ClinVar Miner

Variants from Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC): Collection method of the submission from Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC):
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
1 1451 36 3379 916 17 67 3950

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
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response established risk allele pathogenic, low penetrance protective risk factor other
pathogenic 0 55 12 0 2 0 0 0 0 1 1 2 1
likely pathogenic 52 0 11 0 0 0 1 0 0 0 0 0 0
uncertain significance 12 14 1 175 36 0 0 1 1 0 0 2 0
likely benign 6 15 694 11 2966 1 2 0 0 0 1 3 2
benign 1 1 35 306 24 0 0 0 0 0 0 2 0

Submitter to submitter summary #

Total submitters: 131
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 1443 0 1869 162 2 16 2048
PreventionGenetics, part of Exact Sciences 0 1144 0 1048 75 1 2 1126
Eurofins Ntd Llc (ga) 0 585 0 787 209 3 6 1002
Invitae 0 468 0 817 115 2 13 946
Clinical Genetics, Academic Medical Center 0 531 0 886 0 0 0 886
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 2183 0 774 0 0 0 774
CeGaT Center for Human Genetics Tuebingen 0 1156 0 581 126 0 5 712
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 485 0 636 34 1 2 673
Athena Diagnostics Inc 0 186 0 635 35 0 3 672
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 766 0 650 0 0 0 650
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 307 0 496 71 0 3 570
Genetic Services Laboratory, University of Chicago 0 579 0 459 101 0 0 560
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 910 0 556 0 0 0 556
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 438 0 448 57 0 2 507
Ambry Genetics 0 287 0 306 68 0 2 375
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 410 0 292 0 0 0 292
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 764 0 203 0 0 0 203
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 83 34 135 27 0 0 196
Quest Diagnostics Nichols Institute San Juan Capistrano 0 137 0 126 15 0 3 143
Mayo Clinic Laboratories, Mayo Clinic 0 169 0 86 54 0 3 142
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 292 0 106 24 0 2 132
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 291 0 112 19 0 0 131
Illumina Laboratory Services, Illumina 0 165 0 75 52 0 3 128
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 139 0 89 4 0 0 93
Department of Pathology and Laboratory Medicine, Sinai Health System 0 104 0 40 31 0 5 76
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 18 0 61 12 0 0 73
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 181 0 73 0 0 0 73
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 75 0 20 34 0 1 55
Revvity Omics, Revvity 0 123 0 7 32 0 4 43
Fulgent Genetics, Fulgent Genetics 0 50 0 23 3 0 0 26
Color Diagnostics, LLC DBA Color Health 0 18 0 25 1 0 0 26
OMIM 0 9 0 3 3 10 4 20
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 17 0 16 2 0 0 18
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 3 0 3 4 0 11 18
Mendelics 0 6 0 8 5 0 0 13
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 7 0 1 12 0 0 13
Leiden Open Variation Database 0 13 0 6 5 0 1 12
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 8 0 11 1 0 0 12
All of Us Research Program, National Institutes of Health 0 7 0 11 0 0 0 11
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 5 0 10 0 0 0 10
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 0 25 0 10 0 0 0 10
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 10 0 6 2 0 1 9
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 41 0 8 0 0 1 9
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 13 0 0 6 0 1 7
CSER _CC_NCGL, University of Washington 0 9 0 2 5 0 0 7
Clinical Genetics and Genomics, Karolinska University Hospital 0 25 0 5 0 0 2 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 12 0 4 1 0 2 7
Blueprint Genetics 0 25 0 4 2 0 0 6
Gharavi Laboratory, Columbia University 0 8 0 2 3 0 1 6
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 4 0 6 0 0 0 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 12 0 4 1 0 1 5
Department of Pathology and Molecular Medicine, Queen's University 0 4 0 5 0 0 0 5
AiLife Diagnostics, AiLife Diagnostics 0 16 0 2 0 0 3 5
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 2 0 5 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 3 1 0 1 4
Institute of Human Genetics, University Hospital Muenster 0 3 0 2 2 0 0 4
Genome-Nilou Lab 0 2 0 4 0 0 0 4
Eye Genetics Research Group, Children's Medical Research Institute 0 0 0 1 2 0 0 3
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 0 0 0 1 0 2 3
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 1 0 0 2 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 0 1 0 3 3
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 0 9 0 2 1 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 1 1 0 1 3
University of Washington Department of Laboratory Medicine, University of Washington 0 2 0 2 0 1 0 3
Baylor Genetics 0 3 0 0 0 0 2 2
King Laboratory, University of Washington 0 0 0 1 1 0 0 2
Institute of Human Genetics, Cologne University 0 0 0 0 2 0 0 2
Natera, Inc. 0 5 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 1 0 0 1 2
Center for Genetic Medicine Research, Children's National Medical Center 0 0 0 0 2 0 0 2
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 2 0 0 0 0 2
GeneKor MSA 0 12 0 2 0 0 0 2
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 0 2 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 5 0 0 1 0 1 2
Santos-Cortez Lab, University of Colorado School of Medicine 0 0 0 0 2 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 3 0 2 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 0 0 0 1 0 1 2
Claritas Genomics 0 3 0 1 0 0 0 1
Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 0 0 0 0 0 0 1 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 0 1 0 0 0 1
RettBASE 0 1 0 1 0 0 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 1 0 0 0 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 0 0 0 0 1 0 0 1
Foundation Medicine, Inc. 0 0 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 2 0 0 1 0 0 1
Albrecht-Kossel-Institute, Medical University Rostock 0 0 0 0 0 1 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 0 0 0 0 0 1 1
National Institute on Deafness and Communication Disorders, National Institutes of Health 0 1 0 0 1 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 0 0 1 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 0 0 1 0 0 1
Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 0 0 0 1 1
Daryl Scott Lab, Baylor College of Medicine 0 0 0 0 0 0 1 1
Neurogenetics Laboratory - MEYER, AOU Meyer 0 1 0 0 0 0 1 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1 1
Undiagnosed Diseases Network, NIH 0 1 0 0 1 0 1 1
Endocrine oncology group, Uppsala University 0 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 0 0 1 0 1 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 0 1 1 0 1 1
Institute of Cellular and Molecular Medicine, Copenhagen University 0 0 0 0 0 0 1 1
Flegel Lab, National Institutes of Health 0 0 0 0 0 0 1 1
Genetics Department, University Hospital of Toulouse 0 0 0 0 0 0 1 1
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 0 0 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 1 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 1 0 0 0 1
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux 0 0 0 0 1 0 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 0 0 1 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 0 0 0 1 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 1 0 0 1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics 0 0 0 0 0 0 1 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 0 1 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 0 0 0 0 1 1
CZECANCA consortium 0 6 0 1 0 0 0 1
Rare Disease Group, University of Exeter 0 0 0 0 0 0 1 1
Central Laboratory, The First Hospital of Lanzhou University 0 0 0 0 0 0 1 1
New York Genome Center 0 2 0 0 1 0 1 1
MAGI's Lab - Research, MAGI Group 0 0 0 1 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 0 0 0 0 0 1 1
Genomic Medicine, Universita Cattolica del Sacro Cuore 0 0 0 0 0 0 1 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 1 0 0 0 1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 0 0 0 1 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 1 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 1 0 0 0 1
Ulrich Schweizer laboratory, Universitaetsklinikum Bonn 0 0 0 0 1 0 0 1
IU Genetic Testing Laboratories, Indiana University School of Medicine 0 0 0 0 0 0 1 1
Cytogenetics, Genetics Associates, Inc. 0 0 0 0 0 0 1 1
Chao Lab, Baylor College of Medicine, Texas Children's Hospital 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 3950
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.8798-19A>C rs1326605 0.73187
NM_003244.4(TGIF1):c.16+1720del rs11571510 0.36186
NM_030665.4(RAI1):c.840del (p.Gln280fs) rs34083643 0.35741
NM_001164508.2(NEB):c.13353C>T (p.Ala4451=) rs774726264 0.33333
NM_018670.4(MESP1):c.158dup (p.Ser54fs) rs759335947 0.26682
NM_017950.4(CCDC40):c.2832+313A>G rs7210679 0.25232
NM_001267550.2(TTN):c.8902+14del rs573000455 0.16798
NM_001267550.2(TTN):c.8902+16del rs570467105 0.16737
NM_080473.5(GATA5):c.199A>C (p.Thr67Pro) rs6142775 0.15464
NM_201384.3(PLEC):c.3757-9A>G rs57461687 0.14687
NM_000435.3(NOTCH3):c.5526T>C (p.Ala1842=) rs16980398 0.12317
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552 0.11428
NM_001164508.2(NEB):c.11077-4G>T rs878924060 0.11336
NM_016495.6(TBC1D7):c.517T>C (p.Leu173=) rs482227 0.11098
NM_003859.3(DPM1):c.679-7A>T rs60224379 0.11090
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976 0.10508
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_002016.2(FLG):c.6190A>C (p.Lys2064Gln) rs74129455 0.10140
NM_000512.5(GALNS):c.199C>A (p.Leu67Met) rs11862754 0.10099
NM_000142.5(FGFR3):c.445+3A>G rs3135868 0.09950
NM_001367721.1(CASK):c.1034-6C>T rs73470569 0.09241
NM_201384.3(PLEC):c.12561C>T (p.Asp4187=) rs11998271 0.08588
NM_001277115.2(DNAH11):c.11272T>C (p.Ser3758Pro) rs17145720 0.08574
NM_004985.5(KRAS):c.451-9G>A rs12313763 0.08467
NM_000516.7(GNAS):c.555C>T (p.Ile185=) rs8620 0.08427
NM_000435.3(NOTCH3):c.3547G>A (p.Val1183Met) rs10408676 0.08167
NM_030653.4(DDX11):c.1415-7T>C rs61917225 0.08122
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254 0.07931
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp) rs61749698 0.07665
NM_201384.3(PLEC):c.8820C>G (p.Asp2940Glu) rs58308209 0.07595
NM_003865.3(HESX1):c.374A>G (p.Asn125Ser) rs9878928 0.07568
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu) rs36117715 0.07538
NM_014208.3(DSPP):c.3699A>C (p.Glu1233Asp) rs112275895 0.07276
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser) rs34544747 0.07202
NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe) rs17110944 0.07088
NM_001375883.1(GPR161):c.-45+481A>T rs73030230 0.06974
NM_001368067.1(LDB3):c.504T>C (p.Asp168=) rs76615432 0.06909
NM_001458.5(FLNC):c.3624G>A (p.Ala1208=) rs35281128 0.06868
NM_007078.3(LDB3):c.690-4842G>A rs113445294 0.06823
NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile) rs3737821 0.06797
NM_021939.4(FKBP10):c.590A>G (p.Lys197Arg) rs34764749 0.06739
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_001291867.2(NHS):c.1714C>T (p.Pro572Ser) rs150688899 0.06491
NM_001369268.1(ACAN):c.1221C>T (p.Val407=) rs16942341 0.06383
NM_138477.4(CDAN1):c.3450+11C>T rs56046122 0.06311
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_001379081.2(FREM1):c.3819T>A (p.Asp1273Glu) rs7025814 0.06135
NM_001927.4(DES):c.578+11G>A rs111548596 0.06130
NM_000516.7(GNAS):c.1113C>T (p.Asn371=) rs8386 0.06127
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801 0.06070
NM_201384.3(PLEC):c.8319C>T (p.Ala2773=) rs34534853 0.05909
NM_201384.3(PLEC):c.265-16C>G rs11993492 0.05821
NM_203447.4(DOCK8):c.3230G>A (p.Ser1077Asn) rs34627722 0.05757
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln) rs11896521 0.05751
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala) rs16866378 0.05725
NM_001142864.4(PIEZO1):c.2991+12A>G rs112680298 0.05710
NM_003383.5(VLDLR):c.175G>A (p.Val59Ile) rs6149 0.05632
NM_032545.4(CFC1):c.140G>A (p.Arg47Gln) rs201431919 0.05582
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05381
NM_201525.4(ADGRG1):c.1286+6G>A rs74326170 0.05376
NM_001257180.2(SLC20A2):c.910G>A (p.Gly304Ser) rs73675069 0.05347
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519 0.05277
NM_003036.4(SKI):c.185C>G (p.Ala62Gly) rs28384811 0.05253
NM_006031.6(PCNT):c.711T>G (p.His237Gln) rs34500739 0.05250
NM_005677.4(COLQ):c.934A>G (p.Ser312Gly) rs6782980 0.05224
NM_014862.4(ARNT2):c.1815C>G (p.Thr605=) rs79914316 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_058246.4(DNAJB6):c.176-20A>G rs28377945 0.05106
NM_001082971.2(DDC):c.1385G>A (p.Arg462Gln) rs11575542 0.05076
NM_006031.6(PCNT):c.5858G>A (p.Arg1953His) rs34268261 0.05068
NM_002016.2(FLG):c.2857G>C (p.Glu953Gln) rs201137357 0.05019
NM_006031.6(PCNT):c.8258G>A (p.Arg2753His) rs743346 0.04982
NM_001853.4(COL9A3):c.280C>T (p.Pro94Ser) rs35908728 0.04973
NM_016592.5(GNAS):c.294C>T (p.Pro98=) rs1800902 0.04961
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly) rs35219601 0.04960
NM_001384732.1(CPLANE1):c.6427A>G (p.Ile2143Val) rs6884652 0.04935
NM_001369268.1(ACAN):c.306C>A (p.Asp102Glu) rs16942318 0.04874
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys) rs1805007 0.04832
NM_000257.4(MYH7):c.2923-18G>A rs7157087 0.04825
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_015346.4(ZFYVE26):c.3308C>T (p.Pro1103Leu) rs3742885 0.04730
NM_014208.3(DSPP):c.3681C>A (p.Asp1227Glu) rs959216315 0.04723
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_032638.5(GATA2):c.564G>C (p.Thr188=) rs34870876 0.04681
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405 0.04656
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185 0.04642
NM_005027.4(PIK3R2):c.2127C>T (p.Thr709=) rs112813367 0.04637
NM_001854.4(COL11A1):c.2043+8G>A rs2622875 0.04635
NM_000070.3(CAPN3):c.2380+12del rs28364538 0.04623
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405 0.04608
NM_173660.5(DOK7):c.753G>A (p.Ala251=) rs59932476 0.04559
NM_000302.4(PLOD1):c.2124T>C (p.His708=) rs879690 0.04545
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe) rs16841081 0.04499
NM_006031.6(PCNT):c.54+6C>T rs80017051 0.04471
NM_004113.6(FGF12):c.229-7C>T rs79608878 0.04458
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315 0.04402
NM_001851.6(COL9A1):c.2299A>G (p.Met767Val) rs6910140 0.04394
NM_015102.5(NPHP4):c.86C>T (p.Thr29Met) rs12142270 0.04382
NM_032977.4(CASP10):c.1228G>A (p.Val410Ile) rs13010627 0.04350
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418 0.04349
NM_001164508.2(NEB):c.20467-4T>A rs199791504 0.04348
NM_002775.5(HTRA1):c.778-20G>A rs74159166 0.04347
NM_001130987.2(DYSF):c.3575-17C>T rs13421969 0.04340
NM_032122.5(DTNBP1):c.814C>T (p.Pro272Ser) rs17470454 0.04338
NM_005677.4(COLQ):c.366+7A>G rs750387 0.04329
NM_006031.6(PCNT):c.7130C>T (p.Pro2377Leu) rs61735814 0.04295
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_153704.6(TMEM67):c.406+1361C>T rs73324992 0.04251
NM_001009944.3(PKD1):c.10225G>C (p.Val3409Leu) rs61747420 0.04243
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile) rs41309927 0.04225
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=) rs35959206 0.04188
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val) rs77469944 0.04185
NM_001009944.3(PKD1):c.5827G>A (p.Val1943Ile) rs137978188 0.04174
NM_002775.5(HTRA1):c.753C>T (p.Ile251=) rs17624021 0.04155
NM_020247.5(COQ8A):c.255T>G (p.His85Gln) rs2297411 0.04148
NM_033343.4(LHX4):c.450C>T (p.Asn150=) rs16855642 0.04109
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=) rs2272727 0.04082
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998 0.04075
NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu) rs16866380 0.04073
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn) rs3813243 0.04071
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile) rs61732502 0.04059
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893 0.04049
NM_033629.6(TREX1):c.912G>A (p.Leu304=) rs3135945 0.04049
NM_000081.4(LYST):c.3989A>C (p.Asp1330Ala) rs74641549 0.04030
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) rs112723255 0.04015
NM_018965.4(TREM2):c.632T>C (p.Leu211Pro) rs2234256 0.04010
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129 0.04009
NM_001267550.2(TTN):c.49731T>C (p.His16577=) rs2115558 0.03943
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp) rs61732504 0.03941
NM_001009944.3(PKD1):c.1023C>T (p.Ala341=) rs11643513 0.03937
NM_000381.4(MID1):c.661-6G>T rs868267567 0.03935
NM_015311.3(OBSL1):c.1102C>T (p.Arg368Cys) rs35009641 0.03933
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val) rs3731752 0.03923
NM_001042413.2(GLIS3):c.2686C>T (p.Leu896Phe) rs76094493 0.03919
NM_006031.6(PCNT):c.520A>G (p.Ile174Val) rs61735822 0.03881
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_003737.4(DCHS1):c.6991G>A (p.Val2331Ile) rs7924553 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_001165963.4(SCN1A):c.2176+17A>G rs59251406 0.03846
NM_001611.5(ACP5):c.661G>A (p.Val221Ile) rs2229532 0.03835
NM_201384.3(PLEC):c.11089C>T (p.Leu3697=) rs17062686 0.03808
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_001134888.3(RTL1):c.3323G>A (p.Arg1108Gln) rs117476938 0.03770
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu) rs7761870 0.03770
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=) rs17667728 0.03744
NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile) rs2278196 0.03742
NM_001127222.2(CACNA1A):c.1782-20C>T rs73513425 0.03727
NM_201384.3(PLEC):c.718+10C>T rs12545876 0.03717
NM_018112.3(TMEM38B):c.761G>C (p.Cys254Ser) rs35232724 0.03714
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln) rs56181447 0.03706
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val) rs16866412 0.03700
NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val) rs34540355 0.03694
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_001142864.4(PIEZO1):c.1013C>A (p.Ser338Tyr) rs112081600 0.03693
NM_001127222.2(CACNA1A):c.1626G>A (p.Thr542=) rs16011 0.03687
NM_003919.3(SGCE):c.1253+812G>A rs559235992 0.03668
NM_080425.4(GNAS):c.627G>A (p.Lys209=) rs74934823 0.03663
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_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592 0.03631
NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=) rs17846714 0.03612
NM_001122955.4(BSCL2):c.60C>G (p.Asp20Glu) rs115116507 0.03600
NM_001849.4(COL6A2):c.714+9C>T rs78822624 0.03565
NM_019066.5(MAGEL2):c.3151C>A (p.Leu1051Ile) rs2233070 0.03565
NM_001267550.2(TTN):c.48996G>A (p.Glu16332=) rs72677244 0.03561
NM_001846.4(COL4A2):c.549+15G>C rs74124318 0.03560
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val) rs72646881 0.03550
NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser) rs16995209 0.03548
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_006031.6(PCNT):c.3580G>A (p.Ala1194Thr) rs35044802 0.03488
NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly) rs12406479 0.03481
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser) rs3742030 0.03470
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val) rs16866531 0.03468
NM_001711.6(BGN):c.564C>T (p.Ile188=) rs2070933 0.03463
NM_000168.6(GLI3):c.4609C>T (p.Arg1537Cys) rs35364414 0.03460
NM_000168.6(GLI3):c.4007G>A (p.Gly1336Glu) rs35280470 0.03456
NM_001009944.3(PKD1):c.8913T>C (p.Ala2971=) rs9926309 0.03447
NM_001130987.2(DYSF):c.460+17G>C rs115170960 0.03446
NM_181741.4(ORC4):c.166C>G (p.Leu56Val) rs2307397 0.03439
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_001287.6(CLCN7):c.900G>A (p.Ala300=) rs41286695 0.03405
NM_006031.6(PCNT):c.6571T>C (p.Ser2191Pro) rs34151633 0.03401
NM_001851.6(COL9A1):c.1066-3T>C rs16868869 0.03394
NM_001164508.2(NEB):c.16284+11A>G rs367881797 0.03368
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_000702.4(ATP1A2):c.1652-11C>G rs17846713 0.03344
NM_021999.5(ITM2B):c.81C>T (p.Leu27=) rs11556899 0.03334
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_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671 0.03303
NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln) rs2066518 0.03294
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373 0.03282
NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu) rs4986939 0.03269
NM_000540.3(RYR1):c.12094+11A>G rs73933018 0.03267
NM_001171.6(ABCC6):c.346-6G>A rs55778939 0.03265
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_001130987.2(DYSF):c.666T>C (p.Pro222=) rs35392229 0.03244
NM_001379500.1(COL18A1):c.2340G>C (p.Gln780His) rs2230693 0.03222
NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=) rs35594075 0.03203
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_001235.5(SERPINH1):c.955-6C>A rs7105575 0.03189
NM_001009944.3(PKD1):c.8948+17A>G rs9928442 0.03177
NM_000435.3(NOTCH3):c.6438G>A (p.Ala2146=) rs1044008 0.03162
NM_001288705.3(CSF1R):c.2535C>G (p.Leu845=) rs56327604 0.03157
NM_012330.4(KAT6B):c.4495G>A (p.Val1499Ile) rs3740321 0.03151
NM_001378778.1(MPDZ):c.5723G>A (p.Arg1908Lys) rs34605667 0.03134
NM_001009944.3(PKD1):c.1714C>T (p.Pro572Ser) rs149022148 0.03132
NM_000142.5(FGFR3):c.588C>T (p.Arg196=) rs2305180 0.03125
NM_182914.3(SYNE2):c.10567A>C (p.Lys3523Gln) rs35203186 0.03124
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser) rs398124605 0.03116
NM_000540.3(RYR1):c.2871-5C>T rs45585535 0.03110
NM_006904.7(PRKDC):c.999G>A (p.Met333Ile) rs8178017 0.03099
NM_001846.4(COL4A2):c.4195G>A (p.Val1399Ile) rs45520539 0.03076
NM_012213.3(MLYCD):c.31A>G (p.Arg11Gly) rs138107830 0.03048
NM_001082971.2(DDC):c.649A>G (p.Met217Val) rs6263 0.03032
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03031
NM_001130987.2(DYSF):c.1577-1635C>G rs76402294 0.03029
NM_000489.6(ATRX):c.228G>A (p.Ser76=) rs5959371 0.03016
NM_001142864.4(PIEZO1):c.3456-11C>T rs77276858 0.03009
NM_001164508.2(NEB):c.19102-6C>T rs145127681 0.03008
NM_001848.3(COL6A1):c.2435-19C>T rs115181427 0.03003
NM_001846.4(COL4A2):c.594C>T (p.Pro198=) rs74124319 0.02997
NM_001458.5(FLNC):c.1614C>T (p.Tyr538=) rs76046880 0.02993
NM_006129.5(BMP1):c.1766-5C>T rs76809016 0.02982
NM_000540.3(RYR1):c.4107C>T (p.Pro1369=) rs11882640 0.02972
NM_005573.4(LMNB1):c.432G>A (p.Ser144=) rs34224885 0.02972
NM_030957.4(ADAMTS10):c.185G>A (p.Arg62Gln) rs62621197 0.02952
NM_182914.3(SYNE2):c.9078A>T (p.Glu3026Asp) rs34843668 0.02941
NM_182914.3(SYNE2):c.7690A>G (p.Ile2564Val) rs11628107 0.02936
NM_001101426.4(CRPPA):c.726A>G (p.Gln242=) rs61746966 0.02927
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_002661.5(PLCG2):c.2054+7G>A rs138158454 0.02918
NM_001283009.2(RTEL1):c.978G>A (p.Glu326=) rs41310197 0.02889
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720 0.02889
NM_000081.4(LYST):c.7137A>C (p.Leu2379=) rs61738992 0.02884
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_005921.2(MAP3K1):c.2816C>G (p.Ser939Cys) rs45556841 0.02871
NM_001848.3(COL6A1):c.2781C>T (p.Tyr927=) rs61735853 0.02858
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_015102.5(NPHP4):c.1631C>G (p.Ala544Gly) rs12093500 0.02840
NM_001377.3(DYNC2H1):c.9353+7G>A rs78309870 0.02821
NM_001164508.2(NEB):c.4407G>C (p.Glu1469Asp) rs34800215 0.02813
NM_001458.5(FLNC):c.2390-13C>T rs78086167 0.02800
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_020451.3(SELENON):c.981C>T (p.Arg327=) rs147587542 0.02788
NM_001458.5(FLNC):c.5669-12C>T rs79790270 0.02786
NM_001267550.2(TTN):c.36299A>T (p.Glu12100Val) rs73973133 0.02781
NM_001018115.3(FANCD2):c.2124T>C (p.Phe708=) rs9809716 0.02768
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp) rs1800273 0.02767
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_000435.3(NOTCH3):c.6221C>T (p.Pro2074Leu) rs114447350 0.02709
NM_052854.4(CREB3L1):c.1547T>G (p.Ile516Ser) rs73464035 0.02699
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_003240.5(LEFTY2):c.857C>T (p.Pro286Leu) rs2295418 0.02669
NM_001018115.3(FANCD2):c.64+12G>C rs9833228 0.02661
NM_213599.3(ANO5):c.2521-13A>G rs76850415 0.02660
NM_001846.4(COL4A2):c.315+19T>C rs74967960 0.02658
NM_001283009.2(RTEL1):c.2785G>A (p.Ala929Thr) rs61736615 0.02652
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala) rs17081389 0.02639
NM_000080.4(CHRNE):c.53G>T (p.Gly18Val) rs4790235 0.02635
NM_182961.4(SYNE1):c.16277C>T (p.Thr5426Met) rs2306914 0.02635
NM_001288705.3(CSF1R):c.733G>T (p.Ala245Ser) rs41338945 0.02627
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr) rs34878020 0.02621
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915 0.02614
NM_001267550.2(TTN):c.8116+19G>A rs13011633 0.02607
NM_001372044.2(SHANK3):c.1803-8C>T rs112659165 0.02605
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_002609.4(PDGFRB):c.1391C>T (p.Thr464Met) rs74943037 0.02595
NM_001164508.2(NEB):c.19732-6C>T rs11894996 0.02589
NM_001372044.2(SHANK3):c.2386G>A (p.Ala796Thr) rs61729471 0.02583
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu) rs73996414 0.02579
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818 0.02573
NM_004006.3(DMD):c.2623-11C>G rs1028360 0.02567
NM_001807.6(CEL):c.1454T>C (p.Ile485Thr) rs77696629 0.02562
NM_021625.5(TRPV4):c.81T>C (p.Gly27=) rs34599967 0.02557
NM_030957.4(ADAMTS10):c.1588-7C>G rs11882422 0.02550
NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=) rs61749020 0.02545
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) rs45516100 0.02529
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02522
NM_003482.4(KMT2D):c.15978T>G (p.Leu5326=) rs55776396 0.02513
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_000310.4(PPT1):c.837G>C (p.Gln279His) rs72937434 0.02506
NM_006790.3(MYOT):c.149A>G (p.Gln50Arg) rs34717730 0.02506
NM_001171.6(ABCC6):c.2224A>G (p.Ile742Val) rs59593133 0.02501
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=) rs34836829 0.02488
NM_003193.5(TBCE):c.614T>C (p.Val205Ala) rs16832611 0.02475
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315 0.02463
NM_003482.4(KMT2D):c.12028T>C (p.Ser4010Pro) rs80132640 0.02449
NM_003193.5(TBCE):c.1226A>G (p.Glu409Gly) rs16832619 0.02446
NM_000290.4(PGAM2):c.341T>G (p.Ile114Ser) rs61756062 0.02444
NM_001130987.2(DYSF):c.4222-20G>A rs111935215 0.02442
NM_006846.4(SPINK5):c.2915A>G (p.His972Arg) rs17705005 0.02442
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768 0.02431
NM_000069.3(CACNA1S):c.2063+7G>T rs79984703 0.02430
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=) rs28763943 0.02427
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_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) rs17078601 0.02418
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360 0.02397
NM_148919.4(PSMB8):c.22G>A (p.Gly8Arg) rs114772012 0.02384
NM_001142864.4(PIEZO1):c.588G>T (p.Leu196=) rs142099589 0.02381
NM_001164508.2(NEB):c.612+8T>C rs113095802 0.02379
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_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala) rs28413664 0.02366
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_001242896.3(DEPDC5):c.3358A>G (p.Met1120Val) rs61731662 0.02356
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_194318.4(B3GLCT):c.1105G>A (p.Gly369Ser) rs34638481 0.02336
NM_133379.5(TTN):c.13476C>T (p.Asp4492=) rs72648904 0.02326
NM_005921.2(MAP3K1):c.764A>G (p.Asn255Ser) rs56069227 0.02325
NM_000138.5(FBN1):c.7819+8A>C rs363838 0.02324
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187 0.02323
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_000054.7(AVPR2):c.35G>A (p.Gly12Glu) rs2071126 0.02308
NM_000501.4(ELN):c.2086+5G>C rs111866046 0.02303
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn) rs11896293 0.02293
NM_001204.7(BMPR2):c.2324G>A (p.Ser775Asn) rs2228545 0.02286
NM_000426.4(LAMA2):c.8028T>C (p.Asn2676=) rs35313209 0.02285
NM_001018115.3(FANCD2):c.2702G>T (p.Gly901Val) rs35495399 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_203447.4(DOCK8):c.709G>A (p.Glu237Lys) rs11789099 0.02275
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile) rs76889468 0.02262
NM_080425.4(GNAS):c.1127C>T (p.Pro376Leu) rs61749697 0.02257
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_001164508.2(NEB):c.8466C>T (p.His2822=) rs61730771 0.02236
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys) rs111033430 0.02235
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660 0.02234
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355 0.02232
NM_004260.4(RECQL4):c.1258+6A>T rs34437789 0.02229
NM_020812.4(DOCK6):c.4895C>T (p.Ala1632Val) rs117328686 0.02223
NM_133378.4(TTN):c.93062-10T>C rs202214630 0.02222
NM_001852.4(COL9A2):c.737C>T (p.Thr246Met) rs2228565 0.02212
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751 0.02208
NM_001361.5(DHODH):c.1022C>T (p.Ala341Val) rs61733129 0.02206
NM_207122.2(EXT2):c.-31+474G>A rs112082531 0.02206
NM_003227.4(TFR2):c.2255G>A (p.Arg752His) rs41295942 0.02204
NM_198525.3(KIF7):c.1444-4A>G rs112333674 0.02204
NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser) rs73599293 0.02196
NM_002470.4(MYH3):c.3008C>T (p.Ala1003Val) rs34088014 0.02195
NM_020937.4(FANCM):c.3758A>G (p.Asn1253Ser) rs45604036 0.02192
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=) rs55847232 0.02188
NM_001267550.2(TTN):c.45738T>C (p.Ala15246=) rs2303829 0.02187
NM_201384.3(PLEC):c.8050C>T (p.Arg2684Trp) rs35723243 0.02185
NM_022455.5(NSD1):c.7636G>A (p.Ala2546Thr) rs78247455 0.02182
NM_004628.5(XPC):c.142C>T (p.Leu48Phe) rs2229089 0.02177
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_020937.4(FANCM):c.5627A>G (p.Asn1876Ser) rs45557033 0.02173
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_006031.6(PCNT):c.5879G>A (p.Arg1960Gln) rs34813667 0.02167
NM_000051.4(ATM):c.2639-17G>T rs2234994 0.02161
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_001846.4(COL4A2):c.315+14G>T rs78713113 0.02155
NM_000540.3(RYR1):c.11754T>A (p.Thr3918=) rs45613041 0.02154
NM_018451.5(CENPJ):c.187G>C (p.Asp63His) rs7336216 0.02151
NM_182961.4(SYNE1):c.11621A>C (p.Lys3874Thr) rs13210127 0.02151
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_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_004006.3(DMD):c.4878G>T (p.Val1626=) rs61733574 0.02120
NM_001845.6(COL4A1):c.1084+5C>G rs74508743 0.02118
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=) rs56034831 0.02114
NM_024079.5(ALG8):c.1039-5T>C rs112211908 0.02114
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780 0.02113
NM_001267550.2(TTN):c.67635T>C (p.Val22545=) rs2288570 0.02106
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser) rs34927702 0.02105
NM_020433.5(JPH2):c.1289-7C>T rs116986535 0.02105
NM_004260.4(RECQL4):c.1565G>A (p.Arg522His) rs35842750 0.02097
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg) rs2288563 0.02080
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val) rs16957538 0.02076
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607 0.02075
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832 0.02072
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly) rs72648982 0.02056
NM_001267550.2(TTN):c.51684G>A (p.Ala17228=) rs2288566 0.02055
NM_001267550.2(TTN):c.37040-13A>G rs760603937 0.02053
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=) rs13879 0.02053
NM_006231.4(POLE):c.4290+5C>T rs5744936 0.02053
NM_000142.5(FGFR3):c.1076-17C>T rs17881967 0.02051
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_000069.3(CACNA1S):c.2748C>T (p.His916=) rs2297902 0.02034
NM_006031.6(PCNT):c.9014C>T (p.Thr3005Met) rs60078675 0.02025
NM_000163.5(GHR):c.1473C>T (p.Ser491=) rs6176 0.02017
NM_001164508.2(NEB):c.16021T>C (p.Leu5341=) rs796103760 0.02016
NM_017739.4(POMGNT1):c.1540-16C>T rs10493123 0.02014
NM_001267550.2(TTN):c.86811A>G (p.Val28937=) rs55972010 0.02012
NM_001018115.3(FANCD2):c.516A>G (p.Ile172Met) rs35173688 0.02009
NM_005765.3(ATP6AP2):c.868G>C (p.Ala290Pro) rs35798522 0.02009
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249 0.02007
NM_001365276.2(TNXB):c.10673G>A (p.Arg3558His) rs41267126 0.02004
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.87087T>C (p.Leu29029=) rs12621078 0.01996
NM_001267550.2(TTN):c.91852+8T>A rs56145100 0.01992
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly) rs72648257 0.01992
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=) rs3813247 0.01986
NM_020937.4(FANCM):c.229A>G (p.Thr77Ala) rs61746895 0.01981
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=) rs56214710 0.01979
NM_001379500.1(COL18A1):c.2728-8G>A rs116618591 0.01979
NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys) rs41287110 0.01976
NM_153704.6(TMEM67):c.406+1379G>A rs60659894 0.01971
NM_032119.4(ADGRV1):c.7576A>G (p.Ile2526Val) rs75191159 0.01965
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=) rs2960319 0.01964
NM_004369.4(COL6A3):c.7086A>C (p.Gly2362=) rs35902696 0.01962
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=) rs72851170 0.01961
NM_001365951.3(KIF1B):c.2115+6360G>T rs41274458 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_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser) rs117781224 0.01941
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser) rs72650006 0.01917
NM_201384.3(PLEC):c.342+13G>A rs115664009 0.01917
NM_001844.5(COL2A1):c.610-7G>A rs7967258 0.01915
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_032638.5(GATA2):c.1233G>A (p.Ala411=) rs34172218 0.01909
NM_005529.7(HSPG2):c.6114C>G (p.Ile2038Met) rs116788687 0.01908
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=) rs61735829 0.01898
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_152281.3(GORAB):c.62-3T>C rs73029138 0.01889
NM_001142864.4(PIEZO1):c.4385G>A (p.Arg1462Gln) rs188337046 0.01884
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu) rs2229792 0.01881
NM_022725.4(FANCF):c.825G>A (p.Leu275=) rs36045913 0.01879
NM_032444.4(SLX4):c.2824G>C (p.Glu942Gln) rs114014006 0.01879
NM_020812.4(DOCK6):c.2956-5C>T rs3810309 0.01873
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=) rs72648983 0.01872
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01865
NM_001267550.2(TTN):c.37461A>T (p.Glu12487Asp) rs200021871 0.01863
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=) rs28763946 0.01862
NM_000168.6(GLI3):c.2835G>C (p.Leu945=) rs61758978 0.01858
NM_001267550.2(TTN):c.36952G>A (p.Val12318Ile) rs762149243 0.01857
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_173689.7(CRB2):c.2680G>A (p.Gly894Ser) rs144714250 0.01838
NM_020778.5(ALPK3):c.2177A>G (p.Gln726Arg) rs78778733 0.01836
NM_018344.6(SLC29A3):c.842T>C (p.Leu281Pro) rs79737301 0.01835
NM_020778.5(ALPK3):c.2431G>A (p.Glu811Lys) rs35633849 0.01835
NM_030777.4(SLC2A10):c.1154C>G (p.Ala385Gly) rs79849424 0.01835
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_182914.3(SYNE2):c.12122G>A (p.Arg4041His) rs17101661 0.01834
NM_001130004.2(ACTN1):c.2663C>T (p.Pro888Leu) rs77499007 0.01831
NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=) rs35993209 0.01827
NM_004369.4(COL6A3):c.3071-16G>A rs73998896 0.01822
NM_004369.4(COL6A3):c.8145A>G (p.Leu2715=) rs35763271 0.01816
NM_177438.3(DICER1):c.4206+9_4206+17del rs772457274 0.01816
NM_004369.4(COL6A3):c.7995A>C (p.Ala2665=) rs80193928 0.01815
NM_022455.5(NSD1):c.2071G>A (p.Ala691Thr) rs28932177 0.01809
NM_002334.4(LRP4):c.5165T>A (p.Leu1722His) rs117936904 0.01806
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
NM_001848.3(COL6A1):c.1957-5C>T rs78224483 0.01793
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg) rs115517108 0.01785
NM_001267550.2(TTN):c.542G>A (p.Ser181Asn) rs72647843 0.01782
NM_000540.3(RYR1):c.12624+14C>T rs75797287 0.01777
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe) rs2163649 0.01776
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu) rs34071195 0.01772
NM_006502.3(POLH):c.1783A>G (p.Met595Val) rs9333555 0.01768
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701 0.01764
NM_001164508.2(NEB):c.8318G>A (p.Arg2773Gln) rs35974308 0.01764
NM_001567.4(INPPL1):c.1894C>A (p.Leu632Ile) rs61749195 0.01759
NM_000142.5(FGFR3):c.348C>T (p.Arg116=) rs2305179 0.01752
NM_001278495.2(NUTM2B):c.2027T>C (p.Met676Thr) rs61863495 0.01752
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=) rs16029 0.01749
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288 0.01748
NM_001184.4(ATR):c.946G>A (p.Val316Ile) rs28897764 0.01744
NM_003212.4(CRIPTO):c.331C>G (p.Arg111Gly) rs34501971 0.01743
NM_016495.6(TBC1D7):c.200T>G (p.Leu67Trp) rs543580 0.01739
NM_000083.3(CLCN1):c.2284+5C>T rs74824159 0.01735
NM_000426.4(LAMA2):c.1491T>C (p.Cys497=) rs2306220 0.01733
NM_001164508.2(NEB):c.23381C>T (p.Ser7794Leu) rs41270201 0.01730
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile) rs61340537 0.01730
NM_000426.4(LAMA2):c.8124T>A (p.Gly2708=) rs34997144 0.01727
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925 0.01714
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962 0.01709
NM_001845.6(COL4A1):c.501C>T (p.Pro167=) rs16975612 0.01708
NM_005676.5(RBM10):c.1891G>C (p.Ala631Pro) rs79693964 0.01703
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995 0.01693
NM_001267550.2(TTN):c.37202-4T>C rs202032281 0.01693
NM_001164508.2(NEB):c.21856G>A (p.Asp7286Asn) rs35625617 0.01691
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956 0.01688
NM_004366.6(CLCN2):c.2154G>C (p.Glu718Asp) rs2228292 0.01679
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851 0.01678
NM_001852.4(COL9A2):c.955-4C>G rs118135975 0.01678
NM_004006.3(DMD):c.832-17C>A rs72470514 0.01678
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys) rs77697105 0.01678
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323 0.01675
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_001267550.2(TTN):c.36855G>A (p.Pro12285=) rs535294541 0.01666
NM_000142.5(FGFR3):c.1075+5C>T rs3135885 0.01659
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_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01651
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val) rs72648954 0.01649
NM_001283009.2(RTEL1):c.3101C>A (p.Pro1034His) rs115610405 0.01644
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01643
NM_001184.4(ATR):c.2875G>A (p.Val959Met) rs28910271 0.01643
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939 0.01642
NM_001171.6(ABCC6):c.2171G>A (p.Arg724Lys) rs58073789 0.01638
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg) rs41291187 0.01638
NM_001267550.2(TTN):c.98164A>T (p.Ile32722Phe) rs72648270 0.01635
NM_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808 0.01628
NM_001164508.2(NEB):c.571G>C (p.Glu191Gln) rs35686968 0.01624
NM_001145809.2(MYH14):c.483G>A (p.Met161Ile) rs34773557 0.01615
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_020937.4(FANCM):c.4799C>T (p.Thr1600Ile) rs61746943 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_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401 0.01606
NM_004366.6(CLCN2):c.2063G>A (p.Arg688Gln) rs111656822 0.01603
NM_152296.5(ATP1A3):c.994-20T>G rs138485069 0.01603
NM_053274.3(GLMN):c.977+7T>A rs61758979 0.01597
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=) rs142518033 0.01592
NM_012452.3(TNFRSF13B):c.659T>C (p.Val220Ala) rs56063729 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_007194.4(CHEK2):c.1542+11T>A rs17881716 0.01583
NM_001197104.2(KMT2A):c.89C>G (p.Ala30Gly) rs9332745 0.01573
NM_021939.4(FKBP10):c.1400-4C>G rs114199361 0.01571
NM_003737.4(DCHS1):c.6272G>C (p.Arg2091Thr) rs2659874 0.01569
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln) rs112197217 0.01566
NM_001134888.3(RTL1):c.2554G>A (p.Ala852Thr) rs112608318 0.01563
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) rs72647875 0.01559
NM_007078.3(LDB3):c.609G>A (p.Ser203=) rs45531131 0.01554
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys) rs80356569 0.01549
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038 0.01548
NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val) rs12481791 0.01548
NM_000051.4(ATM):c.2193C>T (p.Tyr731=) rs2229019 0.01543
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr) rs744427 0.01542
NM_000435.3(NOTCH3):c.6102C>T (p.Pro2034=) rs114887570 0.01539
NM_002473.6(MYH9):c.3838-12C>T rs113698937 0.01529
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val) rs9924241 0.01528
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala) rs28730849 0.01527
NM_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_000642.3(AGL):c.82+1565T>G rs145049634 0.01521
NM_001458.5(FLNC):c.8121T>C (p.Ile2707=) rs28437296 0.01520
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_001171.6(ABCC6):c.3507-3C>T rs41278172 0.01517
NM_005908.4(MANBA):c.2482G>A (p.Val828Ile) rs75826658 0.01517
NM_001458.5(FLNC):c.1374C>T (p.Pro458=) rs115140972 0.01514
NM_021098.3(CACNA1H):c.5897C>T (p.Ala1966Val) rs72552054 0.01514
NM_001845.6(COL4A1):c.2124G>A (p.Gly708=) rs78426988 0.01512
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01511
NM_000428.3(LTBP2):c.3262G>A (p.Gly1088Ser) rs61505039 0.01509
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_004006.3(DMD):c.832-18C>G rs72470515 0.01505
NM_001267550.2(TTN):c.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_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362 0.01494
NM_020297.4(ABCC9):c.1848C>T (p.Asp616=) rs61001398 0.01493
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_005573.4(LMNB1):c.1502C>T (p.Ala501Val) rs36105360 0.01478
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys) rs79926414 0.01477
NM_201384.3(PLEC):c.1706G>A (p.Arg569Gln) rs3135103 0.01472
NM_001267550.2(TTN):c.40141+7G>A rs77960621 0.01470
NM_000136.3(FANCC):c.843+4C>T rs4647506 0.01468
NM_001458.5(FLNC):c.8118C>T (p.Leu2706=) rs28379666 0.01465
NM_005902.4(SMAD3):c.870C>T (p.Ile290=) rs117185005 0.01464
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370 0.01462
NM_025074.7(FRAS1):c.308A>T (p.Glu103Val) rs78711748 0.01459
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_201384.3(PLEC):c.13205C>T (p.Thr4402Met) rs113513807 0.01455
NM_025074.7(FRAS1):c.979C>T (p.Arg327Trp) rs61999335 0.01454
NM_004826.4(ECEL1):c.1267G>C (p.Glu423Gln) rs41265123 0.01449
NM_003738.5(PTCH2):c.2127C>T (p.Asp709=) rs11573587 0.01447
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) rs28997576 0.01443
NM_138387.4(G6PC3):c.416+5A>G rs73306693 0.01443
NM_138387.4(G6PC3):c.647C>T (p.Thr216Ile) rs34406052 0.01442
NM_014140.4(SMARCAL1):c.127G>A (p.Ala43Thr) rs2066524 0.01441
NM_014967.5(FAN1):c.1851C>T (p.Ser617=) rs118060760 0.01439
NM_021971.4(GMPPB):c.376C>G (p.His126Asp) rs34345884 0.01439
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097 0.01438
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947 0.01435
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val) rs16866391 0.01426
NM_005373.3(MPL):c.117G>T (p.Lys39Asn) rs17292650 0.01420
NM_001267550.2(TTN):c.3993C>T (p.Ile1331=) rs55757622 0.01419
NM_003238.6(TGFB2):c.643+7A>C rs7531245 0.01418
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252 0.01416
NM_001164508.2(NEB):c.15821A>T (p.Asn5274Ile) rs45612241 0.01414
NM_004523.4(KIF11):c.3126G>C (p.Leu1042Phe) rs34417963 0.01412
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=) rs2303836 0.01401
NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr) rs61748814 0.01397
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_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305 0.01384
NM_004153.4(ORC1):c.1115C>T (p.Ala372Val) rs3087476 0.01375
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu) rs6262 0.01372
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_001164508.2(NEB):c.11148G>C (p.Met3716Ile) rs149025191 0.01369
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757 0.01363
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595 0.01363
NM_003978.5(PSTPIP1):c.773G>C (p.Gly258Ala) rs34240327 0.01363
NM_001844.5(COL2A1):c.1266+7G>A rs41317915 0.01359
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435 0.01358
NM_001267550.2(TTN):c.10700G>A (p.Ser3567Asn) rs72955213 0.01357
NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=) rs533485167 0.01351
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile) rs16866457 0.01351
NM_138694.4(PKHD1):c.11174+11A>G rs115072237 0.01349
NM_178138.6(LHX3):c.454+3C>T rs34356735 0.01349
NM_001040108.2(MLH3):c.691A>C (p.Lys231Gln) rs28756981 0.01348
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_133379.5(TTN):c.13478A>C (p.Lys4493Thr) rs78457662 0.01346
NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val) rs34070843 0.01345
NM_005055.5(RAPSN):c.614G>A (p.Arg205Gln) rs34625105 0.01344
NM_004407.4(DMP1):c.1388A>G (p.Lys463Arg) rs34661425 0.01341
NM_032122.5(DTNBP1):c.886C>T (p.Pro296Ser) rs74907982 0.01341
NM_133379.5(TTN):c.13608C>T (p.Ser4536=) rs72648905 0.01336
NM_004369.4(COL6A3):c.8822C>T (p.Ala2941Val) rs11903206 0.01334
NM_005529.7(HSPG2):c.8848G>A (p.Gly2950Arg) rs41266007 0.01322
NM_006231.4(POLE):c.91G>T (p.Ala31Ser) rs34047482 0.01320
NM_004525.3(LRP2):c.3452C>T (p.Pro1151Leu) rs150552608 0.01319
NM_001379500.1(COL18A1):c.3823G>T (p.Val1275Leu) rs61736805 0.01313
NM_052854.4(CREB3L1):c.454G>A (p.Ala152Thr) rs199951144 0.01311
NM_001267550.2(TTN):c.37009C>T (p.Pro12337Ser) rs201474544 0.01309
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_001267550.2(TTN):c.2949C>T (p.Ile983=) rs56310516 0.01308
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys) rs72646869 0.01305
NM_000168.6(GLI3):c.3083G>T (p.Ser1028Ile) rs79049330 0.01304
NM_001291303.3(FAT4):c.14135C>G (p.Ser4712Cys) rs147662558 0.01304
NM_000552.5(VWF):c.5843-8C>G rs34444862 0.01303
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831 0.01296
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646 0.01295
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met) rs16866475 0.01294
NM_014687.4(RUBCN):c.2126C>T (p.Thr709Met) rs35071969 0.01288
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_000546.6(TP53):c.639A>G (p.Arg213=) rs1800372 0.01275
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu) rs11670799 0.01273
NM_001159699.2(FHL1):c.737-13T>C rs11798700 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_001267550.2(TTN):c.4630A>G (p.Ile1544Val) rs72647877 0.01259
NM_025074.7(FRAS1):c.8417C>T (p.Thr2806Met) rs114190041 0.01251
NM_000426.4(LAMA2):c.1798G>A (p.Gly600Arg) rs36044314 0.01250
NM_025074.7(FRAS1):c.9955C>G (p.Gln3319Glu) rs78619145 0.01249
NM_001939.3(DRP2):c.1454+5G>A rs138775194 0.01247
NM_000540.3(RYR1):c.12012+19T>C rs181590606 0.01243
NM_005529.7(HSPG2):c.5998-7A>G rs148336692 0.01243
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813 0.01242
NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=) rs17849079 0.01239
NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His) rs145911138 0.01237
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_152383.5(DIS3L2):c.1488T>C (p.His496=) rs72998118 0.01233
NM_001458.5(FLNC):c.6004+19G>A rs12530507 0.01231
NM_020451.3(SELENON):c.409A>G (p.Thr137Ala) rs35019869 0.01231
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_002755.4(MAP2K1):c.711G>A (p.Gly237=) rs17586159 0.01226
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=) rs16012 0.01217
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124 0.01216
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=) rs41276894 0.01215
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795 0.01215
NM_001844.5(COL2A1):c.2484G>C (p.Gly828=) rs1793940 0.01213
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134 0.01212
NM_004006.3(DMD):c.3021G>A (p.Ser1007=) rs1800268 0.01212
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser) rs111527738 0.01206
NM_018451.5(CENPJ):c.287A>G (p.His96Arg) rs61739263 0.01206
NM_001377.3(DYNC2H1):c.195+7T>C rs112718117 0.01205
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725 0.01203
NM_004369.4(COL6A3):c.1389C>T (p.Ala463=) rs112896869 0.01203
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069 0.01203
NM_001267550.2(TTN):c.1003G>A (p.Val335Met) rs72647846 0.01195
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615 0.01194
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387 0.01193
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913 0.01192
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=) rs55977045 0.01192
NM_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_001267550.2(TTN):c.36625G>T (p.Val12209Leu) rs72650053 0.01188
NM_001267550.2(TTN):c.11719C>G (p.Leu3907Val) rs55853696 0.01185
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=) rs67041405 0.01183
NM_001848.3(COL6A1):c.859-20C>T rs78884675 0.01182
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920 0.01176
NM_173630.4(RTTN):c.1008-4G>T rs151203272 0.01176
NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn) rs151315725 0.01175
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg) rs17355460 0.01172
NM_001267550.2(TTN):c.1398+8C>T rs72647848 0.01171
NM_001368894.2(PAX6):c.369G>A (p.Glu123=) rs114384476 0.01168
NM_152383.5(DIS3L2):c.426C>T (p.Pro142=) rs73001172 0.01166
NM_001848.3(COL6A1):c.958-17G>A rs79364611 0.01165
NM_000257.4(MYH7):c.3972+15C>T rs3729820 0.01159
NM_022725.4(FANCF):c.959C>T (p.Pro320Leu) rs45451294 0.01158
NM_006129.5(BMP1):c.2450T>C (p.Val817Ala) rs80019749 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_025099.6(CTC1):c.1383G>A (p.Gln461=) rs145192682 0.01148
NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu) rs113445782 0.01143
NM_001040108.2(MLH3):c.1258G>A (p.Val420Ile) rs28756982 0.01142
NM_001367805.3(KIF23):c.1585T>C (p.Phe529Leu) rs17310879 0.01142
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_001267550.2(TTN):c.36489G>A (p.Ala12163=) rs115493456 0.01140
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_015338.6(ASXL1):c.2513A>G (p.Lys838Arg) rs35632616 0.01138
NM_006231.4(POLE):c.2174-8G>A rs117409343 0.01137
NM_015294.6(TRIM37):c.861-6C>T rs145324030 0.01135
NM_001130823.3(DNMT1):c.206G>A (p.Arg69His) rs61750053 0.01134
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_001711.6(BGN):c.257A>G (p.Lys86Arg) rs146073993 0.01131
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) rs59291670 0.01123
NM_000163.5(GHR):c.1319G>T (p.Cys440Phe) rs6182 0.01122
NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg) rs148033592 0.01117
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_001164508.2(NEB):c.6717T>G (p.Ile2239Met) rs78733601 0.01102
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly) rs28363284 0.01102
NM_176787.5(PIGN):c.167C>T (p.Ala56Val) rs61755362 0.01101
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu) rs61733587 0.01098
NM_001365951.3(KIF1B):c.4798G>A (p.Val1600Met) rs77172218 0.01096
NM_001845.6(COL4A1):c.279+20A>T rs79359215 0.01095
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln) rs3219497 0.01092
NM_000264.5(PTCH1):c.2199A>G (p.Ser733=) rs2227970 0.01091
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
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_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 0.01080
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val) rs66961115 0.01079
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856 0.01079
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser) rs77555300 0.01077
NM_001555.5(IGSF1):c.1184T>G (p.Leu395Arg) rs139140137 0.01076
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=) rs56375087 0.01075
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile) rs55842557 0.01073
NM_001164508.2(NEB):c.5567G>A (p.Arg1856Gln) rs141930814 0.01071
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) rs78039319 0.01071
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555 0.01070
NM_006005.3(WFS1):c.1800C>T (p.Thr600=) rs71524362 0.01070
NM_001267550.2(TTN):c.11019C>T (p.Cys3673=) rs72955212 0.01069
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) rs1805069 0.01068
NM_000152.5(GAA):c.1075+13C>T rs41292402 0.01065
NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=) rs41292143 0.01062
NM_001846.4(COL4A2):c.1340-20A>C rs9515217 0.01061
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr) rs113155945 0.01061
NM_020451.3(SELENON):c.583G>A (p.Ala195Thr) rs115852080 0.01060
NM_002633.3(PGM1):c.247-5664G>A rs77043134 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_004366.6(CLCN2):c.2271+8T>G rs114350071 0.01055
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala) rs16019 0.01053
NM_001040108.2(MLH3):c.2896T>C (p.Ser966Pro) rs17782839 0.01052
NM_001378452.1(ITPR1):c.2305A>G (p.Met769Val) rs35789999 0.01046
NM_000360.4(TH):c.1200+9C>T rs11564717 0.01045
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=) rs719202 0.01042
NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg) rs35198096 0.01041
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_001184.4(ATR):c.891G>C (p.Lys297Asn) rs2229033 0.01036
NM_052989.3(IFT122):c.1943A>C (p.Glu648Ala) rs144397126 0.01035
NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His) rs140192268 0.01034
NM_001017995.3(SH3PXD2B):c.986C>T (p.Pro329Leu) rs75198607 0.01032
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=) rs73036373 0.01031
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=) rs17885216 0.01029
NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707 0.01025
NM_002968.3(SALL1):c.3872A>G (p.Asn1291Ser) rs74499562 0.01024
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile) rs72646850 0.01020
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_006846.4(SPINK5):c.1764T>G (p.Ile588Met) rs35877540 0.01015
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314 0.01013
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly) rs72648951 0.01012
NM_014243.3(ADAMTS3):c.1754A>G (p.Asn585Ser) rs150270324 0.01011
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile) rs1800269 0.01009
NM_015102.5(NPHP4):c.1852G>A (p.Glu618Lys) rs571655 0.01009
NM_000124.4(ERCC6):c.1337G>A (p.Gly446Asp) rs4253047 0.01008
NM_001382430.1(AKT1):c.1251C>T (p.Tyr417=) rs139297659 0.01008
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_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly) rs117412802 0.01005
NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val) rs1127291 0.01003
NM_001079802.2(FKTN):c.42G>A (p.Thr14=) rs78794935 0.01002
NM_001079802.2(FKTN):c.106-10G>A rs148384394 0.01000
NM_182914.3(SYNE2):c.16639G>A (p.Asp5547Asn) rs17179194 0.00998
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe) rs140118273 0.00997
NM_001288705.3(CSF1R):c.1237G>A (p.Gly413Ser) rs34951517 0.00996
NM_001555.5(IGSF1):c.1796A>C (p.Asn599Thr) rs146462069 0.00995
NM_001457.4(FLNB):c.6017A>G (p.Lys2006Arg) rs62621996 0.00994
NM_182914.3(SYNE2):c.19639A>G (p.Ile6547Val) rs45453691 0.00993
NM_001360.3(DHCR7):c.99-4G>A rs140748737 0.00988
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141 0.00982
NM_014314.4(RIGI):c.212G>A (p.Arg71His) rs72710678 0.00981
NM_024513.4(FYCO1):c.3419G>A (p.Arg1140Gln) rs41289620 0.00981
NM_030928.4(CDT1):c.130A>C (p.Thr44Pro) rs587780306 0.00981
NM_052989.3(IFT122):c.1854C>T (p.Ser618=) rs146874343 0.00981
NM_001379500.1(COL18A1):c.3610G>A (p.Ala1204Thr) rs144147445 0.00980
NM_007137.5(ZNF81):c.554C>T (p.Ser185Leu) rs186251256 0.00975
NM_000546.6(TP53):c.108G>A (p.Pro36=) rs1800370 0.00974
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln) rs34819099 0.00971
NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val) rs149140724 0.00970
NM_007325.5(GRIA3):c.1501-8T>A rs139058646 0.00969
NM_032444.4(SLX4):c.1153C>A (p.Pro385Thr) rs115694169 0.00968
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys) rs12471771 0.00967
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr) rs150682895 0.00967
NM_152705.3(POLR1D):c.278A>G (p.His93Arg) rs118191175 0.00967
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747 0.00964
NM_025074.7(FRAS1):c.518G>A (p.Arg173Gln) rs147332320 0.00963
NM_015346.4(ZFYVE26):c.5612G>A (p.Cys1871Tyr) rs61746722 0.00962
NM_001083961.2(WDR62):c.1642+8C>T rs143309981 0.00960
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu) rs2227968 0.00959
NM_001130823.3(DNMT1):c.290A>G (p.His97Arg) rs16999593 0.00959
NM_020812.4(DOCK6):c.441G>C (p.Lys147Asn) rs34545822 0.00959
NM_001267550.2(TTN):c.17741-9A>G rs72648944 0.00958
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu) rs1007211 0.00957
NM_001324144.2(ZNF41):c.945T>G (p.Asp315Glu) rs2498170 0.00954
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970 0.00952
NM_000791.4(DHFR):c.-416C>G rs2001675 0.00949
NM_020964.3(EPG5):c.1271G>A (p.Ser424Asn) rs117817123 0.00946
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
NM_001144997.2(ITGA7):c.38C>T (p.Thr13Ile) rs11171663 0.00943
NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln) rs61734951 0.00943
NM_201384.3(PLEC):c.12360G>A (p.Pro4120=) rs146781600 0.00943
NM_005236.3(ERCC4):c.252C>T (p.Leu84=) rs3136056 0.00941
NM_001365999.1(SZT2):c.2578G>A (p.Glu860Lys) rs143992266 0.00936
NM_017668.3(NDE1):c.572C>T (p.Thr191Ile) rs113493697 0.00935
NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg) rs111449472 0.00935
NM_138477.4(CDAN1):c.3194G>A (p.Arg1065Gln) rs61746356 0.00932
NM_000165.5(GJA1):c.758C>T (p.Ala253Val) rs17653265 0.00930
NM_001308093.3(GATA4):c.1116A>G (p.Ser372=) rs112435835 0.00928
NM_014822.4(SEC24D):c.653C>G (p.Ala218Gly) rs35392900 0.00928
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850 0.00928
NM_021098.3(CACNA1H):c.1120-8C>T rs59091981 0.00928
NM_002016.2(FLG):c.6073G>A (p.Gly2025Arg) rs144517370 0.00927
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln) rs112545413 0.00927
NM_015268.4(DNAJC13):c.2292-6G>A rs35575948 0.00927
NM_022042.4(SLC26A1):c.*878G>A rs147498923 0.00924
NM_000249.4(MLH1):c.1732-19T>A rs77120160 0.00923
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
NM_004826.4(ECEL1):c.967-7C>G rs76735188 0.00917
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_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00910
NM_004826.4(ECEL1):c.426C>A (p.Asp142Glu) rs144928688 0.00909
NM_025074.7(FRAS1):c.4940C>T (p.Thr1647Ile) rs34271211 0.00909
NM_002055.5(GFAP):c.96T>C (p.Gly32=) rs60045579 0.00908
NM_004035.7(ACOX1):c.1771C>T (p.Arg591Cys) rs35629489 0.00908
NM_014822.4(SEC24D):c.1576C>T (p.Leu526Phe) rs141180741 0.00908
NM_001040108.2(MLH3):c.8A>G (p.Lys3Arg) rs114829239 0.00905
NM_017813.5(BPNT2):c.856A>G (p.Lys286Glu) rs112433249 0.00905
NM_015158.5(KANK1):c.206C>T (p.Pro69Leu) rs61737969 0.00903
NM_007254.4(PNKP):c.1127-8C>T rs3739203 0.00901
NM_024408.4(NOTCH2):c.272G>T (p.Arg91Leu) rs143195893 0.00899
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303 0.00897
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr) rs191886831 0.00894
NM_006059.4(LAMC3):c.2516C>T (p.Thr839Met) rs57816762 0.00893
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747 0.00892
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr) rs11570680 0.00890
NM_000548.5(TSC2):c.4990-7C>T rs45457095 0.00888
NM_021942.6(TRAPPC11):c.145G>C (p.Val49Leu) rs141909783 0.00888
NM_001999.4(FBN2):c.1466-5C>T rs28763952 0.00887
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_000875.5(IGF1R):c.1686G>A (p.Val562=) rs2228531 0.00884
NM_001114753.3(ENG):c.1374A>G (p.Pro458=) rs34828244 0.00879
NM_000540.3(RYR1):c.10259+7G>A rs143752962 0.00875
NM_003919.3(SGCE):c.1253+814G>A rs183951730 0.00875
NM_000466.3(PEX1):c.812A>G (p.Asn271Ser) rs138183109 0.00874
NM_001042545.2(LTBP4):c.2812+6C>T rs190107102 0.00874
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=) rs193922854 0.00873
NM_001164508.2(NEB):c.10347+6C>T rs141088433 0.00870
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572 0.00870
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_000426.4(LAMA2):c.8548-10T>C rs113644365 0.00865
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
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_016734.3(PAX5):c.964G>A (p.Ala322Thr) rs34810717 0.00861
NM_001845.6(COL4A1):c.4005C>T (p.Gly1335=) rs140722653 0.00856
NM_006846.4(SPINK5):c.2905A>G (p.Lys969Glu) rs3188691 0.00856
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=) rs140237315 0.00855
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541 0.00853
NM_001061.7(TBXAS1):c.1246C>G (p.Gln416Glu) rs4528 0.00853
NM_176787.5(PIGN):c.2712T>G (p.Phe904Leu) rs34231046 0.00853
NM_001164508.2(NEB):c.16669A>G (p.Ile5557Val) rs113439353 0.00852
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00852
NM_004577.4(PSPH):c.169C>T (p.Pro57Ser) rs79321413 0.00851
NM_006059.4(LAMC3):c.2039C>T (p.Thr680Met) rs73658916 0.00851
NM_139057.4(ADAMTS17):c.1651G>A (p.Ala551Thr) rs61754841 0.00851
NM_001171.6(ABCC6):c.3289C>A (p.Leu1097Ile) rs60707953 0.00849
NM_032444.4(SLX4):c.710G>A (p.Arg237Gln) rs138615800 0.00848
NM_001853.4(COL9A3):c.308G>A (p.Arg103Gln) rs142639450 0.00847
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val) rs75937132 0.00847
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_001142864.4(PIEZO1):c.998G>A (p.Arg333His) rs139099911 0.00845
NM_006005.3(WFS1):c.930A>G (p.Ala310=) rs115561278 0.00845
NM_001853.4(COL9A3):c.520-6C>T rs45476191 0.00844
NM_001458.5(FLNC):c.2390-14C>T rs71581921 0.00843
NM_001458.5(FLNC):c.6771A>G (p.Pro2257=) rs34422412 0.00842
NM_006846.4(SPINK5):c.2241-6C>T rs190365795 0.00842
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213 0.00841
NM_002775.5(HTRA1):c.59C>T (p.Ala20Val) rs369149111 0.00841
NM_182961.4(SYNE1):c.10022T>C (p.Val3341Ala) rs138693624 0.00841
NM_000033.4(ABCD1):c.901-16C>T rs41302176 0.00840
NM_024513.4(FYCO1):c.1843C>T (p.Arg615Trp) rs149507450 0.00840
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys) rs143524436 0.00835
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser) rs2229558 0.00834
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155 0.00831
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) rs55861600 0.00828
NM_001807.6(CEL):c.2064C>G (p.Gly688=) rs373329036 0.00828
NM_002335.4(LRP5):c.266A>G (p.Gln89Arg) rs41494349 0.00826
NM_005245.4(FAT1):c.7700G>A (p.Arg2567His) rs116784674 0.00826
NM_015909.4(NBAS):c.3755C>A (p.Ser1252Tyr) rs114866170 0.00825
NM_020549.5(CHAT):c.1682G>A (p.Arg561Gln) rs80097077 0.00825
NM_000051.4(ATM):c.8419-19A>G rs12279930 0.00824
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_020937.4(FANCM):c.5224A>G (p.Ile1742Val) rs143662421 0.00824
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721 0.00820
NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=) rs150857429 0.00816
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_001371623.1(TCOF1):c.1783G>A (p.Val595Ile) rs75583421 0.00814
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys) rs35062203 0.00814
NM_001184.4(ATR):c.268C>T (p.His90Tyr) rs28897763 0.00813
NM_003072.5(SMARCA4):c.4768+15G>C rs113131294 0.00813
NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys) rs148912436 0.00813
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_000428.3(LTBP2):c.1553G>T (p.Ser518Ile) rs137854857 0.00812
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992 0.00811
NM_003332.4(TYROBP):c.163G>T (p.Val55Leu) rs77782321 0.00810
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068 0.00810
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301 0.00809
NM_001194998.2(CEP152):c.2378G>T (p.Ser793Ile) rs2289178 0.00809
NM_001079802.2(FKTN):c.166-6A>G rs41277795 0.00808
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007 0.00808
NM_002016.2(FLG):c.1741A>T (p.Thr581Ser) rs145627745 0.00808
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596 0.00808
NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg) rs144635565 0.00806
NM_001079802.2(FKTN):c.910+14G>A rs76180538 0.00806
NM_133379.5(TTN):c.14244T>C (p.Leu4748=) rs139669372 0.00806
NM_002016.2(FLG):c.6220G>C (p.Glu2074Gln) rs141120727 0.00804
NM_002661.5(PLCG2):c.1712A>G (p.Asn571Ser) rs75472618 0.00802
NM_020812.4(DOCK6):c.3913C>T (p.Arg1305Cys) rs112911897 0.00801
NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) rs77960347 0.00800
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=) rs56310931 0.00799
NM_001369.3(DNAH5):c.6579+6A>G rs141389162 0.00798
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_001372106.1(DNAH10):c.6040G>A (p.Val2014Met) rs75173589 0.00796
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744 0.00795
NM_001379500.1(COL18A1):c.2173G>A (p.Val725Met) rs116111018 0.00795
NM_001164508.2(NEB):c.24208-7C>T rs113048349 0.00793
NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser) rs149363094 0.00792
NM_001348800.3(ZBTB20):c.154A>G (p.Thr52Ala) rs72950611 0.00790
NM_004525.3(LRP2):c.13803G>A (p.Met4601Ile) rs34564141 0.00790
NM_012293.3(PXDN):c.4088G>A (p.Gly1363Glu) rs61747868 0.00788
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu) rs56219475 0.00787
NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met) rs78461695 0.00787
NM_005529.7(HSPG2):c.8929C>T (p.Arg2977Trp) rs114851469 0.00786
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser) rs28763945 0.00784
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_001845.6(COL4A1):c.3693G>A (p.Thr1231=) rs117738194 0.00782
NM_080425.4(GNAS):c.525T>C (p.Ser175=) rs114255910 0.00782
NM_170707.4(LMNA):c.438C>T (p.Ala146=) rs80356805 0.00782
NM_001846.4(COL4A2):c.888A>G (p.Gly296=) rs114482753 0.00777
NM_003922.4(HERC1):c.570C>T (p.Asn190=) rs2228514 0.00777
NM_001142864.4(PIEZO1):c.1527C>A (p.Thr509=) rs76834910 0.00776
NM_004370.6(COL12A1):c.6590C>T (p.Thr2197Ile) rs117038107 0.00776
NM_001386298.1(CIC):c.7510T>C (p.Ser2504Pro) rs745695673 0.00775
NM_006005.3(WFS1):c.1308C>T (p.Thr436=) rs71539646 0.00773
NM_001040108.2(MLH3):c.1870G>C (p.Glu624Gln) rs28756986 0.00772
NM_000875.5(IGF1R):c.1914C>T (p.Asn638=) rs45506098 0.00771
NM_006031.6(PCNT):c.4910C>T (p.Pro1637Leu) rs34849154 0.00771
NM_006031.6(PCNT):c.7159G>A (p.Val2387Met) rs75024419 0.00771
NM_148919.4(PSMB8):c.220A>T (p.Thr74Ser) rs17220206 0.00770
NM_000428.3(LTBP2):c.4769T>C (p.Val1590Ala) rs139932140 0.00769
NM_006218.4(PIK3CA):c.363C>T (p.Ile121=) rs115746478 0.00769
NM_014208.3(DSPP):c.2012G>A (p.Ser671Asn) rs200839637 0.00769
NM_001680.5(FXYD2):c.*6+6C>A rs11827585 0.00767
NM_000702.4(ATP1A2):c.129G>A (p.Lys43=) rs61734527 0.00766
NM_006031.6(PCNT):c.7914-4G>A rs76287849 0.00764
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_000195.5(HPS1):c.779G>A (p.Arg260Gln) rs56378825 0.00761
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) rs56177950 0.00760
NM_006031.6(PCNT):c.7404G>C (p.Gln2468His) rs77075366 0.00759
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534 0.00759
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=) rs61730035 0.00758
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His) rs59887778 0.00758
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_020381.4(PDSS2):c.11G>C (p.Arg4Pro) rs3734676 0.00757
NM_020381.4(PDSS2):c.7T>C (p.Phe3Leu) rs3734675 0.00756
NM_005138.3(SCO2):c.763C>A (p.Arg255=) rs112793292 0.00755
NM_006019.4(TCIRG1):c.2476G>A (p.Ala826Thr) rs75596506 0.00755
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=) rs201354526 0.00754
NM_022356.4(P3H1):c.611C>A (p.Pro204His) rs77208721 0.00751
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597 0.00750
NM_001142864.4(PIEZO1):c.5195C>T (p.Thr1732Met) rs139051768 0.00749
NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu) rs61745086 0.00748
NM_014391.3(ANKRD1):c.348G>A (p.Thr116=) rs137914723 0.00748
NM_004006.3(DMD):c.3603+8A>G rs193249735 0.00743
NM_001288705.3(CSF1R):c.2709C>T (p.Phe903=) rs41287094 0.00742
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys) rs72957510 0.00742
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr) rs116826041 0.00739
NM_020297.4(ABCC9):c.3409G>A (p.Val1137Ile) rs147895473 0.00739
NM_000334.4(SCN4A):c.3441+7G>A rs142270113 0.00738
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln) rs183329050 0.00737
NM_001009944.3(PKD1):c.9270C>T (p.Val3090=) rs149056734 0.00736
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile) rs35707762 0.00734
NM_004525.3(LRP2):c.10403C>T (p.Pro3468Leu) rs143367996 0.00734
NM_080425.4(GNAS):c.500A>G (p.Asp167Gly) rs61749695 0.00734
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783 0.00733
NM_019066.5(MAGEL2):c.1079C>T (p.Ala360Val) rs111759069 0.00733
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00733
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly) rs202111971 0.00732
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447 0.00731
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_001353108.3(CEP63):c.1155C>A (p.Asn385Lys) rs34189216 0.00729
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys) rs146953558 0.00728
NM_001374828.1(ARID1B):c.5576A>C (p.Glu1859Ala) rs149518409 0.00727
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg) rs139014478 0.00721
NM_001844.5(COL2A1):c.708+8C>T rs41317893 0.00720
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505 0.00719
NM_001364171.2(ODAD1):c.1214G>A (p.Arg405Gln) rs73585360 0.00719
NM_001395413.1(POR):c.360C>T (p.Ala120=) rs41299490 0.00719
NM_001458.5(FLNC):c.6004+11G>A rs117653869 0.00719
NM_002335.4(LRP5):c.687-8G>A rs190810239 0.00718
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855 0.00718
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys) rs141703710 0.00717
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381 0.00715
NM_021098.3(CACNA1H):c.3175G>T (p.Ala1059Ser) rs41292285 0.00715
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_018965.4(TREM2):c.185G>A (p.Arg62His) rs143332484 0.00714
NM_201384.3(PLEC):c.4635G>A (p.Ala1545=) rs76426116 0.00714
NM_001276270.2(MBD4):c.1073T>C (p.Ile358Thr) rs2307298 0.00713
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_001127222.2(CACNA1A):c.7431C>T (p.Tyr2477=) rs16059 0.00712
NM_001848.3(COL6A1):c.1823-8G>A rs184666690 0.00711
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe) rs117125761 0.00708
NM_001267550.2(TTN):c.50551+20C>T rs67636125 0.00708
NM_020812.4(DOCK6):c.1833-8T>A rs7252321 0.00708
NM_201378.4(PLEC):c.71-11718C>T rs190222339 0.00708
NM_201384.3(PLEC):c.9435C>T (p.Asp3145=) rs60091617 0.00708
NM_002180.3(IGHMBP2):c.2782G>A (p.Glu928Lys) rs2275996 0.00707
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp) rs3218772 0.00706
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085 0.00705
NM_022173.4(TIA1):c.953A>G (p.Gln318Arg) rs115611153 0.00704
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) rs114363936 0.00703
NM_001379110.1(SLC9A6):c.1662-4G>A rs188072063 0.00703
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu) rs17452588 0.00701
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser) rs3827522 0.00701
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_213599.3(ANO5):c.1545A>G (p.Ser515=) rs35843353 0.00699
NM_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_001555.5(IGSF1):c.2939T>C (p.Val980Ala) rs147496468 0.00694
NM_001927.4(DES):c.735+20C>T rs151226355 0.00694
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165 0.00694
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=) rs16866423 0.00691
NM_014363.6(SACS):c.8127A>C (p.Lys2709Asn) rs78827970 0.00691
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln) rs61757217 0.00689
NM_003737.4(DCHS1):c.6479C>T (p.Thr2160Ile) rs113091644 0.00689
NM_177438.3(DICER1):c.4206+17del rs746189044 0.00689
NM_016373.4(WWOX):c.754C>G (p.Pro252Ala) rs75559202 0.00684
NM_001267550.2(TTN):c.45083-10A>G rs72677222 0.00683
NM_001846.4(COL4A2):c.1011G>A (p.Lys337=) rs147765396 0.00683
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008 0.00681
NM_021008.4(DEAF1):c.1634C>G (p.Ala545Gly) rs34114147 0.00680
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422 0.00680
NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu) rs114472821 0.00679
NM_021098.3(CACNA1H):c.1513C>T (p.Arg505Cys) rs60414549 0.00678
NM_031935.3(HMCN1):c.6029-4T>C rs10911803 0.00676
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_000306.4(POU1F1):c.666-5G>A rs76296626 0.00674
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265 0.00674
NM_201384.3(PLEC):c.11940C>T (p.Ile3980=) rs148865812 0.00674
NM_001164508.2(NEB):c.6069G>A (p.Met2023Ile) rs184262608 0.00672
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044 0.00672
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys) rs535143891 0.00670
NM_005529.7(HSPG2):c.7296A>T (p.Ala2432=) rs2229485 0.00669
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met) rs2230896 0.00668
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=) rs72648258 0.00667
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) rs72648960 0.00666
NM_173689.7(CRB2):c.137C>T (p.Pro46Leu) rs73571404 0.00665
NM_000208.4(INSR):c.2683-5C>T rs41306363 0.00664
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_000142.5(FGFR3):c.1076-13C>T rs114754024 0.00661
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro) rs4988111 0.00660
NM_000791.4(DHFR):c.-259C>T rs6151597 0.00658
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_001106.4(ACVR2B):c.1075-5C>T rs115155428 0.00657
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) rs2229474 0.00657
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948 0.00656
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585 0.00654
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954 0.00654
NM_153240.5(NPHP3):c.1887+6G>A rs79113972 0.00654
NM_002016.2(FLG):c.10925T>C (p.Ile3642Thr) rs150010190 0.00653
NM_004153.4(ORC1):c.806C>T (p.Ser269Leu) rs61753390 0.00653
NM_006846.4(SPINK5):c.1322G>A (p.Arg441His) rs34393923 0.00653
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala) rs104894963 0.00650
NM_018714.3(COG1):c.1049C>T (p.Thr350Met) rs117344829 0.00650
NM_003738.5(PTCH2):c.1080G>T (p.Val360=) rs11573579 0.00649
NM_001278064.2(GRM1):c.3214C>G (p.Pro1072Ala) rs146753539 0.00646
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser) rs34135067 0.00646
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242 0.00646
NM_006059.4(LAMC3):c.146A>G (p.Gln49Arg) rs201962705 0.00645
NM_020812.4(DOCK6):c.4933G>A (p.Val1645Ile) rs34853494 0.00645
NM_001029896.2(WDR45):c.838G>A (p.Val280Met) rs149509552 0.00644
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937 0.00644
NM_001845.6(COL4A1):c.1121-18G>A rs139885514 0.00644
NM_001849.4(COL6A2):c.2856G>A (p.Thr952=) rs138074469 0.00644
NM_031935.3(HMCN1):c.8815G>A (p.Gly2939Ser) rs74967568 0.00644
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043 0.00642
NM_004628.5(XPC):c.860T>G (p.Phe287Cys) rs35629274 0.00642
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys) rs28626194 0.00641
NM_002470.4(MYH3):c.3592G>A (p.Ala1198Thr) rs61735358 0.00641
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00640
NM_001367233.3(HEPH):c.1696G>A (p.Gly566Ser) rs35835670 0.00640
NM_012280.4(FTSJ1):c.307C>G (p.Gln103Glu) rs78979358 0.00639
NM_001009944.3(PKD1):c.4071G>T (p.Leu1357=) rs145737766 0.00637
NM_053025.4(MYLK):c.2101G>A (p.Ala701Thr) rs142835596 0.00637
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_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_000489.6(ATRX):c.1633C>G (p.Gln545Glu) rs35738915 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_017668.3(NDE1):c.948-6839G>A rs183176702 0.00636
NM_001165963.4(SCN1A):c.384-20G>C rs192956852 0.00635
NM_133379.5(TTN):c.16508G>C (p.Ser5503Thr) rs16866489 0.00635
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly) rs146983095 0.00634
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988 0.00633
NM_003332.4(TYROBP):c.94+10G>C rs55746266 0.00630
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_004006.3(DMD):c.3787-18T>C rs72468656 0.00621
NM_000071.3(CBS):c.1145+7C>T rs201158177 0.00620
NM_001009944.3(PKD1):c.8964G>A (p.Ala2988=) rs76184385 0.00619
NM_003839.4(TNFRSF11A):c.1519G>A (p.Ala507Thr) rs61751992 0.00618
NM_004366.6(CLCN2):c.143C>G (p.Pro48Arg) rs115661422 0.00618
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) rs138407503 0.00618
NM_201384.3(PLEC):c.13110C>T (p.Ala4370=) rs187810163 0.00617
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420 0.00615
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=) rs56181243 0.00615
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509 0.00615
NM_000081.4(LYST):c.10941-7C>A rs72761794 0.00614
NM_001197104.2(KMT2A):c.1504G>A (p.Glu502Lys) rs9332772 0.00614
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00613
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe) rs34618570 0.00613
NM_004369.4(COL6A3):c.4285+9G>A rs75780727 0.00613
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys) rs12720445 0.00612
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr) rs62625033 0.00610
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_000516.7(GNAS):c.384G>A (p.Val128=) rs3730166 0.00609
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_030957.4(ADAMTS10):c.2403+4A>G rs187565033 0.00608
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) rs113671330 0.00608
NM_000540.3(RYR1):c.573C>T (p.Asp191=) rs892054 0.00607
NM_019066.5(MAGEL2):c.1038G>C (p.Arg346Ser) rs115892604 0.00605
NM_020717.5(SHROOM4):c.3415dup (p.Glu1139fs) rs587780460 0.00605
NM_001289104.2(PRKCSH):c.351-5C>T rs76485217 0.00604
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val) rs184420466 0.00604
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_024741.3(ZNF408):c.52+36G>C rs111794632 0.00603
NM_201384.3(PLEC):c.2961C>T (p.Ser987=) rs149932255 0.00603
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501 0.00602
NM_058246.4(DNAJB6):c.899-6C>T rs78337193 0.00601
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441 0.00600
NM_001267550.2(TTN):c.45350-13T>C rs113084617 0.00600
NM_000051.4(ATM):c.4042T>C (p.Leu1348=) rs56355831 0.00599
NM_001142864.4(PIEZO1):c.7505A>G (p.Lys2502Arg) rs34830861 0.00599
NM_001378183.1(PIEZO2):c.3730G>A (p.Val1244Met) rs73946020 0.00599
NM_006662.3(SRCAP):c.4603C>G (p.Pro1535Ala) rs117804715 0.00599
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr) rs114026724 0.00598
NM_175914.5(HNF4A):c.393T>C (p.Asn131=) rs113308087 0.00598
NM_000059.4(BRCA2):c.9257-16T>C rs11571818 0.00597
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_001267550.2(TTN):c.36126A>C (p.Glu12042Asp) rs113231696 0.00597
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605 0.00596
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065 0.00596
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser) rs16866477 0.00593
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) rs61729366 0.00592
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile) rs148355156 0.00591
NM_133379.5(TTN):c.11006A>G (p.Asp3669Gly) rs72647896 0.00591
NM_000693.4(ALDH1A3):c.43A>G (p.Arg15Gly) rs1130737 0.00590
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=) rs115070904 0.00590
NM_002109.6(HARS1):c.14C>A (p.Ala5Glu) rs78741041 0.00588
NM_001372044.2(SHANK3):c.2535G>A (p.Pro845=) rs117066889 0.00587
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250 0.00587
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser) rs76537615 0.00586
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338 0.00584
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00583
NM_000516.7(GNAS):c.366C>T (p.Pro122=) rs35287986 0.00583
NM_007356.3(LAMB4):c.350G>C (p.Arg117Thr) rs149874137 0.00583
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro) rs28730852 0.00579
NM_003737.4(DCHS1):c.596C>G (p.Pro199Arg) rs114142691 0.00579
NM_017780.4(CHD7):c.5051-4C>T rs71640288 0.00577
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_001556.3(IKBKB):c.2028G>A (p.Met676Ile) rs78448523 0.00575
NM_015268.4(DNAJC13):c.2369C>A (p.Ser790Tyr) rs149121829 0.00575
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00575
NM_006031.6(PCNT):c.8752-5A>C rs149444205 0.00573
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_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582 0.00570
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406 0.00570
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975 0.00570
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu) rs17216663 0.00569
NM_014822.4(SEC24D):c.578C>T (p.Pro193Leu) rs6844109 0.00569
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg) rs34132016 0.00569
NM_000051.4(ATM):c.186-7C>T rs55674039 0.00568
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445 0.00566
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_153252.5(BRWD3):c.2325+5G>A rs186391561 0.00565
NM_001142864.4(PIEZO1):c.4495+4C>T rs140520334 0.00562
NM_133379.5(TTN):c.13936A>G (p.Lys4646Glu) rs140909116 0.00562
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_012200.4(B3GAT3):c.821C>A (p.Thr274Asn) rs112223093 0.00560
NM_000296.4(PKD1):c.11534+3_11534+5dup rs201204878 0.00559
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408 0.00559
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147 0.00558
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met) rs35256065 0.00558
NM_021098.3(CACNA1H):c.5324-4G>A rs57687113 0.00558
NM_000426.4(LAMA2):c.4437-5T>A rs41285288 0.00557
NM_138295.5(PKD1L1):c.5467G>A (p.Asp1823Asn) rs116988549 0.00557
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe) rs147122501 0.00554
NM_001109809.5(ZFP57):c.1086T>C (p.Thr362=) rs61730326 0.00553
NM_001109809.5(ZFP57):c.783C>T (p.Cys261=) rs61730328 0.00553
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00553
NM_003922.4(HERC1):c.4714T>G (p.Ser1572Ala) rs16947363 0.00553
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843 0.00552
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866 0.00549
NM_001365308.1(BMPER):c.1663C>T (p.Arg555Trp) rs10249320 0.00549
NM_001942.4(DSG1):c.2914G>A (p.Gly972Ser) rs1042755 0.00549
NM_004369.4(COL6A3):c.4107C>T (p.Ile1369=) rs35114079 0.00549
NM_001130823.3(DNMT1):c.2382-4C>T rs74505694 0.00548
NM_001371623.1(TCOF1):c.2762C>T (p.Pro921Leu) rs150515843 0.00548
NM_000426.4(LAMA2):c.4470C>T (p.Asp1490=) rs35089085 0.00547
NM_001845.6(COL4A1):c.393G>A (p.Glu131=) rs34458255 0.00546
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=) rs72650003 0.00545
NM_001291303.3(FAT4):c.6219A>G (p.Gln2073=) rs35355603 0.00545
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) rs57474185 0.00543
NM_015631.6(TCTN3):c.630T>C (p.Ala210=) rs41299157 0.00543
NM_001159699.2(FHL1):c.204+5C>T rs182106777 0.00542
NM_058174.3(COL6A2):c.2649C>T (p.Phe883=) rs149172490 0.00540
NM_000266.4(NDP):c.69C>G (p.Asp23Glu) rs5952410 0.00538
NM_004247.4(EFTUD2):c.1058+3_1058+7del rs536749831 0.00538
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly) rs74897360 0.00538
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys) rs181067717 0.00536
NM_001142864.4(PIEZO1):c.7041C>T (p.Asp2347=) rs34352064 0.00535
NM_001267550.2(TTN):c.42024+6T>C rs140002940 0.00535
NM_001267550.2(TTN):c.39709+6C>T rs72650067 0.00533
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys) rs149814240 0.00533
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_007137.5(ZNF81):c.470A>G (p.Asn157Ser) rs41312157 0.00531
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891 0.00530
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572 0.00529
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=) rs75248449 0.00528
NM_001384732.1(CPLANE1):c.5329G>A (p.Val1777Ile) rs142777778 0.00526
NM_003737.4(DCHS1):c.8599G>A (p.Ala2867Thr) rs146233988 0.00526
NM_015662.3(IFT172):c.3401G>T (p.Arg1134Leu) rs148624326 0.00526
NM_001286577.2(C2CD3):c.3695A>G (p.Asn1232Ser) rs140307393 0.00525
NM_000436.4(OXCT1):c.112C>T (p.Arg38Cys) rs76956231 0.00520
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237 0.00519
NM_001845.6(COL4A1):c.4203C>T (p.Asp1401=) rs141714960 0.00519
NM_019066.5(MAGEL2):c.2633C>T (p.Pro878Leu) rs2233067 0.00519
NM_001369268.1(ACAN):c.4120G>A (p.Gly1374Arg) rs201302102 0.00518
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_001555.5(IGSF1):c.2132G>C (p.Gly711Ala) rs146715796 0.00517
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859 0.00517
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His) rs56044609 0.00516
NM_173660.5(DOK7):c.1204C>T (p.Arg402Trp) rs149905649 0.00516
NM_000210.4(ITGA6):c.2728G>A (p.Asp910Asn) rs61737182 0.00515
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu) rs115913736 0.00515
NM_000540.3(RYR1):c.10938-17A>G rs181147531 0.00513
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_201384.3(PLEC):c.3351C>T (p.Ala1117=) rs145376880 0.00513
NM_001009944.3(PKD1):c.5682C>T (p.Ala1894=) rs144634185 0.00512
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_005633.4(SOS1):c.2167+6T>G rs186640807 0.00510
NM_144508.5(KNL1):c.2014A>C (p.Ile672Leu) rs73394756 0.00510
NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr) rs148164067 0.00508
NM_003072.5(SMARCA4):c.2388C>T (p.Leu796=) rs28997580 0.00508
NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln) rs117566084 0.00508
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser) rs74315394 0.00508
NM_001009944.3(PKD1):c.8439C>T (p.Ser2813=) rs117856830 0.00507
NM_000052.7(ATP7A):c.610+8G>A rs144616937 0.00506
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_005263.5(GFI1):c.1198C>T (p.Leu400Phe) rs143708376 0.00505
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525 0.00505
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_004369.4(COL6A3):c.1471G>C (p.Asp491His) rs112010940 0.00503
NM_004369.4(COL6A3):c.1475C>G (p.Thr492Ser) rs113897824 0.00503
NM_006267.5(RANBP2):c.7849+4A>G rs2949961 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_015158.5(KANK1):c.3553+5G>A rs114914725 0.00501
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130 0.00500
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816 0.00500
NM_020376.4(PNPLA2):c.919+4C>T rs148314086 0.00500
NM_000843.4(GRM6):c.2092C>G (p.Leu698Val) rs62638623 0.00498
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164 0.00498
NM_001040108.2(MLH3):c.3987+15C>T rs117251698 0.00496
NM_006915.3(RP2):c.260C>T (p.Thr87Ile) rs147783915 0.00496
NM_000070.3(CAPN3):c.318C>T (p.Cys106=) rs117609395 0.00495
NM_000251.3(MSH2):c.984C>T (p.Ala328=) rs4987189 0.00495
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile) rs61752970 0.00495
NM_001288705.3(CSF1R):c.282C>T (p.Ser94=) rs41287102 0.00495
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666 0.00495
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984 0.00493
NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala) rs75831573 0.00493
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_001846.4(COL4A2):c.3634+13G>A rs188658233 0.00491
NM_002578.5(PAK3):c.276+2659T>C rs142890115 0.00491
NM_002661.5(PLCG2):c.1565C>G (p.Pro522Arg) rs72824905 0.00491
NM_012073.5(CCT5):c.1086C>G (p.Ile362Met) rs141675330 0.00491
NM_001369268.1(ACAN):c.1366T>C (p.Phe456Leu) rs181736584 0.00490
NM_024105.4(ALG12):c.631C>T (p.Arg211Cys) rs144665682 0.00490
NM_004208.4(AIFM1):c.103C>T (p.Pro35Ser) rs61730896 0.00489
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_017849.4(TMEM127):c.409+7C>T rs189327749 0.00487
NM_002691.4(POLD1):c.1275C>T (p.Ala425=) rs3219392 0.00486
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
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_002775.5(HTRA1):c.337G>T (p.Ala113Ser) rs140088745 0.00485
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His) rs41266761 0.00484
NM_018112.3(TMEM38B):c.113-7A>G rs186864213 0.00484
NM_001308093.3(GATA4):c.1150-20G>A rs114345849 0.00483
NM_001378778.1(MPDZ):c.2458C>G (p.Leu820Val) rs73647114 0.00482
NM_004369.4(COL6A3):c.7928C>T (p.Ala2643Val) rs111595697 0.00482
NM_000071.3(CBS):c.531+11G>A rs186114513 0.00479
NM_001312909.2(FAM111A):c.782_791dup (p.Phe264fs) rs533676902 0.00478
NM_001378183.1(PIEZO2):c.6530G>C (p.Arg2177Thr) rs79992793 0.00478
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=) rs12721379 0.00478
NM_024408.4(NOTCH2):c.3980A>G (p.Asp1327Gly) rs61752484 0.00477
NM_000203.5(IDUA):c.709C>T (p.Leu237Phe) rs74385837 0.00475
NM_001374828.1(ARID1B):c.985G>A (p.Gly329Ser) rs375160616 0.00475
NM_133459.4(CCBE1):c.195G>A (p.Glu65=) rs116673304 0.00475
NM_145046.5(CALR3):c.850G>A (p.Asp284Asn) rs10404156 0.00473
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_001012339.3(DNAJC21):c.1024G>A (p.Val342Met) rs144600070 0.00471
NM_001258392.3(CLPB):c.2026A>G (p.Thr676Ala) rs112524097 0.00471
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_003923.3(FOXH1):c.338G>C (p.Ser113Thr) rs144830740 0.00471
NM_015662.3(IFT172):c.1685C>G (p.Thr562Ser) rs61743977 0.00470
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile) rs115800498 0.00470
NM_031418.4(ANO3):c.164C>T (p.Ser55Phe) rs61746297 0.00470
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu) rs62272670 0.00470
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=) rs72646857 0.00468
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049 0.00467
NM_004525.3(LRP2):c.3659C>T (p.Ala1220Val) rs144723964 0.00467
NM_001199198.3(TBC1D23):c.92G>C (p.Cys31Ser) rs62636640 0.00466
NM_001267550.2(TTN):c.33742+11A>G rs72650042 0.00463
NM_030957.4(ADAMTS10):c.2157C>G (p.Ala719=) rs150468696 0.00463
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val) rs72650029 0.00461
NM_001277115.2(DNAH11):c.4501-7A>T rs62447794 0.00461
NM_003000.3(SDHB):c.24C>T (p.Ser8=) rs148738139 0.00461
NM_000243.3(MEFV):c.1760-4G>A rs79662406 0.00459
NM_017739.4(POMGNT1):c.120+13C>T rs12737140 0.00459
NM_022552.5(DNMT3A):c.89A>C (p.Glu30Ala) rs143730975 0.00459
NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys) rs201487340 0.00458
NM_012186.3(FOXE3):c.587G>C (p.Gly196Ala) rs281865461 0.00458
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140 0.00457
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=) rs150865922 0.00456
NM_001348716.2(KDM6B):c.625G>T (p.Val209Leu) rs148641957 0.00454
NM_001853.4(COL9A3):c.209C>T (p.Pro70Leu) rs143307835 0.00454
NM_052989.3(IFT122):c.1273C>T (p.Arg425Trp) rs61744639 0.00451
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
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_001164508.2(NEB):c.18693G>C (p.Ala6231=) rs141338915 0.00448
NM_020812.4(DOCK6):c.434G>A (p.Arg145Gln) rs140883567 0.00446
NM_053274.3(GLMN):c.436G>A (p.Ala146Thr) rs61754623 0.00445
NM_001142864.4(PIEZO1):c.2865G>A (p.Gln955=) rs35597347 0.00444
NM_001122681.2(SH3BP2):c.464C>T (p.Ala155Val) rs35313240 0.00443
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_000081.4(LYST):c.10800+4G>T rs41308172 0.00441
NM_000493.4(COL10A1):c.150T>A (p.Ser50Arg) rs142411445 0.00438
NM_004369.4(COL6A3):c.4895G>A (p.Arg1632Gln) rs111231885 0.00438
NM_001164508.2(NEB):c.12667G>A (p.Ala4223Thr) rs12998234 0.00437
NM_014915.3(ANKRD26):c.4445T>C (p.Ile1482Thr) rs80097260 0.00437
NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser) rs138628273 0.00437
NM_000317.3(PTS):c.315-3T>C rs189365250 0.00436
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 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_203290.4(POLR1C):c.634A>G (p.Met212Val) rs79222964 0.00431
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=) rs182847302 0.00430
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921 0.00430
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His) rs35851478 0.00429
NM_001288705.3(CSF1R):c.1626+13G>A rs115895865 0.00429
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly) rs58093963 0.00429
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser) rs75145370 0.00429
NM_001379451.1(BCORL1):c.783G>A (p.Ala261=) rs61752973 0.00428
NM_004970.3(IGFALS):c.860C>T (p.Pro287Leu) rs35706152 0.00428
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886 0.00427
NM_004260.4(RECQL4):c.1090G>A (p.Val364Met) rs144637135 0.00427
NM_006129.5(BMP1):c.1112G>A (p.Arg371His) rs145284541 0.00427
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_201384.3(PLEC):c.4366G>A (p.Val1456Met) rs186848953 0.00427
NM_001174147.2(LMX1B):c.886+28G>A rs150656317 0.00426
NM_004525.3(LRP2):c.9613A>G (p.Asn3205Asp) rs35734447 0.00426
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg) rs141088838 0.00423
NM_031885.5(BBS2):c.805-20A>G rs41280892 0.00423
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524 0.00422
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=) rs28763931 0.00422
NM_153252.5(BRWD3):c.33G>A (p.Glu11=) rs139071237 0.00422
NM_000382.3(ALDH3A2):c.28C>G (p.Gln10Glu) rs72547554 0.00421
NM_015631.6(TCTN3):c.224C>T (p.Ala75Val) rs41291570 0.00421
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_000789.4(ACE):c.2747C>T (p.Thr916Met) rs3730043 0.00420
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_030957.4(ADAMTS10):c.217G>A (p.Glu73Lys) rs61750006 0.00419
NM_006267.5(RANBP2):c.2339C>T (p.Pro780Leu) rs61758802 0.00418
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=) rs78795178 0.00417
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala) rs147756847 0.00416
NM_000208.4(INSR):c.870C>T (p.His290=) rs74483718 0.00416
NM_144508.5(KNL1):c.451A>G (p.Met151Val) rs35146555 0.00416
NM_002471.4(MYH6):c.622G>A (p.Asp208Asn) rs142027794 0.00415
NM_000426.4(LAMA2):c.3556-15T>G rs17741922 0.00414
NM_001369.3(DNAH5):c.2253C>A (p.Asn751Lys) rs115004914 0.00414
NM_001458.5(FLNC):c.1902G>A (p.Glu634=) rs12536635 0.00414
NM_002454.3(MTRR):c.1468A>G (p.Thr490Ala) rs41283145 0.00414
NM_018122.5(DARS2):c.1642C>A (p.Leu548Met) rs149660059 0.00412
NM_000383.4(AIRE):c.548C>A (p.Thr183Asn) rs34219046 0.00411
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_001364171.2(ODAD1):c.856G>A (p.Gly286Arg) rs73942222 0.00411
NM_020812.4(DOCK6):c.4205C>T (p.Thr1402Met) rs147554257 0.00411
NM_001099274.3(TINF2):c.1092G>A (p.Leu364=) rs184422577 0.00410
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988 0.00410
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268 0.00408
NM_004006.3(DMD):c.7542+13A>G rs72466585 0.00407
NM_007137.5(ZNF81):c.1495A>G (p.Ile499Val) rs182239885 0.00407
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297 0.00407
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_020964.3(EPG5):c.4039A>C (p.Asn1347His) rs144860976 0.00405
NM_144508.5(KNL1):c.6034A>G (p.Ile2012Val) rs74970544 0.00405
NM_000540.3(RYR1):c.1923C>G (p.Thr641=) rs116591968 0.00404
NM_004608.4(TBX6):c.484G>A (p.Gly162Ser) rs56098093 0.00404
NM_004840.3(ARHGEF6):c.362G>A (p.Arg121His) rs35106300 0.00404
NM_006218.4(PIK3CA):c.2298T>G (p.Leu766=) rs116164892 0.00404
NM_201384.3(PLEC):c.7074G>A (p.Ala2358=) rs146381488 0.00404
NM_001458.5(FLNC):c.1549+15C>A rs181134489 0.00403
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met) rs138108344 0.00403
NM_004924.6(ACTN4):c.2401G>A (p.Val801Met) rs141727248 0.00403
NM_005634.3(SOX3):c.157G>C (p.Val53Leu) rs200361128 0.00403
NM_133379.5(TTN):c.13863G>A (p.Met4621Ile) rs77419653 0.00403
NM_201384.3(PLEC):c.3682C>T (p.Arg1228Trp) rs144610086 0.00403
NM_201384.3(PLEC):c.5304G>A (p.Leu1768=) rs186670912 0.00400
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249 0.00399
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_001267550.2(TTN):c.15850G>A (p.Val5284Met) rs66839174 0.00398
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033 0.00397
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513 0.00396
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988 0.00396
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val) rs7587103 0.00394
NM_004655.4(AXIN2):c.1410C>T (p.His470=) rs149483825 0.00394
NM_004369.4(COL6A3):c.4285+17G>A rs3791000 0.00392
NM_001378452.1(ITPR1):c.1480G>A (p.Val494Ile) rs41289628 0.00391
NM_001099922.3(ALG13):c.2672C>T (p.Ser891Phe) rs200066623 0.00390
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432 0.00389
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200 0.00389
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg) rs187695569 0.00389
NM_001853.4(COL9A3):c.410T>C (p.Leu137Pro) rs147947060 0.00389
NM_006005.3(WFS1):c.917T>C (p.Met306Thr) rs146114074 0.00389
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129 0.00388
NM_022041.4(GAN):c.1684C>G (p.Pro562Ala) rs79901179 0.00388
NM_080425.4(GNAS):c.1455C>A (p.Ala485=) rs55890501 0.00388
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185 0.00386
NM_001372044.2:c.1116C>T (p.Ser372=) rs201282170 0.00386
NM_030632.3(ASXL3):c.1116C>T (p.Leu372=) rs117356074 0.00386
NM_001374828.1(ARID1B):c.3235+6C>T rs148976215 0.00384
NM_001807.6(CEL):c.1828T>G (p.Ser610Ala) rs1252154279 0.00382
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr) rs77357563 0.00382
NM_001371986.1(UNC80):c.1620C>G (p.Ser540=) rs182186415 0.00381
NM_006790.3(MYOT):c.1008G>T (p.Val336=) rs142828368 0.00381
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764 0.00379
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601 0.00379
NM_014008.5(CCDC22):c.1163G>A (p.Arg388His) rs113045747 0.00379
NM_182961.4(SYNE1):c.6135T>G (p.Ile2045Met) rs116600265 0.00379
NM_000875.5(IGF1R):c.1950G>T (p.Arg650=) rs56294552 0.00378
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272 0.00377
NM_013275.6(ANKRD11):c.5509C>T (p.Pro1837Ser) rs145906515 0.00377
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_001190417.2(ZNF674):c.586C>T (p.Arg196Ter) rs182004761 0.00376
NM_000327.4(ROM1):c.686G>A (p.Arg229His) rs150168119 0.00375
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282 0.00375
NM_001614.5(ACTG1):c.-6-3C>T rs140724578 0.00374
NM_183235.3(RAB27A):c.594G>A (p.Val198=) rs141222527 0.00374
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388 0.00372
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) rs146458524 0.00372
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116 0.00372
NM_001286577.2(C2CD3):c.704C>T (p.Pro235Leu) rs149910292 0.00372
NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg) rs141756032 0.00371
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464 0.00371
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_000302.4(PLOD1):c.802A>G (p.Thr268Ala) rs74354225 0.00370
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr) rs201593811 0.00370
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) rs143037290 0.00369
NM_025137.4(SPG11):c.2656T>C (p.Tyr886His) rs139687202 0.00369
NM_001015880.2(PAPSS2):c.375C>T (p.Phe125=) rs145230931 0.00368
NM_000435.3(NOTCH3):c.3719-11C>T rs78907190 0.00367
NM_006005.3(WFS1):c.225C>T (p.Asp75=) rs35216268 0.00366
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111 0.00365
NM_005267.5(GJA8):c.741T>G (p.Ile247Met) rs80358202 0.00365
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613 0.00365
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=) rs141557400 0.00364
NM_004656.4(BAP1):c.1729+8T>C rs150945583 0.00364
NM_000051.4(ATM):c.5497-15G>C rs3092828 0.00363
NM_000760.4(CSF3R):c.1319G>A (p.Arg440Gln) rs3918020 0.00363
NM_001999.4(FBN2):c.6511+5G>A rs200608284 0.00363
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00362
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_001267550.2(TTN):c.34474C>A (p.Pro11492Thr) rs182428755 0.00362
NM_005257.6(GATA6):c.1602A>G (p.Thr534=) rs146949786 0.00362
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208 0.00361
NM_001383.6(DPH1):c.731C>G (p.Pro244Arg) rs80150196 0.00361
NM_015662.3(IFT172):c.4540-6C>T rs146140583 0.00361
NM_001372044.2(SHANK3):c.2028G>A (p.Thr676=) rs73892912 0.00360
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923 0.00359
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_003238.6(TGFB2):c.1239C>T (p.Cys413=) rs141225367 0.00359
NM_004318.4(ASPH):c.844C>T (p.Pro282Ser) rs141197241 0.00359
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820 0.00358
NM_198252.3(GSN):c.1288C>T (p.Arg430Cys) rs116185403 0.00357
NM_001555.5(IGSF1):c.3228G>C (p.Met1076Ile) rs145402054 0.00356
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004 0.00356
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg) rs148509395 0.00356
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944 0.00355
NM_025074.7(FRAS1):c.11227A>G (p.Ile3743Val) rs35370270 0.00355
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719 0.00354
NM_133433.4(NIPBL):c.6109-3T>C rs145778995 0.00354
NM_001101.5(ACTB):c.426G>T (p.Leu142=) rs79074016 0.00353
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956 0.00353
NM_001288705.3(CSF1R):c.2841T>C (p.Ser947=) rs148054244 0.00353
NM_004369.4(COL6A3):c.3087C>T (p.Asp1029=) rs113066678 0.00353
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val) rs41313697 0.00352
NM_001143992.2(WRAP53):c.823-10C>T rs117192546 0.00352
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_001243133.2(NLRP3):c.397+7G>A rs192297357 0.00350
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=) rs145955373 0.00349
NM_001130987.2(DYSF):c.2817G>A (p.Ser939=) rs148902254 0.00349
NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp) rs28910273 0.00349
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_000484.4(APP):c.2124C>T (p.Gly708=) rs148888161 0.00348
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858 0.00348
NM_001098816.3(TENM4):c.2804C>G (p.Pro935Arg) rs141706152 0.00347
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys) rs144983062 0.00347
NM_003334.4(UBA1):c.1702C>G (p.Leu568Val) rs150574055 0.00347
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser) rs149073355 0.00347
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991 0.00346
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00346
NM_014208.3(DSPP):c.1060C>T (p.Arg354Cys) rs61731011 0.00345
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_182943.3(PLOD2):c.652A>G (p.Ile218Val) rs145809663 0.00344
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser) rs145110602 0.00343
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116 0.00343
NM_013382.7(POMT2):c.2148-18A>G rs138488805 0.00343
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972 0.00343
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_001291303.3(FAT4):c.3658T>A (p.Ser1220Thr) rs181368820 0.00342
NM_004525.3(LRP2):c.149C>G (p.Thr50Ser) rs114460450 0.00342
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_001793.6(CDH3):c.805A>C (p.Met269Leu) rs36038900 0.00341
NM_002661.5(PLCG2):c.1444T>C (p.Tyr482His) rs187956469 0.00341
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly) rs113593896 0.00341
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674 0.00340
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508 0.00338
NM_004958.4(MTOR):c.7455C>T (p.Asp2485=) rs41274506 0.00338
NM_001330677.2(TBX15):c.522A>G (p.Arg174=) rs61730014 0.00337
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) rs139600783 0.00337
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=) rs118126378 0.00334
NM_001267550.2(TTN):c.10114+5G>A rs115985443 0.00334
NM_014008.5(CCDC22):c.536-7C>T rs191605685 0.00334
NM_198407.2(GHSR):c.531C>A (p.Pro177=) rs4988509 0.00334
NM_004484.4(GPC3):c.1285G>A (p.Val429Met) rs11539789 0.00333
NM_133379.5(TTN):c.11741C>G (p.Thr3914Arg) rs116593093 0.00333
NM_000142.5(FGFR3):c.1535-8G>T rs111460786 0.00332
NM_000285.4(PEPD):c.1294G>A (p.Ala432Thr) rs149042427 0.00332
NM_133379.5(TTN):c.12067G>A (p.Gly4023Arg) rs143253411 0.00332
NM_001080414.4(CCDC88C):c.4265C>T (p.Ser1422Leu) rs202217944 0.00330
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=) rs112387277 0.00329
NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=) rs116900568 0.00329
NM_000142.5(FGFR3):c.1014C>T (p.Thr338=) rs4647928 0.00328
NM_001378414.1(HDAC4):c.958G>A (p.Val320Ile) rs73000144 0.00328
NM_012082.4(ZFPM2):c.2287G>A (p.Val763Ile) rs117908591 0.00328
NM_000687.4(AHCY):c.274A>G (p.Ile92Val) rs11552695 0.00327
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187 0.00327
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys) rs34102501 0.00327
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) rs143669458 0.00326
NM_201384.3(PLEC):c.10759C>T (p.Leu3587=) rs200006106 0.00326
NM_201384.3(PLEC):c.5476C>T (p.Arg1826Trp) rs200575795 0.00326
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=) rs140781855 0.00325
NM_001099922.3(ALG13):c.2248-4A>G rs370438099 0.00325
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val) rs41561818 0.00325
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp) rs143690392 0.00324
NM_001040108.2(MLH3):c.3315C>A (p.Asp1105Glu) rs28757008 0.00323
NM_001080414.4(CCDC88C):c.891+8G>A rs11851272 0.00323
NM_001606.5(ABCA2):c.5134G>A (p.Gly1712Ser) rs149871834 0.00323
NM_002521.3(NPPB):c.280G>T (p.Val94Phe) rs35640285 0.00323
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000032.5(ALAS2):c.-15-1790G>A rs189947718 0.00322
NM_001005498.4(RHBDF2):c.1495G>T (p.Asp499Tyr) rs11553545 0.00322
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_201384.3(PLEC):c.7267G>A (p.Ala2423Thr) rs193257576 0.00321
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756 0.00320
NM_001001344.3(ATP2B3):c.3518C>T (p.Ala1173Val) rs149428057 0.00320
NM_021939.4(FKBP10):c.1307T>C (p.Ile436Thr) rs61749879 0.00320
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val) rs140951974 0.00320
NM_006121.4(KRT1):c.592-8G>A rs147622831 0.00319
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134 0.00318
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804 0.00317
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro) rs72650032 0.00317
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754 0.00317
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile) rs141624266 0.00316
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_020921.4(NIN):c.3197T>A (p.Val1066Asp) rs78280523 0.00316
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688 0.00315
NM_001267550.2(TTN):c.25921+20G>A rs148460010 0.00315
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764 0.00315
NM_001845.6(COL4A1):c.4755+18C>T rs191620431 0.00315
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His) rs75120695 0.00315
NM_000726.5(CACNB4):c.599-15G>A rs41270209 0.00314
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe) rs145403829 0.00314
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln) rs76646638 0.00314
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_001372106.1(DNAH10):c.11213C>T (p.Thr3738Ile) rs202063832 0.00313
NM_004260.4(RECQL4):c.3337G>C (p.Gly1113Arg) rs35101495 0.00313
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met) rs143543800 0.00313
NM_001009944.3(PKD1):c.12436G>A (p.Val4146Ile) rs148478410 0.00312
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598 0.00312
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_024675.4(PALB2):c.1572A>G (p.Ser524=) rs45472400 0.00312
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_000553.6(WRN):c.95A>G (p.Lys32Arg) rs34477820 0.00310
NM_001848.3(COL6A1):c.1182+3G>A rs62215499 0.00310
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_000371.4(TTR):c.336+19G>A rs75517067 0.00309
NM_001378778.1(MPDZ):c.1041G>C (p.Leu347Phe) rs34911705 0.00309
NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly) rs34644609 0.00309
NM_024675.4(PALB2):c.1419A>C (p.Pro473=) rs62625275 0.00309
NM_032861.4(SERAC1):c.62C>T (p.Pro21Leu) rs147194699 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_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380 0.00307
NM_000435.3(NOTCH3):c.2202C>T (p.Ala734=) rs140040122 0.00306
NM_001555.5(IGSF1):c.1247-8G>C rs184648797 0.00306
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_002775.5(HTRA1):c.1221C>T (p.Asp407=) rs11538140 0.00305
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_004656.4(BAP1):c.1026C>T (p.Ser342=) rs71651686 0.00304
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln) rs188101277 0.00303
NM_004484.4(GPC3):c.1167-8T>C rs182950534 0.00303
NM_006218.4(PIK3CA):c.1143C>G (p.Pro381=) rs72561481 0.00303
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) rs142813109 0.00303
NM_144773.4(PROKR2):c.151G>A (p.Ala51Thr) rs144994507 0.00303
NM_001189.4(NKX3-2):c.323C>G (p.Ala108Gly) rs202191746 0.00302
NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val) rs149011965 0.00302
NM_198252.3(GSN):c.243C>T (p.Thr81=) rs116956127 0.00302
NM_001267550.2(TTN):c.30426C>T (p.Asp10142=) rs147524531 0.00301
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925 0.00301
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_201384.3(PLEC):c.4651C>T (p.Arg1551Cys) rs2857824 0.00301
NM_001130823.3(DNMT1):c.891+8C>T rs117294281 0.00299
NM_001848.3(COL6A1):c.2067-10T>C rs200727020 0.00299
NM_004655.4(AXIN2):c.1530G>A (p.Thr510=) rs141014640 0.00299
NM_021098.3(CACNA1H):c.2354A>T (p.Lys785Met) rs28365117 0.00299
NM_025077.4(TOE1):c.-45G>A rs2275602 0.00299
NM_004525.3(LRP2):c.10937G>A (p.Arg3646His) rs142549310 0.00298
NM_003193.5(TBCE):c.214C>T (p.Pro72Ser) rs62620041 0.00297
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116 0.00297
NM_198576.4(AGRN):c.1993G>A (p.Glu665Lys) rs143324306 0.00297
NM_000142.5(FGFR3):c.1076-16G>A rs3135889 0.00296
NM_001324144.2(ZNF41):c.590A>G (p.Lys197Arg) rs148585367 0.00296
NM_002470.4(MYH3):c.2926-8C>T rs188588330 0.00296
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000435.3(NOTCH3):c.2411-4C>G rs190177286 0.00295
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833 0.00295
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr) rs148076109 0.00295
NM_021098.3(CACNA1H):c.5445+4C>T rs147142971 0.00295
NM_001852.4(COL9A2):c.95G>A (p.Arg32Gln) rs200424850 0.00294
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) rs121908601 0.00293
NM_022166.4(XYLT1):c.1154C>T (p.Pro385Leu) rs36098987 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_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_001371623.1(TCOF1):c.1281G>A (p.Ala427=) rs113299143 0.00291
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln) rs145217118 0.00290
NM_001267550.2(TTN):c.69716-5C>G rs72646886 0.00290
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_005861.4(STUB1):c.326G>A (p.Ser109Asn) rs148553428 0.00289
NM_170606.3(KMT2C):c.1173C>A (p.Cys391Ter) rs146238849 0.00289
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575 0.00288
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478 0.00288
NM_001291303.3(FAT4):c.4303A>G (p.Ile1435Val) rs142747281 0.00288
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780 0.00288
NM_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_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926 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_001458.5(FLNC):c.4928-7T>C rs201957008 0.00286
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) rs45630557 0.00285
NM_001378477.3(NYX):c.1229G>A (p.Ser410Asn) rs149170016 0.00285
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) rs61754061 0.00285
NM_024649.5(BBS1):c.831-5C>T rs56177555 0.00285
NM_001205019.2(GK):c.748-5A>T rs186543786 0.00284
NM_001189.4(NKX3-2):c.235A>T (p.Thr79Ser) rs200167000 0.00283
NM_001291415.2(KDM6A):c.1683+3G>A rs61751429 0.00283
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
NM_001039591.3(USP9X):c.6084C>T (p.Pro2028=) rs146661515 0.00282
NM_018341.3(ERMARD):c.1162A>G (p.Asn388Asp) rs151283330 0.00282
NM_000264.5(PTCH1):c.109G>C (p.Gly37Arg) rs199976372 0.00281
NM_003737.4(DCHS1):c.2996G>A (p.Arg999Gln) rs111781030 0.00281
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957 0.00280
NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile) rs34203644 0.00280
NM_002637.4(PHKA1):c.2462G>A (p.Arg821His) rs139803629 0.00280
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349 0.00279
NM_002181.4(IHH):c.315+8C>T rs186249490 0.00278
NM_014994.3(MAPKBP1):c.1156G>A (p.Val386Ile) rs75869993 0.00278
NM_000257.4(MYH7):c.4788G>A (p.Ser1596=) rs146858930 0.00277
NM_001348800.3(ZBTB20):c.1250C>G (p.Ala417Gly) rs149352178 0.00277
NM_012330.4(KAT6B):c.4835G>A (p.Arg1612His) rs72803461 0.00277
NM_000257.4(MYH7):c.2162+4G>A rs145738465 0.00276
NM_004727.3(SLC24A1):c.1859C>T (p.Ala620Val) rs35398714 0.00276
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) rs61737803 0.00275
NM_001171020.2(PWWP3B):c.1001T>C (p.Met334Thr) rs200704905 0.00275
NM_001308093.3(GATA4):c.825C>T (p.Cys275=) rs55980825 0.00275
NM_006218.4(PIK3CA):c.2016-12C>T rs147286696 0.00275
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086 0.00275
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) rs149758808 0.00275
NM_000257.4(MYH7):c.4353+10G>A rs202205780 0.00274
NM_000686.5(AGTR2):c.62G>T (p.Gly21Val) rs121917810 0.00274
NM_000969.5(RPL5):c.3+3G>C rs200628272 0.00274
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu) rs72646840 0.00274
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222 0.00274
NM_006005.3(WFS1):c.2205C>T (p.Tyr735=) rs71530911 0.00274
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=) rs142002333 0.00272
NM_001031725.6(DDX59):c.148G>C (p.Ala50Pro) rs150913822 0.00272
NM_001031725.6(DDX59):c.251G>C (p.Ser84Thr) rs146060105 0.00272
NM_001271696.3(ABCB7):c.938G>A (p.Arg313Gln) rs147584361 0.00272
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu) rs56226109 0.00271
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe) rs142838522 0.00270
NM_002206.3(ITGA7):c.2569G>A (p.Gly857Ser) rs149081471 0.00270
NM_201384.3(PLEC):c.58A>G (p.Ser20Gly) rs183111586 0.00270
NM_001308210.2(TSHZ1):c.1843G>A (p.Ala615Thr) rs149729975 0.00269
NM_006005.3(WFS1):c.1674C>T (p.Arg558=) rs61735402 0.00269
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe) rs148663672 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_005026.5(PIK3CD):c.1809G>C (p.Leu603=) rs151278626 0.00268
NM_001023570.4(IQCB1):c.588T>C (p.Ser196=) rs80015876 0.00267
NM_004369.4(COL6A3):c.2463T>C (p.Ser821=) rs115387170 0.00267
NM_000494.4(COL17A1):c.4304C>T (p.Ala1435Val) rs146841330 0.00265
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943 0.00264
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) rs77144743 0.00264
NM_000557.5(GDF5):c.388G>A (p.Gly130Arg) rs114550865 0.00263
NM_001379500.1(COL18A1):c.1675-6G>A rs142726108 0.00263
NM_001126049.2(KLLN):c.382C>G (p.Arg128Gly) rs201652303 0.00262
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_004958.4(MTOR):c.985G>A (p.Ala329Thr) rs35903812 0.00262
NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln) rs148468628 0.00262
NM_004260.4(RECQL4):c.3435G>C (p.Gln1145His) rs61755066 0.00261
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240 0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_001371623.1(TCOF1):c.295G>A (p.Ala99Thr) rs112332762 0.00260
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val) rs114435947 0.00259
NM_004463.3(FGD1):c.676G>A (p.Ala226Thr) rs138723423 0.00259
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890 0.00258
NM_001288705.3(CSF1R):c.2799T>C (p.Gly933=) rs41287092 0.00258
NM_001429.4(EP300):c.865A>G (p.Met289Val) rs2230111 0.00258
NM_004958.4(MTOR):c.6624T>C (p.Leu2208=) rs56051835 0.00258
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln) rs140756827 0.00258
NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val) rs147223770 0.00258
NM_133379.5(TTN):c.16