.Glu1876Lys) rs397507793 0.00004
NM_000059.4(BRCA2):c.5869A>G (p.Ile1957Val) rs80358817 0.00004
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853 0.00004
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met) rs80358866 0.00004
NM_000059.4(BRCA2):c.67+19T>C rs587780865 0.00004
NM_000059.4(BRCA2):c.6739A>G (p.Ser2247Gly) rs80358896 0.00004
NM_000059.4(BRCA2):c.7505G>A (p.Arg2502His) rs56070345 0.00004
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978 0.00004
NM_000059.4(BRCA2):c.8755-19A>G rs398122713 0.00004
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His) rs80359143 0.00004
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu) rs80359228 0.00004
NM_000088.4(COL1A1):c.1930-5T>C rs762377921 0.00004
NM_000138.5(FBN1):c.1602T>C (p.Cys534=) rs377386372 0.00004
NM_000138.5(FBN1):c.2419+13T>A rs372885314 0.00004
NM_000138.5(FBN1):c.6052G>A (p.Val2018Ile) rs363802 0.00004
NM_000142.5(FGFR3):c.985G>A (p.Val329Ile) rs188723332 0.00004
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715 0.00004
NM_000179.3(MSH6):c.3729A>G (p.Thr1243=) rs773807182 0.00004
NM_000238.4(KCNH2):c.2398+156G>A rs139247073 0.00004
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val) rs199473012 0.00004
NM_000243.3(MEFV):c.1587+7G>A rs375555497 0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000243.3(MEFV):c.948C>T (p.His316=) rs150252937 0.00004
NM_000257.4(MYH7):c.12G>A (p.Ser4=) rs45561941 0.00004
NM_000298.6(PKLR):c.1075C>T (p.Arg359Cys) rs138871700 0.00004
NM_000335.5(SCN5A):c.3147C>T (p.Ile1049=) rs867787484 0.00004
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His) rs199473283 0.00004
NM_000335.5(SCN5A):c.5172G>A (p.Pro1724=) rs372629753 0.00004
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp) rs549319429 0.00004
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln) rs121912757 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) rs121918085 0.00004
NM_000384.3(APOB):c.2047G>T (p.Ala683Ser) rs761947252 0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 0.00004
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys) rs769773673 0.00004
NM_000435.3(NOTCH3):c.4875A>C (p.Pro1625=) rs538466132 0.00004
NM_000435.3(NOTCH3):c.6092G>A (p.Arg2031His) rs779314594 0.00004
NM_000455.5(STK11):c.1045G>A (p.Glu349Lys) rs553752236 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.794T>G (p.Met265Arg) rs148519623 0.00004
NM_000517.6(HBA2):c.163C>T (p.Gln55Ter) rs281864840 0.00004
NM_000517.6(HBA2):c.69C>T (p.Gly23=) rs63751457 0.00004
NM_000518.5(HBB):c.-140C>T rs34999973 0.00004
NM_000535.7(PMS2):c.*17G>C rs556089649 0.00004
NM_000535.7(PMS2):c.1197G>A (p.Lys399=) rs757730609 0.00004
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_000546.6(TP53):c.28G>A (p.Val10Ile) rs535274413 0.00004
NM_000558.3(HBA1):c.193G>C (p.Asp65His) rs33984024 0.00004
NM_000719.7(CACNA1C):c.1065G>A (p.Thr355=) rs757055492 0.00004
NM_000719.7(CACNA1C):c.1477C>A (p.Leu493Met) rs376530064 0.00004
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=) rs727504509 0.00004
NM_001005361.3(DNM2):c.1837G>A (p.Val613Met) rs748286191 0.00004
NM_001042492.3(NF1):c.5257G>A (p.Val1753Ile) rs148540952 0.00004
NM_001042492.3(NF1):c.6428-3C>T rs374014162 0.00004
NM_001042492.3(NF1):c.6664A>G (p.Thr2222Ala) rs745945481 0.00004
NM_001110556.2(FLNA):c.1964G>A (p.Arg655His) rs782563602 0.00004
NM_001134407.3(GRIN2A):c.3884T>C (p.Ile1295Thr) rs757351084 0.00004
NM_001142864.4(PIEZO1):c.1646C>T (p.Thr549Met) rs775326454 0.00004
NM_001142864.4(PIEZO1):c.4958G>A (p.Arg1653His) rs992473797 0.00004
NM_001142864.4(PIEZO1):c.7169G>A (p.Arg2390Gln) rs377011269 0.00004
NM_001142864.4(PIEZO1):c.765C>T (p.Phe255=) rs767600698 0.00004
NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter) rs985064686 0.00004
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp) rs778224699 0.00004
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln) rs530537991 0.00004
NM_001267550.2(TTN):c.22575T>A (p.Asp7525Glu) rs200061856 0.00004
NM_001267550.2(TTN):c.24227-15C>T rs397517505 0.00004
NM_001267550.2(TTN):c.27847G>A (p.Val9283Met) rs727504515 0.00004
NM_001267550.2(TTN):c.28924A>G (p.Ser9642Gly) rs367888853 0.00004
NM_001267550.2(TTN):c.31070A>G (p.His10357Arg) rs1343660563 0.00004
NM_001267550.2(TTN):c.31156G>A (p.Glu10386Lys) rs772195716 0.00004
NM_001267550.2(TTN):c.45652C>T (p.Arg15218Trp) rs371621174 0.00004
NM_001267550.2(TTN):c.46591G>A (p.Gly15531Arg) rs761815745 0.00004
NM_001267550.2(TTN):c.55213C>T (p.Arg18405Cys) rs199656264 0.00004
NM_001267550.2(TTN):c.56884C>T (p.Arg18962Trp) rs556286196 0.00004
NM_001267550.2(TTN):c.70570A>G (p.Thr23524Ala) rs369526268 0.00004
NM_001267550.2(TTN):c.70998A>G (p.Thr23666=) rs767989384 0.00004
NM_001267550.2(TTN):c.91749C>T (p.Ser30583=) rs886044458 0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395 0.00004
NM_001376.5(DYNC1H1):c.3961-14A>G rs558548356 0.00004
NM_001376.5(DYNC1H1):c.4484A>G (p.Asn1495Ser) rs566164007 0.00004
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp) rs1350329646 0.00004
NM_001457.4(FLNB):c.1135A>G (p.Ile379Val) rs374118649 0.00004
NM_002230.4(JUP):c.1280C>T (p.Thr427Met) rs781982717 0.00004
NM_002296.4(LBR):c.851C>T (p.Thr284Met) rs371750924 0.00004
NM_002474.3(MYH11):c.5379G>A (p.Gln1793=) rs375230260 0.00004
NM_002485.5(NBN):c.278C>T (p.Ser93Leu) rs12721593 0.00004
NM_002524.5(NRAS):c.291-8G>A rs376187980 0.00004
NM_002529.4(NTRK1):c.1252-6C>G rs776728101 0.00004
NM_003036.4(SKI):c.1258G>A (p.Ala420Thr) rs771862077 0.00004
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His) rs185551386 0.00004
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met) rs150022335 0.00004
NM_003978.5(PSTPIP1):c.687C>T (p.Asn229=) rs542286074 0.00004
NM_004006.3(DMD):c.1848C>A (p.Ser616=) rs376024929 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_004208.4(AIFM1):c.1643C>T (p.Pro548Leu) rs750418813 0.00004
NM_004333.6(BRAF):c.915G>A (p.Ala305=) rs145675911 0.00004
NM_004360.5(CDH1):c.1224G>A (p.Ala408=) rs200161607 0.00004
NM_004360.5(CDH1):c.84C>T (p.Cys28=) rs587780789 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_004984.4(KIF5A):c.341G>A (p.Arg114Gln) rs144277716 0.00004
NM_005359.6(SMAD4):c.1218G>A (p.Ala406=) rs145097078 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_005957.5(MTHFR):c.1129C>T (p.Arg377Cys) rs121434296 0.00004
NM_006005.3(WFS1):c.1743C>T (p.Gly581=) rs377539343 0.00004
NM_006129.5(BMP1):c.2166C>T (p.Phe722=) rs149426277 0.00004
NM_006182.4(DDR2):c.444T>C (p.Tyr148=) rs774706415 0.00004
NM_006579.3(EBP):c.188G>A (p.Arg63Gln) rs782638360 0.00004
NM_007272.3(CTRC):c.493+3G>A rs772436044 0.00004
NM_007294.4(BRCA1):c.1470A>G (p.Pro490=) rs775032066 0.00004
NM_007294.4(BRCA1):c.2884G>A (p.Glu962Lys) rs80356955 0.00004
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175 0.00004
NM_007294.4(BRCA1):c.4036G>A (p.Glu1346Lys) rs80357407 0.00004
NM_007294.4(BRCA1):c.425C>A (p.Pro142His) rs55971303 0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991 0.00004
NM_007294.4(BRCA1):c.4357+17A>G rs80358180 0.00004
NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys) rs41293457 0.00004
NM_007294.4(BRCA1):c.4729T>C (p.Ser1577Pro) rs80356909 0.00004
NM_007294.4(BRCA1):c.5157G>T (p.Val1719=) rs28897697 0.00004
NM_007294.4(BRCA1):c.75C>T (p.Pro25=) rs80356839 0.00004
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg) rs397517231 0.00004
NM_012472.6(DNAAF11):c.2T>A (p.Met1Lys) rs377278570 0.00004
NM_016204.4(GDF2):c.716C>T (p.Thr239Met) rs782560993 0.00004
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283 0.00004
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) rs374545987 0.00004
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met) rs780389237 0.00004
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val) rs537258442 0.00004
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) rs373478248 0.00004
NM_032043.3(BRIP1):c.297C>T (p.Asp99=) rs201617644 0.00004
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640 0.00004
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys) rs765338121 0.00004
NM_080680.3(COL11A2):c.3974C>T (p.Ser1325Leu) rs543145528 0.00004
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile) rs375937729 0.00004
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser) rs372011095 0.00004
NM_194248.3(OTOF):c.3637G>A (p.Gly1213Ser) rs140023414 0.00004
NM_203486.3(DLL3):c.984C>T (p.Val328=) rs138378695 0.00004
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg) rs760977747 0.00004
NM_000016.6(ACADM):c.118+18T>A rs755405418 0.00003
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys) rs398123072 0.00003
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys) rs778906552 0.00003
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys) rs754359356 0.00003
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg) rs747268471 0.00003
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val) rs539029862 0.00003
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105 0.00003
NM_000018.4(ACADVL):c.1182+1G>A rs113690956 0.00003
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met) rs113994169 0.00003
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154 0.00003
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014 0.00003
NM_000038.6(APC):c.7415C>T (p.Ala2472Val) rs200399245 0.00003
NM_000051.4(ATM):c.1332C>A (p.Pro444=) rs763361384 0.00003
NM_000051.4(ATM):c.9006C>T (p.Phe3002=) rs540172506 0.00003
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) rs750019452 0.00003
NM_000059.4(BRCA2):c.1631C>T (p.Thr544Ile) rs80358448 0.00003
NM_000059.4(BRCA2):c.316+12A>G rs186419778 0.00003
NM_000059.4(BRCA2):c.3225T>C (p.Ser1075=) rs779228375 0.00003
NM_000059.4(BRCA2):c.3575T>G (p.Phe1192Cys) rs80358606 0.00003
NM_000059.4(BRCA2):c.5495C>A (p.Ser1832Tyr) rs138489917 0.00003
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=) rs146430937 0.00003
NM_000059.4(BRCA2):c.8421G>A (p.Ser2807=) rs371278843 0.00003
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys) rs45469092 0.00003
NM_000059.4(BRCA2):c.9190G>A (p.Asp3064Asn) rs80359177 0.00003
NM_000059.4(BRCA2):c.9253A>C (p.Thr3085Pro) rs397507423 0.00003
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln) rs781876217 0.00003
NM_000138.5(FBN1):c.1277C>T (p.Pro426Leu) rs146044644 0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814 0.00003
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670 0.00003
NM_000155.4(GALT):c.602G>A (p.Arg201His) rs111033735 0.00003
NM_000175.5(GPI):c.475G>A (p.Gly159Ser) rs137853582 0.00003
NM_000179.3(MSH6):c.-8C>T rs565211544 0.00003
NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile) rs747321794 0.00003
NM_000243.3(MEFV):c.195C>T (p.Tyr65=) rs104895077 0.00003
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg) rs587779965 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser) rs397516302 0.00003
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val) rs111033511 0.00003
NM_000298.6(PKLR):c.401T>A (p.Val134Asp) rs574051756 0.00003
NM_000302.4(PLOD1):c.303-10C>T rs750987724 0.00003
NM_000302.4(PLOD1):c.813C>T (p.Asp271=) rs373471550 0.00003
NM_000314.8(PTEN):c.855A>G (p.Glu285=) rs751888926 0.00003
NM_000335.5(SCN5A):c.1188C>T (p.Val396=) rs749683415 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_000492.4(CFTR):c.1040G>A (p.Arg347His) rs77932196 0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly) rs201124247 0.00003
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys) rs397508463 0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_000517.4(HBA2):c.142G>C (p.Asp48His) rs281864834 0.00003
NM_000517.6(HBA2):c.178G>C (p.Gly60Arg) rs41328049 0.00003
NM_000518.5(HBB):c.-31C>T rs63750628 0.00003
NM_000518.5(HBB):c.316-12T>C rs781604042 0.00003
NM_000518.5(HBB):c.316-28G>A rs771736852 0.00003
NM_000518.5(HBB):c.316-7C>A rs34483965 0.00003
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) rs33962676 0.00003
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000546.6(TP53):c.105G>C (p.Leu35Phe) rs121912661 0.00003
NM_000548.5(TSC2):c.1915C>T (p.Arg639Trp) rs766451267 0.00003
NM_000552.5(VWF):c.2025G>A (p.Pro675=) rs779045480 0.00003
NM_000558.5(HBA1):c.364G>A (p.Val122Met) rs63751008 0.00003
NM_000891.3(KCNJ2):c.359A>C (p.Lys120Thr) rs375646186 0.00003
NM_001003800.2(BICD2):c.1725C>G (p.Pro575=) rs201343832 0.00003
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419 0.00003
NM_001035.3(RYR2):c.13666G>A (p.Ala4556Thr) rs189345192 0.00003
NM_001040151.2(SCN3B):c.60T>G (p.Ser20Arg) rs771342044 0.00003
NM_001042492.3(NF1):c.*4T>C rs201044568 0.00003
NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln) rs560262404 0.00003
NM_001065.4(TNFRSF1A):c.1038C>G (p.His346Gln) rs201994938 0.00003
NM_001110556.2(FLNA):c.4106C>T (p.Thr1369Ile) rs376774130 0.00003
NM_001110556.2(FLNA):c.7649C>T (p.Pro2550Leu) rs371724771 0.00003
NM_001114753.3(ENG):c.1134G>A (p.Ala378=) rs1329127701 0.00003
NM_001127671.2(LIFR):c.2670+6C>G rs898718526 0.00003
NM_001134363.3(RBM20):c.3169C>T (p.Arg1057Trp) rs199830512 0.00003
NM_001142864.4(PIEZO1):c.1207C>T (p.Arg403Trp) rs536446748 0.00003
NM_001142864.4(PIEZO1):c.1442G>A (p.Arg481His) rs947487272 0.00003
NM_001142864.4(PIEZO1):c.6471+9G>A rs761913079 0.00003
NM_001159699.2(FHL1):c.816C>T (p.Ser272=) rs758552293 0.00003
NM_001235.5(SERPINH1):c.565A>G (p.Thr189Ala) rs138784081 0.00003
NM_001267550.2(TTN):c.44367C>T (p.Tyr14789=) rs750270873 0.00003
NM_001267550.2(TTN):c.48164G>A (p.Arg16055His) rs72677238 0.00003
NM_001267550.2(TTN):c.53100T>G (p.Pro17700=) rs373140387 0.00003
NM_001267550.2(TTN):c.62011G>A (p.Glu20671Lys) rs770684884 0.00003
NM_001267550.2(TTN):c.73765T>C (p.Tyr24589His) rs371821218 0.00003
NM_001355436.2(SPTB):c.5279C>T (p.Ala1760Val) rs778913256 0.00003
NM_001355436.2(SPTB):c.5810C>G (p.Ser1937Cys) rs764560431 0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg) rs143312232 0.00003
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=) rs587780841 0.00003
NM_001376.5(DYNC1H1):c.10548C>T (p.Tyr3516=) rs760532492 0.00003
NM_001457.4(FLNB):c.2005A>G (p.Thr669Ala) rs147481678 0.00003
NM_001844.5(COL2A1):c.2410-7C>T rs767041085 0.00003
NM_001849.4(COL6A2):c.2234G>A (p.Arg745Gln) rs768280699 0.00003
NM_001851.6(COL9A1):c.876+1G>C rs202232444 0.00003
NM_001999.4(FBN2):c.195G>A (p.Glu65=) rs750055830 0.00003
NM_002246.3(KCNK3):c.1097C>T (p.Ala366Val) rs773773071 0.00003
NM_002474.3(MYH11):c.444C>T (p.His148=) rs569925780 0.00003
NM_002529.4(NTRK1):c.219C>T (p.Ile73=) rs563296138 0.00003
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp) rs143433437 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_003036.4(SKI):c.1272G>A (p.Pro424=) rs552946737 0.00003
NM_003060.4(SLC22A5):c.523G>A (p.Val175Met) rs781721860 0.00003
NM_003126.4(SPTA1):c.5915C>A (p.Thr1972Asn) rs201463616 0.00003
NM_003482.4(KMT2D):c.7035G>A (p.Leu2345=) rs398123756 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004006.3(DMD):c.3419A>G (p.His1140Arg) rs201297190 0.00003
NM_004006.3(DMD):c.4373T>A (p.Phe1458Tyr) rs777274879 0.00003
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met) rs372316981 0.00003
NM_005458.8(GABBR2):c.664G>A (p.Glu222Lys) rs750467268 0.00003
NM_005529.7(HSPG2):c.2520C>T (p.Asp840=) rs544565016 0.00003
NM_007272.3(CTRC):c.181G>A (p.Gly61Arg) rs769482036 0.00003
NM_007272.3(CTRC):c.356+7G>C rs773334021 0.00003
NM_007272.3(CTRC):c.649G>A (p.Gly217Ser) rs202058123 0.00003
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg) rs80357108 0.00003
NM_007294.4(BRCA1):c.3362A>G (p.Asn1121Ser) rs80356919 0.00003
NM_007294.4(BRCA1):c.4096+30C>T rs369055904 0.00003
NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg) rs80357079 0.00003
NM_007294.4(BRCA1):c.5152+15A>G rs750905289 0.00003
NM_007294.4(BRCA1):c.594-2A>C rs80358033 0.00003
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly) rs55680408 0.00003
NM_007294.4(BRCA1):c.81-6T>C rs80358179 0.00003
NM_017617.5(NOTCH1):c.3510+3G>A rs372739350 0.00003
NM_017780.4(CHD7):c.6771C>T (p.Pro2257=) rs367615733 0.00003
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_024009.3(GJB3):c.589G>A (p.Val197Ile) rs376506263 0.00003
NM_032119.4(ADGRV1):c.1094A>G (p.Asp365Gly) rs779719772 0.00003
NM_032601.4(MCEE):c.178A>C (p.Lys60Gln) rs147401037 0.00003
NM_080680.3(COL11A2):c.3173C>T (p.Pro1058Leu) rs562253142 0.00003
NM_170707.4(LMNA):c.1381-13A>G rs750192865 0.00003
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834 0.00003
NC_000011.10:g.5227261C>T rs753344875 0.00002
NM_000016.6(ACADM):c.158G>A (p.Arg53His) rs754938068 0.00002
NM_000016.6(ACADM):c.238A>G (p.Arg80Gly) rs758476299 0.00002
NM_000016.6(ACADM):c.580A>G (p.Asn194Asp) rs773677327 0.00002
NM_000016.6(ACADM):c.757G>A (p.Glu253Lys) rs768884003 0.00002
NM_000016.6(ACADM):c.984del (p.Met328fs) rs747610156 0.00002
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689 0.00002
NM_000018.4(ACADVL):c.1679-6G>A rs113994171 0.00002
NM_000018.4(ACADVL):c.485G>A (p.Arg162His) rs754756970 0.00002
NM_000051.4(ATM):c.2085G>A (p.Leu695=) rs786202229 0.00002
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val) rs1555291801 0.00002
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300 0.00002
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val) rs371840514 0.00002
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro) rs568009639 0.00002
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met) rs55853199 0.00002
NM_000059.4(BRCA2):c.10240A>G (p.Thr3414Ala) rs80358405 0.00002
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709 0.00002
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser) rs80358463 0.00002
NM_000059.4(BRCA2):c.183A>G (p.Leu61=) rs776638534 0.00002
NM_000059.4(BRCA2):c.2484T>C (p.Tyr828=) rs45619134 0.00002
NM_000059.4(BRCA2):c.3310A>C (p.Thr1104Pro) rs80358577 0.00002
NM_000059.4(BRCA2):c.3916G>A (p.Val1306Ile) rs80358636 0.00002
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp) rs80358703 0.00002
NM_000059.4(BRCA2):c.5167A>G (p.Thr1723Ala) rs80358742 0.00002
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr) rs80358822 0.00002
NM_000059.4(BRCA2):c.708T>C (p.His236=) rs185506536 0.00002
NM_000059.4(BRCA2):c.7317A>G (p.Gly2439=) rs587780660 0.00002
NM_000059.4(BRCA2):c.794-11T>C rs81002822 0.00002
NM_000059.4(BRCA2):c.800G>A (p.Gly267Glu) rs80359036 0.00002
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu) rs80359241 0.00002
NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser) rs76635144 0.00002
NM_000093.5(COL5A1):c.4794C>T (p.Gly1598=) rs863223481 0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000132.4(F8):c.5123G>A (p.Arg1708His) rs111033614 0.00002
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg) rs1413737899 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000238.4(KCNH2):c.2887C>A (p.Pro963Thr) rs199473014 0.00002
NM_000249.4(MLH1):c.303T>G (p.Gly101=) rs4647220 0.00002
NM_000335.5(SCN5A):c.2976C>T (p.Pro992=) rs193922725 0.00002
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val) rs199473266 0.00002
NM_000335.5(SCN5A):c.453C>T (p.His151=) rs199996750 0.00002
NM_000365.6(TPI1):c.543+5C>G rs782153322 0.00002
NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys) rs72547566 0.00002
NM_000384.3(APOB):c.7727G>A (p.Arg2576His) rs759057929 0.00002
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380 0.00002
NM_000463.3(UGT1A1):c.1175C>T (p.Pro392Leu) rs886043066 0.00002
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) rs121908753 0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758 0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_000517.6(HBA2):c.*103G>A rs1363099908 0.00002
NM_000517.6(HBA2):c.64G>C (p.Ala22Pro) rs281864817 0.00002
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489 0.00002
NM_000518.5(HBB):c.170G>A (p.Gly57Asp) rs34439278 0.00002
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496 0.00002
NM_000518.5(HBB):c.359G>A (p.Gly120Asp) rs33947020 0.00002
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040 0.00002
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met) rs567102013 0.00002
NM_000546.6(TP53):c.665C>T (p.Pro222Leu) rs146340390 0.00002
NM_000548.5(TSC2):c.5311C>G (p.Pro1771Ala) rs777006583 0.00002
NM_001035.3(RYR2):c.1022G>C (p.Gly341Ala) rs565413020 0.00002
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) rs782129236 0.00002
NM_001110556.2(FLNA):c.4503C>T (p.Asp1501=) rs1324926264 0.00002
NM_001114134.2(EPB42):c.1041G>T (p.Gln347His) rs574359460 0.00002
NM_001148.6(ANK2):c.11182G>A (p.Val3728Ile) rs773907372 0.00002
NM_001267550.2(TTN):c.26599G>A (p.Gly8867Arg) rs762113080 0.00002
NM_001267550.2(TTN):c.53261T>C (p.Phe17754Ser) rs749312983 0.00002
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776 0.00002
NM_001291415.2(KDM6A):c.4255G>A (p.Gly1419Arg) rs370298215 0.00002
NM_001355436.2(SPTB):c.4291C>T (p.Arg1431Ter) rs757836263 0.00002
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys) rs979416826 0.00002
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile) rs370918918 0.00002
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367 0.00002
NM_001377.3(DYNC2H1):c.4127+10A>G rs369188420 0.00002
NM_001457.4(FLNB):c.1628T>C (p.Val543Ala) rs773177128 0.00002
NM_001457.4(FLNB):c.1897A>G (p.Met633Val) rs937051879 0.00002
NM_001844.5(COL2A1):c.157C>G (p.Arg53Gly) rs776744207 0.00002
NM_001999.4(FBN2):c.1194C>T (p.Ile398=) rs766004910 0.00002
NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=) rs201760315 0.00002
NM_002230.4(JUP):c.1784C>T (p.Ser595Leu) rs782130740 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_003036.4(SKI):c.2013G>A (p.Gln671=) rs1040803635 0.00002
NM_003126.4(SPTA1):c.1124T>C (p.Phe375Ser) rs929328527 0.00002
NM_003126.4(SPTA1):c.209T>G (p.Met70Arg) rs1469938477 0.00002
NM_003482.4(KMT2D):c.4865G>C (p.Gly1622Ala) rs377457393 0.00002
NM_003978.5(PSTPIP1):c.586G>A (p.Ala196Thr) rs758911910 0.00002
NM_004006.3(DMD):c.10677T>C (p.Ile3559=) rs765950547 0.00002
NM_004082.5(DCTN1):c.3699+16G>A rs747490958 0.00002
NM_005548.3(KARS1):c.1695+4C>T rs747781002 0.00002
NM_005751.5(AKAP9):c.6046C>T (p.Arg2016Cys) rs376950905 0.00002
NM_005802.5(TOPORS):c.1365G>A (p.Thr455=) rs780866628 0.00002
NM_006031.6(PCNT):c.7045G>C (p.Ala2349Pro) rs772025323 0.00002
NM_006231.4(POLE):c.4872G>A (p.Trp1624Ter) rs754982151 0.00002
NM_006363.6(SEC23B):c.1512-10G>T rs770601333 0.00002
NM_006939.4(SOS2):c.3547C>T (p.Pro1183Ser) rs139401491 0.00002
NM_007272.3(CTRC):c.494-13A>G rs762842599 0.00002
NM_007294.4(BRCA1):c.3636A>G (p.Ser1212=) rs148038877 0.00002
NM_007294.4(BRCA1):c.3699A>G (p.Lys1233=) rs368690455 0.00002
NM_007294.4(BRCA1):c.4097-11T>C rs80358072 0.00002
NM_007294.4(BRCA1):c.4676-7C>T rs80358005 0.00002
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln) rs397507239 0.00002
NM_007294.4(BRCA1):c.5153-6C>A rs80358129 0.00002
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322 0.00002
NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys) rs149753643 0.00002
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=) rs767613486 0.00002
NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn) rs369501114 0.00002
NM_032409.3(PINK1):c.434C>T (p.Thr145Met) rs45604240 0.00002
NM_053025.4(MYLK):c.5155C>T (p.Leu1719=) rs1057523680 0.00002
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln) rs371265106 0.00002
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg) rs199751308 0.00002
NM_080680.3(COL11A2):c.5170C>T (p.Arg1724Trp) rs762351406 0.00002
NM_170707.4(LMNA):c.1098G>A (p.Lys366=) rs57901307 0.00002
NM_206933.4(USH2A):c.15520-1G>A rs767265734 0.00002
NM_000016.6(ACADM):c.1052C>T (p.Thr351Ile) rs766140986 0.00001
NM_000016.6(ACADM):c.1115C>A (p.Ala372Asp) rs781424858 0.00001
NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr) rs875989859 0.00001
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile) rs121434283 0.00001
NM_000016.6(ACADM):c.395C>G (p.Pro132Arg) rs875989854 0.00001
NM_000016.6(ACADM):c.447G>T (p.Met149Ile) rs121434277 0.00001
NM_000016.6(ACADM):c.464T>C (p.Met155Thr) rs875989876 0.00001
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala) rs745844469 0.00001
NM_000016.6(ACADM):c.599+1G>A rs866388216 0.00001
NM_000016.6(ACADM):c.599+5G>A rs875989861 0.00001
NM_000016.6(ACADM):c.609A>C (p.Leu203Phe) rs751829413 0.00001
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys) rs373715782 0.00001
NM_000016.6(ACADM):c.661G>A (p.Gly221Arg) rs753627680 0.00001
NM_000016.6(ACADM):c.728G>A (p.Arg243Gln) rs373852490 0.00001
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg) rs398123079 0.00001
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser) rs758928307 0.00001
NM_000018.4(ACADVL):c.1183-15A>G rs765390290 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.1375C>T (p.Arg459Trp) rs766742117 0.00001
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu) rs200366828 0.00001
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170 0.00001
NM_000018.4(ACADVL):c.1540G>A (p.Gly514Arg) rs370282954 0.00001
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu) rs1085307648 0.00001
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp) rs1057520088 0.00001
NM_000018.4(ACADVL):c.497_498del (p.Ile166fs) rs1057516369 0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791 0.00001
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807 0.00001
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro) rs398123090 0.00001
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg) rs398123091 0.00001
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly) rs749159573 0.00001
NM_000018.4(ACADVL):c.753-2A>C rs398123092 0.00001
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371 0.00001
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284 0.00001
NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln) rs1085307426 0.00001
NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp) rs1085307405 0.00001
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931 0.00001
NM_000038.6(APC):c.7143A>C (p.Gln2381His) rs756153152 0.00001
NM_000051.4(ATM):c.2251-10T>G rs730881346 0.00001
NM_000051.4(ATM):c.2467-7C>T rs768850329 0.00001
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys) rs201780199 0.00001
NM_000051.4(ATM):c.372C>A (p.Ile124=) rs773495195 0.00001
NM_000053.4(ATP7B):c.2029G>A (p.Glu677Lys) rs2277447 0.00001
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) rs751202110 0.00001
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met) rs121907997 0.00001
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) rs751710854 0.00001
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg) rs193922104 0.00001
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu) rs201038679 0.00001
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter) rs753250853 0.00001
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser) rs761632029 0.00001
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) rs786204547 0.00001
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=) rs375007352 0.00001
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110 0.00001
NM_000053.4(ATP7B):c.51+4A>T rs369488210 0.00001
NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly) rs80358389 0.00001
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393 0.00001
NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln) rs371454630 0.00001
NM_000059.4(BRCA2):c.116C>T (p.Ala39Val) rs398122724 0.00001
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys) rs587782535 0.00001
NM_000059.4(BRCA2):c.2817C>T (p.Thr939=) rs367921107 0.00001
NM_000059.4(BRCA2):c.3326C>T (p.Ala1109Val) rs41293479 0.00001
NM_000059.4(BRCA2):c.3672C>T (p.Gly1224=) rs587780650 0.00001
NM_000059.4(BRCA2):c.4271C>G (p.Ser1424Cys) rs80358664 0.00001
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys) rs80358684 0.00001
NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn) rs80358694 0.00001
NM_000059.4(BRCA2):c.5427C>T (p.Cys1809=) rs80359791 0.00001
NM_000059.4(BRCA2):c.6531T>A (p.Ile2177=) rs587780658 0.00001
NM_000059.4(BRCA2):c.6675A>G (p.Thr2225=) rs28897741 0.00001
NM_000059.4(BRCA2):c.7436-4A>G rs81002904 0.00001
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340 0.00001
NM_000059.4(BRCA2):c.7871A>G (p.Tyr2624Cys) rs431825358 0.00001
NM_000059.4(BRCA2):c.8124T>G (p.Thr2708=) rs587780662 0.00001
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys) rs80359064 0.00001
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071 0.00001
NM_000059.4(BRCA2):c.8331+14C>T rs1287378096 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000059.4(BRCA2):c.8352G>T (p.Arg2784=) rs747664806 0.00001
NM_000059.4(BRCA2):c.8356G>A (p.Ala2786Thr) rs80359077 0.00001
NM_000059.4(BRCA2):c.8488-19G>A rs398122607 0.00001
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104 0.00001
NM_000059.4(BRCA2):c.927A>G (p.Ser309=) rs80359806 0.00001
NM_000059.4(BRCA2):c.9493A>G (p.Thr3165Ala) rs587782568 0.00001
NM_000059.4(BRCA2):c.9509A>G (p.Asp3170Gly) rs80359224 0.00001
NM_000059.4(BRCA2):c.9583A>G (p.Thr3195Ala) rs80359227 0.00001
NM_000090.4(COL3A1):c.3166G>A (p.Gly1056Ser) rs1223008559 0.00001
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser) rs778886174 0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val) rs775373641 0.00001
NM_000093.5(COL5A1):c.2845-8G>A rs775063630 0.00001
NM_000132.4(F8):c.1660A>G (p.Ser554Gly) rs137852419 0.00001
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln) rs1490417405 0.00001
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser) rs200433372 0.00001
NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys) rs137852459 0.00001
NM_000132.4(F8):c.6967C>T (p.Arg2323Cys) rs137852473 0.00001
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln) rs137852360 0.00001
NM_000138.5(FBN1):c.1289C>T (p.Pro430Leu) rs771134832 0.00001
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys) rs1439487763 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000138.5(FBN1):c.75G>A (p.Ala25=) rs543230518 0.00001
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304 0.00001
NM_000155.4(GALT):c.241G>C (p.Ala81Pro) rs111033665 0.00001
NM_000155.4(GALT):c.593T>C (p.Ile198Thr) rs1483461355 0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217 0.00001
NM_000155.4(GALT):c.961C>T (p.His321Tyr) rs367543266 0.00001
NM_000157.4(GBA1):c.604C>T (p.Arg202Ter) rs1009850780 0.00001
NM_000179.3(MSH6):c.2940A>G (p.Glu980=) rs730881818 0.00001
NM_000179.3(MSH6):c.81C>G (p.Ala27=) rs781496151 0.00001
NM_000218.3(KCNQ1):c.698T>C (p.Leu233Pro) rs780236727 0.00001
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp) rs120074194 0.00001
NM_000238.4(KCNH2):c.473-5C>T rs1181633993 0.00001
NM_000243.3(MEFV):c.2166G>A (p.Val722=) rs762351424 0.00001
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) rs63749909 0.00001
NM_000251.3(MSH2):c.2006-4G>A rs369853630 0.00001
NM_000255.4(MMUT):c.1276G>A (p.Gly426Arg) rs769922244 0.00001
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) rs727503167 0.00001
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089 0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161 0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000289.6(PFKM):c.888G>A (p.Leu296=) rs753083173 0.00001
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter) rs1578130676 0.00001
NM_000297.4(PKD2):c.1319+1G>A rs1131692280 0.00001
NM_000297.4(PKD2):c.1898+5G>A rs1553926929 0.00001
NM_000297.4(PKD2):c.2295T>C (p.Asp765=) rs138982773 0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 0.00001
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr) rs1358047518 0.00001
NM_000298.6(PKLR):c.187G>A (p.Ala63Thr) rs1165604977 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.78C>T (p.Thr26=) rs786201280 0.00001
NM_000326.5(RLBP1):c.141+2T>C rs760650165 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000342.4(SLC4A1):c.2055C>T (p.Thr685=) rs375136281 0.00001
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg) rs61751412 0.00001
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070 0.00001
NM_000371.4(TTR):c.408T>C (p.Tyr136=) rs1454790119 0.00001
NM_000371.4(TTR):c.70-16T>C rs759512847 0.00001
NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys) rs745721296 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000435.3(NOTCH3):c.2209G>A (p.Ala737Thr) rs754815179 0.00001
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys) rs1167405466 0.00001
NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr) rs1266914122 0.00001
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) rs28933697 0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 0.00001
NM_000451.4(SHOX):c.723C>T (p.Phe241=) rs886042718 0.00001
NM_000463.3(UGT1A1):c.923G>A (p.Gly308Glu) rs62625011 0.00001
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val) rs766656419 0.00001
NM_000478.6(ALPL):c.299C>T (p.Thr100Met) rs1201942473 0.00001
NM_000492.4(CFTR):c.1209+7A>T rs767301152 0.00001
NM_000492.4(CFTR):c.164+12T>C rs121908790 0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201 0.00001
NM_000492.4(CFTR):c.2055A>G (p.Gln685=) rs1457520634 0.00001
NM_000492.4(CFTR):c.2280G>A (p.Thr760=) rs138634146 0.00001
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly) rs397508375 0.00001
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe) rs141033578 0.00001
NM_000492.4(CFTR):c.3083T>G (p.Met1028Arg) rs397508494 0.00001
NM_000492.4(CFTR):c.3139+8A>G rs193922517 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000492.4(CFTR):c.3368-20C>T rs761144879 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 0.00001
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp) rs397508609 0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) rs397508763 0.00001
NM_000517.6(HBA2):c.146T>G (p.Leu49Arg) rs41392146 0.00001
NM_000517.6(HBA2):c.307A>C (p.Ser103Arg) rs41321052 0.00001
NM_000517.6(HBA2):c.377T>G (p.Leu126Arg) rs41397847 0.00001
NM_000517.6(HBA2):c.391G>C (p.Ala131Pro) rs41529844 0.00001
NM_000517.6(HBA2):c.98T>G (p.Met33Arg) rs1468615416 0.00001
NM_000518.4(HBB):c.23A>G (p.Glu8Gly) rs34387455 0.00001
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486 0.00001
NM_000518.4(HBB):c.430C>T (p.His144Tyr) rs33929415 0.00001
NM_000518.4(HBB):c.44T>C (p.Leu15Pro) rs33935445 0.00001
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254 0.00001
NM_000518.5(HBB):c.*74A>G rs369101035 0.00001
NM_000518.5(HBB):c.-122T>A rs1272414751 0.00001
NM_000518.5(HBB):c.122G>A (p.Arg41Lys) rs34831026 0.00001
NM_000518.5(HBB):c.131A>C (p.Glu44Ala) rs35262412 0.00001
NM_000518.5(HBB):c.209G>A (p.Gly70Asp) rs34718174 0.00001
NM_000518.5(HBB):c.274C>T (p.Leu92=) rs769583496 0.00001
NM_000518.5(HBB):c.286A>G (p.Lys96Glu) rs33914359 0.00001
NM_000518.5(HBB):c.341T>A (p.Val114Glu) rs34484056 0.00001
NM_000518.5(HBB):c.353A>G (p.His118Arg) rs33935673 0.00001
NM_000518.5(HBB):c.380T>C (p.Val127Ala) rs33925391 0.00001
NM_000518.5(HBB):c.61G>A (p.Val21Met) rs35890959 0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370 0.00001
NM_000530.8(MPZ):c.186C>G (p.Ile62Met) rs121913605 0.00001
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099 0.00001
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627 0.00001
NM_000530.8(MPZ):c.646-3C>G rs750756212 0.00001
NM_000535.7(PMS2):c.1144+1G>A rs373885654 0.00001
NM_000541.5(SAG):c.511A>G (p.Lys171Glu) rs552862207 0.00001
NM_000548.5(TSC2):c.3366T>C (p.Arg1122=) rs778352969 0.00001
NM_000548.5(TSC2):c.849-8A>G rs765336852 0.00001
NM_000552.5(VWF):c.2278C>T (p.Arg760Cys) rs61748466 0.00001
NM_000552.5(VWF):c.3944G>A (p.Arg1315His) rs61749396 0.00001
NM_000558.3(HBA1):c.341T>A (p.Leu114His) rs35654345 0.00001
NM_000558.3(HBA1):c.389T>C (p.Leu130Pro) rs35993655 0.00001
NM_000558.5(HBA1):c.337C>G (p.His113Asp) rs34830032 0.00001
NM_000558.5(HBA1):c.62A>C (p.His21Pro) rs33943087 0.00001
NM_000558.5(HBA1):c.63C>A (p.His21Gln) rs281864502 0.00001
NM_000719.7(CACNA1C):c.6019G>A (p.Ala2007Thr) rs750411964 0.00001
NM_000719.7(CACNA1C):c.609G>A (p.Val203=) rs1417477759 0.00001
NM_001003800.2(BICD2):c.1376C>T (p.Thr459Met) rs777065935 0.00001
NM_001005242.3(PKP2):c.1379-2A>T rs1453983744 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.3974+9T>A rs368586596 0.00001
NM_001042492.3(NF1):c.475A>G (p.Thr159Ala) rs371192107 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val) rs565708398 0.00001
NM_001065.4(TNFRSF1A):c.482A>G (p.Lys161Arg) rs578112440 0.00001
NM_001081.4(CUBN):c.4268C>T (p.Thr1423Met) rs483352704 0.00001
NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys) rs781878646 0.00001
NM_001114753.3(ENG):c.1273-5C>T rs779103881 0.00001
NM_001114753.3(ENG):c.1585C>T (p.Arg529Cys) rs745316066 0.00001
NM_001114753.3(ENG):c.633C>T (p.Gly211=) rs928192105 0.00001
NM_001114753.3(ENG):c.943G>A (p.Val315Met) rs763508329 0.00001
NM_001142864.4(PIEZO1):c.3740T>G (p.Phe1247Cys) rs907173644 0.00001
NM_001142864.4(PIEZO1):c.5619T>C (p.Phe1873=) rs1433038327 0.00001
NM_001142864.4(PIEZO1):c.645C>G (p.His215Gln) rs559847737 0.00001
NM_001142864.4(PIEZO1):c.7130-5C>A rs1357808025 0.00001
NM_001191061.2(SLC25A22):c.735_736del (p.Pro245_Cys246insTer) rs796053242 0.00001
NM_001267550.2(TTN):c.10303+2T>C rs371596417 0.00001
NM_001267550.2(TTN):c.19036G>A (p.Val6346Met) rs537966944 0.00001
NM_001267550.2(TTN):c.34601T>C (p.Leu11534Pro) rs376836503 0.00001
NM_001267550.2(TTN):c.51527G>C (p.Gly17176Ala) rs768961892 0.00001
NM_001267550.2(TTN):c.52409C>A (p.Pro17470Gln) rs372618781 0.00001
NM_001267550.2(TTN):c.583+5G>A rs397517663 0.00001
NM_001267550.2(TTN):c.65794G>A (p.Gly21932Arg) rs373636513 0.00001
NM_001267550.2(TTN):c.77166T>C (p.Pro25722=) rs757252494 0.00001
NM_001267550.2(TTN):c.84398A>G (p.Asn28133Ser) rs727505053 0.00001
NM_001267550.2(TTN):c.87600G>C (p.Met29200Ile) rs750362675 0.00001
NM_001278116.2(L1CAM):c.726G>T (p.Leu242=) rs200813995 0.00001
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu) rs80338855 0.00001
NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=) rs201990547 0.00001
NM_001370466.1(NOD2):c.565+1G>A rs766614906 0.00001
NM_001370658.1(BTD):c.425C>T (p.Ala142Val) rs397514364 0.00001
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) rs397507175 0.00001
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382 0.00001
NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys) rs397514637 0.00001
NM_001379610.1(SPINK1):c.1A>T (p.Met1Leu) rs369163833 0.00001
NM_001457.4(FLNB):c.1808C>T (p.Ser603Leu) rs764538938 0.00001
NM_001457.4(FLNB):c.2356C>T (p.Arg786Trp) rs201452322 0.00001
NM_001457.4(FLNB):c.4774G>A (p.Val1592Ile) rs754360853 0.00001
NM_001457.4(FLNB):c.6211G>A (p.Val2071Ile) rs201831615 0.00001
NM_001498.4(GCLC):c.1632C>T (p.Asn544=) rs913611013 0.00001
NM_001754.5(RUNX1):c.1396A>T (p.Met466Leu) rs762213305 0.00001
NM_001844.5(COL2A1):c.1505C>T (p.Pro502Leu) rs904660062 0.00001
NM_001844.5(COL2A1):c.4326C>T (p.Thr1442=) rs201223454 0.00001
NM_001999.4(FBN2):c.2042G>A (p.Arg681His) rs548605398 0.00001
NM_001999.4(FBN2):c.4690T>C (p.Leu1564=) rs886038504 0.00001
NM_002474.3(MYH11):c.2997+10G>T rs886051760 0.00001
NM_002691.4(POLD1):c.203G>A (p.Gly68Glu) rs144707871 0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003000.3(SDHB):c.221A>C (p.Asp74Ala) rs876658713 0.00001
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys) rs587778661 0.00001
NM_003072.5(SMARCA4):c.3846C>T (p.Asn1282=) rs776413354 0.00001
NM_003126.4(SPTA1):c.4339-2A>C rs368931075 0.00001
NM_003126.4(SPTA1):c.6631C>T (p.Arg2211Cys) rs773800556 0.00001
NM_003482.4(KMT2D):c.10410G>T (p.Leu3470=) rs747438612 0.00001
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817 0.00001
NM_003978.5(PSTPIP1):c.493G>A (p.Gly165Ser) rs762291063 0.00001
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro) rs111033361 0.00001
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_004006.3(DMD):c.6140A>G (p.Gln2047Arg) rs773782786 0.00001
NM_004006.3(DMD):c.8508C>T (p.Gly2836=) rs374374549 0.00001
NM_004211.5(SLC6A5):c.1640T>C (p.Phe547Ser) rs772652517 0.00001
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr) rs562015789 0.00001
NM_004444.5(EPHB4):c.2512C>T (p.Arg838Trp) rs764827256 0.00001
NM_004655.4(AXIN2):c.2405+7G>A rs373593841 0.00001
NM_005214.5(CTLA4):c.209G>A (p.Arg70Gln) rs1581573705 0.00001
NM_005340.7(HINT1):c.284G>A (p.Arg95Gln) rs373197800 0.00001
NM_005359.6(SMAD4):c.325C>T (p.Leu109=) rs1248541873 0.00001
NM_005359.6(SMAD4):c.693C>T (p.Gly231=) rs765597059 0.00001
NM_005529.7(HSPG2):c.8017C>T (p.Arg2673Ter) rs745338204 0.00001
NM_005591.4(MRE11):c.1225+10T>G rs863224734 0.00001
NM_005751.5(AKAP9):c.4709C>T (p.Ser1570Leu) rs121908566 0.00001
NM_006031.6(PCNT):c.5975C>T (p.Pro1992Leu) rs758977418 0.00001
NM_006363.6(SEC23B):c.1873C>A (p.Leu625Ile) rs368458175 0.00001
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) rs119482083 0.00001
NM_006892.4(DNMT3B):c.2348_2349del (p.Gln783fs) rs1368779496 0.00001
NM_007194.4(CHEK2):c.661A>G (p.Ile221Val) rs199749372 0.00001
NM_007272.3(CTRC):c.230+7G>A rs754126755 0.00001
NM_007272.3(CTRC):c.595A>T (p.Thr199Ser) rs751977111 0.00001
NM_007294.4(BRCA1):c.212+3A>G rs80358083 0.00001
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu) rs80356927 0.00001
NM_007294.4(BRCA1):c.3327A>C (p.Lys1109Asn) rs41293449 0.00001
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile) rs56336919 0.00001
NM_007294.4(BRCA1):c.4097-10G>A rs80358057 0.00001
NM_007294.4(BRCA1):c.4204C>T (p.His1402Tyr) rs80357365 0.00001
NM_007294.4(BRCA1):c.4485-8C>T rs397507234 0.00001
NM_007294.4(BRCA1):c.4635C>T (p.His1545=) rs373686790 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5152+10A>G rs80358114 0.00001
NM_007294.4(BRCA1):c.5456A>G (p.Asn1819Ser) rs80357286 0.00001
NM_007294.4(BRCA1):c.593+9A>G rs80358133 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_014249.4(NR2E3):c.1007T>C (p.Leu336Pro) rs752883545 0.00001
NM_014804.3(KIAA0753):c.1891A>T (p.Lys631Ter) rs886038200 0.00001
NM_015915.5(ATL1):c.1247G>A (p.Arg416His) rs1395551564 0.00001
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys) rs193302867 0.00001
NM_020320.5(RARS2):c.1406G>A (p.Arg469His) rs759331139 0.00001
NM_020975.6(RET):c.1890C>T (p.Cys630=) rs781145070 0.00001
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) rs374997012 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022787.4(NMNAT1):c.471A>G (p.Ala157=) rs373788044 0.00001
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg) rs756778249 0.00001
NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr) rs763191051 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter) rs757641323 0.00001
NM_032119.4(ADGRV1):c.17276A>G (p.Asn5759Ser) rs375445058 0.00001
NM_032119.4(ADGRV1):c.690A>C (p.Glu230Asp) rs397517434 0.00001
NM_033056.4(PCDH15):c.5839C>T (p.Gln1947Ter) rs1457208099 0.00001
NM_053025.4(MYLK):c.2388C>T (p.Leu796=) rs193007255 0.00001
NM_054012.4(ASS1):c.174+1G>T rs748264993 0.00001
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter) rs121908645 0.00001
NM_080680.3(COL11A2):c.5121G>T (p.Gln1707His) rs138667578 0.00001
NM_144687.4(NLRP12):c.654G>A (p.Ala218=) rs745766441 0.00001
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys) rs397517880 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_182961.4(SYNE1):c.26106G>A (p.Lys8702=) rs765865910 0.00001
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287 0.00001
NC_000010.11:g.71645832del rs1589292855
NC_012920.1(MT-TS2):m.12236G>A rs28359170
NC_012920.1:m.14484T>C rs199476104
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs) rs387906297
NM_000016.6(ACADM):c.118+114A>G rs875989868
NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter) rs754833969
NM_000016.6(ACADM):c.346T>G (p.Cys116Gly) rs875989863
NM_000016.6(ACADM):c.387+1del rs786204424
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del) rs875989857
NM_000016.6(ACADM):c.449_452del (p.Thr150fs) rs786204642
NM_000016.6(ACADM):c.526G>A (p.Ala176Thr) rs200754053
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser) rs200754053
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn) rs149678400
NM_000016.6(ACADM):c.755T>G (p.Phe252Cys) rs780510026
NM_000016.6(ACADM):c.817_829del (p.Ala273fs) rs875989872
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr) rs779759347
NM_000016.6(ACADM):c.957_958del (p.Ser320fs) rs1057517103
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val) rs934797393
NM_000018.4(ACADVL):c.1039del (p.Ala347fs) rs2071295244
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del) rs754325237
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg) rs886043236
NM_000018.4(ACADVL):c.1384G>A (p.Glu462Lys) rs2071355499
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000018.4(ACADVL):c.1613G>C (p.Arg538Pro) rs201350598
NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp) rs781613690
NM_000018.4(ACADVL):c.1678+3_1678+6del rs759135941
NM_000018.4(ACADVL):c.1878G>A (p.Trp626Ter) rs1555529186
NM_000018.4(ACADVL):c.1882del (p.Gln628fs) rs1597541142
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter) rs765432568
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs) rs786204713
NM_000018.4(ACADVL):c.343del rs387906249
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del) rs387906251
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del) rs796051920
NM_000018.4(ACADVL):c.533T>C (p.Leu178Pro) rs1131691808
NM_000018.4(ACADVL):c.605T>A (p.Leu202His) rs398123090
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro) rs768975918
NM_000018.4(ACADVL):c.623-1G>A rs1597526782
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr) rs140629318
NM_000018.4(ACADVL):c.664G>C (p.Gly222Arg) rs398123091
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000018.4(ACADVL):c.869dup (p.Ile291fs) rs886044671
NM_000018.4(ACADVL):c.889_891del (p.Glu297del) rs796051914
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del) rs387906252
NM_000018.4(ACADVL):c.932del (p.Phe311fs) rs764488310
NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter) rs149467828
NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp) rs1085307415
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser) rs959973779
NM_000020.3(ACVRL1):c.1219G>A (p.Glu407Lys) rs1057521203
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu) rs2139084385
NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg) rs1555152520
NM_000020.3(ACVRL1):c.590C>A (p.Thr197Lys) rs1555152796
NM_000020.3(ACVRL1):c.626-3C>G rs1555152899
NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp) rs28936687
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu) rs762773076
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys) rs1592223490
NM_000020.3(ACVRL1):c.760_762del (p.Asp254del) rs387906393
NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro) rs1565594217
NM_000020.3(ACVRL1):c.914C>T (p.Ser305Phe) rs1555153126
NM_000020.3(ACVRL1):c.979G>C (p.Ala327Pro) rs1940810597
NM_000021.4(PSEN1):c.703C>G (p.Leu235Val) rs63751130
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln) rs128624219
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
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.1772G>A (p.Arg591Gln) rs1557054873
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000037.4(ANK1):c.1702-2A>G rs1554567249
NM_000037.4(ANK1):c.1801-17G>A rs786205243
NM_000037.4(ANK1):c.409C>T (p.Gln137Ter) rs2150661792
NM_000037.4(ANK1):c.965G>T (p.Arg322Leu) rs183864227
NM_000038.6(APC):c.1229dup (p.Leu410fs) rs863225308
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter) rs876658355
NM_000038.6(APC):c.2547_2550del (p.Asp849fs) rs398123118
NM_000038.6(APC):c.311C>G (p.Ser104Ter) rs74953290
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup) rs587780602
NM_000051.4(ATM):c.2148C>G (p.Val716=) rs1800701
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000051.4(ATM):c.3285-9del rs1799757
NM_000051.4(ATM):c.3403-13dup rs3218681
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.5005+17C>T rs200688912
NM_000053.4(ATP7B):c.-123_-119dupCGCCG rs148013251
NM_000053.4(ATP7B):c.-396C>G rs145371060
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2097_2100del (p.Phe699fs) rs1555291784
NM_000053.4(ATP7B):c.2120A>G (p.Gln707Arg)
NM_000053.4(ATP7B):c.2231C>T (p.Ser744Phe) rs1958498953
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly) rs1555291147
NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly) rs752634617
NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr) rs1057520235
NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro) rs1455758826
NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile) rs1340729837
NM_000053.4(ATP7B):c.2866-2del rs1593681941
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr) rs1038582488
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=) rs746358240
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter) rs753236073
NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys) rs376910645
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly) rs1555286478
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg) rs786204483
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala) rs1566462533
NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del) rs781266802
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.956del (p.Pro319fs) rs753674382
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.10176del (p.Glu3393fs) rs80359258
NM_000059.4(BRCA2):c.1166C>A (p.Pro389Gln) rs397507263
NM_000059.4(BRCA2):c.1545T>G (p.Thr515=) rs786202158
NM_000059.4(BRCA2):c.1909+1G>A rs587781629
NM_000059.4(BRCA2):c.1909+22del rs276174816
NM_000059.4(BRCA2):c.1909+22dup rs276174816
NM_000059.4(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.4(BRCA2):c.3503T>A (p.Met1168Lys) rs80358598
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del) rs80359406
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del) rs80359432
NM_000059.4(BRCA2):c.430GTT[1] (p.Val145del) rs80359442
NM_000059.4(BRCA2):c.4464_4465del (p.His1488fs) rs397507720
NM_000059.4(BRCA2):c.4513A>G (p.Thr1505Ala) rs80358682
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter) rs80358692
NM_000059.4(BRCA2):c.4856A>G (p.Asn1619Ser) rs80358709
NM_000059.4(BRCA2):c.4936_4937del (p.Glu1646fs) rs431825323
NM_000059.4(BRCA2):c.50C>T (p.Thr17Ile) rs386833396
NM_000059.4(BRCA2):c.5554G>A (p.Val1852Ile) rs80358777
NM_000059.4(BRCA2):c.5634C>T (p.Asn1878=) rs80358784
NM_000059.4(BRCA2):c.574_575del (p.Met192fs) rs80359533
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala) rs56191579
NM_000059.4(BRCA2):c.6323G>T (p.Arg2108Leu) rs35029074
NM_000059.4(BRCA2):c.6841+8T>G rs2137531137
NM_000059.4(BRCA2):c.6938-25_6938-19del rs762815401
NM_000059.4(BRCA2):c.7007+5G>A rs81002816
NM_000059.4(BRCA2):c.7188G>T (p.Leu2396Phe) rs587780871
NM_000059.4(BRCA2):c.7331A>T (p.Asp2444Val) rs431825352
NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser) rs587781485
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly) rs80359026
NM_000059.4(BRCA2):c.7987G>A (p.Glu2663Lys) rs80359030
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser) rs80359165
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup) rs80359749
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000069.3(CACNA1S):c.2454G>A (p.Ala818=) rs141619541
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000071.3(CBS):c.667-10_667-7del rs376011228
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln) rs6413463
NM_000088.4(COL1A1):c.1300-8C>G rs41317361
NM_000088.4(COL1A1):c.1300-8C>T rs41317361
NM_000088.4(COL1A1):c.2650G>A (p.Gly884Ser) rs1567755602
NM_000088.4(COL1A1):c.3046-20CT[10] rs138425306
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000088.4(COL1A1):c.3479G>A (p.Gly1160Asp) rs886039726
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser) rs67815019
NM_000089.4(COL1A2):c.115G>A (p.Gly39Arg)
NM_000089.4(COL1A2):c.1541G>C (p.Gly514Ala) rs1791962073
NM_000089.4(COL1A2):c.2989G>A (p.Gly997Ser) rs1562907287
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000092.5(COL4A4):c.736-4del rs750699545
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=) rs199755089
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000095.3(COMP):c.1318G>C (p.Gly440Arg) rs1601053997
NM_000095.3(COMP):c.1668+13T>A rs74432818
NM_000095.3(COMP):c.218-14C>T rs150008764
NM_000132.4(F8):c.5422C>T (p.Leu1808Phe) rs137852445
NM_000132.4(F8):c.5587-93C>T rs1264918703
NM_000132.4(F8):c.5815G>C (p.Ala1939Pro) rs1603432979
NM_000132.4(F8):c.592T>G (p.Cys198Gly) rs137852475
NM_000132.4(F8):c.6547A>G (p.Met2183Val) rs781797728
NM_000132.4(F8):c.6929C>T (p.Thr2310Ile) rs373079141
NM_000132.4(F8):c.6956dup (p.Leu2320fs) rs1475873048
NM_000132.4(F8):c.766T>A (p.Tyr256Asn) rs1569559955
NM_000132.4(F8):c.797G>A (p.Gly266Glu) rs137852398
NM_000132.4(F8):c.986G>A (p.Cys329Tyr) rs137852409
NM_000133.4(F9):c.1328T>C (p.Ile443Thr) rs137852268
NM_000133.4(F9):c.835G>A (p.Ala279Thr) rs137852247
NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter) rs794728165
NM_000138.5(FBN1):c.1459G>T (p.Glu487Ter) rs1555400374
NM_000138.5(FBN1):c.1545_1546inv (p.Cys515_Arg516delinsTrpGly)
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys) rs1555398835
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter) rs140630
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.5(FBN1):c.5672-3T>C rs193922217
NM_000138.5(FBN1):c.5874C>A (p.Cys1958Ter) rs1555395750
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.6487G>T (p.Glu2163Ter) rs1555395191
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.7383C>G (p.Asn2461Lys) rs754047254
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000141.5(FGFR2):c.2328C>T (p.Leu776=) rs148478597
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met) rs199544087
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000142.5(FGFR3):c.912C>G (p.Pro304=) rs201012537
NM_000143.4(FH):c.1237-50TC[24] rs144131869
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000152.5(GAA):c.1438-1G>T rs147804176
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.858+17_858+23del rs1555599723
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.1049C>A (p.Thr350Asn) rs775317639
NM_000155.4(GALT):c.385A>T (p.Met129Leu) rs193922248
NM_000155.4(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.4(GALT):c.405G>A (p.Ser135=) rs141232328
NM_000155.4(GALT):c.617A>G (p.Gln206Arg) rs1587239309
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser) rs886043390
NM_000155.4(GALT):c.761dup (p.Leu255fs) rs747036550
NM_000155.4(GALT):c.812A>G (p.Glu271Gly) rs111033765
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000156.6(GAMT):c.503A>C (p.Tyr168Ser) rs1131691644
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000162.5(GCK):c.1020-10C>A rs193922257
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000173.7(GP1BA):c.763A>G (p.Met255Val) rs121908064
NM_000179.3(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs) rs587782712
NM_000179.3(MSH6):c.3162C>T (p.Ile1054=) rs149605979
NM_000179.3(MSH6):c.3173-18T>A rs189672273
NM_000179.3(MSH6):c.3173-1G>C rs397515875
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del) rs876658650
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000180.4(GUCY2D):c.3043+11C>T rs116870332
NM_000184.2(HBG2):c.199A>C (p.Lys67Gln) rs34264694
NM_000184.2(HBG2):c.49G>C (p.Gly17Arg) rs34907654
NM_000207.3(INS):c.188-31G>A rs797045623
NM_000208.4(INSR):c.653-23TC[9] rs3835070
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) rs193922357
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.1986C>T (p.Tyr662=) rs11601907
NM_000218.3(KCNQ1):c.526T>C (p.Trp176Arg) rs1554892900
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460
NM_000231.3(SGCG):c.195+4_195+7del rs797045106
NM_000238.4(KCNH2):c.1557+1G>C rs886039043
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
NM_000238.4(KCNH2):c.2398+105del rs546898924
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly) rs199473004
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698
NM_000238.4(KCNH2):c.77-5C>G rs72549419
NM_000243.3(MEFV):c.1092G>T (p.Pro364=) rs11466022
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
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_000249.4(MLH1):c.1688_1689del (p.Ile563fs) rs863225376
NM_000249.4(MLH1):c.207+2T>C rs267607722
NM_000249.4(MLH1):c.85G>T (p.Ala29Ser) rs63750656
NM_000249.4(MLH1):c.885-21TC[2] rs267607804
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.1387-14_1387-11del rs370436680
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.942+24_942+29del rs11309117
NM_000255.4(MMUT):c.1889G>C (p.Gly630Ala) rs143023066
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000256.3(MYBPC3):c.506-12del rs11570050
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000264.5(PTCH1):c.113G>T (p.Gly38Val) rs143494325
NM_000264.5(PTCH1):c.1602+15_1602+17del rs528001004
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=) rs62637631
NM_000286.3(PEX12):c.681-3_681-2del rs138568975
NM_000288.4(PEX7):c.748-5del rs563675060
NM_000289.6(PFKM):c.1063-6C>A rs371033104
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del) rs778896252
NM_000298.6(PKLR):c.1219G>A (p.Glu407Lys) rs866472917
NM_000298.6(PKLR):c.1378G>A (p.Val460Met) rs752034960
NM_000298.6(PKLR):c.1670G>C (p.Gly557Ala) rs1674489086
NM_000298.6(PKLR):c.993C>A (p.Asp331Glu) rs138476691
NM_000302.4(PLOD1):c.1903-14dup rs748794198
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn) rs142978362
NM_000311.3(PRNP):c.204_227del24 (p.Pro84_Gln91del) rs193922906
NM_000314.8(PTEN):c.-511G>A rs12573787
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000314.8(PTEN):c.212G>A (p.Cys71Tyr) rs1554897856
NM_000314.8(PTEN):c.802-3del rs34003473
NM_000314.8(PTEN):c.802-51_802-14del rs557364463
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del) rs572454921
NM_000322.5(PRPH2):c.483C>G (p.Ile161Met) rs76989855
NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp) rs28933990
NM_000329.3(RPE65):c.1302G>C (p.Ala434=) rs62636301
NM_000335.5(SCN5A):c.1126C>T (p.Arg376Cys) rs199473100
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys) rs199473082
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000341.4(SLC3A1):c.1136+3del rs796262035
NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln) rs121912755
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp) rs28931585
NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter) rs750930293
NM_000342.4(SLC4A1):c.16-1G>A
NM_000342.4(SLC4A1):c.1627-3C>T
NM_000342.4(SLC4A1):c.202G>T (p.Glu68Ter) rs13306787
NM_000342.4(SLC4A1):c.2057+1G>A rs2047371081
NM_000342.4(SLC4A1):c.2169G>A (p.Trp723Ter) rs2047358814
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp) rs373916826
NM_000342.4(SLC4A1):c.609+1G>A rs1362663440
NM_000342.4(SLC4A1):c.733G>A (p.Val245Met) rs148170067
NM_000346.4(SOX9):c.715A>C (p.Thr239Pro) rs1275128261
NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn) rs61749450
NM_000352.6(ABCC8):c.2041-12C>T rs201419039
NM_000352.6(ABCC8):c.2695-20G>A
NM_000355.4(TCN2):c.581-8A>G rs7290898
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del) rs755655903
NM_000371.4(TTR):c.221A>G (p.Glu74Gly) rs1598845097
NM_000371.4(TTR):c.302C>T (p.Ala101Val) rs1555631417
NM_000371.4(TTR):c.325G>A (p.Glu109Lys) rs121918082
NM_000371.4(TTR):c.337-14_337-11del rs112263266
NM_000371.4(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu)
NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)
NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)
NM_000384.3(APOB):c.12382G>A (p.Val4128Met)
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn)
NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs) rs760832994
NM_000384.3(APOB):c.1661C>T (p.Pro554Leu)
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.49CTG[8] (p.Leu21_Leu22dup) rs745520533
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.6936_6937inv (p.Ile2313Val)
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000398.7(CYB5R3):c.334-15G>A
NM_000399.5(EGR2):c.1226G>A (p.Arg409Gln) rs864622273
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) rs137852320
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) rs137852316
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.482G>T (p.Gly161Val) rs137852341
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000432.4(MYL2):c.274+16_274+17insTC rs200007468
NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys) rs1599391536
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr) rs886041513
NM_000435.3(NOTCH3):c.1474A>T (p.Ser492Cys) rs2046899820
NM_000435.3(NOTCH3):c.1531T>A (p.Cys511Ser)
NM_000435.3(NOTCH3):c.1565G>C (p.Cys522Ser)
NM_000435.3(NOTCH3):c.1607-14T>C
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000435.3(NOTCH3):c.1816T>C (p.Cys606Arg) rs1568359346
NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser) rs1555730176
NM_000435.3(NOTCH3):c.197+8C>T
NM_000435.3(NOTCH3):c.239A>G (p.Asp80Gly) rs1599395616
NM_000435.3(NOTCH3):c.245G>T (p.Cys82Phe) rs1023306013
NM_000435.3(NOTCH3):c.2951T>G (p.Phe984Cys) rs995523352
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg) rs1599382214
NM_000435.3(NOTCH3):c.3084G>C (p.Trp1028Cys) rs2046832726
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.436T>C (p.Cys146Arg) rs1555729510
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys) rs797045014
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000435.3(NOTCH3):c.719G>A (p.Cys240Tyr) rs1599394351
NM_000436.4(OXCT1):c.79-11del rs748715820
NM_000441.2(SLC26A4):c.1670G>A (p.Gly557Asp) rs939755872
NM_000441.2(SLC26A4):c.416-16G>T rs114992866
NM_000441.2(SLC26A4):c.765+2T>C rs397516432
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)
NM_000463.3(UGT1A1):c.1084+1G>T rs587784535
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_000463.3(UGT1A1):c.686C>T (p.Pro229Leu) rs35350960
NM_000463.3(UGT1A1):c.964A>G (p.Ile322Val) rs200903749
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) rs28997575
NM_000465.4(BARD1):c.1519G>A (p.Val507Met) rs2070094
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly) rs1219494274
NM_000478.6(ALPL):c.1417G>A (p.Gly473Ser) rs1644755212
NM_000478.6(ALPL):c.457T>C (p.Trp153Arg) rs1644512630
NM_000478.6(ALPL):c.472+12del rs35423948
NM_000478.6(ALPL):c.534C>T (p.Tyr178=) rs201250289
NM_000478.6(ALPL):c.871G>A (p.Glu291Lys) rs786204473
NM_000478.6(ALPL):c.978CTT[2] (p.Phe328del) rs753338851
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.6(ATRX):c.5540A>T (p.Tyr1847Phe) rs1057521987
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1210-17_1210-12del rs3832534
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro) rs77932196
NM_000492.4(CFTR):c.1210-2A>C rs397508179
NM_000492.4(CFTR):c.1210-34TG[9] rs3832534
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.2252G>T (p.Arg751Leu) rs397508357
NM_000492.4(CFTR):c.253G>C (p.Gly85Arg)
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn) rs201864483
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg) rs142394380
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr) rs113993958
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) rs77834169
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.4056G>C (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr) rs200955612
NM_000492.4(CFTR):c.4243-16A>G rs780125251
NM_000492.4(CFTR):c.4243-35del rs193922527
NM_000492.4(CFTR):c.4243-7del rs878854021
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly) rs1554380515
NM_000492.4(CFTR):c.744-33GATT[8] rs1805171
NM_000492.4(CFTR):c.744-34_744-31del rs768226435
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_000517.4(HBA2):c.427T>G (p.Ter143Glu) rs41464951
NM_000517.4(HBA2):c.49A>G (p.Lys17Glu) rs281865555
NM_000517.5(HBA2):c.-41C>G rs1188584832
NM_000517.6(HBA2):c.151C>G (p.His51Asp) rs41461652
NM_000517.6(HBA2):c.179G>A (p.Gly60Asp) rs281864846
NM_000517.6(HBA2):c.215C>A (p.Ala72Glu) rs281864853
NM_000517.6(HBA2):c.22A>G (p.Lys8Glu) rs34817956
NM_000517.6(HBA2):c.237C>A (p.Asn79Lys) rs281860607
NM_000517.6(HBA2):c.257A>T (p.Asp86Val) rs41331747
NM_000517.6(HBA2):c.273G>T (p.Lys91Asn)
NM_000517.6(HBA2):c.294C>A (p.Asn98Lys) rs41338947
NM_000517.6(HBA2):c.301-24delinsCTCGGCCC rs1596570272
NM_000517.6(HBA2):c.309C>A (p.Ser103Arg) rs41344646
NM_000517.6(HBA2):c.30C>G (p.Asn10Lys) rs111033604
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr) rs41417548
NM_000517.6(HBA2):c.326C>A (p.Thr109Asn) rs63750010
NM_000517.6(HBA2):c.344C>T (p.Pro115Leu) rs267607269
NM_000517.6(HBA2):c.349G>A (p.Glu117Lys) rs33987053
NM_000517.6(HBA2):c.358C>T (p.Pro120Ser) rs1262943621
NM_000517.6(HBA2):c.369C>G (p.His123Gln) rs41479347
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro) rs41397847
NM_000517.6(HBA2):c.379G>A (p.Asp127Asn) rs33933481
NM_000517.6(HBA2):c.38C>A (p.Ala13Asp) rs281864809
NM_000517.6(HBA2):c.40G>C (p.Ala14Pro) rs281860609
NM_000517.6(HBA2):c.420del (p.Lys140fs) rs63750520
NM_000517.6(HBA2):c.428A>C (p.Ter143Ser) rs41321345
NM_000517.6(HBA2):c.45G>C (p.Trp15Cys) rs63750367
NM_000517.6(HBA2):c.55G>C (p.Gly19Arg) rs63750294
NM_000517.6(HBA2):c.79G>A (p.Ala27Thr) rs41467944
NM_000517.6(HBA2):c.89T>C (p.Leu30Pro) rs41341344
NM_000517.6(HBA2):c.91_93del (p.Glu31del) rs281864560
NM_000518.4(HBB):c.-136C>G rs33994806
NM_000518.4(HBB):c.-92C>G rs397515291
NM_000518.4(HBB):c.137T>C (p.Phe46Ser) rs33978338
NM_000518.4(HBB):c.142G>A (p.Asp48Asn) rs33932070
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.4(HBB):c.157G>C (p.Asp53His) rs33961886
NM_000518.4(HBB):c.184A>G (p.Lys62Glu) rs33995148
NM_000518.4(HBB):c.191A>G (p.His64Arg) rs33985544
NM_000518.4(HBB):c.194G>C (p.Gly65Ala) rs33922018
NM_000518.4(HBB):c.232C>G (p.His78Asp) rs33991294
NM_000518.4(HBB):c.232C>T (p.His78Tyr) rs33991294
NM_000518.4(HBB):c.238G>A (p.Asp80Asn) rs33990858
NM_000518.4(HBB):c.238G>C (p.Asp80His) rs33990858
NM_000518.4(HBB):c.238G>T (p.Asp80Tyr) rs33990858
NM_000518.4(HBB):c.248A>T (p.Lys83Met) rs33987903
NM_000518.4(HBB):c.266T>C (p.Leu89Pro) rs33940204
NM_000518.4(HBB):c.271G>A (p.Glu91Lys) rs33913712
NM_000518.4(HBB):c.275T>C (p.Leu92Pro) rs33917785
NM_000518.4(HBB):c.275T>G (p.Leu92Arg) rs33917785
NM_000518.4(HBB):c.29C>G (p.Ser10Cys) rs33918131
NM_000518.4(HBB):c.302C>G (p.Pro101Arg) rs33965000
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4(HBB):c.371C>T (p.Thr124Ile) rs33935383
NM_000518.4(HBB):c.374C>T (p.Pro125Leu) rs33983276
NM_000518.4(HBB):c.422C>A (p.Ala141Asp) rs33927093
NM_000518.4(HBB):c.67G>A (p.Glu23Lys) rs33959855
NM_000518.4(HBB):c.67G>C (p.Glu23Gln) rs33959855
NM_000518.4(HBB):c.68A>G (p.Glu23Gly) rs33936254
NM_000518.4(HBB):c.8A>G (p.His3Arg) rs33983205
NM_000518.5(HBB):c.*110_*111del rs63750205
NM_000518.5(HBB):c.*56A>G rs537944366
NM_000518.5(HBB):c.-82C>T rs34500389
NM_000518.5(HBB):c.10C>G (p.Leu4Val) rs34126315
NM_000518.5(HBB):c.118C>A (p.Gln40Lys) rs11549407
NM_000518.5(HBB):c.128T>C (p.Phe43Ser) rs34378160
NM_000518.5(HBB):c.134C>G (p.Ser45Cys) rs34868397
NM_000518.5(HBB):c.140G>A (p.Gly47Glu) rs35303218
NM_000518.5(HBB):c.16C>T (p.Pro6Ser) rs33912272
NM_000518.5(HBB):c.174C>A (p.Asn58Lys) rs35278874
NM_000518.5(HBB):c.179A>C (p.Lys60Thr) rs35537181
NM_000518.5(HBB):c.180G>C (p.Lys60Asn) rs34621955
NM_000518.5(HBB):c.186G>C (p.Lys62Asn) rs34446260
NM_000518.5(HBB):c.19GAG[1] (p.Glu8del) rs63750928
NM_000518.5(HBB):c.200A>C (p.Lys67Thr) rs35939489
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) rs33961459
NM_000518.5(HBB):c.235del (p.Leu79fs) rs281865475
NM_000518.5(HBB):c.251G>A (p.Gly84Asp) rs1803195
NM_000518.5(HBB):c.294C>G (p.His98Gln) rs34515413
NM_000518.5(HBB):c.314G>C (p.Arg105Thr) rs33911434
NM_000518.5(HBB):c.316-14T>G rs35703285
NM_000518.5(HBB):c.316-198G>A rs547258651
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.328G>A (p.Val110Met) rs33969677
NM_000518.5(HBB):c.33C>A (p.Ala11=) rs35799536
NM_000518.5(HBB):c.363A>C (p.Lys121Asn) rs34726542
NM_000518.5(HBB):c.380T>A (p.Val127Glu) rs33925391
NM_000518.5(HBB):c.380T>G (p.Val127Gly) rs33925391
NM_000518.5(HBB):c.394C>A (p.Gln132Lys) rs33910209
NM_000518.5(HBB):c.394C>G (p.Gln132Glu) rs33910209
NM_000518.5(HBB):c.397A>C (p.Lys133Gln) rs33953406
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_000518.5(HBB):c.420T>A (p.Asn140Lys) rs34240441
NM_000518.5(HBB):c.431A>C (p.His144Pro) rs33918338
NM_000518.5(HBB):c.431A>G (p.His144Arg) rs33918338
NM_000518.5(HBB):c.435G>C (p.Lys145Asn) rs35020585
NM_000518.5(HBB):c.436T>C (p.Tyr146His) rs33949869
NM_000518.5(HBB):c.437A>G (p.Tyr146Cys) rs35117167
NM_000518.5(HBB):c.59A>G (p.Asn20Ser) rs33972047
NM_000518.5(HBB):c.5T>C (p.Val2Ala) rs33949930
NM_000518.5(HBB):c.60C>A (p.Asn20Lys) rs63750840
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103
NM_000518.5(HBB):c.93-3T>G rs34527846
NM_000518.5(HBB):c.9T>A (p.His3Gln) rs713040
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.941-4G>A
NM_000530.8(MPZ):c.646-2A>G rs1670228122
NM_000531.6(OTC):c.167T>C (p.Met56Thr) rs72554320
NM_000531.6(OTC):c.903A>T (p.Leu301Phe) rs72558462
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000539.3(RHO):c.1021G>A (p.Glu341Lys) rs142322202
NM_000539.3(RHO):c.563G>A (p.Gly188Glu) rs1424131846
NM_000540.3(RYR1):c.38T>G (p.Leu13Arg) rs193922744
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys) rs118192161
NM_000540.3(RYR1):c.7879G>A (p.Val2627Met) rs914804033
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.6(TP53):c.920-2A>G rs397516439
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del) rs137853983
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.5068+27_5069-47del
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_000548.5(TSC2):c.5094C>T (p.Ser1698=) rs45514196
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=) rs1051771
NM_000551.4(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000552.5(VWF):c.3101_3103del (p.Thr1034del) rs368366214
NM_000552.5(VWF):c.3692A>C (p.Asn1231Thr) rs61749368
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile) rs61750069
NM_000552.5(VWF):c.4824C>T (p.Thr1608=) rs142635883
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_000552.5(VWF):c.8295C>T (p.Asn2765=)
NM_000558.3(HBA1):c.134C>T (p.Pro45Leu) rs33978134
NM_000558.3(HBA1):c.142G>A (p.Asp48Asn) rs34269448
NM_000558.3(HBA1):c.154G>C (p.Gly52Arg) rs33960522
NM_000558.3(HBA1):c.179G>A (p.Gly60Asp) rs28928878
NM_000558.3(HBA1):c.20A>G (p.Asp7Gly) rs33986902
NM_000558.3(HBA1):c.226G>T (p.Asp76Tyr) rs33977363
NM_000558.3(HBA1):c.270C>G (p.His90Gln) rs1061009
NM_000558.3(HBA1):c.272A>C (p.Lys91Thr) rs33911106
NM_000558.3(HBA1):c.287C>T (p.Pro96Leu) rs33931314
NM_000558.3(HBA1):c.349G>A (p.Glu117Lys) rs63749882
NM_000558.3(HBA1):c.49A>G (p.Lys17Glu) rs41407250
NM_000558.4(HBA1):c.-52C>T rs1276035978
NM_000558.5(HBA1):c.104T>G (p.Leu35Arg) rs35203445
NM_000558.5(HBA1):c.163C>G (p.Gln55Glu) rs35317336
NM_000558.5(HBA1):c.17C>A (p.Ala6Asp) rs34090856
NM_000558.5(HBA1):c.223G>C (p.Asp75His) rs28928875
NM_000558.5(HBA1):c.24G>C (p.Lys8Asn) rs34410516
NM_000558.5(HBA1):c.273G>C (p.Lys91Asn) rs33914470
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp) rs63749948
NM_000558.5(HBA1):c.350A>C (p.Glu117Ala) rs35932809
NM_000558.5(HBA1):c.362C>A (p.Ala121Glu) rs63749927
NM_000558.5(HBA1):c.47G>A (p.Gly16Asp) rs281865560
NM_000558.5(HBA1):c.84G>T (p.Glu28Asp) rs41530750
NM_000558.5(HBA1):c.91G>A (p.Glu31Lys) rs33993166
NM_000558.5(HBA1):c.98T>A (p.Met33Lys) rs281864566
NM_000587.4(C7):c.1561C>A (p.Arg521Ser) rs121964920
NM_000651.6(CR1):c.6373G>T (p.Val2125Leu) rs202148801
NM_000719.7(CACNA1C):c.1218-6C>T rs727503833
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_001005373.4(LRSAM1):c.72+10del rs1554753226
NM_001006658.3(CR2):c.3189-8_3189-7del rs112859639
NM_001006658.3(CR2):c.524C>T (p.Pro175Leu) rs75282758
NM_001006658.3(CR2):c.624C>A (p.Pro208=) rs61759494
NM_001009944.3(PKD1):c.10850T>C (p.Leu3617Pro) rs1567158067
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln) rs1555446330
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser) rs1303102528
NM_001009944.3(PKD1):c.11713-1G>A rs867092741
NM_001009944.3(PKD1):c.11916C>G (p.Arg3972=) rs77634115
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu) rs2091413514
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter) rs2091391674
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg) rs1555458704
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.3101A>G (p.Asn1034Ser) rs28681051
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.5037C>A (p.Ser1679Arg) rs144091742
NM_001009944.3(PKD1):c.5882C>T (p.Ala1961Val) rs375440448
NM_001009944.3(PKD1):c.7992C>T (p.Ile2664=) rs537012440
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del) rs1596527370
NM_001009944.3(PKD1):c.9924-9_9924-7del rs892390487
NM_001018.5(RPS15):c.140G>C (p.Arg47Pro) rs201657403
NM_001018115.3(FANCD2):c.1275C>T (p.Tyr425=) rs764447374
NM_001018115.3(FANCD2):c.1401G>A (p.Thr467=) rs12330369
NM_001018115.3(FANCD2):c.1413+3A>G rs62245508
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del) rs11498192
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del) rs62653033
NM_001035.3(RYR2):c.10838+3C>T rs1417807379
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.4597-11del rs3841805
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=) rs114534505
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=) rs371560909
NM_001035.3(RYR2):c.7222-12dup rs145140335
NM_001035.3(RYR2):c.9318T>A (p.Ser3106=) rs2797436
NM_001037.5(SCN1B):c.207+19C>T rs201872896
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln) rs111588143
NM_001040151.2(SCN3B):c.390G>A (p.Ala130=) rs148484744
NM_001042492.3(NF1):c.-272G>A rs1911510393
NM_001042492.3(NF1):c.1429T>C (p.Phe477Leu) rs1555612276
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_001042492.3(NF1):c.4243A>C (p.Asn1415His) rs1555618518
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del) rs1135402868
NM_001042492.3(NF1):c.61-4del rs551568608
NM_001042492.3(NF1):c.61-4dup rs551568608
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001042492.3(NF1):c.6148-28del rs398100472
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro) rs199474756
NM_001042492.3(NF1):c.6922-14_6922-13del rs146785663
NM_001042492.3(NF1):c.7190-33TTGT[3] rs149197458
NM_001042492.3(NF1):c.730+32del rs71142032
NM_001042492.3(NF1):c.7457+21A>G rs17881641
NM_001042492.3(NF1):c.746T>C (p.Leu249Pro) rs1567826623
NM_001042492.3(NF1):c.7971-8del rs564545012
NM_001042517.2(DIAPH3):c.1840C>A (p.Pro614Thr) rs200018583
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001048174.2(MUTYH):c.420+19_420+31del rs781222233
NM_001048174.2(MUTYH):c.606+21C>A rs148552450
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001081.4(CUBN):c.2496dup (p.Pro833fs) rs1554816715
NM_001081.4(CUBN):c.7346T>C (p.Met2449Thr) rs41301097
NM_001110556.2(FLNA):c.3429C>G (p.Thr1143=) rs183899917
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu) rs61753014
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) rs61753973
NM_001110792.2(MECP2):c.1448G>C (p.Arg483Thr) rs1057520310
NM_001110792.2(MECP2):c.413+6_413+9del rs267608459
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys) rs141382970
NM_001114753.3(ENG):c.1087T>C (p.Cys363Arg) rs2131885848
NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly) rs751787590
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_001114753.3(ENG):c.1429-8C>G rs376169815
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp) rs1564462765
NM_001114753.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly) rs1830376644
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg) rs1830302008
NM_001114753.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_001114753.3(ENG):c.360+5G>A rs1060501417
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser) rs1588583488
NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1]) rs1588582060
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro) rs1335718486
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp) rs1555745461
NM_001127511.3(APC):c.-126dup rs565045828
NM_001127671.2(LIFR):c.143-37GT[11] rs10637374
NM_001127671.2(LIFR):c.143-37GT[13] rs10637374
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys) rs3729751
NM_001127671.2(LIFR):c.3288C>T (p.Asn1096=) rs3729751
NM_001127898.4(CLCN5):c.819= (p.Ser273=) rs34464675
NM_001134363.3(RBM20):c.2303C>T (p.Ser768Leu) rs1417635
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001142800.2(EYS):c.6079-24TC[8] rs35395170
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs) rs769824975
NM_001142864.4(PIEZO1):c.1179C>G (p.Ser393=) rs780119372
NM_001142864.4(PIEZO1):c.1187G>A (p.Arg396Gln)
NM_001142864.4(PIEZO1):c.1211C>T (p.Ala404Val)
NM_001142864.4(PIEZO1):c.1447G>A (p.Val483Met) rs747301309
NM_001142864.4(PIEZO1):c.1792G>A (p.Val598Met) rs2142820621
NM_001142864.4(PIEZO1):c.1917G>C (p.Leu639=)
NM_001142864.4(PIEZO1):c.2247GGA[6] (p.Glu755_Glu756del) rs59446030
NM_001142864.4(PIEZO1):c.2247GGA[7] (p.Glu756del) rs59446030
NM_001142864.4(PIEZO1):c.2247GGA[9] (p.Glu756dup) rs59446030
NM_001142864.4(PIEZO1):c.2248G>C (p.Glu750Gln)
NM_001142864.4(PIEZO1):c.2661C>T (p.Thr887=)
NM_001142864.4(PIEZO1):c.2731G>A (p.Val911Met) rs554899632
NM_001142864.4(PIEZO1):c.2860C>A (p.Arg954=) rs765257824
NM_001142864.4(PIEZO1):c.2860C>T (p.Arg954Trp) rs765257824
NM_001142864.4(PIEZO1):c.2875G>A (p.Ala959Thr) rs770222800
NM_001142864.4(PIEZO1):c.2982C>G (p.Phe994Leu) rs374262841
NM_001142864.4(PIEZO1):c.3433G>A (p.Val1145Met)
NM_001142864.4(PIEZO1):c.359G>A (p.Arg120Gln)
NM_001142864.4(PIEZO1):c.3626G>A (p.Arg1209Gln)
NM_001142864.4(PIEZO1):c.3699+20G>C rs4424896
NM_001142864.4(PIEZO1):c.3699+20_3699+21delinsCG rs1904465031
NM_001142864.4(PIEZO1):c.4316C>T (p.Ser1439Leu)
NM_001142864.4(PIEZO1):c.4495+10_4495+14dup rs567560285
NM_001142864.4(PIEZO1):c.4956-17C>T
NM_001142864.4(PIEZO1):c.5139C>T (p.Leu1713=) rs369279313
NM_001142864.4(PIEZO1):c.5289C>T (p.Tyr1763=) rs72811487
NM_001142864.4(PIEZO1):c.5340C>T (p.Asp1780=) rs372159659
NM_001142864.4(PIEZO1):c.5389C>T (p.Arg1797Cys)
NM_001142864.4(PIEZO1):c.5393C>T (p.Ser1798Phe)
NM_001142864.4(PIEZO1):c.5515G>A (p.Glu1839Lys) rs77170706
NM_001142864.4(PIEZO1):c.5636A>G (p.Glu1879Gly)
NM_001142864.4(PIEZO1):c.5743C>A (p.Arg1915Ser) rs13338527
NM_001142864.4(PIEZO1):c.5778G>A (p.Arg1926=)
NM_001142864.4(PIEZO1):c.5846T>G (p.Ile1949Ser)
NM_001142864.4(PIEZO1):c.5920A>G (p.Ile1974Val)
NM_001142864.4(PIEZO1):c.5991C>T (p.Asp1997=)
NM_001142864.4(PIEZO1):c.6231C>G (p.Ser2077=)
NM_001142864.4(PIEZO1):c.6328C>T (p.Arg2110Trp)
NM_001142864.4(PIEZO1):c.6494AGA[4] (p.Lys2169del) rs763477215
NM_001142864.4(PIEZO1):c.6796G>A (p.Val2266Ile) rs546338962
NM_001142864.4(PIEZO1):c.6886A>C (p.Thr2296Pro)
NM_001142864.4(PIEZO1):c.7007G>A (p.Arg2336Gln)
NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup) rs755226463
NM_001145809.2(MYH14):c.192G>T (p.Gly64=) rs181055215
NM_001148.6(ANK2):c.11032+20TG[17] rs34201791
NM_001177316.2(SLC34A3):c.942G>C (p.Ala314=) rs34664302
NM_001199397.3(NEK1):c.1081-8dup rs398124255
NM_001204.7(BMPR2):c.621+37C>G rs78779412
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del) rs72554069
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
NM_001244008.2(KIF1A):c.204G>T (p.Ala68=) rs141052770
NM_001244008.2(KIF1A):c.2721GGA[12] (p.Glu917dup) rs10594016
NM_001244008.2(KIF1A):c.2721GGA[9] (p.Glu916_Glu917del) rs10594016
NM_001244008.2(KIF1A):c.865-24CT[2] rs140674901
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu) rs150397427
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615
NM_001267550.2(TTN):c.106133C>T (p.Ala35378Val) rs555476312
NM_001267550.2(TTN):c.13194A>G (p.Gln4398=) rs375347596
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.21489C>G (p.Thr7163=) rs376882041
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.26762-39TTTGT[5] rs71393436
NM_001267550.2(TTN):c.2775+19G>T rs199707799
NM_001267550.2(TTN):c.29938G>A (p.Ala9980Thr) rs189286381
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3]) rs587780487
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del) rs397517549
NM_001267550.2(TTN):c.36044C>G (p.Thr12015Arg) rs199868380
NM_001267550.2(TTN):c.38708-4T>C rs200819643
NM_001267550.2(TTN):c.38929C>T (p.Pro12977Ser) rs150223722
NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1]) rs139512154
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.45120T>G (p.Ile15040Met) rs74580375
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.60205T>C (p.Cys20069Arg)
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu) rs72646843
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu) rs372799151
NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter) rs781540455
NM_001267550.2(TTN):c.7020C>T (p.Ile2340=) rs587780986
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=) rs72646894
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys) rs201489661
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys) rs55933739
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001267550.2(TTN):c.9618T>C (p.Phe3206=) rs878971586
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_001276345.2(TNNT2):c.53-11_53-7del rs45533739
NM_001277115.2(DNAH11):c.6273+9A>G rs192777767
NM_001289125.3(IFNAR2):c.157T>C (p.Ser53Pro) rs1987287426
NM_001291303.3(FAT4):c.739C>A (p.Pro247Thr) rs191329848
NM_001291415.2(KDM6A):c.1874C>T (p.Ser625Phe) rs765545282
NM_001297.5(CNGB1):c.2853C>A (p.Asp951Glu) rs7190978
NM_001355436.2(SPTB):c.1431G>A (p.Arg477=) rs886050626
NM_001355436.2(SPTB):c.1523G>A (p.Arg508His)
NM_001355436.2(SPTB):c.1A>G (p.Met1Val) rs121918651
NM_001355436.2(SPTB):c.208C>T (p.Arg70Ter) rs1566775577
NM_001355436.2(SPTB):c.228C>G (p.Thr76=) rs748108358
NM_001355436.2(SPTB):c.2696C>T (p.Thr899Ile)
NM_001355436.2(SPTB):c.3496C>T (p.Gln1166Ter)
NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter) rs150471537
NM_001355436.2(SPTB):c.443G>A (p.Gly148Asp) rs2082929857
NM_001355436.2(SPTB):c.4563+12G>C rs1741489
NM_001355436.2(SPTB):c.4735C>T (p.Arg1579Ter) rs760938057
NM_001355436.2(SPTB):c.6119_6120del (p.Thr2040fs) rs2139480757
NM_001355436.2(SPTB):c.6270-8_6270-6dup rs528966701
NM_001355436.2(SPTB):c.6483C>T (p.Ser2161=) rs143820600
NM_001358263.1(HK1):c.75+23del rs111682217
NM_001360.3(DHCR7):c.1066del (p.His356fs) rs774291653
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360016.2(G6PD):c.102CAT[2] (p.Ile36del) rs137852338
NM_001360016.2(G6PD):c.1288-14TC[2] rs199586268
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp) rs117500243
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001366385.1(CARD14):c.599G>T (p.Ser200Ile) rs114688446
NM_001370259.2(MEN1):c.1271AGG[1] (p.Glu425del) rs2136101303
NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter) rs104894261
NM_001370259.2(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_001370259.2(MEN1):c.430T>G (p.Phe144Val) rs1114167543
NM_001370259.2(MEN1):c.783+1G>A rs794728652
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) rs2066845
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001375808.2(LPIN2):c.1169-7del rs746626720
NM_001375808.2(LPIN2):c.1169-7dup rs746626720
NM_001375808.2(LPIN2):c.1716A>G (p.Pro572=) rs2077138820
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155
NM_001376.5(DYNC1H1):c.1826T>C (p.Ile609Thr) rs2047933165
NM_001376.5(DYNC1H1):c.3015+18C>G rs2749894
NM_001376013.1(EPB41):c.628A>G (p.Met210Val) rs1557948192
NM_001377.3(DYNC2H1):c.5959A>G (p.Thr1987Ala) rs137853035
NM_001377.3(DYNC2H1):c.6271A>G (p.Asn2091Asp) rs1555057881
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031
NM_001377.3(DYNC2H1):c.7540+14G>A rs115273161
NM_001378452.1(ITPR1):c.829A>G (p.Ser277Gly) rs1559603629
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_001384474.1(LOXHD1):c.1894G>T (p.Gly632Cys) rs35088381
NM_001386795.1(DTNA):c.1744-10G>T rs192561043
NM_001395413.1(POR):c.1405G>A (p.Val469Met) rs72557946
NM_001399.5(EDA):c.794A>G (p.Asp265Gly) rs727504750
NM_001457.4(FLNB):c.107G>A (p.Arg36His) rs142568031
NM_001457.4(FLNB):c.1327G>C (p.Val443Leu) rs200902568
NM_001457.4(FLNB):c.2773G>T (p.Gly925Cys) rs139875974
NM_001457.4(FLNB):c.3163G>A (p.Val1055Met) rs9813235
NM_001457.4(FLNB):c.4515-24GT[4] rs151085835
NM_001458.5(FLNC):c.4301G>T (p.Arg1434Leu) rs143623535
NM_001458.5(FLNC):c.5042C>G (p.Thr1681Arg) rs193159707
NM_001498.4(GCLC):c.-29AGG[4] rs3830798
NM_001530.4(HIF1A):c.1744C>T (p.Pro582Ser)
NM_001530.4(HIF1A):c.1762G>A (p.Ala588Thr)
NM_001613.4(ACTA2):c.399C>G (p.Ala133=) rs781132665
NM_001614.5(ACTG1):c.985-5dup rs782289893
NM_001655.5(ARCN1):c.654-15A>G rs1591385240
NM_001770.6(CD19):c.1303+1G>C rs372929312
NM_001844.5(COL2A1):c.1052G>T (p.Gly351Val) rs1939615464
NM_001844.5(COL2A1):c.1331G>T (p.Gly444Val) rs1939463507
NM_001844.5(COL2A1):c.1358G>A (p.Gly453Asp) rs794727339
NM_001844.5(COL2A1):c.1453G>A (p.Ala485Thr) rs556023617
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001844.5(COL2A1):c.1924G>A (p.Gly642Arg) rs794727472
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser) rs1939189846
NM_001844.5(COL2A1):c.3827G>A (p.Arg1276His) rs142168567
NM_001853.4(COL9A3):c.1729C>T (p.Arg577Ter) rs1201247953
NM_001853.4(COL9A3):c.1816G>A (p.Ala606Thr) rs142792529
NM_001854.4(COL11A1):c.1063T>C (p.Ser355Pro) rs141036911
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile) rs141817156
NM_001854.4(COL11A1):c.1792-39ATG[11] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[12] rs71752747
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala) rs386654705
NM_001927.4(DES):c.404C>T (p.Ala135Val) rs546741834
NM_001940.4(ATN1):c.2823C>G (p.Asp941Glu)
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001972.4(ELANE):c.558C>A (p.Val186=) rs878855317
NM_001972.4(ELANE):c.606C>T (p.Ser202=) rs17216649
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr) rs528255772
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_002055.5(GFAP):c.462-8dup rs572562362
NM_002180.3(IGHMBP2):c.1538-20C>T rs147148090
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_002234.4(KCNA5):c.213_245del (p.Asp72_Pro82del) rs144879674
NM_002234.4(KCNA5):c.92G>T (p.Gly31Val) rs61737395
NM_002296.4(LBR):c.893-5del rs78306811
NM_002439.5(MSH3):c.1148del (p.Lys383fs) rs587776701
NM_002439.5(MSH3):c.1764-9_1764-8del rs41559616
NM_002439.5(MSH3):c.2686G>T (p.Gly896Ter) rs777054839
NM_002471.4(MYH6):c.1131C>T (p.Asp377=) rs61742472
NM_002471.4(MYH6):c.2806G>T (p.Ala936Ser) rs141704264
NM_002471.4(MYH6):c.3609C>G (p.Ala1203=) rs149369904
NM_002471.4(MYH6):c.3979-11C>G rs200618133
NM_002471.4(MYH6):c.3979-14C>A rs372226248
NM_002471.4(MYH6):c.3979-8C>T rs555976716
NM_002471.4(MYH6):c.3979-9C>G rs57660219
NM_002471.4(MYH6):c.4360-7C>T rs58949384
NM_002473.6(MYH9):c.4009G>A (p.Glu1337Lys) rs1038334022
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys) rs80338834
NM_002474.3(MYH11):c.2665A>C (p.Lys889Gln) rs762308378
NM_002474.3(MYH11):c.5796C>T (p.Asn1932=) rs149529195
NM_002485.5(NBN):c.1398-10dup rs587780555
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002524.5(NRAS):c.451-21_451-19del rs754048062
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[13] (p.Gln54_Gln55dup) rs41550117
NM_002693.3(POLG):c.856-17CTC[4] rs200056162
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002755.4(MAP2K1):c.694-12TC[4] rs113913469
NM_002769.5(PRSS1):c.200+1G>A rs143909348
NM_002769.5(PRSS1):c.346C>T (p.Arg116Cys) rs387906698
NM_002769.5(PRSS1):c.40+15C>T rs760370254
NM_002834.5(PTPN11):c.1402A>G (p.Thr468Ala) rs397507537
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002834.5(PTPN11):c.774G>T (p.Glu258Asp) rs397516809
NM_002838.5(PTPRC):c.566T>A (p.Ile189Asn) rs201715157
NM_002863.5(PYGL):c.1970-7C>G
NM_002878.4(RAD51D):c.330dup (p.Ser111Ter) rs786202434
NM_002880.4(RAF1):c.1629G>C (p.Thr543=) rs5746244
NM_002880.4(RAF1):c.1668+19G>T rs5746245
NM_002880.4(RAF1):c.775T>G (p.Ser259Ala) rs3730271
NM_002890.3(RASA1):c.2691-17del rs368117332
NM_003000.2(SDHB):c.424-16_424-14dup rs34261028
NM_003000.3(SDHB):c.424-37TTC[10] rs34261028
NM_003000.3(SDHB):c.424-37TTC[6] rs34261028
NM_003000.3(SDHB):c.424-37TTC[7] rs34261028
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg) rs876658477
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003051.4(SLC16A1):c.362-58TATT[9] rs149491709
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp) rs121908890
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003072.5(SMARCA4):c.2716C>T (p.Arg906Cys) rs898406635
NM_003072.5(SMARCA4):c.4170+17C>T rs145829956
NM_003073.5(SMARCB1):c.90C>T (p.Ser30=) rs761868468
NM_003126.4(SPTA1):c.101G>C (p.Arg34Pro) rs567686069
NM_003126.4(SPTA1):c.121C>A (p.Arg41=) rs121918640
NM_003126.4(SPTA1):c.1350+1G>C
NM_003126.4(SPTA1):c.1703G>A (p.Arg568His) rs200829664
NM_003126.4(SPTA1):c.1833+1G>A rs1035389616
NM_003126.4(SPTA1):c.401A>G (p.Glu134Gly)
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup) rs757679761
NM_003126.4(SPTA1):c.4833G>A (p.Arg1611=) rs145288947
NM_003126.4(SPTA1):c.4875+12C>T rs139797540
NM_003126.4(SPTA1):c.5431C>T (p.Arg1811Ter)
NM_003126.4(SPTA1):c.5834-18A>G
NM_003126.4(SPTA1):c.6121-11del rs548425429
NM_003126.4(SPTA1):c.6533C>T (p.Ala2178Val)
NM_003126.4(SPTA1):c.6549-12G>A rs857716
NM_003126.4(SPTA1):c.6789-8del rs5778083
NM_003126.4(SPTA1):c.83G>T (p.Arg28Leu) rs121918641
NM_003126.4(SPTA1):c.853C>A (p.Pro285Thr) rs150007668
NM_003200.5(TCF3):c.888C>T (p.Ala296=) rs34203855
NM_003238.6(TGFB2):c.510+12TTG[11] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[13] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[9] rs10482769
NM_003238.6(TGFB2):c.821dup (p.Asn274fs) rs863223796
NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys) rs869312903
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys) rs1553303352
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) rs193922660
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.383del (p.Lys128fs) rs79375991
NM_003322.6(TULP1):c.915G>A (p.Val305=) rs1040415272
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup) rs398123707
NM_003482.4(KMT2D):c.11738AGC[6] (p.Gln3919del) rs576788910
NM_003482.4(KMT2D):c.12793G>A (p.Gly4265Ser)
NM_003482.4(KMT2D):c.2798-7del rs112620957
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu) rs201623566
NM_003500.4(ACOX2):c.461_464del (p.Thr154fs) rs34391522
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln) rs149845612
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862
NM_003718.5(CDK13):c.2251C>T (p.Arg751Ter) rs1295790880
NM_003849.4(SUCLG1):c.537A>G (p.Gly179=) rs1553393580
NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del) rs771383153
NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del) rs761018157
NM_003978.5(PSTPIP1):c.1207G>C (p.Gly403Arg) rs369113632
NM_003978.5(PSTPIP1):c.1221C>A (p.Phe407Leu) rs200363654
NM_004004.6(GJB2):c.11del (p.Gly4fs) rs1555342014
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004006.3(DMD):c.170T>G (p.Leu57Arg) rs886044431
NM_004006.3(DMD):c.2273A>C (p.Asp758Ala) rs750526692
NM_004006.3(DMD):c.2485C>T (p.Gln829Ter) rs753662330
NM_004006.3(DMD):c.4744G>A (p.Val1582Ile) rs398123965
NM_004006.3(DMD):c.5941dup (p.Thr1981fs)
NM_004006.3(DMD):c.94-9dup rs3834997
NM_004082.5(DCTN1):c.627G>T (p.Pro209=) rs147673066
NM_004168.4(SDHA):c.-7A>C rs751633537
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln) rs35434411
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727
NM_004329.3(BMPR1A):c.355C>T (p.Arg119Cys) rs587782494
NM_004333.6(BRAF):c.608+19G>C rs200908826
NM_004360.5(CDH1):c.1308G>A (p.Leu436=) rs557551011
NM_004360.5(CDH1):c.656del (p.Pro219fs) rs1555515284
NM_004360.5(CDH1):c.820G>A (p.Gly274Ser) rs781513008
NM_004364.5(CEBPA):c.546GCC[6] (p.Pro189del) rs746430067
NM_004364.5(CEBPA):c.572ACCCGC[4] (p.191HP[4]) rs762459325
NM_004415.4(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) rs774763657
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del) rs397516962
NM_004444.5(EPHB4):c.1423-6G>A rs762817852
NM_004444.5(EPHB4):c.2484+1G>A rs927772349
NM_004444.5(EPHB4):c.2590C>T (p.Arg864Trp) rs769965440
NM_004453.4(ETFDH):c.405+3A>G rs796051965
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004612.4(TGFBR1):c.52GCG[12] (p.Ala24_Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52GCG[8] (p.Ala26del) rs11466445
NM_004612.4(TGFBR1):c.707C>T (p.Ser236Phe) rs863223812
NM_004655.4(AXIN2):c.1235A>G (p.Asn412Ser) rs115931022
NM_004655.4(AXIN2):c.1404CCA[7] (p.His474dup) rs570443161
NM_004863.4(SPTLC2):c.162A>C (p.Leu54=) rs115191009
NM_004863.4(SPTLC2):c.723G>T (p.Thr241=) rs114519796
NM_004863.4(SPTLC2):c.761G>C (p.Cys254Ser) rs572378641
NM_004984.4(KIF5A):c.2314C>T (p.Arg772Ter) rs1555178616
NM_004984.4(KIF5A):c.397-16_397-14del rs375316447
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288
NM_005159.5(ACTC1):c.616+5GT[4] rs749539033
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup) rs397507494
NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup) rs3075570
NM_005334.3(HCFC1):c.4638C>T (p.Ala1546=)
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005359.6(SMAD4):c.1447+9G>A rs878854766
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter) rs121909305
NM_005422.4(TECTA):c.5668C>T (p.Arg1890Cys) rs121909063
NM_005475.3(SH2B3):c.1236+4TGGGG[4] rs111340708
NM_005475.3(SH2B3):c.733-11835T>C
NM_005529.7(HSPG2):c.10204G>A (p.Val3402Met) rs150666616
NM_005529.7(HSPG2):c.11685C>G (p.Pro3895=) rs62642501
NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln) rs78944354
NM_005529.7(HSPG2):c.11983T>C (p.Leu3995=)
NM_005529.7(HSPG2):c.12110G>T (p.Arg4037Leu) rs143015575
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
NM_005529.7(HSPG2):c.5997+13del rs529255698
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) rs150129885
NM_005529.7(HSPG2):c.744_745inv (p.Val249Met)
NM_005529.7(HSPG2):c.8336G>A (p.Arg2779Gln) rs529205824
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu) rs147114700
NM_005529.7(HSPG2):c.9329-8_9329-7delinsTT rs386629395
NM_005591.4(MRE11):c.1811G>C (p.Arg604Pro) rs148637964
NM_005609.4(PYGM):c.661-5C>G rs75633423
NM_005633.4(SOS1):c.2167+16del rs79984786
NM_005633.4(SOS1):c.2167+16dup rs79984786
NM_005633.4(SOS1):c.225A>G (p.Gln75=) rs560037748
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
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.1797C>A (p.Val599=) rs71524361
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.2387ACG[3] (p.Asp797dup) rs397517197
NM_006005.3(WFS1):c.350C>T (p.Thr117Met) rs141225426
NM_006031.6(PCNT):c.1083A>G (p.Leu361=) rs758561093
NM_006031.6(PCNT):c.467_505dup (p.His156_Gln168dup) rs587784306
NM_006231.4(POLE):c.2089C>T (p.Pro697Ser) rs5744800
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.3275+12_3275+37del rs1057517627
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006231.4(POLE):c.4952+17_4952+19dup rs571641918
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006258.4(PRKG1):c.546G>A (p.Gly182=) rs73336216
NM_006308.3(HSPB3):c.347G>A (p.Arg116Gln) rs150931007
NM_006308.3(HSPB3):c.347G>C (p.Arg116Pro) rs150931007
NM_006329.4(FBLN5):c.1117C>T (p.Arg373Cys) rs864309526
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006506.5(RASA2):c.657G>A (p.Pro219=) rs34238772
NM_006579.3(EBP):c.-74+3G>C rs188270695
NM_006618.5(KDM5B):c.712-4del rs558975598
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006767.4(LZTR1):c.1785+13_1785+33dup
NM_006790.3(MYOT):c.343G>A (p.Ala115Thr) rs114194130
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe) rs117182113
NM_006892.4(DNMT3B):c.1760-8C>T rs2424926
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006939.4(SOS2):c.2057+19_2057+20del rs111970905
NM_007078.3(LDB3):c.465C>T (p.Leu155=) rs45516997
NM_007078.3(LDB3):c.576G>A (p.Pro192=) rs45543741
NM_007129.5(ZIC2):c.692ACC[10] (p.His239dup) rs398124241
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu) rs587780170
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.616_617del (p.Val206fs) rs1346554630
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007272.3(CTRC):c.-59C>T rs183658182
NM_007272.3(CTRC):c.180C>A (p.Gly60=) rs497078
NM_007272.3(CTRC):c.231-2A>G rs1570783505
NM_007272.3(CTRC):c.480G>A (p.Trp160Ter)
NM_007272.3(CTRC):c.737G>T (p.Arg246Leu) rs147925927
NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del) rs515726210
NM_007294.4(BRCA1):c.1534C>G (p.Leu512Val) rs41286294
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.2232T>G (p.Ala744=) rs4986846
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.2668G>A (p.Gly890Arg) rs80357200
NM_007294.4(BRCA1):c.301+11A>C rs1555596621
NM_007294.4(BRCA1):c.3143G>T (p.Gly1048Val) rs80356899
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_007294.4(BRCA1):c.3600G>C (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.3952A>G (p.Ile1318Val) rs397509121
NM_007294.4(BRCA1):c.4186-10G>A rs80358172
NM_007294.4(BRCA1):c.426C>T (p.Pro142=) rs542687218
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.4(BRCA1):c.441+36_441+49del rs373413425
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln) rs80356988
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala) rs80357132
NM_007294.4(BRCA1):c.5193+1del rs397509236
NM_007294.4(BRCA1):c.5198A>G (p.Asp1733Gly) rs80357270
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.4(BRCA1):c.548-9del rs273902774
NM_007294.4(BRCA1):c.5538G>A (p.Gln1846=) rs80356849
NM_007294.4(BRCA1):c.81-13C>A rs56328013
NM_007294.4(BRCA1):c.81-13C>G rs56328013
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) rs8176153
NM_012062.5(DNM1L):c.436G>A (p.Asp146Asn) rs1057523861
NM_012330.4(KAT6B):c.3289GAA[7] (p.Glu1104del) rs71929101
NM_012472.6(DNAAF11):c.574C>G (p.Gln192Glu) rs141945265
NM_012472.6(DNAAF11):c.974+18G>A rs185791758
NM_013296.5(GPSM2):c.1066G>A (p.Gly356Arg) rs61754640
NM_014000.3(VCL):c.120C>T (p.Leu40=) rs144080529
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014000.3(VCL):c.622+4C>T rs201020802
NM_014049.5(ACAD9):c.1798_1801del (p.Lys600fs) rs917547961
NM_014629.4(ARHGEF10):c.831C>G (p.Asn277Lys) rs756594069
NM_014639.4(SKIC3):c.2578-7_2578-3del rs746874042
NM_014639.4(SKIC3):c.4497-14dup rs755628334
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_014845.6(FIG4):c.2547-5T>G rs200267243
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014920.5(CILK1):c.534C>T (p.Ser178=) rs543243399
NM_014920.5(CILK1):c.831+5del rs200780900
NM_015046.7(SETX):c.5375-18CTT[2] rs201317659
NM_015046.7(SETX):c.7200-10dup rs531485265
NM_015046.7(SETX):c.7200-11_7200-10del rs531485265
NM_015139.3(SLC35D1):c.393-5dup rs5774854
NM_015139.3(SLC35D1):c.398C>T (p.Pro133Leu) rs1558168052
NM_015340.4(LARS2):c.945G>A (p.Ser315=) rs145135580
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) rs150586098
NM_015697.9(COQ2):c.64A>C (p.Arg22=) rs112033303
NM_016156.6(MTMR2):c.184_186del (p.Arg62del) rs141498429
NM_016203.4(PRKAG2):c.1005+8G>C rs1245068890
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His) rs143918373
NM_017553.3(INO80):c.2644A>G (p.Ile882Val)
NM_017553.3(INO80):c.3323T>G (p.Val1108Gly)
NM_017617.5(NOTCH1):c.3262G>A (p.Gly1088Ser) rs531420022
NM_017636.4(TRPM4):c.1459_1494del (p.Lys487_Leu498del) rs878855029
NM_017636.4(TRPM4):c.2766C>A (p.Ile922=) rs774680517
NM_017668.3(NDE1):c.*388del rs543763112
NM_017668.3(NDE1):c.947+11989AG[3] rs747642850
NM_017780.4(CHD7):c.2614-14del rs748282026
NM_018979.4(WNK1):c.5542_5550del (p.Thr1848_Ser1850del) rs544395150
NM_019844.4(SLCO1B3):c.205_209dup (p.Asp70fs) rs558592800
NM_019844.4(SLCO1B3):c.728-4C>G rs759435706
NM_020297.4(ABCC9):c.2644-11G>A rs61926078
NM_020297.4(ABCC9):c.817-18del rs199947733
NM_020297.4(ABCC9):c.817-7del rs193922684
NM_020312.4(COQ9):c.79C>G (p.Arg27Gly) rs140264612
NM_020433.5(JPH2):c.424G>T (p.Gly142Ter) rs765874503
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358
NM_020435.4(GJC2):c.1084G>A (p.Ala362Thr) rs565574386
NM_020435.4(GJC2):c.454GAG[6] (p.Glu158del) rs746050475
NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723_Gly724insGlu) rs113541584
NM_020631.6(PLEKHG5):c.43+14_43+20del rs527883968
NM_020779.4(WDR35):c.1058G>C (p.Arg353Pro) rs76623454
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) rs77316810
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_021625.5(TRPV4):c.1412_1414del (p.Phe471del) rs515726154
NM_021625.5(TRPV4):c.1825-15C>G rs200602134
NM_021922.3(FANCE):c.387A>C (p.Pro129=) rs4713867
NM_021939.4(FKBP10):c.1256+17dup rs55720039
NM_021939.4(FKBP10):c.246-5C>G rs140027863
NM_021939.4(FKBP10):c.392-2A>G rs1555616334
NM_022124.6(CDH23):c.1087del (p.Val363fs) rs747955135
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=) rs111033487
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_022356.4(P3H1):c.2055+13C>G rs76628300
NM_022489.4(INF2):c.1582C>T (p.Pro528Ser) rs181694819
NM_024009.3(GJB3):c.109G>A (p.Val37Met) rs148388884
NM_024009.3(GJB3):c.652_663del (p.Leu218_Asp221del) rs727503069
NM_024334.3(TMEM43):c.512+19G>T rs114026215
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu) rs201517977
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024577.4(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe) rs863224780
NM_024589.3(ROGDI):c.117+10C>G rs113858060
NM_024675.4(PALB2):c.212-10del rs766487430
NM_024675.4(PALB2):c.2607C>T (p.Ser869=) rs45542234
NM_024753.5(TTC21B):c.114C>G (p.Val38=) rs34486024
NM_024753.5(TTC21B):c.3519T>C (p.Thr1173=) rs115504901
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=) rs115504901
NM_025114.4(CEP290):c.1825-17CT[2] rs367600498
NM_025132.4(WDR19):c.553C>G (p.Gln185Glu) rs769602871
NM_030962.4(SBF2):c.3292C>G (p.Leu1098Val) rs117957652
NM_031475.3(ESPN):c.1797_1808del (p.Pro602_Pro605del) rs548962140
NM_031475.3(ESPN):c.702C>G (p.Ser234=) rs367944375
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) rs41302834
NM_032119.4(ADGRV1):c.7150C>T (p.Arg2384Trp) rs377475657
NM_032415.7(CARD11):c.224G>A (p.Arg75Gln) rs1064795280
NM_032444.4(SLX4):c.1163+10C>T rs80116508
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp) rs149887823
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1]) rs397517465
NM_033056.4(PCDH15):c.5363TTCCTC[1] (p.1788LP[1]) rs779691085
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047
NM_033380.3(COL4A5):c.2696G>A (p.Gly899Asp) rs281874702
NM_033380.3(COL4A5):c.4709G>C (p.Cys1570Ser) rs104886287
NM_033409.4(SLC52A3):c.705C>T (p.Leu235=) rs3746806
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.4(MYLK):c.260G>A (p.Gly87Glu) rs368325180
NM_053025.4(MYLK):c.4289-10dup rs41431347
NM_053025.4(MYLK):c.588+13_588+16del rs570821069
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln) rs199866657
NM_138691.3(TMC1):c.238GAA[3] (p.Glu83del) rs376040866
NM_144573.4(NEXN):c.1671GGA[3] (p.Glu562del) rs397517848
NM_144687.4(NLRP12):c.1952C>A (p.Ser651Ter) rs781361326
NM_144687.4(NLRP12):c.2754G>A (p.Leu918=) rs61741347
NM_144687.4(NLRP12):c.2830C>A (p.Arg944=) rs104895570
NM_144687.4(NLRP12):c.3088C>G (p.Arg1030Gly) rs201619538
NM_144997.7(FLCN):c.1432+1G>A rs755959303
NM_144997.7(FLCN):c.189del (p.Ala64fs) rs876660611
NM_144997.7(FLCN):c.75G>A (p.Leu25=) rs200350612
NM_144997.7(FLCN):c.871+22C>T
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.802-17TTC[4] rs370315662
NM_153809.2(TAF1L):c.3797C>G (p.Pro1266Arg)
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup) rs35574083
NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup) rs35574083
NM_175914.5(HNF4A):c.224+17dup rs371937621
NM_177438.3(DICER1):c.145-22dup rs558991368
NM_177438.3(DICER1):c.4254GGA[2] (p.Glu1420del) rs544960260
NM_181332.3(NLGN4X):c.1779C>G (p.Leu593=) rs3747334
NM_182916.3(TRNT1):c.810_811insAAACTT (p.Pro270_Ala271insLysLeu) rs527331900
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu) rs149901087
NM_194248.3(OTOF):c.510-7del
NM_194248.3(OTOF):c.5479C>T (p.Arg1827Trp) rs142748621
NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser) rs62640381
NM_198681.4(PLEKHG5):c.-120C>T rs201669114
NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu) rs137886839
NM_206933.4(USH2A):c.9258+3T>C rs1553268427
NM_213599.3(ANO5):c.295-8dup rs778435515
UGT1A1*28 rs3064744
UGT1A1*36 rs3064744
UGT1A1*37 rs3064744

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