ClinVar Miner

Variants from Genome Diagnostics Laboratory, University Medical Center Utrecht with conflicting interpretations

Location: Netherlands  Primary collection method: clinical testing
Minimum review status of the submission from Genome Diagnostics Laboratory, University Medical Center Utrecht: Collection method of the submission from Genome Diagnostics Laboratory, University Medical Center Utrecht:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
56 2909 4 5223 1323 22 174 5934

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
Genome Diagnostics Laboratory, University Medical Center Utrecht pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective other
pathogenic 4 236 44 2 3 0 3 1 3
likely pathogenic 92 0 40 3 0 0 0 0 0
uncertain significance 16 23 0 107 14 0 1 0 0
likely benign 13 18 995 0 3031 0 1 2 1
benign 14 10 216 1867 0 4 1 1 7

Submitter to submitter summary #

Total submitters: 199
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 3477 0 1580 224 0 38 1842
Mayo Clinic Laboratories, Mayo Clinic 0 2048 0 898 98 0 7 1003
Clinical Genetics, Academic Medical Center 0 1654 0 992 0 0 0 992
Breakthrough Genomics, Breakthrough Genomics 0 1748 0 932 23 0 0 955
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1312 0 816 101 0 10 927
Eurofins Ntd Llc (ga) 0 1174 0 499 397 9 15 920
CeGaT Center for Human Genetics Tuebingen 0 2286 0 767 115 0 22 904
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 3993 0 813 4 0 1 818
Labcorp Genetics (formerly Invitae), Labcorp 0 1207 1 743 53 1 13 811
PreventionGenetics, part of Exact Sciences 0 2537 0 694 69 0 10 773
Genetic Services Laboratory, University of Chicago 0 629 0 493 118 0 3 614
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1283 0 486 83 1 5 575
Athena Diagnostics 0 733 0 538 33 0 0 571
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 910 0 556 0 0 0 556
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 2046 0 486 0 0 0 486
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1052 0 350 108 0 10 468
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1721 0 465 0 0 0 465
Ambry Genetics 0 1235 0 300 98 0 24 421
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 620 0 266 21 0 2 289
Illumina Laboratory Services, Illumina 0 371 0 169 75 0 3 246
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 632 0 195 0 0 0 195
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 238 0 116 21 0 1 138
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 194 0 71 22 0 2 95
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 206 0 60 33 0 0 93
Quest Diagnostics Nichols Institute San Juan Capistrano 0 128 0 74 18 0 1 93
Department of Pathology and Laboratory Medicine, Sinai Health System 0 97 0 27 48 0 7 82
Revvity Omics, Revvity 0 209 0 22 50 0 10 82
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 141 0 67 2 0 1 70
Breast Cancer Information Core (BIC) (BRCA2) 0 44 0 3 52 0 4 59
Fulgent Genetics, Fulgent Genetics 0 118 0 44 7 0 1 52
Genome-Nilou Lab 0 136 0 48 2 0 0 50
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 21 0 7 38 0 3 48
Mendelics 0 69 0 42 3 0 0 45
Counsyl 0 85 0 37 6 0 0 43
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 39 0 11 31 0 0 42
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 45 0 32 9 0 0 41
OMIM 0 46 3 3 10 8 16 40
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 80 0 30 4 0 0 34
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 128 0 32 0 0 0 32
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 40 0 27 0 0 2 29
Michigan Medical Genetics Laboratories, University of Michigan 0 58 0 24 3 0 0 27
Natera, Inc. 0 75 0 26 1 0 0 27
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 124 0 26 0 0 0 26
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 64 0 23 0 0 0 23
Sharing Clinical Reports Project (SCRP) 0 69 0 20 3 0 0 23
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino 0 3 0 1 2 0 19 22
Blueprint Genetics 0 27 0 10 8 0 2 20
Breast Cancer Information Core (BIC) (BRCA1) 0 29 0 0 17 0 1 18
Dasa 0 121 0 17 0 0 1 18
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 16 0 1 15 0 0 16
All of Us Research Program, National Institutes of Health 0 37 0 10 2 0 3 15
Clinical Genetics Laboratory, Skane University Hospital Lund 0 70 0 15 0 0 0 15
Institute of Human Genetics, University of Leipzig Medical Center 0 40 0 8 4 0 2 14
BRCAlab, Lund University 0 43 0 13 0 0 0 13
Myriad Genetics, Inc. 0 22 0 13 0 0 0 13
AiLife Diagnostics, AiLife Diagnostics 0 42 0 8 0 0 4 12
Pathway Genomics 0 10 0 12 0 0 0 12
Centre of Medical Genetics, University Hospital Muenster 0 17 0 4 5 0 2 11
Leiden Open Variation Database 0 13 0 6 3 0 2 11
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 140 0 10 0 0 0 10
Clinical Genetics and Genomics, Karolinska University Hospital 0 32 0 6 0 0 3 9
Color Diagnostics, LLC DBA Color Health 0 20 0 8 0 0 1 9
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 12 0 9 0 0 0 9
Dubai Health Genomic Medicine Center, Dubai Health 0 26 0 6 2 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 10 0 4 3 0 1 8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 51 0 6 0 0 1 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 34 0 5 0 0 2 7
RettBASE 0 13 0 7 0 0 0 7
Variantyx, Inc. 0 31 0 7 0 0 0 7
CSER _CC_NCGL, University of Washington 0 6 0 1 5 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 16 0 2 3 0 1 6
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 7 0 2 4 0 0 6
ClinPGx 0 0 0 0 0 5 0 5
Department of Medical Genetics, University Hospital of North Norway 0 0 0 4 1 0 0 5
Department of Ophthalmology and Visual Sciences Kyoto University 0 2 0 5 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 24 0 3 2 0 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 8 0 3 2 0 0 5
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 16 0 3 1 0 0 4
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 0 7 0 4 0 0 0 4
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 0 2 2 0 0 4
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 19 0 2 0 0 2 4
Gharavi Laboratory, Columbia University 0 13 0 2 1 0 1 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 24 0 3 1 0 0 4
Phosphorus, Inc. 0 3 0 2 2 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 33 0 2 0 0 2 4
3billion 0 29 0 3 0 0 0 3
Baylor Genetics 0 52 0 2 1 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 6 0 3 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 8 0 3 0 0 0 3
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 0 7 0 2 0 0 1 3
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 4 0 3 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 10 0 3 0 0 0 3
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 0 0 2 0 1 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 0 0 0 3 3
MGZ Medical Genetics Center 0 14 0 3 0 0 0 3
Molecular Genetics and Enzymology, National Research Centre 0 0 0 0 2 0 1 3
NHS Central & South Genomic Laboratory Hub 0 7 0 2 1 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 4 0 2 0 0 1 3
New York Genome Center 0 7 0 1 2 0 0 3
SIB Swiss Institute of Bioinformatics 0 4 0 3 0 0 0 3
Center for Personalized Medicine, Children's Hospital Los Angeles 0 6 0 0 1 0 1 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 2 0 1 1 0 0 2
Clinical Genetics Laboratory, Region Ostergotland 0 3 0 2 0 0 0 2
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 0 2 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 7 0 1 1 0 0 2
Department of Medical and Surgical Sciences, University of Bologna 0 2 0 2 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 8 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 6 0 2 0 0 0 2
Eye Genetics Research Group, Children's Medical Research Institute 0 0 0 0 2 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 16 0 2 0 0 0 2
Genomenon, Inc, Genomenon, Inc 0 3 0 2 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 2 0 0 0 2
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 3 0 1 1 0 0 2
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 0 0 2 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 6 0 2 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 0 11 0 2 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 7 0 2 0 0 0 2
LDLR-LOVD, British Heart Foundation 0 0 0 2 0 0 0 2
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 0 1 1 0 0 2
Molecular Endocrinology Laboratory, Christian Medical College 0 1 0 1 1 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 11 0 2 0 0 0 2
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 2 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 4 0 1 0 0 1 2
Robarts Research Institute, Western University 0 0 0 2 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 1 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 4 0 2 0 0 0 2
deCODE genetics, Amgen 0 1 0 2 0 0 0 2
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 2 0 0 0 0 1 1
Albrecht-Kossel-Institute, Medical University Rostock 0 0 0 0 0 1 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 0 0 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
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 0 0 1 0 0 0 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 0 0 1 0 0 0 1
Cardiovascular Biomarker Research Laboratory, Mayo Clinic 0 0 0 0 1 0 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 3 0 1 0 0 0 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 0 0 1 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 3 0 1 0 0 0 1
ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1
ClinGen PAH Variant Curation Expert Panel 0 11 0 1 0 0 0 1
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 0 0 0 1 0 0 0 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 0 0 0 1 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 0 0 1 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 4 0 0 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 6 0 0 1 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 36 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 8 0 1 0 0 0 1
Department of Neurology, Children’s Hospital of Chongqing Medical University 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 0 0 1 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 0 0 1 0 0 0 1
Dipartimento Di Medicina Di Precisione, Università Degli Studi Della Campania Luigi Vanvitelli 0 0 0 1 0 0 0 1
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 0 0 0 0 0 0 1 1
Foundation Medicine, Inc. 0 0 0 0 1 0 0 1
GENinCode PLC 0 1 0 1 0 0 0 1
GeneKor MSA 0 10 0 1 0 0 0 1
GeneReviews 0 17 0 0 0 0 1 1
Genesis Genomics 0 5 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 8895 3 0 1 0 0 0 1
H3Africa Consortium 0 2 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 4 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 12 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 4 0 1 0 0 0 1
Human Genetics Research Lab, Central University of Jammu 0 0 0 1 0 0 0 1
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 0 0 0 0 1 0 0 1
Imperial College London Diabetes Centre, Mubadala Healthcare 0 0 0 0 0 0 1 1
Inherited Neuropathy Consortium 0 0 0 0 1 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 0 0 1 0 0 0 1
Institute of Clinical Molecular Biology, Kiel University 0 0 0 0 0 0 1 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 2 0 0 1 0 0 1
Institute of Reproductive Genetics, University of Münster 0 1 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 8 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 7 0 1 0 0 0 1
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 0 0 0 1 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 1 0 1 0 0 0 1
Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse 0 0 0 0 1 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 5 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 9 0 0 0 0 1 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 5 0 1 0 0 0 1
Laboratory of Molecular Genetics, CHU Rennes 0 1 0 1 0 0 0 1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 0 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 4 0 0 0 0 1 1
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 11 0 0 1 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Neurogenetics Laboratory, Gh Pitie Salpetriere Aphp 0 0 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 5 0 1 0 0 0 1
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research 0 1 0 0 0 0 1 1
Paris Brain Institute, Inserm - ICM 0 2 0 0 1 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 0 1 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 3 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 0 1 0 0 1
Suma Genomics 0 1 0 1 0 0 0 1
TilsonLab, Columbia University 0 0 0 0 0 0 1 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 1 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 4 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 2 0 0 1 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 3 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 5934
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005629.4(SLC6A8):c.-5A>G rs384573 1.00000
NM_176787.5(PIGN):c.1117-1= rs9959632 1.00000
NM_000363.5(TNNI3):c.373-10= rs7252610 0.99999
NM_000054.7(AVPR2):c.26-6T>G rs56689668 0.99968
NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala) rs1552311 0.99751
NM_001267550.2(TTN):c.67246G>C (p.Ala22416Pro) rs4145333 0.99572
NM_004977.3(KCNC3):c.188A>G (p.Asp63Gly) rs375912738 0.98789
NM_006790.3(MYOT):c.220= (p.Gln74=) rs6890689 0.98645
NM_000083.3(CLCN1):c.352G>T (p.Gly118Trp) rs10282312 0.98349
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857 0.93013
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln) rs1801726 0.92120
NM_001003841.3(SLC6A19):c.990A>G (p.Thr330=) rs4975629 0.91839
NM_001123385.2(BCOR):c.1260T>C (p.Asp420=) rs5917933 0.91469
NM_198525.3(KIF7):c.195G>C (p.Ala65=) rs8179066 0.90462
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala) rs8037349 0.90195
NM_001814.6(CTSC):c.458T>C (p.Ile153Thr) rs217086 0.87607
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
NM_198525.3(KIF7):c.2658A>C (p.Ala886=) rs3803531 0.85312
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr) rs6911096 0.80856
NM_000335.5(SCN5A):c.87A>G (p.Ala29=) rs6599230 0.80621
NM_001308093.3(GATA4):c.617-113T>C rs3735819 0.80128
NM_004836.7(EIF2AK3):c.439-170A>G rs7571971 0.76936
NM_004836.7(EIF2AK3):c.2110G>T (p.Ala704Ser) rs1805165 0.76783
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_000379.4(XDH):c.3276+12A>G rs1366813 0.75380
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe) rs2366777 0.74245
NM_032119.4(ADGRV1):c.7751A>G (p.Asn2584Ser) rs1878878 0.74010
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile) rs4916684 0.73682
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) rs12623957 0.73040
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690 0.72050
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300 0.71989
NM_000152.5(GAA):c.1327-18A>G rs2278619 0.71811
NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg) rs13045 0.70332
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=) rs9646771 0.69145
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr) rs1494558 0.68368
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68136
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_001164508.2(NEB):c.771T>C (p.Ala257=) rs4611637 0.67903
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_000170.3(GLDC):c.*7G>C rs2228098 0.66615
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393 0.65667
NM_000152.5(GAA):c.547-4C>G rs3816256 0.65665
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65654
NM_000152.5(GAA):c.955+12G>A rs2252455 0.65487
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304 0.65453
NM_001018005.2(TPM1):c.453C>A (p.Ala151=) rs1071646 0.65141
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65125
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) rs4673 0.64973
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=) rs6432901 0.63691
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482 0.63686
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu) rs6818847 0.63302
NM_001195248.2(APTX):c.484-13G>T rs10123944 0.62521
NM_000243.3(MEFV):c.942C>T (p.Arg314=) rs224213 0.61804
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764 0.61316
NM_001308093.3(GATA4):c.1000+56C>A rs804280 0.61291
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637 0.60091
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397 0.57872
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691 0.57506
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249 0.57256
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=) rs9672286 0.53592
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg) rs12900805 0.52523
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile) rs3803530 0.52052
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267 0.51379
NM_000257.4(MYH7):c.189C>T (p.Thr63=) rs2069540 0.51373
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=) rs7598901 0.49457
NM_000383.4(AIRE):c.1578T>C (p.Asp526=) rs1133779 0.49286
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_000448.3(RAG1):c.746A>G (p.His249Arg) rs3740955 0.48330
NM_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.47275
NM_199242.3(UNC13D):c.2599A>G (p.Lys867Glu) rs1135688 0.47045
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813 0.46878
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=) rs3747562 0.45408
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44635
NM_001202.6(BMP4):c.455T>C (p.Val152Ala) rs17563 0.43916
NM_025074.7(FRAS1):c.2450C>T (p.Ala817Val) rs6835769 0.43159
NM_000257.4(MYH7):c.2967T>C (p.Ile989=) rs7157716 0.43030
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) rs1131695 0.42930
NM_001177316.2(SLC34A3):c.757T>C (p.Leu253=) rs28407527 0.42407
NM_000552.5(VWF):c.1548T>C (p.Tyr516=) rs1800379 0.41956
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_000249.4(MLH1):c.1668-19A>G rs9876116 0.40808
NM_000552.5(VWF):c.2385T>C (p.Tyr795=) rs1063857 0.40791
NM_000203.5(IDUA):c.60G>A (p.Ala20=) rs10902762 0.40016
NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=) rs767455 0.39963
NM_000552.5(VWF):c.2365A>G (p.Thr789Ala) rs1063856 0.39577
NM_000383.4(AIRE):c.1197T>C (p.Ala399=) rs1800521 0.39210
NM_001003841.3(SLC6A19):c.306T>C (p.Gly102=) rs60992377 0.39132
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583 0.38953
NM_025074.7(FRAS1):c.3151+14_3151+15dup rs398092530 0.38519
NM_001065.4(TNFRSF1A):c.625+10A>G rs1800693 0.38055
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=) rs11675767 0.38033
NM_000439.5(PCSK1):c.1650T>C (p.Asn550=) rs6233 0.38001
G6PD:c.1455-13T>C rs2071429 0.36538
NM_000410.4(HFE):c.340+4T>C rs2071303 0.36484
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748 0.35806
NM_030665.4(RAI1):c.840del (p.Gln280fs) rs34083643 0.35741
NM_033337.3(CAV3):c.99C>T (p.Asn33=) rs1008642 0.35060
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996 0.34979
NM_001123385.2(BCOR):c.1692A>G (p.Ala564=) rs6520618 0.34081
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688 0.33665
NM_001164508.2(NEB):c.13353C>T (p.Ala4451=) rs774726264 0.33333
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys) rs197922 0.32616
NM_203447.4(DOCK8):c.65C>T (p.Ala22Val) rs506121 0.32420
NM_139027.6(ADAMTS13):c.1342C>G (p.Gln448Glu) rs2301612 0.31971
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=) rs3747563 0.31969
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31936
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31913
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774 0.31358
NM_007294.4(BRCA1):c.4485-63C>G rs273900734 0.30900
NM_001492.6(GDF1):c.353C>T (p.Ala118Val) rs4808863 0.30267
NM_000548.5(TSC2):c.5161-10A>C rs1800718 0.30182
NM_201384.3(PLEC):c.4045-4A>G rs7002152 0.30144
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala) rs6647 0.29917
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) rs2229519 0.29724
NM_004836.7(EIF2AK3):c.1791A>G (p.Gln597=) rs1805164 0.27810
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196 0.27177
NM_000074.3(CD40LG):c.410-13T>C rs3092923 0.26957
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.26492
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515 0.25425
NM_198525.3(KIF7):c.3517+6C>T rs74251725 0.25419
NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg) rs11575934 0.25155
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) rs6234 0.24307
NM_000533.5(PLP1):c.609T>C (p.Asp203=) rs1126707 0.24299
NM_004168.4(SDHA):c.619A>C (p.Arg207=) rs6555055 0.24028
NM_004168.4(SDHA):c.684T>C (p.Asn228=) rs2115272 0.24016
NM_033337.3(CAV3):c.123T>C (p.Phe41=) rs13087941 0.23875
NM_002303.6(LEPR):c.1029T>C (p.Ser343=) rs1805134 0.23693
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136 0.23047
NM_004836.7(EIF2AK3):c.1763+6A>T rs6750998 0.22935
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472 0.22903
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.22862
NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr) rs6235 0.22796
NM_014363.6(SACS):c.12304T>C (p.Leu4102=) rs2737699 0.22584
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.22523
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503 0.22240
NM_177438.3(DICER1):c.4206+11del rs58202892 0.21617
NM_000383.4(AIRE):c.681C>T (p.Gly227=) rs1055311 0.21613
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21481
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn) rs8179065 0.21214
NM_000059.4(BRCA2):c.681+56C>T rs2126042 0.21010
NM_014141.6(CNTNAP2):c.1777+10A>G rs2286127 0.20881
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_001100.4(ACTA1):c.130-10G>C rs41271481 0.20392
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813 0.20187
NM_025000.4(DCAF17):c.322-14C>T rs192861143 0.20151
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209 0.19109
NM_014141.6(CNTNAP2):c.3248-4A>G rs3779031 0.18667
NM_000383.4(AIRE):c.588C>T (p.Ser196=) rs878081 0.18544
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His) rs72646967 0.18477
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_170707.4(LMNA):c.1157+16G>A rs534807 0.17703
NM_001370466.1(NOD2):c.721C>T (p.Pro241Ser) rs2066842 0.17678
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964 0.17550
NR_003051.4(RMRP):n.158G>C rs7021463 0.17549
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=) rs34592169 0.17471
NM_001371623.1(TCOF1):c.1578C>T (p.Pro526=) rs2071238 0.17396
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile) rs35813871 0.17153
NM_001267550.2(TTN):c.8902+14del rs573000455 0.17128
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218 0.16987
NM_001123385.2(BCOR):c.4977-4G>T rs5963725 0.16776
NM_001166114.2(PNPLA6):c.1207G>C (p.Ala403Pro) rs17854645 0.16605
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile) rs1805388 0.16468
NM_000552.5(VWF):c.954T>A (p.Asn318Lys) rs1800387 0.15296
NM_000059.4(BRCA2):c.*105A>C rs15869 0.15131
NM_000186.4(CFH):c.2808G>T (p.Glu936Asp) rs1065489 0.14779
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val) rs1545 0.14147
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025 0.14118
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023 0.13336
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg) rs152451 0.12980
NM_000548.5(TSC2):c.482-3C>T rs1800720 0.12927
NM_006493.4(CLN5):c.-144C>T rs77416795 0.12832
NM_000265.7(NCF1):c.345C>T (p.Leu115=) rs17356100 0.12720
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056 0.12106
NM_005535.3(IL12RB1):c.467G>A (p.Arg156His) rs11575926 0.11978
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022 0.11855
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) rs641153 0.11820
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552 0.11428
NM_001164508.2(NEB):c.11077-4G>T rs878924060 0.11336
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946 0.11020
NM_000431.4(MVK):c.155G>A (p.Ser52Asn) rs7957619 0.10996
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725 0.10965
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_014141.6(CNTNAP2):c.2256-6A>T rs10240482 0.10641
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138 0.10620
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793 0.10553
NM_000383.4(AIRE):c.1095+6G>A rs1800525 0.10544
NM_003283.6(TNNT1):c.129-9T>G rs67795913 0.10318
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000492.4(CFTR):c.1210-13G>T rs10229820 0.09791
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496 0.09748
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989 0.09513
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu) rs143793502 0.09373
NM_018668.5(VPS33B):c.151C>A (p.Arg51=) rs11542638 0.09363
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) rs11479 0.09354
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met) rs2306942 0.09135
NM_021023.6(CFHR3):c.721C>T (p.Pro241Ser) rs138675433 0.09012
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly) rs3729856 0.08851
NM_001126108.2(SLC12A3):c.2711G>A (p.Arg904Gln) rs11643718 0.08543
NM_000516.7(GNAS):c.555C>T (p.Ile185=) rs8620 0.08427
NM_001365276.2(TNXB):c.3764G>A (p.Arg1255His) rs12211410 0.08362
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.08263
NM_033337.3(CAV3):c.27C>T (p.Leu9=) rs1974763 0.08242
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg) rs35548026 0.08193
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877 0.08050
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412 0.07986
NM_000186.4(CFH):c.3019G>T (p.Val1007Leu) rs534399 0.07904
NM_001267550.2(TTN):c.106275G>C (p.Gly35425=) rs56207956 0.07828
NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln) rs12968116 0.07804
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=) rs1861050 0.07770
NM_000222.3(KIT):c.1621A>C (p.Met541Leu) rs3822214 0.07727
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254 0.07594
NM_000137.4(FAH):c.267G>C (p.Leu89=) rs33929922 0.07529
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07451
NM_003476.5(CSRP3):c.336G>A (p.Ala112=) rs13451 0.07238
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07211
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu) rs6723526 0.07129
NM_003865.3(HESX1):c.374A>G (p.Asn125Ser) rs9878928 0.07043
NM_001009944.3(PKD1):c.4195T>C (p.Trp1399Arg) rs116092985 0.07036
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg) rs28711516 0.06950
NM_032119.4(ADGRV1):c.5780C>T (p.Thr1927Met) rs17544552 0.06931
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn) rs17849848 0.06910
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly) rs72657698 0.06836
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06567
NM_022437.3(ABCG8):c.55G>C (p.Asp19His) rs11887534 0.06566
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_001365536.1(SCN9A):c.3802-4A>G rs75230218 0.06537
NM_000257.4(MYH7):c.*113G>A rs17794387 0.06449
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_000335.5(SCN5A):c.274-24C>T rs7627488 0.06378
NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser) rs150688899 0.06159
NM_001379081.2(FREM1):c.3819T>A (p.Asp1273Glu) rs7025814 0.06135
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712 0.06133
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile) rs5743291 0.06122
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801 0.06070
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06023
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) rs3730238 0.05965
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile) rs515299 0.05928
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
NM_001365276.2(TNXB):c.904A>G (p.Thr302Ala) rs1150752 0.05885
NM_001355436.2(SPTB):c.4564-4G>A rs4902312 0.05860
NM_203447.4(DOCK8):c.3230G>A (p.Ser1077Asn) rs34627722 0.05757
NM_000516.7(GNAS):c.1113C>T (p.Asn371=) rs8386 0.05749
NM_016373.4(WWOX):c.517-108230A>G rs77067228 0.05744
NM_001009944.3(PKD1):c.12409C>T (p.Leu4137=) rs79899502 0.05695
NM_000165.5(GJA1):c.*3dup rs397824185 0.05632
NM_000186.4(CFH):c.3138C>T (p.Thr1046=) rs61822181 0.05563
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys) rs79241126 0.05477
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=) rs4894045 0.05415
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg) rs4893853 0.05414
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092 0.05306
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519 0.05277
NM_003036.4(SKI):c.185C>G (p.Ala62Gly) rs28384811 0.05253
NM_004519.4(KCNQ3):c.732T>C (p.Gly244=) rs41272387 0.05125
NM_004519.4(KCNQ3):c.660T>C (p.Asn220=) rs41272389 0.05124
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_004646.4(NPHS1):c.3595-9G>T rs77309273 0.05118
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.05027
NM_206937.2(LIG4):c.8C>T (p.Ala3Val) rs1805389 0.04996
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036 0.04977
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_018129.4(PNPO):c.347G>A (p.Arg116Gln) rs17679445 0.04944
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=) rs28730711 0.04871
NM_014049.5(ACAD9):c.-44_-41dup rs387906242 0.04863
NM_000552.5(VWF):c.3414C>T (p.Asn1138=) rs560397436 0.04853
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042 0.04830
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929 0.04795
NM_000487.6(ARSA):c.1493G>A (p.Arg498His) rs6151428 0.04709
NM_032638.5(GATA2):c.564G>C (p.Thr188=) rs34870876 0.04681
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758 0.04663
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405 0.04656
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu) rs2295837 0.04647
NM_001854.4(COL11A1):c.2043+8G>A rs2622875 0.04635
NM_002230.4(JUP):c.1653+10C>A rs73983658 0.04634
NM_000070.3(CAPN3):c.2380+12del rs28364538 0.04623
NM_005419.4(STAT2):c.1782G>C (p.Met594Ile) rs2066807 0.04605
NM_182961.4(SYNE1):c.5190T>A (p.Asp1730Glu) rs111250109 0.04561
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=) rs2228490 0.04552
NM_001267550.2(TTN):c.88272G>A (p.Glu29424=) rs9808036 0.04549
NM_001267550.2(TTN):c.98912G>A (p.Arg32971His) rs4894028 0.04459
NM_004113.6(FGF12):c.229-7C>T rs79608878 0.04458
NM_005477.3(HCN4):c.107G>A (p.Gly36Glu) rs143090627 0.04452
NM_000552.5(VWF):c.8113G>A (p.Gly2705Arg) rs7962217 0.04445
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04394
NM_001105206.3(LAMA4):c.460C>T (p.Arg154Trp) rs11757455 0.04393
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_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405 0.04370
NM_001103.4(ACTN2):c.1296G>A (p.Ala432=) rs35956798 0.04366
NM_001130987.2(DYSF):c.3575-17C>T rs13421969 0.04340
NM_032122.5(DTNBP1):c.814C>T (p.Pro272Ser) rs17470454 0.04338
NM_005677.4(COLQ):c.366+7A>G rs750387 0.04329
NM_000310.4(PPT1):c.401T>C (p.Ile134Thr) rs1800205 0.04289
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315 0.04283
NM_153704.6(TMEM67):c.406+1361C>T rs73324992 0.04251
NM_001164508.2(NEB):c.20467-4T>A rs199791504 0.04241
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val) rs77469944 0.04236
NM_032977.4(CASP10):c.1228G>A (p.Val410Ile) rs13010627 0.04193
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04192
NM_015102.5(NPHP4):c.86C>T (p.Thr29Met) rs12142270 0.04168
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359 0.04130
NM_005263.5(GFI1):c.107G>A (p.Ser36Asn) rs34631763 0.04129
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418 0.04117
NM_014141.6(CNTNAP2):c.2099-15T>C rs75858942 0.04109
NM_000059.4(BRCA2):c.426-89T>C rs3783265 0.04105
NM_000059.4(BRCA2):c.9257-83G>A rs9595456 0.04086
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_000335.5(SCN5A):c.2788-6C>T rs41260344 0.04041
NM_000081.4(LYST):c.3989A>C (p.Asp1330Ala) rs74641549 0.04030
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998 0.04030
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425 0.04013
NM_000043.6(FAS):c.46G>A (p.Ala16Thr) rs3218619 0.03995
NM_001009944.3(PKD1):c.10225G>C (p.Val3409Leu) rs61747420 0.03980
NM_000381.4(MID1):c.661-6G>T rs868267567 0.03935
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_001035.3(RYR2):c.13564-41A>G rs114289907 0.03849
NM_001165963.4(SCN1A):c.2176+17A>G rs59251406 0.03846
NM_174934.4(SCN4B):c.174C>T (p.Cys58=) rs45539032 0.03816
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862 0.03791
NM_201384.3(PLEC):c.718+10C>T rs12545876 0.03717
NM_000059.4(BRCA2):c.425+67A>C rs11571610 0.03705
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03694
NM_001134888.3(RTL1):c.3323G>A (p.Arg1108Gln) rs117476938 0.03687
NM_080425.4(GNAS):c.627G>A (p.Lys209=) rs74934823 0.03663
NM_007259.5(VPS45):c.246T>G (p.Ile82Met) rs62622370 0.03643
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala) rs9014 0.03641
NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=) rs17846714 0.03612
NM_001611.5(ACP5):c.661G>A (p.Val221Ile) rs2229532 0.03581
NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val) rs34540355 0.03580
NM_032545.4(CFC1):c.588C>A (p.Pro196=) rs587780885 0.03574
NM_019066.5(MAGEL2):c.3151C>A (p.Leu1051Ile) rs2233070 0.03565
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03519
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser) rs3742030 0.03470
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val) rs16866531 0.03468
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463 0.03431
NM_005297.4(MCHR1):c.100G>A (p.Gly34Arg) rs11914085 0.03430
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529 0.03418
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03411
NM_013275.6(ANKRD11):c.6787C>T (p.Pro2263Ser) rs76793093 0.03409
NM_000363.5(TNNI3):c.198G>A (p.Glu66=) rs3729710 0.03372
NM_001164508.2(NEB):c.16284+11A>G rs367881797 0.03368
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636 0.03364
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_000552.5(VWF):c.6798+14C>T rs7315124 0.03357
NM_002739.5(PRKCG):c.285C>T (p.Asp95=) rs17854523 0.03329
NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser) rs16995209 0.03324
NM_000063.6(C2):c.954G>C (p.Glu318Asp) rs9332739 0.03307
NM_001927.4(DES):c.736-35C>A rs41272701 0.03306
NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln) rs2066518 0.03294
NM_001710.6(CFB):c.504G>A (p.Pro168=) rs4151669 0.03288
NM_025243.4(SLC19A3):c.520G>A (p.Val174Ile) rs59736804 0.03276
NM_001171.6(ABCC6):c.346-6G>A rs55778939 0.03265
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419 0.03262
NM_000702.4(ATP1A2):c.1652-11C>G rs17846713 0.03261
NM_000062.3(SERPING1):c.-21T>C rs28362944 0.03250
NM_033380.3(COL4A5):c.3519T>G (p.Gly1173=) rs61735627 0.03239
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017 0.03238
NM_003476.5(CSRP3):c.150G>A (p.Ala50=) rs7124801 0.03207
NM_000439.5(PCSK1):c.661A>G (p.Asn221Asp) rs6232 0.03201
NM_002087.4(GRN):c.384T>C (p.Asp128=) rs25646 0.03192
NM_013964.5(NRG1):c.781G>T (p.Val261Leu) rs74942016 0.03191
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03150
NM_002230.4(JUP):c.405C>T (p.Asp135=) rs17850807 0.03129
NM_182914.3(SYNE2):c.10567A>C (p.Lys3523Gln) rs35203186 0.03124
NM_015346.4(ZFYVE26):c.7232G>A (p.Arg2411His) rs34373049 0.03090
NM_053025.4(MYLK):c.4620-12G>A rs41301337 0.03066
NM_006904.7(PRKDC):c.999G>A (p.Met333Ile) rs8178017 0.03054
NM_000342.4(SLC4A1):c.1249C>T (p.Leu417=) rs5015 0.03041
NM_001128178.3(NPHP1):c.771+39C>T rs73954628 0.03028
NM_001379110.1(SLC9A6):c.1689C>T (p.Ser563=) rs2307131 0.03011
NM_001164508.2(NEB):c.19102-6C>T rs145127681 0.03008
NM_002474.3(MYH11):c.792T>C (p.Tyr264=) rs34341838 0.03006
NM_000540.3(RYR1):c.2871-5C>T rs45585535 0.03001
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02972
NM_014476.6(PDLIM3):c.379G>A (p.Val127Met) rs11944325 0.02959
NM_016341.4(PLCE1):c.1405T>A (p.Ser469Thr) rs17508082 0.02936
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_002661.5(PLCG2):c.2054+7G>A rs138158454 0.02918
NM_000335.5(SCN5A):c.100C>T (p.Arg34Cys) rs6791924 0.02895
NM_004168.4(SDHA):c.113A>T (p.Asp38Val) rs34635677 0.02888
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp) rs1800278 0.02886
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val) rs41305353 0.02876
NM_000081.4(LYST):c.7137A>C (p.Leu2379=) rs61738992 0.02868
NM_198525.3(KIF7):c.2043T>A (p.Val681=) rs72750755 0.02861
NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala) rs34536443 0.02850
NM_004415.4(DSP):c.423-16_423-15insC rs113028223 0.02847
NM_015102.5(NPHP4):c.1631C>G (p.Ala544Gly) rs12093500 0.02840
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=) rs61741123 0.02836
NM_000051.4(ATM):c.3403-15T>A rs79701258 0.02833
NM_002354.3(EPCAM):c.492-5T>C rs78608315 0.02826
NM_001458.5(FLNC):c.2390-13C>T rs78086167 0.02793
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_001458.5(FLNC):c.5669-12C>T rs79790270 0.02786
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp) rs1800273 0.02767
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_001164508.2(NEB):c.4407G>C (p.Glu1469Asp) rs34800215 0.02746
NM_000290.4(PGAM2):c.341T>G (p.Ile114Ser) rs61756062 0.02732
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626 0.02731
NM_007078.3(LDB3):c.1074C>T (p.Ala358=) rs45459491 0.02721
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val) rs35077384 0.02717
NM_002661.5(PLCG2):c.731A>G (p.His244Arg) rs11548656 0.02717
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_000092.5(COL4A4):c.2165-15T>G rs60344965 0.02703
NM_006883.2(SHOX):c.-512C>A rs113313554 0.02703
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144 0.02702
NM_004820.5(CYP7B1):c.971G>A (p.Arg324His) rs59035258 0.02701
NM_001849.4(COL6A2):c.679G>A (p.Asp227Asn) rs35881321 0.02685
NM_003240.5(LEFTY2):c.857C>T (p.Pro286Leu) rs2295418 0.02669
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr) rs115532916 0.02662
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02618
NM_002661.5(PLCG2):c.770A>T (p.His257Leu) rs45443101 0.02615
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915 0.02614
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=) rs34509421 0.02602
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114 0.02597
NM_213599.3(ANO5):c.2521-13A>G rs76850415 0.02594
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179 0.02582
NM_020297.4(ABCC9):c.2424+9T>C rs11835804 0.02576
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.2459-9T>G rs115373018 0.02566
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821 0.02553
NM_024334.3(TMEM43):c.163-14C>T rs113745859 0.02553
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075 0.02537
NM_000466.3(PEX1):c.3439-14_3439-13del rs150005994 0.02536
NM_000092.5(COL4A4):c.2276C>T (p.Pro759Leu) rs36121515 0.02529
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) rs45516100 0.02529
NM_001323289.2(CDKL5):c.555-19C>G rs75057928 0.02527
NM_001386125.1(OBSCN):c.2894G>A (p.Arg965Lys) rs61560753 0.02514
NM_024496.4(IRF2BPL):c.336_346del (p.Gln113fs) rs776735350 0.02512
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_000310.4(PPT1):c.837G>C (p.Gln279His) rs72937434 0.02506
NM_006790.3(MYOT):c.149A>G (p.Gln50Arg) rs34717730 0.02506
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874 0.02502
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671 0.02500
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_182895.5(SCARF2):c.1967C>T (p.Pro656Leu) rs9680797 0.02487
NM_006493.4(CLN5):c.87C>G (p.Ala29=) rs138037471 0.02484
NM_019892.6(INPP5E):c.33C>G (p.Ser11=) rs79161998 0.02475
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713 0.02472
NM_001164508.2(NEB):c.19732-6C>T rs11894996 0.02451
NM_004415.4(DSP):c.273+10C>T rs56148603 0.02451
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288 0.02435
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768 0.02431
NM_000069.3(CACNA1S):c.2063+7G>T rs79984703 0.02430
NM_000054.7(AVPR2):c.35G>A (p.Gly12Glu) rs2071126 0.02429
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=) rs34181055 0.02427
NM_001134363.3(RBM20):c.1801-11G>C rs12572941 0.02426
NM_000138.5(FBN1):c.7819+8A>C rs363838 0.02425
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln) rs8187801 0.02405
NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp) rs61735268 0.02395
NM_002470.4(MYH3):c.5457+3G>A rs200954595 0.02391
NM_013266.4(CTNNA3):c.1655C>T (p.Thr552Met) rs61737718 0.02389
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692 0.02384
NM_148919.4(PSMB8):c.22G>A (p.Gly8Arg) rs114772012 0.02384
NM_006846.4(SPINK5):c.2915A>G (p.His972Arg) rs17705005 0.02380
NM_022437.3(ABCG8):c.239G>A (p.Cys80Tyr) rs80025980 0.02377
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02377
NM_000093.5(COL5A1):c.1935+8T>G rs79195626 0.02373
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His) rs72648970 0.02369
NM_001035.3(RYR2):c.8437-7dup rs148246251 0.02365
NM_001242896.3(DEPDC5):c.3358A>G (p.Met1120Val) rs61731662 0.02356
NM_001377.3(DYNC2H1):c.4728C>G (p.Asn1576Lys) rs72989738 0.02353
NM_001164508.2(NEB):c.612+8T>C rs113095802 0.02350
NM_001035.3(RYR2):c.9449+8T>A rs60777199 0.02348
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu) rs13021201 0.02340
NM_182961.4(SYNE1):c.6470A>G (p.Lys2157Arg) rs75989452 0.02333
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr) rs41311343 0.02332
NM_005159.5(ACTC1):c.927T>C (p.Pro309=) rs2307493 0.02329
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=) rs12373107 0.02325
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=) rs55847232 0.02317
NM_006440.5(TXNRD2):c.374+13C>T rs9606178 0.02314
NM_052989.3(IFT122):c.109-15T>C rs114298924 0.02307
NM_194318.4(B3GLCT):c.1105G>A (p.Gly369Ser) rs34638481 0.02305
NM_001378183.1(PIEZO2):c.4203C>G (p.His1401Gln) rs79261438 0.02303
NM_001361.5(DHODH):c.1022C>T (p.Ala341Val) rs61733129 0.02282
NM_003193.5(TBCE):c.614T>C (p.Val205Ala) rs16832611 0.02282
NM_000334.4(SCN4A):c.3720+10A>G rs111679484 0.02281
NM_003611.3(OFD1):c.2387+11C>T rs140369491 0.02280
NM_001550.4(IFRD1):c.200-14A>C rs11773535 0.02279
NM_203447.4(DOCK8):c.709G>A (p.Glu237Lys) rs11789099 0.02275
NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr) rs7908490 0.02263
NM_003193.5(TBCE):c.1226A>G (p.Glu409Gly) rs16832619 0.02258
NM_080425.4(GNAS):c.1127C>T (p.Pro376Leu) rs61749697 0.02257
NC_000002.12:g.178535859A>G rs202214630 0.02246
NM_005257.6(GATA6):c.43G>C (p.Gly15Arg) rs116262672 0.02238
NM_001164508.2(NEB):c.8466C>T (p.His2822=) rs61730771 0.02236
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn) rs138579182 0.02227
NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr) rs34225933 0.02221
NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln) rs74401238 0.02210
NM_198525.3(KIF7):c.1444-4A>G rs112333674 0.02204
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_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521 0.02188
NM_001267550.2(TTN):c.45738T>C (p.Ala15246=) rs2303829 0.02187
NM_201384.3(PLEC):c.8050C>T (p.Arg2684Trp) rs35723243 0.02185
NM_014855.3(AP5Z1):c.1708-14C>T rs118139547 0.02183
NM_182961.4(SYNE1):c.12442G>C (p.Asp4148His) rs117501809 0.02182
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala) rs28413664 0.02172
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719 0.02170
NM_182961.4(SYNE1):c.2527C>T (p.Arg843Cys) rs34610829 0.02158
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile) rs55675869 0.02155
NM_013964.5(NRG1):c.1062-5C>T rs79223941 0.02148
NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu) rs4802584 0.02143
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn) rs11896293 0.02143
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_000051.4(ATM):c.5497-8T>C rs3092829 0.02129
NM_001364905.1(LRBA):c.5989C>T (p.Arg1997Cys) rs35879351 0.02129
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832 0.02127
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780 0.02113
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000091.5(COL4A3):c.3751+66C>T rs55843236 0.02109
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile) rs76889468 0.02108
NM_001267550.2(TTN):c.67635T>C (p.Val22545=) rs2288570 0.02106
NM_015046.7(SETX):c.498+20G>A rs73659013 0.02106
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
NM_001365536.1(SCN9A):c.3802-8T>C rs76550960 0.02091
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355 0.02090
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys) rs111033430 0.02084
NM_001267550.2(TTN):c.52821T>C (p.Asp17607=) rs2303831 0.02082
NM_198525.3(KIF7):c.216G>A (p.Gln72=) rs113881220 0.02077
NM_001267550.2(TTN):c.51684G>A (p.Ala17228=) rs2288566 0.02055
NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=) rs80338869 0.02054
NM_001267550.2(TTN):c.37040-13A>G rs760603937 0.02053
NM_006231.4(POLE):c.4290+5C>T rs5744936 0.02053
NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe) rs28756990 0.02049
NM_001710.6(CFB):c.672C>T (p.Tyr224=) rs4151670 0.02049
NM_001199107.2(TBC1D24):c.1143-6C>T rs73490287 0.02047
NM_001165963.4(SCN1A):c.1662+9C>A rs7559148 0.02030
NM_001267550.2(TTN):c.86811A>G (p.Val28937=) rs55972010 0.02018
NM_001164508.2(NEB):c.16021T>C (p.Leu5341=) rs796103760 0.02016
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245 0.02014
NM_002292.4(LAMB2):c.306C>T (p.Asn102=) rs79448908 0.02014
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser) rs3813246 0.02011
NM_005765.3(ATP6AP2):c.868G>C (p.Ala290Pro) rs35798522 0.02009
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249 0.02007
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=) rs11694623 0.01999
NM_001267550.2(TTN):c.87087T>C (p.Leu29029=) rs12621078 0.01996
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala) rs56018860 0.01992
NM_001267550.2(TTN):c.91852+8T>A rs56145100 0.01992
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly) rs72648257 0.01992
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr) rs3731745 0.01991
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=) rs3813247 0.01986
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys) rs56057221 0.01984
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=) rs56214710 0.01979
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_153704.6(TMEM67):c.406+1379G>A rs60659894 0.01971
NM_032119.4(ADGRV1):c.7576A>G (p.Ile2526Val) rs75191159 0.01965
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser) rs34927702 0.01962
NM_000059.4(BRCA2):c.7397= (p.Val2466=) rs169547 0.01961
NM_001710.6(CFB):c.1365C>T (p.Val455=) rs2072634 0.01961
NM_145239.3(PRRT2):c.*55C>A rs141436390 0.01961
NM_024306.5(FA2H):c.289C>G (p.Pro97Ala) rs35874850 0.01957
NM_001037.5(SCN1B):c.501T>C (p.Ile167=) rs16969930 0.01942
NM_001148.6(ANK2):c.9900C>A (p.Ser3300Arg) rs34270799 0.01942
NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser) rs117781224 0.01941
NM_033118.4(MYLK2):c.1082+11G>A rs76530988 0.01935
NM_000138.5(FBN1):c.1960+30G>A rs25459 0.01932
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
NM_022489.4(INF2):c.3478G>A (p.Gly1160Ser) rs9672065 0.01930
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr) rs35274867 0.01924
NM_013266.4(CTNNA3):c.478T>A (p.Ser160Thr) rs61749223 0.01916
NM_007294.4(BRCA1):c.5075-53C>T rs8176258 0.01914
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala) rs34154371 0.01899
NM_001364905.1(LRBA):c.2170A>G (p.Ile724Val) rs72719663 0.01896
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) rs36064831 0.01896
NM_001105206.3(LAMA4):c.4173T>C (p.Tyr1391=) rs35042032 0.01889
NM_001365951.3(KIF1B):c.2115+6360G>T rs41274458 0.01885
NM_001035.3(RYR2):c.11557+19C>T rs113408406 0.01877
NM_014476.6(PDLIM3):c.734C>T (p.Thr245Ile) rs62347360 0.01871
NM_003640.5(ELP1):c.959-15C>T rs112114410 0.01858
NM_001267550.2(TTN):c.36952G>A (p.Val12318Ile) rs762149243 0.01857
NM_001182.5(ALDH7A1):c.675C>T (p.Leu225=) rs57902950 0.01855
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_001377.3(DYNC2H1):c.2818+13T>C rs150786504 0.01848
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01847
NM_173689.7(CRB2):c.2680G>A (p.Gly894Ser) rs144714250 0.01838
NM_005529.7(HSPG2):c.6114C>G (p.Ile2038Met) rs116788687 0.01837
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile) rs35445653 0.01835
NM_182914.3(SYNE2):c.12122G>A (p.Arg4041His) rs17101661 0.01834
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile) rs56309296 0.01826
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr) rs56365600 0.01825
NM_022455.5(NSD1):c.2071G>A (p.Ala691Thr) rs28932177 0.01825
NM_022725.4(FANCF):c.825G>A (p.Leu275=) rs36045913 0.01819
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01807
NM_002334.4(LRP4):c.5165T>A (p.Leu1722His) rs117936904 0.01806
NM_018344.6(SLC29A3):c.842T>C (p.Leu281Pro) rs79737301 0.01805
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01796
NM_001130004.2(ACTN1):c.2663C>T (p.Pro888Leu) rs77499007 0.01796
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101 0.01792
NM_002303.6(LEPR):c.1285+20G>A rs13306522 0.01792
NM_000265.7(NCF1):c.496A>G (p.Asn166Asp) rs782555266 0.01786
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg) rs115517108 0.01785
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01782
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701 0.01764
NM_001164508.2(NEB):c.8318G>A (p.Arg2773Gln) rs35974308 0.01764
NM_001199107.2(TBC1D24):c.1526-20C>T rs114367256 0.01755
NM_001039.4(SCNN1G):c.636C>T (p.Ser212=) rs5739 0.01751
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288 0.01748
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val) rs80243096 0.01747
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01739
NM_000083.3(CLCN1):c.2284+5C>T rs74824159 0.01735
NM_001164508.2(NEB):c.23381C>T (p.Ser7794Leu) rs41270201 0.01730
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile) rs61340537 0.01730
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=) rs16029 0.01726
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile) rs56027402 0.01724
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888 0.01724
NM_025132.4(WDR19):c.1357-10T>C rs16995189 0.01716
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000 0.01714
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925 0.01714
NM_199242.3(UNC13D):c.2782C>T (p.Arg928Cys) rs35037984 0.01714
NM_030787.4(CFHR5):c.1067G>A (p.Arg356His) rs35662416 0.01713
NM_014915.3(ANKRD26):c.1564+6T>C rs149655759 0.01710
NM_007214.5(SEC63):c.2027C>T (p.Thr676Ile) rs61733388 0.01699
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054 0.01682
NM_004366.6(CLCN2):c.2154G>C (p.Glu718Asp) rs2228292 0.01679
NM_004006.3(DMD):c.832-17C>A rs72470514 0.01678
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys) rs77697105 0.01678
NM_005676.5(RBM10):c.1891G>C (p.Ala631Pro) rs79693964 0.01666
NM_000092.5(COL4A4):c.3486A>G (p.Pro1162=) rs2229815 0.01659
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) rs5742912 0.01653
NM_001164508.2(NEB):c.21856G>A (p.Asp7286Asn) rs35625617 0.01652
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01651
NM_053025.4(MYLK):c.2533C>T (p.Arg845Cys) rs3732485 0.01645
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851 0.01643
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu) rs34071195 0.01643
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) rs17853166 0.01640
NM_001134831.2(AHI1):c.2624-6A>G rs41288015 0.01635
NM_003466.4(PAX8):c.985T>C (p.Phe329Leu) rs3188996 0.01628
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01627
NM_001164508.2(NEB):c.571G>C (p.Glu191Gln) rs35686968 0.01624
NM_004252.5(NHERF1):c.328C>G (p.Leu110Val) rs35910969 0.01619
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val) rs11568438 0.01617
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_003640.5(ELP1):c.2587+14C>T rs141670242 0.01614
NM_001105206.3(LAMA4):c.280G>A (p.Gly94Ser) rs35349917 0.01613
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NR_001566.3(TERC):n.58G>A rs113487931 0.01607
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401 0.01606
NM_004366.6(CLCN2):c.2063G>A (p.Arg688Gln) rs111656822 0.01603
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg) rs41291187 0.01596
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile) rs2230798 0.01592
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01591
NM_000186.4(CFH):c.477T>C (p.Ser159=) rs34940854 0.01586
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920 0.01583
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01574
NM_014384.3(ACAD8):c.512C>G (p.Ser171Cys) rs113488591 0.01568
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557 0.01565
NM_001134888.3(RTL1):c.2554G>A (p.Ala852Thr) rs112608318 0.01563
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) rs72647875 0.01559
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) rs2229616 0.01559
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250 0.01555
NM_000063.6(C2):c.1922T>C (p.Val641Ala) rs36221133 0.01554
NM_001171.6(ABCC6):c.3507-3C>T rs41278172 0.01548
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038 0.01548
NM_025243.4(SLC19A3):c.42C>T (p.Tyr14=) rs34080459 0.01546
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_000051.4(ATM):c.1636C>G (p.Leu546Val) rs2227924 0.01541
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01532
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val) rs9924241 0.01528
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala) rs28730849 0.01527
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_000642.3(AGL):c.82+1565T>G rs145049634 0.01521
NM_000186.4(CFH):c.245-7G>A rs35814900 0.01517
NM_012452.3(TNFRSF13B):c.659T>C (p.Val220Ala) rs56063729 0.01514
NM_021098.3(CACNA1H):c.5897C>T (p.Ala1966Val) rs72552054 0.01514
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_004006.3(DMD):c.832-18C>G rs72470515 0.01505
NM_001291303.3(FAT4):c.1101A>G (p.Val367=) rs57692448 0.01498
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe) rs33917087 0.01497
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
NM_015338.6(ASXL1):c.374-9C>T rs6087903 0.01488
NM_000393.5(COL5A2):c.1006-9C>T rs73978832 0.01485
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala) rs12493789 0.01481
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys) rs79926414 0.01477
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01473
NM_201384.3(PLEC):c.1706G>A (p.Arg569Gln) rs3135103 0.01472
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748 0.01471
NM_013254.4(TBK1):c.1391T>C (p.Val464Ala) rs35635889 0.01470
NM_198578.4(LRRK2):c.4317+12del rs200829235 0.01470
NM_005902.4(SMAD3):c.870C>T (p.Ile290=) rs117185005 0.01464
NM_017841.4(SDHAF2):c.36+10G>A rs114207859 0.01460
NM_025074.7(FRAS1):c.308A>T (p.Glu103Val) rs78711748 0.01459
NM_025074.7(FRAS1):c.979C>T (p.Arg327Trp) rs61999335 0.01455
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213 0.01453
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677 0.01453
NM_007078.3(LDB3):c.609G>A (p.Ser203=) rs45531131 0.01451
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947 0.01450
NM_005908.4(MANBA):c.2482G>A (p.Val828Ile) rs75826658 0.01449
NM_138387.4(G6PC3):c.416+5A>G rs73306693 0.01443
NM_138387.4(G6PC3):c.647C>T (p.Thr216Ile) rs34406052 0.01442
NM_014140.4(SMARCAL1):c.127G>A (p.Ala43Thr) rs2066524 0.01441
NM_172351.3(CD46):c.1013C>T (p.Ala338Val) rs35366573 0.01439
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097 0.01438
NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val) rs34070843 0.01430
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val) rs16866391 0.01426
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=) rs66523653 0.01416
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252 0.01416
NM_001164508.2(NEB):c.15821A>T (p.Asn5274Ile) rs45612241 0.01414
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys) rs62618736 0.01410
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076 0.01409
NM_000138.5(FBN1):c.3082+6A>G rs79321504 0.01406
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01405
NM_000447.3(PSEN2):c.185G>A (p.Arg62His) rs58973334 0.01404
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala) rs3025962 0.01400
NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met) rs35737219 0.01399
NM_013964.5(NRG1):c.1633C>T (p.Arg545Trp) rs80127039 0.01399
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991 0.01397
NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr) rs61748814 0.01397
NM_152705.3(POLR1D):c.278A>G (p.His93Arg) rs118191175 0.01394
NM_000051.4(ATM):c.2685A>G (p.Leu895=) rs3218687 0.01393
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230 0.01390
NM_019892.6(INPP5E):c.1388-13C>T rs78828148 0.01390
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_001267550.2(TTN):c.40141+7G>A rs77960621 0.01383
NM_001035.3(RYR2):c.1519G>A (p.Val507Ile) rs16835270 0.01378
NM_006493.4(CLN5):c.381T>G (p.Thr127=) rs34481987 0.01377
NM_004153.4(ORC1):c.1115C>T (p.Ala372Val) rs3087476 0.01375
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) rs1801158 0.01373
NM_004168.4(SDHA):c.1776T>C (p.His592=) rs1126538 0.01372
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_001164508.2(NEB):c.11148G>C (p.Met3716Ile) rs149025191 0.01369
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370 0.01365
NM_024422.6(DSC2):c.2251-27C>A rs151289743 0.01365
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_007126.5(VCP):c.18-5T>C rs114256093 0.01353
NM_032545.4(CFC1):c.606G>C (p.Leu202=) rs587780887 0.01351
NM_138694.4(PKHD1):c.11174+11A>G rs115072237 0.01349
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_133379.5(TTN):c.13478A>C (p.Lys4493Thr) rs78457662 0.01346
NM_181882.3(PRX):c.731C>T (p.Ala244Val) rs118071705 0.01346
NM_002838.5(PTPRC):c.1710T>A (p.His570Gln) rs12136658 0.01344
NM_005055.5(RAPSN):c.614G>A (p.Arg205Gln) rs34625105 0.01344
NM_032122.5(DTNBP1):c.886C>T (p.Pro296Ser) rs74907982 0.01341
NM_022437.3(ABCG8):c.628G>A (p.Val210Met) rs9282574 0.01336
NM_005373.3(MPL):c.117G>T (p.Lys39Asn) rs17292650 0.01329
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595 0.01324
NM_000498.3(CYP11B2):c.606A>G (p.Leu202=) rs113284476 0.01323
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_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01316
NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln) rs17721059 0.01316
NM_002474.3(MYH11):c.4770G>A (p.Lys1590=) rs11648119 0.01310
NM_003978.5(PSTPIP1):c.773G>C (p.Gly258Ala) rs34240327 0.01310
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888 0.01307
NM_000168.6(GLI3):c.3083G>T (p.Ser1028Ile) rs79049330 0.01304
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968 0.01304
NM_001289808.2(CRYAB):c.165G>A (p.Leu55=) rs2228387 0.01303
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr) rs78183930 0.01302
NM_032578.4(MYPN):c.2925+9G>C rs12241644 0.01302
NM_000051.4(ATM):c.6095+15T>C rs3212321 0.01300
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_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01296
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646 0.01295
NM_001232.4(CASQ2):c.226G>A (p.Val76Met) rs10801999 0.01289
NM_000393.5(COL5A2):c.98-12T>G rs117917418 0.01288
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_015272.5(RPGRIP1L):c.2959-15T>C rs11863101 0.01282
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val) rs3759873 0.01282
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377 0.01277
NM_004621.6(TRPC6):c.-10C>A rs191383391 0.01276
NM_000053.4(ATP7B):c.1707+9T>C rs114449708 0.01274
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys) rs72646869 0.01270
NM_001159699.2(FHL1):c.737-13T>C rs11798700 0.01269
NM_033118.4(MYLK2):c.430C>G (p.Pro144Ala) rs34396614 0.01268
NM_001035.3(RYR2):c.6928+4G>A rs79862521 0.01267
NM_000204.5(CFI):c.482+14T>A rs76014294 0.01266
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser) rs111527738 0.01265
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01258
NM_006415.4(SPTLC1):c.781-6A>G rs138268337 0.01253
NM_025074.7(FRAS1):c.8417C>T (p.Thr2806Met) rs114190041 0.01251
NM_000426.4(LAMA2):c.1798G>A (p.Gly600Arg) rs36044314 0.01250
NM_004407.4(DMP1):c.1388A>G (p.Lys463Arg) rs34661425 0.01248
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_014967.5(FAN1):c.2680C>T (p.Pro894Ser) rs80120912 0.01243
NM_000552.5(VWF):c.5843-8C>G rs34444862 0.01242
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu) rs113247976 0.01241
NM_000214.3(JAG1):c.436G>A (p.Val146Ile) rs6040067 0.01238
NM_000546.6(TP53):c.639A>G (p.Arg213=) rs1800372 0.01238
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01231
NM_000092.5(COL4A4):c.559-21A>G rs56306477 0.01229
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr) rs113155945 0.01225
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816 0.01223
NM_206926.2(SELENON):c.307A>G (p.Thr103Ala) rs35019869 0.01217
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=) rs41276894 0.01215
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831 0.01209
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_005529.7(HSPG2):c.5998-7A>G rs148336692 0.01202
NM_004977.3(KCNC3):c.1641G>A (p.Ser547=) rs2301357 0.01200
NM_000092.5(COL4A4):c.3818-45T>A rs55886181 0.01195
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387 0.01193
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=) rs16012 0.01192
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=) rs55977045 0.01192
NM_001267550.2(TTN):c.36625G>T (p.Val12209Leu) rs72650053 0.01188
NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His) rs145911138 0.01187
NM_198525.3(KIF7):c.2481C>T (p.Asn827=) rs35837280 0.01186
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949 0.01184
NM_000092.5(COL4A4):c.2717-5A>T rs1800519 0.01182
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu) rs79708848 0.01180
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val) rs72647877 0.01178
NM_000264.5(PTCH1):c.2199A>G (p.Ser733=) rs2227970 0.01174
NM_002506.3(NGF):c.239G>A (p.Arg80Gln) rs11466111 0.01173
NM_001368894.2(PAX6):c.369G>A (p.Glu123=) rs114384476 0.01168
NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn) rs151315725 0.01166
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134 0.01166
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476 0.01161
NM_138694.4(PKHD1):c.11878G>A (p.Val3960Ile) rs34548196 0.01161
NM_000257.4(MYH7):c.3972+15C>T rs3729820 0.01159
NM_001943.5(DSG2):c.217-5G>T rs80073511 0.01156
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro) rs62621206 0.01151
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795 0.01151
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_025074.7(FRAS1):c.9955C>G (p.Gln3319Glu) rs78619145 0.01150
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232 0.01146
NM_001379286.1(ZNF423):c.3361G>A (p.Ala1121Thr) rs147898137 0.01146
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=) rs114145817 0.01143
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_001130823.3(DNMT1):c.206G>A (p.Arg69His) rs61750053 0.01134
NM_003722.5(TP63):c.1652+14A>C rs150685395 0.01134
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_005591.4(MRE11):c.1994+10G>A rs1805366 0.01130
NM_004082.5(DCTN1):c.34-11G>T rs73948789 0.01129
NM_182961.4(SYNE1):c.22516A>G (p.Ser7506Gly) rs35763277 0.01123
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920 0.01120
NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu) rs113445782 0.01120
NM_000051.4(ATM):c.6572+12G>T rs3218677 0.01112
NM_000053.4(ATP7B):c.3366A>G (p.Ala1122=) rs59120265 0.01110
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167 0.01110
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01106
NM_001164508.2(NEB):c.6717T>G (p.Ile2239Met) rs78733601 0.01102
NM_176787.5(PIGN):c.167C>T (p.Ala56Val) rs61755362 0.01101
NM_032119.4(ADGRV1):c.7945+6C>T rs139278305 0.01100
NM_000271.5(NPC1):c.3246-20G>A rs6507717 0.01098
NM_001365951.3(KIF1B):c.4798G>A (p.Val1600Met) rs77172218 0.01096
NM_201596.3(CACNB2):c.1518C>T (p.Arg506=) rs34813638 0.01090
NM_001366385.1(CARD14):c.2044C>T (p.Arg682Trp) rs117918077 0.01085
NM_004369.4(COL6A3):c.4727G>A (p.Arg1576Gln) rs61729839 0.01085
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073 0.01080
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856 0.01079
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr) rs36049418 0.01075
NM_020632.3(ATP6V0A4):c.417+14G>C rs141824671 0.01075
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile) rs55842557 0.01073
NM_001164508.2(NEB):c.5567G>A (p.Arg1856Gln) rs141930814 0.01071
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) rs34629171 0.01070
NM_001105206.3(LAMA4):c.4065C>T (p.Phe1355=) rs34753919 0.01070
NM_001276345.2(TNNT2):c.294+7G>A rs45490292 0.01066
NM_000152.5(GAA):c.1075+13C>T rs41292402 0.01065
NM_000091.5(COL4A3):c.2501A>G (p.Lys834Arg) rs56226424 0.01064
NM_002335.4(LRP5):c.3918G>A (p.Ala1306=) rs11574425 0.01064
NM_000064.4(C3):c.783C>T (p.Tyr261=) rs2230200 0.01063
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_013266.4(CTNNA3):c.1603C>T (p.Arg535Cys) rs41274090 0.01060
NM_206926.2(SELENON):c.481G>A (p.Ala161Thr) rs115852080 0.01060
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu) rs61733587 0.01055
NM_004366.6(CLCN2):c.2271+8T>G rs114350071 0.01055
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_000501.4(ELN):c.427+8C>T rs55868272 0.01049
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser) rs67254537 0.01037
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val) rs66961115 0.01037
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_182914.3(SYNE2):c.19639A>G (p.Ile6547Val) rs45453691 0.01034
NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser) rs35156360 0.01032
NM_005477.3(HCN4):c.1683C>A (p.Gly561=) rs62641690 0.01030
NM_001035.3(RYR2):c.2397-6C>T rs78165942 0.01029
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala) rs16019 0.01021
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01021
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01021
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379 0.01020
NM_001035.3(RYR2):c.11880+13_11880+16del rs199562036 0.01019
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01016
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met) rs117761837 0.01011
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile) rs1800269 0.01009
NM_015102.5(NPHP4):c.1852G>A (p.Glu618Lys) rs571655 0.01009
NM_001848.3(COL6A1):c.2441A>G (p.Lys814Arg) rs11553518 0.01008
NM_177438.3(DICER1):c.4206+9del rs368080354 0.01007
NM_198428.3(BBS9):c.2299-20A>C rs17727583 0.01007
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902 0.01004
NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val) rs1127291 0.01003
NM_001079802.2(FKTN):c.42G>A (p.Thr14=) rs78794935 0.01002
NM_024753.5(TTC21B):c.2742C>T (p.Cys914=) rs73018799 0.01002
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_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser) rs77555300 0.01000
NM_182914.3(SYNE2):c.16639G>A (p.Asp5547Asn) rs17179194 0.00998
NM_006262.4(PRPH):c.26G>A (p.Arg9Gln) rs57451017 0.00997
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) rs78039319 0.00994
NM_001360.3(DHCR7):c.99-4G>A rs140748737 0.00988
NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly) rs117412802 0.00988
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile) rs72646850 0.00987
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966 0.00985
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141 0.00982
NM_000548.5(TSC2):c.2546-31G>A rs145738496 0.00979
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00977
NM_000059.4(BRCA2):c.8487+19A>G rs11571743 0.00975
NM_006059.4(LAMC3):c.454C>T (p.Arg152Cys) rs45628035 0.00975
NM_001040142.2(SCN2A):c.1785T>C (p.Asp595=) rs141815642 0.00973
NM_002661.5(PLCG2):c.82A>T (p.Met28Leu) rs61749044 0.00973
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln) rs34819099 0.00971
NM_001605.3(AARS1):c.2900A>T (p.Lys967Met) rs35744709 0.00971
NM_001365999.1(SZT2):c.2578G>A (p.Glu860Lys) rs143992266 0.00969
NM_007325.5(GRIA3):c.1501-8T>A rs139058646 0.00969
NM_018100.4(EFHC1):c.881G>A (p.Arg294His) rs1570624 0.00969
NM_002633.3(PGM1):c.247-5664G>A rs77043134 0.00968
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys) rs12471771 0.00967
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr) rs150682895 0.00967
NM_152564.5(VPS13B):c.11044+13G>A rs116819080 0.00967
NM_025074.7(FRAS1):c.518G>A (p.Arg173Gln) rs147332320 0.00966
NM_002474.3(MYH11):c.387A>G (p.Lys129=) rs78754138 0.00965
NM_007078.3(LDB3):c.1231+24G>A rs45477098 0.00965
NM_000528.4(MAN2B1):c.2562C>G (p.Ala854=) rs10410289 0.00964
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747 0.00964
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln) rs79251326 0.00962
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln) rs112545413 0.00960
NM_152246.3(CPT1B):c.1876-15A>G rs41309651 0.00959
NM_032119.4(ADGRV1):c.1839+7G>A rs142011700 0.00957
NM_006846.4(SPINK5):c.1764T>G (p.Ile588Met) rs35877540 0.00956
NM_000250.2(MPO):c.752T>C (p.Met251Thr) rs56378716 0.00954
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970 0.00952
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
NM_001144997.2(ITGA7):c.38C>T (p.Thr13Ile) rs11171663 0.00943
NM_014946.4(SPAST):c.879G>A (p.Pro293=) rs145264166 0.00943
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00940
NM_004415.4(DSP):c.6390T>C (p.Ala2130=) rs28763969 0.00940
NM_138477.4(CDAN1):c.3194G>A (p.Arg1065Gln) rs61746356 0.00932
NM_170707.4(LMNA):c.1158-44C>T rs141879453 0.00929
NM_016599.5(MYOZ2):c.237A>G (p.Ala79=) rs17851524 0.00928
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850 0.00928
NM_021098.3(CACNA1H):c.1120-8C>T rs59091981 0.00928
NM_000203.5(IDUA):c.299+6C>T rs147498923 0.00927
NM_019892.6(INPP5E):c.1387+19C>T rs114698406 0.00926
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_032444.4(SLX4):c.1153C>A (p.Pro385Thr) rs115694169 0.00924
NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg) rs111449472 0.00921
NM_001037.5(SCN1B):c.591-14C>A rs28365109 0.00920
NM_001130987.2(DYSF):c.3757-12C>T rs114968209 0.00920
NM_001943.5(DSG2):c.1543G>A (p.Val515Ile) rs2230235 0.00917
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) rs62178963 0.00915
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00915
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00910
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_025074.7(FRAS1):c.4940C>T (p.Thr1647Ile) rs34271211 0.00909
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260 0.00908
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322 0.00906
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468 0.00905
NM_182961.4(SYNE1):c.23743G>A (p.Asp7915Asn) rs76699382 0.00904
NM_004100.5(EYA4):c.1845C>T (p.Asn615=) rs142721902 0.00903
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313 0.00902
NM_007254.4(PNKP):c.1127-8C>T rs3739203 0.00901
NM_213599.3(ANO5):c.604G>A (p.Glu202Lys) rs115750596 0.00900
NM_015192.4(PLCB1):c.2413+9C>T rs138442805 0.00899
NM_024408.4(NOTCH2):c.272G>T (p.Arg91Leu) rs143195893 0.00899
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00895
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) rs72648960 0.00893
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214 0.00892
NM_001164508.2(NEB):c.10347+6C>T rs141088433 0.00890
NM_017813.5(BPNT2):c.856A>G (p.Lys286Glu) rs112433249 0.00890
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_001127198.5(TMC6):c.610C>T (p.Arg204Trp) rs139654750 0.00880
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541 0.00877
NM_000540.3(RYR1):c.10259+7G>A rs143752962 0.00875
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_018979.4(WNK1):c.5468C>T (p.Pro1823Leu) rs17755373 0.00870
NM_000552.5(VWF):c.5313G>T (p.Gly1771=) rs2229448 0.00869
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082 0.00860
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_006757.4(TNNT3):c.367-9T>C rs76471485 0.00859
NM_006846.4(SPINK5):c.2905A>G (p.Lys969Glu) rs3188691 0.00856
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=) rs140237315 0.00855
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_001009944.3(PKD1):c.8037A>G (p.Val2679=) rs139752541 0.00850
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=) rs73025979 0.00850
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp) rs5030672 0.00847
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val) rs75937132 0.00847
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00847
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00844
NM_001458.5(FLNC):c.2390-14C>T rs71581921 0.00843
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991 0.00843
NM_001365276.2(TNXB):c.4484C>T (p.Thr1495Ile) rs6910390 0.00842
NM_012188.5(FOXI1):c.1014G>A (p.Ala338=) rs55685928 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_015158.5(KANK1):c.206C>T (p.Pro69Leu) rs61737969 0.00839
NM_001025603.2(RFX5):c.590G>A (p.Arg197Gln) rs2233851 0.00835
NM_004525.3(LRP2):c.11996T>G (p.Val3999Gly) rs79723119 0.00834
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala) rs34799090 0.00834
NM_001164508.2(NEB):c.16669A>G (p.Ile5557Val) rs113439353 0.00833
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913 0.00832
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00831
NM_000186.4(CFH):c.2634C>T (p.His878=) rs35292876 0.00829
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750 0.00828
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr) rs191886831 0.00826
NM_015346.4(ZFYVE26):c.2826G>A (p.Met942Ile) rs117367857 0.00826
NM_001142864.4(PIEZO1):c.5195C>T (p.Thr1732Met) rs139051768 0.00825
NM_006904.7(PRKDC):c.9601C>T (p.Pro3201Ser) rs8178216 0.00825
NM_015459.5(ATL3):c.1434A>G (p.Gly478=) rs189119869 0.00825
NM_020549.5(CHAT):c.1682G>A (p.Arg561Gln) rs80097077 0.00825
NM_000051.4(ATM):c.8419-19A>G rs12279930 0.00824
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr) rs36210417 0.00822
NM_001386795.1(DTNA):c.2162+14G>A rs76713874 0.00820
NM_176787.5(PIGN):c.2712T>G (p.Phe904Leu) rs34231046 0.00820
NM_024408.4(NOTCH2):c.3117G>A (p.Thr1039=) rs36084504 0.00817
NM_207361.6(FREM2):c.4901C>T (p.Thr1634Met) rs74781600 0.00816
NM_006772.3(SYNGAP1):c.84T>C (p.Ser28=) rs142359891 0.00815
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys) rs35062203 0.00814
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_001148.6(ANK2):c.3379+12T>G rs139528815 0.00812
NM_201596.3(CACNB2):c.1785C>T (p.His595=) rs61733967 0.00812
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992 0.00811
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301 0.00809
NM_001079802.2(FKTN):c.166-6A>G rs41277795 0.00808
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596 0.00808
NM_001079802.2(FKTN):c.910+14G>A rs76180538 0.00806
NM_001061.7(TBXAS1):c.1246C>G (p.Gln416Glu) rs4528 0.00805
NM_012186.3(FOXE3):c.16G>A (p.Asp6Asn) rs765169217 0.00805
NM_144687.4(NLRP12):c.956C>G (p.Pro319Arg) rs35401786 0.00803
NM_002661.5(PLCG2):c.1712A>G (p.Asn571Ser) rs75472618 0.00802
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172 0.00801
NM_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868 0.00799
NM_144687.4(NLRP12):c.424G>A (p.Asp142Asn) rs34330210 0.00799
NM_005245.4(FAT1):c.7700G>A (p.Arg2567His) rs116784674 0.00795
NM_014339.7(IL17RA):c.1819G>A (p.Glu607Lys) rs28376631 0.00795
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_001164508.2(NEB):c.24208-7C>T rs113048349 0.00793
NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys) rs148912436 0.00793
NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser) rs149363094 0.00792
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879 0.00790
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00790
NM_000257.4(MYH7):c.4520-25C>T rs45503601 0.00789
NM_001035.3(RYR2):c.11835C>T (p.Val3945=) rs78939657 0.00787
NM_001458.5(FLNC):c.6771A>G (p.Pro2257=) rs34422412 0.00786
NM_005529.7(HSPG2):c.8929C>T (p.Arg2977Trp) rs114851469 0.00786
NM_000593.6(TAP1):c.730G>T (p.Val244Leu) rs36229525 0.00785
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_001018005.2(TPM1):c.639+22G>C rs28730802 0.00782
NM_006846.4(SPINK5):c.2241-6C>T rs190365795 0.00780
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00780
NM_003661.4(APOL1):c.792C>A (p.Asn264Lys) rs73885316 0.00777
NM_000393.5(COL5A2):c.1104+15T>C rs75486409 0.00772
NM_000527.5(LDLR):c.941-4G>A rs116405216 0.00771
NM_182961.4(SYNE1):c.12079-12G>T rs73783853 0.00771
NM_000393.5(COL5A2):c.975C>T (p.Pro325=) rs144344474 0.00770
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_001680.5(FXYD2):c.*6+6C>A rs11827585 0.00767
NM_001291303.3(FAT4):c.8544C>T (p.Ser2848=) rs139132509 0.00764
NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=) rs61753382 0.00763
NM_014000.3(VCL):c.2801C>T (p.Ala934Val) rs16931179 0.00763
NM_023110.3(FGFR1):c.600C>T (p.Asp200=) rs17175898 0.00761
NM_002440.4(MSH4):c.2520G>C (p.Glu840Asp) rs114093703 0.00759
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=) rs61730035 0.00758
NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln) rs183329050 0.00756
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) rs56177950 0.00755
NM_014000.3(VCL):c.2950-22C>G rs71579378 0.00753
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu) rs112812685 0.00750
NM_001005361.3(DNM2):c.235+6A>G rs113192269 0.00748
NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu) rs61745086 0.00748
NM_018979.4(WNK1):c.684C>T (p.Gly228=) rs72647374 0.00748
NM_002474.3(MYH11):c.4158C>T (p.Thr1386=) rs112377790 0.00746
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871 0.00746
NM_003664.5(AP3B1):c.2324T>A (p.Ile775Lys) rs62001050 0.00745
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys) rs72957510 0.00742
NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=) rs111033429 0.00742
NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr) rs59172778 0.00742
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265 0.00741
NM_020297.4(ABCC9):c.3409G>A (p.Val1137Ile) rs147895473 0.00739
NM_000334.4(SCN4A):c.3441+7G>A rs142270113 0.00738
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg) rs148398509 0.00737
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290 0.00735
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00735
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile) rs35707762 0.00734
NM_019066.5(MAGEL2):c.1079C>T (p.Ala360Val) rs111759069 0.00733
NM_032588.4(TRIM63):c.135G>C (p.Arg45=) rs61760891 0.00733
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His) rs111033470 0.00732
NM_177438.3(DICER1):c.2370G>A (p.Arg790=) rs112712209 0.00732
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783 0.00731
NM_000501.4(ELN):c.1622-13C>T rs41362346 0.00729
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr) rs141933811 0.00728
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys) rs146953558 0.00728
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00725
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00722
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg) rs139014478 0.00721
NM_000059.4(BRCA2):c.316+108A>G rs115376548 0.00719
NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr) rs77014998 0.00719
NM_001267550.2(TTN):c.63026G>A (p.Arg21009Gln) rs72646851 0.00718
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855 0.00718
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys) rs141703710 0.00717
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn) rs179363896 0.00715
NM_021098.3(CACNA1H):c.3175G>T (p.Ala1059Ser) rs41292285 0.00715
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00714
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_001127222.2(CACNA1A):c.7431C>T (p.Tyr2477=) rs16059 0.00712
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974 0.00712
NM_001458.5(FLNC):c.6004+11G>A rs117653869 0.00710
NM_001379110.1(SLC9A6):c.1662-4G>A rs188072063 0.00707
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302 0.00705
NM_000195.5(HPS1):c.779G>A (p.Arg260Gln) rs56378825 0.00704
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_000186.4(CFH):c.1159+19T>G rs35695425 0.00703
NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His) rs114095081 0.00702
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser) rs3827522 0.00701
NM_001035.3(RYR2):c.13260+14A>G rs141528541 0.00700
NM_006282.5(STK4):c.1247C>T (p.Pro416Leu) rs33963346 0.00700
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn) rs17354992 0.00698
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924 0.00698
NM_020458.4(TTC7A):c.649-10C>T rs149360779 0.00698
NM_024411.5(PDYN):c.436A>C (p.Met146Leu) rs77155664 0.00698
NM_014476.6(PDLIM3):c.162C>T (p.Gly54=) rs112661328 0.00697
NM_001927.4(DES):c.735+20C>T rs151226355 0.00694
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165 0.00694
NM_170665.4(ATP2A2):c.327A>G (p.Glu109=) rs55984131 0.00693
NM_001174150.2(ARL13B):c.105C>T (p.Thr35=) rs146396078 0.00691
NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser) rs149377346 0.00690
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_016373.4(WWOX):c.754C>G (p.Pro252Ala) rs75559202 0.00684
NM_002661.5(PLCG2):c.1146T>C (p.Phe382=) rs138637229 0.00682
NM_001370466.1(NOD2):c.2042G>A (p.Arg681His) rs35285618 0.00681
NM_001243133.2(NLRP3):c.423C>T (p.Tyr141=) rs56710146 0.00680
NM_000092.5(COL4A4):c.666G>A (p.Pro222=) rs111945121 0.00676
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510 0.00676
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375 0.00674
NM_001148.6(ANK2):c.2377-8C>T rs139893914 0.00672
NM_001164508.2(NEB):c.6069G>A (p.Met2023Ile) rs184262608 0.00672
NM_001377.3(DYNC2H1):c.10864C>A (p.Arg3622=) rs117178504 0.00672
NM_005529.7(HSPG2):c.7296A>T (p.Ala2432=) rs2229485 0.00669
NM_002335.4(LRP5):c.687-8G>A rs190810239 0.00668
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu) rs114472821 0.00668
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met) rs77351975 0.00667
NM_007126.5(VCP):c.1082-9G>T rs12349922 0.00667
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008 0.00665
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505 0.00661
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884 0.00660
NM_001106.4(ACVR2B):c.1075-5C>T rs115155428 0.00657
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) rs2229474 0.00657
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00657
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) rs151091241 0.00657
NM_001267550.2(TTN):c.45083-10A>G rs72677222 0.00656
NM_001558.4(IL10RA):c.337G>A (p.Val113Ile) rs4252303 0.00655
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093 0.00654
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954 0.00654
NM_001943.5(DSG2):c.2647T>C (p.Ser883Pro) rs34417028 0.00652
NM_138295.5(PKD1L1):c.2675+4C>T rs143005953 0.00651
NM_000170.3(GLDC):c.2203G>T (p.Val735Leu) rs143119940 0.00650
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile) rs1800060 0.00649
NM_032444.4(SLX4):c.1803G>A (p.Ser601=) rs144892556 0.00649
NM_004415.4(DSP):c.2673T>C (p.Tyr891=) rs146407262 0.00648
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870 0.00648
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895 0.00647
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937 0.00644
NM_001845.6(COL4A1):c.1121-18G>A rs139885514 0.00644
NM_003742.4(ABCB11):c.3330G>A (p.Ala1110=) rs113099601 0.00643
NM_001081.4(CUBN):c.9491C>G (p.Ser3164Trp) rs57163243 0.00641
NM_002470.4(MYH3):c.3592G>A (p.Ala1198Thr) rs61735358 0.00641
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00640
NM_032444.4(SLX4):c.1755C>T (p.Pro585=) rs114016359 0.00638
NM_001009944.3(PKD1):c.4071G>T (p.Leu1357=) rs145737766 0.00637
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00637
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu) rs35738915 0.00636
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00634
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303 0.00633
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119 0.00631
NM_000081.4(LYST):c.10941-7C>A rs72761794 0.00629
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=) rs11915053 0.00629
NM_001849.4(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828 0.00627
NM_004369.4(COL6A3):c.4285+9G>A rs75780727 0.00626
NM_020529.3(NFKBIA):c.548-3C>T rs2233418 0.00626
NM_152384.3(BBS5):c.620G>A (p.Arg207His) rs35487251 0.00625
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043 0.00622
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser) rs4986940 0.00622
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=) rs138477292 0.00622
NM_000071.3(CBS):c.1145+7C>T rs201158177 0.00620
NM_016233.2(PADI3):c.881C>T (p.Ala294Val) rs144080386 0.00620
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) rs138407503 0.00618
NM_024753.5(TTC21B):c.1870A>G (p.Ile624Val) rs77106136 0.00617
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His) rs1046166 0.00617
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724 0.00616
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=) rs16026 0.00616
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00616
NM_002474.3(MYH11):c.5296-4C>T rs183176702 0.00615
NM_024426.6(WT1):c.785-20G>T rs5030168 0.00615
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509 0.00615
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843 0.00613
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe) rs34618570 0.00613
NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu) rs116890187 0.00613
NM_032119.4(ADGRV1):c.2553+11T>A rs73181640 0.00612
NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala) rs104894963 0.00610
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_001035.3(RYR2):c.14299-12A>G rs41267519 0.00609
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728 0.00609
NM_153240.5(NPHP3):c.1887+6G>A rs79113972 0.00609
NM_000368.5(TSC1):c.2626-3C>T rs1060503192 0.00608
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) rs185002960 0.00608
NM_001943.5(DSG2):c.2708C>T (p.Thr903Ile) rs34065672 0.00608
NM_017882.3(CLN6):c.298-6C>T rs117038427 0.00608
NM_030787.4(CFHR5):c.429T>C (p.Thr143=) rs140215003 0.00608
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00606
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00603
NM_000064.4(C3):c.1976-19C>T rs11569433 0.00602
NM_175914.5(HNF4A):c.393T>C (p.Asn131=) rs113308087 0.00602
NM_002180.3(IGHMBP2):c.256+9G>A rs118015540 0.00600
NM_000051.4(ATM):c.4042T>C (p.Leu1348=) rs56355831 0.00599
NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr) rs36083134 0.00599
NM_000059.4(BRCA2):c.5704G>A rs4987048 0.00598
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195 0.00598
NM_000498.3(CYP11B2):c.743T>C (p.Ile248Thr) rs4547 0.00598
NM_001018020.2(TPM1):c.*31G>A rs11558748 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_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00597
NM_001243133.2(NLRP3):c.1600C>T (p.Leu534=) rs116054301 0.00596
NM_015937.6(PIGT):c.367G>T (p.Val123Leu) rs141420243 0.00595
NM_152468.5(TMC8):c.279G>A (p.Gly93=) rs201749146 0.00595
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350 0.00594
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile) rs148355156 0.00591
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00591
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653 0.00590
NM_003839.4(TNFRSF11A):c.1519G>A (p.Ala507Thr) rs61751992 0.00589
NM_014625.4(NPHS2):c.891G>A (p.Ala297=) rs5005771 0.00589
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00587
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00585
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773 0.00584
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338 0.00584
NM_000466.3(PEX1):c.3720C>T (p.His1240=) rs34825053 0.00582
NM_172351.3(CD46):c.417A>G (p.Leu139=) rs12126088 0.00581
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441 0.00579
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro) rs28730852 0.00579
NM_182961.4(SYNE1):c.4789-13G>A rs142900784 0.00579
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834 0.00578
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028 0.00578
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00577
NM_001710.6(CFB):c.600C>T (p.Ser200=) rs113197809 0.00577
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444 0.00577
NM_001358921.2(COQ2):c.194A>C (p.Asp65Ala) rs375934957 0.00574
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00573
NM_014908.4(DOLK):c.1dup (p.Met1fs) rs531969689 0.00573
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) rs61729366 0.00571
NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu) rs33971253 0.00570
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406 0.00570
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00569
NM_000051.4(ATM):c.186-7C>T rs55674039 0.00568
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815 0.00568
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324 0.00568
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_023110.3(FGFR1):c.345C>T (p.Ser115=) rs2915665 0.00567
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445 0.00566
NM_153252.5(BRWD3):c.2325+5G>A rs186391561 0.00565
NM_019066.5(MAGEL2):c.1038G>C (p.Arg346Ser) rs115892604 0.00564
NM_001909.5(CTSD):c.1072-7G>A rs149019571 0.00560
NM_001009944.3(PKD1):c.11537+3_11537+5dup rs201204878 0.00559
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=) rs138123155 0.00559
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147 0.00558
NM_021098.3(CACNA1H):c.5324-4G>A rs57687113 0.00558
NM_031407.7(HUWE1):c.12573C>G (p.Pro4191=) rs140734968 0.00558
NM_001126108.2(SLC12A3):c.2857-6G>A rs117981500 0.00557
NM_001370466.1(NOD2):c.785A>G (p.Asn262Ser) rs5743271 0.00557
NM_015102.5(NPHP4):c.1442-7C>T rs146078470 0.00557
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00554
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_005535.3(IL12RB1):c.783+10C>T rs79972275 0.00554
NM_002230.4(JUP):c.1774-13C>T rs116772523 0.00553
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00551
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg) rs34132016 0.00549
NM_000257.4(MYH7):c.3853+21C>T rs45584435 0.00548
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573 0.00548
NM_005591.4(MRE11):c.2092A>G (p.Met698Val) rs1805362 0.00548
NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=) rs41316723 0.00547
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys) rs2307450 0.00547
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00547
NM_000062.3(SERPING1):c.751C>T (p.Leu251=) rs35788383 0.00546
NM_176824.3(BBS7):c.1512-7A>T rs115987385 0.00545
NM_000085.5(CLCNKB):c.1297+5G>T rs35351345 0.00544
NM_174936.4(PCSK9):c.720C>T (p.Gly240=) rs41297883 0.00544
NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln) rs113808165 0.00541
NM_001308093.3(GATA4):c.912+25G>A rs147860174 0.00540
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu) rs115913736 0.00540
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237 0.00536
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001 0.00534
NM_004369.4(COL6A3):c.1471G>C (p.Asp491His) rs112010940 0.00534
NM_019594.4(LRRC8A):c.1995G>A (p.Glu665=) rs11999752 0.00533
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys) rs149814240 0.00533
NM_001113491.2(SEPTIN9):c.1573+9C>T rs148975193 0.00531
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_024408.4(NOTCH2):c.456C>T (p.Pro152=) rs143287927 0.00531
NM_001143992.2(WRAP53):c.936C>T (p.Cys312=) rs73248508 0.00530
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_000043.6(FAS):c.369G>A (p.Gln123=) rs28362318 0.00529
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00529
NM_014625.4(NPHS2):c.182C>T (p.Ala61Val) rs201050491 0.00529
NM_000439.5(PCSK1):c.397-10T>C rs142423997 0.00527
NM_203290.4(POLR1C):c.634A>G (p.Met212Val) rs79222964 0.00527
NM_001384732.1(CPLANE1):c.5329G>A (p.Val1777Ile) rs142777778 0.00526
NM_015662.3(IFT172):c.4272G>A (p.Gln1424=) rs147850047 0.00526
NM_021098.3(CACNA1H):c.5493C>T (p.Tyr1831=) rs60218977 0.00526
NM_032578.4(MYPN):c.1134C>T (p.Ile378=) rs145701607 0.00526
NM_001365951.3(KIF1B):c.2115+6956A>G rs148481786 0.00525
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys) rs181067717 0.00525
NM_024589.3(ROGDI):c.713G>A (p.Arg238His) rs138409264 0.00525
NM_000834.5(GRIN2B):c.3498C>T (p.Ser1166=) rs45600931 0.00523
NM_000137.4(FAH):c.315-14G>A rs139830755 0.00521
NM_000138.5(FBN1):c.2855-9C>T rs140590 0.00521
NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile) rs35012521 0.00520
NM_019066.5(MAGEL2):c.2633C>T (p.Pro878Leu) rs2233067 0.00519
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465 0.00518
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_022489.4(INF2):c.3108T>C (p.Leu1036=) rs186075307 0.00518
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572 0.00516
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=) rs45559331 0.00516
NM_019594.4(LRRC8A):c.1371C>T (p.Pro457=) rs11999256 0.00516
NM_000722.4(CACNA2D1):c.659-17T>C rs201932919 0.00513
NM_001148.6(ANK2):c.2278-11G>A rs146312675 0.00513
NM_002661.5(PLCG2):c.2094C>T (p.Asp698=) rs143195637 0.00513
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_020207.7(ERCC6L2):c.3076G>C (p.Val1026Leu) rs149922601 0.00512
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123 0.00511
NM_015662.3(IFT172):c.3401G>T (p.Arg1134Leu) rs148624326 0.00509
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=) rs35450031 0.00509
NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr) rs148164067 0.00508
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00508
NM_170784.3(MKKS):c.16G>A (p.Ala6Thr) rs150920905 0.00508
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser) rs74315394 0.00508
NM_001009944.3(PKD1):c.8439C>T (p.Ser2813=) rs117856830 0.00507
NM_000092.5(COL4A4):c.2907A>C (p.Ser969=) rs116354015 0.00506
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met) rs2229817 0.00506
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_001366385.1(CARD14):c.2496C>T (p.Leu832=) rs139789664 0.00506
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795 0.00506
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_018941.4(CLN8):c.-123-4T>C rs114189810 0.00505
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00504
NM_000522.5(HOXA13):c.480G>A (p.Ala160=) rs537218194 0.00504
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446 0.00504
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890 0.00503
NM_004369.4(COL6A3):c.1475C>G (p.Thr492Ser) rs113897824 0.00503
NM_000335.5(SCN5A):c.3508+10C>T rs41258454 0.00502
NM_006267.5(RANBP2):c.7849+4A>G rs2949961 0.00502
NM_003978.5(PSTPIP1):c.1098G>A (p.Ala366=) rs35538044 0.00501
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00501
NM_015158.5(KANK1):c.3553+5G>A rs114914725 0.00501
NM_020376.4(PNPLA2):c.919+4C>T rs148314086 0.00500
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) rs56056823 0.00499
NM_006267.5(RANBP2):c.2339C>T (p.Pro780Leu) rs61758802 0.00497
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_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666 0.00495
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val) rs72782753 0.00493
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_002661.5(PLCG2):c.1565C>G (p.Pro522Arg) rs72824905 0.00491
NM_003839.4(TNFRSF11A):c.327C>T (p.Pro109=) rs35003467 0.00491
NM_005629.4(SLC6A8):c.1496-5C>T rs200695210 0.00491
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629 0.00491
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00490
NM_002471.4(MYH6):c.330G>A (p.Ala110=) rs77679218 0.00490
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile) rs61752970 0.00489
NM_015662.3(IFT172):c.1685C>G (p.Thr562Ser) rs61743977 0.00489
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_000543.5(SMPD1):c.813T>C (p.Pro271=) rs61876771 0.00488
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_003900.5(SQSTM1):c.183C>T (p.Gly61=) rs767340839 0.00487
NM_004006.3(DMD):c.10789C>T (p.Leu3597=) rs1800281 0.00486
NM_006267.5(RANBP2):c.2982A>T (p.Ala994=) rs61748148 0.00486
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_024334.3(TMEM43):c.162+21C>T rs137975239 0.00485
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=) rs141338915 0.00484
NM_032119.4(ADGRV1):c.3289G>A (p.Gly1097Ser) rs148097083 0.00484
NM_000254.3(MTR):c.3599-18C>T rs116444161 0.00483
NM_001371596.2(MFSD8):c.199-8T>C rs112721309 0.00481
NM_003647.3(DGKE):c.35C>T (p.Pro12Leu) rs146866423 0.00481
NM_015909.4(NBAS):c.711T>C (p.His237=) rs75347158 0.00480
NM_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=) rs143312971 0.00478
NM_024408.4(NOTCH2):c.3980A>G (p.Asp1327Gly) rs61752484 0.00477
NM_017777.4(MKS1):c.1436G>A (p.Arg479His) rs111315726 0.00476
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00475
NM_006267.5(RANBP2):c.7754T>C (p.Ile2585Thr) rs145886643 0.00475
NM_005263.5(GFI1):c.1198C>T (p.Leu400Phe) rs143708376 0.00473
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995 0.00472
NM_001258392.3(CLPB):c.2026A>G (p.Thr676Ala) rs112524097 0.00471
NM_003923.3(FOXH1):c.338G>C (p.Ser113Thr) rs144830740 0.00471
NM_000257.4(MYH7):c.1579-17C>T rs182949516 0.00470
NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=) rs41289636 0.00470
NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala) rs75831573 0.00470
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=) rs145806603 0.00468
NM_000188.3(HK1):c.2007G>A (p.Glu669=) rs117797901 0.00468
NM_001909.5(CTSD):c.353-12C>T rs141523461 0.00468
NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu) rs16991652 0.00468
NM_001312909.2(FAM111A):c.782_791dup (p.Phe264fs) rs533676902 0.00467
NM_001376013.1(EPB41):c.871C>T (p.Pro291Ser) rs142874233 0.00467
NM_001378454.1(ALMS1):c.2764C>T (p.Leu922=) rs143885319 0.00467
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013 0.00466
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu) rs145191932 0.00466
NM_003476.5(CSRP3):c.213C>T (p.Ile71=) rs45476991 0.00466
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846 0.00466
NM_182746.3(MCM4):c.2064G>A (p.Lys688=) rs143488457 0.00466
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956 0.00465
NM_024426.6(WT1):c.1114-9T>C rs5030274 0.00465
NM_002204.4(ITGA3):c.929C>T (p.Ala310Val) rs61730088 0.00464
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp) rs113964173 0.00462
NM_004082.5(DCTN1):c.586A>G (p.Ile196Val) rs55862001 0.00462
NM_032119.4(ADGRV1):c.3482C>G (p.Ser1161Cys) rs147062294 0.00462
NM_182914.3(SYNE2):c.7162G>A (p.Glu2388Lys) rs200842904 0.00462
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_004977.3(KCNC3):c.984G>A (p.Pro328=) rs114192110 0.00461
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val) rs140374206 0.00461
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu) rs34563188 0.00460
NM_000243.3(MEFV):c.1760-4G>A rs79662406 0.00459
NM_000098.3(CPT2):c.1578T>C (p.Gly526=) rs113493395 0.00455
NM_001025603.2(RFX5):c.1495C>T (p.Pro499Ser) rs2233855 0.00454
NM_004863.4(SPTLC2):c.1664C>T (p.Thr555Met) rs138652708 0.00454
NM_130839.5(UBE3A):c.2124+9T>C rs79328837 0.00454
NM_018718.3(CEP41):c.208-5A>G rs11765434 0.00453
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro) rs13171868 0.00453
NM_002691.4(POLD1):c.1275C>T (p.Ala425=) rs3219392 0.00452
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_006197.4(PCM1):c.2715C>T (p.Asp905=) rs34504407 0.00451
NM_181882.3(PRX):c.1216G>A (p.Ala406Thr) rs117336941 0.00451
NM_004369.4(COL6A3):c.7928C>T (p.Ala2643Val) rs111595697 0.00450
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg) rs141088838 0.00450
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684 0.00449
NM_014845.6(FIG4):c.66+10C>T rs200063827 0.00449
NM_025137.4(SPG11):c.4923G>C (p.Lys1641Asn) rs150218102 0.00449
NM_000090.4(COL3A1):c.2022+5T>C rs41263765 0.00448
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_001083116.3(PRF1):c.96G>A (p.Lys32=) rs2228018 0.00448
NM_020297.4(ABCC9):c.285-16G>A rs144825585 0.00448
NM_001166108.2(PALLD):c.2442A>G (p.Thr814=) rs113676921 0.00447
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=) rs34211419 0.00447
NM_015631.6(TCTN3):c.224C>T (p.Ala75Val) rs41291570 0.00447
NM_002471.4(MYH6):c.2168+17C>A rs192337153 0.00443
NM_015102.5(NPHP4):c.1705C>G (p.Gln569Glu) rs113413307 0.00443
NM_001122681.2(SH3BP2):c.464C>T (p.Ala155Val) rs35313240 0.00442
NM_014000.3(VCL):c.1317T>C (p.Ser439=) rs71579355 0.00442
NM_000081.4(LYST):c.10800+4G>T rs41308172 0.00441
NM_000088.4(COL1A1):c.612C>T (p.Pro204=) rs138078016 0.00441
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676 0.00441
NM_001723.7(DST):c.5780A>G (p.His1927Arg) rs12209266 0.00441
NM_032588.4(TRIM63):c.*2G>A rs77965623 0.00441
NM_001386795.1(DTNA):c.210G>A (p.Leu70=) rs117571555 0.00440
NM_032119.4(ADGRV1):c.5525-7C>T rs137853919 0.00440
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_001365951.3(KIF1B):c.4158G>A (p.Ser1386=) rs116302604 0.00439
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_002234.4(KCNA5):c.929C>T (p.Pro310Leu) rs17215402 0.00438
NM_002470.4(MYH3):c.690C>G (p.Ala230=) rs147148934 0.00438
NM_006000.3(TUBA4A):c.909A>G (p.Val303=) rs141922502 0.00438
NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser) rs138628273 0.00437
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_001134363.3(RBM20):c.2655+15A>G rs187915202 0.00436
NM_002473.6(MYH9):c.1083C>T (p.Asp361=) rs56001030 0.00436
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val) rs35176378 0.00436
NM_005629.4(SLC6A8):c.1768-3C>T rs150207268 0.00435
NM_000213.5(ITGB4):c.2730C>T (p.Ala910=) rs61735292 0.00433
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00433
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_002485.5(NBN):c.1882G>A (p.Glu628Lys) rs115321485 0.00431
NM_007294.4(BRCA1):c.5468-10C>A rs8176316 0.00431
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=) rs182847302 0.00430
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921 0.00430
NM_001103.4(ACTN2):c.536+10C>T rs141219516 0.00429
NM_001174147.2(LMX1B):c.886+28G>A rs150656317 0.00429
NM_001737.5(C9):c.387A>C (p.Ser129=) rs147450097 0.00427
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886 0.00427
NM_004371.4(COPA):c.2263+7A>G rs116596416 0.00427
NM_024915.4(GRHL2):c.1500G>A (p.Thr500=) rs34550163 0.00427
NM_201384.3(PLEC):c.4366G>A (p.Val1456Met) rs186848953 0.00427
NM_000186.4(CFH):c.2850G>T (p.Gln950His) rs149474608 0.00425
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln) rs28363283 0.00423
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904 0.00423
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524 0.00422
NM_000395.3(CSF2RB):c.1119G>A (p.Glu373=) rs144452731 0.00421
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser) rs75639119 0.00421
NM_001372051.1(CASP8):c.306-1918T>C rs11897628 0.00421
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_015909.4(NBAS):c.3282T>C (p.His1094=) rs139891797 0.00418
NM_002471.4(MYH6):c.622G>A (p.Asp208Asn) rs142027794 0.00417
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg) rs143784823 0.00417
NM_001569.4(IRAK1):c.1874C>T (p.Thr625Met) rs35638718 0.00416
NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=) rs75413741 0.00415
NM_000051.4(ATM):c.5005+18G>A rs76290788 0.00414
NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser) rs55816283 0.00413
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_005634.3(SOX3):c.157G>C (p.Val53Leu) rs200361128 0.00412
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) rs61753725 0.00412
NM_000383.4(AIRE):c.548C>A (p.Thr183Asn) rs34219046 0.00411
NM_000431.4(MVK):c.769-7T>G rs104895331 0.00411
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_001377405.1(ATXN7):c.*14C>A rs180696871 0.00411
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00411
NM_013266.4(CTNNA3):c.99+11C>T rs115451937 0.00411
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895 0.00411
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988 0.00410
NM_004006.3(DMD):c.7542+13A>G rs72466585 0.00410
NM_031885.5(BBS2):c.805-20A>G rs41280892 0.00410
NM_203447.4(DOCK8):c.3701-17C>T rs376111035 0.00409
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268 0.00408
NM_015102.5(NPHP4):c.511G>A (p.Ala171Thr) rs113765431 0.00408
NM_001113491.2(SEPTIN9):c.1574-10C>T rs192537441 0.00407
NM_020631.6(PLEKHG5):c.440-6A>G rs202049535 0.00407
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297 0.00407
NM_001267550.2(TTN):c.59165T>C (p.Val19722Ala) rs116592778 0.00406
NM_001283009.2(RTEL1):c.1548C>T (p.Val516=) rs116057134 0.00406
NM_000170.3(GLDC):c.2113G>A (p.Val705Met) rs147275962 0.00405
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766 0.00405
NM_006258.4(PRKG1):c.426C>T (p.Asp142=) rs55754654 0.00405
NM_024408.4(NOTCH2):c.435G>A (p.Thr145=) rs1615676 0.00405
NM_000540.3(RYR1):c.1923C>G (p.Thr641=) rs116591968 0.00404
NM_004840.3(ARHGEF6):c.362G>A (p.Arg121His) rs35106300 0.00404
NM_053025.4(MYLK):c.1516A>G (p.Arg506Gly) rs77323602 0.00404
NM_001458.5(FLNC):c.7780+10A>G rs201149834 0.00403
NM_001710.6(CFB):c.1408+7A>C rs4151656 0.00403
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met) rs138108344 0.00403
NM_004924.6(ACTN4):c.2401G>A (p.Val801Met) rs141727248 0.00403
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly) rs58093963 0.00401
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser) rs75145370 0.00401
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00400
NM_000310.4(PPT1):c.363-4G>A rs117284255 0.00400
NM_001142864.4(PIEZO1):c.2423G>A (p.Arg808Gln) rs202103485 0.00400
NM_000432.4(MYL2):c.170-19T>C rs115522476 0.00399
NM_002471.4(MYH6):c.4651-12A>C rs193922653 0.00399
NM_003193.5(TBCE):c.101-5G>A rs113829976 0.00399
NM_003705.5(SLC25A12):c.1458G>A (p.Ala486=) rs142179562 0.00399
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249 0.00399
NM_014967.5(FAN1):c.1944-4T>C rs200971774 0.00399
NM_014704.4(CEP104):c.1884G>T (p.Thr628=) rs12144567 0.00398
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006 0.00398
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867 0.00398
NM_018344.6(SLC29A3):c.618C>T (p.Ala206=) rs141413620 0.00398
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His) rs35851478 0.00397
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00396
NM_173689.7(CRB2):c.1428T>G (p.Thr476=) rs142345530 0.00396
NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser) rs200970763 0.00395
NM_014270.5(SLC7A9):c.1444C>T (p.Pro482Ser) rs140516386 0.00395
NM_018979.4(WNK1):c.3654A>G (p.Ser1218=) rs141971833 0.00395
NM_001127198.5(TMC6):c.1276G>A (p.Gly426Arg) rs61744921 0.00394
NM_032119.4(ADGRV1):c.10796G>C (p.Gly3599Ala) rs145294917 0.00394
NM_001458.5(FLNC):c.1549+15C>A rs181134489 0.00393
NM_025074.7(FRAS1):c.8215G>A (p.Ala2739Thr) rs192476468 0.00393
NM_005689.4(ABCB6):c.1762G>A (p.Gly588Ser) rs145526996 0.00392
NM_001378452.1(ITPR1):c.1480G>A (p.Val494Ile) rs41289628 0.00391
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00391
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00391
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys) rs45608240 0.00391
NM_020549.5(CHAT):c.1372C>T (p.Leu458Phe) rs76014951 0.00391
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp) rs201586455 0.00391
NM_001099922.3(ALG13):c.2672C>T (p.Ser891Phe) rs200066623 0.00390
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_016156.6(MTMR2):c.570+11T>C rs182582445 0.00390
NM_024577.4(SH3TC2):c.1403C>T (p.Ala468Val) rs6874630 0.00390
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200 0.00389
NM_031885.5(BBS2):c.1110T>C (p.Ala370=) rs148990271 0.00389
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=) rs141101590 0.00388
NM_001385875.1(ZFYVE27):c.62C>T (p.Ala21Val) rs140812293 0.00388
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129 0.00388
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00386
NM_001081.4(CUBN):c.3292G>T (p.Ala1098Ser) rs146593010 0.00386
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) rs201531206 0.00386
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074 0.00385
NM_005428.4(VAV1):c.1047G>A (p.Glu349=) rs61750001 0.00385
NM_032578.4(MYPN):c.3078G>A (p.Gly1026=) rs114479328 0.00385
NM_000285.4(PEPD):c.624+16G>A rs142369843 0.00383
NM_000642.3(AGL):c.3384G>A (p.Ala1128=) rs149393587 0.00383
NM_002474.3(MYH11):c.2520+17A>G rs185697714 0.00383
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555 0.00382
NM_001081.4(CUBN):c.1003G>A (p.Ala335Thr) rs57335729 0.00382
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr) rs77357563 0.00382
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601 0.00381
NM_018389.5(SLC35C1):c.1054C>T (p.Pro352Ser) rs145613857 0.00381
NM_019055.6(ROBO4):c.546C>T (p.Pro182=) rs143174483 0.00381
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00380
NM_001163809.2(WDR81):c.4843G>A (p.Gly1615Arg) rs143688446 0.00380
NM_014231.5(VAMP1):c.*1630C>T rs71584837 0.00380
NM_022041.4(GAN):c.1684C>G (p.Pro562Ala) rs79901179 0.00380
NM_001148.6(ANK2):c.4744C>T (p.Arg1582Trp) rs35249198 0.00379
NM_182961.4(SYNE1):c.6135T>G (p.Ile2045Met) rs116600265 0.00379
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
NM_004409.5(DMPK):c.882+8C>T rs141629958 0.00378
NM_005340.7(HINT1):c.117T>C (p.Leu39=) rs78949626 0.00378
NM_015909.4(NBAS):c.4847A>G (p.His1616Arg) rs35295359 0.00378
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His) rs41304892 0.00378
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_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239 0.00376
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_001195553.2(DCX):c.588T>C (p.Arg196=) rs138706968 0.00376
NM_017999.5(RNF31):c.415G>A (p.Glu139Lys) rs45466595 0.00376
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr) rs141245482 0.00376
NM_000642.3(AGL):c.2883A>G (p.Arg961=) rs113625417 0.00375
NM_001035.3(RYR2):c.7038A>C (p.Ala2346=) rs116601686 0.00375
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val) rs7587103 0.00375
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067 0.00375
NM_000722.4(CACNA2D1):c.3134A>C (p.Asp1045Ala) rs35131433 0.00374
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=) rs146164139 0.00374
NM_138295.5(PKD1L1):c.908G>A (p.Arg303Gln) rs145088541 0.00374
NM_000301.5(PLG):c.1281G>A (p.Arg427=) rs149909079 0.00373
NM_002163.4(IRF8):c.813C>T (p.Phe271=) rs147080359 0.00373
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp) rs201472270 0.00373
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) rs146458524 0.00372
NM_000566.4(FCGR1A):c.1013T>C (p.Ile338Thr) rs1050208 0.00372
NM_000271.5(NPC1):c.1947+14_1947+15insC rs201170241 0.00371
NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg) rs141756032 0.00371
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399 0.00370
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282 0.00370
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) rs143037290 0.00369
NM_021102.4(SPINT2):c.592+3A>G rs111990687 0.00368
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00367
NM_015102.5(NPHP4):c.1503+10G>A rs41307782 0.00367
NM_001035.3(RYR2):c.13566C>T (p.Val4522=) rs57360419 0.00366
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00366
NM_004064.5(CDKN1B):c.426G>A (p.Thr142=) rs149775942 0.00366
NM_001005361.3(DNM2):c.2543+7C>G rs201979143 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_015909.4(NBAS):c.4659+12C>G rs114354862 0.00364
NM_000051.4(ATM):c.5497-15G>C rs3092828 0.00363
NM_000760.4(CSF3R):c.1319G>A (p.Arg440Gln) rs3918020 0.00363
NM_001081.4(CUBN):c.10383C>T (p.Ser3461=) rs141937843 0.00363
NM_006790.3(MYOT):c.1008G>T (p.Val336=) rs142828368 0.00363
NM_021098.3(CACNA1H):c.489G>C (p.Gln163His) rs60593994 0.00363
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909 0.00363
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_000335.5(SCN5A):c.4434+13C>T rs148598985 0.00361
NM_015662.3(IFT172):c.4540-6C>T rs146140583 0.00361
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=) rs145955373 0.00360
NM_017491.5(WDR1):c.182T>C (p.Val61Ala) rs200525851 0.00360
NM_032119.4(ADGRV1):c.4864T>C (p.Tyr1622His) rs111753827 0.00358
NM_000540.3(RYR1):c.6732G>A (p.Arg2244=) rs78915828 0.00357
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=) rs45586138 0.00357
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310 0.00357
NM_007074.4(CORO1A):c.804C>T (p.Ser268=) rs149867063 0.00357
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00356
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004 0.00356
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg) rs148509395 0.00356
NM_004387.4(NKX2-5):c.594G>A (p.Gln198=) rs7728764 0.00355
NM_014000.3(VCL):c.1542C>T (p.Val514=) rs7904077 0.00355
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met) rs113861754 0.00355
NM_000335.5(SCN5A):c.1017C>T (p.Tyr339=) rs17215493 0.00354
NM_001243133.2(NLRP3):c.1389C>T (p.His463=) rs111400208 0.00354
NM_001267550.2(TTN):c.7740T>G (p.Ile2580Met) rs146590898 0.00354
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826 0.00353
NM_012073.5(CCT5):c.1059G>A (p.Leu353=) rs114634318 0.00353
NM_000195.5(HPS1):c.*12C>T rs112544050 0.00352
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_002225.5(IVD):c.551-18C>T rs142064071 0.00352
NM_003977.4(AIP):c.100-18C>T rs202156895 0.00352
NM_014629.4(ARHGEF10):c.38-10T>C rs138713415 0.00351
NM_020822.3(KCNT1):c.2376C>T (p.Asp792=) rs149028586 0.00351
NM_001243133.2(NLRP3):c.397+7G>A rs192297357 0.00350
NM_004946.3(DOCK2):c.4295+9C>T rs115134653 0.00350
NM_005984.5(SLC25A1):c.894T>C (p.Asp298=) rs144180074 0.00350
NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp) rs140501902 0.00349
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_183235.3(RAB27A):c.594G>A (p.Val198=) rs141222527 0.00348
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys) rs72646861 0.00347
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613 0.00346
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=) rs141557400 0.00346
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152 0.00345
NM_000330.4(RS1):c.184+3199G>A rs36022183 0.00345
NM_020297.4(ABCC9):c.2523C>T (p.Ala841=) rs144537241 0.00345
NM_000702.4(ATP1A2):c.2943-15C>T rs111510835 0.00344
NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp) rs28910273 0.00344
NM_001458.5(FLNC):c.6005-9T>C rs118124743 0.00344
NM_016343.4(CENPF):c.4182A>G (p.Thr1394=) rs150367049 0.00344
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116 0.00343
NM_001378454.1(ALMS1):c.1182T>C (p.Tyr394=) rs139512700 0.00343
NM_000271.5(NPC1):c.2795+19T>C rs200103695 0.00342
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00342
NM_004260.4(RECQL4):c.543G>A (p.Gln181=) rs34159914 0.00342
NM_000243.3(MEFV):c.1467G>A (p.Gln489=) rs61732424 0.00341
NM_001999.4(FBN2):c.6511+5G>A rs200608284 0.00341
NM_004281.4(BAG3):c.606G>T (p.Pro202=) rs74157690 0.00341
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820 0.00341
NM_182914.3(SYNE2):c.20011G>A (p.Ala6671Thr) rs34820571 0.00341
NM_003661.4(APOL1):c.851G>A (p.Arg284His) rs150685787 0.00340
NM_197947.3(CLEC7A):c.547C>T (p.Leu183Phe) rs140318683 0.00340
NM_001018005.2(TPM1):c.*76A>G rs140658011 0.00339
NM_001365951.3(KIF1B):c.2115+6183T>C rs149241091 0.00339
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468 0.00338
NM_005472.5(KCNE3):c.248G>A (p.Arg83His) rs17215437 0.00338
NM_000252.3(MTM1):c.136+9C>T rs191553188 0.00337
NM_001003800.2(BICD2):c.2445G>A (p.Pro815=) rs34451610 0.00337
NM_002661.5(PLCG2):c.1444T>C (p.Tyr482His) rs187956469 0.00337
NM_003661.4(APOL1):c.809G>A (p.Gly270Asp) rs73403889 0.00337
NM_005546.4(ITK):c.1759G>A (p.Val587Ile) rs56005928 0.00337
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00337
NM_145020.5(CFAP53):c.115A>C (p.Arg39=) rs112087763 0.00337
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767 0.00336
NM_005235.3(ERBB4):c.2745C>T (p.Thr915=) rs75536447 0.00336
NM_006393.3(NEBL):c.480+3A>G rs71578983 0.00336
NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu) rs148934699 0.00336
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=) rs56356283 0.00336
NM_007315.4(STAT1):c.633+6T>A rs45459703 0.00335
NM_020778.5(ALPK3):c.158G>A (p.Arg53Gln) rs145993158 0.00335
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161 0.00335
NM_182914.3(SYNE2):c.20158C>T (p.Arg6720Trp) rs35700578 0.00335
NM_000631.5(NCF4):c.343-4A>G rs79312013 0.00334
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg) rs144180493 0.00334
NM_005198.5(CHKB):c.983A>G (p.Gln328Arg) rs141381896 0.00334
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser) rs2234462 0.00334
NM_018941.4(CLN8):c.777T>C (p.Asn259=) rs34814682 0.00334
NM_000340.2(SLC2A2):c.203C>T (p.Pro68Leu) rs7637863 0.00333
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175 0.00333
NM_001035.3(RYR2):c.13740G>A (p.Thr4580=) rs115854664 0.00333
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219 0.00333
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508 0.00333
NM_004484.4(GPC3):c.1285G>A (p.Val429Met) rs11539789 0.00333
NM_007347.5(AP4E1):c.1177-9T>C rs145851652 0.00333
NM_001271.4(CHD2):c.2577+7T>C rs146944583 0.00332
NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=) rs116900568 0.00332
NM_002972.4(SBF1):c.5604T>C (p.Val1868=) rs141053122 0.00332
NM_147191.1(MMP21):c.1046A>G (p.Glu349Gly) rs28381302 0.00331
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=) rs144679294 0.00330
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly) rs187947581 0.00330
NM_182961.4(SYNE1):c.17542-14A>G rs111686341 0.00330
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 0.00329
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674 0.00329
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300 0.00328
NM_001386795.1(DTNA):c.1435-19T>C rs141620769 0.00328
NM_001130987.2(DYSF):c.2817G>A (p.Ser939=) rs148902254 0.00327
NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val) rs45570339 0.00327
NM_003978.5(PSTPIP1):c.1112C>T (p.Thr371Ile) rs34908107 0.00327
NM_004817.4(TJP2):c.2992-8C>T rs143965233 0.00327
NM_012082.4(ZFPM2):c.2287G>A (p.Val763Ile) rs117908591 0.00327
NM_153365.3(TAPT1):c.1565A>G (p.Asn522Ser) rs16893137 0.00327
NM_001080414.4(CCDC88C):c.4287C>T (p.Thr1429=) rs146028766 0.00326
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00326
NM_001365276.2(TNXB):c.3445+8A>G rs201624002 0.00326
NM_006306.4(SMC1A):c.855-15C>T rs147791932 0.00326
NM_173689.7(CRB2):c.5C>T (p.Ala2Val) rs201425854 0.00326
NM_000032.5(ALAS2):c.-15-1790G>A rs189947718 0.00325
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=) rs140781855 0.00325
NM_001032221.6(STXBP1):c.247-8A>G rs199827018 0.00325
NM_001099922.3(ALG13):c.2248-4A>G rs370438099 0.00325
NM_207361.6(FREM2):c.8460C>G (p.Ala2820=) rs138775857 0.00325
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00324
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841 0.00324
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr) rs72648923 0.00324
NM_001558.4(IL10RA):c.75G>T (p.Glu25Asp) rs150140303 0.00324
NM_001040108.2(MLH3):c.3315C>A (p.Asp1105Glu) rs28757008 0.00323
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992 0.00323
NM_001267550.2(TTN):c.58636G>C (p.Glu19546Gln) rs201840554 0.00323
NM_020822.3(KCNT1):c.99A>G (p.Gln33=) rs146152956 0.00323
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu) rs56226109 0.00322
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=) rs114137271 0.00322
NM_001355436.2(SPTB):c.4618A>C (p.Arg1540=) rs61989884 0.00322
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187 0.00322
NM_004525.3(LRP2):c.2933C>T (p.Thr978Met) rs114842875 0.00322
NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile) rs55662069 0.00322
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_000170.3(GLDC):c.678C>T (p.His226=) rs12006003 0.00320
NM_000022.4(ADA):c.95+9A>G rs765216 0.00319
NM_000878.5(IL2RB):c.235G>A (p.Val79Met) rs149508414 0.00319
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00318
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser) rs34302553 0.00318
NM_001032221.6(STXBP1):c.325+8C>T rs117372398 0.00318
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile) rs141624266 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_001009944.3(PKD1):c.11976C>G (p.Ala3992=) rs112387277 0.00317
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754 0.00317
NM_004281.4(BAG3):c.181-9T>A rs139232658 0.00317
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_001363.5(DKC1):c.776A>C (p.His259Pro) rs61757608 0.00316
NM_001365276.2(TNXB):c.4562C>T (p.Ala1521Val) rs146120469 0.00316
NM_001386298.1(CIC):c.577A>T (p.Thr193Ser) rs547565552 0.00316
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=) rs137853918 0.00316
NM_000053.4(ATP7B):c.3557-6C>T rs140708492 0.00314
NM_001164508.2(NEB):c.22122C>G (p.Asp7374Glu) rs192402741 0.00314
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe) rs145403829 0.00314
NM_020987.5(ANK3):c.6955G>A (p.Asp2319Asn) rs140463162 0.00314
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val) rs140951974 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_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151 0.00313
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) rs55857552 0.00313
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp) rs143690392 0.00313
NM_001267550.2(TTN):c.31847-17A>G rs72650025 0.00313
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=) rs76794400 0.00313
NM_001009944.3(PKD1):c.12436G>A (p.Val4146Ile) rs148478410 0.00312
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598 0.00312
NM_001365951.3(KIF1B):c.2115+7031T>C rs149267056 0.00312
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_002292.4(LAMB2):c.3858G>T (p.Val1286=) rs34967349 0.00312
NM_003664.5(AP3B1):c.2613C>T (p.His871=) rs144420604 0.00312
NM_007078.3(LDB3):c.147G>A (p.Val49=) rs45591834 0.00312
NM_024675.4(PALB2):c.1572A>G (p.Ser524=) rs45472400 0.00312
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_003476.5(CSRP3):c.508+18C>T rs144404101 0.00311
NM_004281.4(BAG3):c.187C>G (p.Pro63Ala) rs144041999 0.00311
NM_007126.5(VCP):c.1360-14C>G rs144304208 0.00311
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser) rs144692954 0.00310
NM_017636.4(TRPM4):c.3611C>T (p.Pro1204Leu) rs150391806 0.00310
NM_000726.5(CACNB4):c.599-15G>A rs41270209 0.00309
NM_019066.5(MAGEL2):c.225G>A (p.Pro75=) rs564216035 0.00309
NM_024675.4(PALB2):c.1419A>C (p.Pro473=) rs62625275 0.00309
NM_033004.4(NLRP1):c.2605G>A (p.Glu869Lys) rs146505967 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_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp) rs146709251 0.00308
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_015937.6(PIGT):c.1061C>T (p.Ala354Val) rs146896700 0.00308
NM_017553.3(INO80):c.452A>G (p.Asn151Ser) rs145473172 0.00308
NM_000536.4(RAG2):c.22G>A (p.Val8Ile) rs150762709 0.00307
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380 0.00307
NM_005120.3(MED12):c.1248+15T>C rs187377817 0.00307
NM_030930.4(UNC93B1):c.393-10C>T rs117183629 0.00307
NM_001009944.3(PKD1):c.3296-15G>A rs201704201 0.00306
NM_001177316.2(SLC34A3):c.1512C>T (p.Phe504=) rs146854507 0.00306
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675 0.00306
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00305
NM_001111.5(ADAR):c.2553C>T (p.Cys851=) rs138927668 0.00304
NM_001963.6(EGF):c.2433G>A (p.Val811=) rs149396988 0.00304
NM_004656.4(BAP1):c.1026C>T (p.Ser342=) rs71651686 0.00304
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_001458.5(FLNC):c.4928-7T>C rs201957008 0.00303
NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln) rs150221689 0.00303
NM_006218.4(PIK3CA):c.1143C>G (p.Pro381=) rs72561481 0.00303
NM_015909.4(NBAS):c.4913G>A (p.Arg1638His) rs146449593 0.00303
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) rs142813109 0.00303
NM_000065.5(C6):c.2067C>T (p.Asp689=) rs28651920 0.00302
NM_000789.4(ACE):c.3304C>A (p.Pro1102Thr) rs145349565 0.00302
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) rs121908601 0.00302
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00302
NM_000540.3(RYR1):c.8376G>A (p.Arg2792=) rs150388417 0.00301
NM_001264.5(CDSN):c.1302C>A (p.Ser434Arg) rs150846158 0.00301
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925 0.00301
NM_015450.3(POT1):c.903G>T (p.Gln301His) rs116916706 0.00301
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451 0.00300
NM_000890.5(KCNJ5):c.121C>T (p.Arg41Cys) rs115012103 0.00300
NM_001715.3(BLK):c.713G>A (p.Arg238Gln) rs141865425 0.00300
NM_007294.4(BRCA1):c.114G>A (p.Lys38=) rs1800062 0.00300
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00299
NM_001130823.3(DNMT1):c.891+8C>T rs117294281 0.00299
NM_003466.4(PAX8):c.1317A>G (p.Ala439=) rs368201100 0.00299
NM_004655.4(AXIN2):c.1530G>A (p.Thr510=) rs141014640 0.00299
NM_021098.3(CACNA1H):c.2354A>T (p.Lys785Met) rs28365117 0.00299
NM_001261826.3(AP3D1):c.463-4G>A rs192634153 0.00298
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245 0.00298
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116 0.00298
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437 0.00297
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_000760.4(CSF3R):c.447G>C (p.Glu149Asp) rs139332126 0.00297
NM_001378454.1(ALMS1):c.10464A>G (p.Val3488=) rs28730858 0.00297
NM_001458.5(FLNC):c.2078A>C (p.Asp693Ala) rs34972246 0.00297
NM_003193.5(TBCE):c.214C>T (p.Pro72Ser) rs62620041 0.00297
NM_014714.4(IFT140):c.1542C>A (p.Leu514=) rs141542834 0.00297
NM_019055.6(ROBO4):c.1985G>A (p.Gly662Asp) rs145067866 0.00297
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00297
NM_198576.4(AGRN):c.1993G>A (p.Glu665Lys) rs143324306 0.00297
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00296
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln) rs188054898 0.00296
NM_007126.5(VCP):c.1704A>G (p.Gln568=) rs142577424 0.00296
NM_025074.7(FRAS1):c.8832C>T (p.Ser2944=) rs114854941 0.00296
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=) rs34439033 0.00295
NM_001848.3(COL6A1):c.1182+3G>A rs62215499 0.00295
NM_003954.5(MAP3K14):c.114C>T (p.Ser38=) rs143313926 0.00295
NM_005751.5(AKAP9):c.7275G>A (p.Gln2425=) rs61757672 0.00295
NM_007315.4(STAT1):c.990G>A (p.Gln330=) rs41509946 0.00295
NM_020831.6(MRTFA):c.1332G>A (p.Pro444=) rs148478967 0.00295
NM_020964.3(EPG5):c.2063T>C (p.Phe688Ser) rs61978576 0.00295
NM_021098.3(CACNA1H):c.5445+4C>T rs147142971 0.00295
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654 0.00294
NM_000238.4(KCNH2):c.3152+12C>A rs72549420 0.00293
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) rs11466018 0.00293
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser) rs2229194 0.00293
NM_014043.4(CHMP2B):c.34+8C>T rs35413339 0.00293
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203 0.00293
NM_031157.4(HNRNPA1):c.133-17A>G rs74625894 0.00293
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn) rs2219594 0.00292
NM_006267.5(RANBP2):c.3162G>T (p.Gln1054His) rs141230513 0.00292
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343 0.00292
NM_007375.4(TARDBP):c.198T>C (p.Ala66=) rs61730366 0.00292
NM_020778.5(ALPK3):c.1382G>A (p.Gly461Asp) rs34409363 0.00292
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=) rs141743294 0.00292
NM_001458.5(FLNC):c.8003T>C (p.Met2668Thr) rs200502811 0.00291
NM_015909.4(NBAS):c.6932G>A (p.Arg2311His) rs148186764 0.00291
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala) rs201763096 0.00291
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln) rs145217118 0.00290
NM_001077350.3(NPRL3):c.629+9G>C rs142080016 0.00290
NM_001267550.2(TTN):c.69716-5C>G rs72646886 0.00290
NM_001558.4(IL10RA):c.67+8T>C rs200992970 0.00290
NM_001985.3(ETFB):c.58-212A>C rs143144671 0.00290
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_006267.5(RANBP2):c.3163C>T (p.Pro1055Ser) rs140860785 0.00290
NM_006662.3(SRCAP):c.3388C>T (p.Pro1130Ser) rs143519723 0.00290
NM_000371.4(TTR):c.336+19G>A rs75517067 0.00289
NM_001106.4(ACVR2B):c.811-12G>A rs144849143 0.00289
NM_004715.5(CTDP1):c.2274G>A (p.Pro758=) rs140627086 0.00289
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575 0.00288
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_007078.3(LDB3):c.2016C>T (p.Cys672=) rs45578640 0.00288
NM_015991.4(C1QA):c.525C>T (p.Ile175=) rs149050968 0.00288
NM_000051.4(ATM):c.3993+5G>T rs3092842 0.00287
NM_000660.7(TGFB1):c.348C>T (p.Thr116=) rs56281462 0.00287
NM_001199138.2(NLRC4):c.2357G>T (p.Gly786Val) rs149451729 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_004187.5(KDM5C):c.1764G>A (p.Gln588=) rs61733871 0.00287
NM_004484.4(GPC3):c.1167-8T>C rs182950534 0.00287
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00287
NM_020436.5(SALL4):c.2215G>T (p.Ala739Ser) rs41274696 0.00287
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_173551.5(ANKS6):c.658G>A (p.Ala220Thr) rs200419394 0.00287
NM_000053.4(ATP7B):c.2355+13T>G rs139211339 0.00286
NM_000503.6(EYA1):c.840C>A (p.Ile280=) rs55972891 0.00286
NM_013266.4(CTNNA3):c.2142G>A (p.Glu714=) rs115972723 0.00286
NM_138348.6(OTULIN):c.405G>C (p.Leu135=) rs115519180 0.00286
NM_001035.3(RYR2):c.9666C>T (p.Ala3222=) rs116442127 0.00285
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) rs45630557 0.00285
NM_001710.6(CFB):c.1778+9G>A rs188688680 0.00285
NM_000059.4(BRCA2):c.67+62T>G rs11571574 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_000155.4(GALT):c.510C>A (p.Ile170=) rs61735984 0.00283
NM_001035.3(RYR2):c.1218G>A (p.Ser406=) rs147389346 0.00283
NM_001385012.1(NBEA):c.8413G>T (p.Val2805Phe) rs41292207 0.00283
NM_001458.5(FLNC):c.3006G>A (p.Arg1002=) rs61737781 0.00283
NM_021813.4(BACH2):c.15G>A (p.Glu5=) rs45447599 0.00283
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_000170.3(GLDC):c.2053-5C>G rs140877566 0.00282
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266 0.00282
NM_000593.6(TAP1):c.1051-3C>T rs56366814 0.00282
NM_020312.4(COQ9):c.835G>A (p.Asp279Asn) rs76508383 0.00282
NM_145725.3(TRAF3):c.1509C>T (p.Ser503=) rs138943371 0.00282
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=) rs1800219 0.00281
NM_001371596.2(MFSD8):c.1041A>G (p.Val347=) rs148291156 0.00281
NM_014363.6(SACS):c.9846A>G (p.Pro3282=) rs61753111 0.00281
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu) rs112581563 0.00281
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00280
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00280
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=) rs118126378 0.00280
NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile) rs34203644 0.00280
NM_005902.4(SMAD3):c.1154+23A>C rs55678244 0.00280
NM_006393.3(NEBL):c.1450-9T>G rs45628140 0.00280
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=) rs114079815 0.00280
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe) rs186745328 0.00280
NM_018896.5(CACNA1G):c.2907G>A (p.Ala969=) rs60134952 0.00280
NM_020458.4(TTC7A):c.1095G>T (p.Val365=) rs113844968 0.00280
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00279
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00279
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048 0.00279
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) rs28932472 0.00279
NM_003978.5(PSTPIP1):c.652C>T (p.Leu218=) rs35677716 0.00279
NM_000744.7(CHRNA4):c.1352C>T (p.Pro451Leu) rs55915440 0.00278
NM_001014987.2(LAT):c.318T>C (p.Ser106=) rs140327086 0.00278
NM_001278512.2(AP3B2):c.3009G>A (p.Lys1003=) rs184007787 0.00278
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=) rs192386572 0.00278
NM_000257.4(MYH7):c.4788G>A (p.Ser1596=) rs146858930 0.00277
NM_000335.5(SCN5A):c.2436+12G>A rs41312419 0.00277
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=) rs141317474 0.00277
NM_001031725.6(DDX59):c.148G>C (p.Ala50Pro) rs150913822 0.00277
NM_001031725.6(DDX59):c.251G>C (p.Ser84Thr) rs146060105 0.00277
NM_001458.5(FLNC):c.1425C>T (p.Asn475=) rs143610360 0.00277
NM_001558.4(IL10RA):c.136A>G (p.Thr46Ala) rs112317511 0.00277
NM_014994.3(MAPKBP1):c.1156G>A (p.Val386Ile) rs75869993 0.00277
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) rs34000644 0.00277
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00277
NM_015331.3(NCSTN):c.1249A>T (p.Asn417Tyr) rs143039637 0.00277
NM_020778.5(ALPK3):c.5012C>T (p.Ala1671Val) rs36002219 0.00277
NM_173689.7(CRB2):c.1236C>T (p.Ile412=) rs55641439 0.00277
NM_000152.5(GAA):c.1552-13G>A rs111261964 0.00276
NM_012464.5(TLL1):c.917+9C>T rs189686236 0.00276
NM_032415.7(CARD11):c.1630A>C (p.Ile544Leu) rs147687933 0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) rs61737803 0.00275
NM_001558.4(IL10RA):c.696C>T (p.Thr232=) rs4252311 0.00275
NM_004211.5(SLC6A5):c.2070C>T (p.Thr690=) rs144357826 0.00275
NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala) rs56204478 0.00275
NM_138927.4(SON):c.5754T>C (p.Val1918=) rs150122403 0.00275
NM_000257.4(MYH7):c.4353+10G>A rs202205780 0.00274
NM_000969.5(RPL5):c.3+3G>C rs200628272 0.00274
NM_001145252.3(CFP):c.157G>A (p.Val53Met) rs8177068 0.00274
NM_003151.4(STAT4):c.1338C>A (p.Thr446=) rs144421302 0.00274
NM_003764.4(STX11):c.546G>A (p.Glu182=) rs146949718 0.00274
NM_007315.4(STAT1):c.1347+8T>G rs16833147 0.00274
NM_016729.3(FOLR1):c.292C>T (p.Arg98Trp) rs76191655 0.00274
NM_017760.7(NCAPG2):c.1147-7C>T rs144010950 0.00274
NM_018389.5(SLC35C1):c.522C>T (p.Cys174=) rs141379070 0.00274
NM_020822.3(KCNT1):c.333G>A (p.Ser111=) rs56008253 0.00274
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser) rs201733037 0.00274
NM_001365951.3(KIF1B):c.2330A>G (p.Asn777Ser) rs117525287 0.00273
NM_001370466.1(NOD2):c.1188G>T (p.Val396=) rs77966199 0.00273
NM_000059.4(BRCA2):c.67+82C>G rs189026060 0.00272
NM_000065.5(C6):c.2518G>A (p.Gly840Ser) rs142836385 0.00272
NM_000246.4(CIITA):c.2448C>T (p.Ala816=) rs112250421 0.00272
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176 0.00272
NM_001943.5(DSG2):c.2211C>T (p.Gly737=) rs74578148 0.00272
NM_006267.5(RANBP2):c.8407A>G (p.Ile2803Val) rs61758804 0.00272
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) rs150880478 0.00272
NM_001943.5(DSG2):c.2886T>G (p.Ile962Met) rs79229040 0.00271
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) rs45550635 0.00271
NM_004184.4(WARS1):c.25C>G (p.Leu9Val) rs143974221 0.00271
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val) rs186999408 0.00271
NM_000278.5(PAX2):c.360C>T (p.Ala120=) rs41291450 0.00270
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=) rs142002333 0.00270
NM_001943.5(DSG2):c.2586T>C (p.Ser862=) rs78310842 0.00270
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926 0.00270
NM_002206.3(ITGA7):c.2569G>A (p.Gly857Ser) rs149081471 0.00270
NM_017864.4(INTS8):c.2766T>C (p.His922=) rs34558403 0.00270
NM_000186.4(CFH):c.428-14T>C rs184188486 0.00269
NM_001308093.3(GATA4):c.825C>T (p.Cys275=) rs55980825 0.00269
NM_018979.4(WNK1):c.5281-4G>A rs72650740 0.00269
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met) rs61757691 0.00269
NM_024426.6(WT1):c.181C>A (p.Arg61=) rs2234581 0.00269
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_000022.4(ADA):c.162G>A (p.Lys54=) rs45557242 0.00267
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=) rs3729821 0.00267
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=) rs45489099 0.00267
NM_001148.6(ANK2):c.4152T>C (p.Asp1384=) rs116128106 0.00267
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His) rs181104321 0.00267
NM_006516.4(SLC2A1):c.1296C>T (p.Tyr432=) rs75485205 0.00267
NM_014000.3(VCL):c.3258+10A>T rs71579379 0.00267
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_000213.5(ITGB4):c.4008C>T (p.Asp1336=) rs61735288 0.00266
NM_000393.5(COL5A2):c.2032-7G>A rs141571092 0.00265
NM_001127198.5(TMC6):c.1536-4G>A rs117553598 0.00265
NM_003047.5(SLC9A1):c.1356C>T (p.Ile452=) rs35607809 0.00265
NM_182919.4(TICAM1):c.1702G>A (p.Ala568Thr) rs143679494 0.00265
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811 0.00264
NM_003480.4(MFAP5):c.6G>A (p.Ser2=) rs4132450 0.00264
NM_005045.4(RELN):c.906C>T (p.Ala302=) rs114494558 0.00264
NM_014639.4(SKIC3):c.4344A>G (p.Leu1448=) rs139074002 0.00264
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser) rs140824939 0.00264
NM_000218.3(KCNQ1):c.-5T>C rs532941548 0.00263
NM_001148.6(ANK2):c.1401A>G (p.Ala467=) rs142159132 0.00263
NM_015202.5(KATNIP):c.1303C>T (p.Leu435=) rs147645225 0.00263
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949 0.00262
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala) rs77968867 0.00262
NM_001378454.1(ALMS1):c.2658A>G (p.Lys886=) rs80133984 0.00262
NM_003466.4(PAX8):c.1189+15G>A rs149585280 0.00262
NM_005026.5(PIK3CD):c.1809G>C (p.Leu603=) rs151278626 0.00262
NM_005184.4(CALM3):c.201G>A (p.Pro67=) rs34089805 0.00262
NM_198525.3(KIF7):c.2192-13C>T rs201251064 0.00262
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00261
NM_000257.4(MYH7):c.2162+4G>A rs145738465 0.00261
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_001122681.2(SH3BP2):c.1429C>T (p.Arg477Trp) rs148761331 0.00261
NM_001379286.1(ZNF423):c.3393C>T (p.Pro1131=) rs61755180 0.00261
NM_020297.4(ABCC9):c.2093-7T>C rs185235724 0.00261
NM_152564.5(VPS13B):c.9330+9A>G rs184381851 0.00261
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) rs149758808 0.00261
NM_006947.4(SRP72):c.58C>T (p.Arg20Trp) rs111673705 0.00260
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224 0.00259
NM_001148.6(ANK2):c.3543C>T (p.Ala1181=) rs76685232 0.00259
NM_002230.4(JUP):c.2025T>C (p.His675=) rs140670556 0.00259
NM_002693.3(POLG):c.948G>A (p.Lys316=) rs61756401 0.00259
NM_003978.5(PSTPIP1):c.147G>A (p.Ala49=) rs34618738 0.00259
NM_013372.7(GREM1):c.103C>G (p.Pro35Ala) rs111262341 0.00259
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409 0.00259
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe) rs148663672 0.00259
NM_182914.3(SYNE2):c.20410G>A (p.Asp6804Asn) rs150644129 0.00259
NM_001008537.3(NEXMIF):c.4246C>T (p.Pro1416Ser) rs143577015 0.00258
NM_001077350.3(NPRL3):c.1024G>T (p.Val342Leu) rs11558704 0.00258
NM_004958.4(MTOR):c.6624T>C (p.Leu2208=) rs56051835 0.00258
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689 0.00258
NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr) rs72648913 0.00258
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg) rs117844037 0.00256
NM_014000.3(VCL):c.2025G>A (p.Val675=) rs140766884 0.00256
NM_001365999.1(SZT2):c.6573C>T (p.Asp2191=) rs114046098 0.00255
NM_004958.4(MTOR):c.985G>A (p.Ala329Thr) rs35903812 0.00255
NM_018344.6(SLC29A3):c.1001A>G (p.Asn334Ser) rs144665176 0.00255
NM_020297.4(ABCC9):c.407-14C>A rs201279882 0.00255
NM_001023570.4(IQCB1):c.588T>C (p.Ser196=) rs80015876 0.00254
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=) rs138498780 0.00254
NM_004463.3(FGD1):c.676G>A (p.Ala226Thr) rs138723423 0.00254
NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln) rs148468628 0.00254
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr) rs114015043 0.00254
NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val) rs147223770 0.00254
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_000271.5(NPC1):c.1071G>A (p.Ser357=) rs61731964 0.00253
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890 0.00253
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_001365276.2(TNXB):c.9612C>T (p.Asp3204=) rs61746872 0.00253
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser) rs143877693 0.00253
NM_022168.4(IFIH1):c.2105C>T (p.Thr702Ile) rs72650663 0.00253
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp) rs1872267 0.00253
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378 0.00252
NM_001458.5(FLNC):c.4737+15A>G rs182734223 0.00252
NM_002972.4(SBF1):c.898-18G>A rs369814596 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_000204.5(CFI):c.1322A>G (p.Lys441Arg) rs41278047 0.00251
NM_001148.6(ANK2):c.3366C>T (p.Asn1122=) rs114896457 0.00251
NM_014915.3(ANKRD26):c.2332G>C (p.Glu778Gln) rs139949439 0.00251
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_000341.4(SLC3A1):c.231T>A (p.Ser77=) rs146630359 0.00250
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) rs142647321 0.00250
NM_003042.4(SLC6A1):c.1243C>A (p.Leu415Ile) rs112095333 0.00250
NM_003665.4(FCN3):c.750C>T (p.His250=) rs28385652 0.00250
NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro) rs76177450 0.00250
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123 0.00250
NM_015202.5(KATNIP):c.2175T>C (p.Pro725=) rs146330054 0.00250
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NM_030787.4(CFHR5):c.732C>T (p.Asn244=) rs41306229 0.00250
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_005633.4(SOS1):c.2673+14T>C rs183998234 0.00249
NM_000276.4(OCRL):c.439+3A>G rs61752971 0.00248
NM_000505.4(F12):c.418C>G (p.Leu140Val) rs35515200 0.00248
NM_005629.4(SLC6A8):c.813C>T (p.Val271=) rs138064933 0.00248
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00247
NM_000718.4(CACNA1B):c.4473+17G>A rs80100052 0.00247
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=) rs368002375 0.00247
NM_001290043.2(TAP2):c.1755A>G (p.Ala585=) rs79098150 0.00247
NM_002972.4(SBF1):c.4833C>T (p.Asn1611=) rs199573140 0.00247
NM_014000.3(VCL):c.2023-20A>G rs143756084 0.00247
NM_032119.4(ADGRV1):c.17856+11G>A rs187039736 0.00247
NM_004260.4(RECQL4):c.1390+3G>A rs148912524 0.00246
NM_014804.3(KIAA0753):c.1545+10C>T rs147784976 0.00246
NM_015650.4(TRAF3IP1):c.1199A>C (p.Asp400Ala) rs61756349 0.00246
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00245
NM_000338.3(SLC12A1):c.2067G>A (p.Gly689=) rs35783293 0.00245
NM_000389.5(CDKN1A):c.251G>A (p.Arg84Gln) rs34916193 0.00245
NM_001005242.3(PKP2):c.1171-11T>C rs183414126 0.00245
NM_001365088.1(SLC12A6):c.3042+8A>G rs186141509 0.00245
NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=) rs201446579 0.00245
NM_002474.3(MYH11):c.5691C>T (p.Asn1897=) rs149566621 0.00245
NM_032119.4(ADGRV1):c.3295A>G (p.Thr1099Ala) rs61754947 0.00245
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00244
NM_001164508.2(NEB):c.12667G>A (p.Ala4223Thr) rs12998234 0.00244
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077 0.00244
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser) rs146197239 0.00244
NM_173689.7(CRB2):c.1464G>A (p.Leu488=) rs145392563 0.00244
NM_000211.5(ITGB2):c.147+9C>T rs199948899 0.00243
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00243
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00243
NM_001081.4(CUBN):c.1470G>A (p.Pro490=) rs143255616 0.00243
NM_001232.4(CASQ2):c.198G>A (p.Thr66=) rs74114618 0.00243
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260 0.00243
NM_001711.6(BGN):c.357C>T (p.Leu119=) rs146322407 0.00243
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=) rs113154524 0.00243
NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=) rs138049720 0.00243
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00243
NM_138694.4(PKHD1):c.1950G>A (p.Arg650=) rs143226202 0.00243
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_000186.4(CFH):c.3150T>C (p.Asn1050=) rs113347629 0.00242
NM_002474.3(MYH11):c.453G>A (p.Pro151=) rs61734199 0.00242
NM_003467.3(CXCR4):c.783C>T (p.Ile261=) rs148279552 0.00242
NM_005619.5(RTN2):c.1168G>A (p.Gly390Ser) rs143937661 0.00242
NM_005918.4(MDH2):c.982A>C (p.Lys328Gln) rs144919730 0.00242
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00241
NM_001394998.1(TANC2):c.3549C>T (p.Ser1183=) rs138962211 0.00241
NM_000152.5(GAA):c.2481+16G>A rs41292408 0.00240
NM_000875.5(IGF1R):c.2782+17G>A rs186895929 0.00240
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr) rs139468837 0.00240
NM_005548.3(KARS1):c.1674C>T (p.Leu558=) rs143267922 0.00240
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_013266.4(CTNNA3):c.1133G>A (p.Arg378His) rs143682596 0.00240
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu) rs114435632 0.00240
NM_018896.5(CACNA1G):c.1925-10C>T rs139447235 0.00240
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_000257.4(MYH7):c.3853+7C>T rs45467397 0.00239
NM_000726.5(CACNB4):c.655A>G (p.Met219Val) rs201870832 0.00239
NM_001035.3(RYR2):c.6441-19C>T rs140440259 0.00239
NM_002292.4(LAMB2):c.109C>G (p.Pro37Ala) rs144765752 0.00239
NM_017662.5(TRPM6):c.633T>C (p.Gly211=) rs144221623 0.00239
NM_000093.5(COL5A1):c.378G>T (p.Gln126His) rs145178917 0.00238
NM_000335.5(SCN5A):c.1890+14G>A rs145427253 0.00238
NM_001191061.2(SLC25A22):c.705T>C (p.Ala235=) rs142861804 0.00238
NM_001379081.2(FREM1):c.6528C>T (p.Ser2176=) rs144454947 0.00238
NM_002471.4(MYH6):c.1449C>T (p.Asn483=) rs145447555 0.00238
NM_021813.4(BACH2):c.2103A>G (p.Glu701=) rs116588681 0.00238
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_001009944.3(PKD1):c.9795C>T (p.Ser3265=) rs150949575 0.00237
NM_021098.3(CACNA1H):c.6418G>A (p.Ala2140Thr) rs59487037 0.00237
NM_182961.4(SYNE1):c.18185C>T (p.Ser6062Leu) rs139790539 0.00237
NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser) rs551521196 0.00237
NM_000426.4(LAMA2):c.4959+6G>T rs148060790 0.00236
NM_001379110.1(SLC9A6):c.1460+4A>G rs180727016 0.00236
NM_001569.4(IRAK1):c.1104C>T (p.Ala368=) rs11556424 0.00236
NM_001605.3(AARS1):c.1672-4T>A rs187509039 0.00236
NM_004360.5(CDH1):c.345G>A (p.Thr115=) rs1801023 0.00236
NM_005186.4(CAPN1):c.1781T>C (p.Val594Ala) rs148743672 0.00236
NM_014141.6(CNTNAP2):c.681C>T (p.His227=) rs142984073 0.00236
NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp) rs116836001 0.00235
NM_001569.4(IRAK1):c.361A>C (p.Ile121Leu) rs201911518 0.00235
NM_002292.4(LAMB2):c.2307C>T (p.Leu769=) rs147076626 0.00235
NM_053025.4(MYLK):c.3242A>G (p.His1081Arg) rs113491038 0.00235
NM_144573.4(NEXN):c.1659+18C>G rs147422621 0.00235
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196 0.00234
NM_001385012.1(NBEA):c.282G>A (p.Thr94=) rs201561325 0.00234
NM_005257.6(GATA6):c.1374C>T (p.Asn458=) rs143026087 0.00234
NM_198252.3(GSN):c.597C>T (p.Asn199=) rs146329975 0.00234
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953 0.00233
NM_005045.4(RELN):c.4408G>A (p.Val1470Ile) rs143213152 0.00233
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567 0.00233
NM_000137.4(FAH):c.1259G>A (p.Ter420=) rs61747586 0.00232
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile) rs41280110 0.00232
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780 0.00232
NM_000611.6(CD59):c.18G>A (p.Gly6=) rs111771149 0.00232
NM_001037.5(SCN1B):c.267C>T (p.Arg89=) rs140949982 0.00232
NM_001308093.3(GATA4):c.462C>T (p.Phe154=) rs56348550 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_016356.5(DCDC2):c.855A>G (p.Ser285=) rs141519329 0.00232
NM_006393.3(NEBL):c.2654C>T (p.Ser885Phe) rs143584663 0.00231
NM_020774.4(MIB1):c.843A>T (p.Thr281=) rs137957940 0.00231
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=) rs56329646 0.00231
NM_001303256.3(MORC2):c.63A>G (p.Thr21=) rs73156742 0.00230
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly) rs139326669 0.00230
NM_003839.4(TNFRSF11A):c.1348C>T (p.Arg450Trp) rs34945627 0.00230
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=) rs150392503 0.00230
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340 0.00230
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231 0.00229
NM_003265.3(TLR3):c.634-10C>A rs113654222 0.00229
NM_004260.4(RECQL4):c.2463+6C>T rs35029361 0.00229
NM_005186.4(CAPN1):c.1152C>T (p.Cys384=) rs17881532 0.00229
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832 0.00229
NM_005876.5(SPEG):c.6076C>G (p.Arg2026Gly) rs531879999 0.00229
NM_018344.6(SLC29A3):c.128T>G (p.Leu43Arg) rs146764905 0.00229
NM_020247.5(COQ8A):c.948C>T (p.Leu316=) rs55637780 0.00229
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_001105206.3(LAMA4):c.5450T>C (p.Ile1817Thr) rs144482486 0.00228
NM_001366385.1(CARD14):c.1065C>T (p.Cys355=) rs140246774 0.00228
NM_014000.3(VCL):c.1671C>T (p.Asp557=) rs137877092 0.00228
NM_152564.5(VPS13B):c.11392+8G>A rs147921058 0.00228
NM_000285.4(PEPD):c.1098C>T (p.His366=) rs149579451 0.00227
NM_001282225.2(ADA2):c.1045G>A (p.Val349Ile) rs74317375 0.00227
NM_001379081.2(FREM1):c.2796C>T (p.Arg932=) rs138176565 0.00227
NM_006135.3(CAPZA1):c.34G>A (p.Glu12Lys) rs149653791 0.00227
NM_000059.4(BRCA2):c.8953+98T>C rs81002901 0.00226
NM_000282.4(PCCA):c.1236A>G (p.Pro412=) rs41281120 0.00226
NM_000395.3(CSF2RB):c.2526G>A (p.Pro842=) rs75527703 0.00226
NM_000722.4(CACNA2D1):c.2126G>A (p.Ser709Asn) rs78086631 0.00226
NM_002474.3(MYH11):c.4239C>T (p.Ala1413=) rs138573101 0.00226
NM_004990.4(MARS1):c.2204+11G>A rs202080192 0.00226
NM_005751.5(AKAP9):c.1372G>C (p.Ala458Pro) rs143894795 0.00226
NM_201384.3(PLEC):c.12642C>T (p.Ile4214=) rs111227648 0.00226
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00225
NM_001374736.1(DST):c.2256A>T (p.Ser752=) rs113432929 0.00225
NM_003151.4(STAT4):c.1476T>C (p.Ser492=) rs138191914 0.00225
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660 0.00225
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val) rs140067659 0.00225
NM_000211.5(ITGB2):c.1635C>T (p.Asn545=) rs61747606 0.00224
NM_001371596.2(MFSD8):c.66A>T (p.Glu22Asp) rs145529594 0.00224
NM_025193.4(HSD3B7):c.357C>T (p.Thr119=) rs117645456 0.00224
NM_148919.4(PSMB8):c.501C>T (p.Leu167=) rs11540143 0.00224
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp) rs3729799 0.00223
NM_001035.3(RYR2):c.2204-16G>T rs368648602 0.00223
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089 0.00223
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925 0.00223
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=) rs55696153 0.00223
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 0.00223
NM_004990.4(MARS1):c.280-14C>T rs183195960 0.00223
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_152703.5(SAMD9L):c.1503A>G (p.Arg501=) rs75446743 0.00223
NM_198428.3(BBS9):c.2632+9C>A rs148654647 0.00223
NM_000091.5(COL4A3):c.987+20C>G rs141425127 0.00222
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481 0.00222
NM_001148.6(ANK2):c.7132G>A (p.Glu2378Lys) rs141191319 0.00222
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238 0.00222
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599 0.00222
NM_004984.4(KIF5A):c.1293+9G>A rs201749114 0.00222
NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314 0.00221
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00221
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 0.00220
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00220
NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=) rs201683984 0.00220
NM_003661.4(APOL1):c.573C>T (p.Leu191=) rs150846072 0.00220
NM_003664.5(AP3B1):c.2730T>C (p.Thr910=) rs143527588 0.00220
NM_012388.4(BLOC1S6):c.82+10A>G rs370370639 0.00220
NM_019842.4(KCNQ5):c.972A>G (p.Gly324=) rs138701359 0.00220
NM_000186.4(CFH):c.3207T>C (p.Ser1069=) rs62641697 0.00219
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) rs76337075 0.00219
NM_002474.3(MYH11):c.3652-6C>T rs193922630 0.00219
NM_014314.4(RIGI):c.1059C>T (p.Asn353=) rs45471397 0.00219
NM_032608.7(MYO18B):c.2377-4G>A rs200030443 0.00219
NM_152296.5(ATP1A3):c.154-5C>G rs191645384 0.00219
NM_152381.6(XIRP2):c.1052C>T (p.Thr351Ile) rs111563369 0.00219
NM_153240.5(NPHP3):c.2693+17A>G rs200046908 0.00219
NM_182699.4(DDX53):c.319G>T (p.Ala107Ser) rs148588561 0.00219
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299 0.00219
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608 0.00218
NM_000098.3(CPT2):c.1806T>C (p.Phe602=) rs147953465 0.00218
NM_000214.3(JAG1):c.886+19A>T rs200311847 0.00218
NM_000379.4(XDH):c.3536T>C (p.Ile1179Thr) rs139515054 0.00218
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys) rs181347577 0.00218
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser) rs140666848 0.00218
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) rs41278630 0.00218
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575 0.00218
NM_020433.5(JPH2):c.380-6C>T rs201197277 0.00218
NM_032564.5(DGAT2):c.890G>A (p.Arg297Gln) rs140793537 0.00218
NM_001113491.2(SEPTIN9):c.201C>T (p.Gly67=) rs61744333 0.00217
NM_001136219.3(FCGR2A):c.210C>T (p.Ser70=) rs148868087 0.00217
NM_001267550.2(TTN):c.1398+18A>G rs72647849 0.00217
NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln) rs34935550 0.00217
NM_002473.6(MYH9):c.7C>G (p.Gln3Glu) rs56200894 0.00217
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) rs56157422 0.00217
NM_003664.5(AP3B1):c.1040+9T>A rs201876461 0.00217
NM_005506.4(SCARB2):c.445G>A (p.Val149Met) rs147159813 0.00217
NM_007289.4(MME):c.855+6A>T rs41267907 0.00217
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val) rs141625744 0.00216
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804 0.00216
NM_006118.4(HAX1):c.207A>T (p.Pro69=) rs142150013 0.00216
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=) rs61754138 0.00215
NM_000092.5(COL4A4):c.4217-15T>C rs200926310 0.00215
NM_000824.5(GLRB):c.527+7T>C rs138020195 0.00215
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163 0.00215
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=) rs61757111 0.00215
NM_003978.5(PSTPIP1):c.786C>T (p.Asp262=) rs35860563 0.00215
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=) rs146810749 0.00215
NM_000213.5(ITGB4):c.2929C>T (p.Arg977Cys) rs145976111 0.00214
NM_001105206.3(LAMA4):c.5207-14G>C rs112265545 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_001270508.2(TNFAIP3):c.2175G>A (p.Leu725=) rs140354477 0.00214
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser) rs139691746 0.00214
NM_000213.5(ITGB4):c.3861C>T (p.Asn1287=) rs145351926 0.00213
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236 0.00213
NM_000466.3(PEX1):c.473-3C>T rs150576000 0.00213
NM_001127222.2(CACNA1A):c.1345+7C>T rs192536793 0.00213
NM_002047.4(GARS1):c.1031+14T>G rs189589556 0.00213
NM_006393.3(NEBL):c.109T>C (p.Leu37=) rs140734883 0.00213
NM_000334.4(SCN4A):c.1100+7G>A rs200770684 0.00212
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00212
NM_001377.3(DYNC2H1):c.6478-17C>T rs61899765 0.00212
NM_001458.5(FLNC):c.2889G>A (p.Pro963=) rs191892345 0.00212
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239 0.00212
NM_020708.5(SLC12A5):c.96C>T (p.Thr32=) rs143969641 0.00212
NM_000341.4(SLC3A1):c.1398C>T (p.Asn466=) rs140821819 0.00211
NM_000383.4(AIRE):c.1566+8C>T rs72650680 0.00211
NM_001103.4(ACTN2):c.1341C>T (p.Phe447=) rs34785693 0.00211
NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=) rs144520412 0.00211
NM_015967.8(PTPN22):c.1108C>A (p.His370Asn) rs72650671 0.00211
NM_133379.5(TTN):c.11849T>C (p.Ile3950Thr) rs72647897 0.00211
NM_000085.5(CLCNKB):c.171G>A (p.Gly57=) rs150723240 0.00210
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616 0.00210
NM_004525.3(LRP2):c.2079C>T (p.Phe693=) rs145709922 0.00210
NM_004637.6(RAB7A):c.423C>G (p.Ala141=) rs61758751 0.00210
NM_006949.4(STXBP2):c.1538+10C>T rs139200597 0.00210
NM_032588.4(TRIM63):c.597+7G>A rs150672089 0.00210
NM_170707.4(LMNA):c.1761G>A (p.Leu587=) rs80356813 0.00210
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254 0.00209
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=) rs138240658 0.00209
NM_002582.4(PARN):c.1741G>A (p.Gly581Arg) rs75007073 0.00209
NM_013322.3(SNX10):c.25-5T>C rs184384013 0.00209
NM_020297.4(ABCC9):c.3768T>C (p.Leu1256=) rs150303433 0.00209
NM_000170.3(GLDC):c.1156-7C>G rs150095531 0.00208
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_006070.6(TFG):c.415+16A>G rs201290760 0.00208
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser) rs143960329 0.00208
NM_000243.3(MEFV):c.1459G>C (p.Val487Leu) rs104895100 0.00207
NM_000335.5(SCN5A):c.354C>T (p.His118=) rs45533640 0.00207
NM_000522.5(HOXA13):c.1002A>G (p.Leu334=) rs35608915 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_001377265.1(MAPT):c.2091+29G>A rs63751443 0.00206
NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys) rs147232392 0.00206
NM_006946.4(SPTBN2):c.1221C>T (p.His407=) rs143596433 0.00206
NM_053025.4(MYLK):c.755-12C>T rs138877679 0.00206
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_001148.6(ANK2):c.2277+9C>T rs141965666 0.00205
NM_001148.6(ANK2):c.6648C>G (p.Gly2216=) rs140926982 0.00205
NM_001267550.2(TTN):c.1938+10G>C rs190935632 0.00205
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile) rs11900987 0.00205
NM_002972.4(SBF1):c.5625C>T (p.Asp1875=) rs146489206 0.00205
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995 0.00205
NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val) rs2066520 0.00205
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser) rs145277501 0.00205
NM_152564.5(VPS13B):c.4746-14C>T rs112780006 0.00205
NM_001148.6(ANK2):c.10371G>A (p.Thr3457=) rs142908806 0.00204
NM_001191061.2(SLC25A22):c.169G>A (p.Val57Ile) rs150242281 0.00204
NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly) rs200513156 0.00204
NM_001379286.1(ZNF423):c.312C>T (p.Asp104=) rs117266679 0.00204
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00204
NM_006267.5(RANBP2):c.4760G>T (p.Gly1587Val) rs148677577 0.00204
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg) rs137973321 0.00204
NM_033004.4(NLRP1):c.3784-4G>A rs146498193 0.00204
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865 0.00203
NM_001035.3(RYR2):c.10324-4A>G rs72751287 0.00203
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr) rs139872140 0.00203
NM_001009944.3(PKD1):c.12664C>T (p.Leu4222=) rs144370969 0.00202
NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn) rs113870881 0.00202
NM_001202.6(BMP4):c.76T>C (p.Leu26=) rs74486266 0.00202
NM_003647.3(DGKE):c.129G>A (p.Gln43=) rs139071284 0.00202
NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln) rs150374940 0.00202
NM_000211.5(ITGB2):c.162G>A (p.Pro54=) rs138303556 0.00201
NM_004463.3(FGD1):c.2268C>T (p.Cys756=) rs61734178 0.00201
NM_007074.4(CORO1A):c.738G>A (p.Gln246=) rs143729497 0.00201
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_014956.5(CEP164):c.2772C>G (p.Leu924=) rs117473319 0.00201
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621 0.00200
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn) rs114314967 0.00200
NM_025114.4(CEP290):c.251-11T>A rs200666995 0.00200
NM_138927.4(SON):c.3326C>T (p.Ala1109Val) rs144188863 0.00200
NM_198253.3(TERT):c.3105C>T (p.Val1035=) rs181612536 0.00200
NM_000117.3(EMD):c.399+18C>T rs182540760 0.00199
NM_000722.4(CACNA2D1):c.1983G>A (p.Ser661=) rs75158917 0.00199
NM_001308093.3(GATA4):c.99G>T (p.Ala33=) rs56166237 0.00199
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln) rs140621959 0.00199
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00199
NM_133379.5(TTN):c.10917C>T (p.Gly3639=) rs140804168 0.00199
NM_182914.3(SYNE2):c.18039-5T>A rs189611387 0.00199
NM_000258.3(MYL3):c.130-14G>T rs192329378 0.00198
NM_001127255.2(NLRP7):c.2094C>T (p.His698=) rs104895524 0.00198
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00198
NM_003098.3(SNTA1):c.221C>T (p.Pro74Leu) rs572545726 0.00198
NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu) rs138762270 0.00197
NM_002471.4(MYH6):c.3979-7dup rs545343612 0.00197
NM_004415.4(DSP):c.4383G>A (p.Glu1461=) rs140029036 0.00197
NM_181303.2(NLGN3):c.1954A>G (p.Thr652Ala) rs144914894 0.00197
NM_001329943.3(KIAA0586):c.4519G>A (p.Ala1507Thr) rs140026883 0.00196
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436 0.00196
NM_004525.3(LRP2):c.12380G>A (p.Arg4127His) rs142934522 0.00196
NM_005529.7(HSPG2):c.4627-3del rs368983547 0.00196
NM_020433.5(JPH2):c.1794C>A (p.Ser598=) rs369883442 0.00196
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu) rs121908108 0.00196
NM_203447.4(DOCK8):c.4024-4C>T rs111306749 0.00196
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873 0.00195
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=) rs61742381 0.00195
NM_053025.4(MYLK):c.4620-6C>T rs113607507 0.00195
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373 0.00194
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=) rs45522138 0.00194
NM_001105206.3(LAMA4):c.5016T>A (p.Ile1672=) rs148517180 0.00194
NM_001110792.2(MECP2):c.618C>T (p.Ser206=) rs61749711 0.00194
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=) rs142381345 0.00194
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp) rs139134727 0.00194
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) rs61731920 0.00194
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_207361.6(FREM2):c.84C>G (p.Pro28=) rs141718695 0.00194
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_000760.4(CSF3R):c.108C>T (p.Val36=) rs3918011 0.00193
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln) rs72648969 0.00193
NM_001358921.2(COQ2):c.137C>T (p.Pro46Leu) rs566165293 0.00193
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_015937.6(PIGT):c.675T>C (p.Val225=) rs147475258 0.00193
NM_016373.4(WWOX):c.1197G>A (p.Ala399=) rs376935572 0.00193
NM_019888.3(MC3R):c.658C>A (p.Arg220Ser) rs61735259 0.00193
NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu) rs149978500 0.00193
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_001012339.3(DNAJC21):c.316-8T>G rs182094106 0.00192
NM_003000.3(SDHB):c.423+20T>A rs190139590 0.00192
NM_015158.5(KANK1):c.3609G>A (p.Ala1203=) rs114625699 0.00192
NM_000392.5(ABCC2):c.159A>G (p.Lys53=) rs17222596 0.00191
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049 0.00191
NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=) rs113380721 0.00191
NM_003664.5(AP3B1):c.1857T>G (p.Leu619=) rs115892142 0.00191
NM_005670.4(EPM2A):c.719-4G>A rs145030227 0.00191
NM_058246.4(DNAJB6):c.279C>T (p.Phe93=) rs149278319 0.00191
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628 0.00190
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00190
NM_000551.4(VHL):c.340+5G>C rs61758376 0.00190
NM_001040142.2(SCN2A):c.5910G>A (p.Thr1970=) rs75057869 0.00190
NM_001113378.2(FANCI):c.3592-8T>C rs185599057 0.00190
NM_001605.3(AARS1):c.2521-3C>T rs200586605 0.00190
NM_001943.5(DSG2):c.6G>A (p.Ala2=) rs368809971 0.00190
NM_001963.6(EGF):c.1602G>A (p.Lys534=) rs140682556 0.00190
NM_003647.3(DGKE):c.1679A>G (p.Gln560Arg) rs61751972 0.00190
NM_022786.3(ARV1):c.64A>T (p.Thr22Ser) rs143532693 0.00190
NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser) rs62001015 0.00189
NM_001267550.2(TTN):c.5823A>G (p.Arg1941=) rs149668487 0.00189
NM_001270508.2(TNFAIP3):c.1939A>C (p.Thr647Pro) rs142253225 0.00189
NM_001360.3(DHCR7):c.321+10C>T rs377108406 0.00189
NM_024426.6(WT1):c.123G>C (p.Pro41=) rs555140661 0.00189
NM_032119.4(ADGRV1):c.14943G>C (p.Gln4981His) rs200153555 0.00189
NM_152617.4(RNF168):c.1278C>T (p.Thr426=) rs115264746 0.00189
NM_194454.3(KRIT1):c.1245T>G (p.Ile415Met) rs41278788 0.00189
NM_000383.4(AIRE):c.1065C>T (p.Pro355=) rs201551372 0.00188
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser) rs191692293 0.00188
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala) rs182491843 0.00188
NM_002972.4(SBF1):c.2079C>T (p.His693=) rs199672732 0.00188
NM_004958.4(MTOR):c.663C>G (p.Thr221=) rs112439072 0.00188
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00188
NM_080424.4(SP110):c.584-10C>G rs148591984 0.00188
NM_182746.3(MCM4):c.961C>T (p.Arg321Cys) rs142732823 0.00188
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157 0.00186
NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser) rs72648245 0.00186
NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His) rs201214794 0.00186
NM_000540.3(RYR1):c.9555-9G>A rs149569999 0.00185
NM_006929.5(SKIC2):c.1705G>A (p.Val569Met) rs144147284 0.00185
NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro) rs76757102 0.00185
NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val) rs140899003 0.00185
NM_000091.5(COL4A3):c.3566-9T>C rs147886850 0.00184
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys) rs193056942 0.00184
NM_003611.3(OFD1):c.1654+8A>G rs200767363 0.00184
NM_014391.3(ANKRD1):c.208-15G>A rs116511484 0.00184
NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser) rs116035946 0.00184
NM_000051.4(ATM):c.8269-14A>T rs114320959 0.00183
NM_000064.4(C3):c.3216G>T (p.Arg1072=) rs137880434 0.00183
NM_000587.4(C7):c.1341G>A (p.Glu447=) rs150696042 0.00183
NM_001366385.1(CARD14):c.2569+4T>C rs146678380 0.00183
NM_004415.4(DSP):c.1488G>A (p.Thr496=) rs35820473 0.00183
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=) rs142611198 0.00183
NM_020655.4(JPH3):c.406G>A (p.Gly136Ser) rs149647215 0.00183
NM_152424.4(AMER1):c.85G>A (p.Ala29Thr) rs138399473 0.00183
NM_203446.3(SYNJ1):c.3369A>G (p.Pro1123=) rs368850131 0.00183
NM_000093.5(COL5A1):c.4230+5C>T rs142248898 0.00182
NM_000443.4(ABCB4):c.1893+6T>C rs8187798 0.00182
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=) rs150378053 0.00182
NM_001130823.3(DNMT1):c.150C>T (p.His50=) rs146112081 0.00182
NM_001378969.1(KCND3):c.627G>C (p.Thr209=) rs149299911 0.00182
NM_002335.4(LRP5):c.4380C>T (p.Ser1460=) rs11574420 0.00182
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00182
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458 0.00182
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=) rs145144233 0.00182
NM_020822.3(KCNT1):c.3383C>T (p.Ala1128Val) rs143704418 0.00182
NM_001128178.3(NPHP1):c.1270-4C>T rs151204566 0.00181
NM_014704.4(CEP104):c.1169A>G (p.His390Arg) rs145728798 0.00181
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896 0.00180
NM_000301.5(PLG):c.1259G>A (p.Gly420Asp) rs139071351 0.00180
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425 0.00180
NM_001605.3(AARS1):c.2459A>G (p.Lys820Arg) rs147319762 0.00180
NM_020738.4(KIDINS220):c.3586-7T>C rs139887022 0.00180
NM_032119.4(ADGRV1):c.12527+6G>T rs141701016 0.00180
NM_000722.4(CACNA2D1):c.2837-7A>G rs112176710 0.00179
NM_001382347.1(MYO5A):c.5234+12C>T rs113067572 0.00179
NM_001395656.1(ROBO2):c.1956T>C (p.Thr652=) rs61731263 0.00179
NM_005477.3(HCN4):c.3350C>T (p.Pro1117Leu) rs140402087 0.00179
NM_006231.4(POLE):c.2561+6T>C rs116231808 0.00179
NM_033118.4(MYLK2):c.1295+4C>A rs113936360 0.00179
NM_000204.5(CFI):c.1443C>T (p.Val481=) rs114091883 0.00178
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700 0.00178
NM_001009944.3(PKD1):c.8713G>A (p.Val2905Ile) rs147788838 0.00178
NM_001148.6(ANK2):c.11465G>C (p.Gly3822Ala) rs79577190 0.00178
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=) rs2234473 0.00178
NM_022168.4(IFIH1):c.1046A>G (p.Lys349Arg) rs72650664 0.00178
NM_031471.6(FERMT3):c.1317G>A (p.Gln439=) rs72920390 0.00178
NM_032193.4(RNASEH2C):c.468+13G>A rs182000627 0.00178
NM_130849.4(SLC39A4):c.504G>A (p.Glu168=) rs138825974 0.00178
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) rs149146258 0.00178
NM_198253.3(TERT):c.2517G>A (p.Thr839=) rs140124989 0.00178
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) rs151013014 0.00177
NM_000377.3(WAS):c.1378C>T (p.Pro460Ser) rs143885622 0.00177
NM_000572.3(IL10):c.43G>A (p.Gly15Arg) rs145922845 0.00177
NM_001458.5(FLNC):c.561C>T (p.Asp187=) rs149474376 0.00177
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val) rs142025324 0.00177
NM_014425.5(INVS):c.3017-5T>G rs201018893 0.00177
NM_016599.5(MYOZ2):c.76+20G>A rs113920336 0.00177
NM_021023.6(CFHR3):c.53G>C (p.Gly18Ala) rs140313679 0.00177
NM_030930.4(UNC93B1):c.239-6C>T rs182093266 0.00177
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_000350.3(ABCA4):c.2588-12C>G rs61751396 0.00176
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919 0.00176
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00176
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu) rs139029314 0.00176
NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu) rs138825640 0.00175
NM_000301.5(PLG):c.1878-6T>C rs192519670 0.00175
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322 0.00175
NM_001080414.4(CCDC88C):c.6027G>A (p.Pro2009=) rs200979954 0.00175
NM_001244008.2(KIF1A):c.2958G>C (p.Val986=) rs186881889 0.00175
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=) rs199714102 0.00175
NM_001710.6(CFB):c.1143C>T (p.Arg381=) rs150920440 0.00175
NM_004281.4(BAG3):c.25A>G (p.Met9Val) rs137965903 0.00175
NM_004357.5(CD151):c.84+13C>T rs201750899 0.00175
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987 0.00175
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00174
NM_001283009.2(RTEL1):c.2444G>T (p.Ser815Ile) rs150461578 0.00174
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748 0.00174
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461 0.00174
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln) rs201619500 0.00174
NM_177438.3(DICER1):c.3972G>A (p.Lys1324=) rs45562437 0.00174
NM_182643.3(DLC1):c.3856-6G>A rs200102232 0.00174
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542 0.00174
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00173
NM_001267550.2(TTN):c.29963-13A>G rs72650008 0.00173
NM_001458.5(FLNC):c.2390-9T>C rs368068407 0.00173
NM_005060.4(RORC):c.990C>T (p.Tyr330=) rs61754474 0.00173
NM_015713.5(RRM2B):c.48+265C>G rs550765773 0.00173
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00172
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00172
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747 0.00172
NM_004944.4(DNASE1L3):c.543G>A (p.Ala181=) rs61730077 0.00172
NM_005918.4(MDH2):c.480G>A (p.Val160=) rs139959689 0.00172
NM_014639.4(SKIC3):c.1848A>G (p.Thr616=) rs145518834 0.00172
NM_000044.6(AR):c.636G>A (p.Arg212=) rs150226204 0.00171
NM_001105206.3(LAMA4):c.2250G>A (p.Gln750=) rs112305543 0.00171
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294 0.00171
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser) rs113667224 0.00171
NM_006279.5(ST3GAL3):c.618C>T (p.Arg206=) rs115003742 0.00171
NM_013266.4(CTNNA3):c.1195C>A (p.Leu399Ile) rs115276158 0.00171
NM_001148.6(ANK2):c.8354C>T (p.Ser2785Leu) rs145895389 0.00170
NM_001267550.2(TTN):c.8902+14T>A rs13388274 0.00170
NM_001943.5(DSG2):c.45+16G>C rs199519502 0.00170
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly) rs143954823 0.00170
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_013266.4(CTNNA3):c.580-8C>T rs141983252 0.00170
NM_033118.4(MYLK2):c.1458T>C (p.Asp486=) rs111888319 0.00170
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=) rs56077602 0.00169
NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro) rs116750638 0.00169
NM_021098.3(CACNA1H):c.6195C>T (p.Ala2065=) rs375589233 0.00169
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_001366722.1(GRIP1):c.2283G>A (p.Ser761=) rs200863167 0.00168
NM_006929.5(SKIC2):c.3666G>A (p.Leu1222=) rs142860816 0.00168
NM_007078.3(LDB3):c.954C>T (p.Pro318=) rs45603139 0.00168
NM_000836.4(GRIN2D):c.2271C>T (p.Ile757=) rs144676582 0.00167
NM_001242896.3(DEPDC5):c.814G>A (p.Val272Ile) rs187334123 0.00167
NM_001384732.1(CPLANE1):c.8790C>T (p.Ser2930=) rs148005445 0.00167
NM_024685.4(BBS10):c.1669A>G (p.Ile557Val) rs139719799 0.00167
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380 0.00167
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00166
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00166
NM_000384.3(APOB):c.9105T>C (p.Asn3035=) rs147510760 0.00166
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546 0.00166
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) rs142841538 0.00166
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00166
NM_001379110.1(SLC9A6):c.1637G>A (p.Arg546Gln) rs146263125 0.00166
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln) rs72659383 0.00166
NM_006172.4(NPPA):c.190A>C (p.Ser64Arg) rs61757261 0.00165
NM_013266.4(CTNNA3):c.429T>C (p.Asp143=) rs111880127 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_000448.3(RAG1):c.725A>G (p.Gln242Arg) rs76897604 0.00164
NM_002661.5(PLCG2):c.987G>A (p.Thr329=) rs200506549 0.00164
NM_003978.5(PSTPIP1):c.1143C>T (p.Ser381=) rs141227274 0.00164
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671 0.00164
NM_020754.4(ARHGAP31):c.349-7T>G rs200397968 0.00164
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00164
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623 0.00163
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879 0.00163
NM_000138.5(FBN1):c.2420-8T>C rs140582 0.00163
NM_001144967.3(NEDD4L):c.2613C>T (p.Asn871=) rs141136641 0.00163
NM_001482.3(GATM):c.669T>C (p.Tyr223=) rs151231277 0.00163
NM_001715.3(BLK):c.711C>T (p.Pro237=) rs143699141 0.00163
NM_002471.4(MYH6):c.2928+5G>A rs28730772 0.00163
NM_014476.6(PDLIM3):c.60C>A (p.Gly20=) rs113792127 0.00163
NM_080911.3(UNG):c.533+6G>A rs55812333 0.00163
NM_198253.3(TERT):c.1574-16G>C rs79698601 0.00163
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600 0.00162
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318 0.00162
NM_001009944.3(PKD1):c.6297G>T (p.Gly2099=) rs137925121 0.00162
NM_001159699.2(FHL1):c.489C>T (p.Asp163=) rs149670651 0.00162
NM_018979.4(WNK1):c.6150T>C (p.Leu2050=) rs151331381 0.00162
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083 0.00162
NM_001113491.2(SEPTIN9):c.1752G>A (p.Pro584=) rs367775215 0.00161
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr) rs144668626 0.00161
NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly) rs61751570 0.00161
NM_001382567.1(STIM1):c.1664C>T (p.Ser555Phe) rs141215990 0.00161
NM_004006.3(DMD):c.1483-7C>G rs112463388 0.00161
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile) rs149871493 0.00161
NM_000718.4(CACNA1B):c.6095C>G (p.Thr2032Ser) rs201940970 0.00160
NM_001037.5(SCN1B):c.448+321G>A rs72558028 0.00160
NM_001143992.2(WRAP53):c.1566G>A (p.Ala522=) rs148329158 0.00160
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_003200.5(TCF3):c.315G>A (p.Arg105=) rs144176765 0.00160
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln) rs149772470 0.00160
NM_006904.7(PRKDC):c.3315G>T (p.Val1105=) rs56047668 0.00160
NM_015909.4(NBAS):c.3928A>G (p.Thr1310Ala) rs35489395 0.00160
NM_018979.4(WNK1):c.1074C>T (p.Thr358=) rs72648621 0.00160
NM_022436.3(ABCG5):c.696C>T (p.Val232=) rs72796720 0.00160
NM_152424.4(AMER1):c.2651C>T (p.Pro884Leu) rs201092215 0.00160
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092 0.00159
NM_001130823.3(DNMT1):c.2117+13G>A rs112660071 0.00159
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met) rs145988230 0.00159
NM_001232.4(CASQ2):c.421-14G>A rs139281637 0.00159
NM_001943.5(DSG2):c.1652-12C>T rs140850369 0.00159
NM_002591.4(PCK1):c.413C>T (p.Thr138Ile) rs28359542 0.00159
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698 0.00159
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val) rs200250181 0.00159
NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala) rs200055351 0.00159
NM_032193.4(RNASEH2C):c.468G>T (p.Ala156=) rs61736590 0.00159
NM_152743.4(BRAT1):c.2208G>T (p.Leu736=) rs61753093 0.00159
NM_173689.7(CRB2):c.3128C>T (p.Ser1043Phe) rs35578485 0.00159
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000383.4(AIRE):c.1567-5C>T rs192215705 0.00158
NM_000497.4(CYP11B1):c.1014G>A (p.Gln338=) rs151335623 0.00158
NM_001035.3(RYR2):c.4605G>A (p.Pro1535=) rs201916326 0.00158
NM_001077415.3(CRELD1):c.1249A>G (p.Ile417Val) rs115361983 0.00158
NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly) rs141190850 0.00158
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639 0.00158
NM_152468.5(TMC8):c.1364G>A (p.Arg455Gln) rs151076155 0.00158
NM_170707.4(LMNA):c.1851C>T (p.Ala617=) rs143189394 0.00158
NM_000026.4(ADSL):c.1010+18A>G rs201019280 0.00157
NM_000439.5(PCSK1):c.1918A>G (p.Thr640Ala) rs139453594 0.00157
NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val) rs148337824 0.00157
NM_003000.3(SDHB):c.300T>C (p.Ser100=) rs11541235 0.00157
NM_018668.5(VPS33B):c.1166G>A (p.Arg389Gln) rs145070485 0.00157
NM_020919.4(ALS2):c.1816-8C>T rs185911369 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_001035.3(RYR2):c.14756+12C>T rs2275693 0.00156
NM_001077350.3(NPRL3):c.447C>T (p.Ile149=) rs367592989 0.00156
NM_001110556.2(FLNA):c.1429+8C>T rs202181557 0.00156
NM_001142864.4(PIEZO1):c.5728G>A (p.Glu1910Lys) rs200929552 0.00156
NM_001282225.2(ADA2):c.927G>A (p.Met309Ile) rs146597836 0.00156
NM_002838.5(PTPRC):c.3670G>A (p.Val1224Ile) rs150672767 0.00156
NM_005448.2(BMP15):c.581T>C (p.Phe194Ser) rs141218518 0.00156
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn) rs202196322 0.00156
NM_053025.4(MYLK):c.4289-4C>G rs376670657 0.00156
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=) rs145762491 0.00155
NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=) rs201941844 0.00155
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg) rs144494437 0.00155
NM_001370466.1(NOD2):c.2325G>T (p.Val775=) rs104895495 0.00155
NM_005045.4(RELN):c.4748-11T>C rs201494847 0.00155
NM_006767.4(LZTR1):c.1530C>T (p.His510=) rs190714197 0.00155
NM_016341.4(PLCE1):c.2076A>T (p.Thr692=) rs147203844 0.00155
NM_177965.4(CFAP418):c.528A>G (p.Thr176=) rs143748636 0.00155
NM_001003787.4(STRADA):c.135G>A (p.Ala45=) rs56163554 0.00154
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817 0.00154
NM_001267550.2(TTN):c.36676A>G (p.Lys12226Glu) rs200815663 0.00154
NM_001498.4(GCLC):c.1039G>A (p.Asp347Asn) rs80120302 0.00154
NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly) rs140534207 0.00154
NM_002910.6(RENBP):c.29A>G (p.Asp10Gly) rs138548063 0.00154
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter) rs147622517 0.00154
NM_032578.4(MYPN):c.1104C>T (p.Gly368=) rs144764983 0.00154
NM_032588.4(TRIM63):c.375C>T (p.His125=) rs144196126 0.00154
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=) rs118187988 0.00154
NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=) rs148852027 0.00153
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=) rs182505786 0.00153
NM_001458.5(FLNC):c.2389+12C>T rs370526829 0.00153
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217 0.00153
NM_004006.3(DMD):c.8571T>C (p.Thr2857=) rs72466570 0.00153
NM_053025.4(MYLK):c.4620-18G>A rs41305835 0.00153
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00152
NM_000618.5(IGF1):c.207G>A (p.Arg69=) rs147960415 0.00152
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774 0.00152
NM_001349253.2(SCN11A):c.2213C>T (p.Pro738Leu) rs140995438 0.00152
NM_001370298.3(FGD4):c.666A>T (p.Ala222=) rs139357821 0.00152
NM_001374736.1(DST):c.2350C>G (p.Pro784Ala) rs151271595 0.00152
NM_001999.4(FBN2):c.953-8T>G rs201818403 0.00152
NM_005591.4(MRE11):c.822T>C (p.Leu274=) rs137868143 0.00152
NM_015272.5(RPGRIP1L):c.2153-4G>C rs201380599 0.00152
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=) rs187311127 0.00152
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00151
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=) rs1805029 0.00151
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) rs181099904 0.00151
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) rs45617636 0.00151
NM_001267550.2(TTN):c.98267C>T (p.Thr32756Ile) rs199805060 0.00151
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val) rs184018403 0.00151
NM_003200.5(TCF3):c.750G>A (p.Pro250=) rs201703361 0.00151
NM_004260.4(RECQL4):c.615C>G (p.Pro205=) rs35639991 0.00151
NM_021167.5(GATAD1):c.762G>A (p.Gly254=) rs139637606 0.00151
NM_022098.4(XPNPEP3):c.590-8A>G rs143719656 0.00151
NM_001009944.3(PKD1):c.10325C>T (p.Ala3442Val) rs144593342 0.00150
NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=) rs145304925 0.00150
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_004006.3(DMD):c.2971G>C (p.Glu991Gln) rs72468667 0.00150
NM_032578.4(MYPN):c.1246-19G>A rs75739924 0.00150
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln) rs116952023 0.00150
NM_198525.3(KIF7):c.3514C>A (p.Arg1172=) rs138196132 0.00150
NM_201384.3(PLEC):c.3543C>T (p.Val1181=) rs202185399 0.00150
NM_000204.5(CFI):c.782G>A (p.Gly261Asp) rs112534524 0.00149
NM_000208.4(INSR):c.1080C>T (p.Cys360=) rs56066516 0.00149
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00149
NM_001386125.1(OBSCN):c.23303C>A (p.Pro7768His) rs201092597 0.00149
NM_004115.4(FGF14):c.636T>C (p.His212=) rs41281644 0.00149
NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His) rs147919567 0.00149
NM_017654.4(SAMD9):c.4102G>A (p.Glu1368Lys) rs138600971 0.00149
NM_031407.7(HUWE1):c.5091A>G (p.Gly1697=) rs149893977 0.00149
NM_031892.3(SH3KBP1):c.162+36464C>G rs138422588 0.00149
NM_152424.4(AMER1):c.401A>C (p.His134Pro) rs146489129 0.00149
NM_001005242.3(PKP2):c.2353G>A (p.Asp785Asn) rs151264959 0.00148
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser) rs148072630 0.00148
NM_004946.3(DOCK2):c.4201G>T (p.Ala1401Ser) rs143100569 0.00148
NM_025137.4(SPG11):c.4744-6T>C rs147550048 0.00148
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_000363.5(TNNI3):c.109-17C>A rs139150276 0.00147
NM_001037.5(SCN1B):c.448+29C>T rs186759145 0.00147
NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=) rs147066476 0.00147
NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu) rs189438534 0.00147
NM_002473.6(MYH9):c.5818G>A (p.Gly1940Arg) rs140588099 0.00147
NM_153033.5(KCTD7):c.384G>A (p.Glu128=) rs145238250 0.00147
NM_207361.6(FREM2):c.7323G>A (p.Ala2441=) rs147563277 0.00147
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_001035.3(RYR2):c.4596+12G>A rs148557427 0.00146
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=) rs189768015 0.00146
NM_002230.4(JUP):c.*21C>A rs41275669 0.00146
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009 0.00146
NM_005751.5(AKAP9):c.1536C>T (p.Leu512=) rs61757665 0.00146
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr) rs200037070 0.00145
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=) rs185574478 0.00145
NM_001365999.1(SZT2):c.9723G>A (p.Ala3241=) rs146635122 0.00145
NM_002471.4(MYH6):c.3927T>C (p.Ser1309=) rs115742584 0.00145
NM_003126.4(SPTA1):c.1982G>A (p.Arg661His) rs201845149 0.00145
NM_004360.5(CDH1):c.2440-6C>G rs139757930 0.00145
NM_004958.4(MTOR):c.1830C>T (p.Phe610=) rs139687094 0.00145
NM_005957.5(MTHFR):c.1761C>T (p.Ala587=) rs115049252 0.00145
NM_006509.4(RELB):c.1563C>T (p.Ala521=) rs199742203 0.00145
NM_014000.3(VCL):c.1907A>G (p.His636Arg) rs71579374 0.00145
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=) rs149898088 0.00145
NM_000393.5(COL5A2):c.1618-19C>G rs189970491 0.00144
NM_001009944.3(PKD1):c.2235C>G (p.Ala745=) rs533569454 0.00144
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly) rs560874115 0.00144
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=) rs138661755 0.00144
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln) rs121912280 0.00143
NM_001035.3(RYR2):c.9067+12C>T rs112365440 0.00143
NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=) rs186541002 0.00143
NM_001848.3(COL6A1):c.105C>G (p.Pro35=) rs145579577 0.00143
NM_004738.5(VAPB):c.510G>A (p.Met170Ile) rs143144050 0.00143
NM_024809.5(TCTN2):c.615C>T (p.Gly205=) rs147485641 0.00143
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met) rs145804755 0.00143
NM_201384.3(PLEC):c.11208G>A (p.Pro3736=) rs200273549 0.00143
NM_213720.3(CHCHD10):c.41+7G>A rs141526972 0.00143
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966 0.00142
NM_000064.4(C3):c.2901C>T (p.Leu967=) rs34029609 0.00142
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593 0.00142
NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys) rs61757671 0.00142
NM_153240.5(NPHP3):c.449C>T (p.Ala150Val) rs142663818 0.00142
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=) rs2229919 0.00141
NM_001127255.2(NLRP7):c.2095G>A (p.Val699Ile) rs77072552 0.00141
NM_001267550.2(TTN):c.32593G>C (p.Val10865Leu) rs150733188 0.00141
NM_001358263.1(HK1):c.75+16T>C rs372162023 0.00141
NM_001385012.1(NBEA):c.7746G>A (p.Pro2582=) rs146396146 0.00141
NM_002471.4(MYH6):c.5400C>T (p.Asp1800=) rs144329079 0.00141
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688 0.00141
NM_004281.4(BAG3):c.549C>G (p.Ser183=) rs112929734 0.00141
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln) rs115961753 0.00141
NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile) rs35967690 0.00141
NM_007118.4(TRIO):c.34G>A (p.Ala12Thr) rs1045136451 0.00141
NM_015967.8(PTPN22):c.197-4A>G rs72650669 0.00141
NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met) rs150516342 0.00141
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_032119.4(ADGRV1):c.11378-20G>A rs190125624 0.00141
NM_032802.4(SPPL2A):c.1554C>G (p.Val518=) rs146593203 0.00141
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr) rs117502839 0.00141
NM_138927.4(SON):c.1664C>T (p.Thr555Met) rs13049658 0.00141
NM_173689.7(CRB2):c.3204C>T (p.Asp1068=) rs377347664 0.00141
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128 0.00140
NM_000540.3(RYR1):c.2919C>T (p.His973=) rs139363830 0.00140
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325 0.00140
NM_001009944.3(PKD1):c.1202C>T (p.Ala401Val) rs139917246 0.00140
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu) rs72646845 0.00140
NM_001711.6(BGN):c.111C>T (p.Asn37=) rs145819764 0.00140
NM_002591.4(PCK1):c.1642G>A (p.Ala548Thr) rs148684857 0.00140
NM_006096.4(NDRG1):c.31G>A (p.Ala11Thr) rs145871479 0.00140
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483 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_020822.3(KCNT1):c.3390G>A (p.Ala1130=) rs77912754 0.00140
NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=) rs113938044 0.00140
NM_144573.4(NEXN):c.864+12T>A rs188416492 0.00140
NM_000188.3(HK1):c.2610-13T>A rs140249926 0.00139
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642 0.00139
NM_002471.4(MYH6):c.3979-15C>A rs529249069 0.00139
NM_002474.3(MYH11):c.4578+3A>G rs143288748 0.00139
NM_002693.3(POLG):c.1890C>T (p.Asn630=) rs148658588 0.00139
NM_005223.4(DNASE1):c.567C>T (p.Gly189=) rs8175352 0.00139
NM_012079.6(DGAT1):c.1407C>T (p.Val469=) rs17851331 0.00139
NM_014254.3(RXYLT1):c.252C>T (p.Ser84=) rs141095352 0.00139
NM_032119.4(ADGRV1):c.1086A>G (p.Leu362=) rs186639101 0.00139
NM_207361.6(FREM2):c.5642-9T>C rs148794835 0.00139
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_001165963.4(SCN1A):c.68C>T (p.Ala23Val) rs139397227 0.00138
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=) rs202185465 0.00138
NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln) rs34932223 0.00138
NM_001723.7(DST):c.7135G>A (p.Ala2379Thr) rs140192373 0.00138
NM_014476.6(PDLIM3):c.993C>A (p.Gly331=) rs139493914 0.00138
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_145046.5(CALR3):c.848C>T (p.Thr283Ile) rs75099211 0.00138
NM_000059.4(BRCA2):c.631+43G>T rs276174869 0.00137
NM_000379.4(XDH):c.1868C>T (p.Thr623Ile) rs45448694 0.00137
NM_001013838.3(CARMIL2):c.2286C>T (p.Ala762=) rs201745158 0.00137
NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=) rs145322467 0.00137
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_001999.4(FBN2):c.2555-7A>G rs28763949 0.00137
NM_003047.5(SLC9A1):c.1821G>A (p.Gln607=) rs139314838 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_006766.5(KAT6A):c.4952C>T (p.Pro1651Leu) rs144417514 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=) rs183447491 0.00137
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715 0.00137
NM_153460.4(IL17RC):c.823-4C>T rs200220568 0.00137
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042 0.00136
NM_001330078.2(NRXN1):c.501C>G (p.Leu167=) rs200248561 0.00136
NM_001458.5(FLNC):c.2501C>T (p.Thr834Met) rs75133741 0.00136
NM_002292.4(LAMB2):c.3645G>A (p.Ala1215=) rs13082063 0.00136
NM_004100.5(EYA4):c.783G>A (p.Thr261=) rs17854076 0.00136
NM_007078.3(LDB3):c.1422G>A (p.Ser474=) rs142625982 0.00136
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945 0.00135
NM_000760.4(CSF3R):c.1410G>A (p.Ala470=) rs3917988 0.00135
NM_001082486.2(ACD):c.80G>A (p.Arg27Gln) rs142507451 0.00135
NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys) rs138153075 0.00135
NM_007315.4(STAT1):c.1222-5T>C rs191364028 0.00135
NM_014639.4(SKIC3):c.1392C>T (p.Tyr464=) rs142058280 0.00135
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) rs201148948 0.00134
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300 0.00134
NM_001267550.2(TTN):c.10104T>G (p.Val3368=) rs142460433 0.00134
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg) rs201158906 0.00134
NM_001377.3(DYNC2H1):c.12566+17A>G rs187787132 0.00134
NM_001999.4(FBN2):c.8364+7A>T rs185052980 0.00134
NM_005957.5(MTHFR):c.708C>T (p.Phe236=) rs34279942 0.00134
NM_012134.3(LMOD1):c.139G>T (p.Val47Leu) rs200871425 0.00134
NM_024027.5(COLEC11):c.432C>T (p.Ala144=) rs141691492 0.00134
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00133
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr) rs139956524 0.00133
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_001145252.3(CFP):c.895G>A (p.Asp299Asn) rs61737993 0.00133
NM_001267550.2(TTN):c.17183-9T>C rs141687561 0.00133
NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val) rs72650030 0.00133
NM_001267550.2(TTN):c.61029T>C (p.Phe20343=) rs6706088 0.00133
NM_002133.3(HMOX1):c.330C>T (p.Ala110=) rs150515195 0.00133
NM_002772.3(TMPRSS15):c.1608A>G (p.Thr536=) rs147743156 0.00133
NM_004415.4(DSP):c.6678T>A (p.Gly2226=) rs149070106 0.00133
NM_015175.3(NBEAL2):c.3338C>T (p.Thr1113Met) rs202071400 0.00133
NM_020822.3(KCNT1):c.435-17G>A rs140115987 0.00133
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=) rs35379711 0.00133
NM_201384.3(PLEC):c.9333G>A (p.Gly3111=) rs188739870 0.00133
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr) rs142614369 0.00132
NM_001111.5(ADAR):c.1926T>C (p.His642=) rs150171059 0.00132
NM_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014 0.00132
NM_002473.6(MYH9):c.5323A>G (p.Lys1775Glu) rs145139708 0.00132
NM_003737.4(DCHS1):c.1493G>A (p.Arg498Gln) rs150834672 0.00132
NM_019066.5(MAGEL2):c.1304C>T (p.Pro435Leu) rs2233062 0.00132
NM_024570.4(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326 0.00132
NM_000433.4(NCF2):c.1184G>A (p.Arg395Gln) rs145229115 0.00131
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=) rs16009 0.00131
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=) rs147831309 0.00131
NM_001382391.1(CSPP1):c.3493C>T (p.Pro1165Ser) rs200161440 0.00131
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136 0.00131
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889 0.00130
NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr) rs2229560 0.00130
NM_013266.4(CTNNA3):c.1453A>T (p.Thr485Ser) rs140913916 0.00130
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130 0.00130
NM_144596.4(TTC8):c.1077C>T (p.Asn359=) rs150896551 0.00130
NM_000091.5(COL4A3):c.3627G>A (p.Met1209Ile) rs200562865 0.00129
NM_000186.4(CFH):c.1707C>T (p.Cys569=) rs144976181 0.00129
NM_006306.4(SMC1A):c.1545+4A>C rs377270943 0.00129
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met) rs139872089 0.00129
NM_000176.3(NR3C1):c.685G>A (p.Ala229Thr) rs72542742 0.00128
NM_000371.4(TTR):c.360C>T (p.Ser120=) rs150127220 0.00128
NM_001009944.3(PKD1):c.8364G>A (p.Ser2788=) rs145176597 0.00128
NM_001267550.2(TTN):c.1002C>T (p.Thr334=) rs148094198 0.00128
NM_001267550.2(TTN):c.36285C>T (p.His12095=) rs201184203 0.00128
NM_001770.6(CD19):c.1580-4C>A rs148808609 0.00128
NM_004655.4(AXIN2):c.1807G>C (p.Ala603Pro) rs145353986 0.00128
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837 0.00128
NM_007254.4(PNKP):c.831G>A (p.Thr277=) rs148491228 0.00128
NM_014845.6(FIG4):c.446+9G>A rs190287033 0.00128
NM_016373.4(WWOX):c.1035G>A (p.Ala345=) rs189695070 0.00128
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) rs117587497 0.00128
NM_032588.4(TRIM63):c.143C>T (p.Ala48Val) rs140523053 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_000631.5(NCF4):c.271+7G>A rs201881905 0.00127
NM_001110556.2(FLNA):c.6023-10C>G rs72616474 0.00127
NM_001291303.3(FAT4):c.10107A>G (p.Glu3369=) rs147646369 0.00127
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=) rs79392371 0.00127
NM_001364905.1(LRBA):c.3948A>G (p.Gln1316=) rs35154927 0.00127
NM_001458.5(FLNC):c.1813+11G>T rs138716837 0.00127
NM_001458.5(FLNC):c.4947C>T (p.Gly1649=) rs201069454 0.00127
NM_002025.4(AFF2):c.2656C>G (p.Pro886Ala) rs151043891 0.00127
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00127
NM_153460.4(IL17RC):c.977C>T (p.Ala326Val) rs11719981 0.00127
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln) rs148849567 0.00126
NM_001386795.1(DTNA):c.604-14G>T rs397517447 0.00126
NM_002693.3(POLG):c.1585+11T>C rs201566815 0.00126
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val) rs147810437 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_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000059.4(BRCA2):c.632-69T>C rs61948377 0.00125
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_000439.5(PCSK1):c.1197-9C>T rs200973203 0.00125
NM_001267550.2(TTN):c.24195C>T (p.Ser8065=) rs182425565 0.00125
NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys) rs201797790 0.00125
NM_001353921.2(ARHGEF9):c.49A>G (p.Ile17Val) rs55868891 0.00125
NM_001365276.2(TNXB):c.9314G>A (p.Arg3105Gln) rs202113575 0.00125
NM_001458.5(FLNC):c.597C>T (p.Ala199=) rs143942649 0.00125
NM_002471.4(MYH6):c.4782G>A (p.Arg1594=) rs142823394 0.00125
NM_004369.4(COL6A3):c.489G>A (p.Ala163=) rs148970984 0.00125
NM_007078.3(LDB3):c.689+10G>A rs45563234 0.00125
NM_021141.4(XRCC5):c.1020C>T (p.Phe340=) rs61762971 0.00125
NM_057176.3(BSND):c.189C>T (p.Val63=) rs144505461 0.00125
NM_133379.5(TTN):c.14214C>T (p.Thr4738=) rs147513899 0.00125
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562 0.00124
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) rs145644275 0.00124
NM_006567.5(FARS2):c.606G>A (p.Lys202=) rs17851782 0.00124
NM_012448.4(STAT5B):c.376-15C>G rs201981865 0.00124
NM_020436.5(SALL4):c.1557C>T (p.Pro519=) rs75554760 0.00124
NM_001009944.3(PKD1):c.10400C>T (p.Ala3467Val) rs144590217 0.00123
NM_001101426.4(CRPPA):c.790-14T>C rs142414812 0.00123
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00123
NM_001382347.1(MYO5A):c.2067C>G (p.Thr689=) rs111806567 0.00123
NM_003239.5(TGFB3):c.744C>A (p.Ile248=) rs145726361 0.00123
NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=) rs143792929 0.00123
NM_005045.4(RELN):c.3123C>T (p.Gly1041=) rs41276148 0.00123
NM_012232.6(CAVIN1):c.540G>A (p.Glu180=) rs143511306 0.00123
NM_022437.3(ABCG8):c.1785C>T (p.Phe595=) rs139677898 0.00123
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
NM_000044.6(AR):c.1424C>T (p.Ala475Val) rs200390780 0.00122
NM_001009944.3(PKD1):c.11717G>T (p.Cys3906Phe) rs369291413 0.00122
NM_003179.3(SYP):c.877G>A (p.Gly293Ser) rs139475570 0.00122
NM_005068.3(SIM1):c.383T>C (p.Ile128Thr) rs138546433 0.00122
NM_006389.5(HYOU1):c.2029G>A (p.Val677Ile) rs147081612 0.00122
NM_018082.6(POLR3B):c.1873T>C (p.Leu625=) rs139376910 0.00122
NM_018489.3(ASH1L):c.3319A>G (p.Ile1107Val) rs140137038 0.00122
NM_000631.5(NCF4):c.478G>A (p.Val160Met) rs150103256 0.00121
NM_001005498.4(RHBDF2):c.2064+7A>G rs201734337 0.00121
NM_001061.7(TBXAS1):c.1394G>A (p.Arg465Gln) rs41311778 0.00121
NM_001378969.1(KCND3):c.117T>C (p.Asp39=) rs12720446 0.00121
NM_001550.4(IFRD1):c.568-10T>A rs565300368 0.00121
NM_004517.4(ILK):c.631C>T (p.Arg211Cys) rs140322345 0.00121
NM_005120.3(MED12):c.5400+6C>T rs192656109 0.00121
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_014629.4(ARHGEF10):c.2921+5G>C rs112954668 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_032043.3(BRIP1):c.918+15T>A rs117820198 0.00121
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00121
NM_001009944.3(PKD1):c.1281G>A (p.Ala427=) rs141553109 0.00120
NM_001199138.2(NLRC4):c.2740T>C (p.Leu914=) rs34716166 0.00120
NM_001201550.3(CFHR4):c.983C>T (p.Thr328Ile) rs200497324 0.00120
NM_001330360.2(POLA1):c.4185C>T (p.Tyr1395=) rs61756363 0.00120
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met) rs148123045 0.00120
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920 0.00120
NM_006642.5(SDCCAG8):c.279G>A (p.Pro93=) rs145877279 0.00120
NM_033118.4(MYLK2):c.1584G>A (p.Arg528=) rs55807353 0.00120
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260 0.00119
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His) rs200971254 0.00119
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile) rs150860808 0.00119
NM_001378452.1(ITPR1):c.4843-8C>T rs41304179 0.00119
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=) rs183390773 0.00119
NM_002473.6(MYH9):c.1158C>T (p.Thr386=) rs138502859 0.00119
NM_004525.3(LRP2):c.391A>G (p.Arg131Gly) rs34592807 0.00119
NM_004615.4(TSPAN7):c.515C>A (p.Pro172His) rs104894951 0.00119
NM_005391.5(PDK3):c.376A>G (p.Met126Val) rs138321172 0.00119
NM_018668.5(VPS33B):c.357G>A (p.Lys119=) rs146758743 0.00119
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu) rs141493373 0.00118
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841 0.00118
NM_000335.5(SCN5A):c.4297-14T>C rs56104887 0.00117
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=) rs193922628 0.00117
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595 0.00117
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys) rs72648939 0.00117
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln) rs200212521 0.00117
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=) rs72648255 0.00117
NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys) rs138771398 0.00117
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387 0.00117
NM_003665.4(FCN3):c.498G>C (p.Glu166Asp) rs56405086 0.00117
NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala) rs150672943 0.00117
NM_006267.5(RANBP2):c.7172C>G (p.Thr2391Ser) rs2433786 0.00117
NM_006736.6(DNAJB2):c.195C>T (p.Tyr65=) rs116719245 0.00117
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) rs144334281 0.00117
NM_022114.4(PRDM16):c.3621A>T (p.Glu1207Asp) rs199972068 0.00117
NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu) rs144455277 0.00117
NM_033004.4(NLRP1):c.923G>A (p.Arg308Gln) rs140628502 0.00117
NM_201384.3(PLEC):c.12784G>A (p.Val4262Ile) rs142946078 0.00117
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00116
NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val) rs2227871 0.00116
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) rs143523271 0.00116
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328 0.00116
NM_000878.5(IL2RB):c.126C>T (p.Ala42=) rs148800183 0.00116
NM_001005361.3(DNM2):c.1218C>T (p.Asp406=) rs147668465 0.00116
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_001199138.2(NLRC4):c.2614+12A>T rs187140134 0.00116
NM_001492.6(GDF1):c.55C>G (p.Leu19Val) rs370986101 0.00116
NM_002471.4(MYH6):c.1122G>A (p.Ala374=) rs148091079 0.00116
NM_002838.5(PTPRC):c.782G>T (p.Gly261Val) rs142941257 0.00116
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00116
NM_005120.3(MED12):c.5748+16G>T rs199760183 0.00116
NM_005477.3(HCN4):c.1356C>T (p.Ser452=) rs148453034 0.00116
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln) rs150712805 0.00116
NM_182914.3(SYNE2):c.19248C>G (p.Pro6416=) rs150363140 0.00116
NM_000151.4(G6PC1):c.340+10C>A rs368450665 0.00115
NM_000337.6(SGCD):c.213G>A (p.Arg71=) rs74846539 0.00115
NM_001037.5(SCN1B):c.351C>T (p.Gly117=) rs3746255 0.00115
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu) rs138004884 0.00115
NM_000285.4(PEPD):c.967+20G>C rs376640051 0.00114
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) rs145296488 0.00114
NM_002473.6(MYH9):c.705+11C>T rs201738304 0.00114
NM_025099.6(CTC1):c.147C>T (p.Val49=) rs201492796 0.00114
NM_145046.5(CALR3):c.398-6T>C rs376479901 0.00114
NM_001282933.2(ZNF341):c.2148C>T (p.Cys716=) rs61734271 0.00113
NM_001365999.1(SZT2):c.2955C>T (p.Cys985=) rs151189395 0.00113
NM_001379081.2(FREM1):c.6258C>T (p.Tyr2086=) rs187325866 0.00113
NM_002471.4(MYH6):c.4906C>T (p.Arg1636Cys) rs149460065 0.00113
NM_003954.5(MAP3K14):c.326+10G>A rs372339711 0.00113
NM_004006.3(DMD):c.1513G>C (p.Val505Leu) rs140340626 0.00113
NM_007126.5(VCP):c.1081+17C>T rs200756991 0.00113
NM_020631.6(PLEKHG5):c.994C>T (p.Arg332Trp) rs140202670 0.00113
NM_020964.3(EPG5):c.800C>T (p.Ser267Leu) rs180913079 0.00113
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) rs116998555 0.00113
NM_031885.5(BBS2):c.865A>G (p.Ile289Val) rs150384293 0.00113
NM_145046.5(CALR3):c.125A>G (p.Asn42Ser) rs149634686 0.00113
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00112
NM_001105206.3(LAMA4):c.4665+8G>T rs184220860 0.00112
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) rs41292592 0.00112
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) rs149082597 0.00112
NM_002473.6(MYH9):c.2448C>T (p.Cys816=) rs113285582 0.00112
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) rs148262378 0.00112
NM_004646.4(NPHS1):c.658T>G (p.Ser220Ala) rs115333628 0.00112
NM_005026.5(PIK3CD):c.2919C>T (p.Leu973=) rs143168081 0.00112
NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=) rs185998087 0.00112
NM_022369.4(STRA6):c.1685-5C>G rs201730717 0.00112
NM_000540.3(RYR1):c.725+6G>A rs201679831 0.00111
NM_001009944.3(PKD1):c.9924-11C>T rs201154266 0.00111
NM_001458.5(FLNC):c.4581-5T>A rs368660628 0.00111
NM_001458.5(FLNC):c.6309C>T (p.Thr2103=) rs376992044 0.00111
NM_002474.3(MYH11):c.57C>T (p.Asn19=) rs148464745 0.00111
NM_002661.5(PLCG2):c.1671G>A (p.Lys557=) rs372347274 0.00111
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00111
NM_014476.6(PDLIM3):c.387G>A (p.Pro129=) rs138670107 0.00111
NM_005751.5(AKAP9):c.6249C>T (p.Phe2083=) rs139770404 0.00110
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys) rs140383655 0.00110
NM_147686.4(TRAF3IP2):c.281G>A (p.Ser94Asn) rs61756667 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_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743 0.00109
NM_001365999.1(SZT2):c.3309+9C>T rs140366288 0.00109
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00109
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu) rs201065230 0.00109
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=) rs45439097 0.00109
NM_000379.4(XDH):c.822G>A (p.Leu274=) rs113345553 0.00108
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) rs113811959 0.00108
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721 0.00108
NM_001130823.3(DNMT1):c.493+8C>T rs138998574 0.00108
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile) rs183130427 0.00108
NM_001378452.1(ITPR1):c.4254G>T (p.Val1418=) rs142527379 0.00108
NM_002471.4(MYH6):c.2430-14C>T rs190342289 0.00108
NM_006254.4(PRKCD):c.603C>T (p.Ile201=) rs75794462 0.00108
NM_006267.5(RANBP2):c.9369+4G>A rs139387463 0.00108
NM_006772.3(SYNGAP1):c.3134C>G (p.Ala1045Gly) rs139759084 0.00108
NM_017909.4(RMND1):c.1209T>C (p.Asn403=) rs75177593 0.00108
NM_000124.4(ERCC6):c.3456T>G (p.Gly1152=) rs148366188 0.00107
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_000395.3(CSF2RB):c.1503G>A (p.Ser501=) rs145912937 0.00107
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln) rs184394424 0.00107
NM_001943.5(DSG2):c.2703A>G (p.Lys901=) rs113591687 0.00107
NM_006267.5(RANBP2):c.783-6T>C rs138540027 0.00107
NM_006950.3(SYN1):c.1107C>T (p.Ile369=) rs150248483 0.00107
NM_017534.6(MYH2):c.4774C>A (p.Leu1592Met) rs138393827 0.00107
NM_025219.3(DNAJC5):c.107+10C>T rs181906972 0.00107
NM_000054.7(AVPR2):c.1017G>A (p.Leu339=) rs149557877 0.00106
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_000611.6(CD59):c.150G>A (p.Ala50=) rs149071679 0.00106
NM_001103.4(ACTN2):c.1383C>T (p.Ile461=) rs34827377 0.00106
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00106
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339 0.00106
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile) rs4870093 0.00106
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu) rs144968313 0.00106
NM_001009944.3(PKD1):c.580G>A (p.Ala194Thr) rs769369111 0.00105
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764 0.00105
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=) rs114725374 0.00105
NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met) rs146567178 0.00105
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro) rs138760432 0.00105
NM_001384732.1(CPLANE1):c.5928G>A (p.Gly1976=) rs34161326 0.00104
NM_001927.4(DES):c.18G>A (p.Ser6=) rs199972656 0.00104
NM_020779.4(WDR35):c.770T>C (p.Val257Ala) rs142955097 0.00104
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val) rs139306706 0.00104
NM_000489.6(ATRX):c.846C>T (p.Ser282=) rs148015780 0.00103
NM_001042432.2(CLN3):c.768C>T (p.Thr256=) rs145967477 0.00103
NM_015662.3(IFT172):c.3530+7T>C rs150882197 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_198252.3(GSN):c.1225G>A (p.Val409Met) rs140042418 0.00103
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=) rs147961615 0.00102
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) rs61736827 0.00102
NM_000170.3(GLDC):c.498T>C (p.Pro166=) rs150193069 0.00102
NM_000501.4(ELN):c.212C>T (p.Ala71Val) rs41350445 0.00102
NM_001009944.3(PKD1):c.2192C>T (p.Pro731Leu) rs979342927 0.00102
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=) rs76048624 0.00102
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val) rs55634791 0.00102
NM_001365276.2(TNXB):c.9663G>A (p.Val3221=) rs2242569 0.00102
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066 0.00102
NM_001458.5(FLNC):c.5766G>A (p.Ala1922=) rs58914363 0.00102
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00102
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649 0.00102
NM_006096.4(NDRG1):c.789G>A (p.Ser263=) rs61755062 0.00102
NM_006516.4(SLC2A1):c.507C>T (p.Leu169=) rs115541691 0.00102
NM_015910.7(WDPCP):c.76-15T>A rs200557033 0.00102
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=) rs137925439 0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000216.4(ANOS1):c.1532C>A (p.Ser511Tyr) rs142729431 0.00101
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125 0.00101
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_001029896.2(WDR45):c.351C>T (p.Ile117=) rs140596058 0.00101
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=) rs72646852 0.00101
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala) rs56137800 0.00101
NM_004960.4(FUS):c.1566G>A (p.Arg522=) rs138901914 0.00101
NM_005751.5(AKAP9):c.9358+11T>C rs199714035 0.00101
NM_006279.5(ST3GAL3):c.118+10G>C rs147330005 0.00101
NM_014467.3(SRPX2):c.481C>A (p.Arg161=) rs150552508 0.00101
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=) rs147295026 0.00101
NM_000100.4(CSTB):c.121G>A (p.Val41Met) rs143153487 0.00100
NM_000444.6(PHEX):c.118+7G>T rs534550003 0.00100
NM_004984.4(KIF5A):c.2418G>A (p.Thr806=) rs113155897 0.00100
NM_022114.4(PRDM16):c.3570G>A (p.Pro1190=) rs541512137 0.00100
NM_153240.5(NPHP3):c.105G>A (p.Lys35=) rs377060857 0.00100
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=) rs148700620 0.00099
NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala) rs150682764 0.00099
NM_001385012.1(NBEA):c.7767C>T (p.His2589=) rs139508021 0.00099
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala) rs3027884 0.00099
NM_020433.5(JPH2):c.1971G>A (p.Glu657=) rs142333841 0.00099
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005 0.00098
NM_001113491.2(SEPTIN9):c.710G>A (p.Arg237Gln) rs200031107 0.00098
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793 0.00098
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=) rs147318592 0.00098
NM_002972.4(SBF1):c.3765C>T (p.Tyr1255=) rs201985055 0.00098
NM_005045.4(RELN):c.474-7T>C rs55693709 0.00098
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_013266.4(CTNNA3):c.844-15G>A rs201089736 0.00098
NM_015570.4(AUTS2):c.385C>G (p.Leu129Val) rs145480547 0.00098
NM_205836.3(FBXO38):c.3019C>A (p.Gln1007Lys) rs112383068 0.00098
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=) rs144122893 0.00097
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=) rs371480338 0.00097
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=) rs72646867 0.00097
NM_002582.4(PARN):c.1263-8T>G rs182460499 0.00097
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val) rs34656239 0.00097
NM_006258.4(PRKG1):c.1071A>G (p.Lys357=) rs75650199 0.00097
NM_201596.3(CACNB2):c.1560T>C (p.Pro520=) rs150280879 0.00097
NM_000059.4(BRCA2):c.9648+84G>A rs81002832 0.00096
NM_000091.5(COL4A3):c.222G>T (p.Pro74=) rs187950806 0.00096
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=) rs146402942 0.00096
NM_001267550.2(TTN):c.107961T>C (p.His35987=) rs377439315 0.00096
NM_001605.3(AARS1):c.1332G>A (p.Glu444=) rs150442667 0.00096
NM_004387.4(NKX2-5):c.606G>C (p.Leu202=) rs3729753 0.00096
NM_006231.4(POLE):c.1360-6C>T rs139836643 0.00096
NM_018979.4(WNK1):c.2206A>G (p.Ile736Val) rs147099510 0.00096
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr) rs200334298 0.00096
NM_020822.3(KCNT1):c.2994G>A (p.Leu998=) rs143198263 0.00096
NM_021098.3(CACNA1H):c.1824G>A (p.Leu608=) rs57260464 0.00096
NM_021625.5(TRPV4):c.854-4G>A rs371733585 0.00096
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp) rs145643238 0.00096
NM_032578.4(MYPN):c.1460-14T>A rs201156035 0.00096
NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met) rs146492238 0.00096
NM_000027.4(AGA):c.762C>T (p.Ala254=) rs145465919 0.00095
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336 0.00095
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117 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_031407.7(HUWE1):c.3663G>A (p.Ser1221=) rs142126065 0.00095
NM_138927.4(SON):c.4399A>G (p.Ile1467Val) rs142751481 0.00095
NM_207361.6(FREM2):c.5417G>A (p.Gly1806Asp) rs145208009 0.00095
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile) rs61750604 0.00094
NM_001128840.3(CACNA1D):c.5496C>T (p.Gly1832=) rs149746093 0.00094
NM_001735.3(C5):c.3029C>T (p.Ala1010Val) rs34362143 0.00094
NM_014000.3(VCL):c.660C>T (p.Asn220=) rs56264452 0.00094
NM_022437.3(ABCG8):c.1941C>G (p.Val647=) rs147991100 0.00094
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu) rs146170087 0.00094
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033 0.00094
NM_138382.3(RIPPLY1):c.362A>G (p.Asn121Ser) rs41306259 0.00094
NM_182914.3(SYNE2):c.12572G>A (p.Gly4191Asp) rs145227848 0.00094
NM_001267550.2(TTN):c.1246-16G>A rs72647847 0.00093
NM_001282933.2(ZNF341):c.1640A>G (p.Asn547Ser) rs147329875 0.00093
NM_001365999.1(SZT2):c.8702C>T (p.Pro2901Leu) rs139027171 0.00093
NM_002471.4(MYH6):c.735+16C>T rs76202841 0.00093
NM_002968.3(SALL1):c.411C>T (p.Ser137=) rs151051011 0.00093
NM_006070.6(TFG):c.258G>T (p.Leu86=) rs150620449 0.00093
NM_020964.3(EPG5):c.214G>A (p.Ala72Thr) rs201067154 0.00093
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00092
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139 0.00092
NM_001164508.2(NEB):c.16637G>A (p.Arg5546His) rs201111610 0.00092
NM_001379081.2(FREM1):c.3147C>T (p.Ser1049=) rs200894045 0.00092
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) rs200663107 0.00092
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476 0.00092
NM_024334.3(TMEM43):c.392+16G>A rs150859949 0.00092
NM_032578.4(MYPN):c.3792C>T (p.Tyr1264=) rs142307556 0.00092
NM_173689.7(CRB2):c.516C>T (p.Cys172=) rs146687164 0.00092
NM_203447.4(DOCK8):c.580G>A (p.Val194Ile) rs141210649 0.00092
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362 0.00091
NM_000297.4(PKD2):c.1830G>A (p.Ala610=) rs144968710 0.00091
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) rs200092211 0.00091
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=) rs61754107 0.00091
NM_182961.4(SYNE1):c.6826-6A>G rs183683592 0.00091
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00090
NM_000246.4(CIITA):c.691C>T (p.Pro231Ser) rs147472574 0.00090
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln) rs138842207 0.00090
NM_001458.5(FLNC):c.5418G>A (p.Ser1806=) rs376078394 0.00090
NM_014915.3(ANKRD26):c.542C>T (p.Thr181Ile) rs191015656 0.00090
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=) rs148848282 0.00090
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030 0.00089
NM_000335.5(SCN5A):c.856G>T (p.Ala286Ser) rs61746118 0.00089
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val) rs148496347 0.00089
NM_001099922.3(ALG13):c.3414A>C (p.Ter1138Tyr) rs201820102 0.00089
NM_001197104.2(KMT2A):c.10850T>C (p.Leu3617Pro) rs146191865 0.00089
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601 0.00089
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00089
NM_001365951.3(KIF1B):c.2115+6581G>A rs41274460 0.00089
NM_015662.3(IFT172):c.1433A>T (p.Asn478Ile) rs143491198 0.00089
NM_021076.4(NEFH):c.883+16G>A rs534281794 0.00089
NM_033163.5(FGF8):c.582G>A (p.Thr194=) rs147342890 0.00089
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=) rs149260051 0.00089
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His) rs36215251 0.00089
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala) rs45491005 0.00088
NM_001291303.3(FAT4):c.14940A>G (p.Glu4980=) rs149073729 0.00088
NM_020822.3(KCNT1):c.1134C>T (p.Val378=) rs149960236 0.00088
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val) rs41308297 0.00088
NM_032578.4(MYPN):c.2880T>G (p.Ser960=) rs146028308 0.00088
NM_138927.4(SON):c.3012T>C (p.Ala1004=) rs148794591 0.00088
NM_138927.4(SON):c.4851A>G (p.Ala1617=) rs146914239 0.00088
NM_139058.3(ARX):c.802G>T (p.Val268Leu) rs587783141 0.00088
NM_170707.4(LMNA):c.640-52C>T rs41314033 0.00088
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991 0.00087
NM_003238.6(TGFB2):c.114G>A (p.Glu38=) rs149215818 0.00087
NM_017491.5(WDR1):c.507C>T (p.Asn169=) rs370876028 0.00087
NM_000071.3(CBS):c.52C>T (p.Arg18Cys) rs201827340 0.00086
NM_000304.4(PMP22):c.79-6C>T rs201682989 0.00086
NM_000593.6(TAP1):c.465C>T (p.His155=) rs56016563 0.00086
NM_001037.5(SCN1B):c.5+7C>T rs28365106 0.00086
NM_001103.4(ACTN2):c.1864G>A (p.Asp622Asn) rs138452803 0.00086
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00086
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met) rs201437752 0.00086
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00086
NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser) rs151234321 0.00086
NM_016203.4(PRKAG2):c.1584+7C>T rs111627309 0.00086
NM_030912.3(TRIM8):c.270G>A (p.Leu90=) rs375705231 0.00086
NM_000208.4(INSR):c.2970G>A (p.Pro990=) rs41304772 0.00085
NM_000426.4(LAMA2):c.9211+6T>C rs201375881 0.00085
NM_001009944.3(PKD1):c.6078C>T (p.Val2026=) rs147253810 0.00085
NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val) rs77300588 0.00085
NM_004646.4(NPHS1):c.803G>A (p.Arg268Gln) rs115308424 0.00085
NM_025074.7(FRAS1):c.4095C>T (p.Ile1365=) rs79869130 0.00085
NM_001734.5(C1S):c.1326C>T (p.Ser442=) rs148573885 0.00084
NM_004655.4(AXIN2):c.1985T>C (p.Leu662Pro) rs142476324 0.00084
NM_004958.4(MTOR):c.3630T>C (p.Asp1210=) rs377751542 0.00084
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00084
NM_001290043.2(TAP2):c.1462-7T>C rs201974007 0.00083
NM_001374736.1(DST):c.5059-17C>G rs190803185 0.00083
NM_001458.5(FLNC):c.7947C>T (p.Phe2649=) rs368849358 0.00083
NM_001735.3(C5):c.989T>C (p.Ile330Thr) rs147430470 0.00083
NM_002471.4(MYH6):c.1083G>T (p.Gly361=) rs138928022 0.00083
NM_004415.4(DSP):c.741G>A (p.Ala247=) rs2806234 0.00083
NM_015909.4(NBAS):c.5440T>C (p.Leu1814=) rs141034921 0.00083
NM_019066.5(MAGEL2):c.2281G>C (p.Ala761Pro) rs146970674 0.00083
NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly) rs143342988 0.00083
NM_031471.6(FERMT3):c.1188G>A (p.Gln396=) rs148021416 0.00083
NM_053025.4(MYLK):c.3832-6C>T rs185681684 0.00083
NM_139276.3(STAT3):c.1329C>T (p.Thr443=) rs147955721 0.00083
NM_145046.5(CALR3):c.245A>G (p.Lys82Arg) rs142951029 0.00083
NM_000092.5(COL4A4):c.195T>C (p.Gly65=) rs201278620 0.00082
NM_000257.4(MYH7):c.1395C>T (p.Phe465=) rs45508293 0.00082
NM_000276.4(OCRL):c.40-5C>T rs201211377 0.00082
NM_000789.4(ACE):c.45G>C (p.Pro15=) rs1110991 0.00082
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) rs56173891 0.00082
NM_004517.4(ILK):c.65A>G (p.Asn22Ser) rs114115159 0.00082
NM_007078.3(LDB3):c.466G>A (p.Ala156Thr) rs200596619 0.00082
NM_032119.4(ADGRV1):c.18803-13A>G rs41305902 0.00082
NM_152468.5(TMC8):c.1168G>A (p.Val390Ile) rs150546646 0.00082
NM_182914.3(SYNE2):c.12673C>T (p.Pro4225Ser) rs149296737 0.00082
NM_000282.4(PCCA):c.2040+11dup rs779884567 0.00081
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463 0.00081
NM_000878.5(IL2RB):c.1152C>T (p.Tyr384=) rs146986731 0.00081
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012 0.00081
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090 0.00081
NM_005548.3(KARS1):c.612A>G (p.Thr204=) rs141539149 0.00081
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala) rs145758265 0.00081
NM_001009944.3(PKD1):c.2039A>T (p.Tyr680Phe) rs370141157 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_002471.4(MYH6):c.3978+8C>T rs367866050 0.00080
NM_014629.4(ARHGEF10):c.401C>T (p.Ala134Val) rs151080025 0.00080
NM_016532.4(INPP5K):c.693G>A (p.Pro231=) rs151311702 0.00080
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=) rs371831553 0.00080
NM_176869.3(PPA2):c.222+4T>A rs200307466 0.00080
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser) rs149636614 0.00079
NM_000051.4(ATM):c.3517T>C (p.Leu1173=) rs141460670 0.00079
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00079
NM_000540.3(RYR1):c.10119G>A (p.Val3373=) rs140689610 0.00079
NM_001032221.6(STXBP1):c.1702+10C>T rs147607230 0.00079
NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys) rs201905890 0.00079
NM_002471.4(MYH6):c.4986G>A (p.Ala1662=) rs77416370 0.00079
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048 0.00079
NM_017777.4(MKS1):c.27C>T (p.Asp9=) rs369488349 0.00079
NM_207361.6(FREM2):c.7590C>T (p.Gly2530=) rs200338297 0.00079
NM_001134363.3(RBM20):c.1179C>T (p.Pro393=) rs200588338 0.00078
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met) rs141353229 0.00078
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298 0.00078
NM_001918.5(DBT):c.327C>T (p.Thr109=) rs138796800 0.00078
NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=) rs201760315 0.00078
NM_002693.3(POLG):c.2853C>T (p.Tyr951=) rs41546712 0.00078
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) rs376049260 0.00078
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr) rs150317197 0.00078
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_000122.2(ERCC3):c.618C>T (p.Ala206=) rs145830873 0.00077
NM_001199138.2(NLRC4):c.478G>A (p.Ala160Thr) rs113631419 0.00077
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His) rs34700927 0.00077
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) rs202017608 0.00077
NM_001458.5(FLNC):c.7990+9C>T rs566679569 0.00077
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971 0.00077
NM_004958.4(MTOR):c.2070G>A (p.Ala690=) rs55752564 0.00077
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006 0.00077
NM_031407.7(HUWE1):c.10707T>C (p.Phe3569=) rs150358853 0.00077
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met) rs71534280 0.00077
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr) rs113962905 0.00077
NM_000335.5(SCN5A):c.2437-13C>T rs45455099 0.00076
NM_001077365.2(POMT1):c.986+9A>G rs202095070 0.00076
NM_001243133.2(NLRP3):c.930C>T (p.Asp310=) rs143840033 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_002667.5(PLN):c.-56C>T rs189611501 0.00076
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00076
NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653 0.00076
NM_004974.4(KCNA2):c.213C>T (p.Pro71=) rs116111724 0.00076
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848 0.00076
NM_016122.3(CEP83):c.1151A>G (p.Lys384Arg) rs185058802 0.00076
NM_031157.4(HNRNPA1):c.546A>G (p.Ser182=) rs200707918 0.00076
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser) rs60662302 0.00076
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_000117.3(EMD):c.495G>A (p.Thr165=) rs151074632 0.00075
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=) rs201509188 0.00075
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=) rs201155967 0.00075
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys) rs191482653 0.00075
NM_002637.4(PHKA1):c.3523A>G (p.Met1175Val) rs201573707 0.00075
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00075
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00075
NM_138694.4(PKHD1):c.7912-5T>G rs371510537 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000257.4(MYH7):c.261C>T (p.Ile87=) rs148560996 0.00074
NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=) rs143269044 0.00074
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=) rs2303834 0.00074
NM_005188.4(CBL):c.1641T>C (p.Pro547=) rs61755280 0.00074
NM_005245.4(FAT1):c.2734G>A (p.Val912Ile) rs200097846 0.00074
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn) rs148424288 0.00074
NM_022369.4(STRA6):c.357C>T (p.Pro119=) rs139775570 0.00074
NM_000238.4(KCNH2):c.51C>G (p.Thr17=) rs144338227 0.00073
NM_000501.4(ELN):c.1232T>G (p.Val411Gly) rs200180992 0.00073
NM_001035.3(RYR2):c.1134C>T (p.Asp378=) rs193922621 0.00073
NM_001167.4(XIAP):c.769C>G (p.Pro257Ala) rs138783302 0.00073
NM_001370466.1(NOD2):c.2506A>G (p.Met836Val) rs104895447 0.00073
NM_003640.5(ELP1):c.3347-15A>G rs200154542 0.00073
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981 0.00073
NM_018896.5(CACNA1G):c.1646G>C (p.Gly549Ala) rs527691624 0.00073
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe) rs200059077 0.00073
NM_000051.4(ATM):c.7928-10T>C rs188404773 0.00072
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00072
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00072
NM_000481.4(AMT):c.354G>A (p.Leu118=) rs145194293 0.00072
NM_001005242.3(PKP2):c.1171-10T>C rs200122872 0.00072
NM_001097577.3(ANG):c.208A>G (p.Ile70Val) rs121909541 0.00072
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) rs200835571 0.00072
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00072
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871 0.00072
NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln) rs149641783 0.00072
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp) rs138081804 0.00072
NM_004100.5(EYA4):c.277+9G>A rs145320803 0.00072
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=) rs149185385 0.00072
NM_019066.5(MAGEL2):c.2290G>A (p.Ala764Thr) rs201984254 0.00072
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=) rs139436386 0.00072
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) rs370890951 0.00071
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) rs200048692 0.00071
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val) rs200728466 0.00071
NM_006231.4(POLE):c.6004+11A>G rs201591857 0.00071
NM_000551.4(VHL):c.150C>G (p.Ala50=) rs61751580 0.00070
NM_001113491.2(SEPTIN9):c.914-4C>T rs199809734 0.00070
NM_001164508.2(NEB):c.7581C>T (p.Tyr2527=) rs200425929 0.00070
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr) rs72648263 0.00070
NM_001320752.2(STS):c.1124G>C (p.Gly375Ala) rs145886038 0.00070
NM_001365951.3(KIF1B):c.2874C>T (p.Asp958=) rs150831576 0.00070
NM_001378454.1(ALMS1):c.3942A>C (p.Ser1314=) rs186449817 0.00070
NM_001943.5(DSG2):c.216+16G>A rs200239610 0.00070
NM_006904.7(PRKDC):c.4009G>A (p.Val1337Ile) rs56080897 0.00070
NM_014339.7(IL17RA):c.833G>A (p.Arg278His) rs141467790 0.00070
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=) rs73668312 0.00070
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys) rs145619906 0.00070
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937 0.00070
NM_025074.7(FRAS1):c.6939C>T (p.Pro2313=) rs150936204 0.00070
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042 0.00070
NM_138927.4(SON):c.5964T>C (p.Pro1988=) rs139304331 0.00070
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr) rs138039591 0.00069
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) rs146839867 0.00069
NM_001009944.3(PKD1):c.8200C>A (p.Pro2734Thr) rs150568356 0.00069
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134 0.00069
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764 0.00069
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=) rs184319249 0.00069
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) rs200173934 0.00069
NM_003183.6(ADAM17):c.435C>G (p.Ala145=) rs143124556 0.00069
NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=) rs574196735 0.00069
NM_000138.5(FBN1):c.5296+14G>A rs140650 0.00068
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn) rs140562402 0.00068
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288 0.00068
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704 0.00068
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00068
NM_001363118.2(SLC52A2):c.1039G>A (p.Val347Met) rs145502954 0.00068
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00068
NM_006267.5(RANBP2):c.3226T>G (p.Leu1076Val) rs142768885 0.00068
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=) rs78388808 0.00068
NM_024782.3(NHEJ1):c.560A>G (p.Asn187Ser) rs146861504 0.00068
NM_031471.6(FERMT3):c.615C>T (p.Pro205=) rs142774418 0.00068
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly) rs147545395 0.00068
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519 0.00067
NM_001276345.2(TNNT2):c.98-81G>A rs45576939 0.00067
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00067
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153 0.00067
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829 0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_000088.4(COL1A1):c.3099+7T>C rs201682029 0.00066
NM_001035.3(RYR2):c.1110A>G (p.Leu370=) rs150705689 0.00066
NM_001077415.3(CRELD1):c.1049-299C>G rs41276501 0.00066
NM_001103.4(ACTN2):c.2649G>A (p.Ala883=) rs146426213 0.00066
NM_001103.4(ACTN2):c.546T>C (p.Asp182=) rs34263845 0.00066
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202 0.00066
NM_001375405.1(CEP120):c.1671G>A (p.Leu557=) rs75289011 0.00066
NM_001558.4(IL10RA):c.1235G>A (p.Arg412Gln) rs117423374 0.00066
NM_001943.5(DSG2):c.1911C>T (p.Cys637=) rs201654341 0.00066
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760 0.00066
NM_003680.4(YARS1):c.1015G>A (p.Ala339Thr) rs141323599 0.00066
NM_004187.5(KDM5C):c.4303C>T (p.Arg1435Cys) rs140506776 0.00066
NM_006922.4(SCN3A):c.5658C>T (p.Val1886=) rs141161490 0.00066
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_000363.5(TNNI3):c.25-4C>T rs202086705 0.00065
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=) rs148795690 0.00065
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=) rs372260338 0.00065
NM_001110556.2(FLNA):c.3756G>A (p.Ala1252=) rs186619828 0.00065
NM_001142864.4(PIEZO1):c.1495G>A (p.Val499Ile) rs530486445 0.00065
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00065
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027 0.00065
NM_001267550.2(TTN):c.40927+16C>T rs369965589 0.00065
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly) rs201390755 0.00065
NM_005751.5(AKAP9):c.10254G>C (p.Gln3418His) rs61757663 0.00065
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_000335.5(SCN5A):c.630G>A (p.Val210=) rs193922727 0.00064
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) rs1805031 0.00064
NM_001105206.3(LAMA4):c.3943G>A (p.Val1315Ile) rs70940811 0.00064
NM_004260.4(RECQL4):c.1621-8A>G rs373357384 0.00064
NM_007126.5(VCP):c.1584C>T (p.Ala528=) rs147623367 0.00064
NM_012186.3(FOXE3):c.929G>A (p.Gly310Asp) rs571095192 0.00064
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) rs141033098 0.00064
NM_018941.4(CLN8):c.546G>A (p.Ala182=) rs144047076 0.00064
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=) rs138388301 0.00064
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln) rs117647282 0.00064
NM_001111.5(ADAR):c.3018C>T (p.Asn1006=) rs151241634 0.00063
NM_001242896.3(DEPDC5):c.3567A>G (p.Thr1189=) rs142197878 0.00063
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=) rs72646848 0.00063
NM_001267550.2(TTN):c.6790+12C>T rs200187117 0.00063
NM_003900.5(SQSTM1):c.924G>A (p.Ala308=) rs139482113 0.00063
NM_004172.5(SLC1A3):c.15T>C (p.Asn5=) rs143791614 0.00063
NM_004172.5(SLC1A3):c.320-7C>T rs200867287 0.00063
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00063
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) rs138817389 0.00063
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037 0.00063
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln) rs142415050 0.00063
NM_032782.5(HAVCR2):c.776G>A (p.Arg259His) rs138681649 0.00063
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp) rs147202164 0.00063
NM_080647.1(TBX1):c.-39C>T rs72646950 0.00063
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_182919.4(TICAM1):c.238G>A (p.Val80Met) rs199816697 0.00063
NM_201596.3(CACNB2):c.209G>A (p.Arg70His) rs150722502 0.00063
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114 0.00062
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275 0.00062
NM_000268.4(NF2):c.1113C>T (p.Asn371=) rs142459414 0.00062
NM_001558.4(IL10RA):c.1072G>A (p.Asp358Asn) rs78753252 0.00062
NM_002474.3(MYH11):c.4578+19T>C rs118072250 0.00062
NM_003482.4(KMT2D):c.3373C>T (p.Leu1125=) rs190643171 0.00062
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_019066.5(MAGEL2):c.919C>T (p.Pro307Ser) rs555920534 0.00062
NM_152274.5(CCNQ):c.627C>T (p.Ala209=) rs139186601 0.00062
NM_153240.5(NPHP3):c.2769C>T (p.Phe923=) rs116174472 0.00062
NM_000088.4(COL1A1):c.1461+13G>T rs371161009 0.00061
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253 0.00061
NM_000257.4(MYH7):c.1230C>T (p.Tyr410=) rs150885220 0.00061
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys) rs144425830 0.00061
NM_001009944.3(PKD1):c.3430G>A (p.Val1144Ile) rs140991712 0.00061
NM_001122681.2(SH3BP2):c.441G>A (p.Ser147=) rs145235325 0.00061
NM_001126108.2(SLC12A3):c.36C>T (p.Asp12=) rs117987946 0.00061
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241 0.00061
NM_001267550.2(TTN):c.39211+6C>T rs187365142 0.00061
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala) rs200771189 0.00061
NM_001267550.2(TTN):c.9703+17T>A rs377693857 0.00061
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile) rs149346064 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_002474.3(MYH11):c.2049C>T (p.His683=) rs150924100 0.00061
NM_005591.4(MRE11):c.120C>T (p.Leu40=) rs1805364 0.00061
NM_005751.5(AKAP9):c.5246T>C (p.Ile1749Thr) rs150016098 0.00061
NM_005883.3(APC2):c.4557G>A (p.Pro1519=) rs111280997 0.00061
NM_014363.6(SACS):c.12813T>G (p.Pro4271=) rs146376949 0.00061
NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=) rs374146357 0.00061
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600 0.00061
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) rs138749562 0.00061
NM_024422.6(DSC2):c.2498G>A (p.Arg833His) rs370325533 0.00061
NM_025074.7(FRAS1):c.9827T>C (p.Val3276Ala) rs78006948 0.00061
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe) rs200816323 0.00061
NM_177924.5(ASAH1):c.382+10A>G rs201735910 0.00061
NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu) rs146490788 0.00061
NM_203447.4(DOCK8):c.5962-8C>T rs749575443 0.00061
NM_000054.7(AVPR2):c.1055G>A (p.Gly352Asp) rs146350208 0.00060
NM_001082486.2(ACD):c.22G>A (p.Val8Ile) rs149365469 0.00060
NM_001105206.3(LAMA4):c.1035G>A (p.Thr345=) rs147069572 0.00060
NM_001105206.3(LAMA4):c.196-15G>C rs371906362 0.00060
NM_001111125.3(IQSEC2):c.2508G>A (p.Ala836=) rs2274308 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_001458.5(FLNC):c.7545C>T (p.Leu2515=) rs369791058 0.00060
NM_002180.3(IGHMBP2):c.1290C>T (p.Tyr430=) rs140654955 0.00060
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_012301.4(MAGI2):c.3706+5G>A rs188293910 0.00060
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335 0.00060
NM_024675.4(PALB2):c.2996+17T>C rs180177128 0.00060
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=) rs142106322 0.00060
NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr) rs200115167 0.00060
NM_000206.3(IL2RG):c.325G>A (p.Glu109Lys) rs17875899 0.00059
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076 0.00059
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641 0.00059
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517 0.00059
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) rs77705198 0.00059
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) rs199690076 0.00059
NM_001197104.2(KMT2A):c.7183T>C (p.Ser2395Pro) rs142985138 0.00059
NM_001267550.2(TTN):c.78147A>G (p.Gln26049=) rs149127072 0.00059
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=) rs202150325 0.00059
NM_002471.4(MYH6):c.5652C>T (p.Ala1884=) rs200662317 0.00059
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00059
NM_133379.5(TTN):c.10920T>C (p.Ser3640=) rs142585268 0.00059
NM_000022.4(ADA):c.606+10G>A rs201045221 0.00058
NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp) rs147589613 0.00058
NM_000540.3(RYR1):c.8616+7G>A rs200023171 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_001099922.3(ALG13):c.2796A>T (p.Pro932=) rs748742452 0.00058
NM_001377405.1(ATXN7):c.1012+13T>A rs183496477 0.00058
NM_001394962.1(KIAA1210):c.3347T>C (p.Leu1116Pro) rs200015496 0.00058
NM_006950.3(SYN1):c.1615G>A (p.Gly539Ser) rs794727076 0.00058
NM_013382.7(POMT2):c.1701C>G (p.Pro567=) rs151051452 0.00058
NM_015631.6(TCTN3):c.889-8G>A rs374331871 0.00058
NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln) rs147596628 0.00058
NM_032578.4(MYPN):c.1236C>A (p.Thr412=) rs151220474 0.00058
NM_080424.4(SP110):c.1591-9C>T rs202101309 0.00058
NM_175914.5(HNF4A):c.427-20C>T rs184217112 0.00058
NM_000142.5(FGFR3):c.1671C>T (p.Tyr557=) rs370408732 0.00057
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys) rs376283361 0.00057
NM_001110556.2(FLNA):c.7756+8A>G rs201663443 0.00057
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_002474.3(MYH11):c.12G>A (p.Lys4=) rs112650390 0.00057
NM_005245.4(FAT1):c.1146C>A (p.Pro382=) rs371822287 0.00057
NM_018896.5(CACNA1G):c.3024C>T (p.Pro1008=) rs60632394 0.00057
NM_182972.3(IRF2BP2):c.453G>C (p.Pro151=) rs567164754 0.00057
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00056
NM_000234.3(LIG1):c.108-5T>C rs200668350 0.00056
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg) rs199676994 0.00056
NM_001080512.3(BICC1):c.637A>G (p.Ile213Val) rs550455235 0.00056
NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=) rs201488545 0.00056
NM_001130438.3(SPTAN1):c.7161-9C>T rs187613754 0.00056
NM_001267550.2(TTN):c.296-14T>C rs199951296 0.00056
NM_001267550.2(TTN):c.77205G>A (p.Val25735=) rs55857909 0.00056
NM_001572.5(IRF7):c.739G>A (p.Gly247Arg) rs201379782 0.00056
NM_001743.6(CALM2):c.243C>T (p.Asp81=) rs141298844 0.00056
NM_002474.3(MYH11):c.429G>A (p.Lys143=) rs200672270 0.00056
NM_002691.4(POLD1):c.883G>A (p.Val295Met) rs199545019 0.00056
NM_002693.3(POLG):c.1275C>T (p.Ala425=) rs147404477 0.00056
NM_002693.3(POLG):c.798G>T (p.Val266=) rs143631183 0.00056
NM_005477.3(HCN4):c.2739G>A (p.Ala913=) rs373411041 0.00056
NM_005629.4(SLC6A8):c.777+4C>T rs201581661 0.00056
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp) rs117173425 0.00056
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506 0.00056
NM_032578.4(MYPN):c.1935C>T (p.Pro645=) rs71535754 0.00056
NM_201378.4(PLEC):c.71-11923G>A rs200842821 0.00056
NM_000393.5(COL5A2):c.3471+8A>T rs367643805 0.00055
NM_001134407.3(GRIN2A):c.3190A>G (p.Thr1064Ala) rs138809301 0.00055
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys) rs72646859 0.00055
NM_001943.5(DSG2):c.1914A>G (p.Gly638=) rs200395484 0.00055
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595 0.00055
NM_007315.4(STAT1):c.1263+7G>A rs56228116 0.00055
NM_013266.4(CTNNA3):c.1929C>T (p.His643=) rs147760277 0.00055
NM_014639.4(SKIC3):c.3341+9A>G rs376170264 0.00055
NM_015922.3(NSDHL):c.356G>A (p.Arg119Lys) rs200930841 0.00055
NM_016203.4(PRKAG2):c.1106+9G>C rs200429988 0.00055
NM_133459.4(CCBE1):c.519A>G (p.Thr173=) rs141327514 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_001018005.2(TPM1):c.*68A>G rs374459540 0.00054
NM_001103.4(ACTN2):c.1452G>A (p.Gln484=) rs200529923 0.00054
NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=) rs200258756 0.00054
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 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_006516.4(SLC2A1):c.276-7T>C rs369273744 0.00054
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449 0.00054
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys) rs199587998 0.00054
NM_000090.4(COL3A1):c.114C>G (p.Ser38=) rs141241764 0.00053
NM_000335.5(SCN5A):c.895T>A (p.Leu299Met) rs199473087 0.00053
NM_000417.3(IL2RA):c.711A>G (p.Thr237=) rs11256354 0.00053
NM_001035.3(RYR2):c.1548T>C (p.Asp516=) rs146129084 0.00053
NM_001458.5(FLNC):c.2125G>A (p.Ala709Thr) rs192725607 0.00053
NM_002303.6(LEPR):c.3019A>T (p.Ser1007Cys) rs145651189 0.00053
NM_003042.4(SLC6A1):c.846C>T (p.Ser282=) rs139315755 0.00053
NM_006904.7(PRKDC):c.11337C>T (p.Ser3779=) rs55789637 0.00053
NM_017553.3(INO80):c.2998C>T (p.Arg1000Cys) rs149600837 0.00053
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_182961.4(SYNE1):c.2395G>A (p.Val799Ile) rs199670962 0.00053
NM_000215.4(JAK3):c.2152G>C (p.Val718Leu) rs146837396 0.00052
NM_000540.3(RYR1):c.2091C>T (p.Ala697=) rs138704724 0.00052
NM_001018004.2(TPM1):c.775A>G (p.Lys259Glu) rs144045691 0.00052
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) rs376810671 0.00052
NM_002470.4(MYH3):c.3731C>T (p.Ala1244Val) rs140074626 0.00052
NM_002693.3(POLG):c.678G>C (p.Gln226His) rs147282197 0.00052
NM_006258.4(PRKG1):c.1963-16T>G rs376174664 0.00052
NM_031885.5(BBS2):c.472-10T>C rs138714256 0.00052
NM_145239.3(PRRT2):c.439G>C (p.Asp147His) rs79568162 0.00052
NM_182914.3(SYNE2):c.4912T>C (p.Tyr1638His) rs146801942 0.00052
NM_201384.3(PLEC):c.8040C>T (p.Asp2680=) rs373341589 0.00052
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_000057.4(BLM):c.465T>C (p.Asp155=) rs185349681 0.00051
NM_000250.2(MPO):c.518A>G (p.Tyr173Cys) rs78950939 0.00051
NM_001105206.3(LAMA4):c.2655C>T (p.Leu885=) rs35772073 0.00051
NM_001458.5(FLNC):c.3757G>A (p.Val1253Ile) rs117366477 0.00051
NM_002667.5(PLN):c.27C>T (p.Arg9=) rs145623013 0.00051
NM_003384.3(VRK1):c.375-8G>C rs191021502 0.00051
NM_004946.3(DOCK2):c.979+6G>A rs200237259 0.00051
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly) rs141619382 0.00051
NM_014000.3(VCL):c.2521G>C (p.Asp841His) rs150385900 0.00051
NM_014629.4(ARHGEF10):c.2063G>A (p.Ser688Asn) rs143290224 0.00051
NM_015046.7(SETX):c.7914C>T (p.Phe2638=) rs80296256 0.00051
NM_020297.4(ABCC9):c.372T>C (p.Asn124=) rs377384557 0.00051
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val) rs56217500 0.00051
NM_024408.4(NOTCH2):c.1567+8C>T rs372367275 0.00051
NM_025074.7(FRAS1):c.11306A>G (p.Asn3769Ser) rs112039037 0.00051
NM_144969.3(ZDHHC15):c.831G>C (p.Lys277Asn) rs145401990 0.00051
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00050
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882 0.00050
NM_001065.4(TNFRSF1A):c.1075C>T (p.Leu359=) rs151344628 0.00050
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00050
NM_001330260.2(SCN8A):c.1470A>G (p.Glu490=) rs187115247 0.00050
NM_002025.4(AFF2):c.3693C>T (p.Gly1231=) rs140356860 0.00050
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=) rs112861184 0.00050
NM_003000.3(SDHB):c.21C>T (p.Leu7=) rs147815442 0.00050
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00050
NM_007126.5(VCP):c.*4G>T rs201091341 0.00050
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) rs200699325 0.00050
NM_015046.7(SETX):c.3336T>C (p.Ala1112=) rs150687078 0.00050
NM_000218.3(KCNQ1):c.984C>T (p.Ile328=) rs140019543 0.00049
NM_001379200.1(TBX1):c.540-8C>T rs72646960 0.00049
NM_003978.5(PSTPIP1):c.1151A>G (p.Asp384Gly) rs200771233 0.00049
NM_004407.4(DMP1):c.1107C>T (p.Asp369=) rs147451774 0.00049
NM_181486.4(TBX5):c.827G>A (p.Ser276Asn) rs147977741 0.00049
NM_000059.4(BRCA2):c.631+25C>T rs367871824 0.00048
NM_000186.4(CFH):c.285T>C (p.Thr95=) rs148182625 0.00048
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00048
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys) rs3729712 0.00048
NM_001032221.6(STXBP1):c.326-8A>G rs180716154 0.00048
NM_001035.3(RYR2):c.10231-4T>C rs117180147 0.00048
NM_001103.4(ACTN2):c.927C>T (p.Pro309=) rs145411160 0.00048
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512 0.00048
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876 0.00048
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His) rs201512527 0.00048
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) rs180975448 0.00048
NM_001291415.2(KDM6A):c.1558T>C (p.Cys520Arg) rs138723332 0.00048
NM_001376.5(DYNC1H1):c.345-10T>G rs202110844 0.00048
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633 0.00048
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=) rs201804323 0.00048
NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu) rs150033906 0.00048
NM_004415.4(DSP):c.1574+14G>T rs200443042 0.00048
NM_004484.4(GPC3):c.660C>T (p.Ser220=) rs138450923 0.00048
NM_004517.4(ILK):c.619-6C>T rs149710421 0.00048
NM_005529.7(HSPG2):c.7337C>T (p.Ser2446Leu) rs146950983 0.00048
NM_006397.3(RNASEH2A):c.662A>G (p.Lys221Arg) rs143534021 0.00048
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg) rs554853074 0.00048
NM_024334.3(TMEM43):c.705+7G>A rs201916031 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=) rs183674012 0.00048
NM_170707.4(LMNA):c.1911C>T (p.Phe637=) rs117939448 0.00048
NM_000059.4(BRCA2):c.9649-19G>A rs11571830 0.00047
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 0.00047
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=) rs373721253 0.00047
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00047
NM_005120.3(MED12):c.2613G>A (p.Gln871=) rs372344160 0.00047
NM_007254.4(PNKP):c.188C>T (p.Ala63Val) rs3739173 0.00047
NM_019842.4(KCNQ5):c.1689A>G (p.Arg563=) rs116950019 0.00047
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser) rs148174226 0.00047
NM_025074.7(FRAS1):c.5725G>A (p.Val1909Ile) rs182652779 0.00047
NM_033337.3(CAV3):c.276C>T (p.Phe92=) rs72546669 0.00047
NM_177972.3(TUB):c.1386C>T (p.Asp462=) rs151125191 0.00047
NM_000059.4(BRCA2):c.7976+45G>C rs11571718 0.00046
NM_000081.4(LYST):c.143A>G (p.His48Arg) rs200132460 0.00046
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249 0.00046
NM_000489.6(ATRX):c.4120+4A>C rs200420513 0.00046
NM_001105206.3(LAMA4):c.5344C>T (p.Arg1782Cys) rs145897390 0.00046
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=) rs146979083 0.00046
NM_001134363.3(RBM20):c.1659G>A (p.Ser553=) rs375626512 0.00046
NM_001148.6(ANK2):c.231G>A (p.Val77=) rs149699185 0.00046
NM_001174147.2(LMX1B):c.140-4A>G rs368126014 0.00046
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly) rs147946775 0.00046
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile) rs200650668 0.00046
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=) rs139789997 0.00046
NM_001572.5(IRF7):c.392G>A (p.Arg131Gln) rs201036875 0.00046
NM_001999.4(FBN2):c.5674+7A>G rs367877964 0.00046
NM_002163.4(IRF8):c.982T>G (p.Phe328Val) rs202046728 0.00046
NM_004168.4(SDHA):c.723C>T (p.Asp241=) rs146653693 0.00046
NM_004356.4(CD81):c.288C>T (p.Thr96=) rs202086417 0.00046
NM_005045.4(RELN):c.5530-18A>G rs188302870 0.00046
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=) rs568801926 0.00046
NM_001023570.4(IQCB1):c.782T>G (p.Leu261Arg) rs199959360 0.00045
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=) rs373282364 0.00045
NM_001042432.2(CLN3):c.831G>A (p.Val277=) rs1142183 0.00045
NM_001110792.2(MECP2):c.870C>T (p.Ala290=) rs61750248 0.00045
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=) rs72648918 0.00045
NM_001365276.2(TNXB):c.1302C>G (p.Ala434=) rs767040315 0.00045
NM_001458.5(FLNC):c.3966C>T (p.Gly1322=) rs200237564 0.00045
NM_002471.4(MYH6):c.1141+8G>T rs377327277 0.00045
NM_004006.3(DMD):c.2457A>C (p.Leu819=) rs72468680 0.00045
NM_004172.5(SLC1A3):c.648T>C (p.Asn216=) rs139342707 0.00045
NM_006888.6(CALM1):c.303C>T (p.Ile101=) rs143503733 0.00045
NM_015346.4(ZFYVE26):c.5260G>A (p.Ala1754Thr) rs146968463 0.00045
NM_020774.4(MIB1):c.2586+17A>G rs370642266 0.00045
NM_053025.4(MYLK):c.999G>A (p.Pro333=) rs13319347 0.00045
NM_133379.5(TTN):c.16328T>C (p.Val5443Ala) rs145183384 0.00045
NM_170665.4(ATP2A2):c.3064A>G (p.Ile1022Val) rs140234740 0.00045
NM_000059.4(BRCA2):c.198A>G (p.Gln66=) rs28897700 0.00044
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_000230.3(LEP):c.15C>G (p.Thr5=) rs142904532 0.00044
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=) rs147797612 0.00044
NM_001303256.3(MORC2):c.1499-9T>C rs201213165 0.00044
NM_001845.6(COL4A1):c.708C>G (p.Val236=) rs139523466 0.00044
NM_007254.4(PNKP):c.672C>T (p.Arg224=) rs151180981 0.00044
NM_014314.4(RIGI):c.9C>T (p.Thr3=) rs142058831 0.00044
NM_015158.5(KANK1):c.565G>A (p.Gly189Ser) rs200751333 0.00044
NM_020433.5(JPH2):c.1380G>A (p.Ala460=) rs531877510 0.00044
NM_024101.7(MLPH):c.487G>A (p.Asp163Asn) rs3751108 0.00044
NM_172107.4(KCNQ2):c.2529C>T (p.Ser843=) rs140674819 0.00044
NM_176869.3(PPA2):c.683C>T (p.Pro228Leu) rs138215926 0.00044
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00043
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=) rs80359810 0.00043
NM_000186.4(CFH):c.3178G>C (p.Val1060Leu) rs55771831 0.00043
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=) rs150269172 0.00043
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322 0.00043
NM_001267550.2(TTN):c.13969A>C (p.Asn4657His) rs200204761 0.00043
NM_001270508.2(TNFAIP3):c.2231G>A (p.Gly744Asp) rs150355046 0.00043
NM_002303.6(LEPR):c.1246C>T (p.His416Tyr) rs144710810 0.00043
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=) rs143048583 0.00043
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala) rs529916753 0.00043
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser) rs140170914 0.00043
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00042
NM_000256.3(MYBPC3):c.926+8C>T rs377595584 0.00042
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670 0.00042
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380 0.00042
NM_001018005.2(TPM1):c.375-3C>T rs202228866 0.00042
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=) rs373606009 0.00042
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) rs188185141 0.00042
NM_001267550.2(TTN):c.72105T>C (p.Phe24035=) rs397517691 0.00042
NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=) rs199550149 0.00042
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser) rs185661462 0.00042
NM_007294.4(BRCA1):c.-20+11C>T rs273898672 0.00042
NM_153240.5(NPHP3):c.393+18C>T rs367765709 0.00042
NM_198253.3(TERT):c.1138C>T (p.Pro380Ser) rs144756946 0.00042
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=) rs370346797 0.00041
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser) rs147420365 0.00041
NM_001110556.2(FLNA):c.3207+14G>A rs200710010 0.00041
NM_001148.6(ANK2):c.7488A>G (p.Thr2496=) rs143161930 0.00041
NM_001164277.2(SLC37A4):c.1240C>T (p.Leu414=) rs200703321 0.00041
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) rs201257644 0.00041
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys) rs200144345 0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_001374353.1(GLI2):c.2034G>A (p.Thr678=) rs139298853 0.00041
NM_001379286.1(ZNF423):c.100+8C>T rs148101280 0.00041
NM_002087.4(GRN):c.903G>A (p.Ser301=) rs63750142 0.00041
NM_002471.4(MYH6):c.643-5C>T rs199859986 0.00041
NM_003664.5(AP3B1):c.3207G>A (p.Gln1069=) rs34089426 0.00041
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_005245.4(FAT1):c.10194C>T (p.Leu3398=) rs373756658 0.00041
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr) rs201404751 0.00041
NM_005660.3(SLC35A2):c.30C>G (p.Thr10=) rs373480204 0.00041
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) rs121918363 0.00041
NM_015335.5(MED13L):c.4691C>T (p.Pro1564Leu) rs112709561 0.00041
NM_015922.3(NSDHL):c.678C>T (p.Phe226=) rs147293409 0.00041
NM_000093.5(COL5A1):c.126C>T (p.Leu42=) rs149369116 0.00040
NM_000238.4(KCNH2):c.2965+14C>T rs201706355 0.00040
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722 0.00040
NM_001103.4(ACTN2):c.893G>A (p.Arg298His) rs142482143 0.00040
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) rs201080904 0.00040
NM_001368067.1(LDB3):c.771G>A (p.Thr257=) rs144445130 0.00040
NM_001384732.1(CPLANE1):c.8175A>C (p.Ala2725=) rs201122718 0.00040
NM_004006.3(DMD):c.2490C>T (p.Asn830=) rs72468679 0.00040
NM_004408.4(DNM1):c.1707C>T (p.Asn569=) rs145318071 0.00040
NM_017617.5(NOTCH1):c.3644-4G>A rs376161552 0.00040
NM_017780.4(CHD7):c.2751G>A (p.Thr917=) rs369429961 0.00040
NM_019066.5(MAGEL2):c.1423G>T (p.Ala475Ser) rs760039339 0.00040
NM_024334.3(TMEM43):c.1105C>T (p.Leu369Phe) rs144152046 0.00040
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His) rs116911972 0.00040
NM_024685.4(BBS10):c.886G>A (p.Ala296Thr) rs150587582 0.00040
NM_198334.3(GANAB):c.2173G>A (p.Val725Ile) rs199956781 0.00040
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser) rs144536197 0.00039
NM_001037.5(SCN1B):c.448+314C>A rs373295182 0.00039
NM_001105206.3(LAMA4):c.863C>G (p.Ala288Gly) rs150084275 0.00039
NM_001243133.2(NLRP3):c.1032G>A (p.Leu344=) rs180177471 0.00039
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195 0.00039
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) rs56105708 0.00039
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=) rs146720775 0.00039
NM_004006.3(DMD):c.6828C>T (p.Pro2276=) rs72466595 0.00039
NM_006306.4(SMC1A):c.2824C>T (p.Leu942=) rs139654605 0.00039
NM_014141.6(CNTNAP2):c.1777+13T>G rs188140291 0.00039
NM_015046.7(SETX):c.3345C>G (p.Ala1115=) rs142020270 0.00039
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val) rs144703991 0.00039
NM_024408.4(NOTCH2):c.3479A>G (p.His1160Arg) rs142876168 0.00039
NM_024921.4(POF1B):c.85C>A (p.His29Asn) rs145288396 0.00039
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=) rs139070070 0.00038
NM_000116.5(TAFAZZIN):c.542-20C>T rs373841640 0.00038
NM_000186.4(CFH):c.245-8C>T rs537160602 0.00038
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00038
NM_000744.7(CHRNA4):c.383+7C>T rs200690355 0.00038
NM_001008537.3(NEXMIF):c.2098G>C (p.Val700Leu) rs141776597 0.00038
NM_001040142.2(SCN2A):c.1416A>G (p.Arg472=) rs200246820 0.00038
NM_001164508.2(NEB):c.13175G>A (p.Arg4392His) rs772352938 0.00038
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999 0.00038
NM_001267550.2(TTN):c.96016G>A (p.Val32006Met) rs191786700 0.00038
NM_001909.5(CTSD):c.827+13T>C rs369602025 0.00038
NM_002474.3(MYH11):c.3816G>A (p.Glu1272=) rs112990531 0.00038
NM_005184.4(CALM3):c.183C>T (p.Asn61=) rs3729761 0.00038
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala) rs142303658 0.00038
NM_017617.5(NOTCH1):c.2325C>T (p.Tyr775=) rs749686245 0.00038
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) rs147407445 0.00038
NM_020919.4(ALS2):c.1641G>A (p.Arg547=) rs34122078 0.00038
NM_022436.3(ABCG5):c.1365C>T (p.Asp455=) rs141016088 0.00038
NM_030665.4(RAI1):c.1941C>T (p.Ser647=) rs140198185 0.00038
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys) rs151282801 0.00038
NM_138694.4(PKHD1):c.1234-9T>C rs200707468 0.00038
NM_000098.3(CPT2):c.1602G>A (p.Glu534=) rs148110518 0.00037
NM_000238.4(KCNH2):c.1128+1865C>T rs200324802 0.00037
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser) rs142316834 0.00037
NM_004281.4(BAG3):c.888C>T (p.His296=) rs139399890 0.00037
NM_018648.4(NOP10):c.55-9C>T rs72720799 0.00037
NM_032578.4(MYPN):c.1662A>C (p.Ala554=) rs71584488 0.00037
NM_138295.5(PKD1L1):c.3845T>A (p.Val1282Glu) rs138130715 0.00037
NM_000059.4(BRCA2):c.6842-20T>A rs81002811 0.00036
NM_000256.3(MYBPC3):c.906-7G>T rs397516079 0.00036
NM_000257.4(MYH7):c.2349C>T (p.Arg783=) rs139882431 0.00036
NM_000258.3(MYL3):c.307+15C>T rs184025552 0.00036
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271 0.00036
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_001009944.3(PKD1):c.3495C>T (p.Asp1165=) rs375384742 0.00036
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=) rs371931287 0.00036
NM_001065.4(TNFRSF1A):c.369C>T (p.Thr123=) rs104895260 0.00036
NM_001148.6(ANK2):c.2727T>A (p.Thr909=) rs144548535 0.00036
NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile) rs190421400 0.00036
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=) rs140942979 0.00036
NM_002470.4(MYH3):c.3729+9C>T rs201955505 0.00036
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met) rs145611185 0.00036
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp) rs145252402 0.00036
NM_004006.3(DMD):c.3163-18T>C rs72468662 0.00036
NM_006267.5(RANBP2):c.3350C>T (p.Ser1117Leu) rs137976808 0.00036
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00036
NM_014365.3(HSPB8):c.432-16C>T rs183447670 0.00036
NM_014476.6(PDLIM3):c.195G>A (p.Ala65=) rs148570356 0.00036
NM_014795.4(ZEB2):c.1276T>A (p.Leu426Ile) rs201881288 0.00036
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_020774.4(MIB1):c.736T>C (p.Leu246=) rs188600853 0.00036
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val) rs115976458 0.00036
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157 0.00036
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu) rs144989330 0.00036
NM_182961.4(SYNE1):c.15657+5T>A rs199779021 0.00036
NM_198994.3(TGM6):c.555C>T (p.Asp185=) rs144101264 0.00036
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000093.5(COL5A1):c.3474+7C>T rs550497696 0.00035
NM_000179.3(MSH6):c.1449G>T (p.Val483=) rs35590297 0.00035
NM_000257.4(MYH7):c.2334C>T (p.Asp778=) rs2069544 0.00035
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) rs74772771 0.00035
NM_000834.5(GRIN2B):c.3807A>T (p.Pro1269=) rs78765966 0.00035
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg) rs201991587 0.00035
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr) rs200001206 0.00035
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His) rs56071233 0.00035
NM_003640.5(ELP1):c.1911T>C (p.Val637=) rs369645371 0.00035
NM_004006.3(DMD):c.1095A>C (p.Gln365His) rs1800266 0.00035
NM_004463.3(FGD1):c.2043C>T (p.Val681=) rs144902747 0.00035
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser) rs201077220 0.00035
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) rs41272437 0.00035
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val) rs140232809 0.00035
NM_144573.4(NEXN):c.512T>C (p.Ile171Thr) rs372065024 0.00035
NM_173495.3(PTCHD1):c.1012+5T>C rs201933353 0.00035
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=) rs149959668 0.00034
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) rs150291001 0.00034
NM_000433.4(NCF2):c.93C>T (p.Ala31=) rs143889676 0.00034
NM_000454.5(SOD1):c.423T>A (p.Ala141=) rs143100660 0.00034
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys) rs199615557 0.00034
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=) rs139953862 0.00034
NM_001270508.2(TNFAIP3):c.2090G>A (p.Arg697Lys) rs201429571 0.00034
NM_001371596.2(MFSD8):c.1311C>G (p.Ser437=) rs145453022 0.00034
NM_001378454.1(ALMS1):c.7820C>G (p.Ala2607Gly) rs140223281 0.00034
NM_001386795.1(DTNA):c.2039G>A (p.Arg680Gln) rs138143719 0.00034
NM_001458.5(FLNC):c.7991-19C>T rs537052947 0.00034
NM_001715.3(BLK):c.879C>T (p.His293=) rs142623841 0.00034
NM_001909.5(CTSD):c.1071+12A>G rs113936232 0.00034
NM_001999.4(FBN2):c.6666G>A (p.Pro2222=) rs192923239 0.00034
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr) rs375998236 0.00034
NM_002524.5(NRAS):c.360G>A (p.Leu120=) rs143020946 0.00034
NM_002578.5(PAK3):c.1518G>A (p.Arg506=) rs377693111 0.00034
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812 0.00034
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu) rs28935498 0.00034
NM_004975.4(KCNB1):c.1576G>A (p.Val526Ile) rs140932636 0.00034
NM_014000.3(VCL):c.492T>G (p.Leu164=) rs143702799 0.00034
NM_015102.5(NPHP4):c.1120-13G>T rs192450719 0.00034
NM_020433.5(JPH2):c.780C>T (p.Ala260=) rs199840543 0.00034
NM_032043.3(BRIP1):c.380-17T>A rs200050729 0.00034
NM_133379.5(TTN):c.15575G>A (p.Arg5192Lys) rs62179016 0.00034
NM_172107.4(KCNQ2):c.297-18C>T rs370109710 0.00034
NM_000251.3(MSH2):c.2154A>G (p.Gln718=) rs63750810 0.00033
NM_000836.4(GRIN2D):c.3628C>T (p.Pro1210Ser) rs773824115 0.00033
NM_001009944.3(PKD1):c.5577T>C (p.Ala1859=) rs140662778 0.00033
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122 0.00033
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652 0.00033
NM_001458.5(FLNC):c.3765C>A (p.Val1255=) rs556428588 0.00033
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380 0.00033
NM_001999.4(FBN2):c.4983C>T (p.Cys1661=) rs143907156 0.00033
NM_002764.4(PRPS1):c.573G>A (p.Leu191=) rs770518315 0.00033
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451 0.00033
NM_004958.4(MTOR):c.5811+13G>A rs370120494 0.00033
NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met) rs199798029 0.00033
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=) rs140487104 0.00033
NM_015570.4(AUTS2):c.581C>T (p.Ser194Phe) rs150765660 0.00033
NM_018834.6(MATR3):c.1893C>T (p.Ser631=) rs143527811 0.00033
NM_022436.3(ABCG5):c.27C>T (p.Pro9=) rs72542428 0.00033
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00033
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=) rs200852418 0.00032
NM_000371.4(TTR):c.371G>A (p.Arg124His) rs121918095 0.00032
NM_001083962.2(TCF4):c.966T>C (p.Asp322=) rs142998298 0.00032
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=) rs147245615 0.00032
NM_001267550.2(TTN):c.72113C>T (p.Thr24038Met) rs370375696 0.00032
NM_001267550.2(TTN):c.72723C>G (p.Val24241=) rs372701206 0.00032
NM_001270508.2(TNFAIP3):c.322A>G (p.Thr108Ala) rs376205580 0.00032
NM_003042.4(SLC6A1):c.6G>A (p.Ala2=) rs6343 0.00032
NM_003673.4(TCAP):c.60C>G (p.Ala20=) rs146502276 0.00032
NM_003978.5(PSTPIP1):c.354+10G>A rs370745407 0.00032
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys) rs727503828 0.00032
NM_005629.4(SLC6A8):c.544G>A (p.Val182Met) rs149024147 0.00032
NM_006329.4(FBLN5):c.1341A>G (p.Pro447=) rs145296787 0.00032
NM_015335.5(MED13L):c.4697C>T (p.Ser1566Leu) rs113890513 0.00032
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00032
NM_021072.4(HCN1):c.240C>A (p.Gly80=) rs373664268 0.00032
NM_025137.4(SPG11):c.257+13G>A rs201936649 0.00032
NM_000039.3(APOA1):c.327G>A (p.Glu109=) rs113733249 0.00031
NM_000092.5(COL4A4):c.3108T>C (p.Gly1036=) rs201962241 0.00031
NM_000168.6(GLI3):c.211G>A (p.Val71Ile) rs143843875 0.00031
NM_000587.4(C7):c.2350+2T>C rs201240159 0.00031
NM_001110556.2(FLNA):c.5193G>A (p.Val1731=) rs201458268 0.00031
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00031
NM_001134363.3(RBM20):c.3648C>T (p.Ser1216=) rs554167951 0.00031
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val) rs72648221 0.00031
NM_001270508.2(TNFAIP3):c.295+8T>C rs370813134 0.00031
NM_002335.4(LRP5):c.675C>T (p.Asp225=) rs138207107 0.00031
NM_002471.4(MYH6):c.5112G>A (p.Ala1704=) rs150450178 0.00031
NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser) rs113696032 0.00031
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn) rs150821246 0.00031
NM_005068.3(SIM1):c.1569T>C (p.His523=) rs138590764 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_014476.6(PDLIM3):c.169A>G (p.Thr57Ala) rs142951316 0.00031
NM_014795.4(ZEB2):c.759C>T (p.Arg253=) rs150853991 0.00031
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp) rs150036969 0.00031
NM_053025.4(MYLK):c.711C>T (p.Asn237=) rs149407805 0.00031
NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys) rs143578863 0.00031
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) rs34295337 0.00030
NM_000258.3(MYL3):c.482-17C>T rs201289145 0.00030
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00030
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00030
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452 0.00030
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=) rs375821223 0.00030
NM_001110556.2(FLNA):c.1691+7C>A rs199565118 0.00030
NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala) rs372782502 0.00030
NM_001267550.2(TTN):c.80271C>T (p.Val26757=) rs199875474 0.00030
NM_001267550.2(TTN):c.93524G>A (p.Arg31175His) rs72648251 0.00030
NM_001267550.2(TTN):c.94863C>T (p.His31621=) rs373871146 0.00030
NM_002691.4(POLD1):c.714G>A (p.Thr238=) rs149096523 0.00030
NM_003280.3(TNNC1):c.108C>A (p.Ile36=) rs202000367 0.00030
NM_004281.4(BAG3):c.230C>T (p.Pro77Leu) rs141355480 0.00030
NM_020822.3(KCNT1):c.2166G>A (p.Leu722=) rs374347802 0.00030
NM_000335.5(SCN5A):c.3837+17G>A rs45466091 0.00029
NM_000719.7(CACNA1C):c.2460+6G>A rs369246066 0.00029
NM_001018005.2(TPM1):c.563+313A>G rs144700226 0.00029
NM_001035.3(RYR2):c.10231-5C>T rs186326951 0.00029
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635 0.00029
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330 0.00029
NM_002474.3(MYH11):c.3531G>A (p.Thr1177=) rs149980738 0.00029
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile) rs200018416 0.00029
NM_005629.4(SLC6A8):c.1767+15C>T rs370331295 0.00029
NM_017553.3(INO80):c.1833C>T (p.Phe611=) rs147454171 0.00029
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=) rs143346402 0.00029
NM_024649.5(BBS1):c.1695+10G>A rs200276861 0.00029
NM_145046.5(CALR3):c.60C>G (p.Thr20=) rs370721650 0.00029
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812 0.00029
NM_000156.6(GAMT):c.279C>T (p.Asp93=) rs144630886 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000487.6(ARSA):c.982G>A (p.Val328Met) rs143994992 0.00028
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=) rs1800121 0.00028
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870 0.00028
NM_001242896.3(DEPDC5):c.363+6_363+7del rs748242785 0.00028
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn) rs144963736 0.00028
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala) rs200689750 0.00028
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val) rs72646898 0.00028
NM_001358921.2(COQ2):c.136C>T (p.Pro46Ser) rs767013819 0.00028
NM_006790.3(MYOT):c.617G>A (p.Gly206Asp) rs151094883 0.00028
NM_007078.3(LDB3):c.1035C>T (p.Ile345=) rs121908336 0.00028
NM_007294.4(BRCA1):c.548-17G>T rs80358014 0.00028
NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=) rs202231073 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_000168.6(GLI3):c.3935T>G (p.Met1312Arg) rs199875457 0.00027
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501 0.00027
NM_001018005.2(TPM1):c.375-5T>C rs377061868 0.00027
NM_001035.3(RYR2):c.8831-9A>C rs187977513 0.00027
NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=) rs147894075 0.00027
NM_001105206.3(LAMA4):c.1614G>A (p.Ala538=) rs143587921 0.00027
NM_001148.6(ANK2):c.6633C>T (p.Ala2211=) rs143516811 0.00027
NM_001267550.2(TTN):c.75762G>T (p.Val25254=) rs374003257 0.00027
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257 0.00027
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_004281.4(BAG3):c.771C>T (p.Pro257=) rs200212999 0.00027
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00027
NM_014425.5(INVS):c.67G>A (p.Val23Ile) rs145303373 0.00027
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr) rs561310777 0.00027
NM_031885.5(BBS2):c.1134A>G (p.Pro378=) rs185178790 0.00027
NM_033118.4(MYLK2):c.972+14G>A rs193922713 0.00027
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 0.00026
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00026
NM_000064.4(C3):c.4635C>T (p.Tyr1545=) rs189948635 0.00026
NM_000214.3(JAG1):c.414G>A (p.Ala138=) rs371682149 0.00026
NM_000379.4(XDH):c.704C>T (p.Thr235Met) rs45469499 0.00026
NM_000532.5(PCCB):c.82C>G (p.Leu28Val) rs141137691 0.00026
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser) rs141670808 0.00026
NM_001035.3(RYR2):c.14757-19A>G rs190533014 0.00026
NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val) rs199804623 0.00026
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=) rs201246720 0.00026
NM_001267550.2(TTN):c.98892C>T (p.Pro32964=) rs374081262 0.00026
NM_001458.5(FLNC):c.5367C>T (p.Ile1789=) rs377214486 0.00026
NM_001999.4(FBN2):c.1850-9C>T rs199937209 0.00026
NM_004006.3(DMD):c.9225-5795G>A rs138287985 0.00026
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_017617.5(NOTCH1):c.5638+19A>G rs368675083 0.00026
NM_020774.4(MIB1):c.1830-18T>C rs201761957 0.00026
NM_024009.3(GJB3):c.264G>A (p.Ser88=) rs201469743 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000059.4(BRCA2):c.516+14C>T rs182828913 0.00025
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00025
NM_000089.4(COL1A2):c.2163C>T (p.Gly721=) rs150670521 0.00025
NM_000384.3(APOB):c.2817-19T>G rs72653069 0.00025
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788 0.00025
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=) rs572036869 0.00025
NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile) rs202124287 0.00025
NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val) rs180177501 0.00025
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575 0.00025
NM_001267550.2(TTN):c.57646A>G (p.Ile19216Val) rs374058726 0.00025
NM_001711.6(BGN):c.351+6G>A rs370838225 0.00025
NM_001849.4(COL6A2):c.2331C>T (p.Cys777=) rs181711180 0.00025
NM_002661.5(PLCG2):c.1160A>C (p.Gln387Pro) rs201654184 0.00025
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719 0.00025
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_015158.5(KANK1):c.3554-5T>A rs76738278 0.00025
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn) rs145132275 0.00025
NM_053025.4(MYLK):c.2253C>T (p.Thr751=) rs138777049 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile) rs142204928 0.00025
NM_182914.3(SYNE2):c.16178C>T (p.Ala5393Val) rs147173048 0.00025
NM_198253.3(TERT):c.1392C>T (p.Phe464=) rs186596886 0.00025
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521 0.00024
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993 0.00024
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro) rs377225516 0.00024
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00024
NM_001009944.3(PKD1):c.6331G>A (p.Glu2111Lys) rs138672759 0.00024
NM_001035.3(RYR2):c.10554+16T>C rs370288739 0.00024
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met) rs193922635 0.00024
NM_001105206.3(LAMA4):c.456T>A (p.Ala152=) rs149106800 0.00024
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter) rs575822089 0.00024
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) rs375448572 0.00024
NM_001267550.2(TTN):c.35875+8T>G rs192408585 0.00024
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=) rs370479059 0.00024
NM_001375808.2(LPIN2):c.1168+6C>T rs200130790 0.00024
NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg) rs142744204 0.00024
NM_001395413.1(POR):c.1806+8G>A rs72557952 0.00024
NM_002294.3(LAMP2):c.741+11C>T rs149155417 0.00024
NM_002471.4(MYH6):c.2685+10C>T rs202155137 0.00024
NM_004281.4(BAG3):c.1240G>A (p.Glu414Lys) rs117749531 0.00024
NM_004484.4(GPC3):c.876T>C (p.Ile292=) rs61754633 0.00024
NM_004667.6(HERC2):c.10021C>T (p.Gln3341Ter) rs371406398 0.00024
NM_007074.4(CORO1A):c.1146T>C (p.Gly382=) rs201734831 0.00024
NM_007315.4(STAT1):c.1248C>G (p.Gly416=) rs140787216 0.00024
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr) rs202004152 0.00024
NM_015991.4(C1QA):c.581A>C (p.Asn194Thr) rs201816009 0.00024
NM_016599.5(MYOZ2):c.39G>A (p.Gln13=) rs145688699 0.00024
NM_058216.3(RAD51C):c.145+12T>G rs377297129 0.00024
NM_153033.5(KCTD7):c.687T>C (p.Asp229=) rs372150992 0.00024
NM_171998.4(RAB39B):c.543A>G (p.Thr181=) rs369970931 0.00024
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_000257.4(MYH7):c.797-17T>C rs532401716 0.00023
NM_000393.5(COL5A2):c.322+8T>C rs372227642 0.00023
NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys) rs200524526 0.00023
NM_001145252.3(CFP):c.663C>T (p.Ser221=) rs367635632 0.00023
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00023
NM_001267550.2(TTN):c.54148C>T (p.Arg18050Cys) rs55734111 0.00023
NM_001267550.2(TTN):c.59344+3G>A rs142095604 0.00023
NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly) rs202032875 0.00023
NM_001267550.2(TTN):c.66160+15C>T rs377288086 0.00023
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala) rs368877793 0.00023
NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys) rs145293873 0.00023
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro) rs201517720 0.00023
NM_001378615.1(CC2D2A):c.4675-15G>A rs377573053 0.00023
NM_002474.3(MYH11):c.2802G>A (p.Glu934=) rs138977949 0.00023
NM_003611.3(OFD1):c.2260+12G>A rs375507459 0.00023
NM_004006.3(DMD):c.2386G>A (p.Val796Ile) rs139726281 0.00023
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=) rs144434028 0.00023
NM_005585.5(SMAD6):c.1260C>T (p.Pro420=) rs371930288 0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_030653.4(DDX11):c.1763-1G>C rs148856317 0.00023
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00023
NM_152296.5(ATP1A3):c.1193-4C>G rs200111818 0.00023
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr) rs375991767 0.00023
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_001110556.2(FLNA):c.1229-8C>T rs376190976 0.00022
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641 0.00022
NM_001330260.2(SCN8A):c.5601G>A (p.Gln1867=) rs368449473 0.00022
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=) rs771914973 0.00022
NM_002471.4(MYH6):c.4137G>A (p.Thr1379=) rs372158844 0.00022
NM_002471.4(MYH6):c.4594C>T (p.Arg1532Cys) rs201827489 0.00022
NM_007294.4(BRCA1):c.528G>A (p.Thr176=) rs34545365 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_025099.6(CTC1):c.3515-10C>T rs200225342 0.00022
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654 0.00021
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) rs146726731 0.00021
NM_000243.3(MEFV):c.1760-28T>A rs104895169 0.00021
NM_000548.5(TSC2):c.2427C>T (p.Ser809=) rs182849638 0.00021
NM_001035.3(RYR2):c.1005+13A>G rs552027921 0.00021
NM_001037.5(SCN1B):c.348G>A (p.Ser116=) rs375050816 0.00021
NM_001110792.2(MECP2):c.1020C>T (p.Leu340=) rs61751442 0.00021
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732 0.00021
NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys) rs201510986 0.00021
NM_001267550.2(TTN):c.62280T>C (p.Val20760=) rs372065796 0.00021
NM_001267550.2(TTN):c.70644C>T (p.Thr23548=) rs148210834 0.00021
NM_001276345.2(TNNT2):c.200-11A>G rs368658464 0.00021
NM_001365276.2(TNXB):c.1671C>T (p.Arg557=) rs367731133 0.00021
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln) rs147447269 0.00021
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090 0.00021
NM_014000.3(VCL):c.590C>T (p.Thr197Ile) rs189242810 0.00021
NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln) rs143763650 0.00021
NM_017617.5(NOTCH1):c.2970-9C>T rs568052902 0.00021
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) rs61743849 0.00021
NM_020207.7(ERCC6L2):c.1930C>T (p.Arg644Ter) rs147948835 0.00021
NM_021167.5(GATAD1):c.48G>A (p.Ser16=) rs376686657 0.00021
NM_024422.6(DSC2):c.1520+8C>G rs372979057 0.00021
NM_024422.6(DSC2):c.2509-153_2509-152del rs372836109 0.00021
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678 0.00021
NM_152424.4(AMER1):c.790G>A (p.Ala264Thr) rs150929706 0.00021
NM_170707.4(LMNA):c.1017G>A (p.Ala339=) rs17847242 0.00021
NM_175914.5(HNF4A):c.427-4G>A rs146751799 0.00021
NR_028089.1(NXF5):n.775A>G rs141000813 0.00021
NM_000393.5(COL5A2):c.2338-6T>C rs375291199 0.00020
NM_000489.6(ATRX):c.2720G>A (p.Arg907Gln) rs143413618 0.00020
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00020
NM_001243133.2(NLRP3):c.1383C>T (p.Cys461=) rs104895398 0.00020
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) rs373355159 0.00020
NM_001267550.2(TTN):c.83133G>A (p.Lys27711=) rs369223412 0.00020
NM_004972.4(JAK2):c.143G>A (p.Gly48Glu) rs143227399 0.00020
NM_005911.6(MAT2A):c.831T>C (p.His277=) rs144914741 0.00020
NM_014467.3(SRPX2):c.693C>A (p.His231Gln) rs142719253 0.00020
NM_021625.5(TRPV4):c.1584+13C>T rs199712027 0.00020
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) rs201295052 0.00020
NM_053025.4(MYLK):c.1310-20T>C rs375101899 0.00020
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00019
NM_000138.5(FBN1):c.6705A>C (p.Gly2235=) rs2229326 0.00019
NM_000271.5(NPC1):c.3477+19T>C rs375942184 0.00019
NM_001111125.3(IQSEC2):c.3735C>T (p.His1245=) rs797045630 0.00019
NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=) rs749357610 0.00019
NM_001165963.4(SCN1A):c.694+10A>G rs373417440 0.00019
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) rs368321767 0.00019
NM_001271.4(CHD2):c.4278+5T>C rs202174434 0.00019
NM_001330078.2(NRXN1):c.3129A>G (p.Val1043=) rs200698497 0.00019
NM_002471.4(MYH6):c.2841C>T (p.Asp947=) rs140305424 0.00019
NM_004415.4(DSP):c.1344G>A (p.Leu448=) rs138226280 0.00019
NM_004519.4(KCNQ3):c.834T>C (p.Leu278=) rs769657433 0.00019
NM_004595.5(SMS):c.171C>T (p.Ser57=) rs201558273 0.00019
NM_004715.5(CTDP1):c.351G>A (p.Pro117=) rs139441883 0.00019
NM_004985.5(KRAS):c.451-5535A>C rs201170656 0.00019
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_015141.4(GPD1L):c.459C>T (p.Asn153=) rs375532052 0.00019
NM_015450.3(POT1):c.64A>G (p.Ile22Val) rs375440229 0.00019
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=) rs397517263 0.00019
NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met) rs202096917 0.00019
NM_030930.4(UNC93B1):c.1449C>T (p.Phe483=) rs371738908 0.00019
NM_145239.3(PRRT2):c.225G>A (p.Pro75=) rs199662641 0.00019
NM_174934.4(SCN4B):c.18C>A (p.Asp6Glu) rs149979176 0.00019
NM_178170.3(NEK8):c.294C>G (p.Ser98=) rs140255077 0.00019
NM_198282.4(STING1):c.575G>T (p.Gly192Val) rs201096097 0.00019
NM_000059.4(BRCA2):c.7976+23C>T rs183623188 0.00018
NM_000169.3(GLA):c.129C>T (p.Gly43=) rs146177035 0.00018
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379 0.00018
NM_001148.6(ANK2):c.9526G>T (p.Asp3176Tyr) rs138928206 0.00018
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu) rs55906845 0.00018
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853 0.00018
NM_001267550.2(TTN):c.65575+10T>C rs72646864 0.00018
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His) rs202149931 0.00018
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) rs200766837 0.00018
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=) rs376532382 0.00018
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=) rs369626133 0.00018
NM_001365536.1(SCN9A):c.2344-20A>T rs199905079 0.00018
NM_001458.5(FLNC):c.1924G>A (p.Val642Ile) rs369387744 0.00018
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) rs180695545 0.00018
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522 0.00018
NM_003737.4(DCHS1):c.4553G>A (p.Arg1518Gln) rs753287108 0.00018
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00018
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087 0.00018
NM_007294.4(BRCA1):c.5406+33A>T rs80358092 0.00018
NM_014000.3(VCL):c.81C>T (p.His27=) rs200733607 0.00018
NM_015141.4(GPD1L):c.247G>A (p.Glu83Lys) rs72552292 0.00018
NM_015158.5(KANK1):c.2686G>C (p.Gly896Arg) rs180806437 0.00018
NM_024426.6(WT1):c.193G>A (p.Gly65Arg) rs374404615 0.00018
NM_144997.7(FLCN):c.396+4A>G rs370353839 0.00018
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475 0.00017
NM_000051.4(ATM):c.4980C>T (p.Asn1660=) rs144338238 0.00017
NM_000243.3(MEFV):c.1245C>T (p.Val415=) rs104895195 0.00017
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002 0.00017
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343 0.00017
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu) rs200735475 0.00017
NM_001035.3(RYR2):c.3024G>A (p.Ala1008=) rs566157997 0.00017
NM_001110556.2(FLNA):c.2023-4C>G rs368719012 0.00017
NM_001110792.2(MECP2):c.621C>T (p.Gly207=) rs61749712 0.00017
NM_001127222.2(CACNA1A):c.4591-9C>G rs16032 0.00017
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu) rs368820294 0.00017
NM_001267550.2(TTN):c.687T>C (p.Phe229=) rs376527094 0.00017
NM_001267550.2(TTN):c.80554C>T (p.Arg26852Cys) rs185887755 0.00017
NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn) rs200697681 0.00017
NM_001289125.3(IFNAR2):c.1315G>A (p.Asp439Asn) rs149040664 0.00017
NM_001365276.2(TNXB):c.6819C>T (p.Pro2273=) rs374172438 0.00017
NM_001379110.1(SLC9A6):c.1582-3C>T rs563279759 0.00017
NM_001458.5(FLNC):c.1976T>G (p.Leu659Arg) rs576402053 0.00017
NM_001458.5(FLNC):c.6387C>T (p.Thr2129=) rs200182180 0.00017
NM_001458.5(FLNC):c.6888C>T (p.His2296=) rs375259002 0.00017
NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp) rs148208753 0.00017
NM_004415.4(DSP):c.2121C>T (p.Asn707=) rs368590198 0.00017
NM_006393.3(NEBL):c.2307T>C (p.Ala769=) rs144815863 0.00017
NM_015102.5(NPHP4):c.1923C>T (p.Asn641=) rs372430727 0.00017
NM_019066.5(MAGEL2):c.3140T>C (p.Val1047Ala) rs576711188 0.00017
NM_020297.4(ABCC9):c.4062G>A (p.Ser1354=) rs145005748 0.00017
NM_030787.4(CFHR5):c.880G>A (p.Glu294Lys) rs201084185 0.00017
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg) rs182698253 0.00017
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000169.3(GLA):c.123C>T (p.Thr41=) rs137902198 0.00016
NM_000257.4(MYH7):c.3727-18C>T rs369549958 0.00016
NM_000257.4(MYH7):c.4953+17G>A rs376604168 0.00016
NM_001018005.2(TPM1):c.115-316G>A rs397516491 0.00016
NM_001040151.2(SCN3B):c.583G>A (p.Ala195Thr) rs375755770 0.00016
NM_001134363.3(RBM20):c.1455A>G (p.Ser485=) rs751559376 0.00016
NM_001165963.4(SCN1A):c.1378-3T>C rs150964803 0.00016
NM_001282225.2(ADA2):c.973-2A>G rs139750129 0.00016
NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp) rs763039506 0.00016
NM_001458.5(FLNC):c.1923C>T (p.His641=) rs375361259 0.00016
NM_001458.5(FLNC):c.4153C>T (p.Leu1385=) rs202125701 0.00016
NM_001458.5(FLNC):c.4763C>G (p.Ala1588Gly) rs148545460 0.00016
NM_001458.5(FLNC):c.96G>A (p.Ala32=) rs368239688 0.00016
NM_001943.5(DSG2):c.783T>A (p.Arg261=) rs369869320 0.00016
NM_003172.4(SURF1):c.745A>G (p.Asn249Asp) rs587669420 0.00016
NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala) rs201453600 0.00016
NM_004006.3(DMD):c.9486G>A (p.Glu3162=) rs370724251 0.00016
NM_004172.5(SLC1A3):c.1425-8G>C rs202233020 0.00016
NM_004281.4(BAG3):c.1588G>A (p.Val530Met) rs144678100 0.00016
NM_005902.4(SMAD3):c.984G>A (p.Pro328=) rs150994304 0.00016
NM_006516.4(SLC2A1):c.972+7del rs531385270 0.00016
NM_014000.3(VCL):c.1842G>A (p.Thr614=) rs144117013 0.00016
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=) rs374944458 0.00016
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579 0.00016
NM_144573.4(NEXN):c.865-17A>G rs201771600 0.00016
NM_144573.4(NEXN):c.893C>G (p.Thr298Arg) rs200753280 0.00016
NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter) rs145119918 0.00016
NM_170707.4(LMNA):c.1656C>T (p.Asp552=) rs370219874 0.00016
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr) rs199472676 0.00015
NM_000238.4(KCNH2):c.1128+1811G>A rs41313083 0.00015
NM_000243.3(MEFV):c.1518C>T (p.Ile506=) rs104895099 0.00015
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00015
NM_000501.4(ELN):c.232+3G>A rs377172364 0.00015
NM_001015877.2(PHF6):c.241-13C>T rs375674521 0.00015
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile) rs61753966 0.00015
NM_001365276.2(TNXB):c.2981G>A (p.Arg994His) rs372167278 0.00015
NM_001366385.1(CARD14):c.2476C>T (p.Arg826Trp) rs139467141 0.00015
NM_001458.5(FLNC):c.7136-6C>A rs368292177 0.00015
NM_001943.5(DSG2):c.1851C>T (p.Leu617=) rs202057770 0.00015
NM_002230.4(JUP):c.2086+13C>T rs199935213 0.00015
NM_002230.4(JUP):c.426C>T (p.Arg142=) rs142599474 0.00015
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His) rs267606904 0.00015
NM_002471.4(MYH6):c.3732+13C>T rs369889994 0.00015
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr) rs397516775 0.00015
NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln) rs149241435 0.00015
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) rs146251034 0.00015
NM_005045.4(RELN):c.2376T>C (p.Gly792=) rs398124191 0.00015
NM_015311.3(OBSL1):c.4745G>A (p.Gly1582Glu) rs201690766 0.00015
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=) rs376020564 0.00015
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=) rs370153686 0.00015
NM_130837.3(OPA1):c.70A>G (p.Ile24Val) rs201520438 0.00015
NM_144573.4(NEXN):c.78T>C (p.Leu26=) rs376535223 0.00015
NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=) rs373180830 0.00015
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656 0.00014
NM_000204.5(CFI):c.905-3T>C rs377535161 0.00014
NM_000540.3(RYR1):c.641C>T (p.Thr214Met) rs727504129 0.00014
NM_001005242.3(PKP2):c.195C>T (p.Ala65=) rs397517014 0.00014
NM_001035.3(RYR2):c.10523T>C (p.Ile3508Thr) rs115622575 0.00014
NM_001035.3(RYR2):c.1476+4C>T rs369442980 0.00014
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623 0.00014
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His) rs79457258 0.00014
NM_001042432.2(CLN3):c.677+8G>A rs368568189 0.00014
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_001267550.2(TTN):c.102561C>T (p.Tyr34187=) rs375625664 0.00014
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=) rs375006117 0.00014
NM_003238.6(TGFB2):c.347-14C>G rs371982231 0.00014
NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe) rs760733415 0.00014
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr) rs185706283 0.00014
NM_004484.4(GPC3):c.172C>T (p.Pro58Ser) rs147231796 0.00014
NM_007078.3(LDB3):c.1956C>T (p.Asp652=) rs139213290 0.00014
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447 0.00014
NM_015272.5(RPGRIP1L):c.530-15T>C rs368728064 0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_022114.4(PRDM16):c.3406G>A (p.Gly1136Arg) rs775245244 0.00014
NM_024334.3(TMEM43):c.864C>T (p.His288=) rs377585035 0.00014
NM_033004.4(NLRP1):c.2341C>A (p.Pro781Thr) rs201368394 0.00014
NM_152424.4(AMER1):c.1802G>A (p.Arg601Gln) rs149865410 0.00014
NM_170784.3(MKKS):c.1553G>A (p.Arg518His) rs149051148 0.00014
NM_000117.3(EMD):c.428C>T (p.Ser143Phe) rs139983160 0.00013
NM_000138.5(FBN1):c.8232G>A (p.Gln2744=) rs376119827 0.00013
NM_000257.4(MYH7):c.2526T>C (p.Ser842=) rs554560162 0.00013
NM_000371.4(TTR):c.384C>T (p.Ala128=) rs143906738 0.00013
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279 0.00013
NM_001018005.2(TPM1):c.114+14C>T rs576659891 0.00013
NM_001099922.3(ALG13):c.2685C>T (p.His895=) rs374572450 0.00013
NM_001112741.2(KCNC1):c.683G>T (p.Arg228Leu) rs200873319 0.00013
NM_001243133.2(NLRP3):c.2419G>A (p.Ala807Thr) rs201096167 0.00013
NM_001267550.2(TTN):c.82688G>A (p.Arg27563His) rs118079537 0.00013
NM_001267550.2(TTN):c.85443A>G (p.Ala28481=) rs373326137 0.00013
NM_001270508.2(TNFAIP3):c.619A>C (p.Ile207Leu) rs141807543 0.00013
NM_001379081.2(FREM1):c.3971T>G (p.Leu1324Arg) rs281875281 0.00013
NM_001458.5(FLNC):c.3090C>T (p.Pro1030=) rs760926290 0.00013
NM_001458.5(FLNC):c.600C>T (p.Pro200=) rs202105410 0.00013
NM_001943.5(DSG2):c.148G>A (p.Ala50Thr) rs1267795586 0.00013
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg) rs201564919 0.00013
NM_002230.4(JUP):c.1365C>T (p.Ala455=) rs77375949 0.00013
NM_002230.4(JUP):c.1925-19T>G rs545000698 0.00013
NM_002471.4(MYH6):c.1252G>A (p.Val418Met) rs147606900 0.00013
NM_002474.3(MYH11):c.3858+16G>C rs370164910 0.00013
NM_002968.3(SALL1):c.235G>C (p.Ala79Pro) rs536108231 0.00013
NM_003640.5(ELP1):c.3222+14C>T rs374787755 0.00013
NM_005477.3(HCN4):c.621C>G (p.Arg207=) rs727503958 0.00013
NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=) rs370053768 0.00013
NM_182961.4(SYNE1):c.20070G>C (p.Thr6690=) rs141263831 0.00013
NC_000011.10:g.47349757G>A rs369864892 0.00012
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633 0.00012
NM_000219.6(KCNE1):c.162C>T (p.Phe54=) rs17173508 0.00012
NM_000346.4(SOX9):c.711A>C (p.Pro237=) rs1305561578 0.00012
NM_000384.3(APOB):c.288G>T (p.Gln96His) rs186544754 0.00012
NM_001008537.3(NEXMIF):c.3823A>G (p.Ser1275Gly) rs201434271 0.00012
NM_001103.4(ACTN2):c.1974+10C>T rs368354944 0.00012
NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser) rs375205247 0.00012
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=) rs201236364 0.00012
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg) rs121907899 0.00012
NM_001134407.3(GRIN2A):c.819A>G (p.Pro273=) rs148085725 0.00012
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=) rs72646889 0.00012
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=) rs372543652 0.00012
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys) rs775769503 0.00012
NM_001458.5(FLNC):c.1568T>C (p.Val523Ala) rs182845462 0.00012
NM_001458.5(FLNC):c.5127C>T (p.Pro1709=) rs540345016 0.00012
NM_001737.5(C9):c.1345G>A (p.Val449Met) rs374259433 0.00012
NM_002335.4(LRP5):c.2175T>C (p.Val725=) rs200570645 0.00012
NM_002800.5(PSMB9):c.377G>A (p.Arg126His) rs56239515 0.00012
NM_005912.2(MC4R):c.110A>T (p.Asp37Val) rs13447325 0.00012
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_014846.4(WASHC5):c.1217A>G (p.Asn406Ser) rs200456170 0.00012
NM_017617.5(NOTCH1):c.1670-19C>T rs377686947 0.00012
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=) rs200332386 0.00012
NM_145046.5(CALR3):c.403G>A (p.Asp135Asn) rs143932873 0.00012
NM_145046.5(CALR3):c.564del (p.Gln189fs) rs747656642 0.00012
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile) rs28897715 0.00011
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926 0.00011
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln) rs200443942 0.00011
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp) rs577618553 0.00011
NM_000151.4(G6PC1):c.910G>A (p.Val304Ile) rs768385469 0.00011
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000302.4(PLOD1):c.303C>T (p.Ser101=) rs147980436 0.00011
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=) rs372970828 0.00011
NM_000335.5(SCN5A):c.2103G>A (p.Pro701=) rs564847999 0.00011
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_000722.4(CACNA2D1):c.1648G>T (p.Asp550Tyr) rs542692632 0.00011
NM_001032283.3(TMPO):c.949A>T (p.Ile317Leu) rs368800243 0.00011
NM_001032382.2(PQBP1):c.585C>T (p.Ser195=) rs149688357 0.00011
NM_001081.4(CUBN):c.3746G>A (p.Arg1249His) rs151039810 0.00011
NM_001083962.2(TCF4):c.1299G>A (p.Leu433=) rs552340151 0.00011
NM_001134363.3(RBM20):c.1275+8G>T rs727505318 0.00011
NM_001148.6(ANK2):c.4287A>G (p.Ser1429=) rs72556369 0.00011
NM_001159699.2(FHL1):c.737-18del rs776759929 0.00011
NM_001191061.2(SLC25A22):c.414C>T (p.Ala138=) rs199887745 0.00011
NM_001191061.2(SLC25A22):c.834C>T (p.His278=) rs187824231 0.00011
NM_001195553.2(DCX):c.429T>C (p.Asn143=) rs761104151 0.00011
NM_001267550.2(TTN):c.11066T>C (p.Ile3689Thr) rs527924868 0.00011
NM_001267550.2(TTN):c.1449C>T (p.Ala483=) rs141617218 0.00011
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly) rs370812788 0.00011
NM_001267550.2(TTN):c.50858-3C>T rs587782987 0.00011
NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser) rs773035917 0.00011
NM_001372044.2(SHANK3):c.3959C>T (p.Ala1320Val) rs552332994 0.00011
NM_001375808.2(LPIN2):c.1169-3C>T rs200259086 0.00011
NM_001735.3(C5):c.2420C>T (p.Thr807Ile) rs372326645 0.00011
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_001999.4(FBN2):c.2625T>C (p.Cys875=) rs371502563 0.00011
NM_002471.4(MYH6):c.1410C>T (p.Asp470=) rs139886074 0.00011
NM_002485.5(NBN):c.1914+10G>A rs577706448 0.00011
NM_004380.3(CREBBP):c.4280+8T>C rs376814421 0.00011
NM_006790.3(MYOT):c.594G>A (p.Val198=) rs372287923 0.00011
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=) rs41286292 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_013266.4(CTNNA3):c.1732+8A>G rs372686443 0.00011
NM_021830.5(TWNK):c.169G>A (p.Ala57Thr) rs373068264 0.00011
NM_022114.4(PRDM16):c.1719G>A (p.Ala573=) rs374254884 0.00011
NM_024334.3(TMEM43):c.882+17A>G rs370443570 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_033337.3(CAV3):c.204C>A (p.Ser68=) rs116840775 0.00011
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_173842.3(IL1RN):c.529G>A (p.Glu177Lys) rs114929884 0.00011
NM_201384.3(PLEC):c.11077G>A (p.Ala3693Thr) rs369497741 0.00011
NM_000229.2(LCAT):c.879C>T (p.Pro293=) rs200225997 0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=) rs368980118 0.00010
NM_000337.6(SGCD):c.402T>C (p.Ala134=) rs190935424 0.00010
NM_000388.4(CASR):c.73C>T (p.Arg25Ter) rs201633414 0.00010
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_000562.3(C8A):c.1657G>A (p.Ala553Thr) rs375719279 0.00010
NM_001009944.3(PKD1):c.9022G>A (p.Val3008Met) rs117896488 0.00010
NM_001035.3(RYR2):c.9067+10C>T rs372631657 0.00010
NM_001105206.3(LAMA4):c.1821G>A (p.Lys607=) rs374481199 0.00010
NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp) rs150046661 0.00010
NM_001130438.3(SPTAN1):c.5044-4C>T rs749484552 0.00010
NM_001159699.2(FHL1):c.737-11_737-8del rs754404850 0.00010
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter) rs370912401 0.00010
NM_001267550.2(TTN):c.49278T>C (p.Ala16426=) rs372633280 0.00010
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu) rs200778464 0.00010
NM_001267550.2(TTN):c.93981C>G (p.Val31327=) rs370894846 0.00010
NM_003239.5(TGFB3):c.873G>A (p.Pro291=) rs370006165 0.00010
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp) rs144641271 0.00010
NM_005045.4(RELN):c.5274G>T (p.Ala1758=) rs139102992 0.00010
NM_005548.3(KARS1):c.222+10C>T rs374496494 0.00010
NM_012275.3(IL36RN):c.142C>T (p.Arg48Trp) rs151325121 0.00010
NM_015915.5(ATL1):c.322A>G (p.Thr108Ala) rs112496709 0.00010
NM_016327.3(UPB1):c.105-2A>G rs138081800 0.00010
NM_017777.4(MKS1):c.1435C>T (p.Arg479Cys) rs769442220 0.00010
NM_033337.3(CAV3):c.168C>T (p.Gly56=) rs116840774 0.00010
NM_053025.4(MYLK):c.1133G>A (p.Arg378His) rs56378658 0.00010
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572 0.00009
NM_000093.5(COL5A1):c.3691-9T>C rs187584029 0.00009
NM_000214.3(JAG1):c.1608C>T (p.Asn536=) rs200648453 0.00009
NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=) rs370676650 0.00009
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys) rs193922385 0.00009
NM_000256.3(MYBPC3):c.648C>T (p.Ala216=) rs777418402 0.00009
NM_000335.5(SCN5A):c.1338+20G>A rs45626543 0.00009
NM_000335.5(SCN5A):c.885G>A (p.Glu295=) rs373342830 0.00009
NM_000368.5(TSC1):c.1333+5A>G rs118203515 0.00009
NM_000455.5(STK11):c.787T>C (p.Leu263=) rs372378119 0.00009
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=) rs751225159 0.00009
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val) rs374244026 0.00009
NM_001008537.3(NEXMIF):c.4422G>A (p.Lys1474=) rs371190782 0.00009
NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys) rs782557713 0.00009
NM_001267550.2(TTN):c.1245+20G>T rs371234481 0.00009
NM_001267550.2(TTN):c.2061A>G (p.Gln687=) rs188680791 0.00009
NM_001267550.2(TTN):c.41931T>C (p.Tyr13977=) rs369128249 0.00009
NM_001267550.2(TTN):c.47133A>G (p.Ala15711=) rs573218266 0.00009
NM_001267550.2(TTN):c.52317A>G (p.Lys17439=) rs370450339 0.00009
NM_001267550.2(TTN):c.63960T>A (p.Val21320=) rs397517655 0.00009
NM_001267550.2(TTN):c.79334G>A (p.Arg26445His) rs764254441 0.00009
NM_001267550.2(TTN):c.81565C>G (p.Leu27189Val) rs142391957 0.00009
NM_001267550.2(TTN):c.82692G>A (p.Ala27564=) rs557628408 0.00009
NM_001267550.2(TTN):c.93255G>A (p.Pro31085=) rs372611171 0.00009
NM_001378969.1(KCND3):c.1062C>A (p.Ile354=) rs150934088 0.00009
NM_001458.5(FLNC):c.1605C>T (p.Cys535=) rs199976790 0.00009
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val) rs200516164 0.00009
NM_002294.3(LAMP2):c.42C>T (p.Leu14=) rs727503122 0.00009
NM_003664.5(AP3B1):c.2340C>T (p.Ser780=) rs199599147 0.00009
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673 0.00009
NM_013266.4(CTNNA3):c.399G>A (p.Thr133=) rs150376558 0.00009
NM_014391.3(ANKRD1):c.750+17G>A rs373898620 0.00009
NM_015102.5(NPHP4):c.1764-5C>T rs370899989 0.00009
NM_016032.4(ZDHHC9):c.674+9C>T rs376385410 0.00009
NM_017777.4(MKS1):c.516-10T>C rs375046501 0.00009
NM_018055.5(NODAL):c.586C>T (p.Leu196Phe) rs200445211 0.00009
NM_022114.4(PRDM16):c.3301G>A (p.Val1101Met) rs201654872 0.00009
NM_024334.3(TMEM43):c.442+12G>C rs530183718 0.00009
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met) rs104894705 0.00009
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) rs121908121 0.00009
NM_032119.4(ADGRV1):c.14373T>A (p.Ala4791=) rs375062187 0.00009
NM_032119.4(ADGRV1):c.16079-11C>G rs374007277 0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_144573.4(NEXN):c.1435C>T (p.Leu479Phe) rs181520023 0.00009
NM_000038.6(APC):c.573T>C (p.Tyr191=) rs185154886 0.00008
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 0.00008
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462 0.00008
NM_000377.3(WAS):c.264C>T (p.Tyr88=) rs150520117 0.00008
NM_000548.5(TSC2):c.4662+18G>A rs45517357 0.00008
NM_000726.5(CACNB4):c.771G>A (p.Thr257=) rs2293219 0.00008
NM_001134363.3(RBM20):c.1053C>T (p.Asp351=) rs192232825 0.00008
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=) rs587780445 0.00008
NM_001199397.3(NEK1):c.1080+4T>C rs757527637 0.00008
NM_001458.5(FLNC):c.6988G>A (p.Gly2330Ser) rs527248119 0.00008
NM_002230.4(JUP):c.475G>T (p.Val159Leu) rs782702266 0.00008
NM_004519.4(KCNQ3):c.1935A>G (p.Gln645=) rs587781011 0.00008
NM_005477.3(HCN4):c.3531G>T (p.Gly1177=) rs375911378 0.00008
NM_007294.4(BRCA1):c.4644G>A (p.Thr1548=) rs28897692 0.00008
NM_016122.3(CEP83):c.625C>T (p.Arg209Ter) rs369483167 0.00008
NM_017780.4(CHD7):c.3778+17C>T rs111863846 0.00008
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880 0.00008
NM_024334.3(TMEM43):c.798G>A (p.Arg266=) rs139078900 0.00008
NM_025132.4(WDR19):c.2454C>T (p.Ala818=) rs748535483 0.00008
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00007
NM_000117.3(EMD):c.400-9C>T rs782061626 0.00007
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00007
NM_000169.3(GLA):c.945C>T (p.Asp315=) rs151208856 0.00007
NM_000238.4(KCNH2):c.2376C>T (p.Gly792=) rs745993706 0.00007
NM_000256.3(MYBPC3):c.132C>T (p.Arg44=) rs377579620 0.00007
NM_000256.3(MYBPC3):c.2196C>T (p.Asp732=) rs397515955 0.00007
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His) rs374255381 0.00007
NM_000276.4(OCRL):c.152A>G (p.His51Arg) rs764804719 0.00007
NM_000335.5(SCN5A):c.1842A>G (p.Pro614=) rs766696979 0.00007
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625 0.00007
NM_001009944.3(PKD1):c.11577G>T (p.Pro3859=) rs374609310 0.00007
NM_001009944.3(PKD1):c.5772C>T (p.Gly1924=) rs541661201 0.00007
NM_001017420.3(ESCO2):c.1132-7A>G rs80359862 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_001127649.3(PEX26):c.292C>T (p.Arg98Trp) rs62641228 0.00007
NM_001134363.3(RBM20):c.3451+14A>G rs774391134 0.00007
NM_001243133.2(NLRP3):c.1044G>A (p.Thr348=) rs143140947 0.00007
NM_001267550.2(TTN):c.102984C>T (p.Asp34328=) rs541125667 0.00007
NM_001267550.2(TTN):c.70833G>A (p.Ala23611=) rs377220635 0.00007
NM_001267550.2(TTN):c.71452A>G (p.Ile23818Val) rs776911847 0.00007
NM_001370259.2(MEN1):c.1185+12G>A rs373609932 0.00007
NM_001458.5(FLNC):c.1886G>A (p.Arg629Gln) rs765173966 0.00007
NM_002230.4(JUP):c.1774-6C>T rs375016135 0.00007
NM_002471.4(MYH6):c.3118C>T (p.Leu1040=) rs368497504 0.00007
NM_002769.5(PRSS1):c.542G>A (p.Ser181Asn) rs201719096 0.00007
NM_004006.3(DMD):c.9093C>T (p.Val3031=) rs72466563 0.00007
NM_004958.4(MTOR):c.1566C>T (p.Tyr522=) rs369221365 0.00007
NM_005120.3(MED12):c.1167G>A (p.Lys389=) rs374324656 0.00007
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln) rs544657165 0.00007
NM_017617.5(NOTCH1):c.2014+16C>T rs199814619 0.00007
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter) rs201850378 0.00007
NM_020774.4(MIB1):c.376C>T (p.Arg126Ter) rs190657514 0.00007
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly) rs199473678 0.00007
NM_032119.4(ADGRV1):c.6174A>T (p.Ile2058=) rs370197017 0.00007
NM_032578.4(MYPN):c.660G>A (p.Arg220=) rs372218308 0.00007
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935 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_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) rs200909606 0.00006
NM_000117.3(EMD):c.454C>T (p.Arg152Cys) rs376456050 0.00006
NM_000138.5(FBN1):c.8310C>T (p.His2770=) rs112189340 0.00006
NM_000179.3(MSH6):c.643G>A (p.Val215Ile) rs145959653 0.00006
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00006
NM_000256.3(MYBPC3):c.1720C>A (p.Arg574=) rs61897383 0.00006
NM_000285.4(PEPD):c.1125C>T (p.Asp375=) rs752440638 0.00006
NM_000337.6(SGCD):c.295-20C>A rs144250417 0.00006
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu) rs118203553 0.00006
NM_000722.4(CACNA2D1):c.3218T>C (p.Ile1073Thr) rs146250893 0.00006
NM_001002029.4(C4B):c.2719A>G (p.Thr907Ala) rs796750528 0.00006
NM_001035.3(RYR2):c.14808+17A>C rs368520821 0.00006
NM_001035.3(RYR2):c.1612+13A>G rs368200572 0.00006
NM_001105206.3(LAMA4):c.2232G>A (p.Thr744=) rs145489423 0.00006
NM_001127255.2(NLRP7):c.531C>T (p.His177=) rs746150420 0.00006
NM_001148.6(ANK2):c.6143A>G (p.Gln2048Arg) rs201628725 0.00006
NM_001261826.3(AP3D1):c.3285C>T (p.His1095=) rs773829362 0.00006
NM_001267550.2(TTN):c.59474G>C (p.Arg19825Thr) rs376465623 0.00006
NM_001267550.2(TTN):c.64673-5T>C rs530496528 0.00006
NM_001267550.2(TTN):c.65389T>G (p.Cys21797Gly) rs375830234 0.00006
NM_001267550.2(TTN):c.76566_76568dup (p.Arg25523dup) rs772268958 0.00006
NM_001267550.2(TTN):c.86463A>G (p.Gly28821=) rs368268066 0.00006
NM_001267550.2(TTN):c.93444C>T (p.Tyr31148=) rs561739832 0.00006
NM_001267550.2(TTN):c.97643G>A (p.Arg32548His) rs55676195 0.00006
NM_001458.5(FLNC):c.2490C>T (p.Thr830=) rs777580254 0.00006
NM_001943.5(DSG2):c.1643G>A (p.Arg548His) rs551034751 0.00006
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys) rs531732438 0.00006
NM_002471.4(MYH6):c.3177C>T (p.Gly1059=) rs529676901 0.00006
NM_002471.4(MYH6):c.5292C>T (p.Ala1764=) rs753745013 0.00006
NM_002474.3(MYH11):c.5614-7G>A rs202120792 0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_003482.4(KMT2D):c.4392C>A (p.Val1464=) rs758265897 0.00006
NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=) rs143063879 0.00006
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter) rs386833808 0.00006
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895 0.00006
NM_005751.5(AKAP9):c.3793G>A (p.Glu1265Lys) rs1424485718 0.00006
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=) rs372002119 0.00006
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00006
NM_007294.4(BRCA1):c.2522G>A (p.Arg841Gln) rs80357337 0.00006
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691 0.00006
NM_012431.3(SEMA3E):c.479C>T (p.Ser160Leu) rs142392597 0.00006
NM_014000.3(VCL):c.2349G>A (p.Val783=) rs558040780 0.00006
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser) rs775057827 0.00006
NM_017837.4(PIGV):c.439C>T (p.Gln147Ter) rs185641230 0.00006
NM_020297.4(ABCC9):c.4512+711G>A rs72559751 0.00006
NM_025009.5(CEP135):c.874C>T (p.Arg292Ter) rs752140135 0.00006
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403 0.00006
NM_175875.5(SIX5):c.1498G>A (p.Gly500Arg) rs766460655 0.00006
NM_000051.4(ATM):c.3577-13T>C rs587780856 0.00005
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 0.00005
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=) rs199879914 0.00005
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932 0.00005
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His) rs80359105 0.00005
NM_000090.4(COL3A1):c.1188C>T (p.Gly396=) rs745743884 0.00005
NM_000091.5(COL4A3):c.934-6C>A rs369438839 0.00005
NM_000188.3(HK1):c.1265+19A>G rs560638858 0.00005
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=) rs201572666 0.00005
NM_000256.3(MYBPC3):c.1224-80G>A rs1025692267 0.00005
NM_000256.3(MYBPC3):c.1494C>G (p.Thr498=) rs397515906 0.00005
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_000439.5(PCSK1):c.1764G>A (p.Lys588=) rs538803955 0.00005
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met) rs200289457 0.00005
NM_001040151.2(SCN3B):c.570A>G (p.Ala190=) rs575419664 0.00005
NM_001042432.2(CLN3):c.222T>C (p.His74=) rs201225986 0.00005
NM_001083116.3(PRF1):c.666C>A (p.His222Gln) rs751247865 0.00005
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) rs34803727 0.00005
NM_001134363.3(RBM20):c.2017C>T (p.Arg673Trp) rs397516599 0.00005
NM_001243133.2(NLRP3):c.207C>T (p.Ala69=) rs200082602 0.00005
NM_001267550.2(TTN):c.3380+9A>G rs770149480 0.00005
NM_001267550.2(TTN):c.3514C>A (p.Leu1172Ile) rs375735354 0.00005
NM_001267550.2(TTN):c.46489G>T (p.Val15497Phe) rs371299188 0.00005
NM_001267550.2(TTN):c.49649-11T>C rs727504474 0.00005
NM_001267550.2(TTN):c.49704A>G (p.Val16568=) rs565691537 0.00005
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile) rs190574498 0.00005
NM_001267550.2(TTN):c.54811+10C>T rs796651993 0.00005
NM_001267550.2(TTN):c.57112-14T>C rs777473081 0.00005
NM_001267550.2(TTN):c.73491T>C (p.Tyr24497=) rs545377175 0.00005
NM_001267550.2(TTN):c.82486G>A (p.Asp27496Asn) rs554231442 0.00005
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=) rs375565646 0.00005
NM_001267550.2(TTN):c.89520C>T (p.Asp29840=) rs746569192 0.00005
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val) rs727503538 0.00005
NM_001291303.3(FAT4):c.9163C>A (p.Gln3055Lys) rs199778782 0.00005
NM_001323289.2(CDKL5):c.100-7C>T rs752279222 0.00005
NM_001458.5(FLNC):c.2292C>T (p.Pro764=) rs369916201 0.00005
NM_001458.5(FLNC):c.6864C>T (p.Val2288=) rs761269440 0.00005
NM_002230.4(JUP):c.460G>A (p.Glu154Lys) rs782765314 0.00005
NM_002471.4(MYH6):c.5427A>C (p.Gly1809=) rs149294569 0.00005
NM_002474.3(MYH11):c.5176G>A (p.Ala1726Thr) rs376154041 0.00005
NM_003737.4(DCHS1):c.4608C>T (p.Val1536=) rs769958055 0.00005
NM_004415.4(DSP):c.2437-20T>G rs778134276 0.00005
NM_004483.5(GCSH):c.84G>A (p.Pro28=) rs775381594 0.00005
NM_004484.4(GPC3):c.168C>G (p.Pro56=) rs188592483 0.00005
NM_004958.4(MTOR):c.5812-19G>A rs374670621 0.00005
NM_005120.3(MED12):c.3797G>A (p.Arg1266His) rs587780391 0.00005
NM_005188.4(CBL):c.2262T>G (p.Asn754Lys) rs148139669 0.00005
NM_005956.4(MTHFD1):c.1128-10C>T rs377181293 0.00005
NM_006231.4(POLE):c.5253C>T (p.Ala1751=) rs765888059 0.00005
NM_007078.3(LDB3):c.992C>T (p.Ala331Val) rs368053281 0.00005
NM_014000.3(VCL):c.528C>T (p.Asp176=) rs746453891 0.00005
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu) rs140781535 0.00005
NM_016203.4(PRKAG2):c.147C>T (p.Asp49=) rs761196275 0.00005
NM_016203.4(PRKAG2):c.1659C>T (p.Ala553=) rs374476363 0.00005
NM_024411.5(PDYN):c.74G>A (p.Arg25Gln) rs369559888 0.00005
NM_025137.4(SPG11):c.23C>G (p.Ala8Gly) rs200939573 0.00005
NM_000051.4(ATM):c.2610C>T (p.Asn870=) rs587780618 0.00004
NM_000081.4(LYST):c.9804A>G (p.Pro3268=) rs368740409 0.00004
NM_000116.5(TAFAZZIN):c.371-6C>A rs782195445 0.00004
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_000249.4(MLH1):c.1269G>A (p.Arg423=) rs373076967 0.00004
NM_000256.3(MYBPC3):c.150C>T (p.Ser50=) rs368918487 0.00004
NM_000256.3(MYBPC3):c.540C>T (p.Gly180=) rs371842442 0.00004
NM_000257.4(MYH7):c.1405G>A (p.Asp469Asn) rs397516106 0.00004
NM_000257.4(MYH7):c.3993C>T (p.His1331=) rs200288088 0.00004
NM_000257.4(MYH7):c.4083T>G (p.Leu1361=) rs754295295 0.00004
NM_000257.4(MYH7):c.4827C>T (p.Asn1609=) rs587781085 0.00004
NM_000257.4(MYH7):c.5253T>C (p.Ala1751=) rs776282574 0.00004
NM_000277.3(PAH):c.842+1G>A rs5030852 0.00004
NM_000335.5(SCN5A):c.3080G>A (p.Arg1027Gln) rs763891399 0.00004
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp) rs549319429 0.00004
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000432.4(MYL2):c.403-1G>C rs199474813 0.00004
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458 0.00004
NM_000719.7(CACNA1C):c.3567C>T (p.Cys1189=) rs202058956 0.00004
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=) rs529442984 0.00004
NM_001005242.3(PKP2):c.2019G>A (p.Pro673=) rs147995773 0.00004
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr) rs141438322 0.00004
NM_001032283.3(TMPO):c.280-8G>A rs943754313 0.00004
NM_001035.3(RYR2):c.4160+7A>G rs377465289 0.00004
NM_001042432.2(CLN3):c.516C>T (p.Leu172=) rs148846795 0.00004
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) rs61751445 0.00004
NM_001134363.3(RBM20):c.3344C>T (p.Ser1115Phe) rs769531546 0.00004
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His) rs757918924 0.00004
NM_001267550.2(TTN):c.24227-15C>T rs397517505 0.00004
NM_001267550.2(TTN):c.46697-19_46697-18del rs530484268 0.00004
NM_001267550.2(TTN):c.85308C>T (p.Ala28436=) rs765611726 0.00004
NM_001267550.2(TTN):c.96390G>A (p.Thr32130=) rs200999706 0.00004
NM_001276345.2(TNNT2):c.52+13G>A rs376820377 0.00004
NM_001289808.2(CRYAB):c.60C>T (p.Pro20=) rs4252582 0.00004
NM_001378454.1(ALMS1):c.6458A>G (p.Gln2153Arg) rs534635095 0.00004
NM_001384732.1(CPLANE1):c.662T>C (p.Val221Ala) rs370118778 0.00004
NM_001458.5(FLNC):c.7609G>A (p.Ala2537Thr) rs201486752 0.00004
NM_001943.5(DSG2):c.2906C>T (p.Ala969Val) rs373598034 0.00004
NM_001943.5(DSG2):c.390C>T (p.Tyr130=) rs369489095 0.00004
NM_002335.4(LRP5):c.91+9G>C rs569517144 0.00004
NM_002471.4(MYH6):c.3860-15T>G rs200883903 0.00004
NM_003119.4(SPG7):c.861+2dup rs771256761 0.00004
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395 0.00004
NM_004211.5(SLC6A5):c.2114A>G (p.Tyr705Cys) rs143918578 0.00004
NM_005051.3(QARS1):c.1542A>G (p.Pro514=) rs370232570 0.00004
NM_005359.6(SMAD4):c.228A>G (p.Arg76=) rs587780556 0.00004
NM_007078.3(LDB3):c.944C>T (p.Pro315Leu) rs371649487 0.00004
NM_007294.4(BRCA1):c.75C>T (p.Pro25=) rs80356839 0.00004
NM_012186.3(FOXE3):c.334C>T (p.Pro112Ser) rs745571457 0.00004
NM_014000.3(VCL):c.1177-14G>A rs778137720 0.00004
NM_016203.4(PRKAG2):c.981A>G (p.Leu327=) rs764162597 0.00004
NM_016464.5(TMEM138):c.387G>A (p.Leu129=) rs553815473 0.00004
NM_017617.5(NOTCH1):c.5168-4G>A rs751709616 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_024334.3(TMEM43):c.121A>G (p.Met41Val) rs144334386 0.00004
NM_024426.6(WT1):c.513C>A (p.Gly171=) rs536728682 0.00004
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu) rs62625272 0.00004
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978 0.00004
NM_033118.4(MYLK2):c.417C>T (p.Ala139=) rs560951755 0.00004
NM_033337.3(CAV3):c.201C>A (p.Val67=) rs201593267 0.00004
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile) rs375937729 0.00004
NM_152274.5(CCNQ):c.501C>T (p.Ala167=) rs782615471 0.00004
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys) rs374726751 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_000051.4(ATM):c.1661C>T (p.Thr554Met) rs1060501694 0.00003
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=) rs570594838 0.00003
NM_000059.4(BRCA2):c.3254A>G (p.His1085Arg) rs80358570 0.00003
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp) rs28897722 0.00003
NM_000059.4(BRCA2):c.8134G>A (p.Asp2712Asn) rs80359056 0.00003
NM_000064.4(C3):c.4520G>A (p.Arg1507His) rs551187980 0.00003
NM_000085.5(CLCNKB):c.968+1G>A rs201204502 0.00003
NM_000117.3(EMD):c.276C>T (p.Asp92=) rs782680849 0.00003
NM_000132.4(F8):c.733C>T (p.Arg245Trp) rs781943956 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039 0.00003
NM_000179.3(MSH6):c.1049C>T (p.Ala350Val) rs587782331 0.00003
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00003
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly) rs373164247 0.00003
NM_000257.4(MYH7):c.354G>A (p.Ser118=) rs368925624 0.00003
NM_000257.4(MYH7):c.3682C>T (p.Leu1228=) rs560995739 0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260 0.00003
NM_000286.3(PEX12):c.126+1G>T rs144259891 0.00003
NM_000298.6(PKLR):c.401T>A (p.Val134Asp) rs574051756 0.00003
NM_000335.5(SCN5A):c.2253C>T (p.Val751=) rs371649934 0.00003
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=) rs561922849 0.00003
NM_000371.4(TTR):c.70-9T>C rs764059061 0.00003
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00003
NM_001035.3(RYR2):c.12207T>C (p.Cys4069=) rs756280887 0.00003
NM_001035.3(RYR2):c.14152-15G>A rs371785571 0.00003
NM_001065.4(TNFRSF1A):c.1038C>G (p.His346Gln) rs201994938 0.00003
NM_001105206.3(LAMA4):c.874G>A (p.Glu292Lys) rs781838464 0.00003
NM_001110556.2(FLNA):c.5160C>T (p.Tyr1720=) rs782152127 0.00003
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg) rs374163823 0.00003
NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro) rs568513106 0.00003
NM_001134363.3(RBM20):c.2358C>T (p.Asp786=) rs1045844360 0.00003
NM_001159699.2(FHL1):c.792C>T (p.Tyr264=) rs755385158 0.00003
NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys) rs200325324 0.00003
NM_001267550.2(TTN):c.30444G>A (p.Ser10148=) rs367901929 0.00003
NM_001267550.2(TTN):c.4274C>T (p.Ala1425Val) rs746063269 0.00003
NM_001267550.2(TTN):c.50355-15T>C rs757425897 0.00003
NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val) rs373815064 0.00003
NM_001267550.2(TTN):c.5741C>T (p.Ala1914Val) rs374203813 0.00003
NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly) rs727504490 0.00003
NM_001267550.2(TTN):c.75997G>A (p.Gly25333Ser) rs757343393 0.00003
NM_001267550.2(TTN):c.87815A>G (p.Tyr29272Cys) rs886039083 0.00003
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn) rs56208331 0.00003
NM_001329943.3(KIAA0586):c.2536del (p.Val846fs) rs1307758243 0.00003
NM_001330588.2(TPP2):c.495+4G>C rs376579048 0.00003
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile) rs121909767 0.00003
NM_001367721.1(CASK):c.1686T>C (p.Ser562=) rs758121698 0.00003
NM_001375808.2(LPIN2):c.2316C>T (p.Ser772=) rs145270447 0.00003
NM_001378454.1(ALMS1):c.11283C>T (p.Val3761=) rs183916999 0.00003
NM_001458.5(FLNC):c.5273G>A (p.Arg1758Gln) rs573984029 0.00003
NM_001458.5(FLNC):c.602-16T>A rs1236096502 0.00003
NM_001943.5(DSG2):c.2340G>T (p.Ala780=) rs375539435 0.00003
NM_002230.4(JUP):c.335A>G (p.Asn112Ser) rs372364561 0.00003
NM_002474.3(MYH11):c.1575+7G>A rs754750176 0.00003
NM_002667.5(PLN):c.26G>A (p.Arg9His) rs754782171 0.00003
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser) rs751437780 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_003042.4(SLC6A1):c.582G>A (p.Glu194=) rs372085480 0.00003
NM_003052.5(SLC34A1):c.1006+1G>A rs200095793 0.00003
NM_003098.3(SNTA1):c.114C>T (p.Asp38=) rs780018849 0.00003
NM_004006.3(DMD):c.6614+7C>T rs180719577 0.00003
NM_004281.4(BAG3):c.483G>A (p.Gln161=) rs758279156 0.00003
NM_004415.4(DSP):c.1903+4G>A rs757726608 0.00003
NM_004415.4(DSP):c.1904-17C>G rs370715047 0.00003
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met) rs535202724 0.00003
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426 0.00003
NM_004958.4(MTOR):c.1500T>C (p.Asp500=) rs533405069 0.00003
NM_005097.4(LGI1):c.744G>A (p.Glu248=) rs199916185 0.00003
NM_005159.5(ACTC1):c.617-7T>C rs750536667 0.00003
NM_005572.4(LMNA):c.1712G>A (p.Arg571His) rs200917748 0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_005751.5(AKAP9):c.4872A>G (p.Glu1624=) rs570384292 0.00003
NM_007254.4(PNKP):c.817-12C>T rs369567366 0.00003
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val) rs80356740 0.00003
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884 0.00003
NM_018941.4(CLN8):c.470A>G (p.His157Arg) rs149308952 0.00003
NM_020297.4(ABCC9):c.1416T>C (p.Phe472=) rs777308898 0.00003
NM_020774.4(MIB1):c.138G>A (p.Glu46=) rs376396687 0.00003
NM_024422.6(DSC2):c.870A>G (p.Pro290=) rs142653119 0.00003
NM_025137.4(SPG11):c.6953G>A (p.Arg2318His) rs768408465 0.00003
NM_144573.4(NEXN):c.249G>A (p.Glu83=) rs372532824 0.00003
NM_152564.5(VPS13B):c.5761A>G (p.Thr1921Ala) rs112749780 0.00003
NM_207361.6(FREM2):c.1250T>C (p.Leu417Pro) rs571694324 0.00003
NM_000038.6(APC):c.835-3T>C rs372090940 0.00002
NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg) rs80358466 0.00002
NM_000059.4(BRCA2):c.2459A>G (p.Asp820Gly) rs80358511 0.00002
NM_000059.4(BRCA2):c.5644T>C (p.Ser1882Pro) rs730881538 0.00002
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980 0.00002
NM_000059.4(BRCA2):c.794-11T>C rs81002822 0.00002
NM_000059.4(BRCA2):c.8331+16C>G rs730881595 0.00002
NM_000059.4(BRCA2):c.9234C>T (p.Val3078=) rs587782428 0.00002
NM_000219.6(KCNE1):c.174C>G (p.Thr58=) rs727503101 0.00002
NM_000238.4(KCNH2):c.1558-6C>T rs777107971 0.00002
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534 0.00002
NM_000256.3(MYBPC3):c.2112C>T (p.Asp704=) rs547477069 0.00002
NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=) rs727503181 0.00002
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958 0.00002
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=) rs200728597 0.00002
NM_000335.5(SCN5A):c.1308G>A (p.Glu436=) rs555224775 0.00002
NM_000335.5(SCN5A):c.3732G>A (p.Met1244Ile) rs753677814 0.00002
NM_000363.5(TNNI3):c.543C>T (p.Thr181=) rs926550445 0.00002
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr) rs146407179 0.00002
NM_001005242.3(PKP2):c.1379-1972G>A rs779392697 0.00002
NM_001037.5(SCN1B):c.546C>T (p.Tyr182=) rs775659068 0.00002
NM_001042432.2(CLN3):c.240G>A (p.Thr80=) rs373911322 0.00002
NM_001101362.3(KBTBD13):c.251G>C (p.Cys84Ser) rs999785767 0.00002
NM_001105206.3(LAMA4):c.815-13G>A rs372004668 0.00002
NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser) rs781993685 0.00002
NM_001127222.2(CACNA1A):c.6013G>A (p.Ala2005Thr) rs374063403 0.00002
NM_001127222.2(CACNA1A):c.7052G>A (p.Gly2351Glu) rs1442777428 0.00002
NM_001195518.2(MICU1):c.735+1G>A rs369915689 0.00002
NM_001267550.2(TTN):c.105562A>C (p.Ile35188Leu) rs727504491 0.00002
NM_001267550.2(TTN):c.1851A>C (p.Thr617=) rs727504530 0.00002
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His) rs761402128 0.00002
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00002
NM_001267550.2(TTN):c.49570C>T (p.Arg16524Cys) rs779336886 0.00002
NM_001267550.2(TTN):c.57405A>G (p.Gln19135=) rs773605848 0.00002
NM_001267550.2(TTN):c.69554G>A (p.Arg23185Gln) rs201448988 0.00002
NM_001267550.2(TTN):c.732C>T (p.Ala244=) rs761859812 0.00002
NM_001267550.2(TTN):c.7331-11T>C rs1198109375 0.00002
NM_001267550.2(TTN):c.75745C>T (p.Arg25249Cys) rs397517702 0.00002
NM_001276345.2(TNNT2):c.282A>G (p.Arg94=) rs397516453 0.00002
NM_001289808.2(CRYAB):c.516C>A (p.Ala172=) rs143500486 0.00002
NM_001367721.1(CASK):c.195C>T (p.Ile65=) rs769320891 0.00002
NM_002230.4(JUP):c.654G>A (p.Gly218=) rs112105828 0.00002
NM_002471.4(MYH6):c.3468C>T (p.Gly1156=) rs545420992 0.00002
NM_002471.4(MYH6):c.4059A>G (p.Thr1353=) rs780653498 0.00002
NM_003041.4(SLC5A2):c.1102C>T (p.Arg368Trp) rs148410166 0.00002
NM_003183.6(ADAM17):c.2346C>T (p.Phe782=) rs201360504 0.00002
NM_004006.3(DMD):c.1945C>T (p.Arg649Trp) rs770572107 0.00002
NM_004006.3(DMD):c.6072T>C (p.Cys2024=) rs373804251 0.00002
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=) rs372440854 0.00002
NM_004415.4(DSP):c.3729A>G (p.Ser1243=) rs150241609 0.00002
NM_004484.4(GPC3):c.485A>G (p.Asn162Ser) rs780431445 0.00002
NM_005477.3(HCN4):c.1818C>T (p.Ser606=) rs1247778865 0.00002
NM_005633.4(SOS1):c.2996A>G (p.Asn999Ser) rs765070830 0.00002
NM_007294.4(BRCA1):c.5074+6C>G rs80358032 0.00002
NM_014141.6(CNTNAP2):c.1603G>A (p.Glu535Lys) rs76475298 0.00002
NM_014639.4(SKIC3):c.2369C>T (p.Ala790Val) rs750530127 0.00002
NM_015102.5(NPHP4):c.578C>T (p.Pro193Leu) rs779760001 0.00002
NM_017617.5(NOTCH1):c.1801G>A (p.Glu601Lys) rs749381544 0.00002
NM_017780.4(CHD7):c.6446G>T (p.Gly2149Val) rs369433978 0.00002
NM_020297.4(ABCC9):c.3331T>C (p.Leu1111=) rs764155671 0.00002
NM_020774.4(MIB1):c.1372-12T>A rs772089721 0.00002
NM_024422.6(DSC2):c.943-1G>A rs796756333 0.00002
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643 0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641 0.00002
NM_030787.4(CFHR5):c.1029G>A (p.Lys343=) rs555221057 0.00002
NM_031407.7(HUWE1):c.754G>A (p.Asp252Asn) rs782531338 0.00002
NM_144573.4(NEXN):c.1368A>C (p.Gly456=) rs397517845 0.00002
NC_000011.10:g.47335082_47335083del rs397515990 0.00001
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln) rs752850609 0.00001
NM_000053.4(ATP7B):c.51+4A>T rs369488210 0.00001
NM_000059.4(BRCA2):c.3330A>C (p.Glu1110Asp) rs369294255 0.00001
NM_000059.4(BRCA2):c.5390C>G (p.Ala1797Gly) rs80358760 0.00001
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815 0.00001
NM_000059.4(BRCA2):c.67+4T>C rs373546450 0.00001
NM_000059.4(BRCA2):c.7232A>C (p.Lys2411Thr) rs80358950 0.00001
NM_000059.4(BRCA2):c.7977-14G>A rs879255467 0.00001
NM_000059.4(BRCA2):c.8103T>G (p.Ser2701=) rs80359801 0.00001
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) rs41293511 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_000059.4(BRCA2):c.927A>G (p.Ser309=) rs80359806 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976 0.00001
NM_000081.4(LYST):c.6216A>G (p.Val2072=) rs371248013 0.00001
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg) rs200672668 0.00001
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln) rs1490417405 0.00001
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00001
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304 0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met) rs386833587 0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_000238.4(KCNH2):c.473-6C>T rs751673669 0.00001
NM_000256.3(MYBPC3):c.2013C>T (p.Val671=) rs1168755518 0.00001
NM_000257.4(MYH7):c.2727C>A (p.Ile909=) rs377722048 0.00001
NM_000257.4(MYH7):c.3408C>T (p.Arg1136=) rs947702752 0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000257.4(MYH7):c.640-18C>T rs776778917 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 0.00001
NM_000257.4(MYH7):c.896-17C>T rs569428750 0.00001
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336 0.00001
NM_000277.3(PAH):c.937G>A (p.Ala313Thr) rs62642912 0.00001
NM_000277.3(PAH):c.941C>A (p.Pro314His) rs62642940 0.00001
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly) rs80338704 0.00001
NM_000335.5(SCN5A):c.3388-3T>C rs949932623 0.00001
NM_000335.5(SCN5A):c.481G>A (p.Glu161Lys) rs199473062 0.00001
NM_000335.5(SCN5A):c.5664C>T (p.Tyr1888=) rs1438433663 0.00001
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) rs104894724 0.00001
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155 0.00001
NM_000431.4(MVK):c.500C>T (p.Pro167Leu) rs104895300 0.00001
NM_000434.4(NEU1):c.679G>A (p.Gly227Arg) rs769765227 0.00001
NM_000443.4(ABCB4):c.1938T>C (p.Asp646=) rs553616378 0.00001
NM_000481.4(AMT):c.889C>T (p.Arg297Ter) rs766422988 0.00001
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) rs74315479 0.00001
NM_000540.3(RYR1):c.15021G>C (p.Gln5007His) rs376293495 0.00001
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg) rs565825739 0.00001
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile) rs61750069 0.00001
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) rs730880056 0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) rs201346271 0.00001
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825 0.00001
NM_001035.3(RYR2):c.4755C>T (p.Arg1585=) rs768562077 0.00001
NM_001042492.3(NF1):c.7623G>A (p.Arg2541=) rs876660737 0.00001
NM_001103.4(ACTN2):c.1256-13A>T rs778085872 0.00001
NM_001103.4(ACTN2):c.616-3C>T rs111464645 0.00001
NM_001105206.3(LAMA4):c.3311A>G (p.Asn1104Ser) rs542157463 0.00001
NM_001126108.2(SLC12A3):c.514T>C (p.Trp172Arg) rs757792232 0.00001
NM_001128840.3(CACNA1D):c.6393G>A (p.Gln2131=) rs200001131 0.00001
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln) rs267607001 0.00001
NM_001134363.3(RBM20):c.2272G>A (p.Gly758Ser) rs1371567866 0.00001
NM_001165963.4(SCN1A):c.1910C>T (p.Ala637Val) rs1266240114 0.00001
NM_001244008.2(KIF1A):c.3465+4C>T rs879064869 0.00001
NM_001267550.2(TTN):c.104082A>G (p.Ser34694=) rs1413571023 0.00001
NM_001267550.2(TTN):c.11605G>C (p.Val3869Leu) rs747929496 0.00001
NM_001267550.2(TTN):c.39128-16A>G rs769738352 0.00001
NM_001267550.2(TTN):c.55432+19G>A rs1213547538 0.00001
NM_001267550.2(TTN):c.68484del (p.Lys22828fs) rs1370805955 0.00001
NM_001267550.2(TTN):c.70854A>G (p.Glu23618=) rs768115158 0.00001
NM_001267550.2(TTN):c.7530A>G (p.Ser2510=) rs189187431 0.00001
NM_001267550.2(TTN):c.84225T>C (p.Ser28075=) rs753003337 0.00001
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) rs770038577 0.00001
NM_001267550.2(TTN):c.85646C>T (p.Thr28549Ile) rs774609232 0.00001
NM_001267550.2(TTN):c.92780T>A (p.Ile30927Lys) rs531432790 0.00001
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter) rs146572907 0.00001
NM_001267550.2(TTN):c.97192+6G>A rs367760700 0.00001
NM_001270508.2(TNFAIP3):c.2269C>A (p.Pro757Thr) rs771436999 0.00001
NM_001276345.2(TNNT2):c.144C>T (p.Thr48=) rs746492909 0.00001
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys) rs727504244 0.00001
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) rs397516456 0.00001
NM_001276345.2(TNNT2):c.431G>A (p.Arg144Gln) rs754037135 0.00001
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) rs727504247 0.00001
NM_001323289.2(CDKL5):c.1613C>T (p.Thr538Met) rs1413837885 0.00001
NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val) rs1298484645 0.00001
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter) rs749339938 0.00001
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) rs150974575 0.00001
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_001943.5(DSG2):c.145C>T (p.Arg49Cys) rs762526848 0.00001
NM_001943.5(DSG2):c.222T>C (p.His74=) rs367797047 0.00001
NM_001943.5(DSG2):c.3027A>G (p.Gln1009=) rs1383834116 0.00001
NM_002354.3(EPCAM):c.307G>A (p.Gly103Arg) rs1346393896 0.00001
NM_002474.3(MYH11):c.4365+9C>T rs571613839 0.00001
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) rs80338845 0.00001
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His) rs201397978 0.00001
NM_005751.5(AKAP9):c.7788G>A (p.Glu2596=) rs777561134 0.00001
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp) rs13447332 0.00001
NM_005912.3(MC4R):c.779C>A (p.Pro260Gln) rs1435358988 0.00001
NM_006642.5(SDCCAG8):c.93A>G (p.Gln31=) rs1280437925 0.00001
NM_007078.3(LDB3):c.2091C>T (p.Cys697=) rs571356142 0.00001
NM_007294.4(BRCA1):c.2758G>A (p.Val920Ile) rs80357361 0.00001
NM_007294.4(BRCA1):c.4314C>G (p.Ala1438=) rs80356856 0.00001
NM_007294.4(BRCA1):c.4342A>G (p.Ser1448Gly) rs80357486 0.00001
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_014000.3(VCL):c.3154-6C>T rs371257509 0.00001
NM_014000.3(VCL):c.875-5T>C rs1225977039 0.00001
NM_014055.4(IFT81):c.1617C>T (p.Leu539=) rs747127910 0.00001
NM_014391.3(ANKRD1):c.560C>T (p.Ser187Phe) rs397517251 0.00001
NM_017617.5(NOTCH1):c.4985G>A (p.Arg1662Gln) rs774808496 0.00001
NM_017837.4(PIGV):c.494C>A (p.Ala165Glu) rs376328153 0.00001
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009 0.00001
NM_020297.4(ABCC9):c.842G>A (p.Arg281Gln) rs753456211 0.00001
NM_020435.4(GJC2):c.1027G>T (p.Ala343Ser) rs1021631118 0.00001
NM_020778.5(ALPK3):c.3867C>T (p.Ser1289=) rs188837127 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_022788.5(P2RY12):c.772C>A (p.Pro258Thr) rs202099742 0.00001
NM_024334.3(TMEM43):c.1141G>A (p.Gly381Ser) rs767916602 0.00001
NM_024334.3(TMEM43):c.658C>T (p.Arg220Cys) rs562700595 0.00001
NM_024422.6(DSC2):c.2104T>C (p.Leu702=) rs753742489 0.00001
NM_024422.6(DSC2):c.2125+1del rs794728072 0.00001
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu) rs142103232 0.00001
NM_024675.4(PALB2):c.1697G>A (p.Arg566His) rs144617793 0.00001
NM_031844.3(HNRNPU):c.2193T>C (p.Asn731=) rs372228779 0.00001
NM_144573.4(NEXN):c.66T>C (p.Tyr22=) rs749182975 0.00001
NM_152384.3(BBS5):c.209-2A>G rs1477098739 0.00001
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_170707.4(LMNA):c.1728C>T (p.Pro576=) rs767783294 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter) rs767005321 0.00001
NM_198525.3(KIF7):c.2074C>G (p.Gln692Glu) rs565633539 0.00001
NM_207361.6(FREM2):c.5138A>G (p.Asp1713Gly) rs778728471 0.00001
NC_000011.10:g.47332110del rs727503166
NC_000011.10:g.47347499G>T rs371941585
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.423-4del rs730881230
NM_000043.6(FAS):c.749G>A (p.Arg250Gln) rs121913080
NM_000044.6(AR):c.171GCA[20] (p.Gln78_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[21] (p.Gln79_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[24] (p.Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[25] (p.Gln79_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[26] (p.Gln78_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[29] (p.Gln75_Gln80dup) rs3032358
NM_000049.4(ASPA):c.693C>T (p.Tyr231=) rs12948217
NM_000051.4(ATM):c.1380G>C (p.Thr460=) rs145333518
NM_000051.4(ATM):c.3285-9del rs1799757
NM_000051.4(ATM):c.3403-13dup rs3218681
NM_000051.4(ATM):c.497-4dup rs768748099
NM_000051.4(ATM):c.6347+31del rs58978479
NM_000051.4(ATM):c.8988-1G>A rs730881386
NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys) rs104894760
NM_000059.4(BRCA2):c.-39-2A>G rs1555280053
NM_000059.4(BRCA2):c.1909+22del rs276174816
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.4(BRCA2):c.476-9dup rs276174849
NM_000059.4(BRCA2):c.5281G>T (p.Gly1761Ter) rs886038122
NM_000059.4(BRCA2):c.5411T>C (p.Val1804Ala) rs370252983
NM_000059.4(BRCA2):c.68-7dup rs276174878
NM_000059.4(BRCA2):c.6841+80_6841+83del rs11571661
NM_000059.4(BRCA2):c.7051G>T (p.Ala2351Ser) rs80358930
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter) rs80359046
NM_000059.4(BRCA2):c.8487+47C>T rs11571744
NM_000059.4(BRCA2):c.8754+5G>A rs81002813
NM_000064.4(C3):c.4350+6G>C rs369993135
NM_000064.4(C3):c.4645C>A (p.Leu1549Met) rs149202905
NM_000065.5(C6):c.10C>T (p.Arg4Cys) rs150931891
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000081.4(LYST):c.11268-5del rs36014994
NM_000081.4(LYST):c.9785-21_9785-17del rs547173744
NM_000091.5(COL4A3):c.520G>T (p.Gly174Trp) rs1014839148
NM_000092.5(COL4A4):c.1848del (p.Pro617fs) rs2150476941
NM_000092.5(COL4A4):c.2174G>A (p.Gly725Asp) rs2150277040
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1390-18CT[3] rs863223441
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000093.5(COL5A1):c.67CTG[5] (p.Leu28del) rs773994971
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys) rs375968699
NM_000132.4(F8):c.1910A>G (p.Asn637Ser) rs2073315379
NM_000132.4(F8):c.5399G>A (p.Arg1800His) rs137852442
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His) rs376119827
NM_000143.4(FH):c.1237-50TC[20] rs144131869
NM_000143.4(FH):c.1237-50TC[23] rs144131869
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000165.5(GJA1):c.717G>A (p.Arg239=) rs57946868
NM_000166.6(GJB1):c.151T>C (p.Phe51Leu) rs876661269
NM_000169.3(GLA):c.956T>C (p.Ile319Thr) rs2147471929
NM_000170.3(GLDC):c.1055C>G (p.Thr352Arg) rs1554648060
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter) rs63750563
NM_000179.3(MSH6):c.4002-10del rs59056100
NM_000179.3(MSH6):c.4002-10dup rs59056100
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter) rs587779318
NM_000186.4(CFH):c.2783-3del rs748791414
NM_000186.4(CFH):c.3134-5T>C rs513699
NM_000194.3(HPRT1):c.319-7dup rs371480320
NM_000208.4(INSR):c.653-23TC[11] rs3835070
NM_000213.5(ITGB4):c.2009G>A (p.Arg670His) rs149659118
NM_000218.3(KCNQ1):c.1174T>C (p.Trp392Arg) rs199472774
NM_000218.3(KCNQ1):c.1320C>G (p.Val440=) rs781151116
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000249.4(MLH1):c.1039-8_1039-7insTA rs535965616
NM_000249.4(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000251.3(MSH2):c.942+28_942+29del rs11309117
NM_000251.3(MSH2):c.942+29del rs11309117
NM_000254.3(MTR):c.2474-5_2474-4dup rs546254033
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1696T>C (p.Cys566Arg) rs730880695
NM_000256.3(MYBPC3):c.1791-1G>A rs2142859427
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.558G>T (p.Pro186=) rs370962887
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1319T>C (p.Val440Ala) rs1244840759
NM_000257.4(MYH7):c.1578+13C>T rs1178580158
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2334C>G (p.Asp778Glu) rs2069544
NM_000257.4(MYH7):c.2783A>T (p.Asp928Val) rs727504558
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys) rs730880792
NM_000257.4(MYH7):c.495G>A (p.Met165Ile) rs1555338758
NM_000257.4(MYH7):c.5534G>A (p.Arg1845Gln) rs730880822
NM_000257.4(MYH7):c.5773C>G (p.Arg1925Gly) rs755706526
NM_000257.4(MYH7):c.689T>C (p.Phe230Ser) rs886038844
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg) rs2058768195
NM_000271.5(NPC1):c.1947+10G>A rs71534236
NM_000271.5(NPC1):c.1947+8_1947+10dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+11dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+9dup rs3837910
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000271.5(NPC1):c.2131-21dup rs11299077
NM_000291.4(PGK1):c.937-17dup rs782576397
NM_000297.4(PKD2):c.710-2A>G rs2110104722
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000310.4(PPT1):c.537-8del rs760997725
NM_000310.4(PPT1):c.627+4A>G rs572153728
NM_000314.8(PTEN):c.802-3del rs34003473
NM_000314.8(PTEN):c.802-4_802-3dup rs34003473
NM_000334.4(SCN4A):c.483-5C>A rs191547933
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.2320del (p.Tyr774fs) rs2125881165
NM_000335.5(SCN5A):c.327C>T (p.Asn109=) rs199473056
NM_000335.5(SCN5A):c.5123C>T (p.Thr1708Met) rs199473297
NM_000335.5(SCN5A):c.5225G>A (p.Gly1742Glu) rs199473629
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.5(SCN5A):c.726C>T (p.Ala242=) rs746812420
NM_000363.5(TNNI3):c.373-4C>T rs2288530
NM_000363.5(TNNI3):c.626A>C (p.Glu209Ala) rs730881083
NM_000371.4(TTR):c.337-14_337-11del rs112263266
NM_000381.4(MID1):c.661-7del rs375668839
NM_000381.4(MID1):c.661-7dup rs375668839
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520
NM_000391.4(TPP1):c.887-6del rs35039601
NM_000391.4(TPP1):c.887-8_887-6del rs35039601
NM_000417.3(IL2RA):c.76G>C (p.Asp26His) rs55868253
NM_000426.4(LAMA2):c.9212-15C>A rs55776770
NM_000431.4(MVK):c.925G>A (p.Gly309Ser) rs104895305
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp) rs13306575
NM_000443.4(ABCB4):c.1893G>C (p.Gln631His) rs1810212221
NM_000458.4(HNF1B):c.345-4C>T rs200590728
NM_000483.5(APOC2):c.195C>A (p.Pro65=) rs145771233
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000490.5(AVP):c.260C>A (p.Ser87Tyr) rs121964890
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000501.4(ELN):c.133+16C>A rs144223231
NM_000501.4(ELN):c.134-5C>A rs202142516
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) rs137854537
NM_000516.7(GNAS):c.432C>T (p.Pro144=) rs11554266
NM_000516.7(GNAS):c.531-13_531-10del rs576071932
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000528.4(MAN2B1):c.935C>A (p.Thr312Asn) rs1054487
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.706-4dup rs60794673
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.14731G>A (p.Glu4911Lys) rs886044196
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000551.4(VHL):c.358A>G (p.Arg120Gly) rs869025642
NM_000551.4(VHL):c.463+3A>G rs1131690954
NM_000551.4(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000552.5(VWF):c.1110-6dup rs534403271
NM_000552.5(VWF):c.4414G>C (p.Asp1472His) rs1800383
NM_000574.5(CD55):c.155G>C (p.Arg52Pro) rs28371588
NM_000702.4(ATP1A2):c.1652-7C>A rs200102433
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
NM_000722.4(CACNA2D1):c.3160-9del rs367960608
NM_000722.4(CACNA2D1):c.659-23CT[2] rs66474649
NM_000722.4(CACNA2D1):c.659-4_659-3del rs370103843
NM_000782.5(CYP24A1):c.469C>A (p.Arg157=) rs35873579
NM_000834.5(GRIN2B):c.2252T>C (p.Ile751Thr) rs876661055
NM_000939.4(POMC):c.394C>G (p.Pro132Ala) rs8192606
NM_001005242.3(PKP2):c.2168-11del rs746936605
NM_001005242.3(PKP2):c.2168-11dup rs746936605
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001006658.3(CR2):c.624C>A (p.Pro208=) rs61759494
NM_001007228.2(SPOP):c.412C>T (p.Arg138Cys) rs968974699
NM_001009944.3(PKD1):c.11316C>G (p.Ala3772=) rs201085734
NM_001009944.3(PKD1):c.4475G>C (p.Arg1492Pro) rs757055929
NM_001009944.3(PKD1):c.603C>T (p.His201=) rs13334842
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.8204A>T (p.Gln2735Leu) rs141717814
NM_001009944.3(PKD1):c.8932TTC[1] (p.Phe2979del) rs1358948221
NM_001010874.5(TECRL):c.552-13dup rs577970051
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_001035.3(RYR2):c.1293-14A>G rs752527636
NM_001035.3(RYR2):c.1395C>A (p.Pro465=) rs111990043
NM_001035.3(RYR2):c.14217del (p.Phe4739fs) rs749201569
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001035.3(RYR2):c.3599-9del rs11331089
NM_001035.3(RYR2):c.4597-11del rs3841805
NM_001037.5(SCN1B):c.522C>A (p.Leu174=) rs35478147
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln) rs111588143
NM_001040113.2(MYH11):c.5819C>G (p.Pro1940Arg) rs111588143
NM_001040142.2(SCN2A):c.2642T>C (p.Leu881Pro) rs796053116
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met) rs1057520413
NM_001040151.2(SCN3B):c.390G>A (p.Ala130=) rs148484744
NM_001042492.3(NF1):c.730+32dup rs71142032
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001080517.3(SETD5):c.3214C>T (p.Arg1072Ter) rs2045524028
NM_001080517.3(SETD5):c.3520C>T (p.Arg1174Ter) rs1559496157
NM_001081.4(CUBN):c.7346T>C (p.Met2449Thr) rs41301097
NM_001085377.2(MCC):c.71_72insGGCAGCAGC (p.Ser24delinsArgAlaAlaAla) rs2150439379
NM_001098668.4(SFTPA2):c.186G>A (p.Pro62=) rs2434114
NM_001099857.5(IKBKG):c.1219A>G (p.Met407Val) rs137853322
NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del) rs772766102
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del) rs750710267
NM_001099922.3(ALG13):c.2797CCT[14] (p.Pro945dup) rs56717389
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001103.4(ACTN2):c.1512A>G (p.Leu504=) rs2102934725
NM_001103.4(ACTN2):c.1975-6C>G rs201255023
NM_001105206.3(LAMA4):c.2475C>G (p.Thr825=) rs189313630
NM_001105206.3(LAMA4):c.85G>C (p.Asp29His) rs150662822
NM_001110556.2(FLNA):c.62_64dup (p.Val21dup) rs782721874
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) rs61753973
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001111125.3(IQSEC2):c.2278G>A (p.Gly760Ser) rs1556862958
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[2] (p.152APVA[2]) rs565544512
NM_001122630.2(CDKN1C):c.573GGCCCC[2] (p.186AP[8]) rs759134767
NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys) rs201311000
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup) rs768950814
NM_001127222.2(CACNA1A):c.6937CAG[11] (p.Gln2324_Gln2325del) rs16054
NM_001127222.2(CACNA1A):c.6937CAG[15] (p.Gln2324_Gln2325dup) rs16054
NM_001127222.2(CACNA1A):c.7440C>G (p.His2480Gln) rs539546830
NM_001127644.2(GABRA1):c.857-9del rs3214859
NM_001128164.2(ATXN1):c.636GCA[15] (p.Gln225dup) rs751421308
NM_001128840.3(CACNA1D):c.3279G>A (p.Ala1093=) rs36061665
NM_001130144.3(LTBP3):c.76CTG[11] (p.Leu35dup) rs71036212
NM_001130144.3(LTBP3):c.76CTG[13] (p.Leu33_Leu35dup) rs71036212
NM_001130144.3(LTBP3):c.76CTG[9] (p.Leu35del) rs71036212
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001130823.3(DNMT1):c.1044-9_1044-8del rs59599980
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3]) rs398123779
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu) rs61742872
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) rs34999029
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp) rs796734066
NM_001134363.3(RBM20):c.3262C>G (p.Pro1088Ala) rs969716149
NM_001134363.3(RBM20):c.3317-20C>T rs202039414
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_001142864.4(PIEZO1):c.4495+10_4495+14dup rs567560285
NM_001142864.4(PIEZO1):c.4969C>T (p.Pro1657Ser) rs763940836
NM_001142864.4(PIEZO1):c.5139C>T (p.Leu1713=) rs369279313
NM_001146.5(ANGPT1):c.228G>A (p.Pro76=) rs147086219
NM_001148.6(ANK2):c.5778G>A (p.Pro1926=) rs754030532
NM_001159699.2(FHL1):c.737-3del rs368428875
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup) rs572827902
NM_001164508.2(NEB):c.11077-20dup rs749915004
NM_001164508.2(NEB):c.14563T>C (p.Leu4855=) rs2288217
NM_001164508.2(NEB):c.17635-3dup rs3214503
NM_001164508.2(NEB):c.20467-4del rs10687343
NM_001164508.2(NEB):c.20467-6_20467-4dup rs10687343
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001165963.4(SCN1A):c.2044-5del rs549232924
NM_001165963.4(SCN1A):c.2177-11dup rs11394960
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001165963.4(SCN1A):c.4551A>G (p.Lys1517=) rs374087499
NM_001170629.2(CHD8):c.3562C>T (p.Arg1188Ter) rs1555314911
NM_001183.6(ATP6AP1):c.96GGC[9] (p.Ala40_Ala41dup) rs781797236
NM_001195248.2(APTX):c.484-3del rs373304582
NM_001195553.2(DCX):c.540G>T (p.Lys180Asn) rs1927758267
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
NM_001232.4(CASQ2):c.421-15C>G rs199939582
NM_001242896.3(DEPDC5):c.2055C>A (p.Phe685Leu) rs61731667
NM_001244008.2(KIF1A):c.2493G>T (p.Val831=) rs201861261
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.100766-10dup rs749872538
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter) rs1057518195
NM_001267550.2(TTN):c.103132C>T (p.Gln34378Ter) rs2154135182
NM_001267550.2(TTN):c.105428del (p.Gly35143fs) rs886042825
NM_001267550.2(TTN):c.12780G>T (p.Ala4260=) rs746578
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.23853C>A (p.Ala7951=) rs201766927
NM_001267550.2(TTN):c.2775+19G>T rs199707799
NM_001267550.2(TTN):c.32554+5_32554+6del rs771419718
NM_001267550.2(TTN):c.36949G>A (p.Ala12317Thr) rs1405466072
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg) rs72650066
NM_001267550.2(TTN):c.40222+2TA[10] rs10580462
NM_001267550.2(TTN):c.40222+2TA[12] rs10580462
NM_001267550.2(TTN):c.40634-15_40634-11del rs375561641
NM_001267550.2(TTN):c.41329+1G>T rs796238032
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.49263C>A (p.Tyr16421Ter) rs376188859
NM_001267550.2(TTN):c.52903C>T (p.Arg17635Ter) rs2154197219
NM_001267550.2(TTN):c.54812-14del rs770542364
NM_001267550.2(TTN):c.57847+7dup rs111496283
NM_001267550.2(TTN):c.58433-16dup rs758370659
NM_001267550.2(TTN):c.58433-7del rs758370659
NM_001267550.2(TTN):c.59926+1G>A rs553526525
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu) rs141142920
NM_001267550.2(TTN):c.63625C>T (p.Arg21209Ter) rs794729279
NM_001267550.2(TTN):c.63794-1G>A rs2049262622
NM_001267550.2(TTN):c.70560A>G (p.Pro23520=) rs759355651
NM_001267550.2(TTN):c.71000G>A (p.Trp23667Ter) rs865930770
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.71848_71855dup (p.Gly23953fs) rs1254650118
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del) rs543318580
NM_001267550.2(TTN):c.76739C>T (p.Thr25580Met) rs56372592
NM_001267550.2(TTN):c.77452G>T (p.Glu25818Ter) rs748619096
NM_001267550.2(TTN):c.79018G>T (p.Glu26340Ter) rs2154166071
NM_001267550.2(TTN):c.80530del (p.Ser26844fs) rs2154164929
NM_001267550.2(TTN):c.82255C>T (p.Gln27419Ter) rs2154161716
NM_001267550.2(TTN):c.82309_82312dup (p.Asn27438delinsArgTer) rs2154161683
NM_001267550.2(TTN):c.84524G>A (p.Trp28175Ter) rs2154159874
NM_001267550.2(TTN):c.85809del (p.Lys28603fs) rs796983799
NM_001267550.2(TTN):c.86640C>A (p.Tyr28880Ter) rs794729298
NM_001267550.2(TTN):c.86742_86745del (p.Tyr28915fs) rs1415420768
NM_001267550.2(TTN):c.8902+12_8902+13del rs774238749
NM_001267550.2(TTN):c.89314G>T (p.Glu29772Ter) rs200503016
NM_001267550.2(TTN):c.96180T>C (p.Ile32060=) rs572401798
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_001267550.2(TTN):c.98990-1G>T rs796111471
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu) rs397517781
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del) rs397516470
NM_001278064.2(GRM1):c.950+8TC[17] rs72225459
NM_001278064.2(GRM1):c.950+8TC[20] rs72225459
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val) rs200930463
NM_001291303.3(FAT4):c.739C>A (p.Pro247Thr) rs191329848
NM_001291415.2(KDM6A):c.2859-5del rs10605935
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715
NM_001352027.3(PHF21A):c.1741C>T (p.Arg581Ter) rs1565138763
NM_001354930.2(RIPK1):c.1935G>A (p.Thr645=) rs114183703
NM_001358263.1(HK1):c.75+23del rs111682217
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup) rs782576893
NM_001364905.1(LRBA):c.1015-10dup rs753223643
NM_001364905.1(LRBA):c.114G>T (p.Gly38=) rs72721739
NM_001365088.1(SLC12A6):c.317-5del rs747243268
NM_001365276.2(TNXB):c.3763C>G (p.Arg1255Gly) rs376472382
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001366385.1(CARD14):c.2919C>G (p.Asp973Glu) rs144285237
NM_001369.3(DNAH5):c.2578-7del rs71600031
NM_001369.3(DNAH5):c.2578-9_2578-7del rs71600031
NM_001370259.2(MEN1):c.1052A>G (p.Tyr351Cys) rs2136111524
NM_001370259.2(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_001371623.1(TCOF1):c.1993G>C (p.Ala665Pro) rs2071240
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln214_His215insGlnGln) rs587779743
NM_001375405.1(CEP120):c.1431-31dup rs75744800
NM_001375808.2(LPIN2):c.1169-7del rs746626720
NM_001378454.1(ALMS1):c.10214-12dup rs543855806
NM_001378454.1(ALMS1):c.10262del (p.Pro3421fs) rs2104063769
NM_001378454.1(ALMS1):c.36GGA[10] (p.Glu26_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[11] (p.Glu27_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[14] (p.Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[9] (p.Glu25_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.68_69insAGAGGA (p.Glu27_Glu28dup) rs756301830
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001386795.1(DTNA):c.1744-10G>T rs192561043
NM_001388492.1(HTT):c.54GCA[26] (p.Gln32_Gln38dup) rs71180116
NM_001388492.1(HTT):c.58_110= (p.Gln20_Gln37=) rs71180116
NM_001458.5(FLNC):c.1948C>T (p.Arg650Ter) rs770606675
NM_001458.5(FLNC):c.4456+1G>A rs1318885805
NM_001458.5(FLNC):c.5399-17C>T rs930809365
NM_001458.5(FLNC):c.6864_6867dup (p.Val2290fs) rs2128939508
NM_001458.5(FLNC):c.969+14G>T rs765545958
NM_001543.5(NDST1):c.1749+8dup rs528143978
NM_001555.5(IGSF1):c.498G>C (p.Glu166Asp) rs201255931
NM_001605.3(AARS1):c.1737C>T (p.Ile579=) rs144323646
NM_001643.2(APOA2):c.53-43TG[14] rs17244502
NM_001643.2(APOA2):c.53-43TG[20] rs17244502
NM_001710.6(CFB):c.1524C>T (p.His508=) rs138207668
NM_001743.6(CALM2):c.285+16G>C rs3729963
NM_001814.6(CTSC):c.173-19dup rs11326739
NM_001845.6(COL4A1):c.2096-27dup rs112508409
NM_001848.3(COL6A1):c.1814-6C>G rs182804464
NM_001854.4(COL11A1):c.652-6del rs36076089
NM_001854.4(COL11A1):c.652-6dup rs36076089
NM_001875.5(CPS1):c.3928-8del rs397703682
NM_001875.5(CPS1):c.3928-9_3928-8del rs397703682
NM_001927.4(DES):c.114G>A (p.Ala38=) rs368901105
NM_001927.4(DES):c.1353C>T (p.Ile451=) rs121913002
NM_001927.4(DES):c.407T>C (p.Leu136Pro) rs397516695
NM_001927.4(DES):c.735+14C>T rs2125167702
NM_001931.4(DLAT):c.381+22delT rs5794771
NM_001940.4(ATN1):c.1464GCA[12] (p.Gln500_Gln502del) rs60216939
NM_001940.4(ATN1):c.1464GCA[14] (p.Gln502del) rs60216939
NM_001943.5(DSG2):c.2796T>C (p.Asn932=) rs2073307337
NM_001943.5(DSG2):c.523+23_523+24del rs77324780
NM_001943.5(DSG2):c.523+24dup rs77324780
NM_001961.4(EEF2):c.1011+17G>A rs190562397
NM_001999.4(FBN2):c.4472-12del rs758812755
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_002087.4(GRN):c.99C>T (p.Asp33=) rs63750742
NM_002133.3(HMOX1):c.709C>G (p.Arg237Gly) rs145427664
NM_002185.5(IL7R):c.1043A>C (p.Asn348Thr) rs41270321
NM_002227.4(JAK1):c.414C>T (p.Tyr138=) rs35237903
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_002241.5(KCNJ10):c.300C>A (p.Asp100Glu) rs139069413
NM_002292.4(LAMB2):c.261G>A (p.Lys87=) rs149408554
NM_002303.6(LEPR):c.1968G>C (p.Lys656Asn) rs1805094
NM_002335.4(LRP5):c.34CTG[6] (p.Leu18_Leu20del) rs72555376
NM_002335.4(LRP5):c.34CTG[8] (p.Leu20del) rs72555376
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=) rs72610640
NM_002354.3(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_002448.3(MSX1):c.605G>A (p.Arg202His) rs121913129
NM_002470.4(MYH3):c.1960-17dup rs3216884
NM_002470.4(MYH3):c.1960-8del rs3216884
NM_002471.4(MYH6):c.1131C>G (p.Asp377Glu) rs61742472
NM_002471.4(MYH6):c.1131C>T (p.Asp377=) rs61742472
NM_002471.4(MYH6):c.2702A>G (p.Asn901Ser) rs1891315952
NM_002471.4(MYH6):c.2806G>T (p.Ala936Ser) rs141704264
NM_002471.4(MYH6):c.3979-10C>A rs28730768
NM_002471.4(MYH6):c.3979-11C>G rs200618133
NM_002471.4(MYH6):c.3979-11C>T rs200618133
NM_002471.4(MYH6):c.3979-14C>A rs372226248
NM_002471.4(MYH6):c.3979-7_3979-5del rs397516764
NM_002471.4(MYH6):c.3979-8dup rs193922652
NM_002471.4(MYH6):c.3979-9C>A rs57660219
NM_002471.4(MYH6):c.3979-9C>G rs57660219
NM_002474.3(MYH11):c.1575+8del rs769321167
NM_002474.3(MYH11):c.4116+11del rs543763112
NM_002474.3(MYH11):c.5796C>T (p.Asn1932=) rs149529195
NM_002693.3(POLG):c.126GCA[10] (p.Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del) rs41550117
NM_002693.3(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.3(POLG):c.856-17CTC[4] rs200056162
NM_002693.3(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp) rs121918514
NM_002769.5(PRSS1):c.486T>C (p.Asp162=) rs6666
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002860.4(ALDH18A1):c.809-1G>C rs1202802893
NM_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del) rs113614842
NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del) rs113614842
NM_003000.3(SDHB):c.424-37TTC[6] rs34261028
NM_003000.3(SDHB):c.653G>C (p.Trp218Ser) rs1553177290
NM_003042.4(SLC6A1):c.651G>A (p.Thr217=) rs6344
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg) rs876657400
NM_003070.5(SMARCA2):c.669GCA[14] (p.Gln238_Pro239insGln) rs113070757
NM_003070.5(SMARCA2):c.669GCA[15] (p.Gln238_Pro239insGlnGln) rs113070757
NM_003126.4(SPTA1):c.6549-12G>A rs857716
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[12] rs10482769
NM_003242.6(TGFBR2):c.383del (p.Lys128fs) rs79375991
NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe) rs3775291
NM_003289.4(TPM2):c.773-3dup rs35401252
NM_003400.4(XPO1):c.1537G>A (p.Glu513Lys)
NM_003400.4(XPO1):c.1640TAG[1] (p.Val548del)
NM_003400.4(XPO1):c.2525C>G (p.Pro842Arg)
NM_003400.4(XPO1):c.639+3_639+6del
NM_003400.4(XPO1):c.913C>T (p.Arg305Ter) rs61761632
NM_003413.4(ZIC3):c.135CGC[10] (p.Ala55dup) rs748325646
NM_003476.5(CSRP3):c.286_287del (p.Pro96fs) rs960577385
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup) rs398123707
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu) rs201623566
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp) rs587780563
NM_003611.3(OFD1):c.2052C>G (p.Ser684=) rs61742891
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln) rs149845612
NM_003737.4(DCHS1):c.5035+10dup rs554638348
NM_003859.3(DPM1):c.679-8dup rs11483542
NM_003923.3(FOXH1):c.771C>T (p.Gly257=) rs115750264
NM_004006.3(DMD):c.3603+15del rs5902031
NM_004006.3(DMD):c.3603+3dup rs5902031
NM_004006.3(DMD):c.923C>T (p.Thr308Ile) rs145064612
NM_004056.6(CA8):c.*36-24dup rs57677078
NM_004113.6(FGF12):c.229-8del rs34265167
NM_004168.4(SDHA):c.1909-12_1909-11del rs372662724
NM_004168.4(SDHA):c.1945_1946del (p.Leu649fs) rs112307877
NM_004168.4(SDHA):c.622-13del rs3835068
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=) rs35353912
NM_004187.5(KDM5C):c.2517-9_2517-7dup rs398124111
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln) rs35434411
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727
NM_004281.4(BAG3):c.612G>A (p.Gly204=) rs2134065088
NM_004360.5(CDH1):c.1320+1G>T rs886039685
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser) rs77181645
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.3370-16dup rs75459669
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His) rs142545779
NM_004387.4(NKX2-5):c.335-311_335-303del rs200467566
NM_004393.6(DAG1):c.-116-4dup rs200455639
NM_004415.4(DSP):c.1266+6G>T rs73375345
NM_004415.4(DSP):c.2436+16A>G rs199555263
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) rs746877365
NM_004415.4(DSP):c.4608_4612del (p.Arg1537fs) rs796620239
NM_004517.4(ILK):c.1079-10A>C rs769283883
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys) rs118192251
NM_004525.3(LRP2):c.428-9_428-8del rs370823033
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) rs34982899
NM_004655.4(AXIN2):c.1235A>G (p.Asn412Ser) rs115931022
NM_004738.5(VAPB):c.476CTT[1] (p.Ser160del) rs566283411
NM_004958.4(MTOR):c.5502_5519dup (p.Ala1835_Thr1840dup) rs770515802
NM_004960.4(FUS):c.1542-5dup rs371057360
NM_004960.4(FUS):c.518_523del
NM_004977.3(KCNC3):c.2170+14C>T rs189018316
NM_004993.6(ATXN3):c.916_917insC (p.Gly306fs) rs763461489
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005045.4(RELN):c.5211-7del rs34125550
NM_005045.4(RELN):c.5211-7dup rs34125550
NM_005045.4(RELN):c.5211-8_5211-7del rs34125550
NM_005060.4(RORC):c.1391C>G (p.Ala464Gly) rs113195254
NM_005097.4(LGI1):c.432-6_432-5dup rs61662431
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005159.5(ACTC1):c.809-58TG[16] rs59431308
NM_005159.5(ACTC1):c.809-58TG[20] rs59431308
NM_005159.5(ACTC1):c.809-58TG[21] rs59431308
NM_005159.5(ACTC1):c.809-58TG[22] rs59431308
NM_005159.5(ACTC1):c.809-58TG[24] rs59431308
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.3149-25_3149-24dup rs79558427
NM_005263.5(GFI1):c.925-40CT[15] rs35896485
NM_005263.5(GFI1):c.925-40CT[19] rs35896485
NM_005263.5(GFI1):c.925-40CT[21] rs35896485
NM_005475.3(SH2B3):c.1236+4TGGGG[4] rs111340708
NM_005475.3(SH2B3):c.1236+4TGGGG[6] rs111340708
NM_005477.3(HCN4):c.1441T>C (p.Tyr481His) rs1057519275
NM_005477.3(HCN4):c.2700C>A (p.Ala900=) rs377656260
NM_005477.3(HCN4):c.785+18T>A rs1412056222
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu) rs147114700
NM_005591.4(MRE11):c.315-14dup rs35062043
NM_005591.4(MRE11):c.315-4del rs35062043
NM_005629.4(SLC6A8):c.87G>A (p.Gly29=) rs782373793
NM_005989.4(AKR1D1):c.379-4del rs35402657
NM_006073.4(TRDN):c.1805-21dup rs11373802
NM_006079.5(CITED2):c.114CCA[1] (p.His39del) rs749590293
NM_006208.3(ENPP1):c.313+9GT[20] rs59956343
NM_006208.3(ENPP1):c.313+9GT[22] rs59956343
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.2865-4del rs369732588
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys) rs863225082
NM_006261.5(PROP1):c.152G>C (p.Gly51Ala) rs2233783
NM_006265.3(RAD21):c.815-5del rs35902828
NM_006265.3(RAD21):c.815-6_815-5del rs35902828
NM_006267.5(RANBP2):c.7790T>C (p.Phe2597Ser) rs2949962
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu) rs146275785
NM_006415.4(SPTLC1):c.452G>T (p.Arg151Leu) rs45461899
NM_006440.5(TXNRD2):c.1150G>A (p.Gly384Ser) rs192869629
NM_006440.5(TXNRD2):c.64G>A (p.Val22Met) rs370819229
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006516.4(SLC2A1):c.679+4C>T rs139492241
NM_006516.4(SLC2A1):c.679+7G>A rs13306757
NM_006516.4(SLC2A1):c.679+7G>C rs13306757
NM_006642.5(SDCCAG8):c.1094G>A (p.Arg365Lys) rs115098969
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006790.3(MYOT):c.1401T>C (p.Asn467=) rs145427063
NM_006796.3(AFG3L2):c.293-14_293-13del rs556473698
NM_006892.4(DNMT3B):c.1760-8C>T rs2424926
NM_006904.7(PRKDC):c.8662G>C (p.Val2888Leu) rs185741285
NM_006904.7(PRKDC):c.9337-4del rs11311765
NM_007078.3(LDB3):c.1318T>C (p.Ser440Pro) rs868594949
NM_007078.3(LDB3):c.465C>T (p.Leu155=) rs45516997
NM_007078.3(LDB3):c.690-4837C>T rs528725791
NM_007118.4(TRIO):c.3948+26_3948+27dup rs57751910
NM_007126.5(VCP):c.476G>A (p.Arg159His) rs121909335
NM_007187.5(WBP4):c.262+23del rs58699334
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007214.5(SEC63):c.1697AAG[2] (p.Glu568del) rs752018806
NM_007214.5(SEC63):c.1936-27_1936-25dup rs749125299
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007289.4(MME):c.467del (p.Pro156fs) rs749320057
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.4097-141A>C rs799916
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.4(BRCA1):c.439T>C (p.Leu147=) rs794727800
NM_007294.4(BRCA1):c.441+36_441+49del rs373413425
NM_007294.4(BRCA1):c.441+64del rs72434991
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.5467G>A (p.Ala1823Thr) rs80357212
NM_007294.4(BRCA1):c.548-58del rs8176144
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.81-13C>G rs56328013
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_007325.5(GRIA3):c.268+16762dup rs11452643
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser) rs80356734
NM_012079.6(DGAT1):c.856-3C>T rs201711241
NM_012200.4(B3GAT3):c.909+262del rs35002433
NM_012330.4(KAT6B):c.4079AAGAGGAAG[4] (p.Glu1366_Glu1368dup) rs375513122
NM_013266.4(CTNNA3):c.2401-23dup rs1338241471
NM_014000.3(VCL):c.1294C>T (p.Leu432=) rs144146254
NM_014000.3(VCL):c.622+4C>T rs201020802
NM_014055.4(IFT81):c.714A>C (p.Gln238His) rs146627387
NM_014251.3(SLC25A13):c.1452+19del rs749506606
NM_014251.3(SLC25A13):c.848+8G>T rs761126981
NM_014270.5(SLC7A9):c.120G>A (p.Val40=) rs140179068
NM_014391.3(ANKRD1):c.346-43AT[13] rs60406118
NM_014476.6(PDLIM3):c.246-9_246-5del rs765292127
NM_014625.4(NPHS2):c.862G>A (p.Ala288Thr) rs1490010141
NM_014795.4(ZEB2):c.3067+6A>T rs143450927
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_014845.6(FIG4):c.447-17dup rs764540259
NM_014875.3(KIF14):c.-115-17dup rs201792546
NM_014915.3(ANKRD26):c.1269+7_1269+9del rs200015812
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014956.5(CEP164):c.380C>A (p.Pro127His) rs143659874
NM_014967.5(FAN1):c.2418C>T (p.Asp806=) rs143461130
NM_015046.7(SETX):c.6843-16dup rs34769225
NM_015202.5(KATNIP):c.1113+10G>A rs376063239
NM_015272.5(RPGRIP1L):c.3295-8del rs113083177
NM_015294.6(TRIM37):c.810-3del rs367700401
NM_015450.3(POT1):c.-153-9del rs57468586
NM_015450.3(POT1):c.916A>G (p.Ile306Val) rs1415345156
NM_015570.4(AUTS2):c.3437G>T (p.Gly1146Val) rs150926322
NM_016203.4(PRKAG2):c.471C>T (p.Ser157=) rs141804012
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=) rs145029525
NM_016599.5(MYOZ2):c.688C>T (p.Arg230Trp) rs372215131
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.2096+21dup rs111577577
NM_017827.4(SARS2):c.1530_1538dup (p.Leu511_Gly513dup) rs551671819
NM_017838.4(NHP2):c.160+10A>T rs376220034
NM_017849.4(TMEM127):c.410-2A>G rs121908826
NM_018100.4(EFHC1):c.723+106C>T rs190021570
NM_018122.5(DARS2):c.228-12C>G rs9425753
NM_018486.3(HDAC8):c.738-1G>A rs1602975601
NM_018718.3(CEP41):c.575-14del rs144531086
NM_018979.4(WNK1):c.2373+21del rs5795952
NM_018979.4(WNK1):c.5542_5550del (p.Thr1848_Ser1850del) rs544395150
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTAGAGG rs71269007
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1159+8_1159+9insGGTGGGCGCAGCTGGAGG rs747240016
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=) rs10870182
NM_020070.4(IGLL1):c.284C>A (p.Thr95Lys) rs116041505
NM_020223.4(FAM20C):c.953_956+30dup rs771282640
NM_020297.4(ABCC9):c.1165-6del rs35857705
NM_020297.4(ABCC9):c.1165-6dup rs35857705
NM_020297.4(ABCC9):c.1165-7_1165-6del rs35857705
NM_020297.4(ABCC9):c.2020-6T>C rs1234670723
NM_020297.4(ABCC9):c.2644-11G>A rs61926078
NM_020297.4(ABCC9):c.3346C>T (p.Arg1116Cys) rs387907228
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp) rs387907208
NM_020297.4(ABCC9):c.4450-5del rs4148680
NM_020297.4(ABCC9):c.817-18del rs199947733
NM_020297.4(ABCC9):c.817-7del rs193922684
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358
NM_020458.4(TTC7A):c.1026C>T (p.Ile342=) rs151317740
NM_020774.4(MIB1):c.180C>T (p.Tyr60=) rs141633387
NM_020778.5(ALPK3):c.1688T>C (p.Met563Thr) rs150028343
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys) rs866242631
NM_020944.3(GBA2):c.1196G>C (p.Arg399Pro) rs142607078
NM_020964.3(EPG5):c.6622-23dup rs11333207
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_021072.4(HCN1):c.192TGGCGGCGG[3] (p.Gly72_Gly74dup) rs56064803
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del) rs747975797
NM_021098.3(CACNA1H):c.988G>A (p.Val330Met) rs752653043
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_022489.4(INF2):c.1262CACCCC[3] (p.Pro427_Pro428del) rs573567814
NM_022489.4(INF2):c.1582C>T (p.Pro528Ser) rs181694819
NM_024009.3(GJB3):c.479G>A (p.Arg160His) rs200055020
NM_024312.5(GNPTAB):c.-62GGC[7] rs76300806
NM_024334.3(TMEM43):c.1061G>C (p.Cys354Ser) rs187262922
NM_024334.3(TMEM43):c.163-3del rs371706980
NM_024334.3(TMEM43):c.512+19G>T rs114026215
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile) rs17024517
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del) rs377272752
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024496.4(IRF2BPL):c.462CGC[8] (p.Ala164del) rs371633333
NM_024496.4(IRF2BPL):c.491_492insCGC (p.Ala164dup) rs780441372
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_024589.3(ROGDI):c.117+10C>G rs113858060
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.316C>G (p.Leu106Val) rs137853913
NM_024675.4(PALB2):c.2607C>T (p.Ser869=) rs45542234
NM_024753.5(TTC21B):c.3519T>C (p.Thr1173=) rs115504901
NM_025074.7(FRAS1):c.11544del (p.Arg3849fs) rs776789412
NM_025074.7(FRAS1):c.7029+9A>C rs188606284
NM_025114.4(CEP290):c.1825-17CT[2] rs367600498
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025132.4(WDR19):c.553C>G (p.Gln185Glu) rs769602871
NM_025137.4(SPG11):c.6477+13del rs574960359
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser) rs75309308
NM_025216.3(WNT10A):c.831G>C (p.Trp277Cys) rs1234227647
NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del) rs371983878
NM_030962.4(SBF2):c.3292C>G (p.Leu1098Val) rs117957652
NM_032043.3(BRIP1):c.380-28G>A rs4988343
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu) rs41303350
NM_032119.4(ADGRV1):c.18433-5del rs35858094
NM_032119.4(ADGRV1):c.7176C>T (p.Ser2392=) rs111033452
NM_032383.5(HPS3):c.884+25del rs10693502
NM_032427.4(MAML2):c.1782GCA[12] (p.Gln621del) rs60727839
NM_032578.4(MYPN):c.3417C>G (p.Arg1139=) rs144488384
NM_033380.3(COL4A5):c.406A>G (p.Ser136Gly) rs768580195
NM_033629.6(TREX1):c.720G>A (p.Arg240=) rs72556555
NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu) rs368390254
NM_053025.4(MYLK):c.4289-10dup rs41431347
NM_053025.4(MYLK):c.588+13_588+16del rs570821069
NM_080425.4(GNAS):c.1394_1395insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC (p.Asp466_Ala467insSerGlyAlaAlaArgAspAlaProAlaAspProAsp) rs1196950915
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr) rs147145506
NM_138638.5(CFL2):c.312-7del rs35515423
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu) rs76572975
NM_138694.4(PKHD1):c.4844C>T (p.Thr1615Met) rs147529495
NM_138694.4(PKHD1):c.8302+2T>C rs2151510946
NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del) rs397517848
NM_144573.4(NEXN):c.1909_1912del (p.Tyr637fs) rs775629965
NM_144596.4(TTC8):c.1464G>C (p.Ala488=) rs142073418
NM_144687.4(NLRP12):c.2830C>A (p.Arg944=) rs104895570
NM_145207.3(AFG2A):c.1883A>G (p.Asp628Gly) rs768528444
NM_145207.3(AFG2A):c.1A>C (p.Met1Leu) rs552219028
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_145239.3(PRRT2):c.564G>A (p.Gln188=) rs545201760
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs) rs587778771
NM_147127.5(EVC2):c.1711-11_1711-10dup rs35103377
NM_152384.3(BBS5):c.387-15_387-12del rs756793669
NM_152468.5(TMC8):c.988-4G>A rs62079073
NM_152564.5(VPS13B):c.1293T>G (p.Thr431=) rs77759532
NM_152564.5(VPS13B):c.2014-2A>G rs1588095580
NM_153026.3(PRICKLE1):c.954C>G (p.Ser318=) rs139421676
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter) rs58048078
NM_170707.4(LMNA):c.876G>A (p.Leu292=) rs2102883669
NM_172107.4(KCNQ2):c.1503C>G (p.Ala501=) rs1801545
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp) rs1555873985
NM_172107.4(KCNQ2):c.602G>A (p.Arg201His) rs1057516085
NM_172362.3(KCNH1):c.80-19dup rs56223346
NM_172362.3(KCNH1):c.80-6del rs56223346
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs) rs879255251
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val) rs11583680
NM_175875.5(SIX5):c.150CGGGGC[3] (p.51GA[4]) rs563227896
NM_175875.5(SIX5):c.1773G>T (p.Thr591=) rs138916954
NM_182895.5(SCARF2):c.1425-35_1425-25del rs761153453
NM_182895.5(SCARF2):c.2232= (p.Arg744=)
NM_182961.4(SYNE1):c.17203-6del rs55633181
NM_182961.4(SYNE1):c.17203-6dup rs55633181
NM_182961.4(SYNE1):c.17203-7_17203-6del rs55633181
NM_182961.4(SYNE1):c.3670-14del rs111322292
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=) rs146789107
NM_194454.3(KRIT1):c.2043del (p.Lys682fs) rs1563212150
NM_198060.4(NRAP):c.994-13dup rs35741231
NM_198271.5(LMOD3):c.426A>C (p.Glu142Asp) rs111848977
NM_198525.3(KIF7):c.2719-28CCCT[6] rs3840030
NM_198525.3(KIF7):c.2719-28CCCT[8] rs3840030
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_201384.3(PLEC):c.378T>G (p.Ala126=) rs6993938
NM_201596.3(CACNB2):c.121-17_121-3dup rs71402148
NM_201596.3(CACNB2):c.121-25_121-3dup rs71402148
NM_201596.3(CACNB2):c.121-3_121-2insTTTTGT rs769211879
NM_201596.3(CACNB2):c.121-9_121-3del rs71402148
NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu) rs137886839
NM_203447.4(DOCK8):c.3234+15del rs375864618
NM_206926.2(SELENON):c.990+6C>G rs148071754
NM_207361.6(FREM2):c.2308G>A (p.Val770Met) rs7327915
NM_213599.3(ANO5):c.2236-10del rs72105710

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