ClinVar Miner

Variants from Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ with conflicting interpretations

Location: Netherlands  Primary collection method: clinical testing
Minimum review status of the submission from Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+: Collection method of the submission from Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

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

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
278 4832 56 4187 1204 52 286 5087

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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ pathogenic likely pathogenic uncertain significance likely benign benign affects association confers sensitivity drug response established risk allele pathogenic, low penetrance protective risk factor uncertain risk allele other
pathogenic 0 366 78 7 5 0 0 0 8 0 2 0 9 0 2
likely pathogenic 279 1 71 2 0 0 1 0 3 0 1 1 0 0 2
uncertain significance 49 66 1 295 55 0 0 0 0 1 0 0 2 0 0
likely benign 1 8 623 1 1541 0 0 0 0 0 0 0 1 0 0
benign 5 18 269 2001 53 1 2 1 6 0 0 0 7 1 6

Submitter to submitter summary #

Total submitters: 154
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 5866 0 1200 238 1 66 1505
Clinical Genetics, Academic Medical Center 0 2872 0 913 0 0 2 915
CeGaT Center for Human Genetics Tuebingen 0 1437 0 626 155 0 28 809
Genetic Services Laboratory, University of Chicago 0 757 0 660 78 1 1 740
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1281 0 600 114 0 7 721
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 3487 0 699 0 0 2 701
Eurofins Ntd Llc (ga) 0 1958 0 329 291 7 28 655
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 766 0 650 0 0 0 650
PreventionGenetics, part of Exact Sciences 0 3416 0 535 94 1 12 642
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1868 0 367 177 0 21 565
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 2515 0 553 0 0 0 553
Ambry Genetics 0 1589 0 365 129 0 21 514
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 2048 0 486 0 0 0 486
Invitae 0 1879 0 308 123 4 44 479
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1530 0 345 63 1 7 416
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 286 54 98 67 0 3 222
Athena Diagnostics Inc 0 1055 0 172 38 0 9 219
Illumina Laboratory Services, Illumina 0 347 0 145 55 0 10 209
Quest Diagnostics Nichols Institute San Juan Capistrano 0 408 0 126 46 0 6 178
Mayo Clinic Laboratories, Mayo Clinic 0 559 0 104 61 0 11 176
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 802 0 159 0 0 0 159
Department of Pathology and Laboratory Medicine, Sinai Health System 0 189 0 45 79 0 19 143
Revvity Omics, Revvity 0 376 0 57 54 0 15 126
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 237 0 100 24 0 0 124
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 521 0 76 36 0 3 115
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 162 0 80 11 0 2 93
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 63 0 15 41 0 5 61
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 136 0 21 31 0 5 57
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 148 0 41 8 0 1 50
OMIM 0 54 0 13 2 25 8 48
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 149 0 41 0 0 2 43
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 525 0 43 0 0 0 43
Fulgent Genetics, Fulgent Genetics 0 132 0 37 4 0 1 42
Color Diagnostics, LLC DBA Color Health 0 152 0 26 5 0 1 32
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 3 0 5 3 0 23 31
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 24 0 7 14 0 4 25
Blueprint Genetics 0 55 0 15 4 0 4 23
AiLife Diagnostics, AiLife Diagnostics 0 68 0 17 0 0 5 22
Mendelics 0 20 0 6 13 0 1 20
Natera, Inc. 0 58 0 15 1 0 0 16
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 36 0 7 8 0 0 15
CSER _CC_NCGL, University of Washington 0 9 0 5 9 0 1 15
Clinical Genetics and Genomics, Karolinska University Hospital 0 97 0 13 0 0 2 15
Baylor Genetics 0 27 0 6 0 0 8 14
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 21 0 9 3 0 2 14
Genome-Nilou Lab 0 30 0 12 0 0 2 14
All of Us Research Program, National Institutes of Health 0 63 0 7 2 0 5 14
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 39 0 8 3 0 2 13
Leiden Open Variation Database 0 26 0 11 2 0 0 13
Department of Ophthalmology and Visual Sciences Kyoto University 0 1 1 11 0 0 0 12
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 14 0 11 0 0 1 12
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 26 0 10 0 0 2 12
PharmGKB 0 0 0 0 0 11 0 11
NIHR Bioresource Rare Diseases, University of Cambridge 0 9 0 8 0 0 3 11
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 11 0 6 2 0 2 10
Institute of Human Genetics, University of Leipzig Medical Center 0 8 0 7 0 0 2 9
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 10 0 8 0 0 0 8
Kariminejad - Najmabadi Pathology & Genetics Center 0 27 0 7 0 0 1 8
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 9 0 6 0 0 1 7
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 0 59 0 7 0 0 0 7
Gharavi Laboratory, Columbia University 0 14 0 5 0 0 2 7
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 8 0 3 2 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 38 0 5 0 0 0 5
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 0 17 0 2 2 0 1 5
Institute of Human Genetics, University Hospital Muenster 0 22 0 2 2 0 1 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 3 0 0 1 4
GeneKor MSA 0 43 0 4 0 0 0 4
Yale Center for Mendelian Genomics, Yale University 0 1 0 3 0 0 1 4
Ocular Genomics Institute, Massachusetts Eye and Ear 0 11 0 2 0 0 2 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 5 0 3 1 0 0 4
Faculty of Health Sciences, Beirut Arab University 0 2 0 3 0 0 1 4
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 10 0 1 0 0 2 3
MGZ Medical Genetics Center 0 3 0 2 0 0 1 3
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 3 0 0 0 3
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 0 0 2 0 0 1 3
Molecular Genetics and Enzymology, National Research Centre 0 0 0 0 2 0 1 3
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 2 0 0 1 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 4 0 2 0 0 1 3
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 7 0 3 0 0 0 3
Bruce Budowle Laboratory, University of North Texas Health Science Center 0 0 0 0 0 3 0 3
University of Washington Department of Laboratory Medicine, University of Washington 0 4 0 2 0 1 0 3
3billion 0 5 0 3 0 0 0 3
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 9 0 1 2 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 4 0 2 0 0 1 3
Genomics England Pilot Project, Genomics England 0 8 0 3 0 0 0 3
King Laboratory, University of Washington 0 1 0 1 1 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 7 1 0 1 0 0 2
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 0 0 0 2 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 9 0 2 0 0 0 2
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 2 0 1 0 0 1 2
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 0 1 0 0 0 0 2 2
Clinical Genetics, Erasmus University Medical Center 0 0 0 0 2 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 0 3 0 1 1 0 0 2
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 0 0 2 0 0 0 2
Database of Curated Mutations (DoCM) 0 0 0 2 0 0 0 2
Department of Pathology and Molecular Medicine, Queen's University 0 13 0 1 1 0 0 2
Sharon lab, Hadassah-Hebrew University Medical Center 0 5 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 1 1 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 2 0 0 0 2
Institute of Reproductive Genetics, University of Münster 0 1 0 1 0 0 1 2
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 2 0 2 0 0 0 2
CZECANCA consortium 0 17 0 1 0 0 1 2
CFTR-France 0 0 0 0 0 0 2 2
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 0 0 1 0 1 2
New York Genome Center 0 4 0 1 0 0 1 2
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research 0 1 0 2 0 0 0 2
Laboratoire Génétique Moléculaire, CHRU TOURS 0 3 0 2 0 0 0 2
DASA 0 18 0 1 0 0 1 2
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 0 2 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 4 0 0 1 0 0 1
Claritas Genomics 0 10 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 2 0 1 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 1 0 0 1 0 0 1
TilsonLab, Columbia University 0 0 0 0 0 0 1 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 4 0 1 0 0 0 1
Foundation Medicine, Inc. 0 0 0 0 1 0 0 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 1 0 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 11 0 1 0 0 0 1
Laboratory of Molecular Genetics, CHU Rennes 0 1 0 1 0 0 0 1
Genetic Testing Lab, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences 0 0 0 0 0 1 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 2 0 1 0 0 0 1
Oxford Haemato-Oncology Service, Oxford University Hospitals NHS Foundation Trust 0 0 0 0 0 1 0 1
Endocrine oncology group, Uppsala University 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 2 0 1 0 0 0 1
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 0 1 0 0 1 0 0 1
Dan Cohn Lab, University Of California Los Angeles 0 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 7 0 0 1 0 0 1
Inherited Neuropathy Consortium 0 1 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 3 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1 1
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University 0 0 0 1 0 0 0 1
Klaassen Lab, Charite University Medicine Berlin 0 1 0 0 0 0 1 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 1 0 0 0 1
deCODE genetics, Amgen 0 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 1 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 0 1 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 91 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 1 0 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 0 0 0 1 0 0 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 1 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 2 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 0 1 0 0 0 1
Ulrich Schweizer laboratory, Universitaetsklinikum Bonn 0 0 0 0 1 0 0 1
Centro Dermatológico Federico Lleras Acosta, Hospital Universitario Centro Dermatológico Federico Lleras Acosta 0 0 0 0 0 1 0 1
Beijing Key Laboratory of Neuropsychopharmacology, State Key Laboratory of Toxicology and Medical Countermeasures, Beijing Institute of Pharmacology and Toxicology 0 0 0 0 0 1 0 1
Department of Neurology, Children’s Hospital of Chongqing Medical University 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
Faculty of Pharmacy, University of Ljubljana 0 0 0 0 0 0 1 1
Department of Medical Oncology, IRCCS Ospedale Policlinico San Martino 0 0 0 0 0 1 0 1
Dept Of Ophthalmology, Nagoya University 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 5087
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.373-10= rs7252610 0.99999
NM_000054.7(AVPR2):c.26-6T>G rs56689668 0.99968
NM_030928.4(CDT1):c.700T>C (p.Cys234Arg) rs507329 0.99944
NM_173076.3(ABCA12):c.2329T>A (p.Ser777Thr) rs7560008 0.99785
NM_004525.3(LRP2):c.63G>C (p.Ala21=) rs1559014 0.99771
NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala) rs1552311 0.99732
NM_145649.5(GCNT2):c.926-34546C>G rs539351 0.99662
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly) rs2515569 0.99154
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val) rs2147377 0.99149
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701 0.98600
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598 0.98511
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=) rs1432794 0.97933
NM_032119.4(ADGRV1):c.16279G>A (p.Val5427Met) rs2438378 0.97114
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg) rs268674 0.95976
NM_007327.4(GRIN1):c.1467+8G>A rs10747050 0.95319
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val) rs3027238 0.94552
NM_015346.4(ZFYVE26):c.5672A>G (p.Asn1891Ser) rs3742883 0.93729
NM_032119.4(ADGRV1):c.16031A>G (p.Glu5344Gly) rs2438374 0.93517
NM_198994.3(TGM6):c.172A>G (p.Met58Val) rs2076405 0.93204
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=) rs2217342 0.93139
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys) rs425876 0.92861
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln) rs1801726 0.91749
NM_032119.4(ADGRV1):c.18625-7T>C rs7726023 0.91136
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala) rs8037349 0.90740
NM_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776 0.88431
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431 0.87890
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502 0.87885
NM_018344.6(SLC29A3):c.976A>G (p.Ile326Val) rs2487068 0.87306
NM_001849.4(COL6A2):c.1671+10A>G rs915786 0.86241
NM_198525.3(KIF7):c.2658A>C (p.Ala886=) rs3803531 0.85312
NM_030667.3(PTPRO):c.1106-10T>A rs4764199 0.84939
NM_022455.5(NSD1):c.6829T>C (p.Leu2277=) rs28580074 0.84910
NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln) rs4836822 0.84114
NM_030928.4(CDT1):c.915T>C (p.His305=) rs510862 0.83978
NM_078470.6(COX15):c.*1126T>C rs2231687 0.83974
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met) rs2306916 0.82174
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552 0.82099
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829 0.81114
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr) rs6911096 0.80856
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg) rs9479297 0.80638
NM_004360.5(CDH1):c.48+6C>T rs3743674 0.80384
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=) rs1412640 0.80210
NM_001308093.3(GATA4):c.617-113T>C rs3735819 0.80128
NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=) rs711631 0.80127
NM_015915.5(ATL1):c.351G>A (p.Glu117=) rs1060197 0.79691
NM_004525.3(LRP2):c.12280A>G (p.Lys4094Glu) rs2075252 0.79497
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu) rs390659 0.78498
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=) rs11553521 0.77624
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val) rs3826543 0.77529
NM_018136.5(ASPM):c.10331+8A>G rs10754213 0.77181
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=) rs4915337 0.77164
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys) rs2366928 0.76700
NM_000601.6(HGF):c.1272-4A>G rs1800793 0.76662
NM_032119.4(ADGRV1):c.2367+8C>T rs2366773 0.76285
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=) rs1139405 0.75861
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_001994.3(F13B):c.344G>A (p.Arg115His) rs6003 0.75658
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe) rs4630153 0.75355
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) rs4766309 0.75219
NM_004168.4(SDHA):c.891T>C (p.Pro297=) rs1126417 0.74998
NM_018136.5(ASPM):c.441+14C>T rs1571964 0.74895
NM_018136.5(ASPM):c.849C>T (p.Ser283=) rs6677082 0.74886
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe) rs2366777 0.74245
NM_032119.4(ADGRV1):c.7751A>G (p.Asn2584Ser) rs1878878 0.74142
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860 0.73885
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771 0.73872
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile) rs4916684 0.73682
NM_014336.5(AIPL1):c.651A>G (p.Pro217=) rs2292546 0.73525
NM_000179.3(MSH6):c.3802-40C>G rs3136367 0.73398
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300 0.71989
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690 0.71839
NM_000152.5(GAA):c.1327-18A>G rs2278619 0.71811
NM_000552.5(VWF):c.4641T>C (p.Thr1547=) rs216310 0.71518
NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala) rs216311 0.71493
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596 0.71202
NM_000069.3(CACNA1S):c.1828-5T>C rs1998721 0.71016
NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu) rs4837768 0.70962
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) rs1046316 0.70506
NM_024596.5(MCPH1):c.228G>T (p.Val76=) rs2305022 0.69651
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355 0.69367
NM_001378615.1(CC2D2A):c.3183-8T>C rs13121363 0.69106
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_006005.3(WFS1):c.684C>G (p.Arg228=) rs1801213 0.68223
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=) rs11080572 0.67857
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_000505.4(F12):c.-4T>C rs1801020 0.67118
NM_002156.5(HSPD1):c.273A>G (p.Lys91=) rs8539 0.67099
NM_024596.5(MCPH1):c.940G>C (p.Asp314His) rs930557 0.67053
NM_004560.4(ROR2):c.733A>G (p.Thr245Ala) rs10820900 0.66416
NM_000546.6(TP53):c.74+38C>G rs1642785 0.66254
NM_000108.5(DLD):c.439-7T>C rs10263341 0.66181
NM_144599.5(NIPA1):c.441A>G (p.Thr147=) rs11263683 0.65973
NM_004700.4(KCNQ4):c.777T>C (p.Ala259=) rs4660468 0.65693
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393 0.65667
NM_000152.5(GAA):c.547-4C>G rs3816256 0.65665
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_000152.5(GAA):c.955+12G>A rs2252455 0.65487
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304 0.65453
NM_000240.4(MAOA):c.1410T>C (p.Asp470=) rs1137070 0.65298
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65135
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599 0.64925
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031 0.64845
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=) rs4407724 0.64816
NM_001018005.2(TPM1):c.453C>A (p.Ala151=) rs1071646 0.64628
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=) rs914428 0.64398
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069 0.64010
NM_006005.3(WFS1):c.1500C>T (p.Asn500=) rs1801214 0.63787
NM_006005.3(WFS1):c.461-9A>G rs10010131 0.63169
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524 0.62551
NM_001195248.2(APTX):c.484-13G>T rs10123944 0.62521
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=) rs303815 0.62374
NM_004247.4(EFTUD2):c.426+8G>A rs2289677 0.62345
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=) rs2256135 0.62211
NM_000352.6(ABCC8):c.2820+17A>G rs2106865 0.62022
NM_198578.4(LRRK2):c.7190T>C (p.Met2397Thr) rs3761863 0.61824
NM_005055.5(RAPSN):c.456T>C (p.Tyr152=) rs7111873 0.61686
NM_005055.5(RAPSN):c.1143T>C (p.Pro381=) rs7126210 0.61595
NM_014694.4(ADAMTSL2):c.2313A>G (p.Val771=) rs1064975 0.61566
NM_014271.4(IL1RAPL1):c.-19G>A rs6526806 0.61514
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764 0.61453
NM_004525.3(LRP2):c.2025C>T (p.Val675=) rs830994 0.61350
NM_001308093.3(GATA4):c.1000+56C>A rs804280 0.61291
NM_000540.3(RYR1):c.594A>G (p.Leu198=) rs2229139 0.60966
NM_004525.3(LRP2):c.12628A>C (p.Ile4210Leu) rs4667591 0.60691
NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu) rs1800470 0.60129
NM_004525.3(LRP2):c.13113C>T (p.Ile4371=) rs990626 0.59977
NM_000322.5(PRPH2):c.318T>C (p.Val106=) rs7764439 0.59853
NM_001875.5(CPS1):c.1032C>T (p.Thr344=) rs2229589 0.59558
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=) rs901854 0.59379
NM_181882.3(PRX):c.2645T>C (p.Val882Ala) rs268671 0.59048
NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln) rs3772165 0.58882
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_001048166.1(STIL):c.257C>T (p.Ala86Val) rs3125630 0.58260
NM_030665.4(RAI1):c.1992G>A (p.Pro664=) rs8067439 0.58185
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) rs1046314 0.57941
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=) rs9397102 0.57769
NM_000029.4(AGT):c.803T>C (p.Met268Thr) rs699 0.57702
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249 0.57256
NM_181882.3(PRX):c.2655T>C (p.Pro885=) rs268672 0.56968
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) rs213950 0.56732
NM_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206 0.56648
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774 0.56484
NM_018055.5(NODAL):c.494A>G (p.His165Arg) rs1904589 0.56006
NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=) rs3735801 0.55959
NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=) rs3735802 0.55845
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp) rs4645434 0.55815
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086 0.55793
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472 0.54674
NM_004525.3(LRP2):c.2460A>G (p.Thr820=) rs2241190 0.54408
NM_015559.3(SETBP1):c.540+7405G>A rs663651 0.54347
NM_002529.4(NTRK1):c.1887C>T (p.Ala629=) rs6337 0.53946
NM_002769.5(PRSS1):c.738T>C (p.Asn246=) rs6667 0.53816
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_004525.3(LRP2):c.3069A>G (p.Thr1023=) rs831043 0.53755
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=) rs9672286 0.53592
NM_003619.4(PRSS12):c.1281A>G (p.Gln427=) rs2292597 0.53313
NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=) rs17261772 0.53257
NM_003331.5(TYK2):c.1669+7T>C rs280519 0.52527
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg) rs12900805 0.52523
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile) rs3803530 0.52464
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala) rs214976 0.52364
NM_000587.4(C7):c.1166G>C (p.Ser389Thr) rs1063499 0.51910
NM_000257.4(MYH7):c.189C>T (p.Thr63=) rs2069540 0.51584
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267 0.51379
NM_000552.5(VWF):c.1451A>G (p.His484Arg) rs1800378 0.51348
NM_001953.5(TYMP):c.972C>T (p.Ala324=) rs131804 0.51130
NM_182961.4(SYNE1):c.1047+4T>A rs9397106 0.50379
NM_000217.3(KCNA1):c.804G>C (p.Thr268=) rs2227910 0.50318
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052 0.50252
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_000843.4(GRM6):c.1227C>T (p.Tyr409=) rs2645339 0.49941
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=) rs1129768 0.49865
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=) rs7598901 0.49457
NM_000383.4(AIRE):c.1578T>C (p.Asp526=) rs1133779 0.49415
NM_000489.6(ATRX):c.2785= (p.Glu929=) rs3088074 0.49116
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=) rs1432793 0.48793
NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser) rs3759871 0.48431
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616 0.48362
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099 0.48281
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606 0.47852
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099 0.47531
NM_013266.4(CTNNA3):c.1787G>A (p.Ser596Asn) rs4548513 0.47526
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030 0.47208
NM_000217.3(KCNA1):c.684T>C (p.Cys228=) rs1048500 0.46819
NM_006446.5(SLCO1B1):c.571T>C (p.Leu191=) rs4149057 0.46746
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813 0.46716
NM_000352.6(ABCC8):c.579+14C>T rs2301703 0.46493
NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe) rs1801195 0.46398
NM_000553.6(WRN):c.3138+7G>A rs2737335 0.46283
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138 0.46276
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro) rs11120047 0.45814
NM_006009.4(TUBA1A):c.288A>G (p.Lys96=) rs1056875 0.45696
NM_024596.5(MCPH1):c.2215-19A>G rs2936531 0.45478
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775 0.45330
NM_001244008.2(KIF1A):c.991T>C (p.Leu331=) rs1063353 0.45235
NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=) rs10966 0.45223
NM_004525.3(LRP2):c.10503G>A (p.Gln3501=) rs2229265 0.45093
NM_006446.5(SLCO1B1):c.597C>T (p.Phe199=) rs2291075 0.44938
NM_000754.4(COMT):c.186C>T (p.His62=) rs4633 0.44697
NM_000553.6(WRN):c.2361G>T (p.Leu787=) rs1800392 0.44630
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg) rs2244492 0.44551
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44536
NM_000312.4(PROC):c.-50A>T rs1799810 0.44475
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=) rs1050162 0.44262
NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857 0.44260
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=) rs1050163 0.44235
NM_000754.4(COMT):c.472G>A (p.Val158Met) rs4680 0.44044
NM_030665.4(RAI1):c.269G>C (p.Gly90Ala) rs3803763 0.43727
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312 0.43085
NM_000257.4(MYH7):c.2967T>C (p.Ile989=) rs7157716 0.43030
NM_001042472.3(ABHD12):c.837C>T (p.Arg279=) rs6107027 0.42961
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) rs1131695 0.42930
NM_014000.3(VCL):c.2388G>A (p.Pro796=) rs767809 0.42862
NM_000103.4(CYP19A1):c.*19C>T rs10046 0.42803
NM_030665.4(RAI1):c.5601T>C (p.Ile1867=) rs3818717 0.42485
NM_001177316.2(SLC34A3):c.757T>C (p.Leu253=) rs28407527 0.42407
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725 0.42035
NM_000834.5(GRIN2B):c.366C>G (p.Pro122=) rs7301328 0.41972
NM_000552.5(VWF):c.1548T>C (p.Tyr516=) rs1800379 0.41956
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244 0.41941
NM_000249.4(MLH1):c.1668-19A>G rs9876116 0.41821
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
NM_004525.3(LRP2):c.3054C>A (p.Thr1018=) rs2075249 0.41290
NM_004260.4(RECQL4):c.3236+13C>T rs4244610 0.41215
NM_000552.5(VWF):c.2365A>G (p.Thr789Ala) rs1063856 0.40814
NM_000552.5(VWF):c.2385T>C (p.Tyr795=) rs1063857 0.40791
NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010 0.40719
NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr) rs7079481 0.40619
NM_000383.4(AIRE):c.1197T>C (p.Ala399=) rs1800521 0.39834
NM_000203.5(IDUA):c.60G>A (p.Ala20=) rs10902762 0.39819
NM_133642.5(LARGE1):c.435C>T (p.Ala145=) rs86487 0.39804
NM_000553.6(WRN):c.3138+6C>T rs3024239 0.39769
NM_032578.4(MYPN):c.2072G>A (p.Ser691Asn) rs10997975 0.39270
NM_000834.5(GRIN2B):c.3534C>T (p.His1178=) rs1806191 0.39095
NM_001371279.1(REEP1):c.285G>A (p.Thr95=) rs2276625 0.39011
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met) rs3207090 0.38895
NM_004525.3(LRP2):c.4875T>C (p.Cys1625=) rs2229267 0.38704
NM_021956.5(GRIK2):c.2424G>A (p.Glu808=) rs2227283 0.38493
NM_000540.3(RYR1):c.7835+5A>G rs1469695 0.38217
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=) rs11675767 0.38033
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser) rs9493627 0.37885
NM_001077415.3(CRELD1):c.1049-393C>T rs3774207 0.37804
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321 0.37107
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala) rs2252755 0.36980
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320 0.36505
NM_181882.3(PRX):c.2763A>G (p.Ile921Met) rs268673 0.36279
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700 0.36123
NM_033337.3(CAV3):c.99C>T (p.Asn33=) rs1008642 0.35756
NM_030665.4(RAI1):c.493C>A (p.Pro165Thr) rs11649804 0.35747
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val) rs3829746 0.35516
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377 0.35383
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln) rs4710457 0.35152
NM_000363.5(TNNI3):c.25-8T>A rs3729836 0.35138
NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys) rs4148211 0.34608
NM_153700.2(STRC):c.179T>C (p.Phe60Ser) rs2729509 0.34286
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951 0.33482
NM_004525.3(LRP2):c.248A>G (p.Asn83Ser) rs2229263 0.33289
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=) rs2229144 0.33092
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=) rs2960340 0.33086
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn) rs1047891 0.33052
NM_144670.6(A2ML1):c.3364C>T (p.Arg1122Trp) rs1860967 0.33038
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=) rs1053315 0.32659
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys) rs197922 0.32616
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146 0.32548
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=) rs2071089 0.32394
NM_000754.4(COMT):c.408C>G (p.Leu136=) rs4818 0.32165
NM_000540.3(RYR1):c.8693-10G>C rs2915958 0.32159
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952 0.32150
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=) rs2229760 0.31596
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31596
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31585
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_001253852.3(AP4B1):c.618-13G>C rs3789613 0.31448
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683 0.30966
NM_007294.4(BRCA1):c.4485-63C>G rs273900734 0.30900
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_001614.5(ACTG1):c.930C>T (p.Ala310=) rs1135989 0.30776
NM_001492.6(GDF1):c.353C>T (p.Ala118Val) rs4808863 0.30267
NM_014714.4(IFT140):c.2253T>C (p.Pro751=) rs2076436 0.30184
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) rs2229920 0.30148
NM_020822.3(KCNT1):c.1749G>A (p.Ala583=) rs17038714 0.29915
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=) rs2252748 0.29787
NM_021956.5(GRIK2):c.2312-9C>T rs2227281 0.29507
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_000130.5(F5):c.5290A>G (p.Met1764Val) rs6030 0.29437
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081 0.29390
NM_021871.4(FGA):c.991A>G (p.Thr331Ala) rs6050 0.29256
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_001098.3(ACO2):c.192A>C (p.Thr64=) rs137831 0.29094
NM_006214.4(PHYH):c.636A>G (p.Thr212=) rs473407 0.28866
NM_001083961.2(WDR62):c.700-18C>T rs10423651 0.28763
NM_003611.3(OFD1):c.1129+16A>G rs3815049 0.28069
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806 0.27837
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.27385
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile) rs9353806 0.27343
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr) rs1043424 0.27338
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) rs3219489 0.26720
NM_004168.4(SDHA):c.1932G>A (p.Val644=) rs6961 0.26598
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321 0.26575
NM_000834.5(GRIN2B):c.1665C>T (p.Ser555=) rs1805482 0.26553
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) rs7551175 0.26545
NM_198994.3(TGM6):c.1476G>A (p.Lys492=) rs2295077 0.26375
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023 0.26237
NM_182961.4(SYNE1):c.17346+7G>A rs9383985 0.26223
NM_001166114.2(PNPLA6):c.2094G>A (p.Pro698=) rs8107538 0.26133
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831 0.25928
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_177438.3(DICER1):c.4206+9G>T rs1778057 0.25695
NM_198525.3(KIF7):c.3517+6C>T rs74251725 0.25419
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_004525.3(LRP2):c.8614G>A (p.Ala2872Thr) rs2228171 0.25207
NM_004168.4(SDHA):c.619A>C (p.Arg207=) rs6555055 0.25190
NM_004168.4(SDHA):c.684T>C (p.Asn228=) rs2115272 0.25174
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_018109.4(MTPAP):c.484C>T (p.Arg162Cys) rs1047991 0.24628
NM_000130.5(F5):c.2573A>G (p.Lys858Arg) rs4524 0.24159
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe) rs16868972 0.23938
NM_033337.3(CAV3):c.123T>C (p.Phe41=) rs13087941 0.23875
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530 0.23571
NM_000834.5(GRIN2B):c.2664C>T (p.Thr888=) rs1806201 0.23527
NM_000540.3(RYR1):c.7614+10C>G rs2960323 0.23284
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) rs1346044 0.22492
NM_005120.3(MED12):c.736-8A>C rs62609586 0.22423
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902 0.22262
NM_001244008.2(KIF1A):c.3641-8C>T rs56024577 0.22160
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619 0.21992
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768 0.21785
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929 0.21755
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala) rs17078605 0.21747
NM_006514.4(SCN10A):c.3275T>C (p.Leu1092Pro) rs12632942 0.21722
NM_000383.4(AIRE):c.681C>T (p.Gly227=) rs1055311 0.21613
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr) rs12463674 0.21485
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr) rs446227 0.21425
NM_001371623.1(TCOF1):c.4172C>T (p.Ala1391Val) rs15251 0.21165
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu) rs6720173 0.21159
NM_006514.4(SCN10A):c.2884A>G (p.Ile962Val) rs57326399 0.20797
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_001100.4(ACTA1):c.130-10G>C rs41271481 0.20670
NM_004247.4(EFTUD2):c.762T>C (p.Thr254=) rs2289674 0.20662
NM_020975.6(RET):c.337+9G>A rs2435351 0.20641
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn) rs8179065 0.20556
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857 0.20473
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627 0.20422
NM_000350.3(ABCA4):c.5836-11G>A rs1800739 0.20309
NM_032119.4(ADGRV1):c.8538T>G (p.Leu2846=) rs6880570 0.20255
NM_002465.4(MYBPC1):c.556+10C>G rs61935677 0.20237
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527 0.19565
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209 0.19521
NM_001130987.2(DYSF):c.6321+15C>T rs2559082 0.19470
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526 0.19072
NM_018249.6(CDK5RAP2):c.2274T>C (p.Asp758=) rs2501727 0.18906
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529 0.18890
NM_015915.5(ATL1):c.84A>G (p.Pro28=) rs35014209 0.18809
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_000587.4(C7):c.1759A>C (p.Thr587Pro) rs13157656 0.18623
NM_058216.3(RAD51C):c.-26C>T rs12946397 0.18608
NM_000383.4(AIRE):c.588C>T (p.Ser196=) rs878081 0.18544
NM_170784.3(MKKS):c.117C>T (p.Pro39=) rs16991547 0.18435
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_170707.4(LMNA):c.1157+16G>A rs534807 0.18318
NM_001371623.1(TCOF1):c.1578C>T (p.Pro526=) rs2071238 0.17747
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His) rs72646967 0.17704
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528 0.17598
NR_003051.4(RMRP):n.158G>C rs7021463 0.17549
NM_015214.3(DDHD2):c.557C>T (p.Thr186Met) rs2306899 0.17541
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=) rs16030 0.17482
NM_006073.4(TRDN):c.1257C>A (p.Asp419Glu) rs17737379 0.17356
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218 0.17165
NM_001267550.2(TTN):c.8902+14del rs573000455 0.16798
NM_001267550.2(TTN):c.8902+16del rs570467105 0.16737
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16640
NM_001166114.2(PNPLA6):c.1207G>C (p.Ala403Pro) rs17854645 0.16605
NM_000540.3(RYR1):c.7863C>T (p.His2621=) rs2229142 0.16420
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_000455.5(STK11):c.920+7G>C rs2075607 0.16357
NM_018136.5(ASPM):c.2174-20T>C rs4915344 0.16253
NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=) rs7868941 0.16167
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.15932
NM_001378615.1(CC2D2A):c.124-6C>T rs1861049 0.15686
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215 0.15549
NM_053025.4(MYLK):c.782T>C (p.Val261Ala) rs3796164 0.15515
NM_080473.5(GATA5):c.199A>C (p.Thr67Pro) rs6142775 0.15464
NM_000552.5(VWF):c.6846A>G (p.Thr2282=) rs1053523 0.15412
NM_032119.4(ADGRV1):c.3141A>G (p.Ala1047=) rs950692 0.15398
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870 0.14754
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp) rs16869032 0.14695
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) rs2234962 0.14532
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val) rs1545 0.14147
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser) rs2273285 0.14145
NM_003619.4(PRSS12):c.1816G>T (p.Ala606Ser) rs28661939 0.14124
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025 0.14118
NM_012233.3(RAB3GAP1):c.1793A>G (p.Asn598Ser) rs10445686 0.14088
NM_170784.3(MKKS):c.534C>T (p.Ile178=) rs17852625 0.14082
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717 0.14031
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_001130987.2(DYSF):c.888+11T>C rs13428076 0.13574
NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr) rs6472 0.13352
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023 0.13336
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899 0.13133
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610 0.12981
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889 0.12866
NM_006493.4(CLN5):c.-144C>T rs77416795 0.12832
NM_000265.7(NCF1):c.345C>T (p.Leu115=) rs17356100 0.12720
NM_181882.3(PRX):c.306C>T (p.Thr102=) rs744389 0.12409
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_020320.5(RARS2):c.1704A>G (p.Lys568=) rs8802 0.12189
NM_001734.5(C1S):c.356G>A (p.Arg119His) rs12146727 0.12113
NM_133433.4(NIPBL):c.3575-17A>G rs78827246 0.12109
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056 0.12106
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=) rs16016 0.11927
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg) rs6468694 0.11916
NM_001849.4(COL6A2):c.1609-10C>T rs17357592 0.11879
NM_002335.4(LRP5):c.2220C>T (p.Asn740=) rs2306862 0.11683
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552 0.11428
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg) rs77595156 0.11421
NM_000431.4(MVK):c.155G>A (p.Ser52Asn) rs7957619 0.11415
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946 0.11020
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val) rs3736228 0.10701
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725 0.10682
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138 0.10620
NM_004369.4(COL6A3):c.6945C>T (p.Phe2315=) rs2646265 0.10608
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793 0.10553
NM_000383.4(AIRE):c.1095+6G>A rs1800525 0.10544
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=) rs2646258 0.10531
NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met) rs2295190 0.10350
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968 0.10301
NM_002016.2(FLG):c.6190A>C (p.Lys2064Gln) rs74129455 0.10140
NM_004369.4(COL6A3):c.9213C>T (p.His3071=) rs2270671 0.10029
NM_001130987.2(DYSF):c.951+4T>C rs11903960 0.09951
NM_000142.5(FGFR3):c.445+3A>G rs3135868 0.09950
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013 0.09896
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr) rs62415828 0.09865
NM_001142800.2(EYS):c.4081A>G (p.Ile1361Val) rs17403955 0.09853
NM_001142800.2(EYS):c.4543C>T (p.Arg1515Trp) rs62415827 0.09842
NM_001142800.2(EYS):c.4549A>G (p.Ser1517Gly) rs62415826 0.09832
NM_001378615.1(CC2D2A):c.2003+19C>T rs17476642 0.09677
NM_004360.5(CDH1):c.1937-13T>C rs2276330 0.09635
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala) rs7833870 0.09284
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met) rs2306942 0.09135
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly) rs3729856 0.09064
NM_018249.6(CDK5RAP2):c.4041G>A (p.Leu1347=) rs6478475 0.09053
NM_021023.6(CFHR3):c.721C>T (p.Pro241Ser) rs138675433 0.09012
NM_006514.4(SCN10A):c.1525T>C (p.Ser509Pro) rs7630989 0.08988
NM_001160372.4(TRAPPC9):c.399T>C (p.Ala133=) rs61739560 0.08885
NM_001160372.4(TRAPPC9):c.555G>A (p.Lys185=) rs57593250 0.08881
NM_001160372.4(TRAPPC9):c.357G>A (p.Gly119=) rs34457678 0.08878
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640 0.08558
NM_014363.6(SACS):c.1656A>G (p.Leu552=) rs1536365 0.08543
NM_000186.4(CFH):c.3019G>T (p.Val1007Leu) rs534399 0.08522
NM_001126108.2(SLC12A3):c.2711G>A (p.Arg904Gln) rs11643718 0.08381
NM_000214.3(JAG1):c.2214A>C (p.Thr738=) rs1801140 0.08364
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=) rs3729845 0.08311
NM_000214.3(JAG1):c.267G>A (p.Gly89=) rs1051415 0.08298
NM_000426.4(LAMA2):c.4523+19C>T rs17057158 0.08168
NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln) rs12968116 0.08072
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=) rs16006 0.08064
NM_024306.5(FA2H):c.1039+16T>G rs7193407 0.07963
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr) rs6092 0.07905
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034 0.07860
NM_001267550.2(TTN):c.106275G>C (p.Gly35425=) rs56207956 0.07828
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=) rs1861050 0.07770
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.07737
NM_000222.3(KIT):c.1621A>C (p.Met541Leu) rs3822214 0.07727
NM_001166114.2(PNPLA6):c.765C>T (p.Asn255=) rs591040 0.07584
NM_000197.2(HSD17B3):c.865G>A (p.Gly289Ser) rs2066479 0.07555
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu) rs36117715 0.07538
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg) rs1060742 0.07465
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07445
NM_000363.5(TNNI3):c.150+13G>A rs73617692 0.07353
NM_004369.4(COL6A3):c.8962A>G (p.Met2988Val) rs11690358 0.07295
NM_003476.5(CSRP3):c.336G>A (p.Ala112=) rs13451 0.07238
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=) rs61753724 0.07191
NM_001267550.2(TTN):c.42783A>G (p.Lys14261=) rs16866425 0.07162
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu) rs6723526 0.07129
NM_018249.6(CDK5RAP2):c.480A>C (p.Leu160=) rs3750494 0.07110
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg) rs28711516 0.06950
NM_000214.3(JAG1):c.744A>G (p.Pro248=) rs10485741 0.06947
NM_001368067.1(LDB3):c.504T>C (p.Asp168=) rs76615432 0.06909
NM_004369.4(COL6A3):c.8451A>G (p.Pro2817=) rs61729844 0.06907
NM_004369.4(COL6A3):c.7842C>T (p.Ser2614=) rs34558385 0.06903
NM_004369.4(COL6A3):c.8820G>A (p.Thr2940=) rs11683438 0.06890
NM_012414.4(RAB3GAP2):c.3495G>A (p.Leu1165=) rs11547779 0.06867
NM_012414.4(RAB3GAP2):c.3275G>C (p.Ser1092Thr) rs2289189 0.06844
NM_007078.3(LDB3):c.690-4842G>A rs113445294 0.06823
NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile) rs3737821 0.06797
NM_032119.4(ADGRV1):c.5780C>T (p.Thr1927Met) rs17544552 0.06764
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_014000.3(VCL):c.1506G>A (p.Arg502=) rs2228373 0.06736
NM_004369.4(COL6A3):c.7329C>T (p.Ala2443=) rs10084221 0.06701
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=) rs10201909 0.06660
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_000257.4(MYH7):c.*113G>A rs17794387 0.06427
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile) rs515299 0.06393
NM_001369268.1(ACAN):c.1221C>T (p.Val407=) rs16942341 0.06383
NM_000335.5(SCN5A):c.274-24C>T rs7627488 0.06378
NM_138477.4(CDAN1):c.3450+11C>T rs56046122 0.06311
NM_001458.5(FLNC):c.4700G>A (p.Arg1567Gln) rs2291569 0.06258
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712 0.06133
NM_001927.4(DES):c.578+11G>A rs111548596 0.06130
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801 0.06070
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His) rs10164753 0.06031
NM_002470.4(MYH3):c.2106C>T (p.Gly702=) rs56259391 0.05968
NM_002470.4(MYH3):c.2610A>G (p.Lys870=) rs56163389 0.05967
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) rs3730238 0.05965
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln) rs11896521 0.05751
NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly) rs56389778 0.05750
NM_001009944.3(PKD1):c.12409C>T (p.Leu4137=) rs79899502 0.05705
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn) rs11888217 0.05644
NM_032545.4(CFC1):c.140G>A (p.Arg47Gln) rs201431919 0.05582
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_144670.6(A2ML1):c.3569C>T (p.Ala1190Val) rs73040625 0.05426
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05381
NM_007078.3(LDB3):c.1231+30C>G rs11597201 0.05370
NM_025114.4(CEP290):c.442-19T>A rs113132803 0.05334
NM_004519.4(KCNQ3):c.732T>C (p.Gly244=) rs41272387 0.05313
NM_004519.4(KCNQ3):c.660T>C (p.Asn220=) rs41272389 0.05312
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092 0.05306
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519 0.05277
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_005677.4(COLQ):c.934A>G (p.Ser312Gly) rs6782980 0.05224
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339 0.05158
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=) rs41317939 0.05124
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=) rs4894045 0.05021
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg) rs4893853 0.05020
NM_002016.2(FLG):c.2857G>C (p.Glu953Gln) rs201137357 0.05019
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036 0.05002
NM_024675.4(PALB2):c.-47G>A rs8053188 0.04991
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239 0.04939
NM_000218.3(KCNQ1):c.478-10G>A rs28730752 0.04910
NM_001369268.1(ACAN):c.306C>A (p.Asp102Glu) rs16942318 0.04874
NM_018075.5(ANO10):c.1682C>T (p.Thr561Met) rs17409162 0.04859
NM_000257.4(MYH7):c.2923-18G>A rs7157087 0.04825
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929 0.04795
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) rs3219484 0.04794
NM_001143992.2(WRAP53):c.1308T>C (p.Ala436=) rs34016213 0.04793
NM_015346.4(ZFYVE26):c.3365C>T (p.Ala1122Val) rs3742884 0.04741
NM_012414.4(RAB3GAP2):c.2587A>G (p.Thr863Ala) rs12045447 0.04740
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=) rs17722172 0.04733
NM_015346.4(ZFYVE26):c.3308C>T (p.Pro1103Leu) rs3742885 0.04730
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_032638.5(GATA2):c.564G>C (p.Thr188=) rs34870876 0.04681
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185 0.04642
NM_001854.4(COL11A1):c.2043+8G>A rs2622875 0.04635
NM_002230.4(JUP):c.1653+10C>A rs73983658 0.04634
NM_173660.5(DOK7):c.753G>A (p.Ala251=) rs59932476 0.04559
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=) rs2228490 0.04552
NM_001267550.2(TTN):c.88272G>A (p.Glu29424=) rs9808036 0.04549
NM_005477.3(HCN4):c.107G>A (p.Gly36Glu) rs143090627 0.04452
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04399
NM_001851.6(COL9A1):c.2299A>G (p.Met767Val) rs6910140 0.04394
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607 0.04393
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=) rs58465962 0.04390
NM_000492.4(CFTR):c.-8G>C rs1800501 0.04368
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_005677.4(COLQ):c.366+7A>G rs750387 0.04329
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_001105206.3(LAMA4):c.460C>T (p.Arg154Trp) rs11757455 0.04245
NM_001009944.3(PKD1):c.10225G>C (p.Val3409Leu) rs61747420 0.04243
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile) rs41309927 0.04225
NM_001614.5(ACTG1):c.1026T>C (p.Gly342=) rs1139406 0.04214
NM_032545.4(CFC1):c.61A>C (p.Asn21His) rs199607550 0.04207
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=) rs35959206 0.04188
NM_001614.5(ACTG1):c.1014G>A (p.Ser338=) rs1139807 0.04188
NM_001009944.3(PKD1):c.5827G>A (p.Val1943Ile) rs137978188 0.04174
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657 0.04171
NM_207346.3(TSEN54):c.568G>A (p.Val190Met) rs79508780 0.04141
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998 0.04075
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893 0.04049
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) rs112723255 0.04015
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129 0.04009
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976 0.03996
NM_015346.4(ZFYVE26):c.3118T>A (p.Ser1040Thr) rs112787369 0.03993
NM_001267550.2(TTN):c.98912G>A (p.Arg32971His) rs4894028 0.03961
NM_001009944.3(PKD1):c.1023C>T (p.Ala341=) rs11643513 0.03937
NM_015311.3(OBSL1):c.1102C>T (p.Arg368Cys) rs35009641 0.03933
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_001009944.3(PKD1):c.3111A>G (p.Leu1037=) rs2099534 0.03878
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_144670.6(A2ML1):c.2868C>T (p.Ala956=) rs56179521 0.03852
NM_001035.3(RYR2):c.13564-41A>G rs114289907 0.03849
NM_001165963.4(SCN1A):c.2176+17A>G rs59251406 0.03846
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862 0.03791
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03789
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln) rs56181447 0.03706
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_003919.3(SGCE):c.1253+812G>A rs559235992 0.03668
NM_012414.4(RAB3GAP2):c.2088A>G (p.Thr696=) rs2577126 0.03652
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324 0.03639
NM_001308093.3(GATA4):c.1059C>T (p.Asn353=) rs3729855 0.03634
NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=) rs17846714 0.03612
NM_032545.4(CFC1):c.588C>A (p.Pro196=) rs587780885 0.03574
NM_001849.4(COL6A2):c.714+9C>T rs78822624 0.03565
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_144997.7(FLCN):c.1233G>A (p.Glu411=) rs61750032 0.03557
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile) rs67665715 0.03523
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr) rs11896637 0.03502
NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly) rs12406479 0.03481
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser) rs3742030 0.03470
NM_001009944.3(PKD1):c.8913T>C (p.Ala2971=) rs9926309 0.03447
NM_181741.4(ORC4):c.166C>G (p.Leu56Val) rs2307397 0.03439
NM_001927.4(DES):c.736-35C>A rs41272701 0.03434
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=) rs16978875 0.03433
NM_001458.5(FLNC):c.3838C>T (p.Leu1280=) rs34180031 0.03419
NM_001101.5(ACTB):c.942G>A (p.Gln314=) rs11546939 0.03418
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529 0.03418
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463 0.03414
NM_013275.6(ANKRD11):c.6787C>T (p.Pro2263Ser) rs76793093 0.03409
NM_001287.6(CLCN7):c.900G>A (p.Ala300=) rs41286695 0.03405
NM_000363.5(TNNI3):c.198G>A (p.Glu66=) rs3729710 0.03372
NM_004360.5(CDH1):c.48+5C>G rs77312180 0.03370
NM_025137.4(SPG11):c.3420G>A (p.Leu1140=) rs36014111 0.03348
NM_000702.4(ATP1A2):c.1652-11C>G rs17846713 0.03344
NM_000257.4(MYH7):c.1605A>G (p.Glu535=) rs2069543 0.03319
NM_001009944.3(PKD1):c.8949-20G>A rs9936029 0.03318
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln) rs2066518 0.03294
NM_182961.4(SYNE1):c.22473G>A (p.Leu7491=) rs34891041 0.03277
NM_025243.4(SLC19A3):c.520G>A (p.Val174Ile) rs59736804 0.03276
NM_000540.3(RYR1):c.12094+11A>G rs73933018 0.03267
NM_001848.3(COL6A1):c.1773G>A (p.Pro591=) rs74852641 0.03265
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419 0.03262
NM_000062.3(SERPING1):c.-21T>C rs28362944 0.03250
NM_033380.3(COL4A5):c.3519T>G (p.Gly1173=) rs61735627 0.03239
NM_003476.5(CSRP3):c.150G>A (p.Ala50=) rs7124801 0.03207
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_001009944.3(PKD1):c.8948+17A>G rs9928442 0.03177
NM_012330.4(KAT6B):c.4495G>A (p.Val1499Ile) rs3740321 0.03151
NM_001009944.3(PKD1):c.1714C>T (p.Pro572Ser) rs149022148 0.03132
NM_002474.3(MYH11):c.5370C>T (p.Leu1790=) rs35295469 0.03116
NM_000540.3(RYR1):c.2871-5C>T rs45585535 0.03110
NM_015346.4(ZFYVE26):c.7232G>A (p.Arg2411His) rs34373049 0.03090
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_144672.4(OTOA):c.2229C>T (p.Ala743=) rs461179 0.03046
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03031
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=) rs61741123 0.03029
NM_000489.6(ATRX):c.228G>A (p.Ser76=) rs5959371 0.03016
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179 0.03009
NM_002474.3(MYH11):c.792T>C (p.Tyr264=) rs34341838 0.03006
NM_001848.3(COL6A1):c.2435-19C>T rs115181427 0.03003
NM_001458.5(FLNC):c.1614C>T (p.Tyr538=) rs76046880 0.02993
NM_002693.3(POLG):c.2958C>T (p.Tyr986=) rs2307431 0.02985
NM_016341.4(PLCE1):c.1405T>A (p.Ser469Thr) rs17508082 0.02979
NM_000540.3(RYR1):c.4107C>T (p.Pro1369=) rs11882640 0.02972
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_024596.5(MCPH1):c.1728C>T (p.Gly576=) rs41313954 0.02943
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val) rs17355446 0.02915
NM_000096.4(CP):c.2554+17G>A rs35593818 0.02896
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720 0.02889
NM_001267550.2(TTN):c.32393-12A>G rs16866434 0.02884
NM_001009944.3(PKD1):c.7642G>C (p.Glu2548Gln) rs28369051 0.02881
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_198525.3(KIF7):c.2043T>A (p.Val681=) rs72750755 0.02861
NM_001848.3(COL6A1):c.2781C>T (p.Tyr927=) rs61735853 0.02858
NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala) rs34536443 0.02850
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys) rs80109666 0.02845
NM_000051.4(ATM):c.657T>C (p.Cys219=) rs2235003 0.02841
NM_000426.4(LAMA2):c.6167C>A (p.Thr2056Lys) rs73775407 0.02812
NM_001458.5(FLNC):c.5669-12C>T rs79790270 0.02786
NM_001267550.2(TTN):c.36299A>T (p.Glu12100Val) rs73973133 0.02781
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=) rs34509421 0.02777
NM_001379110.1(SLC9A6):c.1689C>T (p.Ser563=) rs2307131 0.02758
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626 0.02731
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_000092.5(COL4A4):c.2165-15T>G rs60344965 0.02703
NM_004820.5(CYP7B1):c.971G>A (p.Arg324His) rs59035258 0.02701
NM_021625.5(TRPV4):c.2459-9T>G rs115373018 0.02700
NM_000092.5(COL4A4):c.2276C>T (p.Pro759Leu) rs36121515 0.02697
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114 0.02697
NM_007078.3(LDB3):c.1074C>T (p.Ala358=) rs45459491 0.02688
NM_001849.4(COL6A2):c.679G>A (p.Asp227Asn) rs35881321 0.02685
NM_004369.4(COL6A3):c.9123G>A (p.Thr3041=) rs61729843 0.02678
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_001283009.2(RTEL1):c.2785G>A (p.Ala929Thr) rs61736615 0.02652
NM_000080.4(CHRNE):c.53G>T (p.Gly18Val) rs4790235 0.02635
NM_004369.4(COL6A3):c.1313-17A>G rs7579816 0.02624
NM_002661.5(PLCG2):c.770A>T (p.His257Leu) rs45443101 0.02615
NM_001267550.2(TTN):c.8116+19G>A rs13011633 0.02607
NM_004415.4(DSP):c.1903+7T>C rs28763962 0.02605
NM_000455.5(STK11):c.816C>T (p.Tyr272=) rs9282859 0.02603
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179 0.02602
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu) rs73996414 0.02579
NM_182961.4(SYNE1):c.22452A>G (p.Ser7484=) rs36044575 0.02562
NM_024334.3(TMEM43):c.163-14C>T rs113745859 0.02553
NM_018249.6(CDK5RAP2):c.5418C>T (p.Pro1806=) rs3739822 0.02551
NM_001035.3(RYR2):c.8437-7dup rs148246251 0.02544
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075 0.02537
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) rs45516100 0.02529
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713 0.02528
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02522
NM_001386125.1(OBSCN):c.2894G>A (p.Arg965Lys) rs61560753 0.02514
NM_003482.4(KMT2D):c.15978T>G (p.Leu5326=) rs55776396 0.02513
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874 0.02502
NM_001171.6(ABCC6):c.2224A>G (p.Ile742Val) rs59593133 0.02501
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678 0.02490
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_182895.5(SCARF2):c.1967C>T (p.Pro656Leu) rs9680797 0.02487
NM_002470.4(MYH3):c.5457+3G>A rs200954595 0.02449
NM_003482.4(KMT2D):c.12028T>C (p.Ser4010Pro) rs80132640 0.02449
NM_000441.2(SLC26A4):c.1708-18T>A rs55701254 0.02432
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768 0.02431
NM_000069.3(CACNA1S):c.2063+7G>T rs79984703 0.02430
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=) rs34181055 0.02427
NM_003482.4(KMT2D):c.248G>A (p.Arg83Gln) rs55865069 0.02422
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_013266.4(CTNNA3):c.1655C>T (p.Thr552Met) rs61737718 0.02389
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=) rs61004744 0.02387
NM_001852.4(COL9A2):c.364-8C>T rs11207843 0.02379
NM_000257.4(MYH7):c.895+17G>A rs45580436 0.02377
NM_005677.4(COLQ):c.1248C>T (p.Asp416=) rs55866379 0.02373
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His) rs72648970 0.02369
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136 0.02367
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu) rs13021201 0.02363
NM_173660.5(DOK7):c.589G>A (p.Asp197Asn) rs16844422 0.02362
NM_001377.3(DYNC2H1):c.4728C>G (p.Asn1576Lys) rs72989738 0.02353
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=) rs73036398 0.02352
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_133642.5(LARGE1):c.576C>T (p.Pro192=) rs36002910 0.02334
NM_133379.5(TTN):c.13476C>T (p.Asp4492=) rs72648904 0.02326
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_000054.7(AVPR2):c.35G>A (p.Gly12Glu) rs2071126 0.02308
NM_000426.4(LAMA2):c.8028T>C (p.Asn2676=) rs35313209 0.02285
NM_000142.5(FGFR3):c.615+8C>G rs17878375 0.02283
NM_000334.4(SCN4A):c.3720+10A>G rs111679484 0.02281
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_000540.3(RYR1):c.5622A>G (p.Glu1874=) rs35021937 0.02251
NM_000264.5(PTCH1):c.735A>G (p.Thr245=) rs1805154 0.02243
NM_005257.6(GATA6):c.43G>C (p.Gly15Arg) rs116262672 0.02238
NM_004260.4(RECQL4):c.1258+6A>T rs34437789 0.02229
NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr) rs34225933 0.02221
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_003227.4(TFR2):c.2255G>A (p.Arg752His) rs41295942 0.02204
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=) rs11913417 0.02196
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521 0.02188
NM_014855.3(AP5Z1):c.1708-14C>T rs118139547 0.02183
NM_022455.5(NSD1):c.7636G>A (p.Ala2546Thr) rs78247455 0.02182
NM_000214.3(JAG1):c.2917-30A>G rs6108652 0.02177
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_002470.4(MYH3):c.4155A>G (p.Glu1385=) rs58343499 0.02173
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_024675.4(PALB2):c.212-58A>C rs80291632 0.02171
NM_000051.4(ATM):c.2639-17G>T rs2234994 0.02161
NM_001267550.2(TTN):c.15717G>A (p.Thr5239=) rs72648932 0.02158
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
NM_000540.3(RYR1):c.11754T>A (p.Thr3918=) rs45613041 0.02154
NM_000540.3(RYR1):c.11908-14A>G rs2292799 0.02149
NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu) rs4802584 0.02143
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=) rs35445420 0.02143
NM_000540.3(RYR1):c.11260-19T>G rs4802583 0.02140
NM_002470.4(MYH3):c.3938C>T (p.Thr1313Ile) rs35230241 0.02138
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile) rs55675869 0.02132
NM_001364905.1(LRBA):c.5989C>T (p.Arg1997Cys) rs35879351 0.02129
NM_000222.3(KIT):c.2394C>T (p.Ile798=) rs55789615 0.02125
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508 0.02125
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=) rs28730712 0.02116
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=) rs56034831 0.02114
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000091.5(COL4A3):c.3751+66C>T rs55843236 0.02109
NM_001267550.2(TTN):c.12117C>T (p.Pro4039=) rs55895721 0.02109
NM_020433.5(JPH2):c.1289-7C>T rs116986535 0.02105
NM_000144.5(FXN):c.-7G>A rs145006100 0.02101
NM_004260.4(RECQL4):c.3393+9A>G rs4251692 0.02095
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly) rs72648982 0.02056
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=) rs13879 0.02053
NM_000142.5(FGFR3):c.1076-17C>T rs17881967 0.02051
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) rs111840875 0.02050
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_002608.4(PDGFB):c.453C>G (p.Val151=) rs55634318 0.02038
NM_000069.3(CACNA1S):c.2748C>T (p.His916=) rs2297902 0.02034
NM_145239.3(PRRT2):c.*55C>A rs141436390 0.02027
NM_002292.4(LAMB2):c.306C>T (p.Asn102=) rs79448908 0.02014
NM_001267550.2(TTN):c.86811A>G (p.Val28937=) rs55972010 0.02012
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249 0.02007
NM_000179.3(MSH6):c.2253T>C (p.Asn751=) rs2020913 0.02003
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=) rs11694623 0.01999
NM_001267550.2(TTN):c.87669T>C (p.His29223=) rs72648229 0.01997
NM_001267550.2(TTN):c.87087T>C (p.Leu29029=) rs12621078 0.01996
NM_001035.3(RYR2):c.11557+19C>T rs113408406 0.01994
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245 0.01993
NM_033118.4(MYLK2):c.1082+11G>A rs76530988 0.01993
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala) rs56018860 0.01992
NM_001267550.2(TTN):c.91852+8T>A rs56145100 0.01992
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly) rs72648257 0.01992
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212 0.01991
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser) rs3813246 0.01989
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=) rs3813247 0.01986
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile) rs56309296 0.01985
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr) rs56365600 0.01984
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys) rs56057221 0.01984
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr) rs35274867 0.01982
NM_001267550.2(TTN):c.95553C>T (p.Ser31851=) rs72648260 0.01980
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=) rs56214710 0.01979
NM_001927.4(DES):c.-30_-18dup rs794728983 0.01968
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=) rs2960319 0.01964
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=) rs72851170 0.01961
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=) rs72648950 0.01956
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369 0.01950
NM_001037.5(SCN1B):c.501T>C (p.Ile167=) rs16969930 0.01942
NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser) rs117781224 0.01941
NM_153700.2(STRC):c.3360T>C (p.Cys1120=) rs56385906 0.01920
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser) rs72650006 0.01917
NM_013266.4(CTNNA3):c.478T>A (p.Ser160Thr) rs61749223 0.01916
NM_001844.5(COL2A1):c.610-7G>A rs7967258 0.01915
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_133379.5(TTN):c.13869T>G (p.Ser4623=) rs72648906 0.01910
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145 0.01900
NM_001364905.1(LRBA):c.2170A>G (p.Ile724Val) rs72719663 0.01896
NM_018075.5(ANO10):c.788G>A (p.Arg263His) rs41289586 0.01896
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu) rs2229792 0.01881
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=) rs72648983 0.01872
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_014476.6(PDLIM3):c.734C>T (p.Thr245Ile) rs62347360 0.01871
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888 0.01867
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01865
NM_014391.3(ANKRD1):c.346-15T>A rs11595794 0.01849
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_032578.4(MYPN):c.2410G>A (p.Gly804Arg) rs62620248 0.01839
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_004369.4(COL6A3):c.3071-16G>A rs73998896 0.01822
NM_022455.5(NSD1):c.2071G>A (p.Ala691Thr) rs28932177 0.01809
NM_006514.4(SCN10A):c.3133C>A (p.Pro1045Thr) rs73062575 0.01804
NM_001267550.2(TTN):c.10850C>T (p.Ser3617Phe) rs57389274 0.01798
NM_001039.4(SCNN1G):c.636C>T (p.Ser212=) rs5739 0.01794
NM_001848.3(COL6A1):c.1957-5C>T rs78224483 0.01793
NM_000540.3(RYR1):c.12624+14C>T rs75797287 0.01777
NM_000500.9(CYP21A2):c.*13G>A rs6447 0.01770
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_001267550.2(TTN):c.22611T>C (p.His7537=) rs16866469 0.01765
NM_017636.4(TRPM4):c.3641-19C>G rs7256050 0.01753
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=) rs16029 0.01749
NM_007214.5(SEC63):c.2027C>T (p.Thr676Ile) rs61733388 0.01749
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val) rs80243096 0.01747
NM_030787.4(CFHR5):c.1067G>A (p.Arg356His) rs35662416 0.01746
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_003212.4(CRIPTO):c.331C>G (p.Arg111Gly) rs34501971 0.01743
NM_000083.3(CLCN1):c.2284+5C>T rs74824159 0.01735
NM_000426.4(LAMA2):c.1491T>C (p.Cys497=) rs2306220 0.01733
NR_001566.1(TERC):n.58G>A rs113487931 0.01733
NM_019098.5(CNGB3):c.80A>G (p.Asn27Ser) rs35807406 0.01728
NM_000426.4(LAMA2):c.8124T>A (p.Gly2708=) rs34997144 0.01727
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile) rs56027402 0.01724
NM_133379.5(TTN):c.13165G>A (p.Val4389Ile) rs72648903 0.01724
NM_000245.4(MET):c.1124A>G (p.Asn375Ser) rs33917957 0.01723
NM_003476.5(CSRP3):c.312C>G (p.Thr104=) rs45582433 0.01721
NM_001105206.3(LAMA4):c.280G>A (p.Gly94Ser) rs35349917 0.01717
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174 0.01708
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995 0.01693
NM_000256.3(MYBPC3):c.926+25C>A rs3729991 0.01693
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956 0.01688
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851 0.01678
NM_001852.4(COL9A2):c.955-4C>G rs118135975 0.01678
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys) rs77697105 0.01678
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948 0.01676
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_001267550.2(TTN):c.36855G>A (p.Pro12285=) rs535294541 0.01666
NM_004252.5(NHERF1):c.328C>G (p.Leu110Val) rs35910969 0.01664
NM_025243.4(SLC19A3):c.42C>T (p.Tyr14=) rs34080459 0.01664
NM_000142.5(FGFR3):c.1075+5C>T rs3135885 0.01659
NM_002354.2(EPCAM):c.*265A>T rs11554292 0.01658
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys) rs72648987 0.01656
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_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01651
NM_001283009.2(RTEL1):c.3101C>A (p.Pro1034His) rs115610405 0.01644
NM_001171.6(ABCC6):c.2171G>A (p.Arg724Lys) rs58073789 0.01638
NM_004360.5(CDH1):c.2634C>T (p.Gly878=) rs2229044 0.01638
NM_001134831.2(AHI1):c.2624-6A>G rs41288015 0.01635
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val) rs56376197 0.01633
NM_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808 0.01628
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe) rs33917087 0.01611
NM_015346.4(ZFYVE26):c.6987-3C>T rs76728509 0.01610
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_152296.5(ATP1A3):c.994-20T>G rs138485069 0.01603
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=) rs142518033 0.01592
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407 0.01591
NM_000186.4(CFH):c.477T>C (p.Ser159=) rs34940854 0.01586
NM_024596.5(MCPH1):c.634G>A (p.Ala212Thr) rs2922828 0.01586
NM_000069.3(CACNA1S):c.3525+18C>T rs56021911 0.01583
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920 0.01583
NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=) rs118191062 0.01583
NM_007194.4(CHEK2):c.1542+11T>A rs17881716 0.01583
NM_001267550.2(TTN):c.62178T>C (p.Thr20726=) rs72646847 0.01577
NM_000051.4(ATM):c.2125-68T>C rs2235008 0.01573
NM_001197104.2(KMT2A):c.89C>G (p.Ala30Gly) rs9332745 0.01573
NM_014384.3(ACAD8):c.512C>G (p.Ser171Cys) rs113488591 0.01568
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=) rs2230158 0.01567
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_001614.5(ACTG1):c.729C>T (p.Pro243=) rs2230159 0.01563
NM_000256.3(MYBPC3):c.1897+47G>A rs11570086 0.01559
NM_006073.4(TRDN):c.1620A>G (p.Ile540Met) rs7771303 0.01556
NM_000048.4(ASL):c.718+14A>T rs117035302 0.01554
NM_007078.3(LDB3):c.609G>A (p.Ser203=) rs45531131 0.01554
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys) rs80356569 0.01549
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) rs6725673 0.01548
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038 0.01548
NM_001105206.3(LAMA4):c.4646A>G (p.Asn1549Ser) rs12110554 0.01544
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_004168.4(SDHA):c.1664-8G>A rs199790689 0.01533
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_002473.6(MYH9):c.3838-12C>T rs113698937 0.01529
NM_001267550.2(TTN):c.52706-17A>G rs72646807 0.01524
NM_004369.4(COL6A3):c.6157-16G>A rs112637114 0.01524
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_001458.5(FLNC):c.8121T>C (p.Ile2707=) rs28437296 0.01520
NM_000186.4(CFH):c.245-7G>A rs35814900 0.01519
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=) rs66523653 0.01518
NM_001369268.1(ACAN):c.6009T>C (p.Tyr2003=) rs35676128 0.01518
NM_001458.5(FLNC):c.1374C>T (p.Pro458=) rs115140972 0.01514
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01511
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys) rs62618736 0.01503
NM_023110.3(FGFR1):c.2187-6C>T rs4647904 0.01503
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01499
NM_001369268.1(ACAN):c.5800G>C (p.Val1934Leu) rs76282091 0.01498
NM_015338.6(ASXL1):c.374-9C>T rs6087903 0.01488
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489 0.01481
NM_000124.4(ERCC6):c.528A>G (p.Arg176=) rs4253027 0.01480
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys) rs79926414 0.01477
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) rs45555435 0.01476
NM_001458.5(FLNC):c.8118C>T (p.Leu2706=) rs28379666 0.01465
NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met) rs35737219 0.01462
NM_001374828.1(ARID1B):c.1927A>G (p.Ile643Val) rs17318151 0.01456
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213 0.01455
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196 0.01445
NM_001276345.2(TNNT2):c.163+12G>A rs45580032 0.01441
NM_001374353.1(GLI2):c.963C>G (p.Pro321=) rs149894186 0.01440
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097 0.01438
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val) rs16866391 0.01426
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01418
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076 0.01409
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=) rs116888435 0.01403
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=) rs2303836 0.01401
NM_002471.4(MYH6):c.3979-7del rs397516766 0.01401
NM_000051.4(ATM):c.6095+15T>C rs3212321 0.01395
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01393
NM_000051.4(ATM):c.2685A>G (p.Leu895=) rs3218687 0.01393
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230 0.01390
NM_004369.4(COL6A3):c.9411T>C (p.Cys3137=) rs112290343 0.01385
NM_007294.4(BRCA1):c.*36C>G rs3092995 0.01385
NM_000048.4(ASL):c.1164C>T (p.His388=) rs75300185 0.01380
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_000204.5(CFI):c.482+14T>A rs76014294 0.01365
NM_024422.6(DSC2):c.2251-27C>A rs151289743 0.01365
NM_000257.4(MYH7):c.1408-42del rs45490796 0.01363
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595 0.01363
NM_000335.5(SCN5A):c.1302C>T (p.Phe434=) rs41313699 0.01360
NM_001267550.2(TTN):c.10700G>A (p.Ser3567Asn) rs72955213 0.01357
NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=) rs533485167 0.01351
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile) rs16866457 0.01351
NM_032545.4(CFC1):c.606G>C (p.Leu202=) rs587780887 0.01351
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val) rs34070843 0.01345
NM_006514.4(SCN10A):c.618A>G (p.Ile206Met) rs74717885 0.01345
NM_002838.5(PTPRC):c.1710T>A (p.His570Gln) rs12136658 0.01344
NM_002471.4(MYH6):c.399G>A (p.Val133=) rs78891557 0.01343
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968 0.01341
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val) rs55948748 0.01336
NM_001035.3(RYR2):c.6928+4G>A rs79862521 0.01335
NM_001276345.2(TNNT2):c.851+22C>T rs45495692 0.01327
NM_000498.3(CYP11B2):c.606A>G (p.Leu202=) rs113284476 0.01323
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876 0.01322
NM_006231.4(POLE):c.91G>T (p.Ala31Ser) rs34047482 0.01320
NM_004525.3(LRP2):c.3452C>T (p.Pro1151Leu) rs150552608 0.01319
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285 0.01316
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816 0.01311
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys) rs72646869 0.01305
NM_000552.5(VWF):c.5843-8C>G rs34444862 0.01303
NM_001289808.2(CRYAB):c.165G>A (p.Leu55=) rs2228387 0.01303
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met) rs16866475 0.01294
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=) rs56226196 0.01290
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val) rs3759873 0.01282
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572 0.01280
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=) rs35932349 0.01279
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_004621.6(TRPC6):c.-10C>A rs191383391 0.01276
NM_001159699.2(FHL1):c.737-13T>C rs11798700 0.01269
NM_025137.4(SPG11):c.1347C>T (p.Thr449=) rs3759874 0.01269
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=) rs16866467 0.01263
NM_003394.4(WNT10B):c.901C>T (p.Pro301Ser) rs35034312 0.01260
NM_003119.4(SPG7):c.9G>T (p.Val3=) rs553241838 0.01255
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949 0.01253
NM_003476.5(CSRP3):c.415-30T>C rs7103779 0.01252
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_000540.3(RYR1):c.12012+19T>C rs181590606 0.01243
NM_014967.5(FAN1):c.2680C>T (p.Pro894Ser) rs80120912 0.01243
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813 0.01242
NM_000096.4(CP):c.2378G>A (p.Arg793His) rs115552500 0.01239
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu) rs79708848 0.01235
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_001458.5(FLNC):c.6004+19G>A rs12530507 0.01231
NM_000092.5(COL4A4):c.559-21A>G rs56306477 0.01229
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_002878.4(RAD51D):c.903+53C>T rs45496096 0.01225
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=) rs16012 0.01217
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=) rs41276894 0.01215
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser) rs72629779 0.01213
NM_004369.4(COL6A3):c.1389C>T (p.Ala463=) rs112896869 0.01203
NM_000092.5(COL4A4):c.3818-45T>A rs55886181 0.01195
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615 0.01194
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913 0.01192
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=) rs55977045 0.01192
NM_001276345.2(TNNT2):c.42-20G>A rs45561443 0.01192
NM_004525.3(LRP2):c.13250G>A (p.Gly4417Asp) rs41268685 0.01191
NM_001283009.2(RTEL1):c.2051G>A (p.Arg684Gln) rs35640778 0.01190
NM_152296.5(ATP1A3):c.2264-16C>T rs149116776 0.01189
NM_145046.5(CALR3):c.861G>A (p.Thr287=) rs118131979 0.01186
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile) rs72650028 0.01184
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=) rs67041405 0.01183
NM_000092.5(COL4A4):c.2717-5A>T rs1800519 0.01182
NM_000094.4(COL7A1):c.6696C>A (p.Pro2232=) rs61729223 0.01181
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920 0.01176
NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn) rs151315725 0.01175
NM_182961.4(SYNE1):c.22516A>G (p.Ser7506Gly) rs35763277 0.01174
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg) rs17355460 0.01172
NM_001614.5(ACTG1):c.177G>A (p.Gln59=) rs11549220 0.01161
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476 0.01161
NM_000257.4(MYH7):c.3972+15C>T rs3729820 0.01159
NM_003722.5(TP63):c.1652+14A>C rs150685395 0.01158
NM_000064.4(C3):c.783C>T (p.Tyr261=) rs2230200 0.01155
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro) rs62621206 0.01151
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371 0.01150
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr) rs55880440 0.01150
NM_004369.4(COL6A3):c.768C>T (p.Val256=) rs79606264 0.01148
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232 0.01146
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=) rs114145817 0.01143
NM_001367805.3(KIF23):c.1585T>C (p.Phe529Leu) rs17310879 0.01142
NM_001267550.2(TTN):c.36489G>A (p.Ala12163=) rs115493456 0.01140
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298 0.01139
NM_015338.6(ASXL1):c.2513A>G (p.Lys838Arg) rs35632616 0.01138
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) rs41303257 0.01136
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=) rs11574895 0.01135
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_017636.4(TRPM4):c.3082C>T (p.Leu1028=) rs79286201 0.01125
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) rs59291670 0.01123
NM_001035.3(RYR2):c.10230+20T>C rs74323916 0.01122
NM_001171.6(ABCC6):c.4208+9G>A rs58760581 0.01119
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=) rs72648935 0.01116
NM_002234.4(KCNA5):c.751G>A (p.Ala251Thr) rs12720442 0.01115
NM_000051.4(ATM):c.6572+12G>T rs3218677 0.01112
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073 0.01112
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_153676.4(USH1C):c.819+10G>C rs41282936 0.01105
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly) rs28363284 0.01102
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379 0.01097
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu) rs77853750 0.01096
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met) rs55865284 0.01093
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
NM_182961.4(SYNE1):c.10522T>C (p.Leu3508=) rs62426382 0.01086
NM_000051.4(ATM):c.735C>T (p.Val245=) rs3218674 0.01085
NM_004369.4(COL6A3):c.4727G>A (p.Arg1576Gln) rs61729839 0.01085
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser) rs67254537 0.01080
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val) rs66961115 0.01079
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr) rs36049418 0.01075
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=) rs56375087 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_130797.4(DPP6):c.227A>T (p.Asp76Val) rs572667303 0.01073
NM_006005.3(WFS1):c.1800C>T (p.Thr600=) rs71524362 0.01070
NM_001267550.2(TTN):c.11019C>T (p.Cys3673=) rs72955212 0.01069
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) rs1805069 0.01068
NM_001276345.2(TNNT2):c.294+7G>A rs45490292 0.01066
NM_013266.4(CTNNA3):c.1603C>T (p.Arg535Cys) rs41274090 0.01060
NM_032578.4(MYPN):c.2447C>T (p.Pro816Leu) rs111965755 0.01059
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758 0.01056
NM_000059.4(BRCA2):c.8487+19A>G rs11571743 0.01055
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala) rs16019 0.01053
NM_002471.4(MYH6):c.2946G>A (p.Glu982=) rs145274612 0.01048
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902 0.01045
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_052989.3(IFT122):c.1943A>C (p.Glu648Ala) rs144397126 0.01035
NM_001017995.3(SH3PXD2B):c.986C>T (p.Pro329Leu) rs75198607 0.01032
NM_001458.5(FLNC):c.2266-14G>C rs75612085 0.01030
NM_001035.3(RYR2):c.2397-6C>T rs78165942 0.01029
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His) rs35523678 0.01028
NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707 0.01025
NM_001184.4(ATR):c.5868C>T (p.Tyr1956=) rs112018640 0.01020
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile) rs72646850 0.01020
NM_007294.4(BRCA1):c.212+23T>A rs8176128 0.01018
NM_000096.4(CP):c.2286-12T>G rs183671127 0.01016
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_001848.3(COL6A1):c.2441A>G (p.Lys814Arg) rs11553518 0.01008
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) rs55961436 0.01005
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01003
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe) rs140118273 0.00997
NM_144670.6(A2ML1):c.2252C>T (p.Ala751Val) rs61741216 0.00991
NM_007078.3(LDB3):c.1231+24G>A rs45477098 0.00986
NM_014363.6(SACS):c.10305T>C (p.Ser3435=) rs35670472 0.00986
NM_152246.3(CPT1B):c.1876-15A>G rs41309651 0.00986
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val) rs142735148 0.00983
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141 0.00982
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_052989.3(IFT122):c.1854C>T (p.Ser618=) rs146874343 0.00981
NM_000064.4(C3):c.4457-5C>T rs344554 0.00979
NM_014363.6(SACS):c.12762C>T (p.Ser4254=) rs11554397 0.00978
NM_000546.6(TP53):c.108G>A (p.Pro36=) rs1800370 0.00974
NM_002661.5(PLCG2):c.82A>T (p.Met28Leu) rs61749044 0.00973
NM_006767.4(LZTR1):c.2219+13C>T rs144005025 0.00972
NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val) rs149140724 0.00970
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_015346.4(ZFYVE26):c.5612G>A (p.Cys1871Tyr) rs61746722 0.00962
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu) rs1007211 0.00957
NM_025137.4(SPG11):c.4810T>C (p.Phe1604Leu) rs116807842 0.00956
NM_001018005.2(TPM1):c.851+99dup rs201411148 0.00955
NM_020964.3(EPG5):c.1271G>A (p.Ser424Asn) rs117817123 0.00946
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
NM_014946.4(SPAST):c.879G>A (p.Pro293=) rs145264166 0.00943
NM_005957.5(MTHFR):c.1476G>A (p.Pro492=) rs35653697 0.00937
NM_000051.4(ATM):c.3993+40G>A rs3218709 0.00933
NM_002471.4(MYH6):c.3627C>T (p.Ile1209=) rs147871745 0.00930
NM_002471.4(MYH6):c.3480C>T (p.Ser1160=) rs373345984 0.00929
NM_170707.4(LMNA):c.1158-44C>T rs141879453 0.00929
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln) rs112545413 0.00927
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_015338.6(ASXL1):c.3306G>T (p.Glu1102Asp) rs139115934 0.00916
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) rs62178963 0.00915
NM_000552.5(VWF):c.5313G>T (p.Gly1771=) rs2229448 0.00914
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu) rs72629787 0.00909
NM_004035.7(ACOX1):c.1771C>T (p.Arg591Cys) rs35629489 0.00908
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_006073.4(TRDN):c.403G>A (p.Glu135Lys) rs192289289 0.00900
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991 0.00898
NM_001377.3(DYNC2H1):c.4968+18G>A rs144263658 0.00894
NM_001374353.1(GLI2):c.-7G>A rs112131051 0.00890
NM_194248.3(OTOF):c.710+10C>T rs55639868 0.00890
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301 0.00881
NM_000540.3(RYR1):c.10259+7G>A rs143752962 0.00875
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=) rs193922854 0.00873
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_000426.4(LAMA2):c.8548-10T>C rs113644365 0.00865
NM_001276345.2(TNNT2):c.68-8A>G rs115805892 0.00864
NM_001128178.3(NPHP1):c.772-17G>A rs146343637 0.00862
NM_001244008.2(KIF1A):c.4812C>A (p.Thr1604=) rs76974316 0.00862
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_000059.4(BRCA2):c.7806-40A>G rs9590939 0.00858
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=) rs140237315 0.00855
NM_004100.5(EYA4):c.1845C>T (p.Asn615=) rs142721902 0.00854
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala) rs34799090 0.00854
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541 0.00853
NM_001458.5(FLNC):c.2390-14C>T rs71581921 0.00843
NM_000552.5(VWF):c.2900G>A (p.Gly967Asp) rs141087261 0.00842
NM_001458.5(FLNC):c.6771A>G (p.Pro2257=) rs34422412 0.00842
NM_024334.3(TMEM43):c.222C>T (p.Pro74=) rs34099410 0.00841
NM_015338.6(ASXL1):c.3519G>A (p.Leu1173=) rs117901891 0.00839
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155 0.00831
NM_000186.4(CFH):c.2634C>T (p.His878=) rs35292876 0.00829
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) rs55861600 0.00828
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=) rs72646893 0.00826
NM_000051.4(ATM):c.8419-19A>G rs12279930 0.00824
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr) rs36210417 0.00822
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721 0.00820
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007 0.00808
NM_015978.3(TNNI3K):c.2057T>C (p.Ile686Thr) rs3737564 0.00806
NM_133379.5(TTN):c.14244T>C (p.Leu4748=) rs139669372 0.00806
NM_133497.4(KCNV2):c.849G>A (p.Glu283=) rs17656693 0.00801
NM_194248.3(OTOF):c.2025G>A (p.Glu675=) rs61746988 0.00801
NM_000141.5(FGFR2):c.109+10T>G rs3135722 0.00799
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=) rs56310931 0.00799
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=) rs2228439 0.00793
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
NM_001276345.2(TNNT2):c.474G>C (p.Arg158=) rs35914325 0.00788
NM_000257.4(MYH7):c.4520-25C>T rs45503601 0.00787
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu) rs56219475 0.00787
NM_002900.3(RBP3):c.1037G>A (p.Arg346His) rs111245635 0.00786
NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=) rs58668703 0.00784
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_170707.4(LMNA):c.438C>T (p.Ala146=) rs80356805 0.00782
NM_000141.5(FGFR2):c.294G>A (p.Thr98=) rs1047101 0.00776
NM_006005.3(WFS1):c.1308C>T (p.Thr436=) rs71539646 0.00773
NM_002693.3(POLG):c.3597C>A (p.Thr1199=) rs2307443 0.00770
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 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_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_182961.4(SYNE1):c.156T>C (p.Asp52=) rs139156106 0.00761
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) rs56177950 0.00760
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534 0.00759
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His) rs59887778 0.00758
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_000186.4(CFH):c.1159+19T>G rs35695425 0.00756
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375 0.00756
NM_181332.3(NLGN4X):c.1777C>T (p.Leu593Phe) rs3747333 0.00756
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=) rs201354526 0.00754
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974 0.00753
NM_014000.3(VCL):c.2950-22C>G rs71579378 0.00753
NM_001005361.3(DNM2):c.235+6A>G rs113192269 0.00748
NM_014391.3(ANKRD1):c.348G>A (p.Thr116=) rs137914723 0.00748
NM_015338.6(ASXL1):c.1954G>A (p.Gly652Ser) rs3746609 0.00747
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg) rs148398509 0.00737
NM_001009944.3(PKD1):c.9270C>T (p.Val3090=) rs149056734 0.00736
NM_032588.4(TRIM63):c.135G>C (p.Arg45=) rs61760891 0.00733
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) rs112469769 0.00730
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00729
NM_014476.6(PDLIM3):c.162C>T (p.Gly54=) rs112661328 0.00729
NM_000501.4(ELN):c.1622-13C>T rs41362346 0.00728
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys) rs146953558 0.00728
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met) rs77351975 0.00719
NM_198994.3(TGM6):c.42G>A (p.Ser14=) rs149394698 0.00719
NM_001267550.2(TTN):c.63026G>A (p.Arg21009Gln) rs72646851 0.00718
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys) rs141703710 0.00717
NM_006214.4(PHYH):c.678+15C>T rs140995522 0.00717
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_001848.3(COL6A1):c.1823-8G>A rs184666690 0.00711
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085 0.00705
NM_001267550.2(TTN):c.57462G>A (p.Gln19154=) rs72646832 0.00703
NM_001267550.2(TTN):c.57464G>A (p.Arg19155Lys) rs72646833 0.00702
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu) rs17452588 0.00701
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn) rs17354992 0.00698
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=) rs12474306 0.00697
NM_001267550.2(TTN):c.56529G>A (p.Thr18843=) rs72646827 0.00697
NM_001267550.2(TTN):c.32722+9G>A rs148231130 0.00695
NM_000540.3(RYR1):c.7281C>T (p.Ala2427=) rs77310009 0.00694
NM_001927.4(DES):c.735+20C>T rs151226355 0.00694
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093 0.00694
NM_181486.4(TBX5):c.982+16C>T rs28730762 0.00694
NM_000059.4(BRCA2):c.517-19C>T rs11571623 0.00693
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=) rs16866423 0.00691
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=) rs41266697 0.00686
NM_001126049.2(KLLN):c.-956G>T rs34149102 0.00683
NM_001267550.2(TTN):c.45083-10A>G rs72677222 0.00683
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422 0.00680
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884 0.00677
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_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_021625.5(TRPV4):c.2433G>C (p.Ser811=) rs34071623 0.00673
NM_000350.3(ABCA4):c.*10C>A rs145634012 0.00671
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=) rs72648258 0.00667
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) rs72648960 0.00666
NM_030787.4(CFHR5):c.429T>C (p.Thr143=) rs140215003 0.00665
NM_001369268.1(ACAN):c.1469C>T (p.Ser490Leu) rs117116488 0.00664
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_017636.4(TRPM4):c.301G>A (p.Ala101Thr) rs113984787 0.00662
NM_017636.4(TRPM4):c.306T>G (p.Val102=) rs111783027 0.00662
NM_170606.3(KMT2C):c.7491C>T (p.Arg2497=) rs117187677 0.00662
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro) rs4988111 0.00660
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00660
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492 0.00660
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=) rs144876996 0.00659
NM_000791.4(DHFR):c.-259C>T rs6151597 0.00658
NM_014000.3(VCL):c.2801C>T (p.Ala934Val) rs16931179 0.00658
NM_000064.4(C3):c.1976-19C>T rs11569433 0.00656
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585 0.00654
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_006073.4(TRDN):c.1538-13T>G rs55704802 0.00651
NM_138295.5(PKD1L1):c.2675+4C>T rs143005953 0.00651
NM_006514.4(SCN10A):c.3087+15C>T rs140924179 0.00650
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser) rs34135067 0.00646
NM_000426.4(LAMA2):c.1701C>T (p.Ile567=) rs111381107 0.00641
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00640
NM_017449.5(EPHB2):c.2625A>G (p.Gln875=) rs55993650 0.00638
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_198576.4(AGRN):c.3866C>T (p.Pro1289Leu) rs139294803 0.00637
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00636
NM_000455.5(STK11):c.369G>A (p.Gln123=) rs140112347 0.00636
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=) rs76771282 0.00636
NM_002055.5(GFAP):c.738G>A (p.Ala246=) rs147404772 0.00636
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly) rs146983095 0.00634
NM_015559.3(SETBP1):c.1491G>A (p.Pro497=) rs113053616 0.00634
NM_015046.7(SETX):c.7905C>T (p.Ala2635=) rs112201716 0.00633
NM_024334.3(TMEM43):c.953C>T (p.Ala318Val) rs11924644 0.00629
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=) rs11915053 0.00629
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=) rs146072491 0.00628
NM_001849.4(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828 0.00627
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00625
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile) rs142271930 0.00621
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_001267550.2(TTN):c.81558T>C (p.Asn27186=) rs56181243 0.00615
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00613
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe) rs34618570 0.00613
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys) rs12720445 0.00612
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_000540.3(RYR1):c.573C>T (p.Asp191=) rs892054 0.00607
NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu) rs116890187 0.00606
NM_020717.5(SHROOM4):c.3415dup (p.Glu1139fs) rs587780460 0.00605
NM_001289104.2(PRKCSH):c.351-5C>T rs76485217 0.00604
NM_000051.4(ATM):c.*29C>G rs3218711 0.00603
NM_001035.3(RYR2):c.14299-12A>G rs41267519 0.00603
NM_012233.3(RAB3GAP1):c.913A>G (p.Ile305Val) rs116775947 0.00602
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
NM_001267550.2(TTN):c.45350-13T>C rs113084617 0.00600
NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr) rs36083134 0.00599
NM_000498.3(CYP11B2):c.743T>C (p.Ile248Thr) rs4547 0.00598
NM_001018020.2(TPM1):c.*31G>A rs11558748 0.00598
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr) rs114026724 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_001267550.2(TTN):c.36126A>C (p.Glu12042Asp) rs113231696 0.00597
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065 0.00596
NM_001292034.3(TAB2):c.1128G>A (p.Thr376=) rs34220315 0.00594
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser) rs16866477 0.00593
NM_001349253.2(SCN11A):c.757C>T (p.Leu253=) rs36084747 0.00591
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=) rs115070904 0.00590
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653 0.00590
NM_014625.4(NPHS2):c.891G>A (p.Ala297=) rs5005771 0.00589
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser) rs76537615 0.00586
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu) rs116307796 0.00586
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759 0.00586
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala) rs56385601 0.00586
NM_000460.4(THPO):c.-259G>A rs41266279 0.00584
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338 0.00584
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00583
NM_005751.5(AKAP9):c.9092A>G (p.Gln3031Arg) rs61757673 0.00583
NM_172351.3(CD46):c.417A>G (p.Leu139=) rs12126088 0.00583
NM_021625.5(TRPV4):c.810G>A (p.Gly270=) rs147558344 0.00582
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=) rs114008185 0.00577
NM_017780.4(CHD7):c.5051-4C>T rs71640288 0.00577
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_130837.3(OPA1):c.420G>T (p.Val140=) rs35801538 0.00577
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=) rs45624133 0.00575
NM_014625.4(NPHS2):c.182C>T (p.Ala61Val) rs201050491 0.00575
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534 0.00573
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815 0.00573
NM_014908.4(DOLK):c.1dup (p.Met1fs) rs531969689 0.00573
NM_005619.5(RTN2):c.1143G>A (p.Ala381=) rs45532933 0.00572
NM_002880.4(RAF1):c.923C>T (p.Pro308Leu) rs5746220 0.00571
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu) rs33971253 0.00570
NM_002016.2(FLG):c.10262G>A (p.Ser3421Asn) rs139262132 0.00570
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135 0.00570
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975 0.00570
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_000051.4(ATM):c.186-7C>T rs55674039 0.00568
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_133379.5(TTN):c.13936A>G (p.Lys4646Glu) rs140909116 0.00562
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907 0.00561
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408 0.00559
NM_000432.4(MYL2):c.381G>A (p.Ala127=) rs2233261 0.00558
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met) rs35256065 0.00558
NM_001126108.2(SLC12A3):c.2857-6G>A rs117981500 0.00557
NM_138295.5(PKD1L1):c.5467G>A (p.Asp1823Asn) rs116988549 0.00557
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe) rs147122501 0.00554
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00553
NM_002230.4(JUP):c.1774-13C>T rs116772523 0.00553
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843 0.00552
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00550
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_006767.4(LZTR1):c.1209C>T (p.Phe403=) rs145833752 0.00550
NM_017882.3(CLN6):c.298-6C>T rs117038427 0.00549
NM_000257.4(MYH7):c.3853+21C>T rs45584435 0.00548
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=) rs72650003 0.00545
NM_000085.5(CLCNKB):c.1297+5G>T rs35351345 0.00544
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_001159699.2(FHL1):c.204+5C>T rs182106777 0.00542
NM_005585.5(SMAD6):c.711C>T (p.His237=) rs144415105 0.00542
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00539
NM_001308093.3(GATA4):c.912+25G>A rs147860174 0.00539
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00538
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_015338.6(ASXL1):c.3513G>A (p.Arg1171=) rs150391716 0.00538
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=) rs144384573 0.00538
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=) rs41313687 0.00537
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys) rs181067717 0.00536
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_001267550.2(TTN):c.39709+6C>T rs72650067 0.00533
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=) rs115623439 0.00531
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891 0.00530
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_001710.6(CFB):c.600C>T (p.Ser200=) rs113197809 0.00527
NM_000218.3(KCNQ1):c.720C>T (p.His240=) rs28730754 0.00524
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237 0.00519
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_173660.5(DOK7):c.1204C>T (p.Arg402Trp) rs149905649 0.00516
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890 0.00513
NM_000540.3(RYR1):c.10938-17A>G rs181147531 0.00513
NM_000722.4(CACNA2D1):c.659-17T>C rs201932919 0.00513
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_000335.5(SCN5A):c.3508+10C>T rs41258454 0.00510
NM_007294.4(BRCA1):c.-192T>C rs113323025 0.00510
NM_000092.5(COL4A4):c.2907A>C (p.Ser969=) rs116354015 0.00506
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_032578.4(MYPN):c.1134C>T (p.Ile378=) rs145701607 0.00504
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465 0.00502
NM_016233.2(PADI3):c.335T>A (p.Leu112His) rs142129409 0.00502
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_003476.5(CSRP3):c.213C>T (p.Ile71=) rs45476991 0.00499
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) rs56056823 0.00499
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) rs76081119 0.00498
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164 0.00498
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser) rs144922355 0.00496
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327 0.00496
NM_000051.4(ATM):c.6348-54T>C rs116924981 0.00493
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984 0.00493
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713 0.00491
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) rs56013867 0.00491
NM_000535.7(PMS2):c.2445+30A>G rs549704870 0.00490
NM_001369268.1(ACAN):c.1366T>C (p.Phe456Leu) rs181736584 0.00490
NM_002471.4(MYH6):c.330G>A (p.Ala110=) rs77679218 0.00490
NM_144670.6(A2ML1):c.3252C>T (p.His1084=) rs61745125 0.00490
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=) rs17849927 0.00488
NM_206933.4(USH2A):c.13440G>A (p.Arg4480=) rs111033378 0.00488
NM_017849.4(TMEM127):c.409+7C>T rs189327749 0.00487
NM_002691.4(POLD1):c.1275C>T (p.Ala425=) rs3219392 0.00486
NM_000142.5(FGFR3):c.663G>A (p.Ser221=) rs114421370 0.00485
NM_001009944.3(PKD1):c.4264G>A (p.Ala1422Thr) rs140980374 0.00485
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_001308093.3(GATA4):c.1150-20G>A rs114345849 0.00483
NM_001378454.1(ALMS1):c.11872+18G>A rs139647347 0.00482
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399 0.00482
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn) rs116567963 0.00481
NM_001365951.3(KIF1B):c.4158G>A (p.Ser1386=) rs116302604 0.00481
NM_002156.5(HSPD1):c.27C>G (p.Arg9=) rs11551349 0.00481
NM_001349253.2(SCN11A):c.4230G>A (p.Thr1410=) rs78953918 0.00480
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=) rs145806603 0.00479
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=) rs12721379 0.00478
NM_016599.5(MYOZ2):c.76+19C>T rs77591499 0.00476
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=) rs61742801 0.00476
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_000451.4(SHOX):c.63C>T (p.Gly21=) rs142306835 0.00472
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995 0.00472
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_000257.4(MYH7):c.1579-17C>T rs182949516 0.00470
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938 0.00470
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile) rs115800498 0.00470
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=) rs72646857 0.00468
NM_000257.4(MYH7):c.*20G>A rs45548631 0.00463
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_182914.3(SYNE2):c.7162G>A (p.Glu2388Lys) rs200842904 0.00462
NM_001035.3(RYR2):c.1863C>T (p.His621=) rs17686573 0.00461
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val) rs72650029 0.00461
NM_003000.3(SDHB):c.24C>T (p.Ser8=) rs148738139 0.00461
NM_001365536.1(SCN9A):c.2517+6C>T rs145316463 0.00460
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140 0.00457
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln) rs28363283 0.00457
NM_013275.6(ANKRD11):c.4872G>A (p.Ala1624=) rs143426579 0.00457
NM_170707.4(LMNA):c.357-3717A>G rs148559653 0.00457
NM_002471.4(MYH6):c.86G>A (p.Arg29Gln) rs150574114 0.00455
NM_130839.5(UBE3A):c.2124+9T>C rs79328837 0.00454
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) rs111033338 0.00452
NM_002471.4(MYH6):c.1989C>T (p.Asn663=) rs28730774 0.00451
NM_006514.4(SCN10A):c.4009T>A (p.Ser1337Thr) rs11711062 0.00451
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304 0.00450
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_002471.4(MYH6):c.2168+17C>A rs192337153 0.00443
NM_014000.3(VCL):c.1317T>C (p.Ser439=) rs71579355 0.00442
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_004281.4(BAG3):c.231G>A (p.Pro77=) rs143752613 0.00441
NM_032588.4(TRIM63):c.*2G>A rs77965623 0.00441
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882 0.00439
NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser) rs112906840 0.00438
NM_022114.4(PRDM16):c.1212G>A (p.Thr404=) rs139129844 0.00438
NM_022437.3(ABCG8):c.1506G>A (p.Pro502=) rs145756111 0.00437
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266 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_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949 0.00435
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_004656.4(BAP1):c.2057-4G>T rs149499021 0.00433
NM_001171.6(ABCC6):c.3980G>A (p.Gly1327Glu) rs57695665 0.00432
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_006514.4(SCN10A):c.4656G>A (p.Ala1552=) rs151182542 0.00431
NM_004168.4(SDHA):c.969C>T (p.Gly323=) rs142849100 0.00430
NM_006073.4(TRDN):c.1721-4A>G rs60743141 0.00430
NM_000179.3(MSH6):c.1345C>T (p.Leu449=) rs3136333 0.00429
NM_000051.4(ATM):c.5762+27G>A rs3218686 0.00428
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_004525.3(LRP2):c.9613A>G (p.Asn3205Asp) rs35734447 0.00426
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr) rs56815840 0.00424
NM_020433.5(JPH2):c.380-9C>G rs111987307 0.00423
NM_013266.4(CTNNA3):c.2553G>A (p.Lys851=) rs115814032 0.00420
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=) rs78795178 0.00417
NM_001375405.1(CEP120):c.2134C>T (p.Leu712Phe) rs114280473 0.00417
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala) rs147756847 0.00416
NM_002471.4(MYH6):c.622G>A (p.Asp208Asn) rs142027794 0.00415
NM_000249.4(MLH1):c.453+25A>G rs4647246 0.00414
NM_000426.4(LAMA2):c.3556-15T>G rs17741922 0.00414
NM_001458.5(FLNC):c.1902G>A (p.Glu634=) rs12536635 0.00414
NM_014630.3(ZNF592):c.3396C>T (p.Ala1132=) rs143259756 0.00414
NM_206933.4(USH2A):c.6270A>G (p.Leu2090=) rs56245532 0.00414
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_002471.4(MYH6):c.4651-12A>C rs193922653 0.00413
NM_000038.6(APC):c.933+30A>G rs145211300 0.00412
NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser) rs55816283 0.00412
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268 0.00408
NM_000335.5(SCN5A):c.717C>T (p.Ile239=) rs41285129 0.00407
NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys) rs2230232 0.00406
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766 0.00405
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_001458.5(FLNC):c.1549+15C>A rs181134489 0.00403
NM_001710.6(CFB):c.1408+7A>C rs4151656 0.00403
NM_004924.6(ACTN4):c.2401G>A (p.Val801Met) rs141727248 0.00403
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_030665.4(RAI1):c.1142C>T (p.Ala381Val) rs113208290 0.00400
NM_000249.4(MLH1):c.307-29C>A rs139620056 0.00398
NM_000251.3(MSH2):c.1662-9G>A rs17218356 0.00398
NM_001267550.2(TTN):c.15850G>A (p.Val5284Met) rs66839174 0.00398
NM_004360.5(CDH1):c.532-18C>T rs200673941 0.00398
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=) rs61751488 0.00398
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555 0.00397
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_004369.4(COL6A3):c.1231C>G (p.Leu411Val) rs113716915 0.00396
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513 0.00396
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=) rs35225609 0.00394
NM_020549.5(CHAT):c.1372C>T (p.Leu458Phe) rs76014951 0.00391
NM_000540.3(RYR1):c.6732G>A (p.Arg2244=) rs78915828 0.00390
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser) rs111966833 0.00389
NM_017636.4(TRPM4):c.870C>T (p.Asn290=) rs141997826 0.00389
NM_024334.3(TMEM43):c.162+21C>T rs137975239 0.00388
NM_182961.4(SYNE1):c.1983C>T (p.Asn661=) rs149670417 0.00388
NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro) rs28730751 0.00387
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185 0.00386
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) rs201531206 0.00386
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074 0.00385
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala) rs61749435 0.00385
NM_004168.4(SDHA):c.456+20G>C rs193283468 0.00385
NM_003227.4(TFR2):c.1127C>A (p.Ala376Asp) rs41303495 0.00384
NM_001349253.2(SCN11A):c.3132C>G (p.Asn1044Lys) rs35693485 0.00382
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
NM_001349253.2(SCN11A):c.1473+12C>T rs115646260 0.00378
NM_030787.4(CFHR5):c.254-5C>T rs185709089 0.00378
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272 0.00377
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=) rs61751540 0.00377
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_000722.4(CACNA2D1):c.3134A>C (p.Asp1045Ala) rs35131433 0.00374
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) rs148197254 0.00374
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230 0.00372
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116 0.00372
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NM_130797.4(DPP6):c.627+21101A>G rs117574002 0.00365
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325 0.00364
NM_004656.4(BAP1):c.1729+8T>C rs150945583 0.00364
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_000051.4(ATM):c.5497-15G>C rs3092828 0.00363
NM_001267550.2(TTN):c.34474C>A (p.Pro11492Thr) rs182428755 0.00362
NM_005257.6(GATA6):c.1602A>G (p.Thr534=) rs146949786 0.00362
NM_000335.5(SCN5A):c.4434+13C>T rs148598985 0.00361
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208 0.00361
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909 0.00359
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_201596.3(CACNB2):c.873G>A (p.Leu291=) rs138423466 0.00355
NM_000335.5(SCN5A):c.1017C>T (p.Tyr339=) rs17215493 0.00354
NM_000431.4(MVK):c.769-7T>G rs104895331 0.00354
NM_001243133.2(NLRP3):c.1389C>T (p.His463=) rs111400208 0.00354
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719 0.00354
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172 0.00354
NM_001101.5(ACTB):c.426G>T (p.Leu142=) rs79074016 0.00353
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val) rs41313697 0.00352
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met) rs61751302 0.00352
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237 0.00350
NM_000702.4(ATP1A2):c.2943-15C>T rs111510835 0.00350
NM_006939.4(SOS2):c.1344G>A (p.Leu448=) rs35530861 0.00350
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met) rs115784602 0.00349
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161 0.00349
NM_182925.5(FLT4):c.1921C>T (p.Pro641Ser) rs55667289 0.00349
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser) rs149073355 0.00347
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00346
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613 0.00346
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu) rs41308435 0.00346
NM_000330.4(RS1):c.184+3199G>A rs36022183 0.00345
NM_000091.5(COL4A3):c.4893C>T (p.Phe1631=) rs183218622 0.00344
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=) rs56151652 0.00343
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116 0.00343
NM_001849.4(COL6A2):c.510C>T (p.Cys170=) rs142328765 0.00343
NM_017617.5(NOTCH1):c.2207+10G>A rs191892426 0.00343
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972 0.00343
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_001018005.2(TPM1):c.*76A>G rs140658011 0.00339
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_005472.5(KCNE3):c.248G>A (p.Arg83His) rs17215437 0.00338
NM_001003800.2(BICD2):c.2445G>A (p.Pro815=) rs34451610 0.00337
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=) rs111033228 0.00336
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00335
NM_175875.5(SIX5):c.732G>A (p.Gln244=) rs141944211 0.00335
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=) rs118126378 0.00334
NM_000562.3(C8A):c.1331G>A (p.Arg444His) rs143908758 0.00334
NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=) rs116316039 0.00334
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219 0.00333
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr) rs72648923 0.00332
NM_004360.5(CDH1):c.833-16C>G rs33984587 0.00332
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_000142.5(FGFR3):c.1014C>T (p.Thr338=) rs4647928 0.00328
NM_012082.4(ZFPM2):c.2287G>A (p.Val763Ile) rs117908591 0.00328
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser) rs144692954 0.00327
NM_001365276.2(TNXB):c.3445+8A>G rs201624002 0.00326
NM_016239.4(MYO15A):c.1385G>A (p.Gly462Asp) rs145292219 0.00326
NM_001374353.1(GLI2):c.2037A>G (p.Ala679=) rs146059306 0.00325
NM_007129.5(ZIC2):c.213G>A (p.Pro71=) rs189469383 0.00325
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg) rs181769913 0.00324
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=) rs144679294 0.00321
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151 0.00318
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134 0.00318
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754 0.00317
NM_004281.4(BAG3):c.181-9T>A rs139232658 0.00317
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile) rs141624266 0.00316
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) rs111558968 0.00315
NM_000051.4(ATM):c.5918+72A>G rs3218694 0.00314
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 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_000539.3(RHO):c.360C>T (p.Gly120=) rs79765751 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_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val) rs111294536 0.00310
NM_004656.4(BAP1):c.1002A>G (p.Leu334=) rs28997577 0.00310
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_024675.4(PALB2):c.1419A>C (p.Pro473=) rs62625275 0.00309
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847 0.00308
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_001177316.2(SLC34A3):c.1512C>T (p.Phe504=) rs146854507 0.00306
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_005633.4(SOS1):c.2673+14T>C rs183998234 0.00304
NM_144773.4(PROKR2):c.151G>A (p.Ala51Thr) rs144994507 0.00303
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925 0.00301
NM_001710.6(CFB):c.1778+9G>A rs188688680 0.00301
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_000051.4(ATM):c.6007-44G>A rs185700860 0.00300
NM_019098.5(CNGB3):c.2420C>G (p.Ala807Gly) rs142846289 0.00300
NM_001848.3(COL6A1):c.2067-10T>C rs200727020 0.00299
NM_006767.4(LZTR1):c.2373C>T (p.His791=) rs148993324 0.00299
NM_025077.4(TOE1):c.-45G>A rs2275602 0.00299
NM_005751.5(AKAP9):c.7275G>A (p.Gln2425=) rs61757672 0.00298
NM_000505.3(F12):c.-57G>C rs41309132 0.00297
NM_001458.5(FLNC):c.1425C>T (p.Asn475=) rs143610360 0.00297
NM_001458.5(FLNC):c.2078A>C (p.Asp693Ala) rs34972246 0.00297
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_000142.5(FGFR3):c.1076-16G>A rs3135889 0.00296
NM_000441.2(SLC26A4):c.601-17C>T rs78330939 0.00296
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=) rs55921307 0.00295
NM_000238.4(KCNH2):c.3152+12C>A rs72549420 0.00293
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn) rs2219594 0.00292
NM_000142.5(FGFR3):c.393G>A (p.Ser131=) rs55662109 0.00292
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343 0.00292
NM_024422.6(DSC2):c.1264-5C>T rs183614856 0.00292
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00291
NM_001267550.2(TTN):c.69716-5C>G rs72646886 0.00290
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478 0.00288
NM_007078.3(LDB3):c.2016C>T (p.Cys672=) rs45578640 0.00288
NM_000094.4(COL7A1):c.3359G>A (p.Arg1120Lys) rs2228563 0.00287
NM_000142.5(FGFR3):c.2205C>G (p.Pro735=) rs145020302 0.00287
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898 0.00287
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln) rs72677233 0.00287
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His) rs75031300 0.00287
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00286
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439 0.00286
NM_001458.5(FLNC):c.4928-7T>C rs201957008 0.00286
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser) rs35623035 0.00285
NM_001386795.1(DTNA):c.243A>G (p.Leu81=) rs146923532 0.00285
NM_000335.5(SCN5A):c.2436+12G>A rs41312419 0.00284
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546 0.00283
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
NM_001148.6(ANK2):c.10395G>A (p.Glu3465=) rs147423696 0.00282
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His) rs181104321 0.00282
NM_030662.4(MAP2K2):c.846C>T (p.Pro282=) rs11539506 0.00282
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) rs2229073 0.00281
NM_001145026.2(PTPRQ):c.5196A>C (p.Pro1732=) rs187900644 0.00280
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048 0.00279
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=) rs35504014 0.00278
NM_000257.4(MYH7):c.4788G>A (p.Ser1596=) rs146858930 0.00277
NM_000258.3(MYL3):c.129+54_129+55del rs544241793 0.00277
NM_000821.7(GGCX):c.189C>T (p.Ser63=) rs41290035 0.00277
NM_012330.4(KAT6B):c.4835G>A (p.Arg1612His) rs72803461 0.00277
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_001308093.3(GATA4):c.825C>T (p.Cys275=) rs55980825 0.00275
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054 0.00275
NM_000059.4(BRCA2):c.67+62T>G rs11571574 0.00274
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437 0.00274
NM_000257.4(MYH7):c.4353+10G>A rs202205780 0.00274
NM_001145252.3(CFP):c.157G>A (p.Val53Met) rs8177068 0.00274
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155 0.00274
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994 0.00274
NM_017636.4(TRPM4):c.1368C>G (p.Thr456=) rs56118173 0.00274
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=) rs17850194 0.00273
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_000540.3(RYR1):c.8376G>A (p.Arg2792=) rs150388417 0.00272
NM_000186.4(CFH):c.428-14T>C rs184188486 0.00271
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) rs45550635 0.00271
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser) rs140824939 0.00270
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_001148.6(ANK2):c.1401A>G (p.Ala467=) rs142159132 0.00269
NM_001308210.2(TSHZ1):c.1843G>A (p.Ala615Thr) rs149729975 0.00269
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu) rs114435632 0.00269
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_000216.4(ANOS1):c.1759G>T (p.Val587Leu) rs137900287 0.00268
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_000218.3(KCNQ1):c.-5T>C rs532941548 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_006514.4(SCN10A):c.4416C>T (p.Ile1472=) rs144944369 0.00267
NM_001148.6(ANK2):c.3543C>T (p.Ala1181=) rs76685232 0.00265
NM_001242823.2(C4B_2):c.3218= (p.Gly1073=) rs147162052 0.00265
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943 0.00264
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811 0.00264
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949 0.00262
NM_001369268.1(ACAN):c.7524C>T (p.Ser2508=) rs190361551 0.00262
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala) rs201763096 0.00262
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240 0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_004168.4(SDHA):c.1413C>T (p.Ile471=) rs34779890 0.00259
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409 0.00259
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890 0.00258
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689 0.00258
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln) rs140756827 0.00258
NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr) rs72648913 0.00258
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn) rs115013641 0.00257
NM_012464.5(TLL1):c.811+6A>G rs143316816 0.00257
NM_001148.6(ANK2):c.3366C>T (p.Asn1122=) rs114896457 0.00256
NM_014000.3(VCL):c.2025G>A (p.Val675=) rs140766884 0.00256
NM_144670.6(A2ML1):c.1050T>C (p.Phe350=) rs201247776 0.00256
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_004360.5(CDH1):c.324A>G (p.Arg108=) rs116542018 0.00255
NM_198253.3(TERT):c.1812A>G (p.Ala604=) rs33959226 0.00255
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=) rs138498780 0.00254
NM_006080.3(SEMA3A):c.458A>G (p.Asn153Ser) rs139295139 0.00254
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_001283009.2(RTEL1):c.3823-5C>G rs141522376 0.00252
NM_001848.3(COL6A1):c.2130G>A (p.Thr710=) rs147219060 0.00252
NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr) rs187194973 0.00252
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro) rs76177450 0.00250
NM_020247.5(COQ8A):c.384C>T (p.Ala128=) rs139970507 0.00250
NM_030787.4(CFHR5):c.732C>T (p.Asn244=) rs41306229 0.00250
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_206933.4(USH2A):c.11404G>A (p.Glu3802Lys) rs147900972 0.00249
NM_006514.4(SCN10A):c.3229-20C>T rs73825880 0.00248
NM_020297.4(ABCC9):c.407-14C>A rs201279882 0.00248
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn)