ClinVar Miner

Variants from Athena Diagnostics with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Athena Diagnostics: Collection method of the submission from Athena Diagnostics:
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
6026 7328 13 6132 2817 41 513 8513

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
Athena Diagnostics pathogenic likely pathogenic uncertain significance likely benign benign affects association confers sensitivity drug response pathogenic, low penetrance protective risk factor other
pathogenic 0 382 81 2 4 0 0 0 3 1 1 3 1
likely pathogenic 228 1 132 3 1 0 0 0 0 0 1 0 1
uncertain significance 79 198 0 1149 145 0 1 0 2 0 1 1 1
likely benign 4 13 811 0 543 0 0 0 1 0 0 2 0
benign 11 28 800 4980 12 1 3 1 5 0 3 14 0
likely risk allele 0 0 0 1 1 0 0 0 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 169
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 7581 0 1871 752 1 159 2781
CeGaT Center for Human Genetics Tuebingen 0 2041 0 1675 398 1 54 2127
PreventionGenetics, part of Exact Sciences 0 3561 0 1291 312 0 43 1646
Breakthrough Genomics, Breakthrough Genomics 0 2571 0 1508 10 0 2 1519
Labcorp Genetics (formerly Invitae), Labcorp 0 4045 0 737 538 1 137 1412
Eurofins Ntd Llc (ga) 0 2821 0 606 753 1 31 1388
Genetic Services Laboratory, University of Chicago 0 985 0 1053 182 0 12 1247
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1063 0 725 92 0 9 826
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1414 0 538 189 1 33 761
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 192 0 706 34 0 1 741
Ambry Genetics 0 1059 0 379 169 0 13 560
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1417 0 389 145 0 13 547
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 697 0 505 32 0 0 537
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1529 0 317 154 0 7 478
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 526 0 398 36 0 2 436
Illumina Laboratory Services, Illumina 0 363 0 195 108 1 4 307
Revvity Omics, Revvity 0 1153 0 80 188 0 30 298
Mayo Clinic Laboratories, Mayo Clinic 0 815 0 74 199 0 22 294
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 533 0 222 56 0 2 280
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 204 0 234 35 0 2 271
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1143 0 194 40 0 8 242
Clinical Genetics, Academic Medical Center 0 1200 0 163 40 0 0 203
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 204 11 75 34 0 0 120
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 268 0 103 11 0 2 116
Fulgent Genetics, Fulgent Genetics 0 128 0 65 14 0 5 84
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 12 0 9 9 0 47 64
Department of Pathology and Laboratory Medicine, Sinai Health System 0 73 0 19 31 0 3 53
OMIM 0 57 0 2 4 27 9 41
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 95 0 30 7 0 1 38
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 47 0 22 8 0 1 31
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 46 0 13 16 0 1 30
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 20 0 9 15 0 3 27
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 66 0 10 14 0 0 24
Mendelics 0 33 0 7 11 0 4 22
Color Diagnostics, LLC DBA Color Health 0 75 0 13 7 0 1 21
Genome-Nilou Lab 0 202 0 19 1 0 1 21
AiLife Diagnostics, AiLife Diagnostics 0 49 0 14 2 0 4 20
All of Us Research Program, National Institutes of Health 0 58 0 11 5 0 4 20
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 114 0 15 0 0 4 19
Clinical Genetics Laboratory, Skane University Hospital Lund 0 110 0 11 1 0 3 15
Clinical Genetics and Genomics, Karolinska University Hospital 0 29 0 13 1 0 0 14
Gharavi Laboratory, Columbia University 0 41 0 8 0 0 5 13
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 51 0 3 5 0 4 12
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 32 0 11 1 0 0 12
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 29 0 8 4 0 1 12
Quest Diagnostics Nichols Institute San Juan Capistrano 0 268 0 6 3 0 2 10
Blueprint Genetics 0 29 0 7 2 0 1 10
PharmGKB 0 0 0 0 0 9 0 9
Institute of Human Genetics, University of Leipzig Medical Center 0 15 0 6 1 0 2 9
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 8 0 4 0 0 4 8
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 4 0 7 1 0 0 8
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 2 1 4 0 1 8
Kariminejad - Najmabadi Pathology & Genetics Center 0 28 0 5 1 0 2 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 18 0 3 2 0 2 7
Inherited Neuropathy Consortium 0 4 0 0 6 0 1 7
Institute of Human Genetics, University Hospital Muenster 0 24 0 4 1 0 2 7
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 3 0 2 4 1 0 7
CSER _CC_NCGL, University of Washington 0 3 0 1 3 0 2 6
Baylor Genetics 0 22 0 3 1 0 2 5
Counsyl 0 8 0 5 0 0 0 5
Center for Genetic Medicine Research, Children's National Medical Center 0 1 0 0 5 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 5 5
NIHR Bioresource Rare Diseases, University of Cambridge 0 4 0 3 0 0 3 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 0 5 0 0 1 5
New York Genome Center 0 1 0 1 3 0 2 5
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 9 0 1 3 0 1 5
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 12 0 0 4 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 7 0 0 3 0 1 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 28 0 3 0 0 2 4
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 5 0 2 1 0 1 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 5 0 2 2 0 0 4
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research 0 10 0 3 0 0 1 4
Claritas Genomics 0 2 0 1 2 0 0 3
King Laboratory, University of Washington 0 0 0 0 3 0 0 3
Natera, Inc. 0 94 0 3 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 8 0 3 0 0 1 3
Daryl Scott Lab, Baylor College of Medicine 0 11 0 1 1 0 2 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 4 0 3 1 0 1 3
SIB Swiss Institute of Bioinformatics 0 7 0 3 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 4 0 3 0 0 1 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 25 0 2 1 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 3 0 0 3 0 0 3
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 8 0 0 2 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 0 0 2 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 0 0 1 0 0 2 2
MGZ Medical Genetics Center 0 8 0 2 0 0 0 2
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center 0 0 0 0 1 0 1 2
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 2 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 8 0 1 1 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 6 0 0 0 0 2 2
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 0 0 0 0 0 0 2 2
Diagnostic Laboratory, Strasbourg University Hospital 0 0 0 0 1 0 1 2
Undiagnosed Diseases Network, NIH 0 3 0 1 0 0 2 2
Yale Center for Mendelian Genomics, Yale University 0 0 0 2 0 0 0 2
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 0 2 1 0 1 2
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 1 0 2 0 0 0 2
Department of Neurology, Guangzhou First People’s Hospital, School of Medicine, South China University of Technology 0 0 0 1 0 0 1 2
Molecular Genetics laboratory, Necker Hospital 0 2 0 2 0 0 0 2
Paris Brain Institute, Inserm - ICM 0 3 0 0 2 0 0 2
Genomics England Pilot Project, Genomics England 0 0 0 2 0 0 0 2
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 0 5 0 0 0 0 2 2
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 2 2
Solve-RD Consortium 0 0 0 0 0 0 2 2
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 0 2 0 0 2
Athena Diagnostics 21866 0 0 1 0 0 1 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 7 0 1 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 0 1 0 0 0 1
UniProtKB/Swiss-Prot 0 13 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 0 0 0 0 1 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 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 0 0 1 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1 1
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 0 0 0 0 1 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 1 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 1 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 0 0 1 0 0 1 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 0 1 0 0 1
National Institute on Deafness and Communication Disorders, National Institutes of Health 0 1 0 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 5 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 0 1 0 0 1
Genetic Testing Lab, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences 0 0 0 0 0 1 0 1
Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 1 0 0 1 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER, AOU Meyer 0 1 0 1 0 0 1 1
Phosphorus, Inc. 0 2 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 0 1 1 0 1 1
Institute of Cellular and Molecular Medicine, Copenhagen University 0 0 0 1 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 5 0 1 0 0 0 1
Flegel Lab, National Institutes of Health 0 0 0 1 0 0 1 1
Genetics Department, University Hospital of Toulouse 0 0 0 1 0 0 1 1
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 0 1 0 0 1 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 7 0 1 0 0 1 1
Medical Genetics Summaries 0 0 0 0 0 1 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 0 0 0 1 0 1 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 0 0 1 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 2 0 1 0 0 0 1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics 0 0 0 1 0 0 1 1
Institute of Human Genetics, Heidelberg University 0 0 0 1 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 0 0 0 1 0 0 0 1
Codex Genetics Limited 0 0 0 0 0 0 1 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 0 1 0 0 1 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 0 11 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 1 0 0 0 1
Rare Disease Group, University of Exeter 0 0 0 1 0 0 1 1
Central Laboratory, The First Hospital of Lanzhou University 0 0 0 1 0 0 1 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 0 0 1 0 0 1 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 0 1 0 0 0 1
Genomic Medicine, Universita Cattolica del Sacro Cuore 0 0 0 1 0 0 1 1
3billion 0 14 0 1 0 0 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 0 0 1 0 0 0 1
CMT Laboratory, Bogazici University 0 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 3 0 0 0 0 1 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 5 0 1 0 0 0 1
Imperial College London Diabetes Centre, Mubadala Healthcare 0 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 0 0 0 1 0 0 0 1
IU Genetic Testing Laboratories, Indiana University School of Medicine 0 0 0 1 0 0 1 1
Centro Dermatológico Federico Lleras Acosta, Hospital Universitario Centro Dermatológico Federico Lleras Acosta 0 0 0 0 0 1 0 1
Cytogenetics, Genetics Associates, Inc. 0 0 0 1 0 0 1 1
Biology Molecular and Stem Cell Facilities Laboratory, National Cardiovascular Center, Harapan Kita Hospital 0 0 0 0 0 0 1 1
Chao Lab, Baylor College of Medicine, Texas Children's Hospital 0 0 0 1 0 0 1 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 0 0 1 0 0 0 1
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 0 0 0 1 0 0 0 1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 0 0 0 1 0 0 1 1
Ophthalmology Lab, The First People's Hospital of Yunnan Provience 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 8513
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000054.7(AVPR2):c.26-6T>G rs56689668 0.99968
NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala) rs1552311 0.99751
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly) rs2515569 0.99234
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val) rs2147377 0.99149
NM_005045.4(RELN):c.8843+7G>C rs2711885 0.98938
NM_004977.3(KCNC3):c.188A>G (p.Asp63Gly) rs375912738 0.98789
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701 0.98600
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=) rs27673 0.98545
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598 0.98511
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=) rs1432794 0.98003
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg) rs268674 0.95976
NM_007327.4(GRIN1):c.1467+8G>A rs10747050 0.94915
NM_015346.4(ZFYVE26):c.5672A>G (p.Asn1891Ser) rs3742883 0.93795
NM_001126121.2(SLC25A19):c.339T>C (p.Tyr113=) rs7213318 0.93495
NM_000207.3(INS):c.187+11T>C rs5506 0.93263
NM_198994.3(TGM6):c.172A>G (p.Met58Val) rs2076405 0.93204
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=) rs2217342 0.93139
NM_000335.5(SCN5A):c.3183A>G (p.Glu1061=) rs7430407 0.90302
NM_002739.5(PRKCG):c.72C>T (p.Ala24=) rs2547362 0.89099
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) rs2229960 0.86626
NM_012301.4(MAGI2):c.3213G>A (p.Ser1071=) rs7812015 0.86488
NM_001961.4(EEF2):c.1632T>C (p.His544=) rs36526 0.86195
NM_001961.4(EEF2):c.2190T>C (p.Tyr730=) rs36527 0.86186
NM_012301.4(MAGI2):c.3357A>G (p.Leu1119=) rs2074641 0.85789
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met) rs2306916 0.82174
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829 0.81114
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=) rs1412640 0.81072
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr) rs6911096 0.80856
NM_000744.7(CHRNA4):c.678T>C (p.Cys226=) rs1044394 0.80763
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg) rs9479297 0.80638
NM_000335.5(SCN5A):c.87A>G (p.Ala29=) rs6599230 0.80621
NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=) rs711631 0.80127
NM_015915.5(ATL1):c.351G>A (p.Glu117=) rs1060197 0.79691
NM_201525.4(ADGRG1):c.996T>C (p.Thr332=) rs1376041 0.79034
NM_000744.7(CHRNA4):c.639T>C (p.Asp213=) rs1044393 0.78554
NM_018136.5(ASPM):c.10331+8A>G rs10754213 0.78251
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=) rs4915337 0.78235
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys) rs2366928 0.76852
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) rs4766309 0.75219
NM_018136.5(ASPM):c.849C>T (p.Ser283=) rs6677082 0.74886
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860 0.73885
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110 0.71935
NM_000069.3(CACNA1S):c.1828-5T>C rs1998721 0.71016
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) rs5215 0.70936
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596 0.69760
NM_024596.5(MCPH1):c.228G>T (p.Val76=) rs2305022 0.69651
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355 0.69367
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=) rs9646771 0.69145
NM_001378615.1(CC2D2A):c.3183-8T>C rs13121363 0.69106
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208 0.69087
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68136
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=) rs2306875 0.68068
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_001164508.2(NEB):c.771T>C (p.Ala257=) rs4611637 0.67903
NM_024596.5(MCPH1):c.940G>C (p.Asp314His) rs930557 0.67747
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482 0.66695
NM_000170.3(GLDC):c.*7G>C rs2228098 0.66615
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met) rs7426114 0.66326
NM_144599.5(NIPA1):c.441A>G (p.Thr147=) rs11263683 0.65973
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65125
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031 0.64845
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=) rs4407724 0.64816
NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=) rs6923864 0.64620
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=) rs914428 0.64398
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro) rs7575451 0.64120
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=) rs6432901 0.63691
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482 0.63686
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=) rs2256135 0.62436
NM_000352.6(ABCC8):c.2820+17A>G rs2106865 0.62022
NM_198578.4(LRRK2):c.7190T>C (p.Met2397Thr) rs3761863 0.61824
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=) rs303815 0.61642
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637 0.60091
NM_000231.3(SGCG):c.705T>C (p.Leu235=) rs1800353 0.60006
NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln) rs3772165 0.59837
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=) rs901854 0.59379
NM_181882.3(PRX):c.2645T>C (p.Val882Ala) rs268671 0.59048
NM_001048166.1(STIL):c.257C>T (p.Ala86Val) rs3125630 0.58260
NM_024884.3(L2HGDH):c.53T>G (p.Leu18Arg) rs2275591 0.58246
NM_024884.3(L2HGDH):c.159C>T (p.Ile53=) rs2297995 0.57872
NM_001032382.2(PQBP1):c.180-3C>T rs741932 0.57792
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=) rs9397102 0.57769
NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro) rs6923492 0.56886
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) rs6747673 0.56670
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086 0.56264
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp) rs4645434 0.55815
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=) rs4664475 0.55659
NM_001278064.2(GRM1):c.3495C>A (p.Pro1165=) rs9373491 0.55222
NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=) rs17261772 0.54411
NM_201384.3(PLEC):c.11886A>G (p.Thr3962=) rs6558406 0.54165
NM_002529.4(NTRK1):c.1887C>T (p.Ala629=) rs6337 0.53946
NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=) rs4789164 0.52943
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala) rs214976 0.52553
NM_032119.4(ADGRV1):c.11682C>T (p.Pro3894=) rs2438349 0.52519
NM_182961.4(SYNE1):c.1047+4T>A rs9397106 0.50379
NM_000217.3(KCNA1):c.804G>C (p.Thr268=) rs2227910 0.50318
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052 0.50252
NM_005045.4(RELN):c.8046T>C (p.His2682=) rs2229864 0.49951
NM_001278064.2(GRM1):c.2793G>A (p.Lys931=) rs2942 0.49950
NM_005045.4(RELN):c.578-3T>C rs607755 0.49658
NM_000092.5(COL4A4):c.4207T>C (p.Ser1403Pro) rs3752895 0.49558
NM_000383.4(AIRE):c.1578T>C (p.Asp526=) rs1133779 0.49286
NM_000489.6(ATRX):c.2785= (p.Glu929=) rs3088074 0.49116
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606 0.47852
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099 0.47531
NM_000217.3(KCNA1):c.684T>C (p.Cys228=) rs1048500 0.47043
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813 0.46878
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro) rs6493068 0.46763
NM_000352.6(ABCC8):c.579+14C>T rs2301703 0.46493
NM_006009.4(TUBA1A):c.288A>G (p.Lys96=) rs1056875 0.46100
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro) rs11120047 0.45814
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=) rs3747562 0.45408
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775 0.45330
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44635
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg) rs2244492 0.44551
NM_000335.5(SCN5A):c.5454T>C (p.Asp1818=) rs1805126 0.44288
NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857 0.44260
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) rs1131824 0.43499
NM_000545.8(HNF1A):c.51C>G (p.Leu17=) rs1169289 0.42543
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=) rs1044397 0.40957
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=) rs1044396 0.40465
NM_133642.5(LARGE1):c.435C>T (p.Ala145=) rs86487 0.39804
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met) rs3207090 0.39516
NM_006950.3(SYN1):c.510T>C (p.Asn170=) rs1142636 0.39391
NM_000383.4(AIRE):c.1197T>C (p.Ala399=) rs1800521 0.39210
NM_000834.5(GRIN2B):c.3534C>T (p.His1178=) rs1806191 0.39095
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) rs13402180 0.38234
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) rs13414203 0.38227
NM_000352.6(ABCC8):c.2117-3C>T rs1799854 0.37032
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala) rs2252755 0.37011
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp) rs1001238 0.36270
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val) rs3829746 0.36127
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700 0.36123
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377 0.35993
NM_002739.5(PRKCG):c.567T>C (p.Asn189=) rs3745406 0.35855
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val) rs2042995 0.35566
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_198859.4(PRICKLE2):c.259-6A>G rs2306380 0.35289
NM_033337.3(CAV3):c.99C>T (p.Asn33=) rs1008642 0.35060
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996 0.34979
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_003907.3(EIF2B5):c.1759A>G (p.Ile587Val) rs843358 0.33258
NM_012301.4(MAGI2):c.1014G>A (p.Lys338=) rs3735442 0.32833
NM_003384.3(VRK1):c.705C>T (p.Gly235=) rs2230532 0.32707
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys) rs197922 0.32616
NM_006279.5(ST3GAL3):c.209+9925A>G rs37458 0.32581
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=) rs1053315 0.32026
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=) rs3747563 0.31969
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31936
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31913
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro) rs6713162 0.31314
NM_032119.4(ADGRV1):c.7206G>A (p.Glu2402=) rs16876822 0.31193
NM_001378452.1(ITPR1):c.6717A>G (p.Thr2239=) rs13079522 0.30449
NM_000545.8(HNF1A):c.1501+7G>A rs2464195 0.30441
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=) rs10170273 0.30371
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=) rs2252748 0.30160
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) rs2229920 0.30148
NM_201384.3(PLEC):c.6170C>T (p.Ala2057Val) rs7002002 0.29901
NM_001164508.2(NEB):c.6807+6T>G rs10930723 0.29833
NM_201384.3(PLEC):c.4476G>A (p.Ala1492=) rs55646585 0.29352
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) rs2627043 0.29094
NM_020365.5(EIF2B3):c.243C>T (p.Asp81=) rs11556200 0.28819
NM_000110.4(DPYD):c.85T>C (p.Cys29Arg) rs1801265 0.27966
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166 0.27295
NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196 0.27177
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565 0.27175
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806 0.27053
NM_000834.5(GRIN2B):c.1665C>T (p.Ser555=) rs1805482 0.26553
NM_198994.3(TGM6):c.1476G>A (p.Lys492=) rs2295077 0.26435
NM_182961.4(SYNE1):c.17346+7G>A rs9383985 0.26223
NM_000545.8(HNF1A):c.1375C>T (p.Leu459=) rs2259820 0.26141
NM_020361.5(CPA6):c.133T>C (p.Phe45Leu) rs10957393 0.25723
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.24782
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_015192.4(PLCB1):c.2565G>A (p.Ala855=) rs2076413 0.24634
NM_000834.5(GRIN2B):c.2664C>T (p.Thr888=) rs1806201 0.24515
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=) rs2291862 0.24351
NM_000533.5(PLP1):c.609T>C (p.Asp203=) rs1126707 0.24299
NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=) rs17720698 0.24032
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met) rs3731746 0.24029
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838 0.23912
NM_033337.3(CAV3):c.123T>C (p.Phe41=) rs13087941 0.23875
NM_002303.6(LEPR):c.1029T>C (p.Ser343=) rs1805134 0.23693
NM_007327.4(GRIN1):c.789A>G (p.Pro263=) rs6293 0.23665
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530 0.23571
NM_182961.4(SYNE1):c.8384C>T (p.Ala2795Val) rs214950 0.23524
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=) rs5218 0.23002
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.22862
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768 0.22637
NM_003793.4(CTSF):c.126C>T (p.Pro42=) rs1044522 0.22541
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.22429
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929 0.21755
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His) rs36051007 0.21486
NM_000102.4(CYP17A1):c.1139+19T>G rs4919686 0.21485
NM_020975.6(RET):c.135= (p.Ala45=) rs1800858 0.21483
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr) rs12463674 0.21393
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile) rs34577613 0.20341
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396 0.19324
NM_018100.4(EFHC1):c.573+10A>G rs9349626 0.19089
NM_015915.5(ATL1):c.84A>G (p.Pro28=) rs35014209 0.18809
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125 0.18737
NM_000110.4(DPYD):c.1627A>G (p.Ile543Val) rs1801159 0.18640
NM_000383.4(AIRE):c.588C>T (p.Ser196=) rs878081 0.18544
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His) rs72646967 0.18477
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_175914.5(HNF4A):c.50-5C>T rs745975 0.17964
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=) rs16030 0.17770
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964 0.17550
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=) rs33988153 0.17490
NM_005045.4(RELN):c.7887T>C (p.Pro2629=) rs56345626 0.17245
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16948
NM_000335.5(SCN5A):c.1141-3C>A rs41312433 0.16844
NM_000834.5(GRIN2B):c.4197T>C (p.His1399=) rs1805247 0.16667
NM_000207.3(INS):c.*9C>T rs3842752 0.16663
NM_001166114.2(PNPLA6):c.1207G>C (p.Ala403Pro) rs17854645 0.16605
NM_001267550.2(TTN):c.25274G>A (p.Ser8425Asn) rs13390491 0.16593
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His) rs12693166 0.16435
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala) rs16866465 0.16270
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser) rs12693164 0.16204
NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala) rs506028 0.15920
NM_001378615.1(CC2D2A):c.124-6C>T rs1861049 0.15686
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350 0.15152
NM_182961.4(SYNE1):c.17745C>T (p.His5915=) rs12664753 0.14950
NM_201384.3(PLEC):c.3757-9A>G rs57461687 0.14687
NM_018129.4(PNPO):c.165C>T (p.Ser55=) rs11079804 0.14534
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His) rs3731749 0.14445
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025 0.14118
NM_012233.3(RAB3GAP1):c.1793A>G (p.Asn598Ser) rs10445686 0.14088
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14051
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717 0.14031
NM_015346.4(ZFYVE26):c.2559G>A (p.Leu853=) rs7143196 0.13893
NM_000085.5(CLCNKB):c.1441A>T (p.Thr481Ser) rs12140311 0.13867
NM_000545.8(HNF1A):c.1545G>A (p.Thr515=) rs55834942 0.13864
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128 0.13857
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu) rs16866406 0.13367
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569 0.13356
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023 0.13336
NM_182961.4(SYNE1):c.22671C>T (p.Ile7557=) rs3798756 0.13297
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747 0.13294
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426 0.13213
NM_182961.4(SYNE1):c.12276C>T (p.Leu4092=) rs71575926 0.12377
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889 0.12179
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=) rs16016 0.11927
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022 0.11855
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.11757
NM_002335.4(LRP5):c.2220C>T (p.Asn740=) rs2306862 0.11597
NM_020361.5(CPA6):c.746A>G (p.Asn249Ser) rs17343819 0.11318
NM_182961.4(SYNE1):c.24502G>T (p.Ala8168Ser) rs17082236 0.11250
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347 0.11222
NM_012301.4(MAGI2):c.2784T>C (p.Asn928=) rs1009524 0.11189
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725 0.10965
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val) rs3736228 0.10701
NM_004369.4(COL6A3):c.6945C>T (p.Phe2315=) rs2646265 0.10674
NM_014141.6(CNTNAP2):c.2256-6A>T rs10240482 0.10641
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=) rs2646258 0.10598
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793 0.10553
NM_000383.4(AIRE):c.1095+6G>A rs1800525 0.10544
NM_024589.3(ROGDI):c.414G>A (p.Thr138=) rs11553876 0.10521
NM_001370259.2(MEN1):c.1621= (p.Thr541=) rs2959656 0.10363
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys) rs16866538 0.10360
NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met) rs2295190 0.10318
NM_005045.4(RELN):c.2989C>G (p.Leu997Val) rs362691 0.10133
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986 0.09986
NM_001164508.2(NEB):c.2944-9G>A rs13427102 0.09971
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976 0.09838
NM_198578.4(LRRK2):c.1653C>G (p.Asn551Lys) rs7308720 0.09815
NM_000601.6(HGF):c.333A>G (p.Glu111=) rs5745635 0.09752
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496 0.09748
NM_015192.4(PLCB1):c.1251-4T>G rs2076689 0.09450
NM_000092.5(COL4A4):c.17T>C (p.Ile6Thr) rs16823264 0.09359
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) rs11479 0.09354
NM_001267550.2(TTN):c.7545C>T (p.Tyr2515=) rs2291306 0.09235
NM_182961.4(SYNE1):c.8177+9C>T rs56877632 0.08971
NM_001267550.2(TTN):c.24516C>T (p.Thr8172=) rs72648978 0.08964
NM_182914.3(SYNE2):c.12001T>C (p.Trp4001Arg) rs2792205 0.08782
NM_014625.4(NPHS2):c.1038A>G (p.Leu346=) rs3818587 0.08745
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125 0.08466
NM_014625.4(NPHS2):c.288C>T (p.Ser96=) rs3738423 0.08404
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039 0.08391
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.08263
NM_033337.3(CAV3):c.27C>T (p.Leu9=) rs1974763 0.08242
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg) rs35548026 0.08193
NM_000834.5(GRIN2B):c.2514C>T (p.Cys838=) rs3026160 0.08178
NM_000435.3(NOTCH3):c.3547G>A (p.Val1183Met) rs10408676 0.08167
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08157
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr) rs11669576 0.08075
NM_000110.4(DPYD):c.496A>G (p.Met166Val) rs2297595 0.08071
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=) rs16006 0.08064
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877 0.08050
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) rs1266787 0.07947
NM_198576.4(AGRN):c.5358T>C (p.Gly1786=) rs17160781 0.07808
NM_001379500.1(COL18A1):c.2117C>G (p.Pro706Arg) rs79980197 0.07777
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=) rs1861050 0.07770
NM_003919.3(SGCE):c.391-3T>C rs17166384 0.07675
NM_201384.3(PLEC):c.8820C>G (p.Asp2940Glu) rs58308209 0.07595
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu) rs36117715 0.07538
NM_000478.6(ALPL):c.330= (p.Ser110=) rs1780316 0.07448
NM_182961.4(SYNE1):c.14061G>C (p.Leu4687=) rs3734365 0.07333
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07211
NM_004369.4(COL6A3):c.8962A>G (p.Met2988Val) rs11690358 0.07188
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=) rs184087864 0.07175
NM_001145308.5(LRTOMT):c.69G>C (p.Leu23=) rs12272086 0.07159
NM_201384.3(PLEC):c.10920C>T (p.Tyr3640=) rs28455570 0.07092
NM_032119.4(ADGRV1):c.8730+10_8730+11insC rs377585302 0.07015
NM_020365.5(EIF2B3):c.149-4A>G rs72887005 0.06955
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4]) rs398124622 0.06950
NM_005866.4(SIGMAR1):c.552C>T (p.Phe184=) rs61739588 0.06946
NM_004369.4(COL6A3):c.8451A>G (p.Pro2817=) rs61729844 0.06907
NM_004369.4(COL6A3):c.7842C>T (p.Ser2614=) rs34558385 0.06824
NM_004369.4(COL6A3):c.8820G>A (p.Thr2940=) rs11683438 0.06809
NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile) rs3737821 0.06797
NM_004369.4(COL6A3):c.7329C>T (p.Ala2443=) rs10084221 0.06701
NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn) rs12483377 0.06693
NM_182961.4(SYNE1):c.3306C>T (p.His1102=) rs17082701 0.06632
NM_001368067.1(LDB3):c.504T>C (p.Asp168=) rs76615432 0.06598
NM_001365536.1(SCN9A):c.3802-4A>G rs75230218 0.06537
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356 0.06522
NM_001458.5(FLNC):c.3624G>A (p.Ala1208=) rs35281128 0.06502
NM_002206.3(ITGA7):c.415-10C>T rs11171661 0.06475
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) rs149207258 0.06434
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=) rs10201909 0.06364
NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu) rs17851770 0.06310
NM_006946.4(SPTBN2):c.4899G>A (p.Leu1633=) rs639938 0.06302
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571 0.06284
NM_001458.5(FLNC):c.4700G>A (p.Arg1567Gln) rs2291569 0.06258
NM_005045.4(RELN):c.6702T>C (p.Cys2234=) rs2075043 0.06249
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_001379180.1(ESRRB):c.1219C>T (p.Pro407Ser) rs61742642 0.06142
NM_001909.5(CTSD):c.231C>T (p.Ala77=) rs2230067 0.06127
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801 0.06070
NM_198578.4(LRRK2):c.4269G>A (p.Lys1423=) rs11175964 0.06033
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06023
NM_018943.3(TUBA8):c.1057-7C>T rs2234338 0.05923
NM_182961.4(SYNE1):c.2653T>G (p.Leu885Val) rs17082709 0.05898
NM_001267550.2(TTN):c.22080T>C (p.Asp7360=) rs16866473 0.05854
NM_000726.5(CACNB4):c.1239G>A (p.Leu413=) rs1805028 0.05818
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln) rs11896521 0.05751
NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly) rs56389778 0.05750
NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=) rs17543819 0.05741
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser) rs4894048 0.05739
NM_001174089.2(SLC4A11):c.2451G>A (p.Thr817=) rs58757394 0.05710
NM_002547.3(OPHN1):c.115G>A (p.Val39Ile) rs41303733 0.05665
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn) rs11888217 0.05644
NM_000726.5(CACNB4):c.762T>A (p.Ile254=) rs61736804 0.05586
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_000335.5(SCN5A):c.4845C>T (p.Phe1615=) rs41315495 0.05498
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr) rs75807392 0.05468
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=) rs4894045 0.05415
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg) rs4893853 0.05414
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519 0.05277
NM_201384.3(PLEC):c.8025C>T (p.Gly2675=) rs35139934 0.05241
NM_001009944.3(PKD1):c.8898G>C (p.Glu2966Asp) rs13337123 0.05219
NM_201525.4(ADGRG1):c.1286+6G>A rs74326170 0.05188
NM_001032221.6(STXBP1):c.846C>T (p.Asp282=) rs58889246 0.05156
NM_004646.4(NPHS1):c.3595-9G>T rs77309273 0.05118
NM_182961.4(SYNE1):c.8163C>T (p.Ser2721=) rs58905396 0.05078
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593 0.05037
NM_006946.4(SPTBN2):c.5340C>T (p.Asn1780=) rs623022 0.05027
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.05027
NM_002206.3(ITGA7):c.3018C>G (p.Ser1006=) rs17117883 0.05018
NM_001853.4(COL9A3):c.280C>T (p.Pro94Ser) rs35908728 0.04973
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410 0.04825
NM_018075.5(ANO10):c.1682C>T (p.Thr561Met) rs17409162 0.04825
NM_001009944.3(PKD1):c.8644T>A (p.Trp2882Arg) rs13333553 0.04733
NM_015346.4(ZFYVE26):c.3308C>T (p.Pro1103Leu) rs3742885 0.04730
NM_020549.5(CHAT):c.727C>T (p.Leu243Phe) rs8178990 0.04717
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu) rs2295837 0.04647
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185 0.04642
NM_001854.4(COL11A1):c.2043+8G>A rs2622875 0.04635
NM_000070.3(CAPN3):c.2380+12del rs28364538 0.04623
NM_000023.4(SGCA):c.37+23G>A rs79410682 0.04607
NM_001244008.2(KIF1A):c.4319-8C>T rs1529663 0.04602
NM_057176.3(BSND):c.127G>A (p.Val43Ile) rs34561376 0.04587
NM_032119.4(ADGRV1):c.14905T>C (p.Trp4969Arg) rs7729495 0.04586
NM_015346.4(ZFYVE26):c.3365C>T (p.Ala1122Val) rs3742884 0.04583
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe) rs16841081 0.04499
NM_194248.3(OTOF):c.5655C>T (p.Arg1885=) rs45442103 0.04497
NM_000399.5(EGR2):c.1086A>C (p.Arg362=) rs45602133 0.04462
NM_006279.5(ST3GAL3):c.892-9G>A rs80055718 0.04438
NM_004646.4(NPHS1):c.1223G>A (p.Arg408Gln) rs33950747 0.04436
NM_001851.6(COL9A1):c.2299A>G (p.Met767Val) rs6910140 0.04394
NM_001146079.2(CLDN14):c.11C>T (p.Thr4Met) rs113831133 0.04384
NM_003283.6(TNNT1):c.33-8G>A rs76630067 0.04332
NM_005677.4(COLQ):c.366+7A>G rs750387 0.04329
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04317
NM_000310.4(PPT1):c.401T>C (p.Ile134Thr) rs1800205 0.04289
NM_015192.4(PLCB1):c.99+8T>C rs6086350 0.04263
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04192
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=) rs35959206 0.04188
NM_001614.5(ACTG1):c.1014G>A (p.Ser338=) rs1139807 0.04188
NM_025243.4(SLC19A3):c.435C>T (p.Ser145=) rs76517176 0.04166
NM_025243.4(SLC19A3):c.549T>C (p.Ala183=) rs74693100 0.04158
NM_207346.3(TSEN54):c.568G>A (p.Val190Met) rs79508780 0.04141
NM_000334.4(SCN4A):c.366C>T (p.Arg122=) rs41280108 0.04121
NM_182914.3(SYNE2):c.14776T>C (p.Leu4926=) rs8007874 0.04106
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04097
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=) rs2272727 0.04090
NM_002775.5(HTRA1):c.753C>T (p.Ile251=) rs17624021 0.04081
NM_001614.5(ACTG1):c.1026T>C (p.Gly342=) rs1139406 0.04077
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_001042472.3(ABHD12):c.1045G>A (p.Ala349Thr) rs746748 0.04054
NM_000335.5(SCN5A):c.2788-6C>T rs41260344 0.04041
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998 0.04030
NM_000110.4(DPYD):c.2194G>A (p.Val732Ile) rs1801160 0.03993
NM_000080.4(CHRNE):c.519C>T (p.Ala173=) rs33970119 0.03958
NM_004977.3(KCNC3):c.123G>T (p.Gln41His) rs185017345 0.03953
NM_015346.4(ZFYVE26):c.3118T>A (p.Ser1040Thr) rs112787369 0.03942
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095 0.03933
NM_005422.4(TECTA):c.56A>G (p.Gln19Arg) rs35507522 0.03926
NM_182914.3(SYNE2):c.4536A>G (p.Thr1512=) rs11158524 0.03853
NM_182961.4(SYNE1):c.9954C>T (p.Ser3318=) rs73626656 0.03822
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=) rs16947296 0.03818
NM_194248.3(OTOF):c.2703G>A (p.Ser901=) rs4997760 0.03814
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_005045.4(RELN):c.8508C>T (p.Phe2836=) rs2229862 0.03751
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln) rs56181447 0.03706
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_182914.3(SYNE2):c.7040C>A (p.Ala2347Glu) rs34625768 0.03696
NM_182914.3(SYNE2):c.7075A>G (p.Ser2359Gly) rs7157465 0.03696
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03694
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu) rs111033465 0.03680
NM_032409.3(PINK1):c.344A>T (p.Gln115Leu) rs148871409 0.03666
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala) rs9014 0.03641
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324 0.03639
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=) rs2286128 0.03626
NM_152564.5(VPS13B):c.3667-7C>T rs35543295 0.03607
NM_001122955.4(BSCL2):c.60C>G (p.Asp20Glu) rs115116507 0.03600
NM_001244008.2(KIF1A):c.234C>T (p.Gly78=) rs61744930 0.03600
NM_032119.4(ADGRV1):c.14029T>C (p.Phe4677Leu) rs62000408 0.03559
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=) rs56126202 0.03553
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val) rs72646881 0.03550
NM_032119.4(ADGRV1):c.12927G>A (p.Ala4309=) rs35092519 0.03534
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile) rs67665715 0.03523
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03519
NM_194248.3(OTOF):c.509+10A>G rs76712142 0.03505
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr) rs11896637 0.03502
NM_001849.4(COL6A2):c.714+9C>T rs78822624 0.03502
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_032119.4(ADGRV1):c.6289C>T (p.Arg2097Cys) rs16868974 0.03455
NM_001953.5(TYMP):c.831G>A (p.Leu277=) rs8141558 0.03453
NM_001009944.3(PKD1):c.8913T>C (p.Ala2971=) rs9926309 0.03447
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529 0.03418
NM_013275.6(ANKRD11):c.6787C>T (p.Pro2263Ser) rs76793093 0.03409
NM_015346.4(ZFYVE26):c.1224G>T (p.Gly408=) rs17104689 0.03409
NM_152564.5(VPS13B):c.11565A>G (p.Ser3855=) rs7844645 0.03400
NM_182961.4(SYNE1):c.14917C>T (p.Leu4973=) rs35085679 0.03400
NM_001851.6(COL9A1):c.1066-3T>C rs16868869 0.03394
NM_001458.5(FLNC):c.3838C>T (p.Leu1280=) rs34180031 0.03367
NM_001379500.1(COL18A1):c.2340G>C (p.Gln780His) rs2230693 0.03336
NM_002739.5(PRKCG):c.285C>T (p.Asp95=) rs17854523 0.03329
NM_001378030.1(CCDC78):c.549G>A (p.Leu183=) rs8055909 0.03323
NM_014363.6(SACS):c.909A>G (p.Ala303=) rs41315020 0.03313
NM_001101.5(ACTB):c.942G>A (p.Gln314=) rs11546939 0.03304
NM_182914.3(SYNE2):c.14734C>G (p.Pro4912Ala) rs17766354 0.03286
NM_000070.3(CAPN3):c.1029+3A>G rs28364442 0.03285
NM_182914.3(SYNE2):c.3559A>C (p.Ile1187Leu) rs57259697 0.03281
NM_182914.3(SYNE2):c.2409C>A (p.Ser803=) rs17101525 0.03277
NM_182961.4(SYNE1):c.22473G>A (p.Leu7491=) rs34891041 0.03277
NM_025243.4(SLC19A3):c.520G>A (p.Val174Ile) rs59736804 0.03276
NM_001848.3(COL6A1):c.1773G>A (p.Pro591=) rs74852641 0.03265
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419 0.03262
NM_007262.5(PARK7):c.234C>T (p.Gly78=) rs11548937 0.03255
NM_033380.3(COL4A5):c.3519T>G (p.Gly1173=) rs61735627 0.03239
NM_032119.4(ADGRV1):c.10872A>G (p.Gln3624=) rs17624033 0.03213
NM_000834.5(GRIN2B):c.15G>A (p.Ala5=) rs34315573 0.03193
NM_002087.4(GRN):c.384T>C (p.Asp128=) rs25646 0.03192
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=) rs16978875 0.03177
NM_013296.5(GPSM2):c.753A>G (p.Ala251=) rs12069435 0.03167
NM_001166114.2(PNPLA6):c.2547G>A (p.Ser849=) rs522776 0.03161
NM_032119.4(ADGRV1):c.16248C>T (p.Val5416=) rs3763073 0.03149
NM_000334.4(SCN4A):c.4288+10G>T rs114059193 0.03137
NM_013296.5(GPSM2):c.1370C>T (p.Thr457Met) rs35089879 0.03137
NM_182914.3(SYNE2):c.10567A>C (p.Lys3523Gln) rs35203186 0.03124
NM_000257.4(MYH7):c.1605A>G (p.Glu535=) rs2069543 0.03103
NM_015346.4(ZFYVE26):c.7232G>A (p.Arg2411His) rs34373049 0.03090
NM_013296.5(GPSM2):c.278+5T>C rs9727773 0.03074
NM_015404.4(WHRN):c.1515G>A (p.Ala505=) rs34252199 0.03063
NM_000447.3(PSEN2):c.708T>C (p.Ser236=) rs61730652 0.03044
NM_001164508.2(NEB):c.19102-6C>T rs145127681 0.03008
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03006
NM_000334.4(SCN4A):c.2919C>T (p.Pro973=) rs73992419 0.02985
NM_002693.3(POLG):c.2958C>T (p.Tyr986=) rs2307431 0.02985
NM_032119.4(ADGRV1):c.380T>G (p.Leu127Arg) rs41311333 0.02974
NM_198576.4(AGRN):c.261C>T (p.Asp87=) rs6657048 0.02966
NM_012233.3(RAB3GAP1):c.1992G>A (p.Ser664=) rs7595725 0.02952
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179 0.02937
NM_016341.4(PLCE1):c.1405T>A (p.Ser469Thr) rs17508082 0.02936
NM_000196.4(HSD11B2):c.534G>A (p.Glu178=) rs45483293 0.02897
NM_194248.3(OTOF):c.2022C>T (p.Asp674=) rs13004993 0.02894
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu) rs8177536 0.02889
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp) rs1800278 0.02886
NM_001009944.3(PKD1):c.7642G>C (p.Glu2548Gln) rs28369051 0.02881
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val) rs41305353 0.02876
NM_016239.4(MYO15A):c.7503G>A (p.Thr2501=) rs16960961 0.02872
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_001165963.4(SCN1A):c.345T>C (p.Asn115=) rs61741123 0.02836
NM_182961.4(SYNE1):c.12607G>A (p.Glu4203Lys) rs2130262 0.02821
NM_201525.4(ADGRG1):c.1460T>C (p.Met487Thr) rs17379472 0.02806
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_001267550.2(TTN):c.36299A>T (p.Glu12100Val) rs73973133 0.02781
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp) rs1800273 0.02767
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_001164508.2(NEB):c.4407G>C (p.Glu1469Asp) rs34800215 0.02746
NM_004369.4(COL6A3):c.1976G>A (p.Arg659His) rs36092870 0.02734
NM_194248.3(OTOF):c.1926C>T (p.Asn642=) rs72853741 0.02727
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=) rs1801261 0.02724
NM_007078.3(LDB3):c.1074C>T (p.Ala358=) rs45459491 0.02721
NM_001042702.5(PJVK):c.874G>A (p.Gly292Arg) rs79399438 0.02714
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_004820.5(CYP7B1):c.971G>A (p.Arg324His) rs59035258 0.02701
NM_182961.4(SYNE1):c.12138G>A (p.Gln4046=) rs60344647 0.02693
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_020822.3(KCNT1):c.978A>G (p.Pro326=) rs61739517 0.02678
NM_020451.3(SELENON):c.981C>T (p.Arg327=) rs147587542 0.02669
NM_004369.4(COL6A3):c.882C>T (p.Phe294=) rs7561625 0.02665
NM_014363.6(SACS):c.1839G>A (p.Gln613=) rs35840595 0.02663
NM_018451.5(CPAP):c.163C>G (p.Pro55Ala) rs17081389 0.02639
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02617
NM_000360.4(TH):c.1401C>T (p.Asp467=) rs3842724 0.02616
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=) rs34292743 0.02604
NM_015346.4(ZFYVE26):c.2332+7del rs145183291 0.02598
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114 0.02597
NM_000702.4(ATP1A2):c.2961C>T (p.Cys987=) rs74123254 0.02590
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_000391.4(TPP1):c.381-10dup rs146315473 0.02566
NM_021625.5(TRPV4):c.2459-9T>G rs115373018 0.02566
NM_013296.5(GPSM2):c.828A>G (p.Lys276=) rs338489 0.02561
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821 0.02553
NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=) rs61749020 0.02545
NM_000092.5(COL4A4):c.2276C>T (p.Pro759Leu) rs36121515 0.02529
NM_000435.3(NOTCH3):c.6221C>T (p.Pro2074Leu) rs114447350 0.02512
NM_182961.4(SYNE1):c.26002-4A>G rs77220999 0.02512
NM_006790.3(MYOT):c.149A>G (p.Gln50Arg) rs34717730 0.02506
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874 0.02502
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_012301.4(MAGI2):c.3915G>A (p.Gln1305=) rs117054456 0.02486
NM_000260.4(MYO7A):c.6240C>T (p.Ser2080=) rs41298757 0.02484
NM_182961.4(SYNE1):c.22452A>G (p.Ser7484=) rs36044575 0.02480
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val) rs61734789 0.02478
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713 0.02472
NM_003482.4(KMT2D):c.12028T>C (p.Ser4010Pro) rs80132640 0.02449
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768 0.02431
NM_000069.3(CACNA1S):c.2063+7G>T rs79984703 0.02430
NM_000054.7(AVPR2):c.35G>A (p.Gly12Glu) rs2071126 0.02429
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=) rs34181055 0.02427
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02419
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) rs17078601 0.02418
NM_000540.3(RYR1):c.1577-6C>G rs61586345 0.02394
NM_021625.5(TRPV4):c.81T>C (p.Gly27=) rs34599967 0.02388
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu) rs111033183 0.02384
NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys) rs36024592 0.02382
NM_001852.4(COL9A2):c.364-8C>T rs11207843 0.02379
NM_000260.4(MYO7A):c.3828G>A (p.Ser1276=) rs78871677 0.02377
NM_005677.4(COLQ):c.1248C>T (p.Asp416=) rs55866379 0.02369
NM_173660.5(DOK7):c.589G>A (p.Asp197Asn) rs16844422 0.02362
NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln) rs73175207 0.02358
NM_201384.3(PLEC):c.10046C>T (p.Thr3349Met) rs34725742 0.02357
NM_001242896.3(DEPDC5):c.3358A>G (p.Met1120Val) rs61731662 0.02356
NM_005045.4(RELN):c.7110T>C (p.Val2370=) rs362746 0.02354
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=) rs73036398 0.02352
NM_001164508.2(NEB):c.612+8T>C rs113095802 0.02350
NM_032119.4(ADGRV1):c.11472G>A (p.Leu3824=) rs74327115 0.02341
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu) rs13021201 0.02340
NM_182961.4(SYNE1):c.6470A>G (p.Lys2157Arg) rs75989452 0.02333
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr) rs41311343 0.02332
NM_001122659.3(EDNRB):c.*1767C>T rs3027092 0.02325
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=) rs55847232 0.02317
NM_005592.4(MUSK):c.225C>T (p.Tyr75=) rs56130155 0.02312
NM_182914.3(SYNE2):c.12626T>C (p.Ile4209Thr) rs61747118 0.02309
NM_001146079.2(CLDN14):c.63G>A (p.Thr21=) rs117560775 0.02306
NM_000069.3(CACNA1S):c.2748C>T (p.His916=) rs2297902 0.02302
NM_015346.4(ZFYVE26):c.2852C>T (p.Thr951Met) rs35471427 0.02295
NM_182914.3(SYNE2):c.13254C>A (p.Asn4418Lys) rs36021513 0.02290
NM_000334.4(SCN4A):c.3720+10A>G rs111679484 0.02281
NM_032119.4(ADGRV1):c.9771C>T (p.Ser3257=) rs16869039 0.02278
NM_014874.4(MFN2):c.159C>T (p.Ser53=) rs61733200 0.02240
NM_001164508.2(NEB):c.8466C>T (p.His2822=) rs61730771 0.02236
NM_001843.4(CNTN1):c.401-9C>T rs57340925 0.02228
NM_022124.6(CDH23):c.1134+13A>G rs7903502 0.02225
NM_032119.4(ADGRV1):c.327C>T (p.Asp109=) rs61753944 0.02215
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=) rs61004744 0.02213
NM_001852.4(COL9A2):c.737C>T (p.Thr246Met) rs2228565 0.02212
NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln) rs74401238 0.02210
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751 0.02208
NM_006261.5(PROP1):c.174G>A (p.Pro58=) rs2233784 0.02188
NM_001267550.2(TTN):c.45738T>C (p.Ala15246=) rs2303829 0.02187
NM_015340.4(LARS2):c.972C>A (p.His324Gln) rs71645922 0.02186
NM_182961.4(SYNE1):c.12442G>C (p.Asp4148His) rs117501809 0.02182
NM_182914.3(SYNE2):c.8422C>T (p.Leu2808=) rs35960129 0.02175
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala) rs28413664 0.02172
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719 0.02170
NM_030665.4(RAI1):c.264G>A (p.Gln88=) rs61999281 0.02170
NM_001256317.3(TMPRSS3):c.432A>G (p.Gln144=) rs61731564 0.02161
NM_182961.4(SYNE1):c.2527C>T (p.Arg843Cys) rs34610829 0.02158
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile) rs55675869 0.02155
NM_000540.3(RYR1):c.11754T>A (p.Thr3918=) rs45613041 0.02154
NM_001378452.1(ITPR1):c.6696A>G (p.Lys2232=) rs34491089 0.02153
NM_004999.4(MYO6):c.3303C>T (p.Cys1101=) rs9443199 0.02151
NM_000170.3(GLDC):c.671G>A (p.Arg224His) rs28617412 0.02144
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_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn) rs11896293 0.02143
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg) rs2288563 0.02142
NM_182961.4(SYNE1):c.3960A>G (p.Thr1320=) rs138705766 0.02134
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832 0.02127
NM_004006.3(DMD):c.4878G>T (p.Val1626=) rs61733574 0.02120
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780 0.02113
NM_001244008.2(KIF1A):c.4143G>A (p.Pro1381=) rs2241683 0.02108
NM_001267550.2(TTN):c.67635T>C (p.Val22545=) rs2288570 0.02106
NM_133433.4(NIPBL):c.4561-9T>A rs79924167 0.02103
NM_000144.5(FXN):c.-7G>A rs145006100 0.02101
NM_003289.4(TPM2):c.773-4_773-3insA rs1554658501 0.02101
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile) rs2274516 0.02095
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355 0.02090
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys) rs111033430 0.02084
NM_000260.4(MYO7A):c.288G>A (p.Thr96=) rs56023295 0.02082
NM_001267550.2(TTN):c.52821T>C (p.Asp17607=) rs2303831 0.02082
NM_000441.2(SLC26A4):c.2130C>T (p.Asp710=) rs17154347 0.02079
NM_002206.3(ITGA7):c.2433-5G>A rs79745402 0.02069
NM_000334.4(SCN4A):c.2989+5G>A rs115695396 0.02066
NM_000079.4(CHRNA1):c.1073A>T (p.Asp358Val) rs6739001 0.02064
NM_001267550.2(TTN):c.51684G>A (p.Ala17228=) rs2288566 0.02055
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=) rs13879 0.02053
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr) rs41281316 0.02047
NM_182914.3(SYNE2):c.11385G>A (p.Lys3795=) rs34954189 0.02047
NM_018129.4(PNPO):c.486C>G (p.Pro162=) rs35974730 0.02044
NM_001111125.3(IQSEC2):c.1641G>A (p.Ala547=) rs61745228 0.02041
NM_000080.4(CHRNE):c.45C>T (p.Leu15=) rs34563587 0.02026
NM_000163.5(GHR):c.1473C>T (p.Ser491=) rs6176 0.02017
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245 0.02014
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser) rs3813246 0.02011
NM_018451.5(CPAP):c.187G>C (p.Asp63His) rs7336216 0.02010
NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu) rs11910483 0.02006
NM_001166114.2(PNPLA6):c.183G>A (p.Val61=) rs35732838 0.01999
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=) rs11694623 0.01999
NM_001267550.2(TTN):c.87087T>C (p.Leu29029=) rs12621078 0.01996
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala) rs56018860 0.01992
NM_001267550.2(TTN):c.91852+8T>A rs56145100 0.01992
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly) rs72648257 0.01992
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr) rs3731745 0.01991
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=) rs3813247 0.01986
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys) rs56057221 0.01984
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508 0.01984
NM_001267550.2(TTN):c.95553C>T (p.Ser31851=) rs72648260 0.01980
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys) rs16990264 0.01980
NM_005422.4(TECTA):c.4751G>C (p.Ser1584Thr) rs34963131 0.01980
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=) rs56214710 0.01979
NM_001845.6(COL4A1):c.1084+5C>G rs74508743 0.01977
NM_182914.3(SYNE2):c.17556+4T>C rs2297301 0.01974
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_001267550.2(TTN):c.37461A>T (p.Glu12487Asp) rs200021871 0.01963
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser) rs34927702 0.01962
NM_004172.5(SLC1A3):c.657G>C (p.Glu219Asp) rs2032892 0.01962
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129 0.01960
NM_024306.5(FA2H):c.289C>G (p.Pro97Ala) rs35874850 0.01957
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369 0.01950
NM_152564.5(VPS13B):c.3837C>T (p.Cys1279=) rs34941871 0.01949
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050 0.01946
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212 0.01940
NM_000497.4(CYP11B1):c.1098T>G (p.Arg366=) rs61752769 0.01939
NM_000245.4(MET):c.1124A>G (p.Asn375Ser) rs33917957 0.01935
NM_032551.5(KISS1R):c.565G>A (p.Ala189Thr) rs73507527 0.01935
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
NM_022489.4(INF2):c.3478G>A (p.Gly1160Ser) rs9672065 0.01930
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser) rs72650006 0.01912
NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser) rs111033231 0.01911
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=) rs72851170 0.01908
NM_016239.4(MYO15A):c.4533C>T (p.Ala1511=) rs114328138 0.01906
NM_032119.4(ADGRV1):c.12592G>A (p.Val4198Met) rs2460169 0.01906
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=) rs61735829 0.01898
NM_018075.5(ANO10):c.788G>A (p.Arg263His) rs41289586 0.01896
NM_004369.4(COL6A3):c.1786G>T (p.Ala596Ser) rs34934127 0.01891
NM_032119.4(ADGRV1):c.581C>A (p.Pro194His) rs61745498 0.01883
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) rs35641839 0.01879
NM_153766.3(KCNJ1):c.45G>A (p.Gly15=) rs75088315 0.01875
NM_002303.6(LEPR):c.2597+15G>C rs6693573 0.01870
NM_001009944.3(PKD1):c.7077G>C (p.Arg2359=) rs4018162 0.01868
NM_001256545.2(MEGF10):c.3189G>A (p.Glu1063=) rs56157640 0.01867
NM_004369.4(COL6A3):c.7086A>C (p.Gly2362=) rs35902696 0.01859
NM_001134407.3(GRIN2A):c.1329-8C>T rs7193290 0.01855
NM_004082.5(DCTN1):c.2448A>G (p.Ala816=) rs1130484 0.01851
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=) rs75519005 0.01848
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01847
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu) rs2229792 0.01847
NM_001330078.2(NRXN1):c.900C>T (p.Pro300=) rs2303298 0.01844
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=) rs72648983 0.01842
NM_001267550.2(TTN):c.87669T>C (p.His29223=) rs72648229 0.01840
NM_005529.7(HSPG2):c.6114C>G (p.Ile2038Met) rs116788687 0.01837
NM_182914.3(SYNE2):c.12122G>A (p.Arg4041His) rs17101661 0.01834
NM_001844.5(COL2A1):c.610-7G>A rs7967258 0.01828
NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=) rs35993209 0.01827
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile) rs56309296 0.01826
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr) rs56365600 0.01825
NM_001034116.2(EIF2B4):c.916C>G (p.Arg306Gly) rs78599355 0.01806
NM_004646.4(NPHS1):c.1175T>C (p.Leu392Pro) rs34320609 0.01801
NM_000026.4(ADSL):c.358-4G>A rs113199851 0.01800
NM_001379180.1(ESRRB):c.204G>C (p.Leu68=) rs61744548 0.01800
NM_014855.3(AP5Z1):c.2098G>A (p.Val700Met) rs11766611 0.01795
NM_001848.3(COL6A1):c.1957-5C>T rs78224483 0.01793
NM_002303.6(LEPR):c.1285+20G>A rs13306522 0.01792
NM_001244008.2(KIF1A):c.1503A>G (p.Pro501=) rs35663732 0.01790
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg) rs115517108 0.01785
NM_173660.5(DOK7):c.-6C>G rs191800156 0.01785
NM_005198.5(CHKB):c.216C>T (p.Tyr72=) rs80067609 0.01782
NM_000079.4(CHRNA1):c.540+4G>C rs112674580 0.01772
NM_000500.9(CYP21A2):c.*13G>A rs6447 0.01770
NM_001164508.2(NEB):c.8318G>A (p.Arg2773Gln) rs35974308 0.01764
NM_033305.3(VPS13A):c.9382T>C (p.Leu3128=) rs34255276 0.01761
NM_001378030.1(CCDC78):c.937C>T (p.Leu313=) rs61998209 0.01757
NM_001039.4(SCNN1G):c.636C>T (p.Ser212=) rs5739 0.01751
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288 0.01748
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln) rs73399520 0.01746
NM_022124.6(CDH23):c.2958G>A (p.Leu986=) rs74702249 0.01745
NM_001371623.1(TCOF1):c.4295G>C (p.Gly1432Ala) rs45491898 0.01744
NM_138691.3(TMC1):c.1457T>C (p.Met486Thr) rs17058153 0.01743
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01739
NM_000083.3(CLCN1):c.2284+5C>T rs74824159 0.01735
NM_000834.5(GRIN2B):c.504C>A (p.Ile168=) rs36031537 0.01733
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=) rs16029 0.01726
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile) rs56027402 0.01724
NM_000815.5(GABRD):c.659G>A (p.Arg220His) rs41307846 0.01721
NM_001292063.2(OTOG):c.8490G>C (p.Lys2830Asn) rs61997203 0.01716
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925 0.01714
NM_198576.4(AGRN):c.1058A>G (p.Gln353Arg) rs150359724 0.01713
NM_003482.4(KMT2D):c.7188T>C (p.Cys2396=) rs111305262 0.01710
NM_004369.4(COL6A3):c.8145A>G (p.Leu2715=) rs35763271 0.01709
NM_004369.4(COL6A3):c.7995A>C (p.Ala2665=) rs80193928 0.01707
NM_000100.4(CSTB):c.15G>T (p.Ala5=) rs4533 0.01694
NM_001267550.2(TTN):c.37202-4T>C rs202032281 0.01693
NM_001244710.2(GFPT1):c.147T>C (p.Asp49=) rs2230300 0.01692
NM_001384474.1(LOXHD1):c.2370C>T (p.Asp790=) rs34723936 0.01692
NM_012232.6(CAVIN1):c.927G>A (p.Ala309=) rs112332573 0.01692
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956 0.01688
NM_001852.4(COL9A2):c.955-4C>G rs118135975 0.01678
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys) rs77697105 0.01678
NM_012232.6(CAVIN1):c.843G>A (p.Leu281=) rs35648297 0.01677
NM_000092.5(COL4A4):c.3486A>G (p.Pro1162=) rs2229815 0.01659
NM_000142.5(FGFR3):c.1075+5C>T rs3135885 0.01659
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys) rs72648987 0.01659
NM_001164508.2(NEB):c.21856G>A (p.Asp7286Asn) rs35625617 0.01652
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01651
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val) rs72648954 0.01649
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851 0.01643
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu) rs34071195 0.01643
NM_001256545.2(MEGF10):c.984C>T (p.Asn328=) rs35550094 0.01638
NM_007327.4(GRIN1):c.2241G>C (p.Val747=) rs116354349 0.01638
NM_007327.4(GRIN1):c.2244G>C (p.Thr748=) rs79570612 0.01637
NM_201384.3(PLEC):c.6741C>T (p.Ile2247=) rs62641755 0.01627
NM_001164508.2(NEB):c.571G>C (p.Glu191Gln) rs35686968 0.01624
NM_000092.5(COL4A4):c.2008G>A (p.Val670Ile) rs34236495 0.01622
NM_016239.4(MYO15A):c.9708G>A (p.Val3236=) rs115393178 0.01622
NM_000144.5(FXN):c.226A>G (p.Met76Val) rs59907886 0.01619
NM_006790.3(MYOT):c.780G>A (p.Ser260=) rs116773838 0.01617
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=) rs35984374 0.01615
NM_001145809.2(MYH14):c.483G>A (p.Met161Ile) rs34773557 0.01615
NM_000092.5(COL4A4):c.2439A>T (p.Gly813=) rs34835657 0.01612
NM_015346.4(ZFYVE26):c.6987-3C>T rs76728509 0.01610
NM_006946.4(SPTBN2):c.5639G>A (p.Arg1880His) rs35532855 0.01604
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg) rs41291187 0.01596
NM_001458.5(FLNC):c.8121T>C (p.Ile2707=) rs28437296 0.01593
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=) rs142518033 0.01592
NM_004004.6(GJB2):c.-15C>T rs72561725 0.01589
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962 0.01586
NM_014855.3(AP5Z1):c.333G>C (p.Gln111His) rs11549840 0.01586
NM_024596.5(MCPH1):c.634G>A (p.Ala212Thr) rs2922828 0.01586
NM_194248.3(OTOF):c.3608A>G (p.Asn1203Ser) rs61740776 0.01584
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920 0.01583
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390 0.01583
NM_014855.3(AP5Z1):c.1197G>A (p.Glu399=) rs117666541 0.01579
NM_001267550.2(TTN):c.62178T>C (p.Thr20726=) rs72646847 0.01577
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=) rs80356578 0.01576
NM_198904.4(GABRG2):c.354G>A (p.Ala118=) rs61735412 0.01575
NM_198576.4(AGRN):c.4740C>T (p.Arg1580=) rs115019873 0.01570
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=) rs2230158 0.01567
NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln) rs112197217 0.01566
NM_001614.5(ACTG1):c.729C>T (p.Pro243=) rs2230159 0.01563
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly) rs41288773 0.01560
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) rs72647875 0.01559
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) rs2229616 0.01559
NM_198578.4(LRRK2):c.1182-4A>G rs7135747 0.01555
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val) rs12115566 0.01554
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala) rs6889939 0.01553
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys) rs80356569 0.01549
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) rs6725673 0.01548
NM_001458.5(FLNC):c.8118C>T (p.Leu2706=) rs28379666 0.01548
NM_025243.4(SLC19A3):c.42C>T (p.Tyr14=) rs34080459 0.01546
NM_000051.4(ATM):c.2193C>T (p.Tyr731=) rs2229019 0.01543
NM_000051.4(ATM):c.1636C>G (p.Leu546Val) rs2227924 0.01541
NM_000435.3(NOTCH3):c.6102C>T (p.Pro2034=) rs114887570 0.01539
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957 0.01539
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01532
NM_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808 0.01532
NM_201384.3(PLEC):c.9945C>T (p.Ser3315=) rs28657061 0.01532
NM_003900.5(SQSTM1):c.822G>C (p.Glu274Asp) rs55793208 0.01529
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val) rs9924241 0.01528
NM_001080476.3(GRXCR1):c.777C>T (p.Ser259=) rs61733348 0.01525
NM_002303.6(LEPR):c.3024A>G (p.Ser1008=) rs6413506 0.01523
NM_015346.4(ZFYVE26):c.5784T>C (p.Tyr1928=) rs34852231 0.01523
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=) rs17082422 0.01518
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val) rs56376197 0.01516
NM_018136.5(ASPM):c.7787T>C (p.Val2596Ala) rs79572771 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_023110.3(FGFR1):c.2187-6C>T rs4647904 0.01503
NM_001008537.3(NEXMIF):c.2598C>A (p.Ser866=) rs41298498 0.01502
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) rs17125721 0.01497
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe) rs33917087 0.01497
NM_182961.4(SYNE1):c.19989T>C (p.His6663=) rs61746395 0.01497
NM_004960.4(FUS):c.1156C>A (p.Arg386=) rs61733965 0.01496
NM_000085.5(CLCNKB):c.1877G>A (p.Cys626Tyr) rs143663847 0.01495
NM_004960.4(FUS):c.524-5C>T rs73530287 0.01495
NM_001267550.2(TTN):c.2781A>C (p.Thr927=) rs55892860 0.01493
NM_152564.5(VPS13B):c.9330+10T>A rs75904081 0.01493
NM_013275.6(ANKRD11):c.1020G>A (p.Thr340=) rs142539117 0.01490
NM_013275.6(ANKRD11):c.6924C>T (p.Gly2308=) rs146575027 0.01487
NM_015192.4(PLCB1):c.924A>G (p.Ser308=) rs6056003 0.01487
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318 0.01480
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01473
NM_201384.3(PLEC):c.1706G>A (p.Arg569Gln) rs3135103 0.01472
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291 0.01469
NM_005765.3(ATP6AP2):c.285G>A (p.Ser95=) rs34217273 0.01468
NM_001370298.3(FGD4):c.1954-8T>C rs115061722 0.01466
NM_001384140.1(PCDH15):c.546A>G (p.Gly182=) rs34164469 0.01464
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser) rs77121899 0.01460
NM_006415.4(SPTLC1):c.1255-7C>T rs7863487 0.01454
NM_000349.3(STAR):c.153G>A (p.Gln51=) rs72552290 0.01453
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213 0.01453
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) rs45555435 0.01452
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_005908.4(MANBA):c.2482G>A (p.Val828Ile) rs75826658 0.01449
NM_005529.7(HSPG2):c.7532C>T (p.Thr2511Ile) rs62642518 0.01448
NM_018943.3(TUBA8):c.816C>T (p.Tyr272=) rs2234332 0.01437
NM_002206.3(ITGA7):c.1965T>C (p.Cys655=) rs7971022 0.01436
NM_201384.3(PLEC):c.8012G>A (p.Arg2671Gln) rs28526657 0.01433
NM_003119.4(SPG7):c.2188A>G (p.Asn730Asp) rs35749032 0.01431
NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val) rs34070843 0.01430
NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly) rs35740585 0.01429
NM_020822.3(KCNT1):c.2943+6C>T rs28612938 0.01429
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01426
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val) rs16866391 0.01426
NM_001244008.2(KIF1A):c.2979C>T (p.Ala993=) rs116297894 0.01425
NM_000435.3(NOTCH3):c.2039G>A (p.Arg680His) rs10406745 0.01423
NM_018834.6(MATR3):c.1602+6A>G rs80036770 0.01423
NM_004977.3(KCNC3):c.1929C>T (p.Gly643=) rs111744086 0.01422
NM_032119.4(ADGRV1):c.11481T>C (p.Asp3827=) rs16869083 0.01418
NM_000747.3(CHRNB1):c.821-9C>T rs76001008 0.01413
NM_152743.4(BRAT1):c.1206C>T (p.Asp402=) rs7807895 0.01413
NM_001278064.2(GRM1):c.2651G>A (p.Gly884Glu) rs362936 0.01411
NM_002775.5(HTRA1):c.77G>A (p.Arg26Gln) rs190036021 0.01411
NM_207346.3(TSEN54):c.624-9G>A rs138719855 0.01410
NM_014363.6(SACS):c.7149C>T (p.Arg2383=) rs17078608 0.01409
NM_198994.3(TGM6):c.1342C>T (p.Arg448Trp) rs147979536 0.01406
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01405
NM_000447.3(PSEN2):c.185G>A (p.Arg62His) rs58973334 0.01404
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=) rs2303836 0.01401
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991 0.01397
NM_152705.3(POLR1D):c.278A>G (p.His93Arg) rs118191175 0.01394
NM_000051.4(ATM):c.2685A>G (p.Leu895=) rs3218687 0.01393
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230 0.01390
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_032119.4(ADGRV1):c.5304G>A (p.Glu1768=) rs41303346 0.01390
NM_201384.3(PLEC):c.4557G>A (p.Ser1519=) rs79705634 0.01389
NM_016630.7(SPG21):c.843C>T (p.Tyr281=) rs147428832 0.01388
NM_006005.3(WFS1):c.2469C>T (p.Ile823=) rs1801215 0.01386
NM_018136.5(ASPM):c.2751C>T (p.Ala917=) rs33987824 0.01382
NM_014855.3(AP5Z1):c.2379G>T (p.Thr793=) rs77393809 0.01379
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=) rs60824529 0.01375
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) rs1801158 0.01373
NM_133642.5(LARGE1):c.165G>C (p.Thr55=) rs63446460 0.01373
NM_005529.7(HSPG2):c.7035C>T (p.Ile2345=) rs2229484 0.01369
NM_014855.3(AP5Z1):c.281C>G (p.Ser94Cys) rs11549839 0.01367
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370 0.01365
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=) rs76894284 0.01359
NM_001059.3(TACR3):c.921A>C (p.Thr307=) rs34550211 0.01359
NM_001844.5(COL2A1):c.1266+7G>A rs41317915 0.01359
NM_000447.3(PSEN2):c.441C>T (p.Ser147=) rs114334281 0.01358
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435 0.01358
NM_001267550.2(TTN):c.10700G>A (p.Ser3567Asn) rs72955213 0.01357
NM_004369.4(COL6A3):c.9411T>C (p.Cys3137=) rs112290343 0.01356
NM_007126.5(VCP):c.18-5T>C rs114256093 0.01353
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile) rs16866457 0.01351
NM_006005.3(WFS1):c.9C>T (p.Ser3=) rs71524363 0.01350
NM_014363.6(SACS):c.6267G>A (p.Ser2089=) rs9550956 0.01350
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_181882.3(PRX):c.731C>T (p.Ala244Val) rs118071705 0.01346
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01345
NM_006950.3(SYN1):c.912C>T (p.Ala304=) rs62636605 0.01342
NM_014363.6(SACS):c.4188C>T (p.His1396=) rs61754477 0.01341
NM_002206.3(ITGA7):c.3031T>C (p.Leu1011=) rs17117879 0.01337
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val) rs55948748 0.01336
NM_004369.4(COL6A3):c.8822C>T (p.Ala2941Val) rs11903206 0.01334
NM_182961.4(SYNE1):c.22809C>T (p.Leu7603=) rs34630198 0.01334
NM_018075.5(ANO10):c.74A>C (p.Gln25Pro) rs112040665 0.01331
NM_182914.3(SYNE2):c.8597C>T (p.Thr2866Met) rs114508894 0.01330
NM_004562.3(PRKN):c.783A>G (p.Leu261=) rs9456711 0.01329
NM_144773.4(PROKR2):c.802C>T (p.Arg268Cys) rs78861628 0.01328
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595 0.01324
NM_001127222.2(CACNA1A):c.5739C>T (p.Ala1913=) rs16044 0.01323
NM_173660.5(DOK7):c.1317C>T (p.Ser439=) rs16844467 0.01323
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876 0.01322
NM_005529.7(HSPG2):c.8848G>A (p.Gly2950Arg) rs41266007 0.01322
NM_003850.3(SUCLA2):c.510A>G (p.Ala170=) rs35568795 0.01320
NM_001164508.2(NEB):c.20766C>T (p.Asp6922=) rs34555492 0.01319
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01316
NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln) rs17721059 0.01316
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_000466.3(PEX1):c.1671-7T>C rs74519968 0.01312
NM_004115.4(FGF14):c.481T>C (p.Leu161=) rs77082831 0.01311
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_006883.2(SHOX):c.653G>A (p.Arg218His) rs193072890 0.01306
NM_000110.4(DPYD):c.1236G>A (p.Glu412=) rs56038477 0.01305
NM_001378452.1(ITPR1):c.8166C>A (p.Gly2722=) rs73098087 0.01305
NM_001289808.2(CRYAB):c.165G>A (p.Leu55=) rs2228387 0.01303
NM_002087.4(GRN):c.55C>T (p.Arg19Trp) rs63750723 0.01303
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr) rs78183930 0.01302
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) rs116758271 0.01300
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01298
NM_000548.5(TSC2):c.3883+8C>G rs45517316 0.01297
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01296
NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=) rs34569226 0.01296
NM_016156.6(MTMR2):c.1634A>G (p.Asn545Ser) rs558018 0.01295
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285 0.01295
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=) rs8175351 0.01289
NM_000209.4(PDX1):c.162G>A (p.Leu54=) rs28509441 0.01287
NM_004999.4(MYO6):c.1176A>G (p.Thr392=) rs2273857 0.01287
NM_201384.3(PLEC):c.6577C>T (p.Leu2193=) rs28610521 0.01285
NM_021098.3(CACNA1H):c.546-10C>T rs35509671 0.01282
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val) rs3759873 0.01282
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_002296.4(LBR):c.843A>G (p.Val281=) rs61749339 0.01280
NM_021098.3(CACNA1H):c.93G>A (p.Glu31=) rs191613214 0.01279
NM_001097577.3(ANG):c.363A>T (p.Thr121=) rs2228653 0.01278
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu) rs11670799 0.01273
NM_002292.4(LAMB2):c.4774C>T (p.Arg1592Trp) rs61729458 0.01273
NM_001278064.2(GRM1):c.2185C>A (p.Pro729Thr) rs41305288 0.01271
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys) rs72646869 0.01270
NM_001330260.2(SCN8A):c.4779C>T (p.Val1593=) rs12301486 0.01269
NM_201384.3(PLEC):c.1374C>T (p.Thr458=) rs115081018 0.01267
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=) rs16866467 0.01263
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01258
NM_207346.3(TSEN54):c.1468C>T (p.Arg490Trp) rs144662042 0.01255
NM_001032221.6(STXBP1):c.38-3T>C rs138763389 0.01254
NM_182914.3(SYNE2):c.13266G>A (p.Gln4422=) rs34944385 0.01248
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813 0.01242
NM_001371623.1(TCOF1):c.1229C>T (p.Ser410Leu) rs114326915 0.01242
NM_152296.5(ATP1A3):c.2319T>C (p.Asn773=) rs61733017 0.01238
NM_005045.4(RELN):c.6671+8T>C rs362758 0.01237
NM_020247.5(COQ8A):c.63G>A (p.Ala21=) rs11549709 0.01235
NM_000360.4(TH):c.1278G>A (p.Thr426=) rs36097848 0.01234
NM_006950.3(SYN1):c.838-8T>G rs12394306 0.01234
NM_201384.3(PLEC):c.2217G>A (p.Gln739=) rs116612406 0.01234
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_002335.4(LRP5):c.4788C>T (p.Thr1596=) rs113442867 0.01233
NM_000497.4(CYP11B1):c.1353T>C (p.Leu451=) rs5316 0.01232
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01231
NM_001166114.2(PNPLA6):c.181G>C (p.Val61Leu) rs112732576 0.01227
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr) rs113155945 0.01225
NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg) rs11098943 0.01224
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816 0.01223
NM_001267550.2(TTN):c.2949C>T (p.Ile983=) rs56310516 0.01223
NM_001164508.2(NEB):c.3775-6T>C rs80232472 0.01222
NM_032409.3(PINK1):c.1426G>A (p.Glu476Lys) rs115477764 0.01222
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=) rs41276894 0.01215
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) rs5736 0.01206
NM_001130823.3(DNMT1):c.290A>G (p.His97Arg) rs16999593 0.01205
NM_002693.3(POLG):c.2254C>T (p.Leu752=) rs41564016 0.01204
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725 0.01203
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met) rs16866475 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_001848.3(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734 0.01202
NM_001126108.2(SLC12A3):c.3024C>T (p.Ile1008=) rs2289113 0.01198
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364 0.01193
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387 0.01193
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=) rs55977045 0.01192
NM_206933.4(USH2A):c.688G>A (p.Val230Met) rs45500891 0.01191
NM_013275.6(ANKRD11):c.372G>A (p.Thr124=) rs34016116 0.01190
NM_152564.5(VPS13B):c.10155G>A (p.Glu3385=) rs115369860 0.01189
NM_201384.3(PLEC):c.7110C>T (p.Ala2370=) rs80143277 0.01189
NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His) rs145911138 0.01187
NM_006096.4(NDRG1):c.306C>T (p.Gly102=) rs2233322 0.01186
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949 0.01184
NM_000092.5(COL4A4):c.2717-5A>T rs1800519 0.01182
NM_001367561.1(DOCK7):c.2471T>C (p.Ile824Thr) rs35400360 0.01182
NM_198578.4(LRRK2):c.867C>T (p.Asn289=) rs17490713 0.01182
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu) rs79708848 0.01180
NM_032409.3(PINK1):c.1173T>C (p.Asp391=) rs45499398 0.01177
NM_005045.4(RELN):c.3839G>A (p.Gly1280Glu) rs55689103 0.01176
NM_001278064.2(GRM1):c.2785G>A (p.Val929Ile) rs2941 0.01171
NM_173500.4(TTBK2):c.3669C>T (p.His1223=) rs74398902 0.01170
NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn) rs151315725 0.01166
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134 0.01166
NM_001614.5(ACTG1):c.177G>A (p.Gln59=) rs11549220 0.01161
NM_001166114.2(PNPLA6):c.2706C>T (p.Gly902=) rs113264142 0.01159
NM_006946.4(SPTBN2):c.885+5T>C rs114331192 0.01156
NM_012431.3(SEMA3E):c.900T>C (p.Asn300=) rs28505908 0.01156
NM_006096.4(NDRG1):c.507G>A (p.Ala169=) rs2233331 0.01155
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro) rs62621206 0.01151
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371 0.01150
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr) rs55880440 0.01150
NM_201384.3(PLEC):c.2305-10del rs142120912 0.01150
NM_001122659.3(EDNRB):c.561C>T (p.Ile187=) rs5349 0.01149
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01149
NM_014254.3(RXYLT1):c.469G>A (p.Val157Ile) rs114036100 0.01144
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=) rs114145817 0.01143
NM_024740.2(ALG9):c.764C>T (p.Ser255Leu) rs17113312 0.01141
UGT1A1*6 rs4148323 0.01140
NM_018941.4(CLN8):c.274C>T (p.His92Tyr) rs34030778 0.01138
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=) rs67041405 0.01136
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) rs41303257 0.01136
NM_001909.5(CTSD):c.189C>T (p.Thr63=) rs114051835 0.01135
NM_032119.4(ADGRV1):c.7293C>T (p.Ala2431=) rs77791584 0.01133
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser) rs72629779 0.01130
NM_005591.4(MRE11):c.1994+10G>A rs1805366 0.01130
NM_182961.4(SYNE1):c.22516A>G (p.Ser7506Gly) rs35763277 0.01123
NM_004782.4(SNAP29):c.-8C>G rs186825747 0.01122
NM_005912.3(MC4R):c.594C>T (p.Ile198=) rs61741819 0.01121
NM_201384.3(PLEC):c.7266C>T (p.Leu2422=) rs117306121 0.01118
NM_001371623.1(TCOF1):c.4053G>A (p.Ser1351=) rs114169102 0.01117
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=) rs72648935 0.01116
NM_201384.3(PLEC):c.3192C>T (p.Arg1064=) rs73377210 0.01114
NM_000478.6(ALPL):c.1542G>T (p.Ala514=) rs3200256 0.01113
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167 0.01110
NM_003119.4(SPG7):c.2295C>T (p.Asp765=) rs61747712 0.01110
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352 0.01109
NM_005529.7(HSPG2):c.5997+5G>C rs59720663 0.01104
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile) rs72650028 0.01102
NM_176787.5(PIGN):c.167C>T (p.Ala56Val) rs61755362 0.01101
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=) rs73419228 0.01100
NM_032119.4(ADGRV1):c.7945+6C>T rs139278305 0.01100
NM_001164508.2(NEB):c.18113A>G (p.Asn6038Ser) rs16830236 0.01099
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr) rs35727744 0.01099
NM_182914.3(SYNE2):c.9023T>C (p.Ile3008Thr) rs115969845 0.01097
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu) rs77853750 0.01096
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046 0.01096
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691 0.01093
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met) rs55865284 0.01093
NM_182961.4(SYNE1):c.26209G>A (p.Gly8737Ser) rs2295191 0.01093
NM_006946.4(SPTBN2):c.234G>A (p.Val78=) rs78309877 0.01092
NM_006946.4(SPTBN2):c.1011T>G (p.Leu337=) rs34275473 0.01090
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) rs59291670 0.01088
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr) rs111033530 0.01088
NM_006623.4(PHGDH):c.792+6T>G rs146953046 0.01087
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233 0.01086
NM_182961.4(SYNE1):c.10522T>C (p.Leu3508=) rs62426382 0.01086
NM_000051.4(ATM):c.735C>T (p.Val245=) rs3218674 0.01085
NM_004369.4(COL6A3):c.4727G>A (p.Arg1576Gln) rs61729839 0.01085
NM_001379180.1(ESRRB):c.1300G>A (p.Val434Ile) rs146351534 0.01082
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073 0.01080
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856 0.01079
NM_000070.3(CAPN3):c.2433T>C (p.Val811=) rs28364543 0.01076
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_014159.7(SETD2):c.4872T>A (p.Ser1624=) rs75763513 0.01071
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555 0.01070
NM_173660.5(DOK7):c.782G>A (p.Arg261His) rs16844460 0.01070
NM_000497.4(CYP11B1):c.743C>T (p.Thr248Ile) rs34620645 0.01064
NM_001267550.2(TTN):c.36489G>A (p.Ala12163=) rs115493456 0.01063
NM_032119.4(ADGRV1):c.5747C>T (p.Thr1916Ile) rs35791889 0.01061
NM_005045.4(RELN):c.1799C>T (p.Ser600Phe) rs78008536 0.01060
NM_020451.3(SELENON):c.583G>A (p.Ala195Thr) rs115852080 0.01060
NM_018136.5(ASPM):c.2805T>C (p.Ser935=) rs113161395 0.01058
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu) rs61733587 0.01055
NM_001164508.2(NEB):c.23495C>T (p.Thr7832Ile) rs34368668 0.01053
NM_000834.5(GRIN2B):c.2691C>T (p.Asn897=) rs35125534 0.01050
NM_001083961.2(WDR62):c.1642+8C>T rs143309981 0.01050
NM_024577.4(SH3TC2):c.477T>A (p.Ser159=) rs77574155 0.01050
NM_000451.4(SHOX):c.870G>A (p.Leu290=) rs746391025 0.01047
NM_198578.4(LRRK2):c.4937T>C (p.Met1646Thr) rs35303786 0.01047
NM_201384.3(PLEC):c.5477G>A (p.Arg1826Gln) rs147838690 0.01046
NM_000360.4(TH):c.1200+9C>T rs11564717 0.01045
NM_014855.3(AP5Z1):c.379G>A (p.Glu127Lys) rs115454162 0.01044
NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=) rs76576806 0.01043
NM_201384.3(PLEC):c.10058G>C (p.Gly3353Ala) rs35261863 0.01041
NM_001378452.1(ITPR1):c.2305A>G (p.Met769Val) rs35789999 0.01040
NM_001367561.1(DOCK7):c.1460A>G (p.Lys487Arg) rs72913293 0.01039
NM_182914.3(SYNE2):c.19639A>G (p.Ile6547Val) rs45453691 0.01034
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=) rs73036373 0.01031
NM_002160.4(TNC):c.2620A>G (p.Ile874Val) rs61737743 0.01031
NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=) rs41292143 0.01031
NM_005477.3(HCN4):c.1683C>A (p.Gly561=) rs62641690 0.01030
NM_001101362.3(KBTBD13):c.1197C>T (p.Arg399=) rs150830358 0.01029
NM_001267550.2(TTN):c.11019C>T (p.Cys3673=) rs72955212 0.01027
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) rs41317925 0.01027
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=) rs56375087 0.01024
NM_002968.3(SALL1):c.3872A>G (p.Asn1291Ser) rs74499562 0.01024
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala) rs16019 0.01021
NM_001077365.2(POMT1):c.1125C>T (p.His375=) rs35242383 0.01019
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01016
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_012233.3(RAB3GAP1):c.1325A>G (p.Tyr442Cys) rs114901298 0.01014
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314 0.01013
NM_000352.6(ABCC8):c.423G>A (p.Val141=) rs116132921 0.01009
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 0.01006
NM_207346.3(TSEN54):c.1328C>G (p.Ser443Cys) rs150169668 0.01005
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102 0.01003
NM_000388.4(CASR):c.2610G>A (p.Glu870=) rs143738711 0.01002
NM_001079802.2(FKTN):c.42G>A (p.Thr14=) rs78794935 0.01002
NM_173500.4(TTBK2):c.2592A>G (p.Glu864=) rs56307230 0.01001
NM_001079802.2(FKTN):c.106-10G>A rs148384394 0.01000
NM_001164508.2(NEB):c.21519C>T (p.Ser7173=) rs16830170 0.01000
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723 0.01000
NM_182914.3(SYNE2):c.16639G>A (p.Asp5547Asn) rs17179194 0.00998
NM_004006.3(DMD):c.1225A>T (p.Thr409Ser) rs34155804 0.00993
NM_003361.4(UMOD):c.538C>G (p.Leu180Val) rs187555378 0.00991
NM_032119.4(ADGRV1):c.11031C>T (p.Asn3677=) rs75480336 0.00991
NM_024884.3(L2HGDH):c.840A>G (p.Pro280=) rs72683923 0.00989
NM_001127644.2(GABRA1):c.96A>G (p.Gln32=) rs76224028 0.00988
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile) rs72646850 0.00987
NM_030962.4(SBF2):c.4533A>G (p.Thr1511=) rs79251068 0.00986
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val) rs142735148 0.00983
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141 0.00982
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln) rs121912497 0.00981
NM_001166114.2(PNPLA6):c.3094-5C>T rs116788699 0.00980
NM_001244008.2(KIF1A):c.2385C>T (p.Ala795=) rs62637652 0.00979
NM_014363.6(SACS):c.12762C>T (p.Ser4254=) rs11554397 0.00978
NM_000352.6(ABCC8):c.4119+18A>G rs75967811 0.00977
NM_004646.4(NPHS1):c.1930+10C>T rs76131336 0.00977
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00977
NM_014855.3(AP5Z1):c.1708-5C>T rs184752711 0.00977
NM_201384.3(PLEC):c.10986C>T (p.Thr3662=) rs35134741 0.00977
NM_001853.4(COL9A3):c.308G>A (p.Arg103Gln) rs142639450 0.00974
NM_201384.3(PLEC):c.2832C>T (p.Gly944=) rs145050858 0.00974
NM_000231.3(SGCG):c.435C>T (p.Asn145=) rs35628352 0.00973
NM_001164508.2(NEB):c.18555G>A (p.Lys6185=) rs145252235 0.00972
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln) rs34819099 0.00971
NM_012233.3(RAB3GAP1):c.357A>G (p.Val119=) rs73959261 0.00970
NM_005529.7(HSPG2):c.831C>T (p.Pro277=) rs41310388 0.00969
NM_007325.5(GRIA3):c.1501-8T>A rs139058646 0.00969
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=) rs62636653 0.00967
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys) rs12471771 0.00967
NM_012301.4(MAGI2):c.2379C>T (p.Leu793=) rs73703715 0.00966
NM_152743.4(BRAT1):c.1867G>A (p.Gly623Ser) rs77015302 0.00966
NM_004562.3(PRKN):c.957T>C (p.Gly319=) rs144340740 0.00965
NM_017433.5(MYO3A):c.3028G>A (p.Glu1010Lys) rs61729833 0.00965
NM_024884.3(L2HGDH):c.99G>T (p.Arg33Ser) rs35710558 0.00965
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) rs9378252 0.00964
NM_000336.3(SCNN1B):c.1162C>T (p.Arg388Cys) rs61729788 0.00962
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=) rs16866423 0.00962
NM_007325.5(GRIA3):c.15G>A (p.Lys5=) rs61740996 0.00962
NM_015346.4(ZFYVE26):c.5612G>A (p.Cys1871Tyr) rs61746722 0.00962
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln) rs112545413 0.00960
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) rs35706972 0.00959
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762 0.00959
NM_001101362.3(KBTBD13):c.794G>A (p.Gly265Asp) rs146917406 0.00958
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu) rs111347025 0.00958
NM_021098.3(CACNA1H):c.6939C>T (p.Pro2313=) rs59385968 0.00957
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439 0.00956
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu) rs74518295 0.00953
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00953
NM_018136.5(ASPM):c.7917A>G (p.Lys2639=) rs112647911 0.00953
NM_018136.5(ASPM):c.7353G>A (p.Leu2451=) rs111487086 0.00949
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) rs35889956 0.00948
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) rs61748766 0.00948
NM_021098.3(CACNA1H):c.6234C>T (p.Cys2078=) rs59844753 0.00947
NM_004006.3(DMD):c.6322C>T (p.Arg2108Cys) rs16990169 0.00945
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00944
NM_033305.3(VPS13A):c.5917G>A (p.Val1973Ile) rs41289969 0.00944
NM_001144997.2(ITGA7):c.38C>T (p.Thr13Ile) rs11171663 0.00943
NM_014946.4(SPAST):c.879G>A (p.Pro293=) rs145264166 0.00943
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) rs199644078 0.00939
NM_016341.4(PLCE1):c.2124G>A (p.Val708=) rs61751496 0.00939
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415 0.00938
NM_001164508.2(NEB):c.21044C>G (p.Ser7015Cys) rs62167164 0.00935
NM_017668.3(NDE1):c.572C>T (p.Thr191Ile) rs113493697 0.00935
NM_014363.6(SACS):c.10305T>C (p.Ser3435=) rs35670472 0.00933
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754 0.00930
NM_001166114.2(PNPLA6):c.1704C>G (p.Pro568=) rs62111288 0.00930
NM_001166114.2(PNPLA6):c.3603G>A (p.Gln1201=) rs112133109 0.00930
NM_021098.3(CACNA1H):c.1120-8C>T rs59091981 0.00928
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala) rs61755434 0.00926
NM_020686.6(ABAT):c.603+3G>A rs41312254 0.00925
NM_020988.3(GNAO1):c.723+4099G>A rs116277860 0.00925
NM_001378452.1(ITPR1):c.2433T>A (p.Ile811=) rs145220403 0.00924
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_021942.6(TRAPPC11):c.1422-3G>A rs73872662 0.00921
NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg) rs111449472 0.00921
NM_201384.3(PLEC):c.8489A>G (p.Tyr2830Cys) rs199720608 0.00920
NM_000336.3(SCNN1B):c.1781C>T (p.Thr594Met) rs1799979 0.00918
NM_001843.4(CNTN1):c.2324G>A (p.Ser775Asn) rs34326474 0.00918
NM_182961.4(SYNE1):c.18801C>T (p.Thr6267=) rs116007471 0.00917
NM_001077365.2(POMT1):c.78G>A (p.Gly26=) rs149554732 0.00916
NM_182961.4(SYNE1):c.12057G>A (p.Ala4019=) rs144596829 0.00916
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) rs62178963 0.00915
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00915
NM_001164508.2(NEB):c.11769T>C (p.Ile3923=) rs80320923 0.00914
NM_153766.3(KCNJ1):c.199A>G (p.Thr67Ala) rs41302407 0.00914
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_001151.4(SLC25A4):c.567T>C (p.Ala189=) rs149101873 0.00911
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=) rs145776888 0.00910
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu) rs72629787 0.00909
NM_182961.4(SYNE1):c.9165C>A (p.Ser3055=) rs117020413 0.00908
NM_005413.4(SIX3):c.525G>A (p.Gln175=) rs116680477 0.00907
NM_016373.4(WWOX):c.885G>A (p.Arg295=) rs79771882 0.00905
NM_001100.4(ACTA1):c.453C>A (p.Thr151=) rs76030344 0.00904
NM_004070.4(CLCNKA):c.2055T>C (p.Ala685=) rs371202740 0.00904
NM_021942.6(TRAPPC11):c.832-9A>G rs114748616 0.00904
NM_182961.4(SYNE1):c.23743G>A (p.Asp7915Asn) rs76699382 0.00904
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) rs117942457 0.00902
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=) rs41274568 0.00902
NM_007254.4(PNKP):c.1127-8C>T rs3739203 0.00901
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00899
NM_015192.4(PLCB1):c.2413+9C>T rs138442805 0.00899
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala) rs150047904 0.00899
NM_005881.4(BCKDK):c.845+10C>T rs74015068 0.00898
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) rs72648960 0.00893
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747 0.00892
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214 0.00892
NM_000500.9(CYP21A2):c.*12C>T rs150697472 0.00890
NM_001164508.2(NEB):c.10347+6C>T rs141088433 0.00890
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=) rs139524103 0.00890
NM_194248.3(OTOF):c.710+10C>T rs55639868 0.00890
NM_000548.5(TSC2):c.4990-7C>T rs45457095 0.00888
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00888
NM_015346.4(ZFYVE26):c.1844C>T (p.Ser615Phe) rs117228915 0.00888
NM_021942.6(TRAPPC11):c.145G>C (p.Val49Leu) rs141909783 0.00888
NM_000070.3(CAPN3):c.73C>T (p.His25Tyr) rs61735534 0.00885
NM_021098.3(CACNA1H):c.4635C>T (p.Phe1545=) rs58110336 0.00885
NM_001059.3(TACR3):c.857A>G (p.Lys286Arg) rs2276973 0.00877
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=) rs62151609 0.00877
NM_020975.6(RET):c.375C>A (p.Val125=) rs1800859 0.00877
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala) rs78266558 0.00877
NM_003919.3(SGCE):c.1253+814G>A rs183951730 0.00875
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235 0.00873
NM_014159.7(SETD2):c.3249A>C (p.Thr1083=) rs80241480 0.00871
NM_005529.7(HSPG2):c.5442G>A (p.Leu1814=) rs115087461 0.00870
NM_014159.7(SETD2):c.2543C>T (p.Ala848Val) rs75248784 0.00870
NM_018979.4(WNK1):c.5468C>T (p.Pro1823Leu) rs17755373 0.00870
NM_000023.4(SGCA):c.528C>T (p.Thr176=) rs1801190 0.00868
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104 0.00867
NM_015559.3(SETBP1):c.4129G>C (p.Val1377Leu) rs77518617 0.00867
NM_033305.3(VPS13A):c.5979C>T (p.Arg1993=) rs41289971 0.00867
NM_000426.4(LAMA2):c.8548-10T>C rs113644365 0.00865
NM_003900.5(SQSTM1):c.961C>T (p.Arg321Cys) rs140226523 0.00865
NM_001854.4(COL11A1):c.4606C>G (p.Pro1536Ala) rs139064549 0.00862
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
NM_000478.6(ALPL):c.1381G>A (p.Val461Ile) rs34810399 0.00860
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_000426.4(LAMA2):c.9123C>T (p.Val3041=) rs61749497 0.00858
NM_004526.4(MCM2):c.1186G>A (p.Ala396Thr) rs3087450 0.00858
NM_177550.5(SLC13A5):c.1101A>G (p.Leu367=) rs61520357 0.00855
NM_001008212.2(OPTN):c.627-10T>C rs80327830 0.00853
NM_006009.4(TUBA1A):c.1008G>A (p.Lys336=) rs11829764 0.00853
NM_005529.7(HSPG2):c.1167C>T (p.Asp389=) rs145101074 0.00852
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843 0.00850
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=) rs73025979 0.00850
NM_001164508.2(NEB):c.8335A>G (p.Ile2779Val) rs114853127 0.00849
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_001164508.2(NEB):c.19311C>T (p.Ser6437=) rs16830216 0.00846
NM_002693.3(POLG):c.2109C>A (p.Ala703=) rs2307429 0.00845
NM_001853.4(COL9A3):c.520-6C>T rs45476191 0.00844
NM_002055.5(GFAP):c.96T>C (p.Gly32=) rs60045579 0.00844
NM_001195248.2(APTX):c.318C>T (p.Asn106=) rs79254654 0.00842
NM_012188.5(FOXI1):c.1014G>A (p.Ala338=) rs55685928 0.00841
NM_182961.4(SYNE1):c.10022T>C (p.Val3341Ala) rs138693624 0.00841
NM_005529.7(HSPG2):c.10702G>A (p.Val3568Ile) rs115616224 0.00839
NM_001330078.2(NRXN1):c.772+1140G>A rs61658382 0.00837
NM_001384140.1(PCDH15):c.475-3C>T rs41304641 0.00837
NM_005529.7(HSPG2):c.13119C>T (p.Pro4373=) rs2229477 0.00837
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_024596.5(MCPH1):c.1738A>G (p.Ser580Gly) rs17076894 0.00834
NM_198576.4(AGRN):c.1528G>A (p.Gly510Ser) rs138288952 0.00834
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625 0.00829
NM_006096.4(NDRG1):c.199A>G (p.Met67Val) rs2233319 0.00829
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) rs55861600 0.00828
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750 0.00828
NM_020919.4(ALS2):c.4581-7A>G rs114458388 0.00827
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr) rs191886831 0.00826
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=) rs72646893 0.00826
NM_001267550.2(TTN):c.79689C>A (p.Val26563=) rs10185798 0.00826
NM_015346.4(ZFYVE26):c.2826G>A (p.Met942Ile) rs117367857 0.00826
NM_012233.3(RAB3GAP1):c.2463C>T (p.Phe821=) rs61748693 0.00825
NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His) rs79486252 0.00823
NM_001244008.2(KIF1A):c.184-10C>T rs7594776 0.00820
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721 0.00820
NM_176787.5(PIGN):c.2712T>G (p.Phe904Leu) rs34231046 0.00820
NM_006946.4(SPTBN2):c.3686A>G (p.His1229Arg) rs114788199 0.00819
NM_182914.3(SYNE2):c.16305G>A (p.Leu5435=) rs116758464 0.00817
NM_000080.4(CHRNE):c.1017C>G (p.Ser339=) rs114454383 0.00816
NM_001077365.2(POMT1):c.1826-7C>A rs148180760 0.00816
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213 0.00811
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301 0.00809
NM_000484.4(APP):c.2133C>A (p.Val711=) rs116650065 0.00808
NM_001079802.2(FKTN):c.166-6A>G rs41277795 0.00808
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596 0.00808
NM_018136.5(ASPM):c.5185C>T (p.Arg1729Trp) rs41299623 0.00808
NM_001083961.2(WDR62):c.2991C>T (p.Ala997=) rs77898819 0.00804
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) rs61910685 0.00804
NM_001126108.2(SLC12A3):c.2964G>A (p.Ser988=) rs35082264 0.00802
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172 0.00801
NM_013296.5(GPSM2):c.1820C>T (p.Ser607Phe) rs35322815 0.00800
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=) rs56310931 0.00799
NM_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868 0.00799
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007 0.00798
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala) rs79182085 0.00798
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744 0.00795
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=) rs148275339 0.00793
NM_001164508.2(NEB):c.24208-7C>T rs113048349 0.00793
NM_000478.6(ALPL):c.1119C>T (p.Thr373=) rs112335417 0.00792
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406 0.00792
NM_016239.4(MYO15A):c.6796G>A (p.Val2266Met) rs114274755 0.00791
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) rs149055334 0.00789
NM_002693.3(POLG):c.3561G>C (p.Arg1187=) rs62640037 0.00787
NM_001458.5(FLNC):c.6771A>G (p.Pro2257=) rs34422412 0.00786
NM_002693.3(POLG):c.3644-9A>G rs115048121 0.00785
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093 0.00784
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287 0.00784
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240 0.00782
NM_001292063.2(OTOG):c.4606C>T (p.Leu1536Phe) rs117380920 0.00782
NM_194248.3(OTOF):c.2025G>A (p.Glu675=) rs61746988 0.00782
NM_001845.6(COL4A1):c.4005C>T (p.Gly1335=) rs140722653 0.00781
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala) rs25647 0.00781
NM_002739.5(PRKCG):c.1722C>T (p.Tyr574=) rs34616316 0.00781
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=) rs150761878 0.00781
NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=) rs144845223 0.00779
NM_018100.4(EFHC1):c.662G>A (p.Arg221His) rs79761183 0.00778
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=) rs141844887 0.00776
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387 0.00775
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356 0.00774
NM_006005.3(WFS1):c.1308C>T (p.Thr436=) rs71539646 0.00773
NM_018136.5(ASPM):c.7023C>T (p.Ile2341=) rs115891952 0.00773
NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met) rs34741387 0.00772
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054 0.00771
NM_002693.3(POLG):c.3597C>A (p.Thr1199=) rs2307443 0.00770
NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met) rs78461695 0.00769
NM_000702.4(ATP1A2):c.129G>A (p.Lys43=) rs61734527 0.00766
NM_021942.6(TRAPPC11):c.270G>C (p.Leu90=) rs60142264 0.00766
NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=) rs61753382 0.00763
NM_004999.4(MYO6):c.1120T>C (p.Tyr374His) rs61732664 0.00762
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_023110.3(FGFR1):c.600C>T (p.Asp200=) rs17175898 0.00761
NM_182961.4(SYNE1):c.156T>C (p.Asp52=) rs139156106 0.00761
NM_003793.4(CTSF):c.1368C>T (p.Asp456=) rs148155987 0.00759
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534 0.00759
NM_002296.4(LBR):c.90C>T (p.His30=) rs2230416 0.00758
NM_003793.4(CTSF):c.939G>A (p.Gly313=) rs114727660 0.00758
NM_130837.3(OPA1):c.2961C>T (p.Arg987=) rs35540805 0.00758
NM_153026.3(PRICKLE1):c.374T>C (p.Val125Ala) rs34837068 0.00758
NM_001267550.2(TTN):c.42219C>T (p.Phe14073=) rs150612172 0.00757
NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu) rs114207045 0.00755
NM_018100.4(EFHC1):c.1893C>T (p.Tyr631=) rs35648306 0.00755
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu) rs143414291 0.00754
NM_130837.3(OPA1):c.2049A>G (p.Val683=) rs73069703 0.00753
NM_018979.4(WNK1):c.2020A>G (p.Thr674Ala) rs11833299 0.00751
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu) rs112812685 0.00750
NM_014141.6(CNTNAP2):c.1308C>T (p.Asn436=) rs79039458 0.00749
NM_018979.4(WNK1):c.684C>T (p.Gly228=) rs72647374 0.00748
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871 0.00746
NM_001130987.2(DYSF):c.1380+6G>C rs75796187 0.00745
NM_001267550.2(TTN):c.37722T>C (p.Val12574=) rs377422414 0.00745
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469 0.00744
NM_004621.6(TRPC6):c.2088C>T (p.Asn696=) rs61739601 0.00743
NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=) rs111033429 0.00742
NM_004782.4(SNAP29):c.130T>C (p.Tyr44His) rs116644127 0.00741
NM_000334.4(SCN4A):c.3441+7G>A rs142270113 0.00738
NM_170707.4(LMNA):c.438C>T (p.Ala146=) rs80356805 0.00738
NM_001330078.2(NRXN1):c.3408G>A (p.Thr1136=) rs80094872 0.00737
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg) rs148398509 0.00737
NM_000231.3(SGCG):c.*10G>A rs139369964 0.00736
NM_001077365.2(POMT1):c.1826-6C>A rs140258585 0.00735
NM_003793.4(CTSF):c.1261C>T (p.Arg421Trp) rs28464796 0.00735
NM_000141.5(FGFR2):c.294G>A (p.Thr98=) rs1047101 0.00734
NM_000306.4(POU1F1):c.666-5G>A rs76296626 0.00734
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile) rs35707762 0.00734
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His) rs111033470 0.00732
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00731
NM_194248.3(OTOF):c.98G>A (p.Arg33Gln) rs56332208 0.00731
NM_198994.3(TGM6):c.1103G>A (p.Arg368Gln) rs75122556 0.00731
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr) rs141933811 0.00728
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys) rs146953558 0.00728
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=) rs74321406 0.00724
NM_014159.7(SETD2):c.557C>T (p.Pro186Leu) rs78759480 0.00723
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00722
NM_012301.4(MAGI2):c.2329T>C (p.Leu777=) rs76346657 0.00722
NM_015192.4(PLCB1):c.458A>T (p.Glu153Val) rs45496299 0.00721
NM_000426.4(LAMA2):c.1403C>G (p.Ala468Gly) rs111695726 0.00720
NM_001009944.3(PKD1):c.3513C>G (p.Thr1171=) rs143784787 0.00720
NM_153676.4(USH1C):c.2547-8A>G rs78509055 0.00720
NM_018136.5(ASPM):c.5629G>A (p.Ala1877Thr) rs112230218 0.00719
NM_001267550.2(TTN):c.63026G>A (p.Arg21009Gln) rs72646851 0.00718
NM_001365999.1(SZT2):c.2631C>T (p.Thr877=) rs140831372 0.00717
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys) rs141703710 0.00717
NM_198578.4(LRRK2):c.3784C>G (p.Pro1262Ala) rs4640000 0.00717
NM_001244008.2(KIF1A):c.3852T>C (p.His1284=) rs184931664 0.00715
NM_021098.3(CACNA1H):c.3175G>T (p.Ala1059Ser) rs41292285 0.00715
NM_004369.4(COL6A3):c.1791C>T (p.Phe597=) rs76576170 0.00714
NM_004519.4(KCNQ3):c.1551C>T (p.Ala517=) rs35538317 0.00714
NM_032806.6(POMGNT2):c.1384C>T (p.Arg462Trp) rs147175064 0.00713
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=) rs9657022 0.00712
NM_001127222.2(CACNA1A):c.7431C>T (p.Tyr2477=) rs16059 0.00712
NM_032119.4(ADGRV1):c.13037C>T (p.Pro4346Leu) rs74632023 0.00712
NM_201378.4(PLEC):c.71-11718C>T rs190222339 0.00712
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) rs112469769 0.00709
NM_013275.6(ANKRD11):c.4872G>A (p.Ala1624=) rs143426579 0.00709
NM_000500.9(CYP21A2):c.939+11G>C rs6442 0.00708
NM_001365999.1(SZT2):c.759G>A (p.Ser253=) rs1889586 0.00708
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_020686.6(ABAT):c.1269+4A>C rs183947905 0.00708
NM_001379110.1(SLC9A6):c.1662-4G>A rs188072063 0.00707
NM_002180.3(IGHMBP2):c.2782G>A (p.Glu928Lys) rs2275996 0.00707
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716 0.00706
NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu) rs112571971 0.00706
NM_001009944.3(PKD1):c.11523C>T (p.Asn3841=) rs113369380 0.00705
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302 0.00705
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn) rs78268395 0.00705
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=) rs45464693 0.00705
NM_024570.4(RNASEH2B):c.822+6T>C rs76413207 0.00705
NM_007262.5(PARK7):c.293G>A (p.Arg98Gln) rs71653619 0.00704
NM_024411.5(PDYN):c.575A>T (p.Glu192Val) rs45469293 0.00704
NM_001267550.2(TTN):c.57462G>A (p.Gln19154=) rs72646832 0.00703
NM_001267550.2(TTN):c.57464G>A (p.Arg19155Lys) rs72646833 0.00702
NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His) rs114095081 0.00702
NM_001267550.2(TTN):c.24160A>T (p.Ile8054Leu) rs72648976 0.00701
NM_015346.4(ZFYVE26):c.5678G>T (p.Ser1893Ile) rs34952009 0.00701
NM_001127222.2(CACNA1A):c.462C>T (p.Ala154=) rs1800039 0.00699
NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser) rs116716038 0.00699
NM_005529.7(HSPG2):c.3292G>A (p.Ala1098Thr) rs2501264 0.00699
NM_005619.5(RTN2):c.792C>A (p.Phe264Leu) rs61745812 0.00699
NM_213599.3(ANO5):c.1545A>G (p.Ser515=) rs35843353 0.00699
NM_000070.3(CAPN3):c.939G>A (p.Pro313=) rs78369269 0.00698
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895 0.00698
NM_024411.5(PDYN):c.436A>C (p.Met146Leu) rs77155664 0.00698
NM_001166114.2(PNPLA6):c.2133G>A (p.Leu711=) rs113335442 0.00696
NM_001278064.2(GRM1):c.3107G>T (p.Gly1036Val) rs144944927 0.00695
NM_000540.3(RYR1):c.7281C>T (p.Ala2427=) rs77310009 0.00694
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_006922.4(SCN3A):c.5670T>C (p.Pro1890=) rs73969174 0.00694
NM_021625.5(TRPV4):c.2433G>C (p.Ser811=) rs34071623 0.00694
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165 0.00694
NM_031443.4(CCM2):c.866G>A (p.Ser289Asn) rs2289366 0.00694
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=) rs62639702 0.00693
NM_015559.3(SETBP1):c.4398G>T (p.Glu1466Asp) rs117498128 0.00693
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg) rs192925278 0.00691
NM_014363.6(SACS):c.8127A>C (p.Lys2709Asn) rs78827970 0.00691
NM_198576.4(AGRN):c.5598C>T (p.Thr1866=) rs17778478 0.00691
NM_001164508.2(NEB):c.2832C>T (p.Ser944=) rs114076205 0.00690
NM_001292063.2(OTOG):c.1797G>A (p.Arg599=) rs73418068 0.00690
NM_014874.4(MFN2):c.957C>T (p.Gly319=) rs41278632 0.00690
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722 0.00690
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=) rs41266697 0.00686
NM_152564.5(VPS13B):c.5517G>A (p.Gln1839=) rs61742808 0.00685
NM_016373.4(WWOX):c.754C>G (p.Pro252Ala) rs75559202 0.00684
NM_198994.3(TGM6):c.42G>A (p.Ser14=) rs149394698 0.00684
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656 0.00682
NM_000092.5(COL4A4):c.198A>G (p.Pro66=) rs147947155 0.00681
NM_000088.4(COL1A1):c.904-9G>T rs141726413 0.00680
NM_001848.3(COL6A1):c.3054C>T (p.His1018=) rs141237809 0.00680
NM_005529.7(HSPG2):c.9719C>T (p.Ala3240Val) rs62642505 0.00677
NM_201384.3(PLEC):c.11940C>T (p.Ile3980=) rs148865812 0.00677
NM_000092.5(COL4A4):c.666G>A (p.Pro222=) rs111945121 0.00676
NM_000336.3(SCNN1B):c.1543-17C>T rs35074083 0.00676
NM_001242896.3(DEPDC5):c.2139A>G (p.Leu713=) rs16989536 0.00675
NM_152743.4(BRAT1):c.962T>G (p.Leu321Arg) rs150942467 0.00675
NM_016373.4(WWOX):c.613C>A (p.His205Asn) rs74860463 0.00674
NM_022464.5(SIL1):c.239A>G (p.Gln80Arg) rs35581768 0.00674
NM_198576.4(AGRN):c.67G>C (p.Val23Leu) rs201073369 0.00674
NM_021008.4(DEAF1):c.1634C>G (p.Ala545Gly) rs34114147 0.00673
NM_001164508.2(NEB):c.6069G>A (p.Met2023Ile) rs184262608 0.00672
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=) rs117485827 0.00672
NM_198994.3(TGM6):c.1126G>A (p.Ala376Thr) rs79724097 0.00672
NM_001267550.2(TTN):c.81057T>C (p.Thr27019=) rs114908705 0.00671
NM_001845.6(COL4A1):c.4640+8G>A rs117566874 0.00671
NM_005529.7(HSPG2):c.7296A>T (p.Ala2432=) rs2229485 0.00669
NM_194248.3(OTOF):c.145C>T (p.Arg49Trp) rs61746568 0.00669
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00668
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423 0.00667
NM_001029896.2(WDR45):c.838G>A (p.Val280Met) rs149509552 0.00667
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met) rs77351975 0.00667
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=) rs72648258 0.00667
NM_007126.5(VCP):c.1082-9G>T rs12349922 0.00667
NM_021098.3(CACNA1H):c.2631C>T (p.Asp877=) rs59636120 0.00667
NM_001008537.3(NEXMIF):c.151C>A (p.Pro51Thr) rs145018752 0.00666
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008 0.00665
NM_022124.6(CDH23):c.2337G>A (p.Lys779=) rs111033461 0.00664
NM_005619.5(RTN2):c.1593C>T (p.Ala531=) rs148630935 0.00663
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=) rs139815570 0.00662
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505 0.00661
NM_001271.4(CHD2):c.1788T>C (p.Tyr596=) rs144093014 0.00660
NM_012233.3(RAB3GAP1):c.913A>G (p.Ile305Val) rs116775947 0.00658
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00658
NM_001365999.1(SZT2):c.7573G>A (p.Val2525Ile) rs139486476 0.00657
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) rs2229474 0.00657
NM_015295.3(SMCHD1):c.1689G>A (p.Leu563=) rs78073508 0.00657
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) rs151091241 0.00657
NM_201384.3(PLEC):c.4635G>A (p.Ala1545=) rs76426116 0.00655
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585 0.00654
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394 0.00652
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00651
NM_201384.3(PLEC):c.9966C>T (p.Val3322=) rs35613096 0.00651
NM_004230.4(S1PR2):c.857T>C (p.Val286Ala) rs117064827 0.00650
NM_022173.4(TIA1):c.1086G>A (p.Pro362=) rs72902461 0.00650
NM_201384.3(PLEC):c.9435C>T (p.Asp3145=) rs60091617 0.00650
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile) rs1800060 0.00649
NM_000447.3(PSEN2):c.861C>T (p.Pro287=) rs75733498 0.00649
NM_005677.4(COLQ):c.1108G>A (p.Asp370Asn) rs116373583 0.00649
NM_018136.5(ASPM):c.3742-10T>G rs41299587 0.00649
NM_182961.4(SYNE1):c.14107G>A (p.Asp4703Asn) rs116000545 0.00649
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422 0.00648
NM_198576.4(AGRN):c.3465T>C (p.Ala1155=) rs146358566 0.00648
NM_201384.3(PLEC):c.4223C>T (p.Ala1408Val) rs111851716 0.00648
NM_001164508.2(NEB):c.8189A>G (p.Asp2730Gly) rs76767949 0.00646
NM_001278064.2(GRM1):c.3214C>G (p.Pro1072Ala) rs146753539 0.00646
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr) rs151181674 0.00646
NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=) rs112955915 0.00645
NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu) rs142948530 0.00645
NM_004082.5(DCTN1):c.3529+5G>A rs72466494 0.00644
NM_001009944.3(PKD1):c.8964G>A (p.Ala2988=) rs76184385 0.00641
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys) rs28626194 0.00641
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00640
NM_004393.6(DAG1):c.259A>G (p.Ile87Val) rs116717961 0.00640
NM_018319.4(TDP1):c.911G>A (p.Arg304Gln) rs34452707 0.00640
NM_001292063.2(OTOG):c.3351G>A (p.Pro1117=) rs146781877 0.00639
NM_018136.5(ASPM):c.1987G>T (p.Ala663Ser) rs113611857 0.00638
NM_001009944.3(PKD1):c.4071G>T (p.Leu1357=) rs145737766 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_004614.5(TK2):c.94C>T (p.Arg32Trp) rs200121712 0.00636
NM_021098.3(CACNA1H):c.1513C>T (p.Arg505Cys) rs60414549 0.00636
NM_000337.6(SGCD):c.507G>A (p.Ala169=) rs10071079 0.00635
NM_015046.7(SETX):c.7905C>T (p.Ala2635=) rs112201716 0.00633
NM_182961.4(SYNE1):c.3890C>T (p.Ala1297Val) rs35378260 0.00633
NM_001267550.2(TTN):c.99111T>C (p.Tyr33037=) rs77257306 0.00632
NM_031844.3(HNRNPU):c.2169C>T (p.Ala723=) rs11537737 0.00632
NM_024665.7(TBL1XR1):c.669A>G (p.Pro223=) rs61750378 0.00631
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119 0.00631
NM_001080414.4(CCDC88C):c.4433T>C (p.Val1478Ala) rs201222692 0.00627
NM_001243133.2(NLRP3):c.1231C>T (p.Leu411=) rs148478875 0.00627
NM_001849.4(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828 0.00627
NM_004369.4(COL6A3):c.4285+9G>A rs75780727 0.00626
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00625
NM_001379110.1(SLC9A6):c.474T>C (p.Ser158=) rs144316388 0.00625
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170 0.00625
NM_152743.4(BRAT1):c.1884C>T (p.Ala628=) rs142346283 0.00625
NM_002055.5(GFAP):c.738G>A (p.Ala246=) rs147404772 0.00624
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00623
NM_006623.4(PHGDH):c.595C>G (p.Leu199Val) rs77632964 0.00622
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=) rs138477292 0.00622
NM_000447.3(PSEN2):c.756G>C (p.Ala252=) rs147702142 0.00621
NM_004562.3(PRKN):c.136G>A (p.Ala46Thr) rs75860381 0.00621
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile) rs142271930 0.00621
NM_000170.3(GLDC):c.2919+3A>G rs73639325 0.00620
NM_018319.4(TDP1):c.302C>T (p.Pro101Leu) rs35455108 0.00620
NM_000540.3(RYR1):c.3326G>A (p.Arg1109Lys) rs35719391 0.00619
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) rs138407503 0.00618
NM_025243.4(SLC19A3):c.309G>A (p.Val103=) rs142837989 0.00618
NM_000726.5(CACNB4):c.1303-3T>C rs143442080 0.00617
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His) rs1046166 0.00617
NM_201384.3(PLEC):c.13110C>T (p.Ala4370=) rs187810163 0.00617
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289 0.00616
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) rs16020 0.00616
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=) rs16026 0.00616
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=) rs56181243 0.00615
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509 0.00615
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843 0.00613
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe) rs34618570 0.00613
NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu) rs116890187 0.00613
NM_018100.4(EFHC1):c.1224C>T (p.Asp408=) rs116134831 0.00613
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408 0.00611
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser) rs143736974 0.00611
NM_001267550.2(TTN):c.42156C>T (p.Ile14052=) rs76815324 0.00610
NM_021098.3(CACNA1H):c.6273C>T (p.Ala2091=) rs59297244 0.00610
NM_182914.3(SYNE2):c.2026A>G (p.Lys676Glu) rs78191145 0.00610
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728 0.00609
NM_005529.7(HSPG2):c.3056C>T (p.Pro1019Leu) rs62642528 0.00609
NM_203446.3(SYNJ1):c.*611C>T rs76056543 0.00609
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro) rs4988111 0.00608
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) rs185002960 0.00608
NM_017882.3(CLN6):c.298-6C>T rs117038427 0.00608
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00606
NM_182961.4(SYNE1):c.9764C>T (p.Ser3255Leu) rs114954026 0.00606
NM_001379500.1(COL18A1):c.107-12656C>T rs7277693 0.00605
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr) rs62625033 0.00605
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00603
NM_001378609.3(OTOGL):c.5710G>A (p.Asp1904Asn) rs145653077 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_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) rs35493783 0.00602
NM_001367561.1(DOCK7):c.4696G>A (p.Gly1566Ser) rs147103646 0.00601
NM_058246.4(DNAJB6):c.899-6C>T rs78337193 0.00601
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00600
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile) rs145125791 0.00600
NM_000051.4(ATM):c.4042T>C (p.Leu1348=) rs56355831 0.00599
NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr) rs36083134 0.00599
NM_001365999.1(SZT2):c.4701G>A (p.Leu1567=) rs111932993 0.00598
NM_153026.3(PRICKLE1):c.2304C>G (p.Ser768=) rs35854729 0.00598
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=) rs146072491 0.00597
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00597
NM_001365999.1(SZT2):c.6543A>G (p.Leu2181=) rs112461557 0.00596
NM_012301.4(MAGI2):c.276C>G (p.Pro92=) rs146012909 0.00596
NM_152263.4(TPM3):c.92A>C (p.Lys31Thr) rs62000429 0.00596
NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His) rs59915619 0.00594
NM_018136.5(ASPM):c.3741+3A>G rs138558822 0.00594
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser) rs16866477 0.00593
NM_021098.3(CACNA1H):c.2881C>T (p.Leu961=) rs58615599 0.00591
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys) rs77675624 0.00591
NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser) rs116621885 0.00589
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser) rs76537615 0.00586
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu) rs116307796 0.00586
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala) rs56385601 0.00586
NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr) rs72648946 0.00585
NM_022089.4(ATP13A2):c.1195+10G>A rs55689004 0.00585
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338 0.00584
NM_006012.4(CLPP):c.368-8G>A rs143053584 0.00583
NM_182914.3(SYNE2):c.5517A>T (p.Leu1839Phe) rs35883188 0.00583
NM_021625.5(TRPV4):c.810G>A (p.Gly270=) rs147558344 0.00582
NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp) rs80297119 0.00582
NM_182914.3(SYNE2):c.2934A>G (p.Glu978=) rs34001379 0.00582
NM_014855.3(AP5Z1):c.2230G>A (p.Ala744Thr) rs183580097 0.00581
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly) rs141014950 0.00580
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro) rs28730852 0.00579
NM_016373.4(WWOX):c.358C>T (p.Arg120Trp) rs141361080 0.00579
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834 0.00578
NM_001330078.2(NRXN1):c.3249C>T (p.Pro1083=) rs116236999 0.00578
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444 0.00577
NM_130837.3(OPA1):c.420G>T (p.Val140=) rs35801538 0.00577
NM_152743.4(BRAT1):c.866G>C (p.Cys289Ser) rs140451075 0.00577
NM_153766.3(KCNJ1):c.252G>A (p.Ala84=) rs149563706 0.00576
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=) rs45624133 0.00575
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly) rs77602559 0.00575
NM_005529.7(HSPG2):c.10045C>G (p.Leu3349Val) rs75843082 0.00575
NM_173354.5(SIK1):c.1463-7C>T rs142866662 0.00575
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His) rs73969684 0.00574
NM_033305.3(VPS13A):c.6410A>G (p.Glu2137Gly) rs114232513 0.00574
NM_005619.5(RTN2):c.1143G>A (p.Ala381=) rs45532933 0.00572
NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu) rs33971253 0.00570
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975 0.00570
NM_181882.3(PRX):c.133C>G (p.Arg45Gly) rs115090201 0.00569
NM_000051.4(ATM):c.186-7C>T rs55674039 0.00568
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324 0.00568
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769 0.00567
NM_020247.5(COQ8A):c.291C>T (p.Ser97=) rs111529228 0.00567
NM_023110.3(FGFR1):c.345C>T (p.Ser115=) rs2915665 0.00567
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=) rs72646857 0.00566
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445 0.00566
NM_014855.3(AP5Z1):c.791-5C>T rs73671921 0.00565
NM_201384.3(PLEC):c.9423C>T (p.Gly3141=) rs61529674 0.00565
NM_000540.3(RYR1):c.4719G>A (p.Pro1573=) rs35480887 0.00563
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn) rs35865691 0.00562
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818 0.00559
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) rs147975335 0.00559
NM_001009944.3(PKD1):c.11537+3_11537+5dup rs201204878 0.00559
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=) rs138123155 0.00559
NM_001267550.2(TTN):c.24471C>T (p.Gly8157=) rs113391261 0.00559
NM_001367721.1(CASK):c.2040-9A>G rs138290714 0.00559
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460 0.00559
NM_033305.3(VPS13A):c.5673G>A (p.Ser1891=) rs114699935 0.00559
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424 0.00558
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_000426.4(LAMA2):c.4437-5T>A rs41285288 0.00557
NM_001130987.2(DYSF):c.3337C>T (p.Arg1113Cys) rs141536854 0.00557
NM_032634.4(PIGO):c.1473G>C (p.Leu491=) rs76932500 0.00557
NM_001145026.2(PTPRQ):c.5061T>C (p.Pro1687=) rs186848048 0.00556
NM_014208.3(DSPP):c.1259T>C (p.Val420Ala) rs191967636 0.00555
NM_000297.4(PKD2):c.570G>T (p.Ala190=) rs541702320 0.00554
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe) rs147122501 0.00554
NM_001195248.2(APTX):c.596G>A (p.Arg199His) rs150886026 0.00552
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln) rs111475461 0.00551
NM_005619.5(RTN2):c.444C>G (p.Gly148=) rs139232850 0.00550
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg) rs34132016 0.00549
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738 0.00548
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573 0.00548
NM_001371623.1(TCOF1):c.2762C>T (p.Pro921Leu) rs150515843 0.00548
NM_005591.4(MRE11):c.2092A>G (p.Met698Val) rs1805362 0.00548
NM_014141.6(CNTNAP2):c.1247C>T (p.Ala416Val) rs34456867 0.00548
NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=) rs41316723 0.00547
NM_000426.4(LAMA2):c.4470C>T (p.Asp1490=) rs35089085 0.00547
NM_004817.4(TJP2):c.61-7344G>C rs73450853 0.00547
NM_030665.4(RAI1):c.4512G>T (p.Leu1504=) rs117995220 0.00547
NM_001845.6(COL4A1):c.393G>A (p.Glu131=) rs34458255 0.00546
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=) rs148493518 0.00546
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00546
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=) rs72650003 0.00545
NM_001292063.2(OTOG):c.8542-8C>T rs182750732 0.00545
NM_000085.5(CLCNKB):c.1297+5G>T rs35351345 0.00544
NM_001126108.2(SLC12A3):c.1539C>T (p.Tyr513=) rs146805986 0.00544
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_000091.5(COL4A3):c.1398T>C (p.Asp466=) rs145833114 0.00542
NM_001159699.2(FHL1):c.204+5C>T rs182106777 0.00542
NM_002693.3(POLG):c.1636C>T (p.Arg546Cys) rs2307447 0.00542
NM_021625.5(TRPV4):c.1744C>T (p.Leu582=) rs35078611 0.00542
NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala) rs35884879 0.00541
NM_198904.4(GABRG2):c.360G>A (p.Thr120=) rs77298346 0.00541
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu) rs115913736 0.00540
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=) rs148157556 0.00539
NM_032229.3(SLITRK6):c.2195G>A (p.Gly732Glu) rs74591375 0.00539
NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser) rs73113975 0.00536
NM_198576.4(AGRN):c.5025C>T (p.Gly1675=) rs147990356 0.00536
NM_018943.3(TUBA8):c.250C>T (p.Arg84Cys) rs115847686 0.00535
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_001128840.3(CACNA1D):c.3892C>T (p.Pro1298Ser) rs72556360 0.00534
NM_002529.4(NTRK1):c.2272G>A (p.Ala758Thr) rs62640939 0.00534
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) rs149840356 0.00534
NM_001267550.2(TTN):c.39709+6C>T rs72650067 0.00533
NM_001113491.2(SEPTIN9):c.1573+9C>T rs148975193 0.00531
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891 0.00530
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=) rs149796549 0.00530
NM_000400.4(ERCC2):c.1238-1155C>G rs41275762 0.00529
NM_001367561.1(DOCK7):c.1392A>G (p.Pro464=) rs116172511 0.00529
NM_006946.4(SPTBN2):c.6669G>A (p.Gly2223=) rs138819654 0.00529
NM_014625.4(NPHS2):c.182C>T (p.Ala61Val) rs201050491 0.00529
NM_182914.3(SYNE2):c.14430A>G (p.Thr4810=) rs34248042 0.00527
NM_203290.4(POLR1C):c.634A>G (p.Met212Val) rs79222964 0.00527
NM_000297.4(PKD2):c.2134T>C (p.Leu712=) rs73841280 0.00526
NM_000540.3(RYR1):c.2241G>A (p.Leu747=) rs34097444 0.00526
NM_001370298.3(FGD4):c.1971C>T (p.Ile657=) rs61748364 0.00526
NM_021098.3(CACNA1H):c.5493C>T (p.Tyr1831=) rs60218977 0.00526
NM_182914.3(SYNE2):c.16522T>A (p.Ser5508Thr) rs35190322 0.00526
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys) rs181067717 0.00525
NM_003919.3(SGCE):c.391-79G>T rs545885131 0.00525
NM_024589.3(ROGDI):c.713G>A (p.Arg238His) rs138409264 0.00525
NM_000336.3(SCNN1B):c.282C>T (p.Ala94=) rs139950628 0.00524
NM_000447.3(PSEN2):c.1176C>T (p.Phe392=) rs115652716 0.00524
NM_213599.3(ANO5):c.2354T>G (p.Leu785Arg) rs146136277 0.00524
NM_000834.5(GRIN2B):c.3498C>T (p.Ser1166=) rs45600931 0.00523
NM_001126108.2(SLC12A3):c.774C>T (p.Asn258=) rs111578437 0.00523
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp) rs63750412 0.00523
NM_001293298.2(CEMIP):c.1231C>G (p.Leu411Val) rs144349326 0.00522
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg) rs17109261 0.00521
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=) rs76707931 0.00520
NM_012188.5(FOXI1):c.726C>T (p.Ser242=) rs35678180 0.00520
NM_001845.6(COL4A1):c.4203C>T (p.Asp1401=) rs141714960 0.00519
NM_004463.3(FGD1):c.2757G>A (p.Ala919=) rs61734180 0.00519
NM_025137.4(SPG11):c.993C>T (p.Ser331=) rs76823973 0.00519
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465 0.00518
NM_022489.4(INF2):c.3108T>C (p.Leu1036=) rs186075307 0.00518
NM_201384.3(PLEC):c.3351C>T (p.Ala1117=) rs145376880 0.00518
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=) rs144538918 0.00517
NM_198576.4(AGRN):c.1123G>T (p.Ala375Ser) rs138031468 0.00517
NM_001009944.3(PKD1):c.8187G>A (p.Ser2729=) rs28674911 0.00516
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His) rs56044609 0.00516
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=) rs45559331 0.00516
NM_030962.4(SBF2):c.4096C>T (p.Pro1366Ser) rs115927577 0.00516
NM_173660.5(DOK7):c.1204C>T (p.Arg402Trp) rs149905649 0.00516
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00515
NM_002087.4(GRN):c.264+7G>A rs60100877 0.00514
NM_000287.4(PEX6):c.330C>G (p.Thr110=) rs140486558 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_182914.3(SYNE2):c.17561T>C (p.Leu5854Pro) rs117070973 0.00512
NM_004839.4(HOMER2):c.764A>G (p.Glu255Gly) rs79448007 0.00511
NM_021098.3(CACNA1H):c.4983C>A (p.Val1661=) rs61382101 0.00511
NM_032634.4(PIGO):c.2040G>C (p.Leu680=) rs41274877 0.00511
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_007327.4(GRIN1):c.1584G>A (p.Glu528=) rs116006955 0.00510
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=) rs35450031 0.00509
NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr) rs148164067 0.00508
NM_000091.5(COL4A3):c.4380T>C (p.Cys1460=) rs114430490 0.00507
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=) rs41313687 0.00507
NM_001009944.3(PKD1):c.8439C>T (p.Ser2813=) rs117856830 0.00507
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164 0.00507
NM_005045.4(RELN):c.6084C>T (p.Gly2028=) rs114019779 0.00507
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile) rs140990288 0.00507
NM_033109.5(PNPT1):c.1251G>A (p.Gly417=) rs146111948 0.00507
NM_178012.5(TUBB2B):c.703G>A (p.Gly235Arg) rs587784500 0.00507
NM_000092.5(COL4A4):c.2907A>C (p.Ser969=) rs116354015 0.00506
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513 0.00506
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795 0.00506
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_022089.4(ATP13A2):c.453C>T (p.Ser151=) rs55979991 0.00505
NM_022124.6(CDH23):c.1449+76C>A rs41281304 0.00505
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446 0.00504
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr) rs56404770 0.00503
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=) rs79970751 0.00503
NM_201384.3(PLEC):c.9925C>T (p.Arg3309Cys) rs77303974 0.00503
NM_000335.5(SCN5A):c.3508+10C>T rs41258454 0.00502
NM_031475.3(ESPN):c.2070G>A (p.Ser690=) rs142850918 0.00502
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00501
NM_031844.3(HNRNPU):c.141C>T (p.Ala47=) rs111518952 0.00501
NM_000166.6(GJB1):c.-77G>A rs190676487 0.00500
NM_201384.3(PLEC):c.3869A>G (p.Lys1290Arg) rs200895043 0.00500
NM_020919.4(ALS2):c.4764G>A (p.Ala1588=) rs35110478 0.00499
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=) rs113282901 0.00497
NM_001267550.2(TTN):c.42024+6T>C rs140002940 0.00497
NM_002578.5(PAK3):c.276+2659T>C rs142890115 0.00497
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327 0.00496
NM_001378452.1(ITPR1):c.6510+7T>C rs115430385 0.00496
NM_013382.7(POMT2):c.652G>A (p.Asp218Asn) rs140785104 0.00496
NM_000209.4(PDX1):c.-18C>T rs193922351 0.00495
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=) rs115623439 0.00495
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser) rs78239814 0.00495
NM_014625.4(NPHS2):c.87C>G (p.Ala29=) rs12123397 0.00495
NM_000360.4(TH):c.579C>T (p.Gly193=) rs147852210 0.00494
NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=) rs139544500 0.00494
NM_002055.5(GFAP):c.720G>T (p.Thr240=) rs2229012 0.00494
NM_006158.5(NEFL):c.667C>T (p.Leu223=) rs60156239 0.00494
NM_022124.6(CDH23):c.6687C>T (p.Asp2229=) rs76463072 0.00494
NM_024577.4(SH3TC2):c.2691C>G (p.Asn897Lys) rs73795753 0.00494
NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu) rs148425392 0.00493
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met) rs59286323 0.00493
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val) rs72782753 0.00493
NM_001330078.2(NRXN1):c.2421C>T (p.Asn807=) rs115211871 0.00492
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713 0.00491
NM_005629.4(SLC6A8):c.1496-5C>T rs200695210 0.00491
NM_006420.3(ARFGEF2):c.423+3A>G rs2295029 0.00491
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629 0.00491
NM_006306.4(SMC1A):c.699G>A (p.Val233=) rs145319852 0.00488
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=) rs17849927 0.00488
NM_004999.4(MYO6):c.2982G>A (p.Glu994=) rs55905349 0.00487
NM_000070.3(CAPN3):c.318C>T (p.Cys106=) rs117609395 0.00486
NM_032119.4(ADGRV1):c.9607T>A (p.Ser3203Thr) rs116480183 0.00486
NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr) rs115324397 0.00485
NM_002775.5(HTRA1):c.337G>T (p.Ala113Ser) rs140088745 0.00485
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186 0.00485
NM_022089.4(ATP13A2):c.2093T>C (p.Val698Ala) rs61734958 0.00485
NM_000540.3(RYR1):c.873G>A (p.Ala291=) rs2229140 0.00484
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=) rs141338915 0.00484
NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys) rs138139146 0.00483
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=) rs11904444 0.00481
NM_002156.5(HSPD1):c.27C>G (p.Arg9=) rs11551349 0.00481
NM_000338.3(SLC12A1):c.2296-6G>T rs34047900 0.00478
NM_000540.3(RYR1):c.5565C>T (p.Gly1855=) rs61750975 0.00478
NM_001048166.1(STIL):c.3378A>G (p.Arg1126=) rs142315727 0.00478
NM_173500.4(TTBK2):c.2133C>A (p.Phe711Leu) rs76000738 0.00477
NM_004614.5(TK2):c.231+10C>T rs187517309 0.00476
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00475
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710 0.00475
NM_198994.3(TGM6):c.-2A>G rs80329336 0.00475
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_014855.3(AP5Z1):c.369T>C (p.Gly123=) rs182431279 0.00474
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=) rs62427038 0.00474
NM_001126108.2(SLC12A3):c.2083G>A (p.Gly695Arg) rs36031476 0.00473
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984 0.00473
NM_000451.4(SHOX):c.63C>T (p.Gly21=) rs142306835 0.00472
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995 0.00472
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala) rs146292575 0.00472
NM_001267550.2(TTN):c.12233C>T (p.Thr4078Ile) rs80136515 0.00471
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_015346.4(ZFYVE26):c.6588+7C>T rs186040735 0.00471
NM_021098.3(CACNA1H):c.2265C>T (p.Gly755=) rs61073355 0.00471
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691 0.00471
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val) rs141441058 0.00470
NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=) rs41289636 0.00470
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=) rs145806603 0.00468
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923 0.00468
NM_001267550.2(TTN):c.38323C>T (p.Leu12775Phe) rs186232617 0.00468
NM_004320.6(ATP2A1):c.663C>G (p.Gly221=) rs113803159 0.00468
NM_001292063.2(OTOG):c.2098G>A (p.Ala700Thr) rs113745835 0.00467
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu) rs145191932 0.00466
NM_001166114.2(PNPLA6):c.4078G>A (p.Gly1360Ser) rs145178162 0.00466
NM_018109.4(MTPAP):c.158-9C>T rs139217290 0.00466
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=) rs142131750 0.00466
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846 0.00466
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140 0.00465
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) rs1800217 0.00465
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=) rs9858585 0.00465
NM_001130987.2(DYSF):c.777C>T (p.Ile259=) rs138054675 0.00464
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met) rs2229381 0.00462
NM_004082.5(DCTN1):c.586A>G (p.Ile196Val) rs55862001 0.00462
NM_182914.3(SYNE2):c.7162G>A (p.Glu2388Lys) rs200842904 0.00462
NM_001083961.2(WDR62):c.2334-6C>A rs138928852 0.00461
NM_004977.3(KCNC3):c.984G>A (p.Pro328=) rs114192110 0.00461
NM_005529.7(HSPG2):c.1998+9C>T rs377228309 0.00461
NM_001048166.1(STIL):c.3786G>A (p.Thr1262=) rs146387723 0.00460
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser) rs144922355 0.00460
NM_002693.3(POLG):c.3198G>A (p.Thr1066=) rs61752780 0.00460
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu) rs34563188 0.00460
NM_001083961.2(WDR62):c.866A>G (p.Lys289Arg) rs12327568 0.00459
NM_001039141.3(TRIOBP):c.391G>A (p.Gly131Ser) rs144634857 0.00455
NM_024665.7(TBL1XR1):c.291A>G (p.Gln97=) rs61750379 0.00455
NM_004863.4(SPTLC2):c.1664C>T (p.Thr555Met) rs138652708 0.00454
NM_014141.6(CNTNAP2):c.1137C>T (p.Asn379=) rs78543192 0.00454
NM_130839.5(UBE3A):c.2124+9T>C rs79328837 0.00454
NM_001958.5(EEF1A2):c.1263C>T (p.Leu421=) rs115107511 0.00453
NM_003672.4(CDC14A):c.819C>G (p.Ala273=) rs28364884 0.00453
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro) rs13171868 0.00453
NM_001110556.2(FLNA):c.663C>T (p.Pro221=) rs2073470 0.00452
NM_203446.3(SYNJ1):c.6G>A (p.Ala2=) rs61750221 0.00452
NC_000007.14:g.129774728G>A rs73159662 0.00451
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=) rs17541519 0.00451
NM_003850.3(SUCLA2):c.256A>G (p.Ile86Val) rs61756204 0.00451
NM_006279.5(ST3GAL3):c.636C>T (p.Gly212=) rs12140044 0.00451
NM_181882.3(PRX):c.1216G>A (p.Ala406Thr) rs117336941 0.00451
NM_003119.4(SPG7):c.1032C>T (p.Gly344=) rs116319889 0.00450
NM_004369.4(COL6A3):c.7928C>T (p.Ala2643Val) rs111595697 0.00450
NM_005619.5(RTN2):c.351A>G (p.Gln117=) rs144028452 0.00450
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684 0.00449
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437 0.00449
NM_014845.6(FIG4):c.66+10C>T rs200063827 0.00449
NM_015046.7(SETX):c.1807A>G (p.Asn603Asp) rs116205032 0.00449
NM_025137.4(SPG11):c.4923G>C (p.Lys1641Asn) rs150218102 0.00449
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082 0.00448
NM_021942.6(TRAPPC11):c.2461G>A (p.Ala821Thr) rs114471872 0.00448
NM_153638.4(PANK2):c.276G>A (p.Arg92=) rs142832849 0.00448
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn) rs116567963 0.00447
NM_001540.5(HSPB1):c.36G>T (p.Arg12=) rs145369859 0.00447
NM_003793.4(CTSF):c.1158C>T (p.Asn386=) rs116329758 0.00447
NM_001267550.2(TTN):c.*6C>A rs188728343 0.00446
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) rs56086732 0.00446
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro) rs55720916 0.00446
NM_004975.4(KCNB1):c.1182G>A (p.Gly394=) rs77238446 0.00445
NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn) rs116826217 0.00445
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00445
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=) rs35647984 0.00445
NM_016373.4(WWOX):c.835C>T (p.Arg279Cys) rs77314072 0.00444
NM_001267550.2(TTN):c.3668C>T (p.Ala1223Val) rs78269740 0.00443
NM_002160.4(TNC):c.1342C>G (p.Arg448Gly) rs145086096 0.00442
NM_005045.4(RELN):c.5775A>G (p.Arg1925=) rs2711866 0.00442
NM_001365999.1(SZT2):c.8910C>T (p.Ser2970=) rs116536134 0.00441
NM_006946.4(SPTBN2):c.3282G>A (p.Pro1094=) rs114241603 0.00441
NM_032119.4(ADGRV1):c.5525-7C>T rs137853919 0.00440
NM_201384.3(PLEC):c.5165C>T (p.Thr1722Met) rs377665141 0.00440
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00439
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg) rs61754130 0.00437
NM_002047.4(GARS1):c.2190G>A (p.Glu730=) rs190132116 0.00437
NM_004733.4(SLC33A1):c.1482+7A>G rs149522913 0.00437
NM_001378452.1(ITPR1):c.4263C>G (p.His1421Gln) rs61757110 0.00436
NM_002473.6(MYH9):c.1083C>T (p.Asp361=) rs56001030 0.00436
NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg) rs73928330 0.00436
NM_005629.4(SLC6A8):c.1768-3C>T rs150207268 0.00435
NM_015404.4(WHRN):c.764G>A (p.Gly255Asp) rs79509430 0.00435
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_000088.4(COL1A1):c.750+12G>T rs79480112 0.00434
NM_000352.6(ABCC8):c.354C>T (p.Val118=) rs137873871 0.00434
NM_001145809.2(MYH14):c.2792G>A (p.Arg931His) rs200351672 0.00434
NM_015046.7(SETX):c.2672T>C (p.Val891Ala) rs148181729 0.00434
NM_006946.4(SPTBN2):c.2503G>A (p.Glu835Lys) rs36054877 0.00433
NM_001166114.2(PNPLA6):c.4073C>T (p.Pro1358Leu) rs116012798 0.00432
NM_004369.4(COL6A3):c.1182C>T (p.Thr394=) rs114750216 0.00432
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln) rs138787771 0.00432
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_000088.4(COL1A1):c.4281T>C (p.Ile1427=) rs41316725 0.00431
NM_001378030.1(CCDC78):c.889C>T (p.Arg297Cys) rs61998220 0.00431
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=) rs182847302 0.00430
NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala) rs34642406 0.00430
NM_001164508.2(NEB):c.5102T>C (p.Val1701Ala) rs117271684 0.00429
NM_001042517.2(DIAPH3):c.2317T>C (p.Phe773Leu) rs35579086 0.00428
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val) rs145401010 0.00428
NM_201384.3(PLEC):c.4366G>A (p.Val1456Met) rs186848953 0.00427
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr) rs56815840 0.00424
NM_013275.6(ANKRD11):c.5338G>A (p.Ala1780Thr) rs75362060 0.00424
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304 0.00423
NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln) rs61745465 0.00423
NM_015295.3(SMCHD1):c.*7A>G rs140650738 0.00423
NM_000540.3(RYR1):c.3972G>A (p.Ala1324=) rs200451188 0.00422
NM_014363.6(SACS):c.12597A>G (p.Pro4199=) rs112630127 0.00422
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891 0.00420
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00420
NM_000338.3(SLC12A1):c.71G>A (p.Ser24Asn) rs35342218 0.00419
NM_000391.4(TPP1):c.42C>A (p.Ile14=) rs35903915 0.00419
NM_001845.6(COL4A1):c.1701G>A (p.Pro567=) rs146480068 0.00419
NM_006946.4(SPTBN2):c.6099G>A (p.Glu2033=) rs150696057 0.00419
NM_021072.4(HCN1):c.1797A>G (p.Ser599=) rs148932124 0.00419
NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro) rs78501403 0.00417
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=) rs78795178 0.00417
NM_002296.4(LBR):c.1609T>G (p.Ser537Ala) rs80299691 0.00417
NM_014363.6(SACS):c.11688G>A (p.Arg3896=) rs116791509 0.00417
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00416
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023 0.00416
NM_000545.8(HNF1A):c.326+6_326+10dup rs56158114 0.00415
NM_012233.3(RAB3GAP1):c.1006C>T (p.Arg336Cys) rs150478342 0.00415
NM_001458.5(FLNC):c.1902G>A (p.Glu634=) rs12536635 0.00414
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00414
NM_032119.4(ADGRV1):c.4254T>C (p.Tyr1418=) rs149459739 0.00414
NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser) rs55816283 0.00413
NM_001009944.3(PKD1):c.5847C>T (p.Ser1949=) rs80111665 0.00413
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) rs61753725 0.00412
NM_178012.5(TUBB2B):c.609C>T (p.Asp203=) rs1054332 0.00412
NM_001384140.1(PCDH15):c.3502-8C>T rs184144118 0.00411
NM_004006.3(DMD):c.1718C>T (p.Ala573Val) rs5972599 0.00411
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00411
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895 0.00411
NM_201384.3(PLEC):c.854G>A (p.Arg285Gln) rs188076386 0.00411
NM_203446.3(SYNJ1):c.573A>G (p.Thr191=) rs61756694 0.00411
NM_001166114.2(PNPLA6):c.173T>C (p.Val58Ala) rs188353745 0.00410
NM_000069.3(CACNA1S):c.3953+7G>A rs141071505 0.00409
NM_005529.7(HSPG2):c.5756G>A (p.Arg1919His) rs62642521 0.00408
NM_175914.5(HNF4A):c.583-27G>A rs113495257 0.00408
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn) rs143070183 0.00408
NM_206933.4(USH2A):c.12817T>C (p.Tyr4273His) rs79654794 0.00408
NM_000335.5(SCN5A):c.717C>T (p.Ile239=) rs41285129 0.00407
NM_001113491.2(SEPTIN9):c.1574-10C>T rs192537441 0.00407
NM_001164508.2(NEB):c.2640C>T (p.Arg880=) rs114959904 0.00407
NM_001379500.1(COL18A1):c.2979A>C (p.Pro993=) rs575364982 0.00407
NM_015295.3(SMCHD1):c.1419A>G (p.Glu473=) rs117771893 0.00407
NM_001267550.2(TTN):c.59165T>C (p.Val19722Ala) rs116592778 0.00406
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln) rs35669708 0.00406
NM_005529.7(HSPG2):c.4132G>A (p.Glu1378Lys) rs62642525 0.00406
NM_198576.4(AGRN):c.4352C>T (p.Pro1451Leu) rs144620006 0.00406
NM_198994.3(TGM6):c.12C>G (p.Ile4Met) rs139796716 0.00406
NM_000170.3(GLDC):c.2113G>A (p.Val705Met) rs147275962 0.00405
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383 0.00405
NM_000089.4(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365 0.00404
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894 0.00404
NM_001292063.2(OTOG):c.8035C>T (p.Arg2679Cys) rs567966154 0.00404
NM_006772.3(SYNGAP1):c.1491T>C (p.Tyr497=) rs72887798 0.00404
NM_201384.3(PLEC):c.7074G>A (p.Ala2358=) rs146381488 0.00404
NM_201525.4(ADGRG1):c.844G>C (p.Gly282Arg) rs146704802 0.00404
NM_004924.6(ACTN4):c.2401G>A (p.Val801Met) rs141727248 0.00403
NM_024596.5(MCPH1):c.1845A>C (p.Thr615=) rs186547090 0.00403
NM_201384.3(PLEC):c.3682C>T (p.Arg1228Trp) rs144610086 0.00403
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599 0.00402
NM_018136.5(ASPM):c.5741A>G (p.Gln1914Arg) rs113325473 0.00402
NM_201384.3(PLEC):c.6757G>A (p.Ala2253Thr) rs62641756 0.00401
NM_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246 0.00400
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00400
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243 0.00400
NM_004646.4(NPHS1):c.1170+8G>A rs140808195 0.00400
NM_201384.3(PLEC):c.5304G>A (p.Leu1768=) rs186670912 0.00400
NM_001034116.2(EIF2B4):c.1392A>G (p.Gln464=) rs148810263 0.00399
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249 0.00399
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) rs55980069 0.00399
NM_015046.7(SETX):c.7371T>C (p.His2457=) rs113071480 0.00399
NM_021098.3(CACNA1H):c.1236C>T (p.Asn412=) rs59696308 0.00399
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu) rs74315344 0.00398
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006 0.00398
NM_000481.4(AMT):c.898A>G (p.Met300Val) rs144971200 0.00397
NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=) rs147336902 0.00397
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=) rs56151652 0.00397
NM_001330260.2(SCN8A):c.928+9C>T rs148027656 0.00397
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys) rs139367209 0.00396
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988 0.00396
NM_006420.3(ARFGEF2):c.1512G>A (p.Thr504=) rs116550473 0.00395
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=) rs140861713 0.00395
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=) rs35225609 0.00394
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00393
NM_013275.6(ANKRD11):c.5509C>T (p.Pro1837Ser) rs145906515 0.00393
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=) rs138259457 0.00391
NM_001376256.1(CRYM):c.807T>C (p.Phe269=) rs144588424 0.00391
NM_001378452.1(ITPR1):c.1480G>A (p.Val494Ile) rs41289628 0.00391
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00391
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp) rs201586455 0.00391
NM_000079.4(CHRNA1):c.643G>A (p.Asp215Asn) rs148304857 0.00390
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=) rs115631125 0.00390
NM_021098.3(CACNA1H):c.270C>G (p.Arg90=) rs577235589 0.00390
NM_182961.4(SYNE1):c.11756C>T (p.Ala3919Val) rs114367594 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_001852.4(COL9A2):c.1870+9T>C rs139929272 0.00389
NM_004369.4(COL6A3):c.2030G>A (p.Arg677His) rs35227432 0.00389
NM_001009944.3(PKD1):c.276G>A (p.Ala92=) rs374518168 0.00388
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033 0.00388
NM_001242896.3(DEPDC5):c.2856T>C (p.Cys952=) rs115299174 0.00386
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) rs201531206 0.00386
NM_175914.5(HNF4A):c.669A>G (p.Leu223=) rs139591750 0.00386
NM_001164508.2(NEB):c.1675-9T>G rs75118047 0.00385
NM_018319.4(TDP1):c.1705A>G (p.Thr569Ala) rs35973343 0.00385
NM_000193.4(SHH):c.301-163C>T rs4716913 0.00384
NM_022464.5(SIL1):c.189T>G (p.Asp63Glu) rs115591710 0.00384
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) rs61737145 0.00384
NM_001080414.4(CCDC88C):c.4889G>A (p.Arg1630His) rs115510695 0.00383
NM_001379110.1(SLC9A6):c.-57+50G>T rs201523857 0.00383
NM_004172.5(SLC1A3):c.792G>A (p.Gly264=) rs139659178 0.00383
NM_000089.4(COL1A2):c.2349+16G>C rs112603291 0.00382
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=) rs58820146 0.00381
NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=) rs190981860 0.00381
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00380
NM_004595.5(SMS):c.1026A>C (p.Ser342=) rs61732077 0.00380
NM_014231.5(VAMP1):c.*1630C>T rs71584837 0.00380
NM_001145809.2(MYH14):c.2763A>G (p.Lys921=) rs191788683 0.00379
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350 0.00379
NM_182961.4(SYNE1):c.6135T>G (p.Ile2045Met) rs116600265 0.00379
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) rs138171526 0.00378
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
NM_001286445.3(RIPOR2):c.1764T>C (p.Asn588=) rs145837095 0.00378
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His) rs41304892 0.00378
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272 0.00377
NM_012188.5(FOXI1):c.677C>T (p.Thr226Ile) rs115399307 0.00376
NM_198994.3(TGM6):c.1235G>A (p.Arg412His) rs142679146 0.00376
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=) rs146164139 0.00374
NM_201384.3(PLEC):c.5712C>T (p.Ser1904=) rs115735672 0.00374
NM_201384.3(PLEC):c.9895C>T (p.Arg3299Trp) rs142805337 0.00374
NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln) rs78889849 0.00373
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498 0.00372
NM_001130438.3(SPTAN1):c.5552C>T (p.Ala1851Val) rs11543347 0.00370
NM_182961.4(SYNE1):c.1983C>T (p.Asn661=) rs149670417 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_001008537.3(NEXMIF):c.3709A>T (p.Met1237Leu) rs61731613 0.00368
NM_018451.5(CPAP):c.1233G>A (p.Pro411=) rs112133852 0.00368
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00367
NM_003896.4(ST3GAL5):c.648C>T (p.Phe216=) rs149309844 0.00367
NM_001009944.3(PKD1):c.4263C>T (p.Ala1421=) rs149938033 0.00366
NM_001005361.3(DNM2):c.2543+7C>G rs201979143 0.00364
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325 0.00364
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00364
NM_006859.4(LIAS):c.57A>C (p.Arg19Ser) rs140921822 0.00364
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu) rs35473230 0.00364
NM_016630.7(SPG21):c.318T>C (p.Phe106=) rs147236778 0.00364
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382 0.00364
NM_006790.3(MYOT):c.1008G>T (p.Val336=) rs142828368 0.00363
NM_021098.3(CACNA1H):c.489G>C (p.Gln163His) rs60593994 0.00363
NM_133433.4(NIPBL):c.6109-3T>C rs145778995 0.00363
NM_001267550.2(TTN):c.34474C>A (p.Pro11492Thr) rs182428755 0.00362
NM_001005361.3(DNM2):c.236-8C>G rs143084059 0.00361
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) rs76675748 0.00361
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg) rs2229860 0.00361
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=) rs145955373 0.00360
NM_182961.4(SYNE1):c.1794A>C (p.Ser598=) rs141424852 0.00360
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys) rs146569520 0.00359
NM_015046.7(SETX):c.6108A>G (p.Gly2036=) rs35815657 0.00358
NM_201384.3(PLEC):c.5476C>T (p.Arg1826Trp) rs200575795 0.00358
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=) rs45586138 0.00357
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310 0.00357
NM_005529.7(HSPG2):c.1082C>A (p.Thr361Asn) rs75467696 0.00357
NM_018136.5(ASPM):c.3791G>A (p.Arg1264His) rs150125249 0.00357
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00356
NM_004006.3(DMD):c.3406A>T (p.Thr1136Ser) rs3827462 0.00356
NM_024577.4(SH3TC2):c.3362C>T (p.Ala1121Val) rs115577291 0.00356
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn) rs199839743 0.00356
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_152564.5(VPS13B):c.3243A>G (p.Pro1081=) rs34961653 0.00355
NM_000334.4(SCN4A):c.2645C>A (p.Pro882Gln) rs111858905 0.00354
NM_000335.5(SCN5A):c.1017C>T (p.Tyr339=) rs17215493 0.00354
NM_001243133.2(NLRP3):c.1389C>T (p.His463=) rs111400208 0.00354
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=) rs75094258 0.00354
NM_003919.3(SGCE):c.369G>C (p.Val123=) rs140913016 0.00354
NM_005045.4(RELN):c.7538C>G (p.Ser2513Cys) rs114647348 0.00354
NM_017668.3(NDE1):c.486C>T (p.Leu162=) rs140251634 0.00354
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172 0.00354
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_007254.4(PNKP):c.783G>A (p.Pro261=) rs145307985 0.00353
NM_032119.4(ADGRV1):c.3956G>A (p.Arg1319Gln) rs73181648 0.00353
NM_001009944.3(PKD1):c.10234C>T (p.Pro3412Ser) rs149605181 0.00352
NM_005477.3(HCN4):c.2657C>T (p.Ala886Val) rs200575377 0.00352
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) rs41313693 0.00351
NM_005529.7(HSPG2):c.2850T>C (p.Pro950=) rs115322282 0.00351
NM_020822.3(KCNT1):c.2376C>T (p.Asp792=) rs149028586 0.00351
NM_001195248.2(APTX):c.457A>G (p.Lys153Glu) rs34634937 0.00350
NM_021072.4(HCN1):c.140G>T (p.Gly47Val) rs544994462 0.00350
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245 0.00349
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703 0.00349
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=) rs45517354 0.00349
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116 0.00349
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923 0.00348
NM_000548.5(TSC2):c.948G>A (p.Pro316=) rs45517141 0.00348
NM_001130987.2(DYSF):c.1288G>A (p.Val430Met) rs144202114 0.00348
NM_001195263.2(PDZD7):c.572T>A (p.Val191Glu) rs118098246 0.00348
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858 0.00348
NM_000334.4(SCN4A):c.5190C>T (p.Cys1730=) rs113277954 0.00347
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys) rs72646861 0.00347
NM_002693.3(POLG):c.1126C>T (p.Leu376=) rs116165908 0.00347
NM_004006.3(DMD):c.802T>C (p.Leu268=) rs1800264 0.00347
NM_005529.7(HSPG2):c.11294G>A (p.Ser3765Asn) rs114223739 0.00347
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764 0.00347
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser) rs118203518 0.00346
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=) rs141557400 0.00346
NM_001164508.2(NEB):c.3412A>G (p.Asn1138Asp) rs117048449 0.00346
NM_153638.4(PANK2):c.137A>T (p.Asp46Val) rs148036492 0.00346
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152 0.00345
NM_014208.3(DSPP):c.1060C>T (p.Arg354Cys) rs61731011 0.00345
NM_080680.3(COL11A2):c.2520G>A (p.Arg840=) rs117237998 0.00345
NM_000091.5(COL4A3):c.4893C>T (p.Phe1631=) rs183218622 0.00344
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208 0.00344
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116 0.00343
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_000092.5(COL4A4):c.50A>G (p.Lys17Arg) rs114969026 0.00341
NM_014855.3(AP5Z1):c.1557A>G (p.Gln519=) rs201687417 0.00341
NM_194248.3(OTOF):c.2215-77T>G rs76130130 0.00341
NM_000089.4(COL1A2):c.975A>T (p.Gly325=) rs148063325 0.00340
NM_000426.4(LAMA2):c.6150T>C (p.Asp2050=) rs114766691 0.00339
NM_000484.4(APP):c.2124C>T (p.Gly708=) rs148888161 0.00339
NM_001080476.3(GRXCR1):c.272G>T (p.Gly91Val) rs113203706 0.00339
NM_001384474.1(LOXHD1):c.6034G>A (p.Glu2012Lys) rs79045813 0.00339
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu) rs140848350 0.00339
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_001292063.2(OTOG):c.3683C>T (p.Pro1228Leu) rs117005078 0.00338
NM_000089.4(COL1A2):c.3849T>C (p.Thr1283=) rs34038163 0.00337
NM_001365999.1(SZT2):c.7562T>C (p.Val2521Ala) rs150113647 0.00337
NM_001376.5(DYNC1H1):c.4533G>A (p.Pro1511=) rs150900416 0.00337
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=) rs147268650 0.00337
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767 0.00336
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=) rs56356283 0.00336
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp) rs114251396 0.00335
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161 0.00335
NM_153700.2(STRC):c.3540T>G (p.Leu1180=) rs199524735 0.00335
NM_175875.5(SIX5):c.732G>A (p.Gln244=) rs141944211 0.00335
NM_001267550.2(TTN):c.10931G>A (p.Ser3644Asn) rs78535378 0.00334
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn) rs141932807 0.00334
NM_005629.4(SLC6A8):c.1437C>T (p.Ser479=) rs140115896 0.00334
NM_018941.4(CLN8):c.777T>C (p.Asn259=) rs34814682 0.00334
NM_004484.4(GPC3):c.1285G>A (p.Val429Met) rs11539789 0.00333
NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln) rs151078549 0.00333
NM_001271.4(CHD2):c.2577+7T>C rs146944583 0.00332
NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=) rs75075497 0.00332
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg) rs187401185 0.00331
NM_001009944.3(PKD1):c.9111G>A (p.Ser3037=) rs57870377 0.00331
NM_001130987.2(DYSF):c.1145C>T (p.Ala382Val) rs115279465 0.00331
NM_001080414.4(CCDC88C):c.4265C>T (p.Ser1422Leu) rs202217944 0.00330
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=) rs144679294 0.00330
NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=) rs148104020 0.00330
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) rs77351928 0.00330
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala) rs141464488 0.00330
NM_001009944.3(PKD1):c.5373C>T (p.Asn1791=) rs143017410 0.00329
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_201384.3(PLEC):c.8445T>C (p.Val2815=) rs371421350 0.00329
NM_001845.6(COL4A1):c.911C>T (p.Pro304Leu) rs34843786 0.00328
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787 0.00328
NM_015443.4(KANSL1):c.773T>C (p.Leu258Ser) rs145714368 0.00328
NM_024596.5(MCPH1):c.477A>T (p.Ser159=) rs41313948 0.00328
NM_057176.3(BSND):c.459C>T (p.Asp153=) rs138974602 0.00328
NM_001130987.2(DYSF):c.2817G>A (p.Ser939=) rs148902254 0.00327
NM_002087.4(GRN):c.545C>T (p.Thr182Met) rs63750479 0.00327
NM_198576.4(AGRN):c.4285C>T (p.Arg1429Cys) rs201346452 0.00327
NC_000007.14:g.129774734A>G rs41274239 0.00326
NM_001244008.2(KIF1A):c.3202+10C>A rs190997558 0.00326
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_201384.3(PLEC):c.10759C>T (p.Leu3587=) rs200006106 0.00326
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=) rs140781855 0.00325
NM_001005361.3(DNM2):c.519T>C (p.Ala173=) rs77702567 0.00325
NM_001032221.6(STXBP1):c.247-8A>G rs199827018 0.00325
NM_001271.4(CHD2):c.4138-6T>C rs182330071 0.00325
NM_001278064.2(GRM1):c.3206C>T (p.Pro1069Leu) rs79336287 0.00325
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=) rs151080601 0.00325
NM_182961.4(SYNE1):c.21882C>A (p.Gly7294=) rs35106977 0.00325
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00324
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841 0.00324
NM_001244008.2(KIF1A):c.183+7C>T rs74469870 0.00324
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=) rs56351817 0.00324
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992 0.00323
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) rs78540316 0.00323
NM_015346.4(ZFYVE26):c.6819G>A (p.Arg2273=) rs144007962 0.00323
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu) rs56226109 0.00322
NM_000162.5(GCK):c.1019+18G>A rs150914617 0.00322
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=) rs114137271 0.00322
NM_014855.3(AP5Z1):c.126C>T (p.Leu42=) rs146682319 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_000170.3(GLDC):c.678C>T (p.His226=) rs12006003 0.00320
NM_004977.3(KCNC3):c.1771A>G (p.Ser591Gly) rs549394447 0.00320
NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr) rs148193087 0.00320
NM_021098.3(CACNA1H):c.2967C>T (p.Ser989=) rs59090452 0.00320
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783 0.00319
NM_005045.4(RELN):c.565C>T (p.His189Tyr) rs115806540 0.00319
NM_014855.3(AP5Z1):c.900C>T (p.Tyr300=) rs146915189 0.00319
NM_024596.5(MCPH1):c.989A>G (p.Tyr330Cys) rs115088000 0.00319
NM_182961.4(SYNE1):c.11485A>G (p.Thr3829Ala) rs115786671 0.00319
NM_001032221.6(STXBP1):c.325+8C>T rs117372398 0.00318
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile) rs141624266 0.00318
NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe) rs111033436 0.00318
NM_004172.5(SLC1A3):c.69T>A (p.Arg23=) rs140080134 0.00318
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=) rs112387277 0.00317
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804 0.00317
NM_002693.3(POLG):c.134A>G (p.Gln45Arg) rs201016638 0.00316
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=) rs137853918 0.00316
NM_001008537.3(NEXMIF):c.2373A>C (p.Thr791=) rs61742545 0.00315
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) rs111558968 0.00315
NM_002693.3(POLG):c.852C>T (p.Ile284=) rs41540414 0.00315
NM_016341.4(PLCE1):c.227C>T (p.Ala76Val) rs61749238 0.00315
NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys) rs115954396 0.00315
NM_000426.4(LAMA2):c.5909G>C (p.Cys1970Ser) rs148451013 0.00314
NM_001127222.2(CACNA1A):c.1698C>T (p.Ile566=) rs190603219 0.00314
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe) rs145403829 0.00314
NM_013444.4(UBQLN2):c.1383G>A (p.Gly461=) rs142250604 0.00314
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln) rs76646638 0.00314
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) rs55857552 0.00313
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp) rs143690392 0.00313
NM_002775.5(HTRA1):c.1221C>T (p.Asp407=) rs11538140 0.00313
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met) rs143543800 0.00313
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=) rs76794400 0.00313
NM_201384.3(PLEC):c.7880C>G (p.Pro2627Arg) rs184879368 0.00313
NM_000070.3(CAPN3):c.1746-20C>G rs201892814 0.00312
NM_000085.5(CLCNKB):c.1409-6T>C rs115910575 0.00312
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263 0.00312
NM_001042432.2(CLN3):c.313A>G (p.Ile105Val) rs11552531 0.00312
NM_001267550.2(TTN):c.10114+5G>A rs115985443 0.00312
NM_002292.4(LAMB2):c.3858G>T (p.Val1286=) rs34967349 0.00312
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_000336.3(SCNN1B):c.777-5T>C rs61759915 0.00311
NM_006790.3(MYOT):c.1190+7T>C rs192405601 0.00311
NM_000089.4(COL1A2):c.122G>A (p.Arg41His) rs139528613 0.00310
NM_002087.4(GRN):c.546G>A (p.Thr182=) rs138473783 0.00310
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) rs143669458 0.00310
NM_012233.3(RAB3GAP1):c.2676G>T (p.Arg892Ser) rs144455066 0.00310
NM_020638.3(FGF23):c.583C>T (p.Pro195Ser) rs13312793 0.00310
NM_032634.4(PIGO):c.2268G>A (p.Ala756=) rs149171782 0.00310
NM_006493.4(CLN5):c.-87C>T rs200353554 0.00309
NM_000391.4(TPP1):c.553C>T (p.Arg185Cys) rs34758634 0.00308
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_001164508.2(NEB):c.3636C>T (p.Asp1212=) rs144376972 0.00308
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740 0.00307
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile) rs151166497 0.00307
NM_000426.4(LAMA2):c.4935C>A (p.Thr1645=) rs35579821 0.00306
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met) rs61731477 0.00306
NM_001378452.1(ITPR1):c.6117G>A (p.Ala2039=) rs139528715 0.00306
NM_001853.4(COL9A3):c.1427C>G (p.Pro476Arg) rs142066316 0.00306
NM_004320.6(ATP2A1):c.1974C>T (p.Phe658=) rs61626938 0.00306
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=) rs72647886 0.00305
NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His) rs112062179 0.00305
NM_000370.3(TTPA):c.664-4T>G rs2045224 0.00304
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val) rs72646891 0.00304
NM_001379500.1(COL18A1):c.3406G>A (p.Gly1136Arg) rs199836125 0.00304
NM_005529.7(HSPG2):c.3336C>T (p.Pro1112=) rs2228348 0.00304
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280 0.00303
NM_001458.5(FLNC):c.4928-7T>C rs201957008 0.00303
NM_004562.3(PRKN):c.101A>G (p.Gln34Arg) rs148851677 0.00303
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906 0.00302
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00302
NM_198576.4(AGRN):c.4839C>T (p.Cys1613=) rs113020870 0.00302
NM_000540.3(RYR1):c.8376G>A (p.Arg2792=) rs150388417 0.00301
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269 0.00301
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925 0.00301
NM_201384.3(PLEC):c.4651C>T (p.Arg1551Cys) rs2857824 0.00301
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451 0.00300
NM_005045.4(RELN):c.7086C>T (p.Thr2362=) rs362747 0.00300
NM_014141.6(CNTNAP2):c.3585G>A (p.Arg1195=) rs77789547 0.00300
NM_001101426.4(CRPPA):c.67G>T (p.Gly23Cys) rs187484645 0.00299
NM_002160.4(TNC):c.6499G>A (p.Val2167Ile) rs149752009 0.00299
NM_016373.4(WWOX):c.332C>G (p.Thr111Ser) rs114755364 0.00299
NM_020361.5(CPA6):c.975A>G (p.Ala325=) rs138313759 0.00299
NM_021098.3(CACNA1H):c.2354A>T (p.Lys785Met) rs28365117 0.00299
NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val) rs142013761 0.00299
NM_032119.4(ADGRV1):c.8133C>T (p.Ser2711=) rs116446814 0.00299
NM_000085.5(CLCNKB):c.258G>A (p.Gly86=) rs143339401 0.00298
NM_000144.5(FXN):c.626A>G (p.Asp209Gly) rs74621026 0.00298
NM_000426.4(LAMA2):c.675C>T (p.Ala225=) rs139665175 0.00298
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245 0.00298
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437 0.00297
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys) rs34102501 0.00297
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765 0.00297
NM_000162.5(GCK):c.46-12C>T rs142829768 0.00296
NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val) rs111294536 0.00296
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00296
NM_007126.5(VCP):c.1704A>G (p.Gln568=) rs142577424 0.00296
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825 0.00295
NM_021098.3(CACNA1H):c.5445+4C>T rs147142971 0.00295
NM_213599.3(ANO5):c.680G>C (p.Gly227Ala) rs140903276 0.00295
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro) rs72650032 0.00294
NM_001080414.4(CCDC88C):c.766C>T (p.Leu256=) rs183742506 0.00293
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=) rs73038337 0.00293
NM_001384474.1(LOXHD1):c.2264G>T (p.Gly755Val) rs188517529 0.00293
NM_002296.4(LBR):c.995C>T (p.Ala332Val) rs141647564 0.00293
NM_005591.4(MRE11):c.121G>A (p.Asp41Asn) rs116679717 0.00293
NM_014043.4(CHMP2B):c.34+8C>T rs35413339 0.00293
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203 0.00293
NM_016156.6(MTMR2):c.130G>A (p.Val44Ile) rs146004831 0.00293
NM_213599.3(ANO5):c.259G>A (p.Val87Ile) rs34994927 0.00293
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343 0.00292
NM_007375.4(TARDBP):c.198T>C (p.Ala66=) rs61730366 0.00292
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=) rs141743294 0.00292
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_001164508.2(NEB):c.5968G>A (p.Glu1990Lys) rs146310692 0.00291
NM_001371623.1(TCOF1):c.1281G>A (p.Ala427=) rs113299143 0.00291
NM_005529.7(HSPG2):c.9514-3C>T rs114851424 0.00291
NM_006883.2(SHOX):c.676T>C (p.Ter226Arg) rs778160013 0.00291
NM_016356.5(DCDC2):c.1044C>T (p.Asp348=) rs143313706 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_001267550.2(TTN):c.94851T>A (p.Asp31617Glu) rs72648256 0.00290
NM_001367561.1(DOCK7):c.1047C>T (p.Val349=) rs139793443 0.00290
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642 0.00290
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys) rs111033458 0.00290
NM_001112741.2(KCNC1):c.1236C>T (p.Ser412=) rs73424033 0.00289
NM_001378452.1(ITPR1):c.2439G>A (p.Ser813=) rs35946460 0.00289
NM_022124.6(CDH23):c.2970C>T (p.Asp990=) rs56216952 0.00289
NM_182914.3(SYNE2):c.20596C>T (p.Leu6866=) rs141474837 0.00289
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478 0.00288
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_000051.4(ATM):c.3993+5G>T rs3092842 0.00287
NM_000142.5(FGFR3):c.2205C>G (p.Pro735=) rs145020302 0.00287
NM_000162.5(GCK):c.954G>C (p.Gly318=) rs145764627 0.00287
NM_001128228.3(TPRN):c.162C>A (p.Gly54=) rs562167855 0.00287
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln) rs72677233 0.00287
NM_001614.5(ACTG1):c.714G>A (p.Lys238=) rs11549173 0.00287
NM_001848.3(COL6A1):c.2067-10T>C rs200727020 0.00287
NM_004484.4(GPC3):c.1167-8T>C rs182950534 0.00287
NM_004977.3(KCNC3):c.1404C>T (p.Tyr468=) rs35578310 0.00287
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met) rs56342240 0.00287
NM_005445.4(SMC3):c.255A>G (p.Ser85=) rs146433240 0.00287
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00287
NM_021098.3(CACNA1H):c.4039-4G>A rs57315342 0.00287
NM_000503.6(EYA1):c.840C>A (p.Ile280=) rs55972891 0.00286
NM_001267550.2(TTN):c.15584A>G (p.Glu5195Gly) rs72648931 0.00286
NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp) rs190664764 0.00285
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) rs45630557 0.00285
NM_000142.5(FGFR3):c.393G>A (p.Ser131=) rs55662109 0.00284
NM_001267550.2(TTN):c.38336T>C (p.Val12779Ala) rs2099130 0.00284
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile) rs72466496 0.00284
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=) rs111866498 0.00284
NM_005591.4(MRE11):c.1783+5G>C rs142082313 0.00284
NM_015295.3(SMCHD1):c.4808C>T (p.Thr1603Ile) rs147034750 0.00284
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00283
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005 0.00283
NM_005529.7(HSPG2):c.4877G>A (p.Arg1626His) rs41311989 0.00283
NM_182961.4(SYNE1):c.21330C>T (p.Thr7110=) rs75469773 0.00283
NM_182961.4(SYNE1):c.2995G>A (p.Glu999Lys) rs148346599 0.00283
NM_000170.3(GLDC):c.2053-5C>G rs140877566 0.00282
NM_198576.4(AGRN):c.2067G>A (p.Gln689=) rs139886237 0.00282
NM_001371596.2(MFSD8):c.1041A>G (p.Val347=) rs148291156 0.00281
NM_001909.5(CTSD):c.912G>A (p.Pro304=) rs140238987 0.00281
NM_014363.6(SACS):c.9846A>G (p.Pro3282=) rs61753111 0.00281
NM_198576.4(AGRN):c.1434G>A (p.Thr478=) rs147346337 0.00281
NM_000217.3(KCNA1):c.237G>A (p.Glu79=) rs149110871 0.00280
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=) rs118126378 0.00280
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe) rs186745328 0.00280
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254 0.00280
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00279
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr) rs141094419 0.00278
NM_001384140.1(PCDH15):c.4860G>A (p.Thr1620=) rs148772706 0.00278
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=) rs35504014 0.00278
NM_182961.4(SYNE1):c.4162C>T (p.Arg1388Trp) rs34028822 0.00278
NM_000257.4(MYH7):c.4788G>A (p.Ser1596=) rs146858930 0.00277
NM_001040142.2(SCN2A):c.387-10G>A rs2304015 0.00277
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155 0.00277
NM_001278064.2(GRM1):c.922G>A (p.Val308Ile) rs112915383 0.00277
NM_001458.5(FLNC):c.1425C>T (p.Asn475=) rs143610360 0.00277
NM_014795.4(ZEB2):c.489C>T (p.Ile163=) rs138859323 0.00277
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) rs34000644 0.00277
NM_014625.4(NPHS2):c.447C>T (p.Gly149=) rs139111416 0.00276
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) rs141330687 0.00276
NM_182961.4(SYNE1):c.10281G>T (p.Thr3427=) rs147402839 0.00276
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) rs61737803 0.00275
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439 0.00275
NM_004924.6(ACTN4):c.978G>A (p.Gln326=) rs117392350 0.00275
NM_000257.4(MYH7):c.4353+10G>A rs202205780 0.00274
NM_001083962.2(TCF4):c.1905G>A (p.Ala635=) rs151150677 0.00274
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu) rs72646840 0.00274
NM_006158.5(NEFL):c.584C>T (p.Ala195Val) rs185200977 0.00274
NM_020822.3(KCNT1):c.333G>A (p.Ser111=) rs56008253 0.00274
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser) rs201733037 0.00274
NM_032806.6(POMGNT2):c.364G>A (p.Val122Met) rs149948290 0.00274
NM_182961.4(SYNE1):c.13863G>A (p.Thr4621=) rs112266645 0.00274
NM_000238.4(KCNH2):c.621C>T (p.Ser207=) rs41314417 0.00273
NM_003919.3(SGCE):c.769A>C (p.Thr257Pro) rs116105264 0.00273
NM_004172.5(SLC1A3):c.1489T>C (p.Leu497=) rs150357327 0.00272
NM_015046.7(SETX):c.2113A>C (p.Ile705Leu) rs34781846 0.00272
NM_022124.6(CDH23):c.7722C>T (p.Tyr2574=) rs111033483 0.00272
NM_000426.4(LAMA2):c.5247C>T (p.Ala1749=) rs149951387 0.00271
NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln) rs200957609 0.00271
NM_000079.4(CHRNA1):c.-8G>A rs138563328 0.00270
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=) rs142002333 0.00270
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126 0.00270
NM_004924.6(ACTN4):c.536C>T (p.Pro179Leu) rs149027682 0.00270
NM_007126.5(VCP):c.927C>T (p.Ile309=) rs34097935 0.00270
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202 0.00270
NM_201384.3(PLEC):c.58A>G (p.Ser20Gly) rs183111586 0.00270
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met) rs61757691 0.00269
NM_020451.3(SELENON):c.1645G>A (p.Val549Met) rs147131452 0.00268
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu) rs150179494 0.00268
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=) rs3729821 0.00267
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=) rs45489099 0.00267
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr) rs146608896 0.00267
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His) rs181104321 0.00267
NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser) rs76440173 0.00267
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354 0.00267
NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys) rs138861831 0.00266
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=) rs140350441 0.00265
NM_001267550.2(TTN):c.970C>T (p.Pro324Ser) rs72647845 0.00265
NM_005529.7(HSPG2):c.7086C>T (p.Cys2362=) rs139001173 0.00265
NM_182961.4(SYNE1):c.11541G>A (p.Met3847Ile) rs74463786 0.00265
NM_000092.5(COL4A4):c.5016A>G (p.Glu1672=) rs34761049 0.00264
NM_000744.7(CHRNA4):c.9A>G (p.Leu3=) rs80075498 0.00264
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg) rs72646823 0.00264
NM_002303.6(LEPR):c.36T>C (p.His12=) rs147768538 0.00264
NM_004526.4(MCM2):c.1501G>A (p.Gly501Arg) rs13087457 0.00264
NM_014141.6(CNTNAP2):c.3105C>T (p.Asn1035=) rs112483670 0.00264
NM_014254.3(RXYLT1):c.825G>A (p.Thr275=) rs115076664 0.00264
NM_016239.4(MYO15A):c.10242C>T (p.Phe3414=) rs188485743 0.00264
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066 0.00264
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser) rs140824939 0.00264
NM_000218.3(KCNQ1):c.-5T>C rs532941548 0.00263
NM_001958.5(EEF1A2):c.1266C>A (p.Gly422=) rs202102758 0.00263
NM_025243.4(SLC19A3):c.546G>A (p.Val182=) rs143188189 0.00263
NM_181882.3(PRX):c.3846G>A (p.Ser1282=) rs143289108 0.00263
NM_000193.4(SHH):c.570G>A (p.Ser190=) rs9333633 0.00262
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln) rs374664760 0.00262
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949 0.00262
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala) rs77968867 0.00262
NM_022124.6(CDH23):c.8808C>T (p.Asp2936=) rs148743086 0.00262
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00261
NM_000257.4(MYH7):c.2162+4G>A rs145738465 0.00261
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957 0.00261
NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=) rs34338935 0.00261
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala) rs35238405 0.00261
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) rs149758808 0.00261
NM_021098.3(CACNA1H):c.3846-10G>A rs377030217 0.00260
NM_002693.3(POLG):c.948G>A (p.Lys316=) rs61756401 0.00259
NM_003793.4(CTSF):c.676C>T (p.Arg226Cys) rs143313688 0.00259
NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys) rs145337669 0.00259
NM_015346.4(ZFYVE26):c.5121A>C (p.Gly1707=) rs143981992 0.00259
NM_018136.5(ASPM):c.9444+8T>G rs140150599 0.00259
NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=) rs147274045 0.00259
NM_182914.3(SYNE2):c.20410G>A (p.Asp6804Asn) rs150644129 0.00259
NM_001008537.3(NEXMIF):c.4246C>T (p.Pro1416Ser) rs143577015 0.00258
NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe) rs149185431 0.00258
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689 0.00258
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) rs138716143 0.00258
NM_013382.7(POMT2):c.924-10C>T rs142122657 0.00258
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln) rs140756827 0.00258
NM_000092.5(COL4A4):c.4731G>A (p.Ala1577=) rs200639109 0.00257
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036 0.00257
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349 0.00257
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) rs3027927 0.00256
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn) rs115013641 0.00256
NM_001136472.2(LITAF):c.333C>T (p.Ala111=) rs34448402 0.00256
NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=) rs45569837 0.00255
NM_001365999.1(SZT2):c.6573C>T (p.Asp2191=) rs114046098 0.00255
NM_014363.6(SACS):c.2721G>A (p.Leu907=) rs140118958 0.00255
NM_021625.5(TRPV4):c.712+10C>T rs115657305 0.00255
NM_001256545.2(MEGF10):c.1002C>T (p.His334=) rs142947482 0.00254
NM_004320.6(ATP2A1):c.1167C>T (p.Tyr389=) rs41292388 0.00254
NM_005422.4(TECTA):c.972G>C (p.Val324=) rs147790742 0.00254
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr) rs114015043 0.00254
NM_000334.4(SCN4A):c.2748C>G (p.Asn916Lys) rs115379510 0.00253
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461 0.00253
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) rs72646882 0.00252
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr) rs76249490 0.00252
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly) rs35297226 0.00252
NM_198578.4(LRRK2):c.5510-9A>G rs41286460 0.00252
NM_000454.5(SOD1):c.*2C>T rs1804447 0.00251
NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile) rs143157673 0.00251
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr) rs55660660 0.00251
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) rs77138370 0.00251
NM_003042.4(SLC6A1):c.1243C>A (p.Leu415Ile) rs112095333 0.00250
NM_004924.6(ACTN4):c.1608C>T (p.Arg536=) rs139575917 0.00250
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123 0.00250
NM_015346.4(ZFYVE26):c.1184G>T (p.Gly395Val) rs35512910 0.00250
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NM_020247.5(COQ8A):c.384C>T (p.Ala128=) rs139970507 0.00250
NM_176787.5(PIGN):c.1617T>C (p.Tyr539=) rs147306123 0.00250
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) rs72552027 0.00249
NM_003560.4(PLA2G6):c.972G>A (p.Ala324=) rs147755372 0.00249
NM_004393.6(DAG1):c.1233G>A (p.Val411=) rs145765079 0.00249
NM_001852.4(COL9A2):c.1981C>A (p.Pro661Thr) rs140041506 0.00248
NM_005629.4(SLC6A8):c.813C>T (p.Val271=) rs138064933 0.00248
NM_152743.4(BRAT1):c.2353C>T (p.Arg785Trp) rs61729932 0.00248
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=) rs368002375 0.00247
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00247
NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser) rs139491817 0.00246
NM_000232.5(SGCB):c.92G>T (p.Ser31Ile) rs115928999 0.00246
NM_001101362.3(KBTBD13):c.954C>G (p.Thr318=) rs368781046 0.00246
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00245
NM_004004.6(GJB2):c.-45C>A rs397516868 0.00245
NM_004086.3(COCH):c.1270T>G (p.Tyr424Asp) rs61759484 0.00245
NM_005591.4(MRE11):c.969A>G (p.Pro323=) rs13447633 0.00245
NM_015346.4(ZFYVE26):c.4854C>T (p.Leu1618=) rs151287975 0.00245
NM_018075.5(ANO10):c.1915-5816C>A rs146629436 0.00245
NM_032119.4(ADGRV1):c.3295A>G (p.Thr1099Ala) rs61754947 0.00245
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077 0.00244
NM_002055.5(GFAP):c.313C>T (p.Arg105Trp) rs139838162 0.00244
NM_004782.4(SNAP29):c.234C>G (p.Ser78=) rs144160898 0.00244
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile) rs144250390 0.00243
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260 0.00243
NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=) rs138049720 0.00243
NM_175914.5(HNF4A):c.744C>T (p.Asp248=) rs6031592 0.00243
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898 0.00242
NM_001164508.2(NEB):c.4980C>T (p.Pro1660=) rs142074817 0.00242
NM_001271.4(CHD2):c.3321C>T (p.Asp1107=) rs141018126 0.00242
NM_001852.4(COL9A2):c.1007C>A (p.Ala336Glu) rs150075912 0.00242
NM_005619.5(RTN2):c.1168G>A (p.Gly390Ser) rs143937661 0.00242
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776 0.00242
NM_032119.4(ADGRV1):c.7284T>C (p.Asn2428=) rs148932387 0.00242
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) rs61746518 0.00241
NM_000080.4(CHRNE):c.1076C>T (p.Pro359Leu) rs192195094 0.00240
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=) rs142812510 0.00240
NM_001292063.2(OTOG):c.4238G>A (p.Arg1413Gln) rs143848095 0.00240
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val) rs61736002 0.00240
NM_018109.4(MTPAP):c.585G>A (p.Lys195=) rs144945655 0.00240
NM_032806.6(POMGNT2):c.450A>G (p.Pro150=) rs142190930 0.00240
NM_139319.3(SLC17A8):c.336T>C (p.Asp112=) rs11568546 0.00240
NM_000162.5(GCK):c.209-8G>A rs144798843 0.00239
NM_000257.4(MYH7):c.3853+7C>T rs45467397 0.00239
NM_000726.5(CACNB4):c.655A>G (p.Met219Val) rs201870832 0.00239
NM_001293298.2(CEMIP):c.3397G>A (p.Glu1133Lys) rs151273972 0.00239
NM_002292.4(LAMB2):c.109C>G (p.Pro37Ala) rs144765752 0.00239
NM_002578.5(PAK3):c.531G>A (p.Glu177=) rs56270341 0.00239
NM_006946.4(SPTBN2):c.1068G>A (p.Pro356=) rs150080880 0.00239
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys) rs72629785 0.00238
NM_001267550.2(TTN):c.84461C>T (p.Pro28154Leu) rs200350579 0.00238
NM_003482.4(KMT2D):c.6573G>A (p.Thr2191=) rs202085637 0.00238
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919 0.00238
NM_198994.3(TGM6):c.146A>T (p.Asp49Val) rs12106280 0.00238
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) rs143777403 0.00238
NM_000545.8(HNF1A):c.*5G>A rs112986697 0.00237
NM_001009944.3(PKD1):c.9795C>T (p.Ser3265=) rs150949575 0.00237
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00237
NM_024411.5(PDYN):c.121A>G (p.Asn41Asp) rs59191035 0.00237
NM_182961.4(SYNE1):c.18185C>T (p.Ser6062Leu) rs139790539 0.00237
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=) rs35654397 0.00236
NM_001278064.2(GRM1):c.2859C>T (p.Thr953=) rs116471335 0.00236
NM_001379110.1(SLC9A6):c.1460+4A>G rs180727016 0.00236
NM_006383.4(CIB2):c.462G>A (p.Glu154=) rs117153558 0.00236
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939 0.00236
NM_015346.4(ZFYVE26):c.7417-5G>C rs201771769 0.00236
NM_018941.4(CLN8):c.290G>A (p.Arg97His) rs116605307 0.00236
NM_032119.4(ADGRV1):c.22+9T>C rs368604803 0.00236
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250 0.00235
NM_000702.4(ATP1A2):c.2967C>T (p.Phe989=) rs138826759 0.00235
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=) rs116604145 0.00235
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys) rs144090917 0.00234
NM_001042492.3(NF1):c.655-29T>C rs182325576 0.00234
NM_001267550.2(TTN):c.96108G>A (p.Val32036=) rs372773283 0.00234
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_000497.4(CYP11B1):c.1003A>G (p.Asn335Asp) rs61752766 0.00233
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127 0.00233
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953 0.00233
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln) rs78046647 0.00233
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567 0.00233
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu) rs150563155 0.00233
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile) rs41280110 0.00232
NM_000545.8(HNF1A):c.1425G>A (p.Pro475=) rs145589373 0.00232
NM_001037.5(SCN1B):c.267C>T (p.Arg89=) rs140949982 0.00232
NM_001384140.1(PCDH15):c.4672-1640A>G rs145178582 0.00232
NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser) rs150236371 0.00232
NM_021098.3(CACNA1H):c.*10T>A rs59336915 0.00232
NM_031443.4(CCM2):c.804-5C>T rs145003686 0.00232
NM_182914.3(SYNE2):c.16743G>A (p.Thr5581=) rs138769395 0.00232
NM_201384.3(PLEC):c.1956C>T (p.Thr652=) rs201835507 0.00232
NM_000083.3(CLCN1):c.86A>C (p.His29Pro) rs146160029 0.00231
NM_000337.6(SGCD):c.*2A>C rs200757725 0.00231
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729 0.00231
NM_001191061.2(SLC25A22):c.500G>A (p.Arg167Gln) rs201089795 0.00231
NM_001853.4(COL9A3):c.755G>A (p.Arg252Gln) rs139573483 0.00231
NM_005529.7(HSPG2):c.2462C>T (p.Ala821Val) rs141901178 0.00231
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=) rs56329646 0.00231
NM_001244710.2(GFPT1):c.549T>C (p.Gly183=) rs144566433 0.00230
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=) rs150392503 0.00230
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00230
NM_201384.3(PLEC):c.3778C>G (p.Arg1260Gly) rs151022876 0.00230
NM_000162.5(GCK):c.483+14A>G rs74852379 0.00229
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231 0.00229
NM_003179.3(SYP):c.687C>T (p.Ala229=) rs201427270 0.00229
NM_003900.5(SQSTM1):c.712A>G (p.Lys238Glu) rs11548633 0.00229
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832 0.00229
NM_020247.5(COQ8A):c.948C>T (p.Leu316=) rs55637780 0.00229
NM_133433.4(NIPBL):c.4245A>C (p.Ser1415=) rs138440449 0.00229
NM_000238.4(KCNH2):c.558C>T (p.Gly186=) rs139533994 0.00228
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432 0.00228
NM_198859.4(PRICKLE2):c.1527G>A (p.Glu509=) rs144455095 0.00228
NM_004393.6(DAG1):c.2036G>A (p.Arg679His) rs113904914 0.00227
NM_024577.4(SH3TC2):c.3479-8A>G rs147800229 0.00227
NM_001379180.1(ESRRB):c.1120+8C>T rs373429794 0.00226
NM_001379200.1(TBX1):c.519G>A (p.Pro173=) rs111754814 0.00226
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_201384.3(PLEC):c.12642C>T (p.Ile4214=) rs111227648 0.00226
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln) rs34066624 0.00225
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00225
NM_001244008.2(KIF1A):c.4917G>A (p.Leu1639=) rs187810230 0.00225
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=) rs61755436 0.00225
NM_015295.3(SMCHD1):c.424+10C>T rs201631086 0.00225
NM_198576.4(AGRN):c.4131C>T (p.Phe1377=) rs368555478 0.00225
NM_000400.4(ERCC2):c.699C>T (p.Phe233=) rs141816180 0.00224
NM_000426.4(LAMA2):c.411G>A (p.Ala137=) rs149347601 0.00224
NM_000426.4(LAMA2):c.8755C>T (p.Pro2919Ser) rs143026295 0.00224
NM_001101362.3(KBTBD13):c.1077A>G (p.Gly359=) rs199526404 0.00224
NM_001244008.2(KIF1A):c.4889G>A (p.Arg1630Gln) rs191428830 0.00224
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=) rs74550830 0.00224
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925 0.00223
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=) rs55696153 0.00223
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) rs61735401 0.00223
NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=) rs149172723 0.00223
NM_000435.3(NOTCH3):c.2507C>T (p.Thr836Ile) rs34338511 0.00222
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481 0.00222
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238 0.00222
NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro) rs143956614 0.00222
NM_004700.4(KCNQ4):c.1188C>T (p.Pro396=) rs189541861 0.00222
NM_004984.4(KIF5A):c.1293+9G>A rs201749114 0.00222
NM_022464.5(SIL1):c.1351G>A (p.Gly451Ser) rs34214251 0.00222
NM_032119.4(ADGRV1):c.14515C>G (p.Gln4839Glu) rs79464236 0.00222
NM_003793.4(CTSF):c.130C>T (p.Arg44Cys) rs573483617 0.00221
NM_006158.5(NEFL):c.855C>T (p.Thr285=) rs1065083 0.00221
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val) rs142586585 0.00221
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=) rs150638770 0.00220
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 0.00220
NM_000426.4(LAMA2):c.6429+8C>A rs199773264 0.00220
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566 0.00220
NM_001080414.4(CCDC88C):c.4707G>A (p.Arg1569=) rs145210051 0.00220
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro) rs558064127 0.00220
NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=) rs182840163 0.00220
NM_002529.4(NTRK1):c.254G>A (p.Arg85His) rs79678945 0.00220
NM_003482.4(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661 0.00220
NM_005529.7(HSPG2):c.9789C>A (p.Leu3263=) rs137921473 0.00220
NM_015346.4(ZFYVE26):c.6405G>A (p.Leu2135=) rs76327447 0.00220
NM_020247.5(COQ8A):c.618G>A (p.Val206=) rs115855910 0.00220
NM_024306.5(FA2H):c.847G>A (p.Val283Ile) rs138244546 0.00220
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg) rs74315416 0.00220
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_001379500.1(COL18A1):c.3036G>A (p.Pro1012=) rs370656151 0.00219
NM_005529.7(HSPG2):c.7191G>A (p.Ala2397=) rs2290499 0.00219
NM_080680.3(COL11A2):c.3583-5T>C rs183536190 0.00219
NM_152296.5(ATP1A3):c.154-5C>G rs191645384 0.00219
NM_001059.3(TACR3):c.1344C>T (p.Ser448=) rs76121575 0.00218
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys) rs181347577 0.00218
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00218
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=) rs202043044 0.00218
NM_003680.4(YARS1):c.52C>T (p.Leu18=) rs147538442 0.00218
NM_017780.4(CHD7):c.1536A>G (p.Pro512=) rs148577619 0.00218
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544 0.00217
NM_001083961.2(WDR62):c.3033G>A (p.Pro1011=) rs118175551 0.00217
NM_001113491.2(SEPTIN9):c.201C>T (p.Gly67=) rs61744333 0.00217
NM_001267550.2(TTN):c.1068G>A (p.Glu356=) rs144716589 0.00217
NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val) rs200840285 0.00217
NM_005506.4(SCARB2):c.445G>A (p.Val149Met) rs147159813 0.00217
NM_018109.4(MTPAP):c.1637G>A (p.Ser546Asn) rs17855116 0.00217
NM_182914.3(SYNE2):c.6880-5C>T rs187173455 0.00217
NM_182961.4(SYNE1):c.8230C>A (p.Gln2744Lys) rs145195048 0.00217
NM_201525.4(ADGRG1):c.174C>T (p.Ile58=) rs140963173 0.00217
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val) rs141625744 0.00216
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu) rs201060500 0.00216
NM_007254.4(PNKP):c.1497G>A (p.Leu499=) rs142199280 0.00216
NM_015046.7(SETX):c.2981A>G (p.Asp994Gly) rs149546633 0.00216
NM_024334.3(TMEM43):c.*8C>T rs192707412 0.00216
NM_000451.4(SHOX):c.864G>A (p.Glu288=) rs781656634 0.00215
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=) rs61757111 0.00215
NM_001843.4(CNTN1):c.1401T>C (p.Gly467=) rs61759480 0.00215
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=) rs146810749 0.00215
NM_201384.3(PLEC):c.112+3A>G rs191308779 0.00215
NM_000435.3(NOTCH3):c.2175T>C (p.Ser725=) rs141993521 0.00214
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=) rs370286749 0.00214
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=) rs368168812 0.00214
NM_001267550.2(TTN):c.34505G>T (p.Gly11502Val) rs190209925 0.00214
NM_001370298.3(FGD4):c.1296C>T (p.Phe432=) rs151083690 0.00214
NM_002160.4(TNC):c.945C>T (p.Cys315=) rs148465701 0.00214
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser) rs139691746 0.00214
NM_000540.3(RYR1):c.216G>T (p.Leu72=) rs113389877 0.00213
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile) rs116105846 0.00213
NM_001126108.2(SLC12A3):c.928G>A (p.Glu310Lys) rs146834675 0.00213
NM_001127222.2(CACNA1A):c.1345+7C>T rs192536793 0.00213
NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly) rs143093165 0.00213
NM_024577.4(SH3TC2):c.1473C>T (p.Phe491=) rs144016931 0.00213
NM_000334.4(SCN4A):c.1100+7G>A rs200770684 0.00212
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239 0.00212
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00212
NM_000383.4(AIRE):c.1566+8C>T rs72650680 0.00211
NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=) rs144520412 0.00211
NM_005670.4(EPM2A):c.393G>A (p.Glu131=) rs61758155 0.00211
NM_006796.3(AFG3L2):c.98A>C (p.Gln33Pro) rs777868371 0.00211
NM_000085.5(CLCNKB):c.171G>A (p.Gly57=) rs150723240 0.00210
NM_000091.5(COL4A3):c.4665G>A (p.Ala1555=) rs200858199 0.00210
NM_000744.7(CHRNA4):c.1353G>A (p.Pro451=) rs113168860 0.00210
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616 0.00210
NM_001354604.2(MITF):c.366C>T (p.His122=) rs140663277 0.00210
NM_004637.6(RAB7A):c.423C>G (p.Ala141=) rs61758751 0.00210
NM_005413.4(SIX3):c.109G>T (p.Gly37Cys) rs199823175 0.00210
NM_014141.6(CNTNAP2):c.551-11T>G rs78223661 0.00210
NM_015046.7(SETX):c.2401A>G (p.Lys801Glu) rs149718424 0.00210
NM_020549.5(CHAT):c.438C>T (p.Tyr146=) rs61731734 0.00210
NM_144991.3(TSPEAR):c.170G>A (p.Arg57Gln) rs151001222 0.00210
NM_170707.4(LMNA):c.1761G>A (p.Leu587=) rs80356813 0.00210
NM_000548.5(TSC2):c.4908C>T (p.Asp1636=) rs115200071 0.00209
NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg) rs369397443 0.00209
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=) rs138240658 0.00209
NM_018136.5(ASPM):c.1717C>T (p.Arg573Trp) rs144049904 0.00209
NM_000170.3(GLDC):c.1156-7C>G rs150095531 0.00208
NM_000744.7(CHRNA4):c.1143C>T (p.Ala381=) rs75221202 0.00208
NM_005866.4(SIGMAR1):c.6G>A (p.Gln2=) rs541251697 0.00208
NM_006493.4(CLN5):c.-99G>C rs202118652 0.00208
NM_000335.5(SCN5A):c.354C>T (p.His118=) rs45533640 0.00207
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) rs138576504 0.00207
NM_002775.5(HTRA1):c.879C>T (p.Thr293=) rs149294320 0.00207
NM_005422.4(TECTA):c.1812C>T (p.Ser604=) rs138914618 0.00207
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu) rs144358567 0.00207
NM_000484.4(APP):c.2212-11_2212-10del rs112965435 0.00206
NM_000540.3(RYR1):c.2121C>A (p.Gly707=) rs146104858 0.00206
NM_000834.5(GRIN2B):c.3552C>T (p.Gly1184=) rs141886903 0.00206
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) rs72650019 0.00206
NM_001267550.2(TTN):c.87707-4G>T rs201770959 0.00206
NM_001377265.1(MAPT):c.2091+29G>A rs63751443 0.00206
NM_006946.4(SPTBN2):c.1221C>T (p.His407=) rs143596433 0.00206
NM_201384.3(PLEC):c.6069C>G (p.Arg2023=) rs376365984 0.00206
NM_001267550.2(TTN):c.1938+10G>C rs190935632 0.00205
NM_001852.4(COL9A2):c.1551C>T (p.Gly517=) rs140697524 0.00205
NM_004526.4(MCM2):c.759G>A (p.Ala253=) rs35749886 0.00205
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995 0.00205
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_182961.4(SYNE1):c.3120T>A (p.Thr1040=) rs147176678 0.00205
NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly) rs200513156 0.00204
NM_001267550.2(TTN):c.426C>T (p.Ala142=) rs56137037 0.00204
NM_133642.5(LARGE1):c.210C>T (p.Arg70=) rs145048151 0.00204
NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val) rs140528529 0.00203
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met) rs201554140 0.00203
NM_001354604.2(MITF):c.880+9C>G rs181810413 0.00203
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489 0.00203
NM_001166114.2(PNPLA6):c.4060C>T (p.Leu1354=) rs150392453 0.00202
NM_001267550.2(TTN):c.289G>A (p.Val97Met) rs185921345 0.00202
NM_002047.4(GARS1):c.1420C>A (p.Arg474=) rs113958280 0.00202
NM_000054.7(AVPR2):c.740G>A (p.Arg247His) rs149668713 0.00201
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg) rs200662010 0.00201
NM_001080414.4(CCDC88C):c.5087T>C (p.Leu1696Pro) rs77154172 0.00201
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met) rs191971593 0.00201
NM_015295.3(SMCHD1):c.1956+7C>T rs145755468 0.00201
NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu) rs185149177 0.00201
NM_033337.3(CAV3):c.-1G>A rs74377241 0.00201
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_000170.3(GLDC):c.2683A>G (p.Met895Val) rs141152043 0.00200
NM_000352.6(ABCC8):c.4545+13C>T rs78338172 0.00200
NM_000435.3(NOTCH3):c.2300G>A (p.Arg767His) rs75291244 0.00200
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=) rs149371169 0.00200
NM_001242896.3(DEPDC5):c.3683T>C (p.Ile1228Thr) rs200653339 0.00200
NM_001365999.1(SZT2):c.6380A>T (p.Tyr2127Phe) rs149812437 0.00200
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn) rs114314967 0.00200
NM_001378452.1(ITPR1):c.1886+7C>T rs181465598 0.00200
NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=) rs115834242 0.00200
NM_002968.3(SALL1):c.379G>C (p.Val127Leu) rs138635817 0.00200
NM_015340.4(LARS2):c.1692C>T (p.Ala564=) rs149911756 0.00200
NM_198576.4(AGRN):c.2690C>T (p.Ala897Val) rs116836855 0.00200
NM_000722.4(CACNA2D1):c.1983G>A (p.Ser661=) rs75158917 0.00199
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln) rs140621959 0.00199
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00199
NM_182914.3(SYNE2):c.18039-5T>A rs189611387 0.00199
NM_000051.4(ATM):c.370A>G (p.Ile124Val) rs148590073 0.00198
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val) rs115080759 0.00198
NM_001009944.3(PKD1):c.10406-4C>T rs151095649 0.00198
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803 0.00198
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) rs142317580 0.00198
NM_002396.5(ME2):c.629T>C (p.Ile210Thr) rs142990108 0.00198
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856 0.00198
NM_152743.4(BRAT1):c.1659C>T (p.Leu553=) rs61746940 0.00198
NM_152743.4(BRAT1):c.1862G>A (p.Arg621Gln) rs138077616 0.00198
NM_000260.4(MYO7A):c.3750+9G>A rs111033252 0.00197
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys) rs200378865 0.00197
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His) rs114711705 0.00197
NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu) rs138762270 0.00197
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_016239.4(MYO15A):c.5754T>G (p.Ile1918Met) rs150403702 0.00197
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) rs149037185 0.00197
NM_001330260.2(SCN8A):c.141C>T (p.Asp47=) rs149013279 0.00196
NM_003482.4(KMT2D):c.6752C>T (p.Ser2251Leu) rs189199944 0.00196
NM_004960.4(FUS):c.273C>T (p.Tyr91=) rs73530286 0.00196
NM_005529.7(HSPG2):c.4627-3del rs368983547 0.00196
NM_021072.4(HCN1):c.1783+4C>T rs188586020 0.00196
NM_054027.6(ANKH):c.102G>A (p.Leu34=) rs116591972 0.00196
NM_201525.4(ADGRG1):c.1017+8G>A rs186479054 0.00196
NM_000540.3(RYR1):c.12283-7C>T rs143861818 0.00195
NM_001009944.3(PKD1):c.3853C>T (p.Arg1285Trp) rs143953714 0.00195
NM_001145026.2(PTPRQ):c.1710C>T (p.Ser570=) rs140978858 0.00195
NM_001267550.2(TTN):c.34307A>G (p.Lys11436Arg) rs568554504 0.00195
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873 0.00195
NM_003482.4(KMT2D):c.5220C>T (p.Ala1740=) rs200369026 0.00195
NM_006790.3(MYOT):c.822T>C (p.Ser274=) rs138678049 0.00195
NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala) rs190922596 0.00195
NM_000142.5(FGFR3):c.*5C>G rs17879364 0.00194
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=) rs45522138 0.00194
NM_000388.4(CASR):c.2730C>A (p.Pro910=) rs34200949 0.00194
NM_001110792.2(MECP2):c.618C>T (p.Ser206=) rs61749711 0.00194
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn) rs184740744 0.00194
NM_021098.3(CACNA1H):c.4420C>T (p.Arg1474Trp) rs57105517 0.00194
NM_153026.3(PRICKLE1):c.177C>T (p.Tyr59=) rs144843013 0.00194
NM_182961.4(SYNE1):c.23461-6A>C rs145098375 0.00194
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214 0.00193
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln) rs72648969 0.00193
NM_001267550.2(TTN):c.98439G>A (p.Val32813=) rs368487246 0.00193
NM_016373.4(WWOX):c.1197G>A (p.Ala399=) rs376935572 0.00193
NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu) rs149978500 0.00193
NM_000083.3(CLCN1):c.2509-3C>T rs375341574 0.00192
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_000744.7(CHRNA4):c.1047G>A (p.Leu349=) rs75593857 0.00192
NM_002529.4(NTRK1):c.1908G>A (p.Ala636=) rs17838192 0.00192
NM_004646.4(NPHS1):c.128T>C (p.Val43Ala) rs140626538 0.00192
NM_014946.4(SPAST):c.484G>A (p.Val162Ile) rs141944844 0.00192
NM_000193.4(SHH):c.869G>A (p.Gly290Asp) rs104894047 0.00191
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049 0.00191
NM_001378452.1(ITPR1):c.7509T>C (p.Asp2503=) rs79720149 0.00191
NM_004115.4(FGF14):c.124G>T (p.Gly42Cys) rs141304687 0.00191
NM_021625.5(TRPV4):c.1713C>G (p.Ile571Met) rs185933892 0.00191
NM_024306.5(FA2H):c.1113G>C (p.Thr371=) rs140017632 0.00191
NM_058246.4(DNAJB6):c.279C>T (p.Phe93=) rs149278319 0.00191
NM_182961.4(SYNE1):c.4596C>T (p.Tyr1532=) rs138264334 0.00191
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) rs141235641 0.00191
NM_000551.4(VHL):c.340+5G>C rs61758376 0.00190
NM_004070.4(CLCNKA):c.1005C>T (p.Leu335=) rs143253425 0.00190
NM_004733.4(SLC33A1):c.1451A>C (p.Asn484Thr) rs144015992 0.00190
NM_016239.4(MYO15A):c.8811C>T (p.His2937=) rs200583193 0.00190
NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys) rs116426399 0.00189
NM_001267550.2(TTN):c.66977A>G (p.Lys22326Arg) rs202125813 0.00189
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr) rs145556097 0.00189
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala) rs182491843 0.00188
NM_001371623.1(TCOF1):c.1028G>A (p.Ser343Asn) rs144327167 0.00188
NM_001378452.1(ITPR1):c.930G>A (p.Thr310=) rs28565126 0.00188
NM_002303.6(LEPR):c.1604-16T>C rs143936245 0.00188
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877 0.00188
NM_021072.4(HCN1):c.2172C>T (p.Ala724=) rs56217199 0.00188
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00188
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile) rs199859344 0.00187
NM_002473.6(MYH9):c.165C>T (p.Ile55=) rs141948797 0.00187
NM_005859.5(PURA):c.321C>T (p.Ala107=) rs149139260 0.00187
NM_012210.4(TRIM32):c.558G>C (p.Gln186His) rs117599771 0.00187
NM_018723.4(RBFOX1):c.282C>T (p.Asp94=) rs145861898 0.00187
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682 0.00186
NM_000540.3(RYR1):c.297G>A (p.Thr99=) rs144241486 0.00186
NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser) rs72648245 0.00186
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln) rs146321088 0.00186
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile) rs138232538 0.00186
NM_014874.4(MFN2):c.408A>T (p.Val136=) rs78814413 0.00186
NM_021098.3(CACNA1H):c.6717C>T (p.Gly2239=) rs143733790 0.00186
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00185
NM_000426.4(LAMA2):c.2430A>C (p.Pro810=) rs147572139 0.00185
NM_001009944.3(PKD1):c.5307T>C (p.His1769=) rs575064371 0.00185
NM_001286445.3(RIPOR2):c.1757C>T (p.Ala586Val) rs189463989 0.00185
NM_001379500.1(COL18A1):c.3665G>A (p.Arg1222His) rs201006742 0.00185
NM_005045.4(RELN):c.1377G>A (p.Arg459=) rs73712207 0.00185
NM_020822.3(KCNT1):c.3690C>T (p.Arg1230=) rs141521745 0.00185
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys) rs147587689 0.00185
NM_000091.5(COL4A3):c.3566-9T>C rs147886850 0.00184
NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp) rs55857742 0.00184
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722 0.00184
NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser) rs116035946 0.00184
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu) rs61744480 0.00184
NM_001195248.2(APTX):c.742T>A (p.Leu248Met) rs141195622 0.00183
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=) rs142891278 0.00183
NM_001278116.2(L1CAM):c.3519C>T (p.Phe1173=) rs142277193 0.00183
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00183
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015 0.00183
NM_176787.5(PIGN):c.2751G>T (p.Thr917=) rs200481058 0.00183
NM_201384.3(PLEC):c.4873G>A (p.Glu1625Lys) rs187338487 0.00183
NM_201384.3(PLEC):c.7356C>T (p.Ile2452=) rs199958797 0.00183
NM_203446.3(SYNJ1):c.3369A>G (p.Pro1123=) rs368850131 0.00183
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=) rs150378053 0.00182
NM_002693.3(POLG):c.1174C>G (p.Leu392Val) rs145289229 0.00182
NM_004733.4(SLC33A1):c.136G>A (p.Glu46Lys) rs149571533 0.00182
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp) rs142458572 0.00182
NM_014159.7(SETD2):c.2302G>C (p.Val768Leu) rs9311404 0.00182
NM_017882.3(CLN6):c.840G>A (p.Leu280=) rs148949069 0.00182
NM_022089.4(ATP13A2):c.2367C>T (p.Leu789=) rs140048110 0.00182
NM_130837.3(OPA1):c.1236A>G (p.Ala412=) rs150807064 0.00182
NM_144991.3(TSPEAR):c.343G>A (p.Asp115Asn) rs144586270 0.00182
NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=) rs146512619 0.00181
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553 0.00181
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile) rs144930507 0.00181
NM_173660.5(DOK7):c.1278C>T (p.Pro426=) rs139468087 0.00181
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896 0.00180
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425 0.00180
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485 0.00180
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) rs191484894 0.00180
NM_001377265.1(MAPT):c.1630G>A (p.Ala544Thr) rs143624519 0.00180
NM_001378030.1(CCDC78):c.492+1G>A rs138669350 0.00180
NM_001378030.1(CCDC78):c.737G>A (p.Arg246Gln) rs147606575 0.00180
NM_001386393.1(PANK2):c.960T>C (p.Thr320=) rs149583615 0.00180
NM_001845.6(COL4A1):c.2647G>A (p.Val883Ile) rs41275090 0.00180
NM_018075.5(ANO10):c.1954A>G (p.Met652Val) rs147989825 0.00180
NM_032119.4(ADGRV1):c.12527+6G>T rs141701016 0.00180
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser) rs148939995 0.00180
NM_182914.3(SYNE2):c.430C>G (p.Leu144Val) rs142000273 0.00180
NM_000088.4(COL1A1):c.3531+10C>A rs41316721 0.00179
NM_000722.4(CACNA2D1):c.2837-7A>G rs112176710 0.00179
NM_001146262.4(SYT14):c.408T>C (p.Tyr136=) rs71515148 0.00179
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304 0.00178
NM_001009944.3(PKD1):c.8713G>A (p.Val2905Ile) rs147788838 0.00178
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=) rs143944746 0.00178
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=) rs56324602 0.00178
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=) rs56293906 0.00178
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) rs149146258 0.00178
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981 0.00177
NM_001278064.2(GRM1):c.3161G>A (p.Gly1054Asp) rs145764886 0.00177
NM_001927.4(DES):c.324G>A (p.Glu108=) rs138677215 0.00177
NM_014363.6(SACS):c.7737G>A (p.Lys2579=) rs139279302 0.00177
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp) rs147458358 0.00177
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser) rs144762960 0.00177
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592 0.00176
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919 0.00176
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=) rs34025424 0.00176
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu) rs139029314 0.00176
NM_000426.4(LAMA2):c.1621A>G (p.Ser541Gly) rs141363186 0.00175
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996 0.00175
NM_001244008.2(KIF1A):c.2958G>C (p.Val986=) rs186881889 0.00175
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248 0.00175
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=) rs199714102 0.00175
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918 0.00175
NM_005529.7(HSPG2):c.959-5C>T rs149574138 0.00175
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987 0.00175
NM_181458.4(PAX3):c.586+57A>G rs202175449 0.00175
NM_198994.3(TGM6):c.502G>A (p.Val168Met) rs147494925 0.00175
NM_001166114.2(PNPLA6):c.3234C>T (p.Asn1078=) rs148831568 0.00174
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly) rs201167067 0.00174
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748 0.00174
NM_001854.4(COL11A1):c.52A>T (p.Thr18Ser) rs114630202 0.00174
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe) rs2920791 0.00174
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542 0.00174
NM_201384.3(PLEC):c.3171G>A (p.Ser1057=) rs371271326 0.00174
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00173
NM_001151.4(SLC25A4):c.490A>G (p.Ile164Val) rs143511445 0.00173
NM_001365999.1(SZT2):c.7245C>T (p.Ser2415=) rs142822908 0.00173
NM_001378030.1(CCDC78):c.953+10G>A rs79863898 0.00173
NM_001458.5(FLNC):c.2390-9T>C rs368068407 0.00173
NM_001458.5(FLNC):c.7091G>A (p.Arg2364His) rs201672146 0.00173
NM_001849.4(COL6A2):c.3017C>T (p.Ala1006Val) rs113169531 0.00173
NM_002906.4(RDX):c.1487C>T (p.Ala496Val) rs74983220 0.00173
NM_182914.3(SYNE2):c.4286T>C (p.Leu1429Pro) rs150573158 0.00173
NM_182961.4(SYNE1):c.20646G>A (p.Ser6882=) rs138628147 0.00173
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile) rs368468 0.00172
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr) rs189966800 0.00172
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232 0.00172
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser) rs187864727 0.00172
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr) rs141138349 0.00172
NM_173500.4(TTBK2):c.1059C>T (p.Ser353=) rs200405805 0.00172
NM_182914.3(SYNE2):c.9230C>T (p.Pro3077Leu) rs200742016 0.00172
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) rs149109801 0.00172
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=) rs34718443 0.00171
NM_001178015.2(SLC4A10):c.3166C>G (p.Gln1056Glu) rs142943771 0.00171
NM_001195263.2(PDZD7):c.971G>A (p.Ser324Asn) rs200592310 0.00171
NM_005529.7(HSPG2):c.4489T>A (p.Phe1497Ile) rs138460117 0.00171
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309 0.00171
NM_006279.5(ST3GAL3):c.618C>T (p.Arg206=) rs115003742 0.00171
NM_006946.4(SPTBN2):c.2526C>T (p.Gly842=) rs144939155 0.00171
NM_033305.3(VPS13A):c.3078T>G (p.Thr1026=) rs141835897 0.00171
NM_182961.4(SYNE1):c.20292T>C (p.Asp6764=) rs73619386 0.00171
NM_001540.5(HSPB1):c.573T>C (p.Leu191=) rs34771861 0.00170
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly) rs143954823 0.00170
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) rs138241615 0.00170
NM_014363.6(SACS):c.2988A>G (p.Leu996=) rs111846884 0.00170
NM_015087.5(SPART):c.361G>T (p.Asp121Tyr) rs146398746 0.00170
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) rs117360770 0.00170
NM_005198.5(CHKB):c.149A>G (p.Tyr50Cys) rs138205828 0.00169
NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro) rs116750638 0.00169
NM_021098.3(CACNA1H):c.6195C>T (p.Ala2065=) rs375589233 0.00169
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu) rs148376885 0.00169
NM_001130987.2(DYSF):c.5058C>A (p.Leu1686=) rs141476432 0.00168
NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr) rs138160928 0.00168
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=) rs373924055 0.00168
NM_002180.3(IGHMBP2):c.304G>T (p.Ala102Ser) rs35610053 0.00168
NM_005529.7(HSPG2):c.2326G>A (p.Val776Met) rs145476116 0.00168
NM_006946.4(SPTBN2):c.1434C>T (p.Ser478=) rs35463342 0.00168
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg) rs147317123 0.00168
NM_014874.4(MFN2):c.663T>C (p.Asp221=) rs116504054 0.00168
NM_015443.4(KANSL1):c.727C>A (p.Gln243Lys) rs142096969 0.00168
NM_020919.4(ALS2):c.3309T>C (p.His1103=) rs201920363 0.00167
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=) rs147947402 0.00167
NM_000051.4(ATM):c.609C>T (p.Asp203=) rs144709948 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00166
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00166
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=) rs76092524 0.00166
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) rs142841538 0.00166
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00166
NM_001379110.1(SLC9A6):c.1637G>A (p.Arg546Gln) rs146263125 0.00166
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln) rs72659383 0.00166
NM_024301.5(FKRP):c.1179A>G (p.Val393=) rs145894568 0.00166
NM_032119.4(ADGRV1):c.8088G>A (p.Leu2696=) rs373069459 0.00166
NM_182914.3(SYNE2):c.7124T>C (p.Leu2375Pro) rs111902869 0.00166
NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn) rs117480635 0.00166
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=) rs148727945 0.00165
NM_015087.5(SPART):c.1155T>G (p.Arg385=) rs140222511 0.00165
NM_198994.3(TGM6):c.2052G>A (p.Val684=) rs149369357 0.00165
NM_006946.4(SPTBN2):c.3429A>G (p.Leu1143=) rs35370566 0.00164
NM_015046.7(SETX):c.3310C>G (p.Gln1104Glu) rs113831637 0.00164
NM_021098.3(CACNA1H):c.2759C>T (p.Thr920Met) rs59052554 0.00164
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776 0.00164
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met) rs72773422 0.00163
NM_006493.4(CLN5):c.705G>A (p.Val235=) rs116531784 0.00163
NM_018429.3(BDP1):c.4578A>G (p.Ser1526=) rs199669834 0.00163
NM_182961.4(SYNE1):c.23002C>G (p.Leu7668Val) rs150589796 0.00163
NM_000426.4(LAMA2):c.1308T>G (p.Gly436=) rs41285286 0.00162
NM_001009944.3(PKD1):c.6297G>T (p.Gly2099=) rs137925121 0.00162
NM_001159699.2(FHL1):c.489C>T (p.Asp163=) rs149670651 0.00162
NM_001293298.2(CEMIP):c.3625C>T (p.His1209Tyr) rs140790232 0.00162
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083 0.00162
NM_001005361.3(DNM2):c.643G>A (p.Asp215Asn) rs145478270 0.00161
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp) rs139879284 0.00161
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr) rs144668626 0.00161
NM_021625.5(TRPV4):c.57C>T (p.Pro19=) rs112408790 0.00161
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His) rs143032801 0.00161
NM_031844.3(HNRNPU):c.1215G>A (p.Val405=) rs147232928 0.00161
NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met) rs183359489 0.00160
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_004393.6(DAG1):c.599C>G (p.Thr200Ser) rs41290704 0.00160
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445 0.00160
NM_153026.3(PRICKLE1):c.2404C>T (p.Pro802Ser) rs150545495 0.00160
NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=) rs138423302 0.00159
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092 0.00159
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met) rs145988230 0.00159
NM_001378030.1(CCDC78):c.384G>T (p.Glu128Asp) rs145274257 0.00159
NM_002160.4(TNC):c.628G>A (p.Gly210Ser) rs144032672 0.00159
NM_003042.4(SLC6A1):c.912C>T (p.Ile304=) rs35450949 0.00159
NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602 0.00159
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405 0.00159
NM_032737.4(LMNB2):c.804C>T (p.Asp268=) rs150969746 0.00159
NM_058246.4(DNAJB6):c.961T>C (p.Ser321Pro) rs147168661 0.00159
NM_152743.4(BRAT1):c.2208G>T (p.Leu736=) rs61753093 0.00159
NM_000110.4(DPYD):c.2180-3T>C rs74104343 0.00158
NM_000435.3(NOTCH3):c.3314G>C (p.Gly1105Ala) rs143764521 0.00158
NM_001164508.2(NEB):c.9181A>T (p.Met3061Leu) rs143473183 0.00158
NM_004646.4(NPHS1):c.3562G>A (p.Ala1188Thr) rs116700257 0.00158
NM_013382.7(POMT2):c.1881G>A (p.Ala627=) rs146588608 0.00158
NM_201384.3(PLEC):c.1955C>T (p.Thr652Ile) rs190470017 0.00158
NM_213599.3(ANO5):c.2698A>C (p.Met900Leu) rs148293985 0.00158
NM_000287.4(PEX6):c.1480-5C>T rs376473597 0.00157
NM_000391.4(TPP1):c.1497T>C (p.Pro499=) rs142672910 0.00157
NM_005477.3(HCN4):c.1518C>T (p.Tyr506=) rs139590882 0.00157
NM_015340.4(LARS2):c.255C>T (p.Tyr85=) rs114881088 0.00157
NM_015443.4(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439 0.00157
NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr) rs139633601 0.00157
NM_018451.5(CPAP):c.175A>G (p.Thr59Ala) rs138732534 0.00157
NM_020919.4(ALS2):c.1816-8C>T rs185911369 0.00157
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=) rs113253213 0.00157
NM_182914.3(SYNE2):c.7898A>G (p.Asn2633Ser) rs190582637 0.00157
NM_201384.3(PLEC):c.2458-8C>T rs201818691 0.00157
NM_012301.4(MAGI2):c.2142G>A (p.Pro714=) rs144574076 0.00156
NM_013275.6(ANKRD11):c.5738C>A (p.Thr1913Asn) rs142373563 0.00156
NM_014846.4(WASHC5):c.1818C>T (p.Pro606=) rs140063111 0.00156
NM_015443.4(KANSL1):c.607G>C (p.Gly203Arg) rs138175526 0.00156
NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=) rs201941844 0.00155
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr) rs138138436 0.00155
NM_024577.4(SH3TC2):c.3813C>T (p.Ser1271=) rs140985600 0.00155
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=) rs139799727 0.00154
NM_005045.4(RELN):c.77C>T (p.Ala26Val) rs144557847 0.00154
NM_013275.6(ANKRD11):c.6746G>A (p.Arg2249His) rs201043388 0.00154
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=) rs118187988 0.00154
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=) rs141215137 0.00153
NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=) rs148852027 0.00153
NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln) rs144051476 0.00153
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=) rs182505786 0.00153
NM_001267550.2(TTN):c.88297G>A (p.Asp29433Asn) rs189202799 0.00153
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217 0.00153
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282 0.00153
NM_014874.4(MFN2):c.1179G>A (p.Met393Ile) rs12069578 0.00153
NM_015295.3(SMCHD1):c.2913+6C>G rs186678728 0.00153
NM_020247.5(COQ8A):c.298G>T (p.Asp100Tyr) rs150696959 0.00153
NM_201384.3(PLEC):c.2551G>A (p.Val851Met) rs200647397 0.00153
NM_201384.3(PLEC):c.8051G>A (p.Arg2684Gln) rs200239963 0.00153
NM_201384.3(PLEC):c.9351C>T (p.Phe3117=) rs200895343 0.00153
NM_000533.5(PLP1):c.-31C>T rs2233695 0.00152
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00152
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=) rs147984237 0.00152
NM_005591.4(MRE11):c.822T>C (p.Leu274=) rs137868143 0.00152
NM_013382.7(POMT2):c.1683T>C (p.Asn561=) rs146307965 0.00152
NM_152743.4(BRAT1):c.1828C>T (p.Arg610Trp) rs61753094 0.00152
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=) rs1805029 0.00151
NM_001083961.2(WDR62):c.253G>A (p.Val85Met) rs146274964 0.00151
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys) rs185594460 0.00151
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) rs181099904 0.00151
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) rs45617636 0.00151
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val) rs184018403 0.00151
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00151
NM_025137.4(SPG11):c.3436A>G (p.Ile1146Val) rs114945876 0.00151
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=) rs139590550 0.00151
NM_201384.3(PLEC):c.6507G>A (p.Lys2169=) rs199866902 0.00151
NM_000533.5(PLP1):c.168A>G (p.Gln56=) rs2233697 0.00150
NM_001009944.3(PKD1):c.10325C>T (p.Ala3442Val) rs144593342 0.00150
NM_004006.3(DMD):c.2971G>C (p.Glu991Gln) rs72468667 0.00150
NM_006790.3(MYOT):c.445G>C (p.Glu149Gln) rs71578935 0.00150
NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu) rs146205997 0.00150
NM_016929.5(CLIC5):c.477G>T (p.Glu159Asp) rs148377014 0.00150
NM_021098.3(CACNA1H):c.819C>T (p.Thr273=) rs72552033 0.00150
NM_022489.4(INF2):c.264C>T (p.Gly88=) rs201587219 0.00150
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) rs140679502 0.00150
NM_201384.3(PLEC):c.3543C>T (p.Val1181=) rs202185399 0.00150
NM_004115.4(FGF14):c.636T>C (p.His212=) rs41281644 0.00149
NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His) rs147919567 0.00149
NM_022489.4(INF2):c.558C>T (p.Ser186=) rs150714865 0.00149
NM_198994.3(TGM6):c.1523G>A (p.Gly508Asp) rs140719871 0.00149
NM_201525.4(ADGRG1):c.1287-28G>C rs60624815 0.00149
NM_001130438.3(SPTAN1):c.5460G>A (p.Ala1820=) rs140191388 0.00148
NM_001267550.2(TTN):c.33416G>C (p.Arg11139Thr) rs72650040 0.00148
NM_001378452.1(ITPR1):c.2007-3T>C rs200335594 0.00148
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) rs138886791 0.00148
NM_025137.4(SPG11):c.4744-6T>C rs147550048 0.00148
NM_000368.5(TSC1):c.1701G>A (p.Ala567=) rs35478675 0.00147
NM_001267550.2(TTN):c.11254+2T>C rs199565715 0.00147
NM_024577.4(SH3TC2):c.1177+10G>A rs139257109 0.00147
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe) rs139334167 0.00147
NM_153033.5(KCTD7):c.384G>A (p.Glu128=) rs145238250 0.00147
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn) rs146366996 0.00147
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976 0.00146
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=) rs189768015 0.00146
NM_001961.4(EEF2):c.1549C>T (p.Leu517=) rs148099639 0.00146
NM_016239.4(MYO15A):c.4719G>A (p.Ala1573=) rs186426892 0.00146
NM_201384.3(PLEC):c.12817C>T (p.Pro4273Ser) rs202040785 0.00146
NM_201384.3(PLEC):c.8509G>A (p.Glu2837Lys) rs199661077 0.00146
NM_000083.3(CLCN1):c.651C>T (p.Val217=) rs144109732 0.00145
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr) rs200037070 0.00145
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg) rs200573434 0.00145
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=) rs149898088 0.00145
NM_001009944.3(PKD1):c.2235C>G (p.Ala745=) rs533569454 0.00144
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898 0.00144
NM_001267550.2(TTN):c.85406C>G (p.Ser28469Cys) rs202040332 0.00144
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615 0.00144
NM_013275.6(ANKRD11):c.6725C>T (p.Ala2242Val) rs372632879 0.00144
NM_030962.4(SBF2):c.2337C>T (p.Ser779=) rs140730386 0.00144
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=) rs138661755 0.00144
NM_201384.3(PLEC):c.6408G>A (p.Glu2136=) rs200444977 0.00144
NM_000098.3(CPT2):c.932A>G (p.Asn311Ser) rs142790440 0.00143
NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=) rs186541002 0.00143
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196 0.00143
NM_004315.6(ASAH1):c.108_114del (p.Ser36fs) rs548868946 0.00143
NM_012301.4(MAGI2):c.219C>T (p.Pro73=) rs148240352 0.00143
NM_015046.7(SETX):c.7101A>G (p.Gly2367=) rs79233884 0.00143
NM_020247.5(COQ8A):c.1824C>T (p.Ser608=) rs141270350 0.00143
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met) rs145804755 0.00143
NM_201384.3(PLEC):c.11208G>A (p.Pro3736=) rs200273549 0.00143
NM_201384.3(PLEC):c.6198G>T (p.Gln2066His) rs201574539 0.00143
NM_013275.6(ANKRD11):c.3660G>A (p.Arg1220=) rs150015583 0.00142
NM_016239.4(MYO15A):c.54G>A (p.Lys18=) rs144909486 0.00142
NM_000336.3(SCNN1B):c.147A>G (p.Lys49=) rs80027401 0.00141
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=) rs2229919 0.00141
NM_001126108.2(SLC12A3):c.2190C>T (p.Leu730=) rs150692587 0.00141
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386 0.00141
NM_020247.5(COQ8A):c.1914C>T (p.Ser638=) rs56043893 0.00141
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_201384.3(PLEC):c.8625C>T (p.Pro2875=) rs183401234 0.00141
NM_201384.3(PLEC):c.8660A>G (p.Lys2887Arg) rs201655861 0.00141
NM_000089.4(COL1A2):c.1350+11A>T rs193922160 0.00140
NM_000540.3(RYR1):c.11141+7A>G rs78350770 0.00140
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=) rs190336010 0.00140
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser) rs193224180 0.00140
NM_001378452.1(ITPR1):c.5889C>T (p.Asp1963=) rs377489220 0.00140
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00140
NM_004646.4(NPHS1):c.1638T>G (p.Thr546=) rs115444936 0.00140
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys) rs114684479 0.00140
NM_006096.4(NDRG1):c.31G>A (p.Ala11Thr) rs145871479 0.00140
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483 0.00140
NM_000142.5(FGFR3):c.678C>T (p.Tyr226=) rs141575580 0.00139
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642 0.00139
NM_001267550.2(TTN):c.58612A>G (p.Thr19538Ala) rs200017524 0.00139
NM_002693.3(POLG):c.1890C>T (p.Asn630=) rs148658588 0.00139
NM_014846.4(WASHC5):c.*3del rs569426560 0.00139
NM_033380.3(COL4A5):c.3148C>T (p.Pro1050Ser) rs143945573 0.00139
NM_000435.3(NOTCH3):c.6237G>A (p.Gly2079=) rs376598183 0.00138
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438 0.00138
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=) rs202185465 0.00138
NM_022464.5(SIL1):c.1030-14G>A rs184154914 0.00138
NM_173500.4(TTBK2):c.3185C>T (p.Thr1062Ile) rs55833708 0.00138
NM_181882.3(PRX):c.3947C>T (p.Ala1316Val) rs142762689 0.00138
NM_182914.3(SYNE2):c.19135C>T (p.Arg6379Cys) rs141741640 0.00138
NM_198578.4(LRRK2):c.356T>C (p.Leu119Pro) rs33995463 0.00138
NM_000088.4(COL1A1):c.2236-17C>G rs193922146 0.00137
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu) rs61758732 0.00137
NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=) rs145322467 0.00137
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211 0.00137
NM_014855.3(AP5Z1):c.1563G>A (p.Leu521=) rs182411153 0.00137
NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=) rs183447491 0.00137
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys) rs149030452 0.00137
NM_000338.3(SLC12A1):c.189G>A (p.Arg63=) rs35240149 0.00136
NM_000352.6(ABCC8):c.822+20C>T rs181998151 0.00136
NM_001042472.3(ABHD12):c.1113G>A (p.Arg371=) rs146028040 0.00136
NM_001080414.4(CCDC88C):c.3900C>T (p.Phe1300=) rs199536020 0.00136
NM_001166114.2(PNPLA6):c.2385C>T (p.His795=) rs143914980 0.00136
NM_001330078.2(NRXN1):c.501C>G (p.Leu167=) rs200248561 0.00136
NM_007078.3(LDB3):c.1422G>A (p.Ser474=) rs142625982 0.00136
NM_000484.4(APP):c.1795G>A (p.Glu599Lys) rs140304729 0.00135
NM_004006.3(DMD):c.7472A>G (p.Gln2491Arg) rs147694734 0.00135
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys) rs141280063 0.00135
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr) rs58173258 0.00135
NM_032193.4(RNASEH2C):c.-10A>G rs77371161 0.00135
NM_173500.4(TTBK2):c.1105C>T (p.Pro369Ser) rs202237707 0.00135
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221 0.00134
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=) rs200799870 0.00134
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) rs201148948 0.00134
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) rs114986640 0.00134
NM_001164508.2(NEB):c.1206C>T (p.Cys402=) rs199695976 0.00134
NM_001267550.2(TTN):c.10104T>G (p.Val3368=) rs142460433 0.00134
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=) rs371802557 0.00134
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg) rs201158906 0.00134
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr) rs72647885 0.00134
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) rs142967124 0.00134
NM_182961.4(SYNE1):c.23480C>G (p.Ala7827Gly) rs141315921 0.00134
NM_201384.3(PLEC):c.174+10del rs528031000 0.00134
NM_000334.4(SCN4A):c.2854-5C>T rs374039266 0.00133
NM_000540.3(RYR1):c.7615-7G>A rs146159174 0.00133
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=) rs147263499 0.00133
NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln) rs200431386 0.00133
NM_001267550.2(TTN):c.16621+7A>T rs10200398 0.00133
NM_001367561.1(DOCK7):c.125A>G (p.Asn42Ser) rs143701798 0.00133
NM_006790.3(MYOT):c.981T>C (p.Asn327=) rs148479015 0.00133
NM_014053.4(FLVCR1):c.738+9T>C rs41296696 0.00133
NM_017882.3(CLN6):c.339G>A (p.Thr113=) rs146135801 0.00133
NM_018136.5(ASPM):c.646G>A (p.Glu216Lys) rs151050191 0.00133
NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala) rs141649676 0.00133
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu) rs115534729 0.00133
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=) rs35379711 0.00133
NM_201384.3(PLEC):c.9333G>A (p.Gly3111=) rs188739870 0.00133
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) rs187327463 0.00132
NM_005445.4(SMC3):c.2329T>C (p.Leu777=) rs76625999 0.00132
NM_024570.4(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326 0.00132
NM_201384.3(PLEC):c.11524G>A (p.Glu3842Lys) rs187011732 0.00132
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00131
NM_001080414.4(CCDC88C):c.3202G>T (p.Ala1068Ser) rs201044013 0.00131
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=) rs16009 0.00131
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=) rs375628894 0.00131
NM_001244008.2(KIF1A):c.2445-8C>T rs200705912 0.00131
NM_001278116.2(L1CAM):c.396C>T (p.Ala132=) rs144708625 0.00131
NM_001370298.3(FGD4):c.2560G>A (p.Val854Met) rs61753359 0.00131
NM_002156.5(HSPD1):c.425G>A (p.Arg142Lys) rs61755731 0.00131
NM_002156.5(HSPD1):c.700+8C>T rs185384719 0.00131
NM_002160.4(TNC):c.2374G>T (p.Gly792Cys) rs150868783 0.00131
NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn) rs141553756 0.00131
NM_005529.7(HSPG2):c.204C>A (p.Asp68Glu) rs1869780 0.00131
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060 0.00131
NM_016341.4(PLCE1):c.1495C>T (p.Arg499Cys) rs61751493 0.00131
NM_021098.3(CACNA1H):c.6653G>A (p.Arg2218His) rs56885166 0.00131
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn) rs201386977 0.00131
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136 0.00131
NM_181882.3(PRX):c.1574T>C (p.Val525Ala) rs149715830 0.00131
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp) rs61734354 0.00130
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002 0.00130
NM_002055.5(GFAP):c.675C>T (p.Asp225=) rs146443487 0.00130
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130 0.00130
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958 0.00129
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_001267550.2(TTN):c.35409T>G (p.Ile11803Met) rs186992412 0.00129
NM_004115.4(FGF14):c.373A>G (p.Ile125Val) rs34073982 0.00129
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg) rs142736845 0.00129
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met) rs111033393 0.00129
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00128
NM_000371.4(TTR):c.360C>T (p.Ser120=) rs150127220 0.00128
NM_001001331.4(ATP2B2):c.1353G>A (p.Leu451=) rs139459100 0.00128
NM_001009944.3(PKD1):c.8364G>A (p.Ser2788=) rs145176597 0.00128
NM_001267550.2(TTN):c.1002C>T (p.Thr334=) rs148094198 0.00128
NM_001267550.2(TTN):c.36285C>T (p.His12095=) rs201184203 0.00128
NM_001365536.1(SCN9A):c.3509T>C (p.Ile1170Thr) rs73019664 0.00128
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837 0.00128
NM_014845.6(FIG4):c.446+9G>A rs190287033 0.00128
NM_016373.4(WWOX):c.1035G>A (p.Ala345=) rs189695070 0.00128
NM_020451.3(SELENON):c.729G>A (p.Pro243=) rs139020143 0.00128
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349 0.00128
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00127
NM_000083.3(CLCN1):c.1480T>C (p.Phe494Leu) rs147493705 0.00127
NM_000170.3(GLDC):c.1618A>C (p.Lys540Gln) rs140516872 0.00127
NM_000458.4(HNF1B):c.951C>G (p.Ala317=) rs145750370 0.00127
NM_003119.4(SPG7):c.4G>A (p.Ala2Thr) rs535030441 0.00127
NM_003482.4(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524 0.00127
NM_020247.5(COQ8A):c.989A>G (p.Tyr330Cys) rs150243147 0.00127
NM_182914.3(SYNE2):c.10313G>A (p.Cys3438Tyr) rs144108695 0.00127
NM_182961.4(SYNE1):c.21781C>A (p.Arg7261=) rs138032057 0.00127
NM_000540.3(RYR1):c.7923C>G (p.Leu2641=) rs142558977 0.00126
NM_000756.4(CRH):c.456G>A (p.Arg152=) rs144205489 0.00126
NM_001199107.2(TBC1D24):c.-7C>T rs199852092 0.00126
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln) rs148849567 0.00126
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val) rs147810437 0.00126
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590 0.00126
NM_005476.7(GNE):c.1872G>A (p.Ala624=) rs145361930 0.00126
NM_152743.4(BRAT1):c.1579C>T (p.Leu527=) rs151161353 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000748.3(CHRNB2):c.1235G>A (p.Gly412Asp) rs112585933 0.00125
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204 0.00125
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=) rs61736168 0.00125
NM_001367561.1(DOCK7):c.3935C>T (p.Thr1312Met) rs59558623 0.00125
NM_001458.5(FLNC):c.597C>T (p.Ala199=) rs143942649 0.00125
NM_002160.4(TNC):c.61G>A (p.Glu21Lys) rs141126037 0.00125
NM_002547.3(OPHN1):c.1839A>G (p.Glu613=) rs146588152 0.00125
NM_004320.6(ATP2A1):c.159G>A (p.Val53=) rs148925426 0.00125
NM_006946.4(SPTBN2):c.1972C>T (p.Arg658Trp) rs199968321 0.00125
NM_007078.3(LDB3):c.689+10G>A rs45563234 0.00125
NM_020919.4(ALS2):c.3517G>A (p.Glu1173Lys) rs41309046 0.00125
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500 0.00125
NM_032409.3(PINK1):c.67G>A (p.Gly23Ser) rs551542832 0.00125
NM_198994.3(TGM6):c.1216G>A (p.Glu406Lys) rs144338465 0.00125
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576 0.00124
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562 0.00124
NM_001304438.2(TMEM132E):c.915C>T (p.Pro305=) rs140315218 0.00124
NM_001845.6(COL4A1):c.3877-8G>A rs370539477 0.00124
NM_004006.3(DMD):c.5265C>T (p.Pro1755=) rs145515413 0.00124
NM_005445.4(SMC3):c.1671-6A>G rs200848781 0.00124
NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser) rs139037316 0.00124
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln) rs528000488 0.00124
NM_153700.2(STRC):c.5200T>C (p.Trp1734Arg) rs200770543 0.00124
NM_000336.3(SCNN1B):c.1887C>T (p.Asp629=) rs61759917 0.00123
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060 0.00123
NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp) rs76368635 0.00123
NM_006996.3(SLC19A2):c.639G>A (p.Lys213=) rs137970656 0.00123
NM_012232.6(CAVIN1):c.540G>A (p.Glu180=) rs143511306 0.00123
NM_021098.3(CACNA1H):c.4778-5C>T rs72552061 0.00123
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_173660.5(DOK7):c.831C>T (p.Ala277=) rs150549589 0.00123
NM_198994.3(TGM6):c.956G>A (p.Arg319Gln) rs148376598 0.00123
NM_201384.3(PLEC):c.9034G>A (p.Glu3012Lys) rs200898220 0.00123
NM_000525.4(KCNJ11):c.584G>A (p.Arg195His) rs5217 0.00122
NM_000744.7(CHRNA4):c.978C>T (p.Phe326=) rs76270730 0.00122
NM_001009944.3(PKD1):c.11717G>T (p.Cys3906Phe) rs369291413 0.00122
NM_001961.4(EEF2):c.2415C>T (p.Gly805=) rs143122141 0.00122
NM_194248.3(OTOF):c.2381G>A (p.Arg794His) rs80356592 0.00122
NM_000352.6(ABCC8):c.1177-56G>A rs183921963 0.00121
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=) rs138141427 0.00121
NM_000426.4(LAMA2):c.8692A>C (p.Arg2898=) rs200718262 0.00121
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00121
NM_001009944.3(PKD1):c.4654G>A (p.Val1552Ile) rs149874529 0.00121
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520 0.00121
NM_001271.4(CHD2):c.5049C>T (p.Ala1683=) rs139534358 0.00121
NM_001365536.1(SCN9A):c.5791G>C (p.Asp1931His) rs200410805 0.00121
NM_002693.3(POLG):c.2735-7C>G rs200372494 0.00121
NM_015087.5(SPART):c.1172A>G (p.Asp391Gly) rs148833652 0.00121
NM_016630.7(SPG21):c.538G>A (p.Ala180Thr) rs149251662 0.00121
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile) rs148171058 0.00121
NM_022489.4(INF2):c.3612G>A (p.Ser1204=) rs150811244 0.00121
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00121
NM_182961.4(SYNE1):c.9655G>A (p.Val3219Ile) rs140927945 0.00121
NM_000426.4(LAMA2):c.1650C>T (p.Gly550=) rs899353 0.00120
NM_001009944.3(PKD1):c.1281G>A (p.Ala427=) rs141553109 0.00120
NM_002047.4(GARS1):c.1962C>T (p.Ile654=) rs201927627 0.00120
NM_003863.4(DPM2):c.64A>G (p.Thr22Ala) rs7042788 0.00120
NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln) rs142939330 0.00120
NM_012232.6(CAVIN1):c.923A>G (p.Tyr308Cys) rs146799286 0.00120
NM_017882.3(CLN6):c.53C>T (p.Ala18Val) rs547125345 0.00120
NM_173500.4(TTBK2):c.2941C>G (p.Leu981Val) rs180791005 0.00120
NM_182961.4(SYNE1):c.14221C>T (p.Arg4741Cys) rs150062167 0.00120
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664 0.00119
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399 0.00119
NM_001079802.2(FKTN):c.166-4A>G rs193922689 0.00119
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His) rs200971254 0.00119
NM_001378452.1(ITPR1):c.4843-8C>T rs41304179 0.00119
NM_014845.6(FIG4):c.627A>G (p.Leu209=) rs140111406 0.00119
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035 0.00119
NM_018105.3(THAP1):c.71+9C>A rs200209986 0.00119
NM_022089.4(ATP13A2):c.7G>C (p.Ala3Pro) rs549839037 0.00119
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile) rs150861748 0.00119
NM_198576.4(AGRN):c.1570C>T (p.Arg524Trp) rs144164397 0.00119
NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile) rs139747674 0.00119
NM_000162.5(GCK):c.364-18A>G rs191255582 0.00118
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu) rs141493373 0.00118
NM_005529.7(HSPG2):c.12842G>A (p.Arg4281His) rs151184052 0.00118
NM_005529.7(HSPG2):c.5160C>T (p.Ser1720=) rs138980184 0.00118
NM_014467.3(SRPX2):c.840G>A (p.Ala280=) rs139377205 0.00118
NM_201384.3(PLEC):c.3885G>A (p.Pro1295=) rs148465219 0.00118
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn) rs142272833 0.00117
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys) rs72648939 0.00117
NM_001267550.2(TTN):c.44529C>T (p.His14843=) rs55973744 0.00117
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln) rs200212521 0.00117
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=) rs72648255 0.00117
NM_001379500.1(COL18A1):c.1254C>T (p.Asp418=) rs368594049 0.00117
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492 0.00117
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) rs144334281 0.00117
NM_032737.4(LMNB2):c.255C>G (p.Thr85=) rs201524951 0.00117
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) rs149506027 0.00117
NM_176787.5(PIGN):c.2238A>G (p.Ile746Met) rs200658159 0.00117
NM_201384.3(PLEC):c.12784G>A (p.Val4262Ile) rs142946078 0.00117
NM_001164508.2(NEB):c.4221G>A (p.Gln1407=) rs6709752 0.00116
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958 0.00116
NM_001267550.2(TTN):c.32555-6T>C rs375742678 0.00116
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_005477.3(HCN4):c.1356C>T (p.Ser452=) rs148453034 0.00116
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787 0.00116
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00116
NM_182914.3(SYNE2):c.7163A>G (p.Glu2388Gly) rs45590135 0.00116
NM_182961.4(SYNE1):c.19692+3G>A rs150304757 0.00116
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile) rs141858284 0.00116
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=) rs146424389 0.00116
NM_201384.3(PLEC):c.7753G>C (p.Glu2585Gln) rs200488179 0.00116
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu) rs201089582 0.00116
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu) rs193922358 0.00115
NM_000268.4(NF2):c.12C>T (p.Ala4=) rs144477078 0.00115
NM_000337.6(SGCD):c.213G>A (p.Arg71=) rs74846539 0.00115
NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=) rs199569478 0.00115
NM_001009944.3(PKD1):c.588C>T (p.Ser196=) rs776302294 0.00115
NM_001145809.2(MYH14):c.1944C>T (p.Asp648=) rs189243324 0.00115
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_001378120.1(MBD5):c.3978C>T (p.Val1326=) rs35692977 0.00115
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys) rs137979116 0.00115
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00115
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu) rs141715950 0.00115
NM_018943.3(TUBA8):c.324C>T (p.Tyr108=) rs2234327 0.00115
NM_032119.4(ADGRV1):c.11805C>T (p.Asn3935=) rs144269892 0.00115
NM_033305.3(VPS13A):c.6690C>T (p.Asp2230=) rs139115188 0.00115
NM_153638.4(PANK2):c.281G>C (p.Arg94Pro) rs71647827 0.00115
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu) rs138004884 0.00115
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385 0.00114
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr) rs201767727 0.00114
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=) rs138968178 0.00114
NM_001961.4(EEF2):c.1151-7C>T rs200181170 0.00114
NM_005055.5(RAPSN):c.474C>T (p.Asp158=) rs56245238 0.00114
NM_032119.4(ADGRV1):c.207+3A>G rs142356935 0.00114
NM_000069.3(CACNA1S):c.3795+3G>A rs191758096 0.00113
NM_001005361.3(DNM2):c.1782-5C>T rs200103145 0.00113
NM_001130438.3(SPTAN1):c.1737C>T (p.Phe579=) rs143941068 0.00113
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr) rs141867897 0.00113
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) rs140640738 0.00113
NM_001267550.2(TTN):c.56970T>C (p.Pro18990=) rs372019333 0.00113
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) rs149567378 0.00113
NM_001849.4(COL6A2):c.2599C>T (p.Arg867Trp) rs144484744 0.00113
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu) rs45495192 0.00113
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys) rs3747835 0.00113
NM_015087.5(SPART):c.75A>G (p.Leu25=) rs148399669 0.00113
NM_015346.4(ZFYVE26):c.7533C>T (p.Ser2511=) rs147494935 0.00113
NM_015346.4(ZFYVE26):c.773G>A (p.Arg258Gln) rs150230201 0.00113
NM_021098.3(CACNA1H):c.2057C>T (p.Pro686Leu) rs145376050 0.00113
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00112
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654 0.00112
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met) rs115119858 0.00112
NM_002087.4(GRN):c.970G>A (p.Ala324Thr) rs63750541 0.00112
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) rs148262378 0.00112
NM_015634.4(KIFBP):c.615G>A (p.Lys205=) rs146627673 0.00112
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=) rs3219166 0.00112
NM_153700.2(STRC):c.4917A>C (p.Leu1639=) rs2860666 0.00112
NM_201384.3(PLEC):c.4556C>T (p.Ser1519Leu) rs182120395 0.00112
NM_000304.4(PMP22):c.178+7C>A rs147885521 0.00111
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=) rs150380620 0.00111
NM_001278064.2(GRM1):c.1433+10T>C rs373538200 0.00111
NM_002335.4(LRP5):c.2193C>T (p.Asn731=) rs147388442 0.00111
NM_004924.6(ACTN4):c.2680G>A (p.Gly894Ser) rs141002044 0.00111
NM_005506.4(SCARB2):c.246G>C (p.Arg82=) rs35035064 0.00111
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00111
NM_013275.6(ANKRD11):c.6730G>A (p.Val2244Ile) rs200852197 0.00111
NM_014363.6(SACS):c.13374C>T (p.Phe4458=) rs148914536 0.00111
NM_182914.3(SYNE2):c.7643+6T>C rs144143344 0.00111
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr) rs200510532 0.00110
NM_000335.5(SCN5A):c.1236C>T (p.Val412=) rs45565936 0.00110
NM_001164508.2(NEB):c.177G>A (p.Gln59=) rs200990309 0.00110
NM_001267550.2(TTN):c.49371A>T (p.Leu16457=) rs146163169 0.00110
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) rs55663050 0.00110
NM_001278064.2(GRM1):c.2991A>G (p.Ala997=) rs140244084 0.00110
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=) rs56402642 0.00110
NM_002641.4(PIGA):c.*7G>T rs142178534 0.00110
NM_003896.4(ST3GAL5):c.155G>A (p.Arg52Gln) rs141917910 0.00110
NM_004006.3(DMD):c.5984A>T (p.Tyr1995Phe) rs147927593 0.00110
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455 0.00110
NM_014053.4(FLVCR1):c.1624C>T (p.Pro542Ser) rs141575859 0.00110
NM_020686.6(ABAT):c.1186A>G (p.Ile396Val) rs150914629 0.00110
NM_021098.3(CACNA1H):c.1059C>T (p.Asn353=) rs59310656 0.00110
NM_145207.3(AFG2A):c.1131G>A (p.Glu377=) rs139089747 0.00110
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys) rs140383655 0.00110
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=) rs35686213 0.00110
NM_201384.3(PLEC):c.5391C>T (p.Arg1797=) rs551187778 0.00110
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=) rs45487992 0.00109
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val) rs185341934 0.00109
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=) rs142483266 0.00109
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=) rs55832587 0.00109
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro) rs72648930 0.00109
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=) rs200088963 0.00109
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=) rs55956577 0.00109
NM_004977.3(KCNC3):c.1215C>T (p.Ala405=) rs116590290 0.00109
NM_005591.4(MRE11):c.426C>T (p.Asp142=) rs3218740 0.00109
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=) rs140034972 0.00109
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647 0.00109
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192 0.00108
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) rs113811959 0.00108
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721 0.00108
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00108
NM_001267550.2(TTN):c.12986G>A (p.Arg4329Lys) rs199560188 0.00108
NM_001267550.2(TTN):c.15542G>C (p.Gly5181Ala) rs201185434 0.00108
NM_001267550.2(TTN):c.16422A>G (p.Gln5474=) rs371026448 0.00108
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr) rs148617456 0.00108
NM_001267550.2(TTN):c.95148C>T (p.Thr31716=) rs140663434 0.00108
NM_001378452.1(ITPR1):c.4254G>T (p.Val1418=) rs142527379 0.00108
NM_001961.4(EEF2):c.1677G>A (p.Lys559=) rs146823249 0.00108
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln) rs149824485 0.00108
NM_006772.3(SYNGAP1):c.3134C>G (p.Ala1045Gly) rs139759084 0.00108
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270 0.00108
NM_022089.4(ATP13A2):c.2348G>A (p.Arg783Gln) rs137955309 0.00108
NM_024577.4(SH3TC2):c.1299G>A (p.Ser433=) rs140904010 0.00108
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln) rs139192433 0.00108
NM_181882.3(PRX):c.823C>A (p.Leu275Ile) rs200033507 0.00108
NM_000162.5(GCK):c.660C>T (p.Cys220=) rs142952813 0.00107
NM_001037.5(SCN1B):c.588T>C (p.Asn196=) rs77244433 0.00107
NM_001127222.2(CACNA1A):c.1914-4G>A rs191026552 0.00107
NM_001267550.2(TTN):c.12733A>C (p.Asn4245His) rs199652066 0.00107
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met) rs150661999 0.00107
NM_001365999.1(SZT2):c.4983T>C (p.Asp1661=) rs139810154 0.00107
NM_001614.5(ACTG1):c.72C>T (p.Asp24=) rs139517777 0.00107
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_004646.4(NPHS1):c.3482-7A>T rs73928326 0.00107
NM_021098.3(CACNA1H):c.385G>A (p.Gly129Ser) rs187596702 0.00107
NM_025219.3(DNAJC5):c.107+10C>T rs181906972 0.00107
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00107
NM_182914.3(SYNE2):c.7128A>G (p.Pro2376=) rs117423703 0.00107
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=) rs141671123 0.00107
NM_198576.4(AGRN):c.3765G>A (p.Ala1255=) rs149490453 0.00107
NM_201384.3(PLEC):c.3070G>A (p.Ala1024Thr) rs376665854 0.00107
NM_000337.6(SGCD):c.144G>C (p.Val48=) rs372152495 0.00106
NM_001048166.1(STIL):c.2362G>A (p.Val788Ile) rs149697952 0.00106
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=) rs186699871 0.00106
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477 0.00106
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00106
NM_001370298.3(FGD4):c.2070C>G (p.Ala690=) rs188104446 0.00106
NM_001379500.1(COL18A1):c.3837G>A (p.Ser1279=) rs113315760 0.00106
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457 0.00106
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile) rs4870093 0.00106
NM_001009944.3(PKD1):c.580G>A (p.Ala194Thr) rs769369111 0.00105
NM_001080414.4(CCDC88C):c.1878G>C (p.Lys626Asn) rs78468999 0.00105
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764 0.00105
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met) rs145956175 0.00105
NM_001244008.2(KIF1A):c.3246C>T (p.Ala1082=) rs368682964 0.00105
NM_001267550.2(TTN):c.13287T>C (p.Ala4429=) rs370604524 0.00105
NM_001267550.2(TTN):c.61138C>A (p.Leu20380Met) rs201167216 0.00105
NM_001845.6(COL4A1):c.3506-7C>G rs377592935 0.00105
NM_003919.3(SGCE):c.606A>G (p.Thr202=) rs148979783 0.00105
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) rs143558324 0.00105
NM_021098.3(CACNA1H):c.3115G>A (p.Glu1039Lys) rs140421233 0.00105
NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met) rs146567178 0.00105
NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn) rs142388112 0.00105
NM_201384.3(PLEC):c.2844C>T (p.Pro948=) rs200482255 0.00105
NM_000371.4(TTR):c.417G>A (p.Thr139=) rs2276382 0.00104
NM_001164508.2(NEB):c.8202C>T (p.Val2734=) rs144595998 0.00104
NM_001267550.2(TTN):c.16055-9A>C rs368897883 0.00104
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500 0.00104
NM_001267550.2(TTN):c.24150C>T (p.Ser8050=) rs185062935 0.00104
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=) rs188584219 0.00104
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys) rs146496197 0.00104
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840 0.00104
NM_004977.3(KCNC3):c.315G>C (p.Thr105=) rs368049323 0.00104
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999 0.00104
NM_201384.3(PLEC):c.10203C>T (p.Pro3401=) rs201096903 0.00104
NM_000334.4(SCN4A):c.1011T>C (p.Asp337=) rs372791798 0.00103
NM_000545.8(HNF1A):c.1704C>T (p.Pro568=) rs148520816 0.00103
NM_000545.8(HNF1A):c.1722C>A (p.Ser574Arg) rs141304623 0.00103
NM_001009944.3(PKD1):c.2266G>A (p.Ala756Thr) rs763021570 0.00103
NM_001042432.2(CLN3):c.768C>T (p.Thr256=) rs145967477 0.00103
NM_001267550.2(TTN):c.101406C>G (p.Val33802=) rs55802460 0.00103
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn) rs200692495 0.00103
NM_001267550.2(TTN):c.22692A>T (p.Thr7564=) rs187182557 0.00103
NM_001371727.1(GABRB2):c.747A>T (p.Thr249=) rs145570974 0.00103
NM_004839.4(HOMER2):c.234C>T (p.Ala78=) rs200280749 0.00103
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met) rs145687082 0.00103
NM_005591.4(MRE11):c.1798G>C (p.Glu600Gln) rs145415033 0.00103
NM_006796.3(AFG3L2):c.1319-7C>T rs182327153 0.00103
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_024306.5(FA2H):c.537G>A (p.Leu179=) rs75711361 0.00103
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala) rs145565705 0.00103
NM_133642.5(LARGE1):c.408+8G>A rs141818070 0.00103
NM_000170.3(GLDC):c.498T>C (p.Pro166=) rs150193069 0.00102
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121 0.00102
NM_001009944.3(PKD1):c.2192C>T (p.Pro731Leu) rs979342927 0.00102
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769 0.00102
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) rs201562505 0.00102
NM_001378452.1(ITPR1):c.4288A>G (p.Ile1430Val) rs3749383 0.00102
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00102
NM_004924.6(ACTN4):c.2016C>T (p.Ile672=) rs137985903 0.00102
NM_006096.4(NDRG1):c.789G>A (p.Ser263=) rs61755062 0.00102
NM_006420.3(ARFGEF2):c.811C>G (p.Pro271Ala) rs143570842 0.00102
NM_006516.4(SLC2A1):c.507C>T (p.Leu169=) rs115541691 0.00102
NM_013382.7(POMT2):c.1593G>A (p.Leu531=) rs147934334 0.00102
NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln) rs148008634 0.00102
NM_000142.5(FGFR3):c.2043G>A (p.Gly681=) rs17883356 0.00101
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) rs148405563 0.00101
NM_000525.4(KCNJ11):c.678C>T (p.Pro226=) rs74162102 0.00101
NM_001029896.2(WDR45):c.351C>T (p.Ile117=) rs140596058 0.00101
NM_001256545.2(MEGF10):c.3026-8C>T rs185480820 0.00101
NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser) rs201005813 0.00101
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala) rs56137800 0.00101
NM_001267550.2(TTN):c.82497C>T (p.Thr27499=) rs199629314 0.00101
NM_004960.4(FUS):c.1566G>A (p.Arg522=) rs138901914 0.00101
NM_005529.7(HSPG2):c.4488G>A (p.Thr1496=) rs372318754 0.00101
NM_006279.5(ST3GAL3):c.118+10G>C rs147330005 0.00101
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893 0.00101
NM_016341.4(PLCE1):c.513G>A (p.Val171=) rs61749239 0.00101
NM_018136.5(ASPM):c.6125A>G (p.Asp2042Gly) rs150327858 0.00101
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn) rs139188673 0.00101
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn) rs142422990 0.00101
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933 0.00101
NM_201384.3(PLEC):c.4980C>T (p.Ala1660=) rs199612329 0.00101
NM_000100.4(CSTB):c.121G>A (p.Val41Met) rs143153487 0.00100
NM_001244008.2(KIF1A):c.4875G>A (p.Pro1625=) rs201418175 0.00100
NM_001365999.1(SZT2):c.7975-10C>T rs181831231 0.00100
NM_001371623.1(TCOF1):c.1120G>T (p.Ala374Ser) rs112039991 0.00100
NM_021098.3(CACNA1H):c.1702G>A (p.Asp568Asn) rs61056448 0.00100
NM_024884.3(L2HGDH):c.510G>A (p.Glu170=) rs151305613 0.00100
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=) rs140136749 0.00100
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343 0.00100
NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met) rs56240927 0.00099
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=) rs148700620 0.00099
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=) rs56026369 0.00099
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile) rs72649002 0.00099
NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala) rs150682764 0.00099
NM_002739.5(PRKCG):c.642G>A (p.Thr214=) rs77550964 0.00099
NM_004393.6(DAG1):c.278T>C (p.Ile93Thr) rs149218670 0.00099
NM_005529.7(HSPG2):c.149A>T (p.His50Leu) rs138518139 0.00099
NM_020919.4(ALS2):c.3046C>G (p.Pro1016Ala) rs41308840 0.00099
NM_182914.3(SYNE2):c.11479G>C (p.Val3827Leu) rs138514054 0.00099
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00098
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959 0.00098
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005 0.00098
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053 0.00098
NM_000458.4(HNF1B):c.1045+12T>C rs141166864 0.00098
NM_001113491.2(SEPTIN9):c.710G>A (p.Arg237Gln) rs200031107 0.00098
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793 0.00098
NM_005045.4(RELN):c.474-7T>C rs55693709 0.00098
NM_005045.4(RELN):c.5200C>G (p.Leu1734Val) rs362800 0.00098
NM_005045.4(RELN):c.6141C>T (p.Phe2047=) rs79161241 0.00098
NM_005413.4(SIX3):c.219C>T (p.Pro73=) rs186163123 0.00098
NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=) rs146167897 0.00098
NM_014846.4(WASHC5):c.647C>T (p.Pro216Leu) rs72720524 0.00098
NM_016341.4(PLCE1):c.5782G>A (p.Val1928Ile) rs202171627 0.00098
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr) rs141068211 0.00098
NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe) rs138039375 0.00098
NM_182961.4(SYNE1):c.4031G>A (p.Arg1344Gln) rs144566713 0.00098
NM_182961.4(SYNE1):c.7156A>G (p.Ile2386Val) rs147947903 0.00098
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_000142.5(FGFR3):c.193G>A (p.Gly65Arg) rs2305178 0.00097
NM_000209.4(PDX1):c.543C>T (p.Val181=) rs75498935 0.00097
NM_001005361.3(DNM2):c.2061G>A (p.Thr687=) rs149164657 0.00097
NM_001009944.3(PKD1):c.2109C>T (p.His703=) rs527655141 0.00097
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077 0.00097
NM_001161352.2(KCNMA1):c.2015+7G>A rs78670694 0.00097
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=) rs147840220 0.00097
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=) rs371480338 0.00097
NM_006623.4(PHGDH):c.1559C>A (p.Ala520Glu) rs151275800 0.00097
NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys) rs78215018 0.00097
NM_020686.6(ABAT):c.366+10G>A rs61307956 0.00097
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val) rs146636139 0.00097
NM_201384.3(PLEC):c.1969A>T (p.Ser657Cys) rs199843296 0.00097
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_000091.5(COL4A3):c.222G>T (p.Pro74=) rs187950806 0.00096
NM_000426.4(LAMA2):c.1814C>T (p.Thr605Ile) rs112388307 0.00096
NM_001365999.1(SZT2):c.7149C>T (p.Ala2383=) rs60480887 0.00096
NM_005529.7(HSPG2):c.7096G>A (p.Gly2366Arg) rs140476180 0.00096
NM_015295.3(SMCHD1):c.5878+8T>G rs144115061 0.00096
NM_021098.3(CACNA1H):c.1824G>A (p.Leu608=) rs57260464 0.00096
NM_021625.5(TRPV4):c.854-4G>A rs371733585 0.00096
NM_021942.6(TRAPPC11):c.117C>G (p.Ala39=) rs145842147 0.00096
NM_182961.4(SYNE1):c.6484A>T (p.Ser2162Cys) rs144435836 0.00096
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576 0.00096
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117 0.00095
NM_007078.3(LDB3):c.993G>A (p.Ala331=) rs140347820 0.00095
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg) rs190369242 0.00095
NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys) rs3746366 0.00095
NM_001009944.3(PKD1):c.10326G>A (p.Ala3442=) rs141138826 0.00094
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu) rs147950418 0.00094
NM_001242896.3(DEPDC5):c.262A>G (p.Asn88Asp) rs144712084 0.00094
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410 0.00094
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His) rs138853909 0.00094
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=) rs372997298 0.00094
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) rs55892928 0.00094
NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=) rs143495349 0.00094
NM_006772.3(SYNGAP1):c.1776A>G (p.Ser592=) rs150153477 0.00094
NM_020822.3(KCNT1):c.2142G>A (p.Leu714=) rs370580872 0.00094
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033 0.00094
NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser) rs147826200 0.00094
NM_182914.3(SYNE2):c.12572G>A (p.Gly4191Asp) rs145227848 0.00094
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe) rs139059149 0.00093
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243 0.00093
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp) rs143502850 0.00093
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00093
NM_005529.7(HSPG2):c.10512C>T (p.His3504=) rs55875654 0.00093
NM_033305.3(VPS13A):c.2814A>G (p.Pro938=) rs145346590 0.00093
NM_145239.3(PRRT2):c.640G>C (p.Ala214Pro) rs745594874 0.00093
NM_000388.4(CASR):c.6A>C (p.Ala2=) rs112042188 0.00092
NM_000426.4(LAMA2):c.922G>A (p.Glu308Lys) rs146462599 0.00092
NM_001009944.3(PKD1):c.3140C>T (p.Ser1047Leu) rs147910505 0.00092
NM_001009944.3(PKD1):c.5142C>T (p.Phe1714=) rs144663361 0.00092
NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys) rs59148238 0.00092
NM_001378120.1(MBD5):c.3754-9T>C rs370173652 0.00092
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_003673.4(TCAP):c.353C>T (p.Ala118Val) rs143233087 0.00092
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala) rs138481453 0.00092
NM_000083.3(CLCN1):c.2834G>T (p.Gly945Val) rs139659129 0.00091
NM_000257.4(MYH7):c.930T>C (p.Tyr310=) rs111626355 0.00091
NM_000297.4(PKD2):c.1830G>A (p.Ala610=) rs144968710 0.00091
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) rs200092211 0.00091
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=) rs200278701 0.00091
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile) rs139192633 0.00091
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=) rs72646842 0.00091
NM_004082.5(DCTN1):c.280-3C>T rs114364621 0.00091
NM_004977.3(KCNC3):c.1978+3G>A rs373297576 0.00091
NM_004999.4(MYO6):c.3530G>A (p.Arg1177His) rs139664153 0.00091
NM_007325.5(GRIA3):c.1166A>C (p.Lys389Thr) rs146022384 0.00091
NM_014363.6(SACS):c.1378C>T (p.Leu460Phe) rs145213666 0.00091
NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=) rs200412477 0.00091
NM_032409.3(PINK1):c.936G>A (p.Arg312=) rs56200357 0.00091
NM_173500.4(TTBK2):c.3329G>A (p.Arg1110His) rs146279300 0.00091
NM_182961.4(SYNE1):c.6826-6A>G rs183683592 0.00091
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys) rs139954767 0.00091
NM_201384.3(PLEC):c.6594C>T (p.Thr2198=) rs144242254 0.00091
NM_000352.6(ABCC8):c.1630+10C>T rs188075767 0.00090
NM_000500.9(CYP21A2):c.803C>T (p.Pro268Leu) rs61732108 0.00090
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=) rs55938627 0.00090
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu) rs72646899 0.00090
NM_001267550.2(TTN):c.96098G>A (p.Arg32033His) rs200648462 0.00090
NM_001378452.1(ITPR1):c.3057A>G (p.Ser1019=) rs200705345 0.00090
NM_004287.5(GOSR2):c.*1823C>T rs142261376 0.00090
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904 0.00090
NM_021008.4(DEAF1):c.1186G>A (p.Gly396Ser) rs138447102 0.00090
NM_198994.3(TGM6):c.1387G>A (p.Gly463Ser) rs138184667 0.00090
NM_201378.4(PLEC):c.71-11599T>C rs201910266 0.00090
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser) rs200631556 0.00090
NM_000334.4(SCN4A):c.318C>T (p.Ser106=) rs138670794 0.00089
NM_000335.5(SCN5A):c.856G>T (p.Ala286Ser) rs61746118 0.00089
NM_000336.3(SCNN1B):c.1888G>A (p.Val630Ile) rs72654357 0.00089
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val) rs148496347 0.00089
NM_001267550.2(TTN):c.15906C>T (p.Val5302=) rs375179152 0.00089
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601 0.00089
NM_003119.4(SPG7):c.1083G>A (p.Ala361=) rs114135540 0.00089
NM_006946.4(SPTBN2):c.6797C>T (p.Ala2266Val) rs145891813 0.00089
NM_020247.5(COQ8A):c.1876C>T (p.Arg626Cys) rs141725964 0.00089
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=) rs149260051 0.00089
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His) rs36215251 0.00089
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=) rs144813907 0.00088
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=) rs140553130 0.00088
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242 0.00088
NM_001267550.2(TTN):c.18531G>C (p.Val6177=) rs370684491 0.00088
NM_001365536.1(SCN9A):c.2766C>T (p.Arg922=) rs199653503 0.00088
NM_005529.7(HSPG2):c.2335C>T (p.His779Tyr) rs149094407 0.00088
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) rs150508296 0.00088
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile) rs150981983 0.00088
NM_020822.3(KCNT1):c.1134C>T (p.Val378=) rs149960236 0.00088
NM_025243.4(SLC19A3):c.1056C>G (p.Phe352Leu) rs149806390 0.00088
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val) rs41308297 0.00088
NM_033337.3(CAV3):c.40G>A (p.Val14Ile) rs121909281 0.00088
NM_152743.4(BRAT1):c.1792C>T (p.His598Tyr) rs201523118 0.00088
NM_152743.4(BRAT1):c.434C>T (p.Ala145Val) rs140833277 0.00088
NM_201384.3(PLEC):c.8331C>T (p.Tyr2777=) rs141673192 0.00088
NM_000023.4(SGCA):c.329G>A (p.Arg110Gln) rs145697858 0.00087
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034 0.00087
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991 0.00087
NM_001267550.2(TTN):c.95205C>T (p.Asp31735=) rs373182578 0.00087
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622 0.00087
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr) rs116630187 0.00087
NM_012463.4(ATP6V0A2):c.773A>G (p.Glu258Gly) rs141467923 0.00087
NM_014855.3(AP5Z1):c.558C>T (p.Tyr186=) rs371534878 0.00087
NM_014874.4(MFN2):c.891C>T (p.Ala297=) rs11554508 0.00087
NM_018075.5(ANO10):c.963C>T (p.Phe321=) rs149196477 0.00087
NM_032119.4(ADGRV1):c.9447+6G>A rs201481219 0.00087
NM_182914.3(SYNE2):c.6690C>T (p.His2230=) rs138272705 0.00087
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=) rs148240825 0.00087
NM_000548.5(TSC2):c.2784C>T (p.Pro928=) rs45517267 0.00086
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00086
NM_001136472.2(LITAF):c.146C>T (p.Thr49Met) rs141862602 0.00086
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met) rs201437752 0.00086
NM_001267550.2(TTN):c.44784T>C (p.Asp14928=) rs186105748 0.00086
NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr) rs201836227 0.00086
NM_001267550.2(TTN):c.81123G>A (p.Thr27041=) rs181299250 0.00086
NM_002087.4(GRN):c.228C>T (p.Thr76=) rs144736470 0.00086
NM_014874.4(MFN2):c.1452G>A (p.Thr484=) rs150043585 0.00086
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu) rs104894680 0.00086
NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala) rs148634904 0.00086
NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu) rs199861426 0.00086
NM_025137.4(SPG11):c.7161A>T (p.Gln2387His) rs201918221 0.00086
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys) rs188772875 0.00086
NM_182914.3(SYNE2):c.15248A>G (p.Asp5083Gly) rs149617373 0.00086
NM_182961.4(SYNE1):c.9530A>G (p.Asp3177Gly) rs149005052 0.00086
NM_201384.3(PLEC):c.2508G>A (p.Pro836=) rs116385960 0.00086
NM_201384.3(PLEC):c.8976C>T (p.Ile2992=) rs375914011 0.00086
NM_000026.4(ADSL):c.895A>G (p.Met299Val) rs34396910 0.00085
NM_001009944.3(PKD1):c.6078C>T (p.Val2026=) rs147253810 0.00085
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) rs73973139 0.00085
NM_001927.4(DES):c.935A>C (p.Asp312Ala) rs148947510 0.00085
NM_005529.7(HSPG2):c.11671+5G>A rs77527456 0.00085
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041 0.00085
NM_058246.4(DNAJB6):c.429G>C (p.Ala143=) rs150709673 0.00085
NM_201384.3(PLEC):c.4860C>T (p.Ala1620=) rs144880376 0.00085
NM_001267550.2(TTN):c.38311A>G (p.Lys12771Glu) rs551811137 0.00084
NM_001371623.1(TCOF1):c.3339G>A (p.Gln1113=) rs147074393 0.00084
NM_004621.6(TRPC6):c.172C>T (p.Arg58Trp) rs117273916 0.00084
NM_005529.7(HSPG2):c.8381G>A (p.Arg2794Gln) rs141563188 0.00084
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) rs147399860 0.00084
NM_014363.6(SACS):c.1917A>G (p.Ala639=) rs138457742 0.00084
NM_014363.6(SACS):c.8972G>A (p.Arg2991His) rs192610957 0.00084
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=) rs146673563 0.00084
NM_014845.6(FIG4):c.1584-8T>A rs199522051 0.00084
NM_017433.5(MYO3A):c.2214T>C (p.Asn738=) rs34803755 0.00084
NM_175914.5(HNF4A):c.84G>A (p.Ala28=) rs41282026 0.00084
NM_201384.3(PLEC):c.7951C>T (p.Arg2651Trp) rs145977158 0.00084
NM_207346.3(TSEN54):c.959C>T (p.Pro320Leu) rs189860274 0.00084
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=) rs147623093 0.00083
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748 0.00083
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile) rs201432372 0.00083
NM_001845.6(COL4A1):c.2502T>G (p.Pro834=) rs147764548 0.00083
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu) rs192047082 0.00083
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp) rs139063843 0.00083
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp) rs56059137 0.00083
NM_000088.4(COL1A1):c.3993C>T (p.Thr1331=) rs148659814 0.00082
NM_000092.5(COL4A4):c.195T>C (p.Gly65=) rs201278620 0.00082
NM_000268.4(NF2):c.1386C>T (p.Arg462=) rs138354622 0.00082
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00082
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=) rs45486193 0.00082
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) rs145690047 0.00082
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) rs56173891 0.00082
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989 0.00082
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln) rs72648238 0.00082
NM_007126.5(VCP):c.2214A>G (p.Glu738=) rs374391034 0.00082
NM_032634.4(PIGO):c.3163T>C (p.Phe1055Leu) rs147316771 0.00082
NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=) rs139078338 0.00082
NM_201384.3(PLEC):c.3620G>T (p.Arg1207Leu) rs146685404 0.00082
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000352.6(ABCC8):c.4198+18C>T rs373178978 0.00081
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463 0.00081
NM_000545.8(HNF1A):c.1107+9C>G rs17847497 0.00081
NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr) rs202108224 0.00081
NM_001267550.2(TTN):c.28970C>T (p.Ser9657Leu) rs200049911 0.00081
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile) rs183245562 0.00081
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=) rs193022702 0.00081
NM_001365536.1(SCN9A):c.3403C>T (p.Pro1135Ser) rs184563685 0.00081
NM_005529.7(HSPG2):c.8325C>T (p.Gly2775=) rs142011049 0.00081
NM_005548.3(KARS1):c.612A>G (p.Thr204=) rs141539149 0.00081
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_006946.4(SPTBN2):c.2904G>A (p.Thr968=) rs143948660 0.00081
NM_022489.4(INF2):c.1950-10C>T rs199987321 0.00081
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys) rs140613217 0.00081
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_000083.3(CLCN1):c.2207C>T (p.Thr736Ile) rs139757692 0.00080
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly) rs148064565 0.00080
NM_000815.5(GABRD):c.658C>T (p.Arg220Cys) rs139300921 0.00080
NM_001009944.3(PKD1):c.2039A>T (p.Tyr680Phe) rs370141157 0.00080
NM_001009944.3(PKD1):c.8247G>A (p.Ala2749=) rs143265128 0.00080
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_001267550.2(TTN):c.32807-10T>A rs138192315 0.00080
NM_005529.7(HSPG2):c.5433C>T (p.Asn1811=) rs140134749 0.00080
NM_014159.7(SETD2):c.4320A>T (p.Pro1440=) rs74485823 0.00080
NM_015046.7(SETX):c.192A>G (p.Leu64=) rs117326462 0.00080
NM_016239.4(MYO15A):c.9181G>A (p.Glu3061Lys) rs116833707 0.00080
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile) rs202110635 0.00080
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=) rs137919524 0.00080
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00080
NM_201384.3(PLEC):c.2478C>T (p.Asp826=) rs202135215 0.00080
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser) rs149636614 0.00079
NM_000051.4(ATM):c.3517T>C (p.Leu1173=) rs141460670 0.00079
NM_000497.4(CYP11B1):c.459T>C (p.Ala153=) rs61751150 0.00079
NM_001267550.2(TTN):c.1537-4G>A rs56006378 0.00079
NM_001267550.2(TTN):c.20025C>A (p.Ala6675=) rs373842558 0.00079
NM_001267550.2(TTN):c.45174C>T (p.Gly15058=) rs372609980 0.00079
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile) rs56130023 0.00079
NM_001267550.2(TTN):c.85248A>T (p.Thr28416=) rs187180708 0.00079
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=) rs190406444 0.00079
NM_001379500.1(COL18A1):c.2790C>T (p.Gly930=) rs564134000 0.00079
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys) rs28937880 0.00079
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val) rs149372969 0.00079
NM_152743.4(BRAT1):c.2041G>A (p.Glu681Lys) rs145833100 0.00079
NM_000209.4(PDX1):c.6C>T (p.Asn2=) rs146936598 0.00078
NM_000268.4(NF2):c.1416C>T (p.Leu472=) rs148776784 0.00078
NM_000297.4(PKD2):c.784G>A (p.Val262Met) rs138132026 0.00078
NM_001009944.3(PKD1):c.10531C>G (p.Leu3511Val) rs141946034 0.00078
NM_001032221.6(STXBP1):c.6C>T (p.Ala2=) rs144094037 0.00078
NM_001267550.2(TTN):c.13976A>G (p.Tyr4659Cys) rs34706803 0.00078
NM_001267550.2(TTN):c.54812-5A>G rs375343798 0.00078
NM_001271.4(CHD2):c.960A>T (p.Thr320=) rs149632554 0.00078
NM_001278064.2(GRM1):c.444C>G (p.Pro148=) rs138794480 0.00078
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298 0.00078
NM_001378452.1(ITPR1):c.5466C>T (p.Asn1822=) rs113368815 0.00078
NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=) rs201760315 0.00078
NM_002693.3(POLG):c.2853C>T (p.Tyr951=) rs41546712 0.00078
NM_005097.4(LGI1):c.1A>G (p.Met1Val) rs202204627 0.00078
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val) rs140954748 0.00078
NM_006009.4(TUBA1A):c.226+10C>T rs199717430 0.00078
NM_006397.3(RNASEH2A):c.684C>T (p.Phe228=) rs147131347 0.00078
NM_007327.4(GRIN1):c.570+10G>A rs200924771 0.00078
NM_014846.4(WASHC5):c.732G>A (p.Pro244=) rs146320386 0.00078
NM_014855.3(AP5Z1):c.999C>T (p.Asp333=) rs201196622 0.00078
NM_052874.5(STX1B):c.786+7G>A rs201785193 0.00078
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_201384.3(PLEC):c.10566G>A (p.Thr3522=) rs200741156 0.00078
NM_201384.3(PLEC):c.5471C>T (p.Ala1824Val) rs542642242 0.00078
NM_000117.3(EMD):c.396C>T (p.His132=) rs145985318 0.00077
NM_000122.2(ERCC3):c.618C>T (p.Ala206=) rs145830873 0.00077
NM_000209.4(PDX1):c.165C>A (p.Gly55=) rs530567443 0.00077
NM_001378452.1(ITPR1):c.1449C>T (p.Phe483=) rs192247062 0.00077
NM_001378969.1(KCND3):c.1456A>G (p.Thr486Ala) rs149008060 0.00077
NM_002335.4(LRP5):c.1413-7T>A rs141889567 0.00077
NM_003900.5(SQSTM1):c.1245G>A (p.Arg415=) rs148278350 0.00077
NM_005670.4(EPM2A):c.24G>A (p.Val8=) rs587780938 0.00077
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr) rs140095832 0.00077
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr) rs113962905 0.00077
NM_201384.3(PLEC):c.7121G>A (p.Arg2374Gln) rs201417343 0.00077
NM_000069.3(CACNA1S):c.4114-8T>C rs373675720 0.00076
NM_000156.6(GAMT):c.581T>C (p.Val194Ala) rs147739199 0.00076
NM_000193.4(SHH):c.1078C>T (p.Leu360=) rs191903572 0.00076
NM_000371.4(TTR):c.*3_*11del rs143948820 0.00076
NM_000435.3(NOTCH3):c.2835G>A (p.Ser945=) rs141346023 0.00076
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_001077365.2(POMT1):c.986+9A>G rs202095070 0.00076
NM_001243133.2(NLRP3):c.930C>T (p.Asp310=) rs143840033 0.00076
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His) rs201505306 0.00076
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr) rs184643087 0.00076
NM_001378969.1(KCND3):c.1573A>G (p.Met525Val) rs145890206 0.00076
NM_001458.5(FLNC):c.6175G>A (p.Val2059Met) rs201333104 0.00076
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr) rs63750043 0.00076
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=) rs144807538 0.00076
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00076
NM_003482.4(KMT2D):c.3737C>T (p.Thr1246Met) rs112921115 0.00076
NM_014363.6(SACS):c.1374A>G (p.Thr458=) rs149129638 0.00076
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848 0.00076
NM_015046.7(SETX):c.5949+5G>A rs374656811 0.00076
NM_015046.7(SETX):c.81C>T (p.Ser27=) rs149229231 0.00076
NM_016341.4(PLCE1):c.2786G>C (p.Ser929Thr) rs61732521 0.00076
NM_153026.3(PRICKLE1):c.2071A>G (p.Thr691Ala) rs149496604 0.00076
NM_182961.4(SYNE1):c.10800G>A (p.Leu3600=) rs114858512 0.00076
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly) rs138407813 0.00076
NM_201384.3(PLEC):c.8182A>G (p.Ile2728Val) rs200061415 0.00076
NM_000023.4(SGCA):c.366G>A (p.Leu122=) rs147739328 0.00075
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_000288.4(PEX7):c.339+10A>G rs374668045 0.00075
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00075
NM_001008537.3(NEXMIF):c.3555G>T (p.Gly1185=) rs142714242 0.00075
NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=) rs201509188 0.00075
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=) rs201155967 0.00075
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys) rs191482653 0.00075
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00075
NM_005529.7(HSPG2):c.4568G>A (p.Arg1523His) rs147633715 0.00075
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr) rs143155918 0.00075
NM_014363.6(SACS):c.2146C>T (p.His716Tyr) rs146852400 0.00075
NM_020822.3(KCNT1):c.942C>T (p.Thr314=) rs144766991 0.00075
NM_022089.4(ATP13A2):c.106-8G>A rs200587951 0.00075
NM_024306.5(FA2H):c.338G>A (p.Arg113Gln) rs147632811 0.00075
NM_000426.4(LAMA2):c.8586T>C (p.Tyr2862=) rs142451929 0.00074
NM_000435.3(NOTCH3):c.1607-5C>A rs372869012 0.00074
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=) rs138996307 0.00074
NM_001040142.2(SCN2A):c.3372C>T (p.Ser1124=) rs571408286 0.00074
NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val) rs200650758 0.00074
NM_001127222.2(CACNA1A):c.3355G>A (p.Ala1119Thr) rs199745070 0.00074
NM_001151.4(SLC25A4):c.252C>T (p.Thr84=) rs145413043 0.00074
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=) rs143368674 0.00074
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=) rs2303834 0.00074
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=) rs151335428 0.00074
NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln) rs148468627 0.00074
NM_001927.4(DES):c.785A>T (p.Glu262Val) rs147327878 0.00074
NM_002206.3(ITGA7):c.1606C>T (p.Leu536Phe) rs149028067 0.00074
NM_003119.4(SPG7):c.1324+10C>T rs202070075 0.00074
NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr) rs141609058 0.00074
NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys) rs140281678 0.00074
NM_152393.4(KLHL40):c.447C>T (p.Ala149=) rs138852341 0.00074
NM_153766.3(KCNJ1):c.505C>T (p.Arg169Cys) rs138120505 0.00074
NM_182914.3(SYNE2):c.8403C>T (p.Gly2801=) rs189676726 0.00074
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606 0.00073
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) rs63750197 0.00073
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250 0.00073
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) rs121917956 0.00073
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg) rs200594798 0.00073
NM_001376.5(DYNC1H1):c.5310C>T (p.Gly1770=) rs34013442 0.00073
NM_015559.3(SETBP1):c.4234C>A (p.Arg1412=) rs145996171 0.00073
NM_030665.4(RAI1):c.4526A>G (p.Gln1509Arg) rs140063274 0.00073
NM_033629.6(TREX1):c.720G>C (p.Arg240Ser) rs72556555 0.00073
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu) rs113342704 0.00073
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro) rs151247098 0.00073
NM_198994.3(TGM6):c.245G>C (p.Gly82Ala) rs144094215 0.00073
NM_201384.3(PLEC):c.12190G>A (p.Glu4064Lys) rs200206105 0.00073
NM_000051.4(ATM):c.7928-10T>C rs188404773 0.00072
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_001097577.3(ANG):c.208A>G (p.Ile70Val) rs121909541 0.00072
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534 0.00072
NM_001130987.2(DYSF):c.6174-9C>T rs201070766 0.00072
NM_001244008.2(KIF1A):c.2475C>T (p.Tyr825=) rs199996308 0.00072
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871 0.00072
NM_001378452.1(ITPR1):c.3660G>A (p.Ala1220=) rs199960483 0.00072
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn) rs117209107 0.00072
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) rs146309392 0.00072
NM_006922.4(SCN3A):c.2304T>C (p.Ile768=) rs72870766 0.00072
NM_152393.4(KLHL40):c.648G>T (p.Ala216=) rs200613578 0.00072
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=) rs139436386 0.00072
NM_182961.4(SYNE1):c.8238G>A (p.Glu2746=) rs139838755 0.00072
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) rs147143094 0.00071
NM_001164508.2(NEB):c.3989A>G (p.Tyr1330Cys) rs189553632 0.00071
NM_001242896.3(DEPDC5):c.1330G>A (p.Gly444Arg) rs201394709 0.00071
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=) rs55838839 0.00071
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279 0.00071
NM_002693.3(POLG):c.578G>A (p.Arg193Gln) rs3176162 0.00071
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr) rs149638449 0.00071
NM_018451.5(CPAP):c.3922G>A (p.Val1308Ile) rs140564566 0.00071
NM_021625.5(TRPV4):c.2472G>A (p.Ser824=) rs149988106 0.00071
NM_182961.4(SYNE1):c.7647C>T (p.His2549=) rs113163375 0.00071
NM_000217.3(KCNA1):c.1327C>G (p.Arg443Gly) rs150849316 0.00070
NM_000435.3(NOTCH3):c.4025C>A (p.Ala1342Asp) rs888391580 0.00070
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr) rs146269871 0.00070
NM_000451.4(SHOX):c.634-14G>T rs759067813 0.00070
NM_000834.5(GRIN2B):c.228C>T (p.Thr76=) rs77299791 0.00070
NM_001009944.3(PKD1):c.1533C>T (p.Leu511=) rs570750726 0.00070
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile) rs201836062 0.00070
NM_001164508.2(NEB):c.20128G>A (p.Val6710Ile) rs199890298 0.00070
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr) rs72648263 0.00070
NM_013275.6(ANKRD11):c.2519G>A (p.Arg840Gln) rs149776253 0.00070
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699 0.00070
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp) rs77984885 0.00070
NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr) rs141589525 0.00070
NM_015087.5(SPART):c.363C>T (p.Asp121=) rs149393698 0.00070
NM_020247.5(COQ8A):c.1797C>T (p.Leu599=) rs139551241 0.00070
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00070
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00070
NM_175914.5(HNF4A):c.426+6G>A rs182980547 0.00070
NM_000484.4(APP):c.1305C>T (p.Phe435=) rs148180403 0.00069
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) rs146839867 0.00069
NM_001009944.3(PKD1):c.8200C>A (p.Pro2734Thr) rs150568356 0.00069
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764 0.00069
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=) rs184319249 0.00069
NM_001267550.2(TTN):c.76019T>A (p.Val25340Asp) rs200287703 0.00069
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) rs200173934 0.00069
NM_001330078.2(NRXN1):c.1158+26A>T rs201802152 0.00069
NM_005413.4(SIX3):c.348C>T (p.Pro116=) rs573768953 0.00069
NM_014467.3(SRPX2):c.1293C>T (p.Tyr431=) rs138091242 0.00069
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934 0.00069
NM_182961.4(SYNE1):c.22617C>T (p.Leu7539=) rs111367233 0.00069
NM_198994.3(TGM6):c.1025G>A (p.Arg342Gln) rs201645096 0.00069
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn) rs140562402 0.00068
NM_001040142.2(SCN2A):c.5446G>T (p.Ala1816Ser) rs147084515 0.00068
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086 0.00068
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288 0.00068
NM_001164508.2(NEB):c.3184A>G (p.Lys1062Glu) rs192117840 0.00068
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=) rs201285872 0.00068
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His) rs72648206 0.00068
NM_001365999.1(SZT2):c.6977G>A (p.Arg2326Gln) rs146140125 0.00068
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr) rs201144431 0.00068
NM_002739.5(PRKCG):c.1524C>A (p.Pro508=) rs115736276 0.00068
NM_003900.5(SQSTM1):c.1176G>A (p.Pro392=) rs75700262 0.00068
NM_004172.5(SLC1A3):c.1074C>T (p.Thr358=) rs147973032 0.00068
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=) rs78388808 0.00068
NM_014208.3(DSPP):c.180G>T (p.Leu60=) rs200927888 0.00068
NM_018075.5(ANO10):c.1914+3G>A rs113187031 0.00068
NM_030665.4(RAI1):c.4039A>G (p.Lys1347Glu) rs34521483 0.00068
NM_182961.4(SYNE1):c.12255G>A (p.Gln4085=) rs145401144 0.00068
NM_182961.4(SYNE1):c.24985A>G (p.Ser8329Gly) rs142690727 0.00068
NM_182961.4(SYNE1):c.8015T>C (p.Leu2672Pro) rs147870520 0.00068
NM_198994.3(TGM6):c.1301G>A (p.Arg434His) rs150243412 0.00068
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys) rs202151409 0.00067
NM_000478.6(ALPL):c.612C>T (p.Ile204=) rs141448778 0.00067
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val) rs45517171 0.00067
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn) rs141274774 0.00067
NM_001159699.2(FHL1):c.114G>A (p.Lys38=) rs140149764 0.00067
NM_002180.3(IGHMBP2):c.548-10T>G rs139207271 0.00067
NM_015046.7(SETX):c.717A>G (p.Leu239=) rs147125311 0.00067
NM_016373.4(WWOX):c.807C>T (p.Asn269=) rs62034095 0.00067
NM_021942.6(TRAPPC11):c.282A>C (p.Pro94=) rs148105529 0.00067
NM_024301.5(FKRP):c.636G>A (p.Ala212=) rs370099812 0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_144672.4(OTOA):c.236G>A (p.Arg79Gln) rs147088274 0.00067
NM_182961.4(SYNE1):c.15907C>T (p.Arg5303Trp) rs149215868 0.00067
NM_182961.4(SYNE1):c.4610G>A (p.Arg1537Gln) rs369775705 0.00067
NM_198994.3(TGM6):c.751T>C (p.Trp251Arg) rs375649994 0.00067
NM_000088.4(COL1A1):c.3099+7T>C rs201682029 0.00066
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334 0.00066
NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=) rs56142348 0.00066
NM_001040142.2(SCN2A):c.897A>G (p.Ser299=) rs143765389 0.00066
NM_001164508.2(NEB):c.8978A>G (p.Lys2993Arg) rs138217855 0.00066
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202 0.00066
NM_001267550.2(TTN):c.75192T>C (p.Thr25064=) rs370480927 0.00066
NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu) rs201340369 0.00066
NM_001379500.1(COL18A1):c.1882G>A (p.Ala628Thr) rs181012655 0.00066
NM_002087.4(GRN):c.708+8A>T rs370878457 0.00066
NM_004006.3(DMD):c.4233+2C>T rs147474070 0.00066
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881 0.00066
NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr) rs149605021 0.00066
NM_017837.4(PIGV):c.1369C>T (p.Leu457Phe) rs143676075 0.00066
NM_021098.3(CACNA1H):c.4584C>T (p.Asn1528=) rs200542719 0.00066
NM_025137.4(SPG11):c.4026A>G (p.Gln1342=) rs139887370 0.00066
NM_032119.4(ADGRV1):c.15177G>T (p.Gln5059His) rs201416399 0.00066
NM_052874.5(STX1B):c.837G>A (p.Ala279=) rs150313069 0.00066
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe) rs145208175 0.00066
NM_173500.4(TTBK2):c.1929T>C (p.Ala643=) rs376543555 0.00066
NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=) rs201799566 0.00066
NM_000426.4(LAMA2):c.1400A>G (p.Lys467Arg) rs138162760 0.00065
NM_001009944.3(PKD1):c.182C>T (p.Pro61Leu) rs886038369 0.00065
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=) rs372260338 0.00065
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027 0.00065
NM_001278064.2(GRM1):c.2922T>C (p.Pro974=) rs142409803 0.00065
NM_001330078.2(NRXN1):c.3201C>T (p.Ser1067=) rs75275592 0.00065
NM_004006.3(DMD):c.2199C>T (p.Ser733=) rs149882431 0.00065
NM_014855.3(AP5Z1):c.1964C>T (p.Ser655Leu) rs61750324 0.00065
NM_021098.3(CACNA1H):c.918C>T (p.Pro306=) rs57468015 0.00065
NM_000026.4(ADSL):c.403-4G>A rs373652667 0.00064
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946 0.00064
NM_000338.3(SLC12A1):c.3096+7A>T rs200662267 0.00064
NM_000435.3(NOTCH3):c.338G>A (p.Arg113Gln) rs143385744 0.00064
NM_001166114.2(PNPLA6):c.3495C>T (p.Ser1165=) rs138837774 0.00064
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr) rs188878341 0.00064
NM_004006.3(DMD):c.3326A>T (p.Asn1109Ile) rs200596739 0.00064
NM_004977.3(KCNC3):c.1875G>T (p.Arg625Ser) rs537912602 0.00064
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg) rs143326964 0.00064
NM_005445.4(SMC3):c.3495T>A (p.Ala1165=) rs142395521 0.00064
NM_006922.4(SCN3A):c.44G>A (p.Arg15His) rs139769668 0.00064
NM_007126.5(VCP):c.1584C>T (p.Ala528=) rs147623367 0.00064
NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn) rs144947610 0.00064
NM_018941.4(CLN8):c.546G>A (p.Ala182=) rs144047076 0.00064
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly) rs143990563 0.00064
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081 0.00064
NM_182914.3(SYNE2):c.3506G>A (p.Arg1169His) rs200437377 0.00064
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln) rs117647282 0.00064
NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln) rs370569372 0.00064
NM_000070.3(CAPN3):c.525C>T (p.Asp175=) rs144383442 0.00063
NM_000217.3(KCNA1):c.611G>A (p.Arg204His) rs2229000 0.00063
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp) rs148046938 0.00063
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903 0.00063
NM_000834.5(GRIN2B):c.3747C>T (p.Gly1249=) rs138771137 0.00063
NM_001009944.3(PKD1):c.12139-5C>T rs146430229 0.00063
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=) rs374780430 0.00063
NM_001195248.2(APTX):c.513G>A (p.Leu171=) rs140888559 0.00063
NM_001242896.3(DEPDC5):c.3567A>G (p.Thr1189=) rs142197878 0.00063
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) rs201412693 0.00063
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=) rs72646848 0.00063
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn) rs200450022 0.00063
NM_001378030.1(CCDC78):c.23G>A (p.Gly8Asp) rs181469519 0.00063
NM_001378452.1(ITPR1):c.6912G>A (p.Pro2304=) rs200426774 0.00063
NM_001379200.1(TBX1):c.840C>T (p.Thr280=) rs61730282 0.00063
NM_001379500.1(COL18A1):c.107-12197G>A rs200284308 0.00063
NM_001482.3(GATM):c.407C>T (p.Thr136Met) rs148564534 0.00063
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_003900.5(SQSTM1):c.924G>A (p.Ala308=) rs139482113 0.00063
NM_004172.5(SLC1A3):c.15T>C (p.Asn5=) rs143791614 0.00063
NM_004172.5(SLC1A3):c.320-7C>T rs200867287 0.00063
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=) rs146879902 0.00063
NM_006946.4(SPTBN2):c.3116G>A (p.Arg1039Gln) rs148826890 0.00063
NM_015295.3(SMCHD1):c.306G>A (p.Ser102=) rs7229488 0.00063
NM_016239.4(MYO15A):c.3979C>T (p.Leu1327=) rs146245515 0.00063
NM_016373.4(WWOX):c.468G>T (p.Arg156Ser) rs140817689 0.00063
NM_018100.4(EFHC1):c.64-5T>C rs201860746 0.00063
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037 0.00063
NM_152743.4(BRAT1):c.1507C>T (p.Pro503Ser) rs147745609 0.00063
NM_181882.3(PRX):c.2548C>G (p.Pro850Ala) rs141686828 0.00063
NM_182961.4(SYNE1):c.14769A>G (p.Glu4923=) rs141057568 0.00063
NM_000478.6(ALPL):c.858A>G (p.Leu286=) rs375027534 0.00062
NM_000540.3(RYR1):c.6387C>T (p.Asp2129=) rs117886618 0.00062
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) rs148546224 0.00062
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala) rs200118743 0.00062
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=) rs190830121 0.00062
NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr) rs373099440 0.00062
NM_004006.3(DMD):c.10262+1G>A rs145603325 0.00062
NM_004006.3(DMD):c.1028G>A (p.Arg343His) rs61733589 0.00062
NM_004960.4(FUS):c.404G>A (p.Ser135Asn) rs61732970 0.00062
NM_005529.7(HSPG2):c.732A>G (p.Thr244=) rs139842104 0.00062
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile) rs142299878 0.00062
NM_014053.4(FLVCR1):c.1657T>G (p.Ser553Ala) rs149887215 0.00062
NM_014363.6(SACS):c.2234G>A (p.Arg745His) rs143677534 0.00062
NM_014946.4(SPAST):c.134C>A (p.Pro45Gln) rs121908517 0.00062
NM_018136.5(ASPM):c.6717G>C (p.Leu2239=) rs147100928 0.00062
NM_024411.5(PDYN):c.106G>T (p.Gly36Cys) rs149056587 0.00062
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) rs138452760 0.00062
NM_201384.3(PLEC):c.6021G>A (p.Ala2007=) rs200338935 0.00062
NM_213599.3(ANO5):c.294G>A (p.Ala98=) rs142858990 0.00062
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073 0.00061
NM_000088.4(COL1A1):c.1461+13G>T rs371161009 0.00061
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) rs142704083 0.00061
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys) rs144425830 0.00061
NM_000548.5(TSC2):c.2032G>A (p.Ala678Thr) rs200494044 0.00061
NM_001009944.3(PKD1):c.2655C>T (p.Cys885=) rs142606648 0.00061
NM_001166114.2(PNPLA6):c.1935C>G (p.Arg645=) rs138023728 0.00061
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys) rs139833874 0.00061
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241 0.00061
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_001267550.2(TTN):c.75738A>G (p.Glu25246=) rs371344165 0.00061
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala) rs200771189 0.00061
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile) rs149346064 0.00061
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782 0.00061
NM_001384140.1(PCDH15):c.4334C>G (p.Ala1445Gly) rs146745502 0.00061
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu) rs117583120 0.00061
NM_002578.5(PAK3):c.483A>G (p.Ala161=) rs146801179 0.00061
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr) rs140769107 0.00061
NM_005591.4(MRE11):c.120C>T (p.Leu40=) rs1805364 0.00061
NM_006623.4(PHGDH):c.624T>C (p.Pro208=) rs77401816 0.00061
NM_013275.6(ANKRD11):c.6140C>G (p.Ala2047Gly) rs199691161 0.00061
NM_014363.6(SACS):c.12813T>G (p.Pro4271=) rs146376949 0.00061
NM_017739.4(POMGNT1):c.453G>A (p.Thr151=) rs146121135 0.00061
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) rs202219507 0.00061
NM_024589.3(ROGDI):c.567G>A (p.Leu189=) rs143000899 0.00061
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe) rs200816323 0.00061
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn) rs117320408 0.00061
NM_182961.4(SYNE1):c.21414C>T (p.Ala7138=) rs144904215 0.00061
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917 0.00061
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser) rs189557655 0.00060
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636 0.00060
NM_001009944.3(PKD1):c.10080C>T (p.Ala3360=) rs149924232 0.00060
NM_001111125.3(IQSEC2):c.2508G>A (p.Ala836=) rs2274308 0.00060
NM_001127222.2(CACNA1A):c.4644G>A (p.Pro1548=) rs199854716 0.00060
NM_001191061.2(SLC25A22):c.140C>T (p.Thr47Met) rs142220309 0.00060
NM_001267550.2(TTN):c.55659G>A (p.Val18553=) rs368450420 0.00060
NM_001292063.2(OTOG):c.4641G>T (p.Glu1547Asp) rs764159927 0.00060
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His) rs149644947 0.00060
NM_012301.4(MAGI2):c.3706+5G>A rs188293910 0.00060
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu) rs147013767 0.00060
NM_018319.4(TDP1):c.1800G>A (p.Thr600=) rs75808917 0.00060
NM_024301.5(FKRP):c.969C>T (p.Arg323=) rs532054402 0.00060
NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp) rs144056525 0.00060
NM_182961.4(SYNE1):c.5282A>G (p.Gln1761Arg) rs146244669 0.00060
NM_182961.4(SYNE1):c.5421+9G>T rs376218204 0.00060
NM_201384.3(PLEC):c.3588C>T (p.Asp1196=) rs377059744 0.00060
NM_000069.3(CACNA1S):c.1948+10C>G rs201173419 0.00059
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr) rs185941768 0.00059
NM_000445.5(PLEC):c.133G>A (p.Gly45Ser) rs201820569 0.00059
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641 0.00059
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517 0.00059
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp) rs146970014 0.00059
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) rs199506676 0.00059
NM_001267550.2(TTN):c.69231T>C (p.Leu23077=) rs12615797 0.00059
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His) rs200317412 0.00059
NM_001267550.2(TTN):c.78147A>G (p.Gln26049=) rs149127072 0.00059
NM_001267550.2(TTN):c.82797C>T (p.Gly27599=) rs72648216 0.00059
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222 0.00059
NM_004646.4(NPHS1):c.1747G>A (p.Glu583Lys) rs147641617 0.00059
NM_007327.4(GRIN1):c.768G>C (p.Gly256=) rs141473515 0.00059
NM_014874.4(MFN2):c.1495+9C>T rs375494746 0.00059
NM_015915.5(ATL1):c.669C>T (p.Tyr223=) rs146975855 0.00059
NM_000338.3(SLC12A1):c.708C>T (p.Asn236=) rs141106709 0.00058
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00058
NM_000540.3(RYR1):c.8616+7G>A rs200023171 0.00058
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp) rs138682847 0.00058
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile) rs140162759 0.00058
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile) rs72558029 0.00058
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658 0.00058
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431 0.00058
NM_001244008.2(KIF1A):c.4749C>T (p.Ser1583=) rs371737085 0.00058
NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser) rs183844833 0.00058
NM_001292063.2(OTOG):c.8646G>A (p.Leu2882=) rs542151771 0.00058
NM_002739.5(PRKCG):c.1836C>T (p.Gly612=) rs56211557 0.00058
NM_006950.3(SYN1):c.1615G>A (p.Gly539Ser) rs794727076 0.00058
NM_013382.7(POMT2):c.1701C>G (p.Pro567=) rs151051452 0.00058
NM_014365.3(HSPB8):c.233G>T (p.Arg78Met) rs55826713 0.00058
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677 0.00058
NM_021625.5(TRPV4):c.549G>A (p.Glu183=) rs141908793 0.00058
NM_145207.3(AFG2A):c.1964G>A (p.Arg655Gln) rs147873489 0.00058
NM_175914.5(HNF4A):c.427-20C>T rs184217112 0.00058
NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val) rs143093185 0.00058
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala) rs117461489 0.00058
NM_000161.3(GCH1):c.*12T>C rs190993883 0.00057
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu) rs45482691 0.00057
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys) rs376283361 0.00057
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=) rs374749004 0.00057
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala) rs199793367 0.00057
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His) rs2303603 0.00057
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) rs147056383 0.00057
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr) rs35698242 0.00057
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met) rs192001910 0.00057
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala) rs55945684 0.00057
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_002087.3(GRN):c.-45C>G rs563336550 0.00057
NM_002693.3(POLG):c.1712+10G>A rs55962804 0.00057
NM_004568.6(SERPINB6):c.121G>A (p.Val41Ile) rs140220538 0.00057
NM_005529.7(HSPG2):c.3708G>A (p.Ala1236=) rs202214491 0.00057
NM_013275.6(ANKRD11):c.2240C>T (p.Ser747Leu) rs138898373 0.00057
NM_014363.6(SACS):c.4985C>T (p.Thr1662Met) rs139387396 0.00057
NM_024301.5(FKRP):c.531G>A (p.Glu177=) rs768007208 0.00057
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00057
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys) rs116164106 0.00057
NM_206933.4(USH2A):c.3531T>C (p.Gly1177=) rs149570469 0.00057
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys) rs200761715 0.00056
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg) rs199676994 0.00056
NM_001244008.2(KIF1A):c.618G>A (p.Ala206=) rs137913879 0.00056
NM_001267550.2(TTN):c.40634-9A>G rs373511249 0.00056
NM_001267550.2(TTN):c.71841G>C (p.Lys23947Asn) rs56019808 0.00056
NM_001267550.2(TTN):c.77205G>A (p.Val25735=) rs55857909 0.00056
NM_001379180.1(ESRRB):c.*1535G>A rs200237229 0.00056
NM_002693.3(POLG):c.1275C>T (p.Ala425=) rs147404477 0.00056
NM_002693.3(POLG):c.798G>T (p.Val266=) rs143631183 0.00056
NM_002739.5(PRKCG):c.638G>A (p.Arg213Gln) rs115832790 0.00056
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_004172.5(SLC1A3):c.1154G>A (p.Arg385His) rs115702388 0.00056
NM_005045.4(RELN):c.3147-4A>G rs375230548 0.00056
NM_005529.7(HSPG2):c.12786C>T (p.Leu4262=) rs141936971 0.00056
NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr) rs143109401 0.00056
NM_006946.4(SPTBN2):c.3722A>G (p.Glu1241Gly) rs141683210 0.00056
NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu) rs147766428 0.00056
NM_020919.4(ALS2):c.4416G>A (p.Thr1472=) rs200202953 0.00056
NM_021098.3(CACNA1H):c.1371C>T (p.Tyr457=) rs368758031 0.00056
NM_024577.4(SH3TC2):c.1482C>T (p.Leu494=) rs200665714 0.00056
NM_175914.5(HNF4A):c.1032T>A (p.Ile344=) rs145880201 0.00056
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=) rs144105769 0.00056
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=) rs150905950 0.00056
NM_182961.4(SYNE1):c.22458T>G (p.Asn7486Lys) rs139466191 0.00056
NM_182961.4(SYNE1):c.3669+10T>C rs187598275 0.00056
NM_201378.4(PLEC):c.71-11923G>A rs200842821 0.00056
NM_000069.3(CACNA1S):c.369T>C (p.Asn123=) rs148680317 0.00055
NM_000142.5(FGFR3):c.1959+8C>T rs371666188 0.00055
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys) rs142348542 0.00055
NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg) rs377121179 0.00055
NM_013275.6(ANKRD11):c.5629C>T (p.Pro1877Ser) rs142527333 0.00055
NM_015559.3(SETBP1):c.3808G>A (p.Gly1270Ser) rs142834327 0.00055
NM_018109.4(MTPAP):c.1278T>C (p.Ser426=) rs147355590 0.00055
NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu) rs200706696 0.00055
NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp) rs2229790 0.00055
NM_182914.3(SYNE2):c.10392C>T (p.Cys3464=) rs373646325 0.00055
NM_201384.3(PLEC):c.11594G>A (p.Arg3865His) rs200722246 0.00055
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) rs138828590 0.00054
NM_000231.3(SGCG):c.58A>G (p.Asn20Asp) rs763248287 0.00054
NM_000451.4(SHOX):c.400C>A (p.Arg134=) rs193922467 0.00054
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met) rs139779505 0.00054
NM_000748.3(CHRNB2):c.77C>T (p.Thr26Met) rs71651692 0.00054
NM_000815.5(GABRD):c.1060-7C>T rs368961588 0.00054
NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=) rs200258756 0.00054
NM_001195248.2(APTX):c.770+10G>T rs111392103 0.00054
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val) rs148140756 0.00054
NM_001267550.2(TTN):c.44548+9A>G rs372725070 0.00054
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00054
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855 0.00054
NM_001267550.2(TTN):c.63876C>T (p.Asn21292=) rs199598302 0.00054
NM_001365999.1(SZT2):c.3469C>T (p.Pro1157Ser) rs150966402 0.00054
NM_001378452.1(ITPR1):c.5277G>A (p.Ser1759=) rs368425885 0.00054
NM_005529.7(HSPG2):c.2549G>A (p.Arg850His) rs140392638 0.00054
NM_014363.6(SACS):c.7165G>A (p.Val2389Met) rs142869943 0.00054
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_015559.3(SETBP1):c.3790T>G (p.Ser1264Ala) rs141108624 0.00054
NM_020247.5(COQ8A):c.67G>A (p.Val23Met) rs35582308 0.00054
NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu) rs199700538 0.00054
NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=) rs376298949 0.00054
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile) rs139170018 0.00054
NM_182961.4(SYNE1):c.1730-7G>A rs367603152 0.00054
NM_182961.4(SYNE1):c.5807A>G (p.His1936Arg) rs112744561 0.00054
NM_201384.3(PLEC):c.6426C>T (p.Ala2142=) rs200062782 0.00054
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg) rs148870919 0.00053
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00053
NM_000334.4(SCN4A):c.1520A>G (p.Asn507Ser) rs201793080 0.00053
NM_000334.4(SCN4A):c.999C>T (p.Asn333=) rs149726115 0.00053
NM_001267550.2(TTN):c.102657T>A (p.Ser34219Arg) rs370077023 0.00053
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr) rs78814506 0.00053
NM_001304438.2(TMEM132E):c.257A>C (p.Glu86Ala) rs147874855 0.00053
NM_001458.5(FLNC):c.2125G>A (p.Ala709Thr) rs192725607 0.00053
NM_001614.5(ACTG1):c.774G>A (p.Pro258=) rs61997068 0.00053
NM_001961.4(EEF2):c.2496C>T (p.Ser832=) rs147759681 0.00053
NM_006946.4(SPTBN2):c.3885C>T (p.Asp1295=) rs146526805 0.00053
NM_006946.4(SPTBN2):c.590A>G (p.Asn197Ser) rs148154681 0.00053
NM_013275.6(ANKRD11):c.7623G>A (p.Ala2541=) rs190789698 0.00053
NM_020988.3(GNAO1):c.414A>G (p.Gln138=) rs141057479 0.00053
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=) rs138986228 0.00053
NM_144991.3(TSPEAR):c.668C>T (p.Ser223Leu) rs149481227 0.00053
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_182914.3(SYNE2):c.14528T>A (p.Phe4843Tyr) rs141488398 0.00053
NM_182961.4(SYNE1):c.2395G>A (p.Val799Ile) rs199670962 0.00053
NM_201525.4(ADGRG1):c.612C>T (p.Pro204=) rs147495708 0.00053
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=) rs144218745 0.00052
NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala) rs201414940 0.00052
NM_001174089.2(SLC4A11):c.893C>T (p.Ala298Val) rs141705330 0.00052
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) rs376810671 0.00052
NM_001961.4(EEF2):c.1746G>A (p.Thr582=) rs148878859 0.00052
NM_002087.4(GRN):c.253C>G (p.Pro85Ala) rs143560849 0.00052
NM_002087.4(GRN):c.393C>G (p.Phe131Leu) rs149180605 0.00052
NM_002693.3(POLG):c.678G>C (p.Gln226His) rs147282197 0.00052
NM_005045.4(RELN):c.5961G>T (p.Lys1987Asn) rs143948239 0.00052
NM_006420.3(ARFGEF2):c.3275G>A (p.Arg1092His) rs151045115 0.00052
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00052
NM_016729.3(FOLR1):c.321C>T (p.Tyr107=) rs145674759 0.00052
NM_022464.5(SIL1):c.573G>A (p.Lys191=) rs148927511 0.00052
NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala) rs201890097 0.00052
NM_182914.3(SYNE2):c.4912T>C (p.Tyr1638His) rs146801942 0.00052
NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys) rs140005424 0.00052
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=) rs139070088 0.00052
NM_201384.3(PLEC):c.8040C>T (p.Asp2680=) rs373341589 0.00052
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_000110.4(DPYD):c.451A>G (p.Asn151Asp) rs200562975 0.00051
NM_000454.5(SOD1):c.357+9T>C rs17886692 0.00051
NM_000497.4(CYP11B1):c.50C>T (p.Ser17Phe) rs142591816 0.00051
NM_000548.5(TSC2):c.1593C>T (p.Ile531=) rs45517180 0.00051
NM_000744.7(CHRNA4):c.225C>T (p.Asp75=) rs113080067 0.00051
NM_001083962.2(TCF4):c.1577C>T (p.Thr526Met) rs202025804 0.00051
NM_001267550.2(TTN):c.21404-4A>G rs72648965 0.00051
NM_001267550.2(TTN):c.23378-10C>A rs72648975 0.00051
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His) rs201388509 0.00051
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00051
NM_001961.4(EEF2):c.2250+10A>G rs368428296 0.00051
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) rs146906267 0.00051
NM_004187.5(KDM5C):c.4637G>A (p.Arg1546Gln) rs139569882 0.00051
NM_004320.6(ATP2A1):c.1560C>T (p.Gly520=) rs138565447 0.00051
NM_004646.4(NPHS1):c.1619C>A (p.Ala540Glu) rs149598144 0.00051
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_005529.7(HSPG2):c.1557G>A (p.Leu519=) rs149710901 0.00051
NM_005633.4(SOS1):c.2760G>A (p.Arg920=) rs149092581 0.00051
NM_015046.7(SETX):c.7914C>T (p.Phe2638=) rs80296256 0.00051
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val) rs56217500 0.00051
NM_080680.3(COL11A2):c.517C>T (p.Arg173Trp) rs146522169 0.00051
NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile) rs149600313 0.00051
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=) rs147508177 0.00051
NM_201384.3(PLEC):c.10302C>A (p.Thr3434=) rs199879193 0.00051
NM_201384.3(PLEC):c.540C>T (p.Cys180=) rs189256993 0.00051
NM_203290.4(POLR1C):c.421C>T (p.Arg141Cys) rs148385032 0.00051
NM_000142.5(FGFR3):c.1023G>A (p.Ala341=) rs147833498 0.00050
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=) rs200610057 0.00050
NM_000478.6(ALPL):c.744C>T (p.Asp248=) rs188689330 0.00050
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242 0.00050
NM_000744.7(CHRNA4):c.876C>T (p.Ile292=) rs139694653 0.00050
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493 0.00050
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=) rs200825430 0.00050
NM_001378452.1(ITPR1):c.3945T>C (p.Asn1315=) rs193212750 0.00050
NM_001458.5(FLNC):c.5764G>A (p.Ala1922Thr) rs202128602 0.00050
NM_001540.5(HSPB1):c.240A>G (p.Gln80=) rs377246178 0.00050
NM_004320.6(ATP2A1):c.2536G>A (p.Ala846Thr) rs186012808 0.00050
NM_007126.5(VCP):c.*4G>T rs201091341 0.00050
NM_015046.7(SETX):c.3336T>C (p.Ala1112=) rs150687078 0.00050
NM_016156.6(MTMR2):c.1336G>A (p.Glu446Lys) rs146572467 0.00050
NM_182914.3(SYNE2):c.18723+8C>T rs200853043 0.00050
NM_000033.4(ABCD1):c.601G>A (p.Val201Met) rs139415350 0.00049
NM_000260.4(MYO7A):c.5559C>T (p.His1853=) rs373612656 0.00049
NM_000335.5(SCN5A):c.1479G>A (p.Arg493=) rs138870926 0.00049
NM_000352.6(ABCC8):c.3867+7G>A rs372198547 0.00049
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00049
NM_001083962.2(TCF4):c.1923G>A (p.Glu641=) rs76956936 0.00049
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410 0.00049
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580 0.00049
NM_001347721.2(DYRK1A):c.492T>C (p.Val164=) rs148892536 0.00049
NM_001367561.1(DOCK7):c.281G>A (p.Arg94Gln) rs570514826 0.00049
NM_018075.5(ANO10):c.566G>A (p.Arg189Gln) rs148873732 0.00049
NM_021098.3(CACNA1H):c.1853C>T (p.Pro618Leu) rs60734921 0.00049
NM_024577.4(SH3TC2):c.3550A>G (p.Met1184Val) rs142451273 0.00049
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly) rs142985368 0.00049
NM_201384.3(PLEC):c.5673C>T (p.Ile1891=) rs191863619 0.00049
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_001009944.3(PKD1):c.4563T>C (p.Gly1521=) rs143843155 0.00048
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876 0.00048
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His) rs201512527 0.00048
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) rs180975448 0.00048
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657 0.00048
NM_001378030.1(CCDC78):c.490G>A (p.Gly164Ser) rs200747487 0.00048
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile) rs188558398 0.00048
NM_001378452.1(ITPR1):c.66G>A (p.Ser22=) rs112944532 0.00048
NM_004004.6(GJB2):c.-22-6T>C rs141962118 0.00048
NM_004393.6(DAG1):c.1022C>T (p.Thr341Ile) rs148759919 0.00048
NM_005529.7(HSPG2):c.7337C>T (p.Ser2446Leu) rs146950983 0.00048
NM_012210.4(TRIM32):c.*1G>A rs142781513 0.00048
NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn) rs144900653 0.00048
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523 0.00048
NM_025137.4(SPG11):c.7152-14_7152-10dup rs566399432 0.00048
NM_145239.3(PRRT2):c.645C>T (p.Pro215=) rs183683129 0.00048
NM_170707.4(LMNA):c.1911C>T (p.Phe637=) rs117939448 0.00048
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val) rs150637898 0.00048
NM_182961.4(SYNE1):c.17542-7G>A rs199762799 0.00048
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692 0.00047
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) rs144245125 0.00047
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717 0.00047
NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala) rs201735487 0.00047
NM_001267550.2(TTN):c.30181A>C (p.Lys10061Gln) rs184153985 0.00047
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_014363.6(SACS):c.10443C>G (p.Leu3481=) rs144087359 0.00047
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483 0.00047
NM_024426.6(WT1):c.1131T>C (p.Pro377=) rs151034312 0.00047
NM_024577.4(SH3TC2):c.2990G>A (p.Arg997Gln) rs140307699 0.00047
NM_033337.3(CAV3):c.276C>T (p.Phe92=) rs72546669 0.00047
NM_033629.6(TREX1):c.679G>A (p.Gly227Ser) rs113107733 0.00047
NM_133433.4(NIPBL):c.8337G>A (p.Thr2779=) rs139108785 0.00047
NM_138691.3(TMC1):c.696C>T (p.Ala232=) rs112843964 0.00047
NM_181882.3(PRX):c.1651G>A (p.Val551Met) rs61733448 0.00047
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=) rs149142237 0.00046
NM_000814.6(GABRB3):c.1293G>A (p.Arg431=) rs75914945 0.00046
NM_001009944.3(PKD1):c.1326C>T (p.Ala442=) rs376607683 0.00046
NM_001009944.3(PKD1):c.74G>T (p.Gly25Val) rs972049140 0.00046
NM_001110792.2(MECP2):c.855G>T (p.Gly285=) rs61750245 0.00046
NM_001130438.3(SPTAN1):c.6159C>T (p.His2053=) rs150902677 0.00046
NM_001146262.4(SYT14):c.1068A>G (p.Glu356=) rs376509952 0.00046
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys) rs186624523 0.00046
NM_001267550.2(TTN):c.31763-1G>A rs202234172 0.00046
NM_001267550.2(TTN):c.47955A>G (p.Pro15985=) rs192953152 0.00046
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=) rs139789997 0.00046
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala) rs140842479 0.00046
NM_002296.4(LBR):c.1528G>A (p.Ala510Thr) rs78828796 0.00046
NM_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg) rs140758033 0.00046
NM_004562.3(PRKN):c.766C>T (p.Arg256Cys) rs150562946 0.00046
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro) rs139838884 0.00046
NM_013275.6(ANKRD11):c.306G>C (p.Leu102=) rs150497848 0.00046
NM_014855.3(AP5Z1):c.780C>A (p.Thr260=) rs377507553 0.00046
NM_020247.5(COQ8A):c.730G>C (p.Gly244Arg) rs199619932 0.00046
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys) rs200955930 0.00046
NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly) rs200197273 0.00046
NM_182961.4(SYNE1):c.14091G>T (p.Met4697Ile) rs141141950 0.00046
NM_198994.3(TGM6):c.1452C>T (p.Asp484=) rs142748417 0.00046
NM_201384.3(PLEC):c.5227G>A (p.Ala1743Thr) rs781946435 0.00046
NM_201384.3(PLEC):c.6778G>A (p.Asp2260Asn) rs371763907 0.00046
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00046
NM_000069.3(CACNA1S):c.1301T>C (p.Phe434Ser) rs146136274 0.00045
NM_000162.5(GCK):c.*11C>T rs200698755 0.00045
NM_001127222.2(CACNA1A):c.2823G>A (p.Glu941=) rs374511141 0.00045
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=) rs142769942 0.00045
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=) rs200149062 0.00045
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=) rs72648918 0.00045
NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile) rs149059189 0.00045
NM_001267550.2(TTN):c.71369G>A (p.Arg23790His) rs55677134 0.00045
NM_001267550.2(TTN):c.80722A>C (p.Arg26908=) rs573877174 0.00045
NM_003334.4(UBA1):c.1137C>T (p.Asp379=) rs143935711 0.00045
NM_004006.3(DMD):c.2457A>C (p.Leu819=) rs72468680 0.00045
NM_012233.3(RAB3GAP1):c.411C>T (p.Asp137=) rs140929274 0.00045
NM_015346.4(ZFYVE26):c.5260G>A (p.Ala1754Thr) rs146968463 0.00045
NM_025137.4(SPG11):c.1605C>T (p.Ala535=) rs117683234 0.00045
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln) rs201747452 0.00045
NM_175914.5(HNF4A):c.999C>T (p.Ile333=) rs150247632 0.00045
NM_000051.4(ATM):c.3342G>A (p.Lys1114=) rs138393322 0.00044
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793 0.00044
NM_000231.3(SGCG):c.832G>A (p.Gly278Ser) rs147820869 0.00044
NM_000297.4(PKD2):c.1617G>C (p.Leu539=) rs145297759 0.00044
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=) rs199827271 0.00044
NM_000435.3(NOTCH3):c.945C>T (p.Ile315=) rs116239440 0.00044
NM_001009944.3(PKD1):c.9718G>A (p.Ala3240Thr) rs143312683 0.00044
NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=) rs367732133 0.00044
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys) rs192152102 0.00044
NM_001267550.2(TTN):c.99345T>G (p.Gly33115=) rs56398525 0.00044
NM_005477.3(HCN4):c.2800C>T (p.Arg934Cys) rs199638465 0.00044
NM_005529.7(HSPG2):c.13033G>A (p.Gly4345Arg) rs148788926 0.00044
NM_024334.3(TMEM43):c.279C>T (p.Gly93=) rs149883381 0.00044
NM_025219.3(DNAJC5):c.282C>T (p.Asn94=) rs113207069 0.00044
NM_030962.4(SBF2):c.5037C>T (p.Arg1679=) rs200784979 0.00044
NM_182961.4(SYNE1):c.1838C>T (p.Ser613Phe) rs140135976 0.00044
NM_182961.4(SYNE1):c.21002A>G (p.Lys7001Arg) rs145075161 0.00044
NM_182961.4(SYNE1):c.976T>C (p.Trp326Arg) rs146668256 0.00044
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00043
NM_000435.3(NOTCH3):c.4639C>G (p.Leu1547Val) rs150037063 0.00043
NM_000484.4(APP):c.592T>C (p.Ser198Pro) rs145081708 0.00043
NM_001267550.2(TTN):c.13969A>C (p.Asn4657His) rs200204761 0.00043
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=) rs72648971 0.00043
NM_004519.4(KCNQ3):c.2349G>A (p.Thr783=) rs145063831 0.00043
NM_005529.7(HSPG2):c.10187C>T (p.Ala3396Val) rs200225298 0.00043
NM_005619.5(RTN2):c.1312C>T (p.Arg438Cys) rs148270789 0.00043
NM_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val) rs139509075 0.00043
NM_013382.7(POMT2):c.1404A>G (p.Lys468=) rs150491326 0.00043
NM_173500.4(TTBK2):c.144A>C (p.Ala48=) rs183146681 0.00043
NM_175914.5(HNF4A):c.138G>A (p.Thr46=) rs145845882 0.00043
NM_201384.3(PLEC):c.12615C>T (p.Ile4205=) rs202116866 0.00043
NM_000088.4(COL1A1):c.3123C>T (p.Pro1041=) rs145608939 0.00042
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu) rs148028364 0.00042
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670 0.00042
NM_000400.4(ERCC2):c.1866C>T (p.Gly622=) rs16979773 0.00042
NM_000435.3(NOTCH3):c.5992C>T (p.Arg1998Cys) rs201105335 0.00042
NM_000726.5(CACNB4):c.64-238T>G rs369342902 0.00042
NM_000891.3(KCNJ2):c.1200G>A (p.Thr400=) rs201253055 0.00042
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys) rs144076460 0.00042
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr) rs201394117 0.00042
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108 0.00042
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met) rs149300055 0.00042
NM_001540.5(HSPB1):c.438C>T (p.Pro146=) rs7805625 0.00042
NM_002335.4(LRP5):c.1585-9G>A rs202067798 0.00042
NM_003482.4(KMT2D):c.12096C>T (p.Ala4032=) rs370145169 0.00042
NM_004115.4(FGF14):c.579A>T (p.Ala193=) rs138607344 0.00042
NM_005529.7(HSPG2):c.10588C>T (p.Arg3530Trp) rs2270699 0.00042
NM_017739.4(POMGNT1):c.421-7C>A rs189274856 0.00042
NM_020247.5(COQ8A):c.258A>C (p.Ala86=) rs137872711 0.00042
NM_130837.3(OPA1):c.2984-4A>G rs184273607 0.00042
NM_201384.3(PLEC):c.963C>T (p.Phe321=) rs368425406 0.00042
NM_000144.5(FXN):c.118C>T (p.Arg40Cys) rs145854903 0.00041
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=) rs370346797 0.00041
NM_000435.3(NOTCH3):c.4858C>T (p.Leu1620=) rs144401090 0.00041
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys) rs200144345 0.00041
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027 0.00041
NM_001267550.2(TTN):c.79863G>A (p.Thr26621=) rs186402008 0.00041
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=) rs72648212 0.00041
NM_001267550.2(TTN):c.88459G>A (p.Val29487Met) rs200899806 0.00041
NM_002087.4(GRN):c.903G>A (p.Ser301=) rs63750142 0.00041
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=) rs143947828 0.00041
NM_003000.3(SDHB):c.158G>A (p.Gly53Glu) rs34916635 0.00041
NM_004320.6(ATP2A1):c.2458C>A (p.Pro820Thr) rs149282970 0.00041
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala) rs149837553 0.00041
NM_005660.3(SLC35A2):c.30C>G (p.Thr10=) rs373480204 0.00041
NM_017433.5(MYO3A):c.3255C>T (p.Ser1085=) rs35541310 0.00041
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_021625.5(TRPV4):c.1491+10C>T rs201815805 0.00041
NM_021942.6(TRAPPC11):c.3092C>G (p.Pro1031Arg) rs200466260 0.00041
NM_030962.4(SBF2):c.1965G>A (p.Thr655=) rs143732754 0.00041
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=) rs144418713 0.00041
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) rs41291047 0.00041
NM_182961.4(SYNE1):c.2728A>G (p.Ser910Gly) rs141214076 0.00041
NM_201384.3(PLEC):c.13111G>A (p.Ala4371Thr) rs200361523 0.00041
NM_000196.4(HSD11B2):c.177C>A (p.Ala59=) rs45562134 0.00040
NM_000368.5(TSC1):c.1773G>A (p.Pro591=) rs146578402 0.00040
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=) rs150570058 0.00040
NM_001267550.2(TTN):c.34294C>T (p.Pro11432Ser) rs534339525 0.00040
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met) rs201290358 0.00040
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) rs201080904 0.00040
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His) rs140250347 0.00040
NM_003611.3(OFD1):c.919G>A (p.Val307Ile) rs139444990 0.00040
NM_007126.5(VCP):c.832T>C (p.Leu278=) rs200670526 0.00040
NM_014363.6(SACS):c.2602A>G (p.Ile868Val) rs142284018 0.00040
NM_015295.3(SMCHD1):c.2151G>A (p.Ala717=) rs372945746 0.00040
NM_015443.4(KANSL1):c.571G>T (p.Gly191Cys) rs149566146 0.00040
NM_017780.4(CHD7):c.2751G>A (p.Thr917=) rs369429961 0.00040
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val) rs148508128 0.00040
NM_022464.5(SIL1):c.933G>A (p.Gly311=) rs61744666 0.00040
NM_130837.3(OPA1):c.2421G>T (p.Leu807=) rs148047706 0.00040
NM_178012.5(TUBB2B):c.602G>C (p.Cys201Ser) rs201922441 0.00040
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=) rs111511993 0.00040
NM_182961.4(SYNE1):c.14501G>A (p.Arg4834Gln) rs141883764 0.00040
NM_198578.4(LRRK2):c.825T>C (p.His275=) rs72546315 0.00040
NM_198994.3(TGM6):c.1011G>A (p.Glu337=) rs142832802 0.00040
NM_198994.3(TGM6):c.1705T>A (p.Tyr569Asn) rs142406714 0.00040
NM_201384.3(PLEC):c.8613C>T (p.Cys2871=) rs35821434 0.00040
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000484.4(APP):c.226G>A (p.Val76Ile) rs151188448 0.00039
NM_000540.3(RYR1):c.7788C>T (p.Thr2596=) rs199636890 0.00039
NM_000545.8(HNF1A):c.965A>G (p.Tyr322Cys) rs140491072 0.00039
NM_001009944.3(PKD1):c.6606G>A (p.Ala2202=) rs367600795 0.00039
NM_001031679.3(MSRB3):c.523G>A (p.Ala175Thr) rs200201418 0.00039
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln) rs199886234 0.00039
NM_001267550.2(TTN):c.26694G>T (p.Gly8898=) rs199525540 0.00039
NM_001365999.1(SZT2):c.6077C>A (p.Ala2026Glu) rs140427193 0.00039
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys) rs192813057 0.00039
NM_001458.5(FLNC):c.6120C>T (p.Asp2040=) rs116974302 0.00039
NM_004637.6(RAB7A):c.87G>A (p.Val29=) rs145441548 0.00039
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119 0.00039
NM_005097.4(LGI1):c.717A>C (p.Ile239=) rs146425212 0.00039
NM_005529.7(HSPG2):c.7826G>A (p.Arg2609Gln) rs147286334 0.00039
NM_006306.4(SMC1A):c.2824C>T (p.Leu942=) rs139654605 0.00039
NM_006946.4(SPTBN2):c.1719C>T (p.His573=) rs148207416 0.00039
NM_014874.4(MFN2):c.1827C>T (p.Ser609=) rs138724074 0.00039
NM_015046.7(SETX):c.3345C>G (p.Ala1115=) rs142020270 0.00039
NM_017882.3(CLN6):c.822G>A (p.Ala274=) rs151186473 0.00039
NM_017946.4(FKBP14):c.568_570del (p.Lys190del) rs762279651 0.00039
NM_032119.4(ADGRV1):c.14632C>T (p.Pro4878Ser) rs201072069 0.00039
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys) rs370906851 0.00039
NM_173500.4(TTBK2):c.3021A>G (p.Leu1007=) rs201662235 0.00039
NM_000051.4(ATM):c.6795C>T (p.Phe2265=) rs3218699 0.00038
NM_000209.4(PDX1):c.336C>G (p.Pro112=) rs149275902 0.00038
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571 0.00038
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999 0.00038
NM_001244008.2(KIF1A):c.2813G>A (p.Arg938Gln) rs192102667 0.00038
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940 0.00038
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser) rs201738153 0.00038
NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln) rs201622536 0.00038
NM_001267550.2(TTN):c.96016G>A (p.Val32006Met) rs191786700 0.00038
NM_001378452.1(ITPR1):c.7098C>T (p.Gly2366=) rs41290672 0.00038
NM_003560.4(PLA2G6):c.416G>A (p.Arg139His) rs141825182 0.00038
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln) rs139461096 0.00038
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) rs148604312 0.00038
NM_015046.7(SETX):c.654G>C (p.Lys218Asn) rs117861188 0.00038
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala) rs142303658 0.00038
NM_021098.3(CACNA1H):c.6579G>A (p.Ser2193=) rs200017975 0.00038
NM_030665.4(RAI1):c.1941C>T (p.Ser647=) rs140198185 0.00038
NM_032119.4(ADGRV1):c.10339G>A (p.Glu3447Lys) rs397517419 0.00038
NM_152393.4(KLHL40):c.238G>C (p.Asp80His) rs144461124 0.00038
NM_182961.4(SYNE1):c.11238A>G (p.Lys3746=) rs149393972 0.00038
NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=) rs141202420 0.00038
NM_182961.4(SYNE1):c.2065C>A (p.Arg689=) rs139480065 0.00038
NM_201384.3(PLEC):c.11329G>A (p.Glu3777Lys) rs538589589 0.00038
NM_201384.3(PLEC):c.3733C>A (p.Arg1245=) rs367688739 0.00038
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=) rs116640707 0.00037
NM_000088.4(COL1A1):c.2668-12A>G rs200355573 0.00037
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442 0.00037
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744 0.00037
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619 0.00037
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu) rs61752457 0.00037
NM_001042492.3(NF1):c.731-6A>C rs369366499 0.00037
NM_001145809.2(MYH14):c.1224C>T (p.Leu408=) rs145163585 0.00037
NM_001244008.2(KIF1A):c.4778C>T (p.Pro1593Leu) rs200902828 0.00037
NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn) rs143186270 0.00037
NM_001378120.1(MBD5):c.4401C>T (p.Val1467=) rs144957555 0.00037
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu) rs143982186 0.00037
NM_015295.3(SMCHD1):c.2838T>C (p.Ala946=) rs375251871 0.00037
NM_018136.5(ASPM):c.2263G>A (p.Ala755Thr) rs150852085 0.00037
NM_033380.3(COL4A5):c.2216C>A (p.Pro739His) rs201123438 0.00037
NM_182961.4(SYNE1):c.9420G>A (p.Ala3140=) rs188913729 0.00037
NM_213599.3(ANO5):c.720G>T (p.Leu240=) rs147121216 0.00037
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000257.4(MYH7):c.2349C>T (p.Arg783=) rs139882431 0.00036
NM_000334.4(SCN4A):c.2592C>T (p.Ala864=) rs200354336 0.00036
NM_000435.3(NOTCH3):c.1194C>T (p.Gly398=) rs140368657 0.00036
NM_000435.3(NOTCH3):c.3658C>T (p.Arg1220Trp) rs115872852 0.00036
NM_000435.3(NOTCH3):c.536G>T (p.Gly179Val) rs142778401 0.00036
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598 0.00036
NM_000533.5(PLP1):c.549C>A (p.Thr183=) rs184166250 0.00036
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=) rs193922584 0.00036
NM_000545.8(HNF1A):c.336G>A (p.Pro112=) rs371365341 0.00036
NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu) rs201724032 0.00036
NM_001128840.3(CACNA1D):c.3853G>A (p.Ala1285Thr) rs144474773 0.00036
NM_001130987.2(DYSF):c.3086-9C>T rs185350547 0.00036
NM_001267550.2(TTN):c.32093G>A (p.Arg10698Gln) rs200161147 0.00036
NM_001267550.2(TTN):c.55449C>T (p.Pro18483=) rs187366691 0.00036
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His) rs55850344 0.00036
NM_002303.6(LEPR):c.1835G>A (p.Arg612His) rs144159890 0.00036
NM_015046.7(SETX):c.5283A>G (p.Gln1761=) rs139063885 0.00036
NM_018136.5(ASPM):c.6702A>G (p.Gln2234=) rs142587742 0.00036
NM_018319.4(TDP1):c.774G>A (p.Ala258=) rs139270583 0.00036
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys) rs200128474 0.00036
NM_020822.3(KCNT1):c.885G>A (p.Ala295=) rs142756900 0.00036
NM_024596.5(MCPH1):c.489T>C (p.Thr163=) rs191104356 0.00036
NM_133433.4(NIPBL):c.198C>G (p.Val66=) rs146033170 0.00036
NM_181882.3(PRX):c.540G>A (p.Pro180=) rs371243093 0.00036
NM_198994.3(TGM6):c.115A>T (p.Ser39Cys) rs144201778 0.00036
NM_198994.3(TGM6):c.555C>T (p.Asp185=) rs144101264 0.00036
NM_201384.3(PLEC):c.8871G>A (p.Lys2957=) rs368326361 0.00036
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu) rs56127440 0.00035
NM_000435.3(NOTCH3):c.2580C>T (p.Asn860=) rs201436750 0.00035
NM_000435.3(NOTCH3):c.5200-4C>A rs375036447 0.00035
NM_000497.4(CYP11B1):c.554C>G (p.Thr185Ser) rs566921201 0.00035
NM_001042472.3(ABHD12):c.1041C>T (p.Ile347=) rs188888939 0.00035
NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro) rs199874790 0.00035
NM_001267550.2(TTN):c.32049A>G (p.Lys10683=) rs375408527 0.00035
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr) rs200001206 0.00035
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His) rs56071233 0.00035
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg) rs72648205 0.00035
NM_001292063.2(OTOG):c.5052C>T (p.Pro1684=) rs559123807 0.00035
NM_001365536.1(SCN9A):c.2964C>T (p.Leu988=) rs201430964 0.00035
NM_001378452.1(ITPR1):c.7959C>T (p.Ile2653=) rs371988852 0.00035
NM_001845.6(COL4A1):c.2669C>T (p.Pro890Leu) rs139859950 0.00035
NM_004733.4(SLC33A1):c.288A>C (p.Pro96=) rs200885656 0.00035
NM_006946.4(SPTBN2):c.3671A>G (p.Asn1224Ser) rs139077453 0.00035
NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser) rs575642464 0.00035
NM_014855.3(AP5Z1):c.2400G>A (p.Arg800=) rs368571200 0.00035
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp) rs147018359 0.00035
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu) rs201689819 0.00035
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=) rs138330966 0.00035
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn) rs138000380 0.00035
NM_032737.4(LMNB2):c.855+8C>T rs375918278 0.00035
NM_182961.4(SYNE1):c.22137C>T (p.Asp7379=) rs148556501 0.00035
NM_198578.4(LRRK2):c.7429C>T (p.Arg2477Trp) rs138780308 0.00035
NM_201384.3(PLEC):c.3533G>A (p.Arg1178Gln) rs782590380 0.00035
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000360.4(TH):c.1255G>A (p.Val419Met) rs184106392 0.00034
NM_000454.5(SOD1):c.423T>A (p.Ala141=) rs143100660 0.00034
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=) rs201200430 0.00034
NM_001164508.2(NEB):c.20162T>C (p.Leu6721Pro) rs111517514 0.00034
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met) rs199793620 0.00034
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys) rs199615557 0.00034
NM_001267550.2(TTN):c.64654A>G (p.Ile21552Val) rs201247592 0.00034
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=) rs139953862 0.00034
NM_001378452.1(ITPR1):c.4474G>A (p.Val1492Ile) rs200646875 0.00034
NM_001378452.1(ITPR1):c.6447C>T (p.Asn2149=) rs202123078 0.00034
NM_001845.6(COL4A1):c.3774T>C (p.Leu1258=) rs139578640 0.00034
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812 0.00034
NM_003680.4(YARS1):c.1008G>A (p.Leu336=) rs140232925 0.00034
NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys) rs142542453 0.00034
NM_014159.7(SETD2):c.2251C>A (p.Pro751Thr) rs115788094 0.00034
NM_014363.6(SACS):c.3828A>G (p.Pro1276=) rs369988818 0.00034
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu) rs143661911 0.00034
NM_015404.4(WHRN):c.1887G>A (p.Pro629=) rs143443833 0.00034
NM_018109.4(MTPAP):c.1607C>G (p.Pro536Arg) rs147174746 0.00034
NM_020247.5(COQ8A):c.1089C>T (p.Gly363=) rs139570869 0.00034
NM_020549.5(CHAT):c.2222G>A (p.Arg741Lys) rs114719193 0.00034
NM_021098.3(CACNA1H):c.2151G>A (p.Ser717=) rs200423899 0.00034
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=) rs200916673 0.00034
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala) rs144797744 0.00034
NM_201384.3(PLEC):c.6162C>T (p.His2054=) rs563719398 0.00034
NM_001009944.3(PKD1):c.5577T>C (p.Ala1859=) rs140662778 0.00033
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122 0.00033
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala) rs200213832 0.00033
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His) rs141258018 0.00033
NM_001961.4(EEF2):c.2109C>T (p.Asp703=) rs138319587 0.00033
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_004115.4(FGF14):c.123C>T (p.Asn41=) rs372705140 0.00033
NM_005548.3(KARS1):c.1485A>G (p.Ile495Met) rs144274136 0.00033
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr) rs767821521 0.00033
NM_175914.5(HNF4A):c.1176C>T (p.Asn392=) rs141448616 0.00033
NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys) rs149354607 0.00033
NM_201384.3(PLEC):c.7584G>A (p.Gln2528=) rs372858742 0.00033
NM_201525.4(ADGRG1):c.14C>T (p.Ser5Leu) rs147879224 0.00033
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg) rs150226817 0.00032
NM_000435.3(NOTCH3):c.1493-8C>T rs201202842 0.00032
NM_001009944.3(PKD1):c.951T>C (p.Ala317=) rs540366995 0.00032
NM_001083962.2(TCF4):c.966T>C (p.Asp322=) rs142998298 0.00032
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=) rs145412880 0.00032
NM_001161352.2(KCNMA1):c.90C>T (p.His30=) rs75040504 0.00032
NM_001244008.2(KIF1A):c.3468C>T (p.Ile1156=) rs201981364 0.00032
NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr) rs193212275 0.00032
NM_001267550.2(TTN):c.156C>T (p.Pro52=) rs72647842 0.00032
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) rs72648990 0.00032
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=) rs184863287 0.00032
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn) rs72646870 0.00032
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala) rs201381085 0.00032
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val) rs201490050 0.00032
NM_001267550.2(TTN):c.9789C>T (p.Ser3263=) rs138313387 0.00032
NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=) rs200728478 0.00032
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094 0.00032
NM_005529.7(HSPG2):c.13004-5G>A rs376645617 0.00032
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys) rs104895016 0.00032
NM_005629.4(SLC6A8):c.544G>A (p.Val182Met) rs149024147 0.00032
NM_006623.4(PHGDH):c.296C>G (p.Pro99Arg) rs182600362 0.00032
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys) rs140678034 0.00032
NM_014363.6(SACS):c.7725A>T (p.Ile2575=) rs200735789 0.00032
NM_015340.4(LARS2):c.1622+8G>A rs202009605 0.00032
NM_021830.5(TWNK):c.241C>G (p.Leu81Val) rs145068570 0.00032
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) rs36111204 0.00032
NM_030665.4(RAI1):c.4652C>T (p.Ser1551Leu) rs202158738 0.00032
NM_030665.4(RAI1):c.5079G>A (p.Pro1693=) rs748845443 0.00032
NM_032119.4(ADGRV1):c.12207C>T (p.Thr4069=) rs202066007 0.00032
NM_032737.4(LMNB2):c.574G>T (p.Ala192Ser) rs112419003 0.00032
NM_182914.3(SYNE2):c.5155A>G (p.Met1719Val) rs189676187 0.00032
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln) rs141586001 0.00032
NM_198576.4(AGRN):c.2277G>A (p.Pro759=) rs199985558 0.00032
NM_201384.3(PLEC):c.10105G>T (p.Val3369Leu) rs201373953 0.00032
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser) rs199915459 0.00031
NM_000092.5(COL4A4):c.3108T>C (p.Gly1036=) rs201962241 0.00031
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00031
NM_000337.6(SGCD):c.699+18C>G rs180898690 0.00031
NM_000360.4(TH):c.627C>G (p.Ile209Met) rs202149985 0.00031
NM_000447.3(PSEN2):c.520A>G (p.Met174Val) rs61757781 0.00031
NM_001182.5(ALDH7A1):c.858G>A (p.Val286=) rs150623275 0.00031
NM_001184880.2(PCDH19):c.1353G>A (p.Pro451=) rs373795773 0.00031
NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn) rs200141437 0.00031
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile) rs146000949 0.00031
NM_001267550.2(TTN):c.26019C>T (p.His8673=) rs370266918 0.00031
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr) rs181189778 0.00031
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile) rs374620001 0.00031
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro) rs186273940 0.00031
NM_001267550.2(TTN):c.93215G>A (p.Arg31072His) rs141817409 0.00031
NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys) rs140664731 0.00031
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029 0.00031
NM_001378452.1(ITPR1):c.141C>T (p.Asn47=) rs370939479 0.00031
NM_001378452.1(ITPR1):c.4854C>T (p.Ser1618=) rs373127487 0.00031
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly) rs149338158 0.00031
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val) rs551708243 0.00031
NM_002775.5(HTRA1):c.415T>G (p.Ser139Ala) rs530087850 0.00031
NM_003334.4(UBA1):c.1486G>A (p.Glu496Lys) rs140950898 0.00031
NM_003482.4(KMT2D):c.11670C>T (p.Ser3890=) rs376471354 0.00031
NM_004004.6(GJB2):c.499G>A (p.Val167Met) rs111033360 0.00031
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn) rs150821246 0.00031
NM_005529.7(HSPG2):c.1359G>A (p.Val453=) rs147812691 0.00031
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958 0.00031
NM_015443.4(KANSL1):c.2725-7A>G rs186818985 0.00031
NM_018109.4(MTPAP):c.1312+3A>G rs117698926 0.00031
NM_018136.5(ASPM):c.2968G>A (p.Asp990Asn) rs142537154 0.00031
NM_018136.5(ASPM):c.3772G>A (p.Ala1258Thr) rs142214506 0.00031
NM_022464.5(SIL1):c.1161G>A (p.Ala387=) rs140171020 0.00031
NM_172107.4(KCNQ2):c.1419C>T (p.Leu473=) rs370155790 0.00031
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) rs147143947 0.00031
NM_201384.3(PLEC):c.8315G>A (p.Arg2772His) rs201916690 0.00031
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln) rs63750592 0.00030
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser) rs55870064 0.00030
NM_000834.5(GRIN2B):c.4113C>T (p.Tyr1371=) rs146792012 0.00030
NM_001039.4(SCNN1G):c.1939G>T (p.Asp647Tyr) rs72647543 0.00030
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=) rs16010 0.00030
NM_001130987.2(DYSF):c.5478C>T (p.Val1826=) rs145143725 0.00030
NM_001165963.4(SCN1A):c.1000C>G (p.Leu334Val) rs201870762 0.00030
NM_001267550.2(TTN):c.34845C>T (p.Pro11615=) rs368781863 0.00030
NM_001267550.2(TTN):c.39057G>A (p.Pro13019=) rs371945519 0.00030
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly) rs201057307 0.00030
NM_001267550.2(TTN):c.70906C>T (p.Arg23636Cys) rs189208539 0.00030
NM_001267550.2(TTN):c.80271C>T (p.Val26757=) rs199875474 0.00030
NM_001267550.2(TTN):c.94863C>T (p.His31621=) rs373871146 0.00030
NM_001271.4(CHD2):c.5268G>C (p.Gln1756His) rs201950393 0.00030
NM_001845.6(COL4A1):c.1735G>A (p.Val579Ile) rs141527136 0.00030
NM_004281.4(BAG3):c.230C>T (p.Pro77Leu) rs141355480 0.00030
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994 0.00030
NM_014363.6(SACS):c.3042A>G (p.Leu1014=) rs141982796 0.00030
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro) rs140147684 0.00030
NM_017780.4(CHD7):c.2831G>A (p.Arg944His) rs117506164 0.00030
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=) rs528130317 0.00030
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_020822.3(KCNT1):c.1338-3C>T rs369562243 0.00030
NM_020822.3(KCNT1):c.2166G>A (p.Leu722=) rs374347802 0.00030
NM_030962.4(SBF2):c.1509A>G (p.Glu503=) rs143773975 0.00030
NM_030962.4(SBF2):c.3819C>T (p.Ser1273=) rs145351367 0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_182961.4(SYNE1):c.11343C>T (p.Gly3781=) rs150121030 0.00030
NM_201384.3(PLEC):c.174+10G>A rs181850748 0.00030
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg) rs141921797 0.00029
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000088.4(COL1A1):c.1983+9G>C rs201091992 0.00029
NM_000252.3(MTM1):c.582C>T (p.Leu194=) rs367912069 0.00029
NM_000334.4(SCN4A):c.218C>T (p.Pro73Leu) rs75086141 0.00029
NM_000337.6(SGCD):c.510G>A (p.Glu170=) rs368838376 0.00029
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036 0.00029
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=) rs116392938 0.00029
NM_000548.5(TSC2):c.1292C>T (p.Ala431Val) rs202187148 0.00029
NM_000548.5(TSC2):c.4680C>T (p.Ala1560=) rs139507276 0.00029
NM_000702.4(ATP1A2):c.246C>G (p.Pro82=) rs537472446 0.00029
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr) rs77710085 0.00029
NM_001009944.3(PKD1):c.8663G>A (p.Arg2888His) rs200168879 0.00029
NM_001077365.2(POMT1):c.1698+10C>A rs184131819 0.00029
NM_001083962.2(TCF4):c.790-9T>C rs373434281 0.00029
NM_001127222.2(CACNA1A):c.7274G>A (p.Gly2425Asp) rs555362569 0.00029
NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile) rs188917199 0.00029
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) rs199632397 0.00029
NM_001267550.2(TTN):c.49944G>A (p.Lys16648=) rs190021597 0.00029
NM_001267550.2(TTN):c.52008C>G (p.Val17336=) rs144507270 0.00029
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr) rs201804005 0.00029
NM_001267550.2(TTN):c.75682C>T (p.Pro25228Ser) rs377226540 0.00029
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys) rs200513274 0.00029
NM_001267550.2(TTN):c.99866-10C>T rs773128928 0.00029
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148 0.00029
NM_001378452.1(ITPR1):c.1380A>G (p.Leu460=) rs375697840 0.00029
NM_001378452.1(ITPR1):c.3921C>T (p.His1307=) rs61757108 0.00029
NM_001378452.1(ITPR1):c.7986C>T (p.Thr2662=) rs368405302 0.00029
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
NM_001961.4(EEF2):c.1470C>T (p.His490=) rs201757568 0.00029
NM_002529.4(NTRK1):c.1068C>T (p.Asn356=) rs145823996 0.00029
NM_004393.6(DAG1):c.286-10del rs747305463 0.00029
NM_004621.6(TRPC6):c.888G>A (p.Thr296=) rs144891994 0.00029
NM_005045.4(RELN):c.5643G>A (p.Leu1881=) rs141387255 0.00029
NM_005477.3(HCN4):c.1656C>T (p.His552=) rs148142070 0.00029
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val) rs150368988 0.00029
NM_014159.7(SETD2):c.4193T>C (p.Ile1398Thr) rs145732065 0.00029
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) rs137905181 0.00029
NM_016239.4(MYO15A):c.10121G>A (p.Arg3374His) rs201794696 0.00029
NM_018451.5(CPAP):c.1513G>A (p.Glu505Lys) rs145679691 0.00029
NM_021625.5(TRPV4):c.1464C>T (p.Thr488=) rs146841400 0.00029
NM_022489.4(INF2):c.639G>A (p.Ala213=) rs149858291 0.00029
NM_024411.5(PDYN):c.67C>T (p.Leu23=) rs77727400 0.00029
NM_030962.4(SBF2):c.1519G>A (p.Glu507Lys) rs139217120 0.00029
NM_030962.4(SBF2):c.4522C>T (p.Arg1508Cys) rs141108330 0.00029
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266 0.00029
NM_153033.5(KCTD7):c.387C>T (p.Ala129=) rs140932942 0.00029
NM_173500.4(TTBK2):c.1555G>C (p.Ala519Pro) rs200124857 0.00029
NM_173500.4(TTBK2):c.245G>C (p.Gly82Ala) rs200821440 0.00029
NM_182914.3(SYNE2):c.12043T>C (p.Tyr4015His) rs75665958 0.00029
NM_182961.4(SYNE1):c.16110C>A (p.His5370Gln) rs138277154 0.00029
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln) rs150387338 0.00029
NM_182961.4(SYNE1):c.24660C>T (p.His8220=) rs150811468 0.00029
NM_201384.3(PLEC):c.4524G>A (p.Gln1508=) rs370168097 0.00029
NM_201384.3(PLEC):c.6062C>T (p.Ala2021Val) rs367715805 0.00029
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile) rs3092831 0.00028
NM_000088.4(COL1A1):c.2613+13C>T rs368380161 0.00028
NM_000142.5(FGFR3):c.2396C>T (p.Pro799Leu) rs150452037 0.00028
NM_000232.5(SGCB):c.496A>G (p.Ile166Val) rs138877636 0.00028
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904 0.00028
NM_000435.3(NOTCH3):c.6632A>G (p.Tyr2211Cys) rs369813654 0.00028
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870 0.00028
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn) rs144963736 0.00028
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile) rs202160275 0.00028
NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser) rs376857956 0.00028
NM_001909.5(CTSD):c.1071+7G>A rs374010531 0.00028
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu) rs200294578 0.00028
NM_003560.4(PLA2G6):c.325C>G (p.His109Asp) rs142530390 0.00028
NM_004006.3(DMD):c.1666G>A (p.Asp556Asn) rs182708940 0.00028
NM_013382.7(POMT2):c.806G>A (p.Ser269Asn) rs375217032 0.00028
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) rs138048706 0.00028
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=) rs375633647 0.00028
NM_022464.5(SIL1):c.1167C>T (p.Pro389=) rs199890503 0.00028
NM_024577.4(SH3TC2):c.751C>T (p.Pro251Ser) rs144963732 0.00028
NM_024884.3(L2HGDH):c.1269A>G (p.Ala423=) rs369101323 0.00028
NM_182961.4(SYNE1):c.18870C>T (p.Ser6290=) rs138173087 0.00028
NM_000336.3(SCNN1B):c.880+10G>A rs200089599 0.00027
NM_000435.3(NOTCH3):c.2932A>C (p.Ser978Arg) rs141956294 0.00027
NM_000548.5(TSC2):c.3611-10G>A rs372045362 0.00027
NM_001009944.3(PKD1):c.11388C>G (p.Ala3796=) rs149331148 0.00027
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 0.00027
NM_001267550.2(TTN):c.75762G>T (p.Val25254=) rs374003257 0.00027
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln) rs201958805 0.00027
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032 0.00027
NM_001278064.2(GRM1):c.1602+9C>G rs376313056 0.00027
NM_001278116.2(L1CAM):c.113C>T (p.Thr38Met) rs201151358 0.00027
NM_001378969.1(KCND3):c.1959C>T (p.Ser653=) rs147087785 0.00027
NM_001614.5(ACTG1):c.126C>T (p.Gly42=) rs11549197 0.00027
NM_005529.7(HSPG2):c.8576C>T (p.Thr2859Met) rs139855779 0.00027
NM_006030.4(CACNA2D2):c.669T>C (p.Asn223=) rs141327265 0.00027
NM_013382.7(POMT2):c.66C>T (p.Gly22=) rs200670377 0.00027
NM_020247.5(COQ8A):c.62C>T (p.Ala21Val) rs142184584 0.00027
NM_021098.3(CACNA1H):c.5988C>T (p.His1996=) rs534974071 0.00027
NM_021942.6(TRAPPC11):c.1894-10C>T rs111381550 0.00027
NM_024426.6(WT1):c.1182C>T (p.Arg394=) rs147939483 0.00027
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile) rs56239539 0.00027
NM_144672.4(OTOA):c.921G>A (p.Ala307=) rs12051473 0.00027
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00027
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu) rs188146577 0.00027
NM_182961.4(SYNE1):c.9807+5C>T rs185350092 0.00027
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781 0.00026
NM_000144.5(FXN):c.179G>A (p.Arg60His) rs141858334 0.00026
NM_000334.4(SCN4A):c.1653C>T (p.Cys551=) rs201199086 0.00026
NM_000435.3(NOTCH3):c.3170C>T (p.Ala1057Val) rs368146879 0.00026
NM_000451.4(SHOX):c.86A>C (p.Lys29Thr) rs146304983 0.00026
NM_000458.4(HNF1B):c.1207-18T>C rs199849203 0.00026
NM_000548.5(TSC2):c.5068+9G>A rs45445593 0.00026
NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=) rs148929192 0.00026
NM_000726.5(CACNB4):c.54C>A (p.Pro18=) rs373222155 0.00026
NM_001009944.3(PKD1):c.11870G>A (p.Gly3957Asp) rs536586062 0.00026
NM_001009944.3(PKD1):c.5648C>T (p.Ala1883Val) rs779745348 0.00026
NM_001009944.3(PKD1):c.6965C>T (p.Thr2322Met) rs564570407 0.00026
NM_001127222.2(CACNA1A):c.1905C>T (p.Phe635=) rs115452236 0.00026
NM_001130438.3(SPTAN1):c.4595+4G>T rs185925523 0.00026
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=) rs150093305 0.00026
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile) rs370053963 0.00026
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=) rs184307461 0.00026
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=) rs72677223 0.00026
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln) rs199640194 0.00026
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val) rs750610895 0.00026
NM_001267550.2(TTN):c.78446C>G (p.Thr26149Ser) rs191263181 0.00026
NM_001267550.2(TTN):c.79941A>G (p.Gln26647=) rs72648208 0.00026
NM_001267550.2(TTN):c.90382A>T (p.Thr30128Ser) rs183939928 0.00026
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=) rs373206096 0.00026
NM_001379200.1(TBX1):c.1336C>T (p.Pro446Ser) rs201993443 0.00026
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His) rs191293931 0.00026
NM_004172.5(SLC1A3):c.68G>A (p.Arg23His) rs199774340 0.00026
NM_004287.5(GOSR2):c.336+1G>A rs141554661 0.00026
NM_005249.5(FOXG1):c.245C>A (p.Pro82Gln) rs796052453 0.00026
NM_006420.3(ARFGEF2):c.4346A>C (p.Asn1449Thr) rs200473895 0.00026
NM_015046.7(SETX):c.5998C>G (p.Gln2000Glu) rs142917412 0.00026
NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr) rs113434340 0.00026
NM_020822.3(KCNT1):c.2214G>A (p.Pro738=) rs142424896 0.00026
NM_021625.5(TRPV4):c.501C>T (p.Asp167=) rs77680510 0.00026
NM_022464.5(SIL1):c.984C>T (p.Leu328=) rs368666457 0.00026
NM_182961.4(SYNE1):c.1483A>G (p.Thr495Ala) rs200954103 0.00026
NM_198994.3(TGM6):c.1556A>C (p.Asn519Thr) rs374219808 0.00026
NM_201384.3(PLEC):c.9475G>A (p.Ala3159Thr) rs201030020 0.00026
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn) rs148993589 0.00025
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_000489.6(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002 0.00025
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp) rs45517295 0.00025
NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val) rs202068995 0.00025
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile) rs149101812 0.00025
NM_001009944.3(PKD1):c.10397C>T (p.Ser3466Leu) rs147464577 0.00025
NM_001009944.3(PKD1):c.8444C>T (p.Ala2815Val) rs183084156 0.00025
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788 0.00025
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=) rs572036869 0.00025
NM_001130438.3(SPTAN1):c.3912C>T (p.Pro1304=) rs143844598 0.00025
NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=) rs201566142 0.00025
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575 0.00025
NM_001267550.2(TTN):c.52656T>C (p.Pro17552=) rs371031259 0.00025
NM_001267550.2(TTN):c.62511T>C (p.Ser20837=) rs369467841 0.00025
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met) rs377506142 0.00025
NM_001378452.1(ITPR1):c.5766T>C (p.Asp1922=) rs201311531 0.00025
NM_001378452.1(ITPR1):c.6147C>T (p.Thr2049=) rs144178989 0.00025
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) rs202037973 0.00025
NM_003482.4(KMT2D):c.682C>G (p.Arg228Gly) rs201994402 0.00025
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val) rs139794766 0.00025
NM_005529.7(HSPG2):c.6105G>A (p.Gln2035=) rs371397998 0.00025
NM_020247.5(COQ8A):c.1188C>T (p.Asp396=) rs139133094 0.00025
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys) rs144147839 0.00025
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn) rs145132275 0.00025
NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys) rs201583659 0.00025
NM_058246.4(DNAJB6):c.860G>A (p.Arg287Gln) rs368078459 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_173500.4(TTBK2):c.1949C>T (p.Ala650Val) rs369045579 0.00025
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile) rs142204928 0.00025
NM_198994.3(TGM6):c.940G>A (p.Val314Met) rs202184911 0.00025
NM_201384.3(PLEC):c.4221G>A (p.Ala1407=) rs185790521 0.00025
NM_000026.4(ADSL):c.649C>G (p.His217Asp) rs199761158 0.00024
NM_000098.3(CPT2):c.1422C>A (p.Ala474=) rs192779168 0.00024
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met) rs200274258 0.00024
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014 0.00024
NM_000435.3(NOTCH3):c.5129G>A (p.Gly1710Asp) rs143411026 0.00024
NM_000435.3(NOTCH3):c.6573G>A (p.Pro2191=) rs576653145 0.00024
NM_000481.4(AMT):c.152C>T (p.Ala51Val) rs34812788 0.00024
NM_000545.8(HNF1A):c.1386C>T (p.Val462=) rs143015301 0.00024
NM_000548.5(TSC2):c.2451C>T (p.Asp817=) rs201442542 0.00024
NM_001009944.3(PKD1):c.9187C>T (p.Arg3063Cys) rs145906459 0.00024
NM_001040142.2(SCN2A):c.2923C>T (p.Leu975=) rs375858093 0.00024
NM_001040142.2(SCN2A):c.952G>A (p.Glu318Lys) rs149987700 0.00024
NM_001059.3(TACR3):c.1321C>T (p.Arg441Cys) rs146482011 0.00024
NM_001130987.2(DYSF):c.2421C>T (p.Ser807=) rs560856407 0.00024
NM_001244008.2(KIF1A):c.4744-5C>T rs117815481 0.00024
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) rs375448572 0.00024
NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys) rs72677229 0.00024
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys) rs72646839 0.00024
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val) rs200193877 0.00024
NM_001378030.1(CCDC78):c.1190G>A (p.Arg397His) rs150304459 0.00024
NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg) rs142744204 0.00024
NM_002693.3(POLG):c.2541C>T (p.Ala847=) rs143810171 0.00024
NM_002739.5(PRKCG):c.1281+9G>C rs370400523 0.00024
NM_003482.4(KMT2D):c.14635C>T (p.Leu4879=) rs368094058 0.00024
NM_003680.4(YARS1):c.510+10G>C rs201272488 0.00024
NM_004006.3(DMD):c.9165G>A (p.Thr3055=) rs137905486 0.00024
NM_004977.3(KCNC3):c.579C>G (p.Arg193=) rs138237939 0.00024
NM_005422.4(TECTA):c.327C>T (p.Gly109=) rs727504830 0.00024
NM_005529.7(HSPG2):c.9060G>A (p.Arg3020=) rs372508479 0.00024
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met) rs139469785 0.00024
NM_014363.6(SACS):c.2806C>A (p.Gln936Lys) rs61978562 0.00024
NM_017739.4(POMGNT1):c.1786-6C>T rs202028128 0.00024
NM_021098.3(CACNA1H):c.1517G>A (p.Arg506Gln) rs532223684 0.00024
NM_030665.4(RAI1):c.3589G>C (p.Gly1197Arg) rs200719553 0.00024
NM_173500.4(TTBK2):c.1618C>T (p.Leu540=) rs369686818 0.00024
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=) rs151081036 0.00024
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln) rs200812806 0.00024
NM_182961.4(SYNE1):c.22235G>A (p.Arg7412His) rs200135486 0.00024
NM_201384.3(PLEC):c.12475C>T (p.Arg4159Cys) rs201069314 0.00024
NM_201384.3(PLEC):c.2268C>T (p.Thr756=) rs371267446 0.00024
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg) rs201131924 0.00023
NM_000238.4(KCNH2):c.697G>T (p.Ala233Ser) rs772037564 0.00023
NM_000399.5(EGR2):c.174C>T (p.Gly58=) rs143793213 0.00023
NM_000548.5(TSC2):c.4929C>T (p.Asn1643=) rs45517381 0.00023
NM_000726.5(CACNB4):c.8C>T (p.Ser3Phe) rs542973906 0.00023
NM_001009944.3(PKD1):c.238C>T (p.Arg80Trp) rs551353498 0.00023
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly) rs773401427 0.00023
NM_001267550.2(TTN):c.28547G>A (p.Arg9516His) rs374156904 0.00023
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=) rs372635204 0.00023
NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala) rs377016580 0.00023
NM_001378452.1(ITPR1):c.255C>T (p.Asp85=) rs367814655 0.00023
NM_001927.4(DES):c.736-8C>A rs140375681 0.00023
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=) rs144434028 0.00023
NM_005271.5(GLUD1):c.393C>G (p.Val131=) rs147496974 0.00023
NM_007327.4(GRIN1):c.1005T>C (p.Thr335=) rs145176345 0.00023
NM_013275.6(ANKRD11):c.6580C>G (p.Gln2194Glu) rs201589586 0.00023
NM_014159.7(SETD2):c.19C>T (p.Gln7Ter) rs541943893 0.00023
NM_014363.6(SACS):c.1884C>T (p.Pro628=) rs144468379 0.00023
NM_020822.3(KCNT1):c.474G>A (p.Ser158=) rs139076605 0.00023
NM_022089.4(ATP13A2):c.2198C>T (p.Thr733Met) rs201883464 0.00023
NM_198904.4(GABRG2):c.922+6A>G rs375294947 0.00023
NM_201384.3(PLEC):c.12837C>T (p.Pro4279=) rs759030267 0.00023
NM_201384.3(PLEC):c.5811G>A (p.Ala1937=) rs199990259 0.00023
NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His) rs4915212 0.00022
NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=) rs141717649 0.00022
NM_000088.4(COL1A1):c.1638C>T (p.Ser546=) rs146450504 0.00022
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461 0.00022
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val) rs76636743 0.00022
NM_000098.3(CPT2):c.1598T>C (p.Val533Ala) rs144703247 0.00022
NM_000166.6(GJB1):c.507C>T (p.Asp169=) rs373334326 0.00022
NM_000209.4(PDX1):c.418G>A (p.Ala140Thr) rs143517122 0.00022
NM_000435.3(NOTCH3):c.6504G>C (p.Val2168=) rs546608637 0.00022
NM_000458.4(HNF1B):c.1594A>G (p.Met532Val) rs141193981 0.00022
NM_001008537.3(NEXMIF):c.3775G>A (p.Ala1259Thr) rs761368099 0.00022
NM_001009944.3(PKD1):c.3679G>T (p.Ala1227Ser) rs150710956 0.00022
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=) rs374307014 0.00022
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) rs375354077 0.00022
NM_001267550.2(TTN):c.107230A>G (p.Ile35744Val) rs142336788 0.00022
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys) rs192553687 0.00022
NM_001267550.2(TTN):c.27625A>G (p.Lys9209Glu) rs148355969 0.00022
NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu) rs200952728 0.00022
NM_001267550.2(TTN):c.33911-6_33911-5insG rs765503214 0.00022
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys) rs145039979 0.00022
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro) rs201674674 0.00022
NM_001267550.2(TTN):c.91173A>C (p.Glu30391Asp) rs199505541 0.00022
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641 0.00022
NM_001330260.2(SCN8A):c.5601G>A (p.Gln1867=) rs368449473 0.00022
NM_001378120.1(MBD5):c.276A>G (p.Ala92=) rs141855494 0.00022
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) rs63751100 0.00022
NM_002296.4(LBR):c.899A>G (p.Tyr300Cys) rs2230422 0.00022
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu) rs754765424 0.00022
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser) rs758633794 0.00022
NM_006946.4(SPTBN2):c.4800G>A (p.Ala1600=) rs146007976 0.00022
NM_013275.6(ANKRD11):c.2148A>G (p.Lys716=) rs371050776 0.00022
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr) rs147949881 0.00022
NM_020247.5(COQ8A):c.1900G>A (p.Glu634Lys) rs149335528 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_021098.3(CACNA1H):c.1495G>A (p.Gly499Ser) rs560915333 0.00022
NM_024577.4(SH3TC2):c.3049G>A (p.Ala1017Thr) rs186029710 0.00022
NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala) rs150157112 0.00022
NM_170665.4(ATP2A2):c.2310A>G (p.Glu770=) rs139120653 0.00022
NM_181882.3(PRX):c.993G>A (p.Pro331=) rs146323928 0.00022
NM_182961.4(SYNE1):c.14625G>A (p.Thr4875=) rs140118684 0.00022
NM_201384.3(PLEC):c.3958C>T (p.Arg1320Cys) rs372256096 0.00022
NM_000088.4(COL1A1):c.299-15C>T rs199523510 0.00021
NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=) rs374749325 0.00021
NM_000702.4(ATP1A2):c.2273G>C (p.Gly758Ala) rs147183887 0.00021
NM_001032221.6(STXBP1):c.627C>T (p.Leu209=) rs567071026 0.00021
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582 0.00021
NM_001039876.3(SYNE4):c.962G>A (p.Arg321Gln) rs150043310 0.00021
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444 0.00021
NM_001127222.2(CACNA1A):c.888C>T (p.Asn296=) rs372812865 0.00021
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr) rs142210216 0.00021
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732 0.00021
NM_001244710.2(GFPT1):c.223+5C>T rs200631666 0.00021
NM_001256545.2(MEGF10):c.50G>A (p.Cys17Tyr) rs145733370 0.00021
NM_001267550.2(TTN):c.12195T>C (p.Leu4065=) rs201129413 0.00021
NM_001267550.2(TTN):c.12955G>A (p.Ala4319Thr) rs150137596 0.00021
NM_001267550.2(TTN):c.5464A>C (p.Met1822Leu) rs201581947 0.00021
NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser) rs191927501 0.00021
NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp) rs540161344 0.00021
NM_001267550.2(TTN):c.81938G>A (p.Gly27313Glu) rs199670463 0.00021
NM_001376.5(DYNC1H1):c.4075-6C>T rs377411812 0.00021
NM_001378452.1(ITPR1):c.7389C>T (p.Phe2463=) rs200487406 0.00021
NM_001378452.1(ITPR1):c.7491C>T (p.Ser2497=) rs371986594 0.00021
NM_002047.4(GARS1):c.408A>G (p.Gln136=) rs200279483 0.00021
NM_002047.4(GARS1):c.51G>A (p.Leu17=) rs202117737 0.00021
NM_003482.4(KMT2D):c.6836G>A (p.Gly2279Glu) rs200578414 0.00021
NM_004006.3(DMD):c.3951G>A (p.Glu1317=) rs199643655 0.00021
NM_006922.4(SCN3A):c.3933T>C (p.Pro1311=) rs138766015 0.00021
NM_006946.4(SPTBN2):c.2064C>T (p.Gly688=) rs376219874 0.00021
NM_006946.4(SPTBN2):c.4374G>T (p.Glu1458Asp) rs142378119 0.00021
NM_014363.6(SACS):c.973G>A (p.Gly325Arg) rs144303334 0.00021
NM_023110.3(FGFR1):c.168G>A (p.Arg56=) rs147482922 0.00021
NM_024306.5(FA2H):c.271-8C>A rs199610820 0.00021
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met) rs139522696 0.00021
NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=) rs375255226 0.00021
NM_173500.4(TTBK2):c.1127G>A (p.Arg376His) rs368815985 0.00021
NM_173500.4(TTBK2):c.3543G>A (p.Ser1181=) rs199635198 0.00021
NM_175914.5(HNF4A):c.427-4G>A rs146751799 0.00021
NM_182914.3(SYNE2):c.3326G>A (p.Ser1109Asn) rs150464227 0.00021
NM_182961.4(SYNE1):c.11253+9G>A rs368012172 0.00021
NM_182961.4(SYNE1):c.16296G>A (p.Arg5432=) rs144376043 0.00021
NM_182961.4(SYNE1):c.19927T>C (p.Leu6643=) rs143118084 0.00021
NM_182961.4(SYNE1):c.2569-8C>T rs376033376 0.00021
NM_182961.4(SYNE1):c.26298A>G (p.Pro8766=) rs200880341 0.00021
NM_182961.4(SYNE1):c.8005-3C>T rs117084693 0.00021
NM_201384.3(PLEC):c.11634G>A (p.Ser3878=) rs375097273 0.00021
NM_201384.3(PLEC):c.2140A>G (p.Ile714Val) rs189137260 0.00021
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) rs200517944 0.00020
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys) rs375873637 0.00020
NM_001009944.3(PKD1):c.6395T>G (p.Phe2132Cys) rs150154235 0.00020
NM_001034116.2(EIF2B4):c.372A>G (p.Gly124=) rs141872864 0.00020
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=) rs200603552 0.00020
NM_001127222.2(CACNA1A):c.7189G>A (p.Val2397Met) rs768129470 0.00020
NM_001164508.2(NEB):c.6381T>A (p.Asp2127Glu) rs368302286 0.00020
NM_001267550.2(TTN):c.104516G>A (p.Arg34839Gln) rs371628882 0.00020
NM_001267550.2(TTN):c.28829G>A (p.Ser9610Asn) rs371759532 0.00020
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) rs373355159 0.00020
NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln) rs367720439 0.00020
NM_001267550.2(TTN):c.83133G>A (p.Lys27711=) rs369223412 0.00020
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe) rs201831707 0.00020
NM_001267550.2(TTN):c.93244G>A (p.Glu31082Lys) rs199663613 0.00020
NM_001278064.2(GRM1):c.2725A>C (p.Met909Leu) rs138759146 0.00020
NM_001370298.3(FGD4):c.1923-7A>G rs200542541 0.00020
NM_001378120.1(MBD5):c.1535C>T (p.Ser512Phe) rs201695275 0.00020
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln) rs149278000 0.00020
NM_002055.5(GFAP):c.676G>A (p.Val226Met) rs149883728 0.00020
NM_004006.3(DMD):c.1809G>A (p.Leu603=) rs192176661 0.00020
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279 0.00020
NM_004733.4(SLC33A1):c.847G>A (p.Glu283Lys) rs200789237 0.00020
NM_004738.5(VAPB):c.492C>T (p.Thr164=) rs139884809 0.00020
NM_004820.5(CYP7B1):c.90C>T (p.Leu30=) rs571177831 0.00020
NM_005249.5(FOXG1):c.456G>T (p.Gly152=) rs587783637 0.00020
NM_005591.4(MRE11):c.1286T>C (p.Val429Ala) rs141293060 0.00020
NM_006005.3(WFS1):c.2250C>T (p.Ala750=) rs369498603 0.00020
NM_006946.4(SPTBN2):c.2495G>A (p.Arg832Gln) rs749281906 0.00020
NM_006946.4(SPTBN2):c.5314G>A (p.Val1772Met) rs200189497 0.00020
NM_015046.7(SETX):c.1392A>G (p.Ser464=) rs144164119 0.00020
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) rs534886444 0.00020
NM_018136.5(ASPM):c.7428G>T (p.Lys2476Asn) rs200654820 0.00020
NM_018979.4(WNK1):c.5851A>G (p.Thr1951Ala) rs72650764 0.00020
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys) rs138908576 0.00020
NM_130837.3(OPA1):c.2592T>C (p.Leu864=) rs145999595 0.00020
NM_130837.3(OPA1):c.88C>T (p.Leu30=) rs185976555 0.00020
NM_182914.3(SYNE2):c.12655G>A (p.Ala4219Thr) rs138644399 0.00020
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu) rs138368397 0.00020
NM_182961.4(SYNE1):c.20142C>T (p.Ser6714=) rs201908045 0.00020
NM_182961.4(SYNE1):c.3669+4C>G rs376511242 0.00020
NM_198904.4(GABRG2):c.1320G>A (p.Gly440=) rs150727562 0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000033.4(ABCD1):c.1455A>C (p.Ser485=) rs150878397 0.00019
NM_000051.4(ATM):c.1272T>C (p.Pro424=) rs35578748 0.00019
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr) rs145812395 0.00019
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000092.5(COL4A4):c.929G>A (p.Arg310Gln) rs373741172 0.00019
NM_000209.4(PDX1):c.848G>A (p.Arg283Gln) rs754817283 0.00019
NM_000217.3(KCNA1):c.60G>C (p.Gln20His) rs201504073 0.00019
NM_000218.3(KCNQ1):c.386+16216G>A rs201090517 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000371.4(TTR):c.190T>C (p.Phe64Leu) rs138065384 0.00019
NM_000426.4(LAMA2):c.2325C>A (p.Asn775Lys) rs139351727 0.00019
NM_000435.3(NOTCH3):c.5114+10C>G rs369547319 0.00019
NM_000447.3(PSEN2):c.166G>A (p.Gly56Ser) rs188598190 0.00019
NM_000454.5(SOD1):c.239+6A>C rs374610141 0.00019
NM_000530.8(MPZ):c.51G>A (p.Leu17=) rs149637045 0.00019
NM_000726.5(CACNB4):c.*4T>C rs556761275 0.00019
NM_001002295.2(GATA3):c.216G>T (p.Val72=) rs560531559 0.00019
NM_001009944.3(PKD1):c.1117C>G (p.Leu373Val) rs765067070 0.00019
NM_001009944.3(PKD1):c.3600G>A (p.Ala1200=) rs372882189 0.00019
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) rs201299260 0.00019
NM_001127222.2(CACNA1A):c.1995G>A (p.Thr665=) rs376641545 0.00019
NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=) rs749357610 0.00019
NM_001127222.2(CACNA1A):c.3822C>T (p.Asn1274=) rs201230929 0.00019
NM_001127222.2(CACNA1A):c.6339+10G>C rs376238265 0.00019
NM_001130438.3(SPTAN1):c.3235C>G (p.Leu1079Val) rs559839676 0.00019
NM_001165963.4(SCN1A):c.694+10A>G rs373417440 0.00019
NM_001178015.2(SLC4A10):c.1443-8del rs771107746 0.00019
NM_001242896.3(DEPDC5):c.161A>C (p.Gln54Pro) rs201312113 0.00019
NM_001242896.3(DEPDC5):c.4391C>T (p.Thr1464Met) rs556147064 0.00019
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) rs368321767 0.00019
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln) rs200831060 0.00019
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met) rs72647868 0.00019
NM_001267550.2(TTN):c.3170T>C (p.Val1057Ala) rs145940356 0.00019
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys) rs376874956 0.00019
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) rs200503016 0.00019
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=) rs376539252 0.00019
NM_001267550.2(TTN):c.97578C>T (p.Asp32526=) rs142907833 0.00019
NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr) rs373694009 0.00019
NM_001378452.1(ITPR1):c.4164C>T (p.Val1388=) rs375770679 0.00019
NM_001378452.1(ITPR1):c.7701+3A>G rs533303665 0.00019
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) rs367662394 0.00019
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu) rs199557190 0.00019
NM_001961.4(EEF2):c.288C>T (p.Ala96=) rs369558753 0.00019
NM_002693.3(POLG):c.1743C>T (p.Asp581=) rs140743000 0.00019
NM_003482.4(KMT2D):c.14413G>A (p.Glu4805Lys) rs563335387 0.00019
NM_004086.3(COCH):c.22G>A (p.Ala8Thr) rs200935305 0.00019
NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile) rs367976914 0.00019
NM_004977.3(KCNC3):c.2013G>A (p.Ala671=) rs201255011 0.00019
NM_007375.4(TARDBP):c.1098C>G (p.Ala366=) rs148325203 0.00019
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) rs76872266 0.00019
NM_014363.6(SACS):c.9333T>C (p.Asn3111=) rs150532740 0.00019
NM_014874.4(MFN2):c.749G>A (p.Arg250Gln) rs140234726 0.00019
NM_015087.5(SPART):c.1414G>T (p.Ala472Ser) rs142482393 0.00019
NM_015346.4(ZFYVE26):c.6154G>A (p.Val2052Ile) rs201273304 0.00019
NM_015346.4(ZFYVE26):c.748G>A (p.Glu250Lys) rs200340910 0.00019
NM_020247.5(COQ8A):c.1332C>T (p.Thr444=) rs138727410 0.00019
NM_021942.6(TRAPPC11):c.2196T>C (p.Asn732=) rs375844076 0.00019
NM_032409.3(PINK1):c.858G>A (p.Pro286=) rs148144773 0.00019
NM_145239.3(PRRT2):c.225G>A (p.Pro75=) rs199662641 0.00019
NM_175914.5(HNF4A):c.576C>T (p.Asp192=) rs759574096 0.00019
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His) rs148522587 0.00019
NM_182961.4(SYNE1):c.10786G>A (p.Val3596Met) rs143034104 0.00019
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp) rs199761238 0.00019
NM_182961.4(SYNE1):c.18480C>T (p.Asp6160=) rs142251671 0.00019
NM_182961.4(SYNE1):c.18881A>T (p.Gln6294Leu) rs140090745 0.00019
NM_198578.4(LRRK2):c.3683G>C (p.Ser1228Thr) rs60185966 0.00019
NM_198994.3(TGM6):c.304G>A (p.Ala102Thr) rs150088385 0.00019
NM_201384.3(PLEC):c.8742C>T (p.Phe2914=) rs201211875 0.00019
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128 0.00018
NM_000088.4(COL1A1):c.1812T>C (p.Pro604=) rs151328660 0.00018
NM_000162.5(GCK):c.208+16C>T rs377747439 0.00018
NM_000166.6(GJB1):c.30C>T (p.Leu10=) rs183702021 0.00018
NM_000334.4(SCN4A):c.3285C>T (p.Asn1095=) rs371401377 0.00018
NM_000458.4(HNF1B):c.852C>T (p.His284=) rs149581999 0.00018
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala) rs201409107 0.00018
NM_001127222.2(CACNA1A):c.784+10C>T rs781363787 0.00018
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn) rs202123283 0.00018
NM_001164508.2(NEB):c.23377A>C (p.Met7793Leu) rs199957886 0.00018
NM_001244008.2(KIF1A):c.882+8G>A rs376552408 0.00018
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) rs372304158 0.00018
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser) rs201888760 0.00018
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser) rs72648922 0.00018
NM_001267550.2(TTN):c.25209T>C (p.Asp8403=) rs569860898 0.00018
NM_001267550.2(TTN):c.3069C>T (p.Thr1023=) rs371447978 0.00018
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln) rs373491468 0.00018
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853 0.00018
NM_001267550.2(TTN):c.80115G>T (p.Glu26705Asp) rs558830502 0.00018
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His) rs202149931 0.00018
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) rs200766837 0.00018
NM_001378452.1(ITPR1):c.4843-7G>A rs184969640 0.00018
NM_001378452.1(ITPR1):c.997-6C>T rs139421901 0.00018
NM_001378969.1(KCND3):c.789C>T (p.Asp263=) rs373264592 0.00018
NM_004082.5(DCTN1):c.837G>A (p.Ala279=) rs72466489 0.00018
NM_004098.4(EMX2):c.591+6T>C rs202171958 0.00018
NM_005045.4(RELN):c.10093G>A (p.Val3365Ile) rs115035120 0.00018
NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro) rs760663911 0.00018
NM_005529.7(HSPG2):c.6820G>A (p.Ala2274Thr) rs190391786 0.00018
NM_005591.4(MRE11):c.1667A>G (p.Asn556Ser) rs144896235 0.00018
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val) rs200786705 0.00018
NM_006009.4(TUBA1A):c.390G>C (p.Thr130=) rs1143559 0.00018
NM_006922.4(SCN3A):c.363T>C (p.Ala121=) rs145171998 0.00018
NM_006946.4(SPTBN2):c.3516C>T (p.His1172=) rs149829140 0.00018
NM_016239.4(MYO15A):c.8347G>A (p.Val2783Met) rs201214320 0.00018
NM_020822.3(KCNT1):c.3001A>G (p.Thr1001Ala) rs143780942 0.00018
NM_020822.3(KCNT1):c.637G>A (p.Val213Ile) rs143536408 0.00018
NM_022464.5(SIL1):c.1232G>A (p.Arg411His) rs192255604 0.00018
NM_024306.5(FA2H):c.925G>A (p.Val309Ile) rs150427439 0.00018
NM_170682.4(P2RX2):c.1363G>A (p.Glu455Lys) rs199955493 0.00018
NM_182961.4(SYNE1):c.24150C>T (p.His8050=) rs140259310 0.00018
NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met) rs201855218 0.00018
NM_201525.4(ADGRG1):c.401C>T (p.Pro134Leu) rs138344683 0.00018
NM_000023.4(SGCA):c.37+10G>T rs200626376 0.00017
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475 0.00017
NM_000162.5(GCK):c.-17C>T rs190731555 0.00017
NM_000170.3(GLDC):c.2352C>T (p.Pro784=) rs367781728 0.00017
NM_000297.4(PKD2):c.2286C>T (p.Tyr762=) rs555242193 0.00017
NM_000334.4(SCN4A):c.211C>T (p.Pro71Ser) rs187055074 0.00017
NM_000335.5(SCN5A):c.80G>A (p.Arg27His) rs199473045 0.00017
NM_000500.9(CYP21A2):c.342C>T (p.Ser114=) rs193922546 0.00017
NM_000545.8(HNF1A):c.1500C>T (p.His500=) rs201694197 0.00017
NM_000545.8(HNF1A):c.185A>G (p.Asn62Ser) rs377129682 0.00017
NM_001005361.3(DNM2):c.882G>A (p.Pro294=) rs144790170 0.00017
NM_001032382.2(PQBP1):c.264G>A (p.Ser88=) rs398124212 0.00017
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr) rs199498900 0.00017
NM_001099922.3(ALG13):c.383+1033G>A rs772039609 0.00017
NM_001127222.2(CACNA1A):c.4410C>T (p.Asp1470=) rs374555263 0.00017
NM_001127222.2(CACNA1A):c.4591-9C>G rs16032 0.00017
NM_001127222.2(CACNA1A):c.7050C>T (p.Ala2350=) rs932173199 0.00017
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) rs200497615 0.00017
NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn) rs373378672 0.00017
NM_001267550.2(TTN):c.22439A>C (p.Gln7480Pro) rs201065037 0.00017
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser) rs200355367 0.00017
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys) rs148018042 0.00017
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu) rs368820294 0.00017
NM_001267550.2(TTN):c.687T>C (p.Phe229=) rs376527094 0.00017
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly) rs573415766 0.00017
NM_001267550.2(TTN):c.84203G>C (p.Ser28068Thr) rs72648219 0.00017
NM_001354604.2(MITF):c.316C>T (p.Leu106Phe) rs371080525 0.00017
NM_001376.5(DYNC1H1):c.7290C>T (p.Asn2430=) rs112811548 0.00017
NM_001378969.1(KCND3):c.1106+10C>T rs377267051 0.00017
NM_001378969.1(KCND3):c.459G>A (p.Ser153=) rs755206508 0.00017
NM_001961.4(EEF2):c.633C>T (p.Thr211=) rs144298597 0.00017
NM_002693.3(POLG):c.2028G>A (p.Ala676=) rs373550219 0.00017
NM_003900.5(SQSTM1):c.1038G>A (p.Val346=) rs150470670 0.00017
NM_004172.5(SLC1A3):c.985G>A (p.Ala329Thr) rs200243548 0.00017
NM_004393.6(DAG1):c.1308G>A (p.Thr436=) rs143763229 0.00017
NM_005529.7(HSPG2):c.8554G>A (p.Gly2852Arg) rs199942544 0.00017
NM_006946.4(SPTBN2):c.168A>G (p.Glu56=) rs145112518 0.00017
NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg) rs3747834 0.00017
NM_014363.6(SACS):c.11928T>C (p.Ser3976=) rs145680118 0.00017
NM_014363.6(SACS):c.2492A>G (p.Glu831Gly) rs375968367 0.00017
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys) rs138379074 0.00017
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) rs61754478 0.00017
NM_014855.3(AP5Z1):c.1600G>T (p.Ala534Ser) rs372517211 0.00017
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp) rs139200312 0.00017
NM_015046.7(SETX):c.7100+9T>C rs200088320 0.00017
NM_015046.7(SETX):c.968G>A (p.Ser323Asn) rs372193033 0.00017
NM_018109.4(MTPAP):c.1313-3C>T rs201064853 0.00017
NM_018319.4(TDP1):c.379A>G (p.Thr127Ala) rs200900192 0.00017
NM_021098.3(CACNA1H):c.2604-5C>T rs191783113 0.00017
NM_021098.3(CACNA1H):c.6545G>A (p.Arg2182His) rs200724225 0.00017
NM_032119.4(ADGRV1):c.15471C>T (p.Ser5157=) rs146082509 0.00017
NM_033337.3(CAV3):c.234G>A (p.Thr78=) rs148846096 0.00017
NM_058246.4(DNAJB6):c.706G>A (p.Asp236Asn) rs556999563 0.00017
NM_153700.2(STRC):c.2640G>T (p.Glu880Asp) rs1342864499 0.00017
NM_170665.4(ATP2A2):c.1287+3A>G rs376753206 0.00017
NM_182961.4(SYNE1):c.582-9A>G rs200412221 0.00017
NM_201384.3(PLEC):c.4560C>T (p.Arg1520=) rs782412831 0.00017
NM_201384.3(PLEC):c.5761C>T (p.Arg1921Trp) rs201278290 0.00017
NM_201384.3(PLEC):c.6971G>A (p.Arg2324Gln) rs561571844 0.00017
NM_201384.3(PLEC):c.7527C>T (p.Ile2509=) rs782605503 0.00017
NM_201384.3(PLEC):c.801C>T (p.Asp267=) rs202218097 0.00017
NM_000051.4(ATM):c.7224G>A (p.Ser2408=) rs145747513 0.00016
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=) rs144883479 0.00016
NM_000209.4(PDX1):c.210G>T (p.Val70=) rs748725637 0.00016
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_000334.4(SCN4A):c.963C>T (p.Asn321=) rs748863960 0.00016
NM_000352.6(ABCC8):c.3000C>T (p.Cys1000=) rs192863214 0.00016
NM_000352.6(ABCC8):c.4412-14C>T rs193922404 0.00016
NM_000435.3(NOTCH3):c.5895G>A (p.Lys1965=) rs140567100 0.00016
NM_000525.4(KCNJ11):c.354G>A (p.Ser118=) rs140636367 0.00016
NM_001009944.3(PKD1):c.9009G>A (p.Ala3003=) rs374619113 0.00016
NM_001040142.2(SCN2A):c.4287T>C (p.Tyr1429=) rs150209984 0.00016
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=) rs368033271 0.00016
NM_001127222.2(CACNA1A):c.3384G>A (p.Pro1128=) rs370541345 0.00016
NM_001127222.2(CACNA1A):c.5170G>A (p.Asp1724Asn) rs371595464 0.00016
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) rs200957354 0.00016
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=) rs139983909 0.00016
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly) rs121918802 0.00016
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val) rs371826762 0.00016
NM_001267550.2(TTN):c.43315C>T (p.Arg14439Cys) rs200914097 0.00016
NM_001267550.2(TTN):c.54104C>T (p.Ala18035Val) rs182445366 0.00016
NM_001267550.2(TTN):c.54740T>C (p.Met18247Thr) rs200585270 0.00016
NM_001267550.2(TTN):c.64898G>A (p.Arg21633Gln) rs141965360 0.00016
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=) rs72646877 0.00016
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn) rs192468365 0.00016
NM_001267550.2(TTN):c.80417A>G (p.His26806Arg) rs181766682 0.00016
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln) rs200141081 0.00016
NM_001267550.2(TTN):c.96138A>T (p.Ile32046=) rs368154623 0.00016
NM_001267550.2(TTN):c.97055G>A (p.Arg32352His) rs575939045 0.00016
NM_001378452.1(ITPR1):c.2007-7T>G rs764512335 0.00016
NM_001927.4(DES):c.643G>A (p.Val215Met) rs144908941 0.00016
NM_001961.4(EEF2):c.543C>T (p.Ile181=) rs202047073 0.00016
NM_002693.3(POLG):c.1356T>C (p.Tyr452=) rs3176179 0.00016
NM_003482.4(KMT2D):c.11043G>A (p.Gln3681=) rs371444130 0.00016
NM_004172.5(SLC1A3):c.1425-8G>C rs202233020 0.00016
NM_004172.5(SLC1A3):c.676C>G (p.Arg226Gly) rs201069745 0.00016
NM_004562.3(PRKN):c.337_376del (p.Pro113fs) rs771529549 0.00016
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_004977.3(KCNC3):c.871-4G>T rs112673820 0.00016
NM_004984.4(KIF5A):c.2040G>A (p.Val680=) rs117670788 0.00016
NM_005055.5(RAPSN):c.1041G>A (p.Ala347=) rs149683345 0.00016
NM_005529.7(HSPG2):c.1549G>A (p.Ala517Thr) rs139719757 0.00016
NM_005529.7(HSPG2):c.6346G>A (p.Val2116Met) rs146462440 0.00016
NM_005591.4(MRE11):c.1643T>C (p.Ile548Thr) rs373522639 0.00016
NM_006946.4(SPTBN2):c.3804G>A (p.Gln1268=) rs143537378 0.00016
NM_006946.4(SPTBN2):c.5495T>G (p.Leu1832Arg) rs202081167 0.00016
NM_006946.4(SPTBN2):c.6798G>A (p.Ala2266=) rs140748364 0.00016
NM_006946.4(SPTBN2):c.768C>T (p.Pro256=) rs201821131 0.00016
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250 0.00016
NM_014363.6(SACS):c.6084A>T (p.Glu2028Asp) rs149018756 0.00016
NM_014363.6(SACS):c.99T>C (p.Asp33=) rs775206528 0.00016
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln) rs369697947 0.00016
NM_015046.7(SETX):c.6013G>A (p.Val2005Met) rs148568105 0.00016
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile) rs199874519 0.00016
NM_020247.5(COQ8A):c.730+7C>T rs370924314 0.00016
NM_020919.4(ALS2):c.1578A>G (p.Thr526=) rs147284131 0.00016
NM_024306.5(FA2H):c.1112C>T (p.Thr371Met) rs141854925 0.00016
NM_030665.4(RAI1):c.214G>A (p.Ala72Thr) rs370671656 0.00016
NM_080680.3(COL11A2):c.4863+7G>A rs200947059 0.00016
NM_130837.3(OPA1):c.1293C>T (p.Thr431=) rs111488647 0.00016
NM_152296.5(ATP1A3):c.6+3A>G rs369853936 0.00016
NM_170707.4(LMNA):c.895A>G (p.Ile299Val) rs150924946 0.00016
NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met) rs202173395 0.00016
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856 0.00016
NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn) rs142747430 0.00016
NM_201384.3(PLEC):c.4446G>A (p.Ala1482=) rs782202249 0.00016
NM_201384.3(PLEC):c.5029G>A (p.Gly1677Ser) rs373952777 0.00016
NM_000026.4(ADSL):c.357+6C>T rs181628906 0.00015
NM_000051.4(ATM):c.8584+10T>C rs373321041 0.00015
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00015
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met) rs147112322 0.00015
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964 0.00015
NM_000085.5(CLCNKB):c.656-9C>T rs201510495 0.00015
NM_000117.3(EMD):c.537G>A (p.Leu179=) rs368661339 0.00015
NM_000142.5(FGFR3):c.2259C>T (p.Thr753=) rs146662137 0.00015
NM_000142.5(FGFR3):c.930+10C>T rs534857289 0.00015
NM_000162.5(GCK):c.364-13G>A rs372405219 0.00015
NM_000217.3(KCNA1):c.114C>T (p.Arg38=) rs146308797 0.00015
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019 0.00015
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392 0.00015
NM_000748.3(CHRNB2):c.109C>T (p.Leu37=) rs71651693 0.00015
NM_001005361.3(DNM2):c.528C>T (p.Pro176=) rs147579870 0.00015
NM_001032221.6(STXBP1):c.281C>T (p.Pro94Leu) rs200802985 0.00015
NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His) rs201718767 0.00015
NM_001083961.2(WDR62):c.3087C>T (p.Cys1029=) rs141344823 0.00015
NM_001110792.2(MECP2):c.789C>T (p.Pro263=) rs63582063 0.00015
NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His) rs727503832 0.00015
NM_001130987.2(DYSF):c.1140C>T (p.Asp380=) rs373744398 0.00015
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln) rs115150240 0.00015
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln) rs367566671 0.00015
NM_001267550.2(TTN):c.55673G>A (p.Arg18558His) rs115867512 0.00015
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe) rs201541213 0.00015
NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln) rs148684589 0.00015
NM_001347702.2(SYNE1):c.1446A>G (p.Val482=) rs377088951 0.00015
NM_001376.5(DYNC1H1):c.2025T>C (p.Asn675=) rs140154194 0.00015
NM_001378120.1(MBD5):c.4857C>T (p.Gly1619=) rs543329958 0.00015
NM_001378452.1(ITPR1):c.1034G>A (p.Arg345Gln) rs201804963 0.00015
NM_001378452.1(ITPR1):c.2727G>A (p.Lys909=) rs187516662 0.00015
NM_001845.6(COL4A1):c.3170T>C (p.Ile1057Thr) rs569940067 0.00015
NM_001927.4(DES):c.243C>T (p.Ser81=) rs201594392 0.00015
NM_001961.4(EEF2):c.741C>T (p.Ala247=) rs150801930 0.00015
NM_002047.4(GARS1):c.270C>T (p.Asp90=) rs369898799 0.00015
NM_002087.4(GRN):c.705C>A (p.Pro235=) rs148507354 0.00015
NM_003482.4(KMT2D):c.14193G>A (p.Glu4731=) rs368920289 0.00015
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963 0.00015
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00015
NM_004006.3(DMD):c.1761A>G (p.Thr587=) rs370103963 0.00015
NM_004006.3(DMD):c.4072-3T>C rs751657094 0.00015
NM_004172.5(SLC1A3):c.182-8T>C rs758803628 0.00015
NM_004977.3(KCNC3):c.1941G>A (p.Pro647=) rs777792401 0.00015
NM_005619.5(RTN2):c.1630G>A (p.Ala544Thr) rs201387324 0.00015
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys) rs150283105 0.00015
NM_015192.4(PLCB1):c.639A>C (p.Arg213Ser) rs140899287 0.00015
NM_018136.5(ASPM):c.2761-11T>C rs368239890 0.00015
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114 0.00015
NM_021625.5(TRPV4):c.1278G>A (p.Thr426=) rs139179261 0.00015
NM_021912.5(GABRB3):c.44C>T (p.Ser15Phe) rs121913126 0.00015
NM_024301.5(FKRP):c.336C>T (p.Ala112=) rs1054339656 0.00015
NM_024411.5(PDYN):c.268G>A (p.Gly90Arg) rs201585283 0.00015
NM_033305.3(VPS13A):c.7047G>A (p.Glu2349=) rs552113529 0.00015
NM_145239.3(PRRT2):c.-30T>C rs202072359 0.00015
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg) rs199573774 0.00015
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe) rs200424447 0.00015
NM_182961.4(SYNE1):c.5488T>C (p.Leu1830=) rs118022241 0.00015
NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=) rs185829704 0.00015
NM_198578.4(LRRK2):c.3342A>G (p.Leu1114=) rs35808389 0.00015
NM_201384.3(PLEC):c.10417G>A (p.Gly3473Ser) rs201765507 0.00015
NM_201384.3(PLEC):c.11657G>A (p.Arg3886His) rs368152307 0.00015
NM_201384.3(PLEC):c.7369C>T (p.Arg2457Cys) rs200652637 0.00015
NM_000051.4(ATM):c.2927T>C (p.Val976Ala) rs146145357 0.00014
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp) rs147600485 0.00014
NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His) rs142102094 0.00014
NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln) rs377474103 0.00014
NM_000162.5(GCK):c.213C>T (p.Val71=) rs143128547 0.00014
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) rs587781246 0.00014
NM_000216.4(ANOS1):c.1698C>T (p.Thr566=) rs145982109 0.00014
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr) rs782481491 0.00014
NM_000426.4(LAMA2):c.5291A>G (p.Glu1764Gly) rs141950826 0.00014
NM_000426.4(LAMA2):c.7395T>C (p.Asp2465=) rs140483001 0.00014
NM_000435.3(NOTCH3):c.4455C>T (p.Asp1485=) rs552265898 0.00014
NM_000435.3(NOTCH3):c.6611C>T (p.Pro2204Leu) rs371738874 0.00014
NM_000548.5(TSC2):c.3489C>T (p.Ala1163=) rs200346578 0.00014
NM_000548.5(TSC2):c.4493+7C>A rs199943270 0.00014
NM_001005361.3(DNM2):c.2592C>T (p.Ala864=) rs373161548 0.00014
NM_001009944.3(PKD1):c.3069G>C (p.Gln1023His) rs568163462 0.00014
NM_001079872.2(CUL4B):c.1797C>T (p.Val599=) rs751833365 0.00014
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser) rs3763853 0.00014
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_001127222.2(CACNA1A):c.1500G>A (p.Thr500=) rs373192672 0.00014
NM_001127222.2(CACNA1A):c.5840-7C>T rs372261381 0.00014
NM_001127222.2(CACNA1A):c.6483C>T (p.Arg2161=) rs745609731 0.00014
NM_001127222.2(CACNA1A):c.796G>A (p.Gly266Ser) rs17846908 0.00014
NM_001127644.2(GABRA1):c.-4C>T rs375475234 0.00014
NM_001134407.3(GRIN2A):c.963C>T (p.Tyr321=) rs368200727 0.00014
NM_001165963.4(SCN1A):c.1790C>A (p.Thr597Asn) rs149715258 0.00014
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783 0.00014
NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg) rs553548392 0.00014
NM_001267550.2(TTN):c.26329G>A (p.Val8777Ile) rs376823283 0.00014
NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys) rs200902055 0.00014
NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu) rs374497665 0.00014
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu) rs200132226 0.00014
NM_001267550.2(TTN):c.56942C>T (p.Ala18981Val) rs397517627 0.00014
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=) rs375006117 0.00014
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=) rs369503828 0.00014
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) rs72648235 0.00014
NM_001267550.2(TTN):c.90793C>T (p.Arg30265Trp) rs200022152 0.00014
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln) rs374063064 0.00014
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=) rs371656672 0.00014
NM_001367561.1(DOCK7):c.3300+8A>G rs368422761 0.00014
NM_001378452.1(ITPR1):c.2616G>A (p.Arg872=) rs375533002 0.00014
NM_001378452.1(ITPR1):c.3669G>A (p.Val1223=) rs201263269 0.00014
NM_001378452.1(ITPR1):c.789C>T (p.Phe263=) rs369681244 0.00014
NM_001378969.1(KCND3):c.1292G>A (p.Arg431His) rs771703569 0.00014
NM_003482.4(KMT2D):c.14829G>A (p.Glu4943=) rs374958373 0.00014
NM_003482.4(KMT2D):c.2847G>A (p.Pro949=) rs369436545 0.00014
NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe) rs760733415 0.00014
NM_005045.4(RELN):c.3411C>T (p.Gly1137=) rs137974322 0.00014
NM_005477.3(HCN4):c.1738-6C>T rs760763085 0.00014
NM_005765.3(ATP6AP2):c.217C>T (p.Arg73Trp) rs749401561 0.00014
NM_006946.4(SPTBN2):c.2455C>T (p.Arg819Cys) rs141021167 0.00014
NM_006946.4(SPTBN2):c.3963A>G (p.Ala1321=) rs142480868 0.00014
NM_006946.4(SPTBN2):c.4485C>T (p.Arg1495=) rs145930414 0.00014
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser) rs147136530 0.00014
NM_018075.5(ANO10):c.1559C>T (p.Ala520Val) rs150026260 0.00014
NM_020247.5(COQ8A):c.1258G>A (p.Asp420Asn) rs147097934 0.00014
NM_020975.6(RET):c.1063+9G>A rs765463636 0.00014
NM_021098.3(CACNA1H):c.2583C>T (p.Asp861=) rs368201539 0.00014
NM_024411.5(PDYN):c.716G>A (p.Arg239Gln) rs185551108 0.00014
NM_030665.4(RAI1):c.4693G>A (p.Val1565Met) rs368106957 0.00014
NM_152564.5(VPS13B):c.7660G>C (p.Val2554Leu) rs202226215 0.00014
NM_173500.4(TTBK2):c.1354G>A (p.Glu452Lys) rs527763642 0.00014
NM_182961.4(SYNE1):c.25120-6A>G rs201898019 0.00014
NM_198994.3(TGM6):c.632G>A (p.Arg211His) rs192045738 0.00014
NM_201384.3(PLEC):c.11418C>T (p.Thr3806=) rs559510708 0.00014
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00014
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys) rs142073798 0.00014
NM_000051.4(ATM):c.1773T>C (p.Asn591=) rs61734356 0.00013
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys) rs201958469 0.00013
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr) rs149316679 0.00013
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=) rs142352627 0.00013
NM_000162.5(GCK):c.1288C>T (p.Leu430=) rs193922276 0.00013
NM_000371.4(TTR):c.384C>T (p.Ala128=) rs143906738 0.00013
NM_000435.3(NOTCH3):c.3569G>A (p.Arg1190His) rs372241697 0.00013
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met) rs199620476 0.00013
NM_000435.3(NOTCH3):c.6300G>A (p.Ser2100=) rs183839795 0.00013
NM_000451.4(SHOX):c.547G>A (p.Val183Ile) rs752189039 0.00013
NM_000726.5(CACNB4):c.1355G>A (p.Arg452Lys) rs762394421 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser) rs199947459 0.00013
NM_001009944.3(PKD1):c.7848C>T (p.Val2616=) rs143124196 0.00013
NM_001009944.3(PKD1):c.9169G>A (p.Val3057Met) rs778055216 0.00013
NM_001077365.2(POMT1):c.2061G>A (p.Ala687=) rs200916353 0.00013
NM_001127222.2(CACNA1A):c.3043G>A (p.Gly1015Arg) rs190551509 0.00013
NM_001127222.2(CACNA1A):c.539+9C>T rs369146237 0.00013
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln) rs199531140 0.00013
NM_001267550.2(TTN):c.23925C>T (p.Ser7975=) rs374879942 0.00013
NM_001267550.2(TTN):c.25758C>T (p.Asp8586=) rs372802604 0.00013
NM_001267550.2(TTN):c.35371G>T (p.Val11791Phe) rs200587998 0.00013
NM_001267550.2(TTN):c.36019G>C (p.Glu12007Gln) rs761660130 0.00013
NM_001267550.2(TTN):c.40250C>T (p.Pro13417Leu) rs537578226 0.00013
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) rs200944827 0.00013
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=) rs72677247 0.00013
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu) rs200968679 0.00013
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser) rs72648240 0.00013
NM_001347721.2(DYRK1A):c.489+9A>G rs187936450 0.00013
NM_001378452.1(ITPR1):c.1450G>A (p.Val484Ile) rs752031193 0.00013
NM_001378969.1(KCND3):c.696G>A (p.Ala232=) rs370453605 0.00013
NM_001379200.1(TBX1):c.594G>A (p.Thr198=) rs138724943 0.00013
NM_001849.4(COL6A2):c.219C>T (p.Phe73=) rs374336669 0.00013
NM_001961.4(EEF2):c.2133C>T (p.Ala711=) rs374126801 0.00013
NM_001961.4(EEF2):c.2313C>T (p.Phe771=) rs140987549 0.00013
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp) rs191486604 0.00013
NM_005477.3(HCN4):c.2730C>A (p.Phe910Leu) rs200814534 0.00013
NM_005477.3(HCN4):c.621C>G (p.Arg207=) rs727503958 0.00013
NM_005529.7(HSPG2):c.5891G>A (p.Arg1964Lys) rs373448635 0.00013
NM_006790.3(MYOT):c.342C>T (p.Ser114=) rs34593399 0.00013
NM_006946.4(SPTBN2):c.4022G>A (p.Arg1341Gln) rs149992317 0.00013
NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His) rs145522851 0.00013
NM_014363.6(SACS):c.1219C>A (p.Leu407Ile) rs201569239 0.00013
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val) rs186436335 0.00013
NM_015046.7(SETX):c.7490G>A (p.Ser2497Asn) rs61735488 0.00013
NM_015915.5(ATL1):c.1173C>T (p.His391=) rs149340140 0.00013
NM_018105.3(THAP1):c.489C>G (p.Leu163=) rs150542583 0.00013
NM_018109.4(MTPAP):c.916T>C (p.Leu306=) rs191209359 0.00013
NM_018136.5(ASPM):c.3960C>T (p.Leu1320=) rs148964635 0.00013
NM_020247.5(COQ8A):c.1572+7G>A rs371874740 0.00013
NM_020247.5(COQ8A):c.1644C>T (p.Thr548=) rs141423403 0.00013
NM_033380.3(COL4A5):c.3958C>T (p.Pro1320Ser) rs754836509 0.00013
NM_173500.4(TTBK2):c.1015C>T (p.Leu339Phe) rs371538715 0.00013
NM_173500.4(TTBK2):c.1100A>T (p.Lys367Ile) rs764753481 0.00013
NM_173500.4(TTBK2):c.1247A>G (p.Asn416Ser) rs200010694 0.00013
NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=) rs370053768 0.00013
NM_182961.4(SYNE1):c.21612C>T (p.Pro7204=) rs141170182 0.00013
NM_182961.4(SYNE1):c.3934G>A (p.Glu1312Lys) rs200276242 0.00013
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met) rs190867604 0.00013
NM_182961.4(SYNE1):c.8839C>G (p.Leu2947Val) rs756300560 0.00013
NM_198994.3(TGM6):c.379C>T (p.Arg127Trp) rs148854519 0.00013
NM_201384.3(PLEC):c.6786G>A (p.Thr2262=) rs373922545 0.00013
NM_213599.3(ANO5):c.2256G>A (p.Thr752=) rs144048656 0.00013
NM_000256.3(MYBPC3):c.501C>T (p.Thr167=) rs397516054 0.00012
NM_000257.4(MYH7):c.240C>T (p.Asn80=) rs200493975 0.00012
NM_000388.4(CASR):c.2777A>G (p.Gln926Arg) rs200263975 0.00012
NM_000406.3(GNRHR):c.719G>A (p.Arg240Gln) rs182531866 0.00012
NM_000435.3(NOTCH3):c.1774C>A (p.Arg592Ser) rs764148985 0.00012
NM_000435.3(NOTCH3):c.203C>T (p.Pro68Leu) rs146810942 0.00012
NM_000451.4(SHOX):c.698C>T (p.Ala233Val) rs750375727 0.00012
NM_000500.9(CYP21A2):c.327C>G (p.Ser109=) rs193922545 0.00012
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val) rs528213425 0.00012
NM_001099922.3(ALG13):c.2606C>T (p.Ala869Val) rs138712375 0.00012
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs) rs886041302 0.00012
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=) rs201236364 0.00012
NM_001267550.2(TTN):c.102156G>T (p.Arg34052=) rs376894729 0.00012
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile) rs397517478 0.00012
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser) rs560537668 0.00012
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg) rs374882815 0.00012
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile) rs141961878 0.00012
NM_001267550.2(TTN):c.28733C>T (p.Thr9578Met) rs184923756 0.00012
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser) rs201120871 0.00012
NM_001267550.2(TTN):c.4160T>C (p.Leu1387Pro) rs115303497 0.00012
NM_001267550.2(TTN):c.59236G>A (p.Gly19746Ser) rs372802352 0.00012
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln) rs370890454 0.00012
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser) rs368443217 0.00012
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys) rs775769503 0.00012
NM_001278116.2(L1CAM):c.3057T>G (p.Asp1019Glu) rs200815347 0.00012
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=) rs141133453 0.00012
NM_001378969.1(KCND3):c.1354G>A (p.Glu452Lys) rs200532657 0.00012
NM_002292.4(LAMB2):c.1206G>A (p.Arg402=) rs201999373 0.00012
NM_002547.3(OPHN1):c.12C>G (p.Pro4=) rs139546241 0.00012
NM_004082.5(DCTN1):c.3501C>T (p.His1167=) rs569997015 0.00012
NM_004172.5(SLC1A3):c.796G>A (p.Ala266Thr) rs146929198 0.00012
NM_004320.6(ATP2A1):c.870C>T (p.Arg290=) rs201786788 0.00012
NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys) rs748402153 0.00012
NM_005529.7(HSPG2):c.5191C>T (p.Leu1731Phe) rs201491948 0.00012
NM_005529.7(HSPG2):c.6468C>T (p.Ile2156=) rs369970075 0.00012
NM_006790.3(MYOT):c.571G>C (p.Gly191Arg) rs199789331 0.00012
NM_006946.4(SPTBN2):c.2022C>T (p.Thr674=) rs377439463 0.00012
NM_006946.4(SPTBN2):c.5310C>G (p.Ala1770=) rs142489577 0.00012
NM_006946.4(SPTBN2):c.5658C>T (p.Ala1886=) rs199624385 0.00012
NM_006946.4(SPTBN2):c.6572C>T (p.Pro2191Leu) rs199880827 0.00012
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn) rs144715822 0.00012
NM_014363.6(SACS):c.7641A>G (p.Lys2547=) rs780021681 0.00012
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) rs199529910 0.00012
NM_020919.4(ALS2):c.331G>A (p.Val111Ile) rs61745503 0.00012
NM_021098.3(CACNA1H):c.3283G>A (p.Asp1095Asn) rs748648178 0.00012
NM_021625.5(TRPV4):c.1398C>T (p.Phe466=) rs146929022 0.00012
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys) rs138103656 0.00012
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00012
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His) rs147667464 0.00012
NM_000051.4(ATM):c.6348-8T>C rs730881292 0.00011
NM_000162.5(GCK):c.363+9C>T rs200985182 0.00011
NM_000162.5(GCK):c.666C>T (p.Val222=) rs193922318 0.00011
NM_000162.5(GCK):c.9C>T (p.Asp3=) rs142553382 0.00011
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) rs372019457 0.00011
NM_000334.4(SCN4A):c.3004T>C (p.Trp1002Arg) rs544082594 0.00011
NM_000335.5(SCN5A):c.1019G>A (p.Arg340Gln) rs191009474 0.00011
NM_000335.5(SCN5A):c.2151G>A (p.Pro717=) rs191840835 0.00011
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly) rs199638166 0.00011
NM_000435.3(NOTCH3):c.6031G>A (p.Val2011Ile) rs142007575 0.00011
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met) rs148716935 0.00011
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile) rs140731590 0.00011
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) rs193922879 0.00011
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln) rs200069592 0.00011
NM_000545.8(HNF1A):c.1624-19G>A rs193922586 0.00011
NM_001005361.3(DNM2):c.1384A>G (p.Thr462Ala) rs201575500 0.00011
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) rs782697291 0.00011
NM_001122955.4(BSCL2):c.939C>T (p.Ile313=) rs200300686 0.00011
NM_001127222.2(CACNA1A):c.1782-6C>T rs201350764 0.00011
NM_001127222.2(CACNA1A):c.6468C>T (p.Arg2156=) rs745336852 0.00011
NM_001161352.2(KCNMA1):c.2838G>A (p.Ala946=) rs113441525 0.00011
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790 0.00011
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu) rs201905405 0.00011
NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=) rs587780850 0.00011
NM_001195248.2(APTX):c.762G>A (p.Pro254=) rs571475924 0.00011
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr) rs201112096 0.00011
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser) rs397517783 0.00011
NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr) rs377171054 0.00011
NM_001267550.2(TTN):c.16716A>G (p.Pro5572=) rs367821526 0.00011
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly) rs370812788 0.00011
NM_001267550.2(TTN):c.4668G>A (p.Pro1556=) rs145709534 0.00011
NM_001267550.2(TTN):c.66051G>A (p.Val22017=) rs587780981 0.00011
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile) rs377334665 0.00011
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu) rs142453163 0.00011
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val) rs201095164 0.00011
NM_001267550.2(TTN):c.90181G>A (p.Val30061Ile) rs138958733 0.00011
NM_001267550.2(TTN):c.91399C>T (p.Arg30467Cys) rs775591945 0.00011
NM_001267550.2(TTN):c.94980A>G (p.Glu31660=) rs370769662 0.00011
NM_001267550.2(TTN):c.98809A>G (p.Lys32937Glu) rs200544701 0.00011
NM_001378452.1(ITPR1):c.3457A>G (p.Met1153Val) rs199698357 0.00011
NM_001378452.1(ITPR1):c.7506C>T (p.Ser2502=) rs375227391 0.00011
NM_001540.5(HSPB1):c.16G>A (p.Val6Ile) rs1049324 0.00011
NM_001845.6(COL4A1):c.2160C>T (p.Gly720=) rs781133776 0.00011
NM_001853.4(COL9A3):c.245C>T (p.Pro82Leu) rs199653123 0.00011
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_001961.4(EEF2):c.811G>A (p.Gly271Ser) rs200480185 0.00011
NM_002047.4(GARS1):c.236G>A (p.Arg79Gln) rs369466037 0.00011
NM_002693.3(POLG):c.1066C>T (p.Leu356=) rs371431444 0.00011
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys) rs11546842 0.00011
NM_002693.3(POLG):c.87C>T (p.Ser29=) rs587781116 0.00011
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747 0.00011
NM_004172.5(SLC1A3):c.279G>A (p.Gln93=) rs375527461 0.00011
NM_004369.4(COL6A3):c.3507C>T (p.Asn1169=) rs138426138 0.00011
NM_004393.6(DAG1):c.1690C>A (p.Leu564Ile) rs199894361 0.00011
NM_004393.6(DAG1):c.219C>T (p.Val73=) rs145165301 0.00011
NM_004733.4(SLC33A1):c.750A>G (p.Gln250=) rs15594 0.00011
NM_004977.3(KCNC3):c.1767C>T (p.His589=) rs778272834 0.00011
NM_004977.3(KCNC3):c.1883C>T (p.Ala628Val) rs927538730 0.00011
NM_004977.3(KCNC3):c.1991A>G (p.Asn664Ser) rs199833067 0.00011
NM_004977.3(KCNC3):c.23C>G (p.Ser8Trp) rs761806977 0.00011
NM_005529.7(HSPG2):c.6927C>T (p.Tyr2309=) rs552716935 0.00011
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591 0.00011
NM_006158.5(NEFL):c.1458C>T (p.Ala486=) rs61726486 0.00011
NM_006946.4(SPTBN2):c.3431G>A (p.Arg1144Gln) rs558572111 0.00011
NM_006946.4(SPTBN2):c.406A>G (p.Met136Val) rs150610657 0.00011
NM_006946.4(SPTBN2):c.5339A>G (p.Asn1780Ser) rs375849761 0.00011
NM_013382.7(POMT2):c.648C>T (p.Cys216=) rs147871747 0.00011
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys) rs141553858 0.00011
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met) rs200810800 0.00011
NM_014365.3(HSPB8):c.503C>T (p.Ala168Val) rs373049356 0.00011
NM_014846.4(WASHC5):c.1007G>C (p.Arg336Thr) rs150430170 0.00011
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys) rs140116005 0.00011
NM_017866.6(TMEM70):c.317-2A>G rs183973249 0.00011
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg) rs563858170 0.00011
NM_018451.5(CPAP):c.3803G>A (p.Gly1268Asp) rs151090294 0.00011
NM_020247.5(COQ8A):c.1011C>T (p.Ala337=) rs36006006 0.00011
NM_020822.3(KCNT1):c.1422C>T (p.Arg474=) rs372250372 0.00011
NM_022124.6(CDH23):c.7394G>A (p.Arg2465Gln) rs199903227 0.00011
NM_025137.4(SPG11):c.5608T>C (p.Leu1870=) rs4254299 0.00011
NM_032119.4(ADGRV1):c.13496G>A (p.Arg4499His) rs375122809 0.00011
NM_032119.4(ADGRV1):c.18879C>T (p.Ile6293=) rs372350188 0.00011
NM_032119.4(ADGRV1):c.7806C>G (p.Pro2602=) rs200241260 0.00011
NM_032119.4(ADGRV1):c.8401G>A (p.Gly2801Arg) rs760510612 0.00011
NM_032737.4(LMNB2):c.1063G>A (p.Ala355Thr) rs143717863 0.00011
NM_033337.3(CAV3):c.204C>A (p.Ser68=) rs116840775 0.00011
NM_144988.4(ALG14):c.220G>A (p.Asp74Asn) rs769114543 0.00011
NM_173500.4(TTBK2):c.1408T>C (p.Cys470Arg) rs373500080 0.00011
NM_173500.4(TTBK2):c.3722A>C (p.Lys1241Thr) rs36104367 0.00011
NM_182914.3(SYNE2):c.7301G>A (p.Arg2434Gln) rs202200597 0.00011
NM_182961.4(SYNE1):c.13769A>G (p.Asn4590Ser) rs199827801 0.00011
NM_182961.4(SYNE1):c.226-2dup rs774388631 0.00011
NM_182961.4(SYNE1):c.8557A>G (p.Thr2853Ala) rs77853132 0.00011
NM_194454.3(KRIT1):c.1868G>A (p.Arg623His) rs143644029 0.00011
NM_198904.4(GABRG2):c.1207A>G (p.Thr403Ala) rs757868774 0.00011
NM_201384.3(PLEC):c.13006G>A (p.Val4336Ile) rs201163149 0.00011
NM_201384.3(PLEC):c.13471A>G (p.Thr4491Ala) rs782756146 0.00011
NM_201384.3(PLEC):c.2064G>A (p.Pro688=) rs374590279 0.00011
NM_201384.3(PLEC):c.6240C>T (p.Arg2080=) rs576688705 0.00011
NM_201384.3(PLEC):c.6248C>T (p.Ala2083Val) rs781878105 0.00011
NM_201384.3(PLEC):c.6841G>A (p.Ala2281Thr) rs200618217 0.00011
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00011
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile) rs200381392 0.00010
NM_000051.4(ATM):c.7494T>C (p.Ser2498=) rs34393781 0.00010
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711 0.00010
NM_000156.6(GAMT):c.707G>C (p.Gly236Ala) rs201029006 0.00010
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) rs397516293 0.00010
NM_000334.4(SCN4A):c.4410G>A (p.Thr1470=) rs534861830 0.00010
NM_000388.4(CASR):c.73C>T (p.Arg25Ter) rs201633414 0.00010
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034 0.00010
NM_000435.3(NOTCH3):c.5284G>A (p.Val1762Met) rs756495084 0.00010
NM_000722.4(CACNA2D1):c.1686G>C (p.Gly562=) rs148283249 0.00010
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501 0.00010
NM_001267550.2(TTN):c.104522G>A (p.Arg34841His) rs373709706 0.00010
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr) rs142414432 0.00010
NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp) rs369544339 0.00010
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser) rs144609506 0.00010
NM_001267550.2(TTN):c.44323G>A (p.Val14775Met) rs540115992 0.00010
NM_001267550.2(TTN):c.57544+7dup rs750881309 0.00010
NM_001267550.2(TTN):c.59248G>A (p.Gly19750Ser) rs200732032 0.00010
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile) rs369476725 0.00010
NM_001267550.2(TTN):c.63917G>A (p.Arg21306His) rs202240487 0.00010
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln) rs200639218 0.00010
NM_001267550.2(TTN):c.91434A>C (p.Glu30478Asp) rs373900294 0.00010
NM_001267550.2(TTN):c.95196G>A (p.Pro31732=) rs752309744 0.00010
NM_001330078.2(NRXN1):c.3090A>C (p.Gly1030=) rs201886024 0.00010
NM_001458.5(FLNC):c.2382G>A (p.Ala794=) rs536456072 0.00010
NM_001927.4(DES):c.1257C>T (p.Pro419=) rs143154982 0.00010
NM_001927.4(DES):c.216C>A (p.Ser72Arg) rs375719734 0.00010
NM_001961.4(EEF2):c.627C>T (p.Leu209=) rs145155508 0.00010
NM_001961.4(EEF2):c.810C>T (p.Asn270=) rs201754413 0.00010
NM_002693.3(POLG):c.2724C>T (p.Ala908=) rs377390914 0.00010
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_004369.4(COL6A3):c.543T>C (p.Asp181=) rs898779231 0.00010
NM_005045.4(RELN):c.1344C>G (p.Gly448=) rs144150588 0.00010
NM_005529.7(HSPG2):c.1844G>A (p.Arg615His) rs189089389 0.00010
NM_005529.7(HSPG2):c.4758C>T (p.Ala1586=) rs374708543 0.00010
NM_005591.4(MRE11):c.529G>A (p.Ala177Thr) rs142996063 0.00010
NM_005629.4(SLC6A8):c.912+9G>A rs782694291 0.00010
NM_005881.4(BCKDK):c.1104C>T (p.Phe368=) rs201614853 0.00010
NM_006946.4(SPTBN2):c.2382G>A (p.Glu794=) rs368173749 0.00010
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346 0.00010
NM_014159.7(SETD2):c.2798G>T (p.Gly933Val) rs202209141 0.00010
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu) rs201857647 0.00010
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg) rs529048339 0.00010
NM_014918.5(CHSY1):c.489G>A (p.Lys163=) rs146047900 0.00010
NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys) rs551406712 0.00010
NM_018972.4(GDAP1):c.72T>C (p.Val24=) rs142674939 0.00010
NM_020247.5(COQ8A):c.1612C>T (p.Arg538Trp) rs201331131 0.00010
NM_020247.5(COQ8A):c.1698G>A (p.Leu566=) rs543820987 0.00010
NM_021098.3(CACNA1H):c.2907+9C>T rs200631961 0.00010
NM_021098.3(CACNA1H):c.4836G>A (p.Ser1612=) rs58033848 0.00010
NM_022464.5(SIL1):c.849C>T (p.Leu283=) rs372816951 0.00010
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619 0.00010
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser) rs199815871 0.00010
NM_024577.4(SH3TC2):c.188G>A (p.Arg63Lys) rs747938069 0.00010
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00010
NM_030962.4(SBF2):c.3056A>T (p.Gln1019Leu) rs201964421 0.00010
NM_032737.4(LMNB2):c.1553C>T (p.Thr518Met) rs368745985 0.00010
NM_080680.3(COL11A2):c.4898G>A (p.Gly1633Asp) rs143920565 0.00010
NM_152296.5(ATP1A3):c.2226C>T (p.Asp742=) rs146600566 0.00010
NM_182914.3(SYNE2):c.12056T>G (p.Phe4019Cys) rs150105416 0.00010
NM_182961.4(SYNE1):c.10761C>T (p.Ser3587=) rs201715967 0.00010
NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser) rs149272010 0.00010
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=) rs371017408 0.00010
NM_182961.4(SYNE1):c.8360C>T (p.Thr2787Met) rs142676206 0.00010
NM_198994.3(TGM6):c.835G>A (p.Gly279Arg) rs375595045 0.00010
NM_201384.3(PLEC):c.10791C>T (p.Pro3597=) rs537994918 0.00010
NM_201384.3(PLEC):c.13636G>A (p.Val4546Met) rs573424409 0.00010
NM_201384.3(PLEC):c.2416C>T (p.Arg806Cys) rs372400636 0.00010
NM_201384.3(PLEC):c.6464C>T (p.Ala2155Val) rs201922111 0.00010
NM_201384.3(PLEC):c.9576C>T (p.Tyr3192=) rs201460864 0.00010
NM_201525.4(ADGRG1):c.1371C>T (p.Ser457=) rs747812668 0.00010
NM_201525.4(ADGRG1):c.26C>T (p.Thr9Met) rs200241873 0.00010
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=) rs201496204 0.00009
NM_000051.4(ATM):c.1351C>T (p.Arg451Cys) rs201719927 0.00009
NM_000051.4(ATM):c.4167A>G (p.Thr1389=) rs183214437 0.00009
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 0.00009
NM_000051.4(ATM):c.6382T>C (p.Leu2128=) rs753646931 0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474 0.00009
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792 0.00009
NM_000070.3(CAPN3):c.2311G>A (p.Ala771Thr) rs886043191 0.00009
NM_000144.5(FXN):c.384+8T>C rs367974156 0.00009
NM_000238.4(KCNH2):c.1437C>T (p.Asn479=) rs188818227 0.00009
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00009
NM_000257.4(MYH7):c.5361A>G (p.Glu1787=) rs201171029 0.00009
NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys) rs766463226 0.00009
NM_000334.4(SCN4A):c.1935C>T (p.Phe645=) rs181494727 0.00009
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229 0.00009
NM_000337.6(SGCD):c.123C>G (p.Leu41=) rs200670993 0.00009
NM_000371.4(TTR):c.354C>T (p.Asn118=) rs11541797 0.00009
NM_000435.3(NOTCH3):c.1854A>G (p.Glu618=) rs150438748 0.00009
NM_000435.3(NOTCH3):c.3421G>A (p.Val1141Met) rs373181668 0.00009
NM_000435.3(NOTCH3):c.4053C>T (p.Arg1351=) rs927758025 0.00009
NM_000435.3(NOTCH3):c.5900T>C (p.Met1967Thr) rs377589088 0.00009
NM_000497.4(CYP11B1):c.1451T>A (p.Val484Asp) rs374517238 0.00009
NM_000726.5(CACNB4):c.1031G>A (p.Arg344Gln) rs776608168 0.00009
NM_000726.5(CACNB4):c.91A>C (p.Ser31Arg) rs773391545 0.00009
NM_000834.5(GRIN2B):c.3837T>G (p.Thr1279=) rs1806200 0.00009
NM_001077365.2(POMT1):c.1149C>T (p.His383=) rs202121299 0.00009
NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys) rs782557713 0.00009
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380 0.00009
NM_001127222.2(CACNA1A):c.1225A>C (p.Thr409Pro) rs187259531 0.00009
NM_001127222.2(CACNA1A):c.2867G>T (p.Arg956Leu) rs551380805 0.00009
NM_001127222.2(CACNA1A):c.3544G>A (p.Val1182Ile) rs369742607 0.00009
NM_001127222.2(CACNA1A):c.979-10C>A rs374647321 0.00009
NM_001130438.3(SPTAN1):c.1689G>T (p.Met563Ile) rs373973880 0.00009
NM_001130987.2(DYSF):c.4037C>T (p.Ala1346Val) rs201476613 0.00009
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met) rs201649140 0.00009
NM_001244008.2(KIF1A):c.3871C>T (p.Arg1291Cys) rs199998986 0.00009
NM_001267550.2(TTN):c.102428T>C (p.Met34143Thr) rs397517786 0.00009
NM_001267550.2(TTN):c.107688G>A (p.Pro35896=) rs542575761 0.00009
NM_001267550.2(TTN):c.13689C>T (p.Asp4563=) rs369466156 0.00009
NM_001267550.2(TTN):c.14049C>T (p.Ser4683=) rs370208081 0.00009
NM_001267550.2(TTN):c.16934C>T (p.Pro5645Leu) rs370889765 0.00009
NM_001267550.2(TTN):c.17183-7C>T rs371785683 0.00009
NM_001267550.2(TTN):c.17806A>G (p.Ile5936Val) rs72648945 0.00009
NM_001267550.2(TTN):c.19818A>G (p.Lys6606=) rs397517492 0.00009
NM_001267550.2(TTN):c.21642C>T (p.Asn7214=) rs752620885 0.00009
NM_001267550.2(TTN):c.25145G>A (p.Arg8382His) rs199598066 0.00009
NM_001267550.2(TTN):c.31875A>C (p.Thr10625=) rs182934463 0.00009
NM_001267550.2(TTN):c.3608G>C (p.Gly1203Ala) rs564353179 0.00009
NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile) rs375474669 0.00009
NM_001267550.2(TTN):c.47133A>G (p.Ala15711=) rs573218266 0.00009
NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln) rs727503603 0.00009
NM_001267550.2(TTN):c.60146G>A (p.Arg20049His) rs200455644 0.00009
NM_001267550.2(TTN):c.62546C>T (p.Thr20849Met) rs372685222 0.00009
NM_001267550.2(TTN):c.63960T>A (p.Val21320=) rs397517655 0.00009
NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu) rs55992239 0.00009
NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp) rs534003014 0.00009
NM_001267550.2(TTN):c.79334G>A (p.Arg26445His) rs764254441 0.00009
NM_001267550.2(TTN):c.87280G>A (p.Glu29094Lys) rs199501185 0.00009
NM_001267550.2(TTN):c.89357C>T (p.Thr29786Ile) rs753966916 0.00009
NM_001267550.2(TTN):c.89515A>G (p.Ile29839Val) rs750806089 0.00009
NM_001267550.2(TTN):c.89947G>A (p.Val29983Met) rs397517746 0.00009
NM_001267550.2(TTN):c.90950T>C (p.Val30317Ala) rs759474127 0.00009
NM_001267550.2(TTN):c.93860T>C (p.Phe31287Ser) rs374887049 0.00009
NM_001378452.1(ITPR1):c.7926A>G (p.Glu2642=) rs763498610 0.00009
NM_001378969.1(KCND3):c.1062C>A (p.Ile354=) rs150934088 0.00009
NM_001378969.1(KCND3):c.207G>A (p.Thr69=) rs751347311 0.00009
NM_002693.3(POLG):c.1842C>T (p.Tyr614=) rs62640033 0.00009
NM_002739.5(PRKCG):c.1738C>T (p.Arg580Trp) rs149266855 0.00009
NM_003482.4(KMT2D):c.7198C>G (p.Pro2400Ala) rs35111108 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_004082.5(DCTN1):c.40A>G (p.Ser14Gly) rs758320436 0.00009
NM_004820.5(CYP7B1):c.757A>G (p.Lys253Glu) rs200328073 0.00009
NM_004977.3(KCNC3):c.1080C>T (p.Thr360=) rs142937043 0.00009
NM_006158.5(NEFL):c.628G>C (p.Glu210Gln) rs199422214 0.00009
NM_006493.4(CLN5):c.-4C>T rs587780896 0.00009
NM_006796.3(AFG3L2):c.634G>A (p.Val212Ile) rs201966169 0.00009
NM_006946.4(SPTBN2):c.1479C>T (p.Ala493=) rs150837212 0.00009
NM_006946.4(SPTBN2):c.2262C>T (p.Ala754=) rs368022952 0.00009
NM_006946.4(SPTBN2):c.249C>T (p.Ser83=) rs141552965 0.00009
NM_006946.4(SPTBN2):c.2834G>A (p.Arg945His) rs377663856 0.00009
NM_013275.6(ANKRD11):c.2213G>A (p.Arg738His) rs370690185 0.00009
NM_014141.6(CNTNAP2):c.402+8A>G rs201311931 0.00009
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys) rs373478772 0.00009
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu) rs375875022 0.00009
NM_014363.6(SACS):c.7288G>A (p.Glu2430Lys) rs201798841 0.00009
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) rs377357931 0.00009
NM_015046.7(SETX):c.2750T>C (p.Met917Thr) rs376022544 0.00009
NM_018109.4(MTPAP):c.1736G>A (p.Ser579Asn) rs148562969 0.00009
NM_022089.4(ATP13A2):c.477+2T>G rs758014228 0.00009
NM_024411.5(PDYN):c.635G>A (p.Arg212Gln) rs138498390 0.00009
NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr) rs375632680 0.00009
NM_032119.4(ADGRV1):c.14373T>A (p.Ala4791=) rs375062187 0.00009
NM_130837.3(OPA1):c.790-4T>A rs374509936 0.00009
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu) rs80338694 0.00009
NM_144599.5(NIPA1):c.266C>T (p.Ala89Val) rs548931873 0.00009
NM_182914.3(SYNE2):c.10760C>T (p.Ser3587Phe) rs748430621 0.00009
NM_182961.4(SYNE1):c.13421G>A (p.Arg4474Gln) rs771898973 0.00009
NM_182961.4(SYNE1):c.16038A>G (p.Leu5346=) rs192936944 0.00009
NM_182961.4(SYNE1):c.2893-5G>A rs370196519 0.00009
NM_198994.3(TGM6):c.951C>T (p.Phe317=) rs201333931 0.00009
NM_201384.3(PLEC):c.10157C>T (p.Ala3386Val) rs532234200 0.00009
NM_201384.3(PLEC):c.10728C>T (p.Gly3576=) rs372840016 0.00009
NM_201384.3(PLEC):c.113-6C>T rs782235036 0.00009
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181 0.00008
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864 0.00008
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) rs137854609 0.00008
NM_000368.5(TSC1):c.851G>A (p.Arg284His) rs151309813 0.00008
NM_000435.3(NOTCH3):c.2995-6C>T rs552141058 0.00008
NM_000435.3(NOTCH3):c.5376G>A (p.Pro1792=) rs374875084 0.00008
NM_001005361.3(DNM2):c.876G>A (p.Ser292=) rs749140605 0.00008
NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=) rs367546924 0.00008
NM_001097577.3(ANG):c.132C>T (p.Gly44=) rs147701713 0.00008
NM_001110556.2(FLNA):c.2613C>T (p.Asp871=) rs188212919 0.00008
NM_001110556.2(FLNA):c.7066A>C (p.Ser2356Arg) rs781823700 0.00008
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) rs202114767 0.00008
NM_001127222.2(CACNA1A):c.1368C>T (p.Ser456=) rs377458008 0.00008
NM_001127222.2(CACNA1A):c.6467G>A (p.Arg2156His) rs755749925 0.00008
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met) rs775539496 0.00008
NM_001136472.2(LITAF):c.27G>A (p.Ala9=) rs149518815 0.00008
NM_001244008.2(KIF1A):c.5070G>A (p.Thr1690=) rs201733233 0.00008
NM_001267550.2(TTN):c.1815T>C (p.Thr605=) rs757604614 0.00008
NM_001267550.2(TTN):c.21276C>T (p.Thr7092=) rs372264428 0.00008
NM_001267550.2(TTN):c.33742+8C>T rs375939001 0.00008
NM_001267550.2(TTN):c.39709+9G>C rs765647346 0.00008
NM_001267550.2(TTN):c.4049G>A (p.Arg1350His) rs539470256 0.00008
NM_001267550.2(TTN):c.54053A>T (p.Lys18018Met) rs368425364 0.00008
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His) rs72646868 0.00008
NM_001267550.2(TTN):c.68097G>C (p.Gln22699His) rs727504520 0.00008
NM_001267550.2(TTN):c.77913T>C (p.Tyr25971=) rs72648203 0.00008
NM_001267550.2(TTN):c.88246G>T (p.Val29416Phe) rs755325663 0.00008
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile) rs200476500 0.00008
NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys) rs371807358 0.00008
NM_001376.5(DYNC1H1):c.6795C>T (p.Tyr2265=) rs200339812 0.00008
NM_001378452.1(ITPR1):c.6348C>T (p.Asn2116=) rs182891619 0.00008
NM_001458.5(FLNC):c.6817G>A (p.Ala2273Thr) rs372251350 0.00008
NM_001851.6(COL9A1):c.166+5G>A rs544432669 0.00008
NM_001961.4(EEF2):c.444C>T (p.Ala148=) rs369366647 0.00008
NM_002047.4(GARS1):c.1716G>A (p.Pro572=) rs370608239 0.00008
NM_002473.6(MYH9):c.5338C>T (p.Arg1780Trp) rs527571090 0.00008
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) rs139590686 0.00008
NM_002693.3(POLG):c.408C>G (p.Asp136Glu) rs115109291 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_004463.3(FGD1):c.85G>C (p.Ala29Pro) rs752282314 0.00008
NM_005529.7(HSPG2):c.1507+9G>A rs371371189 0.00008
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu) rs28937890 0.00008
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr) rs371869943 0.00008
NM_014363.6(SACS):c.5744A>G (p.His1915Arg) rs144822691 0.00008
NM_014874.4(MFN2):c.160G>A (p.Ala54Thr) rs61733203 0.00008
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg) rs141266068 0.00008
NM_015046.7(SETX):c.4677A>G (p.Lys1559=) rs200123129 0.00008
NM_015046.7(SETX):c.5271A>G (p.Glu1757=) rs200499115 0.00008
NM_015559.3(SETBP1):c.3481G>C (p.Asp1161His) rs199578000 0.00008
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln) rs145754721 0.00008
NM_020247.5(COQ8A):c.794G>A (p.Arg265His) rs199696414 0.00008
NM_024596.5(MCPH1):c.2395C>T (p.Pro799Ser) rs369127299 0.00008
NM_032119.4(ADGRV1):c.15113T>C (p.Ile5038Thr) rs192561791 0.00008
NM_152296.5(ATP1A3):c.1131A>G (p.Thr377=) rs143242360 0.00008
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_173500.4(TTBK2):c.3420A>G (p.Pro1140=) rs201347313 0.00008
NM_182914.3(SYNE2):c.1218G>A (p.Met406Ile) rs768665395 0.00008
NM_182961.4(SYNE1):c.7308C>T (p.Thr2436=) rs144910464 0.00008
NM_182961.4(SYNE1):c.8403C>T (p.Tyr2801=) rs757104773 0.00008
NM_198578.4(LRRK2):c.2771G>A (p.Arg924His) rs200795874 0.00008
NM_201384.3(PLEC):c.2829G>A (p.Ala943=) rs369370495 0.00008
NM_201384.3(PLEC):c.9167C>A (p.Ala3056Asp) rs373831849 0.00008
NM_201384.3(PLEC):c.9749C>T (p.Thr3250Met) rs201349099 0.00008
NM_000069.3(CACNA1S):c.4468C>T (p.Leu1490=) rs149036408 0.00007
NM_000142.5(FGFR3):c.1879G>A (p.Glu627Lys) rs200849753 0.00007
NM_000166.6(GJB1):c.-101C>T rs961829342 0.00007
NM_000335.5(SCN5A):c.3537G>A (p.Ala1179=) rs370990219 0.00007
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096 0.00007
NM_000435.3(NOTCH3):c.269G>A (p.Arg90His) rs754726425 0.00007
NM_000435.3(NOTCH3):c.3575C>T (p.Thr1192Ile) rs150811543 0.00007
NM_000435.3(NOTCH3):c.4404C>T (p.Asn1468=) rs145425679 0.00007
NM_000435.3(NOTCH3):c.487C>T (p.Arg163Trp) rs367707092 0.00007
NM_000435.3(NOTCH3):c.5678G>A (p.Arg1893Gln) rs372834264 0.00007
NM_000435.3(NOTCH3):c.6024G>A (p.Pro2008=) rs766274305 0.00007
NM_000489.6(ATRX):c.3527A>T (p.Lys1176Met) rs191563592 0.00007
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val) rs770199817 0.00007
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys) rs754476250 0.00007
NM_000545.8(HNF1A):c.1502-14T>C rs765596650 0.00007
NM_001009944.3(PKD1):c.11577G>T (p.Pro3859=) rs374609310 0.00007
NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val) rs746910149 0.00007
NM_001037.5(SCN1B):c.449-3C>A rs370937269 0.00007
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00007
NM_001134407.3(GRIN2A):c.3898A>G (p.Arg1300Gly) rs372353067 0.00007
NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=) rs368785509 0.00007
NM_001184880.2(PCDH19):c.3262G>A (p.Ala1088Thr) rs370078729 0.00007
NM_001267550.2(TTN):c.25616G>T (p.Cys8539Phe) rs550882549 0.00007
NM_001267550.2(TTN):c.44423A>C (p.Lys14808Thr) rs374419129 0.00007
NM_001267550.2(TTN):c.52890C>T (p.Thr17630=) rs374228930 0.00007
NM_001267550.2(TTN):c.53807G>A (p.Arg17936His) rs727503604 0.00007
NM_001267550.2(TTN):c.561G>A (p.Ser187=) rs141444282 0.00007
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu) rs397517662 0.00007
NM_001267550.2(TTN):c.70506G>T (p.Gly23502=) rs181702963 0.00007
NM_001267550.2(TTN):c.77043T>C (p.Tyr25681=) rs370810609 0.00007
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=) rs375398118 0.00007
NM_001330078.2(NRXN1):c.1688T>C (p.Ile563Thr) rs201837579 0.00007
NM_001378452.1(ITPR1):c.2187C>T (p.Asp729=) rs376805768 0.00007
NM_001844.5(COL2A1):c.2949C>T (p.Val983=) rs201719788 0.00007
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00007
NM_002047.4(GARS1):c.562G>A (p.Val188Ile) rs376772628 0.00007
NM_002055.5(GFAP):c.848A>G (p.Asn283Ser) rs201382676 0.00007
NM_002087.4(GRN):c.1742A>T (p.Asp581Val) rs768223928 0.00007
NM_002296.4(LBR):c.837+4C>T rs538103502 0.00007
NM_002693.3(POLG):c.2051A>G (p.Asn684Ser) rs202244328 0.00007
NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp) rs369544574 0.00007
NM_002739.5(PRKCG):c.2075T>G (p.Val692Gly) rs78437096 0.00007
NM_004082.5(DCTN1):c.2278A>G (p.Met760Val) rs754780894 0.00007
NM_004172.5(SLC1A3):c.1496G>A (p.Arg499Gln) rs138085358 0.00007
NM_005477.3(HCN4):c.1243G>A (p.Val415Met) rs201978086 0.00007
NM_006158.5(NEFL):c.279G>A (p.Gln93=) rs60737254 0.00007
NM_006796.3(AFG3L2):c.1866G>A (p.Leu622=) rs777264204 0.00007
NM_006946.4(SPTBN2):c.1504A>G (p.Ile502Val) rs751351000 0.00007
NM_006946.4(SPTBN2):c.2934C>G (p.Thr978=) rs777698637 0.00007
NM_006946.4(SPTBN2):c.3194G>A (p.Arg1065Gln) rs753324919 0.00007
NM_006946.4(SPTBN2):c.5474C>T (p.Pro1825Leu) rs140642213 0.00007
NM_007325.5(GRIA3):c.1772G>A (p.Arg591His) rs769866687 0.00007
NM_007375.4(TARDBP):c.669C>G (p.Pro223=) rs149517613 0.00007
NM_012233.3(RAB3GAP1):c.724T>C (p.Tyr242His) rs577915245 0.00007
NM_014363.6(SACS):c.10238A>G (p.Tyr3413Cys) rs371980996 0.00007
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr) rs201505036 0.00007
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln) rs148925505 0.00007
NM_014363.6(SACS):c.13039A>G (p.Ile4347Val) rs200939906 0.00007
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly) rs200333323 0.00007
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys) rs375805688 0.00007
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu) rs373226693 0.00007
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu) rs370095300 0.00007
NM_014363.6(SACS):c.6576C>T (p.Ile2192=) rs145327845 0.00007
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314 0.00007
NM_014467.3(SRPX2):c.248T>C (p.Leu83Pro) rs141168255 0.00007
NM_014855.3(AP5Z1):c.259G>A (p.Ala87Thr) rs775883752 0.00007
NM_018075.5(ANO10):c.488C>T (p.Thr163Met) rs201340219 0.00007
NM_018105.3(THAP1):c.590G>A (p.Gly197Asp) rs140694378 0.00007
NM_018109.4(MTPAP):c.486C>T (p.Arg162=) rs150489876 0.00007
NM_020247.5(COQ8A):c.1899C>T (p.Phe633=) rs150569155 0.00007
NM_021625.5(TRPV4):c.143C>T (p.Ser48Leu) rs756185743 0.00007
NM_022089.4(ATP13A2):c.3473G>A (p.Arg1158His) rs544885605 0.00007
NM_024334.3(TMEM43):c.802C>T (p.Arg268Trp) rs201138253 0.00007
NM_024411.5(PDYN):c.520C>T (p.Arg174Cys) rs567558964 0.00007
NM_032119.4(ADGRV1):c.13228G>A (p.Glu4410Lys) rs371970388 0.00007
NM_033380.3(COL4A5):c.646-6C>T rs200151467 0.00007
NM_130837.3(OPA1):c.1377+10T>C rs200114656 0.00007
NM_182961.4(SYNE1):c.15175C>T (p.Leu5059=) rs763930147 0.00007
NM_182961.4(SYNE1):c.22038A>G (p.Ser7346=) rs201392317 0.00007
NM_182961.4(SYNE1):c.24348G>A (p.Ala8116=) rs371204427 0.00007
NM_182961.4(SYNE1):c.4377C>T (p.Ser1459=) rs146567226 0.00007
NM_198994.3(TGM6):c.1102C>T (p.Arg368Trp) rs201326247 0.00007
NM_198994.3(TGM6):c.1668G>T (p.Gly556=) rs781154109 0.00007
NM_201384.3(PLEC):c.4326G>A (p.Ala1442=) rs369943756 0.00007
NM_201384.3(PLEC):c.5508G>A (p.Ala1836=) rs782631413 0.00007
NM_000021.4(PSEN1):c.96T>C (p.Asn32=) rs201759335 0.00006
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435 0.00006
NM_000051.4(ATM):c.5352C>T (p.Asn1784=) rs140641762 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser) rs587780632 0.00006
NM_000051.4(ATM):c.7062G>A (p.Ala2354=) rs143489373 0.00006
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His) rs146696298 0.00006
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly) rs201736037 0.00006
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) rs777685454 0.00006
NM_000092.5(COL4A4):c.2079C>T (p.Pro693=) rs200010601 0.00006
NM_000117.3(EMD):c.454C>T (p.Arg152Cys) rs376456050 0.00006
NM_000156.6(GAMT):c.670G>A (p.Ala224Thr) rs141471799 0.00006
NM_000162.5(GCK):c.363+10G>A rs758495950 0.00006
NM_000166.6(GJB1):c.671G>A (p.Arg224His) rs201697702 0.00006
NM_000334.4(SCN4A):c.1902C>T (p.Pro634=) rs368811155 0.00006
NM_000334.4(SCN4A):c.4916G>A (p.Arg1639His) rs368186423 0.00006
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=) rs189230866 0.00006
NM_000335.5(SCN5A):c.393-5C>A rs368678204 0.00006
NM_000352.6(ABCC8):c.4733G>A (p.Arg1578His) rs143557848 0.00006
NM_000414.4(HSD17B4):c.58+190T>A rs1001866915 0.00006
NM_000435.3(NOTCH3):c.120C>G (p.Ala40=) rs146904189 0.00006
NM_000435.3(NOTCH3):c.1416G>T (p.Glu472Asp) rs1416152273 0.00006
NM_000435.3(NOTCH3):c.1840+8C>T rs372100017 0.00006
NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu) rs778715118 0.00006
NM_000435.3(NOTCH3):c.5937C>T (p.Ala1979=) rs570392715 0.00006
NM_000435.3(NOTCH3):c.6010C>T (p.Leu2004=) rs370927186 0.00006
NM_000435.3(NOTCH3):c.6802G>A (p.Glu2268Lys) rs996150018 0.00006
NM_000435.3(NOTCH3):c.754G>A (p.Val252Met) rs115836330 0.00006
NM_000458.4(HNF1B):c.1339+17G>A rs374854968 0.00006
NM_000458.4(HNF1B):c.36C>T (p.Leu12=) rs749370057 0.00006
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014 0.00006
NM_000497.4(CYP11B1):c.799+5G>C rs193922542 0.00006
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn) rs375009082 0.00006
NM_000545.8(HNF1A):c.871C>T (p.Pro291Ser) rs151256267 0.00006
NM_001005361.3(DNM2):c.2201A>G (p.Asn734Ser) rs577767034 0.00006
NM_001009944.3(PKD1):c.8305C>T (p.Leu2769Phe) rs771382752 0.00006
NM_001032221.6(STXBP1):c.1320C>T (p.Ile440=) rs370249358 0.00006
NM_001032221.6(STXBP1):c.888C>T (p.Ile296=) rs201302013 0.00006
NM_001037.5(SCN1B):c.448+8G>C rs200222933 0.00006
NM_001040142.2(SCN2A):c.1959G>A (p.Val653=) rs200546427 0.00006
NM_001127222.2(CACNA1A):c.2501A>C (p.Asn834Thr) rs201666606 0.00006
NM_001127222.2(CACNA1A):c.3226G>A (p.Ala1076Thr) rs554091859 0.00006
NM_001127222.2(CACNA1A):c.6190-3C>A rs368480650 0.00006
NM_001130438.3(SPTAN1):c.2888C>T (p.Thr963Met) rs375623472 0.00006
NM_001134407.3(GRIN2A):c.306C>T (p.Asp102=) rs200850130 0.00006
NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His) rs368834365 0.00006
NM_001244008.2(KIF1A):c.2088C>T (p.Asn696=) rs758111969 0.00006
NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln) rs376658420 0.00006
NM_001267550.2(TTN):c.101890C>A (p.Arg33964Ser) rs779064623 0.00006
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln) rs149391616 0.00006
NM_001267550.2(TTN):c.104125C>T (p.Arg34709Cys) rs530959653 0.00006
NM_001267550.2(TTN):c.106468T>C (p.Tyr35490His) rs199663911 0.00006
NM_001267550.2(TTN):c.12821G>A (p.Ser4274Asn) rs200348414 0.00006
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=) rs202102237 0.00006
NM_001267550.2(TTN):c.22241-5T>C rs397517501 0.00006
NM_001267550.2(TTN):c.44456C>T (p.Thr14819Ile) rs778014249 0.00006
NM_001267550.2(TTN):c.49406T>A (p.Leu16469His) rs72677245 0.00006
NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val) rs373305248 0.00006
NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe) rs368025965 0.00006
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=) rs767152563 0.00006
NM_001267550.2(TTN):c.61696G>A (p.Val20566Ile) rs764777213 0.00006
NM_001267550.2(TTN):c.62149A>G (p.Arg20717Gly) rs75458912 0.00006
NM_001267550.2(TTN):c.70305G>A (p.Thr23435=) rs397517684 0.00006
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) rs369707906 0.00006
NM_001267550.2(TTN):c.83081G>A (p.Arg27694His) rs775499341 0.00006
NM_001267550.2(TTN):c.83272T>C (p.Phe27758Leu) rs188323108 0.00006
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu) rs190721759 0.00006
NM_001267550.2(TTN):c.85316G>A (p.Arg28439Gln) rs764437671 0.00006
NM_001267550.2(TTN):c.93131G>T (p.Gly31044Val) rs570464905 0.00006
NM_001378452.1(ITPR1):c.7068C>T (p.Val2356=) rs780138157 0.00006
NM_001378452.1(ITPR1):c.7719T>A (p.Ala2573=) rs375507523 0.00006
NM_001378452.1(ITPR1):c.8010C>T (p.Tyr2670=) rs372433483 0.00006
NM_001458.5(FLNC):c.6114C>T (p.Ile2038=) rs559639511 0.00006
NM_001848.3(COL6A1):c.717+4A>G rs762867111 0.00006
NM_001909.5(CTSD):c.111G>A (p.Ser37=) rs535140505 0.00006
NM_001961.4(EEF2):c.153C>T (p.Ala51=) rs373815379 0.00006
NM_001961.4(EEF2):c.15G>A (p.Thr5=) rs192703161 0.00006
NM_001961.4(EEF2):c.522C>T (p.Leu174=) rs555068664 0.00006
NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys) rs181251337 0.00006
NM_002641.4(PIGA):c.61A>G (p.Ser21Gly) rs375401655 0.00006
NM_002693.3(POLG):c.154C>A (p.Gln52Lys) rs376683989 0.00006
NM_002693.3(POLG):c.1950-9T>C rs780378329 0.00006
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
NM_002693.3(POLG):c.3216C>G (p.Thr1072=) rs146936870 0.00006
NM_003384.3(VRK1):c.576+8T>C rs368495945 0.00006
NM_003611.3(OFD1):c.1634A>G (p.Gln545Arg) rs373792491 0.00006
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00006
NM_004519.4(KCNQ3):c.2491C>T (p.Arg831Trp) rs185628977 0.00006
NM_004977.3(KCNC3):c.1752G>A (p.Pro584=) rs1001882554 0.00006
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254 0.00006
NM_005591.4(MRE11):c.81G>A (p.Glu27=) rs190031653 0.00006
NM_005660.3(SLC35A2):c.1039G>A (p.Ala347Thr) rs781948153 0.00006
NM_006516.4(SLC2A1):c.1005C>G (p.Thr335=) rs763664146 0.00006
NM_006516.4(SLC2A1):c.19-5C>T rs376653618 0.00006
NM_006796.3(AFG3L2):c.1479G>A (p.Pro493=) rs761143170 0.00006
NM_006941.4(SOX10):c.274G>C (p.Val92Leu) rs142113652 0.00006
NM_006946.4(SPTBN2):c.1336C>T (p.Arg446Cys) rs147422843 0.00006
NM_006946.4(SPTBN2):c.1457C>A (p.Ala486Asp) rs763948508 0.00006
NM_006946.4(SPTBN2):c.3059G>A (p.Arg1020Gln) rs758312194 0.00006
NM_006946.4(SPTBN2):c.3693C>T (p.Leu1231=) rs768135548 0.00006
NM_006946.4(SPTBN2):c.6528T>C (p.Asn2176=) rs371535973 0.00006
NM_006946.4(SPTBN2):c.6702C>T (p.Phe2234=) rs773474294 0.00006
NM_007325.5(GRIA3):c.1440T>C (p.Tyr480=) rs756780145 0.00006
NM_013444.4(UBQLN2):c.1420C>G (p.Pro474Ala) rs761503297 0.00006
NM_014053.4(FLVCR1):c.1022A>G (p.Tyr341Cys) rs200151282 0.00006
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr) rs200707453 0.00006
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser) rs146395198 0.00006
NM_014363.6(SACS):c.2551G>T (p.Val851Phe) rs756890722 0.00006
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys) rs143557803 0.00006
NM_014795.4(ZEB2):c.1221C>T (p.His407=) rs144613207 0.00006
NM_015295.3(SMCHD1):c.4108C>T (p.Arg1370Cys) rs942559171 0.00006
NM_016239.4(MYO15A):c.4561G>C (p.Glu1521Gln) rs769189017 0.00006
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191 0.00006
NM_018109.4(MTPAP):c.345C>T (p.Val115=) rs548128535 0.00006
NM_020247.5(COQ8A):c.1081-6C>T rs774626751 0.00006
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) rs121908185 0.00006
NM_020822.3(KCNT1):c.1626A>G (p.Gly542=) rs537431085 0.00006
NM_021098.3(CACNA1H):c.4737G>A (p.Arg1579=) rs201270662 0.00006
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) rs370814108 0.00006
NM_032737.4(LMNB2):c.288C>T (p.Tyr96=) rs201605408 0.00006
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00006
NM_033629.6(TREX1):c.219G>A (p.Pro73=) rs778992418 0.00006
NM_152296.5(ATP1A3):c.2886C>T (p.Pro962=) rs141412861 0.00006
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) rs267607606 0.00006
NM_170707.4(LMNA):c.937-7C>G rs267607681 0.00006
NM_173500.4(TTBK2):c.441C>T (p.Phe147=) rs754428166 0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly) rs543697946 0.00006
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter) rs104894707 0.00006
NM_182961.4(SYNE1):c.12667C>T (p.Arg4223Cys) rs145738035 0.00006
NM_182961.4(SYNE1):c.14727G>A (p.Gly4909=) rs767294195 0.00006
NM_182961.4(SYNE1):c.20027G>A (p.Arg6676Gln) rs190673256 0.00006
NM_182961.4(SYNE1):c.3436C>G (p.Gln1146Glu) rs760256766 0.00006
NM_198994.3(TGM6):c.1303G>A (p.Val435Met) rs769042038 0.00006
NM_201384.3(PLEC):c.21C>T (p.Arg7=) rs550636795 0.00006
NM_201384.3(PLEC):c.2643G>A (p.Thr881=) rs369973592 0.00006
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu) rs587782397 0.00005
NM_000051.4(ATM):c.2919A>G (p.Leu973=) rs587779829 0.00005
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00005
NM_000069.3(CACNA1S):c.2439C>T (p.Ser813=) rs376863448 0.00005
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556 0.00005
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478 0.00005
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg) rs539765620 0.00005
NM_000219.6(KCNE1):c.24G>A (p.Ala8=) rs144094344 0.00005
NM_000266.4(NDP):c.*3C>A rs372300274 0.00005
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245 0.00005
NM_000334.4(SCN4A):c.1710C>T (p.Ile570=) rs760067411 0.00005
NM_000334.4(SCN4A):c.2419G>A (p.Ala807Thr) rs770694096 0.00005
NM_000335.5(SCN5A):c.1577G>A (p.Arg526His) rs45627438 0.00005
NM_000335.5(SCN5A):c.3243G>A (p.Val1081=) rs41312407 0.00005
NM_000370.3(TTPA):c.355A>G (p.Ile119Val) rs766200402 0.00005
NM_000388.4(CASR):c.165G>A (p.Pro55=) rs200018529 0.00005
NM_000426.4(LAMA2):c.1586G>A (p.Ser529Asn) rs370691060 0.00005
NM_000435.3(NOTCH3):c.1567G>A (p.Val523Met) rs564452430 0.00005
NM_000435.3(NOTCH3):c.1973T>C (p.Ile658Thr) rs779379912 0.00005
NM_000435.3(NOTCH3):c.2282C>T (p.Pro761Leu) rs150866973 0.00005
NM_000435.3(NOTCH3):c.351C>T (p.Cys117=) rs200881673 0.00005
NM_000435.3(NOTCH3):c.432C>T (p.Cys144=) rs748339634 0.00005
NM_000435.3(NOTCH3):c.472G>A (p.Asp158Asn) rs544773641 0.00005
NM_000435.3(NOTCH3):c.5704C>T (p.Arg1902Cys) rs576516079 0.00005
NM_000435.3(NOTCH3):c.591C>T (p.Pro197=) rs367943979 0.00005
NM_000435.3(NOTCH3):c.963C>T (p.Ala321=) rs538938551 0.00005
NM_000458.4(HNF1B):c.1654-4G>A rs193922485 0.00005
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp) rs536638039 0.00005
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679 0.00005
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00005
NM_000545.8(HNF1A):c.1405C>T (p.His469Tyr) rs201811844 0.00005
NM_000548.5(TSC2):c.2639+10C>T rs137854378 0.00005
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys) rs190012697 0.00005
NM_000891.3(KCNJ2):c.1222C>G (p.Leu408Val) rs753757610 0.00005
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser) rs370789267 0.00005
NM_001099922.3(ALG13):c.1304A>G (p.Asn435Ser) rs747478031 0.00005
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) rs398123617 0.00005
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) rs34803727 0.00005
NM_001127222.2(CACNA1A):c.3649A>G (p.Met1217Val) rs372017604 0.00005
NM_001127222.2(CACNA1A):c.5268T>C (p.Ala1756=) rs373678557 0.00005
NM_001127222.2(CACNA1A):c.5986A>G (p.Thr1996Ala) rs141963371 0.00005
NM_001130987.2(DYSF):c.5547-4C>T rs373098428 0.00005
NM_001165963.4(SCN1A):c.3060C>A (p.His1020Gln) rs150154265 0.00005
NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser) rs151264767 0.00005
NM_001267550.2(TTN):c.10654G>C (p.Ala3552Pro) rs774004409 0.00005
NM_001267550.2(TTN):c.22922C>T (p.Ser7641Leu) rs369508943 0.00005
NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn) rs766935265 0.00005
NM_001267550.2(TTN):c.47196G>C (p.Val15732=) rs369979598 0.00005
NM_001267550.2(TTN):c.48670T>C (p.Trp16224Arg) rs148549746 0.00005
NM_001267550.2(TTN):c.49801G>T (p.Val16601Leu) rs773271774 0.00005
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr) rs377000174 0.00005
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr) rs527704660 0.00005
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn) rs727503577 0.00005
NM_001267550.2(TTN):c.80720C>A (p.Pro26907Gln) rs375693686 0.00005
NM_001267550.2(TTN):c.89760A>C (p.Glu29920Asp) rs747181293 0.00005
NM_001267550.2(TTN):c.9443G>A (p.Arg3148His) rs368786036 0.00005
NM_001267550.2(TTN):c.95406A>G (p.Arg31802=) rs199652273 0.00005
NM_001267550.2(TTN):c.97472T>C (p.Ile32491Thr) rs781572378 0.00005
NM_001267550.2(TTN):c.9908C>T (p.Pro3303Leu) rs201379132 0.00005
NM_001278064.2(GRM1):c.3381G>A (p.Glu1127=) rs77895673 0.00005
NM_001347721.2(DYRK1A):c.1762G>A (p.Ala588Thr) rs200808105 0.00005
NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=) rs200375220 0.00005
NM_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile) rs372740994 0.00005
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr) rs767787371 0.00005
NM_001378452.1(ITPR1):c.3175C>T (p.Pro1059Ser) rs771272478 0.00005
NM_001378452.1(ITPR1):c.4068C>T (p.Asn1356=) rs542486327 0.00005
NM_001378452.1(ITPR1):c.5441A>G (p.Asn1814Ser) rs200927261 0.00005
NM_001378452.1(ITPR1):c.5691T>C (p.Asp1897=) rs371661663 0.00005
NM_001378452.1(ITPR1):c.7197G>A (p.Glu2399=) rs538209212 0.00005
NM_001378452.1(ITPR1):c.7659C>T (p.Ser2553=) rs200562410 0.00005
NM_001378969.1(KCND3):c.1308C>G (p.Gly436=) rs190703406 0.00005
NM_001378969.1(KCND3):c.1769G>A (p.Arg590His) rs186194682 0.00005
NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg) rs149344567 0.00005
NM_001851.6(COL9A1):c.1120G>T (p.Glu374Ter) rs374843706 0.00005
NM_001961.4(EEF2):c.1989C>T (p.Thr663=) rs745451916 0.00005
NM_001961.4(EEF2):c.282C>T (p.Asp94=) rs527597574 0.00005
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile) rs369894731 0.00005
NM_002156.5(HSPD1):c.175-7C>T rs374694909 0.00005
NM_002693.3(POLG):c.1850G>A (p.Arg617His) rs779961986 0.00005
NM_002693.3(POLG):c.3104+1G>A rs138917386 0.00005
NM_002693.3(POLG):c.3450C>T (p.Ala1150=) rs774880085 0.00005
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn) rs769602042 0.00005
NM_003919.3(SGCE):c.21G>A (p.Trp7Ter) rs201378067 0.00005
NM_004006.3(DMD):c.1503A>G (p.Glu501=) rs770464589 0.00005
NM_004006.3(DMD):c.7397T>C (p.Met2466Thr) rs764330616 0.00005
NM_004006.3(DMD):c.8322G>A (p.Leu2774=) rs72466575 0.00005
NM_004463.3(FGD1):c.2619C>T (p.Phe873=) rs375328916 0.00005
NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser) rs118192252 0.00005
NM_004960.4(FUS):c.1248C>T (p.Gly416=) rs368780804 0.00005
NM_004977.3(KCNC3):c.1257C>T (p.Val419=) rs201002118 0.00005
NM_004977.3(KCNC3):c.1557C>T (p.Val519=) rs200349179 0.00005
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00005
NM_005271.5(GLUD1):c.585T>C (p.Asp195=) rs756647962 0.00005
NM_005529.7(HSPG2):c.2847G>A (p.Glu949=) rs773662857 0.00005
NM_005529.7(HSPG2):c.5075G>T (p.Gly1692Val) rs777795072 0.00005
NM_005529.7(HSPG2):c.6134-4C>T rs768569958 0.00005
NM_005912.3(MC4R):c.913C>T (p.Arg305Trp) rs549442687 0.00005
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val) rs769943554 0.00005
NM_006516.4(SLC2A1):c.276-8G>A rs373084446 0.00005
NM_006796.3(AFG3L2):c.2035C>T (p.Arg679Cys) rs551015841 0.00005
NM_006946.4(SPTBN2):c.1522A>C (p.Asn508His) rs767775507 0.00005
NM_006946.4(SPTBN2):c.2647C>T (p.Arg883Cys) rs761263852 0.00005
NM_006946.4(SPTBN2):c.2729C>T (p.Ala910Val) rs532746761 0.00005
NM_006946.4(SPTBN2):c.5593C>T (p.Arg1865Trp) rs755595060 0.00005
NM_006946.4(SPTBN2):c.5736C>G (p.Phe1912Leu) rs202247290 0.00005
NM_006946.4(SPTBN2):c.6266G>A (p.Arg2089Lys) rs569905004 0.00005
NM_006946.4(SPTBN2):c.6280C>T (p.Arg2094Trp) rs368782432 0.00005
NM_007375.4(TARDBP):c.87C>T (p.Ser29=) rs201693535 0.00005
NM_012210.4(TRIM32):c.693A>C (p.Ala231=) rs368455215 0.00005
NM_013444.4(UBQLN2):c.579C>T (p.Ser193=) rs768910794 0.00005
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val) rs375961779 0.00005
NM_014363.6(SACS):c.13316A>G (p.Lys4439Arg) rs765556647 0.00005
NM_014363.6(SACS):c.2180C>G (p.Thr727Ser) rs61760905 0.00005
NM_014363.6(SACS):c.3915T>C (p.His1305=) rs767598017 0.00005
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val) rs138245586 0.00005
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys) rs754033201 0.00005
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu) rs755723511 0.00005
NM_014795.4(ZEB2):c.2855G>C (p.Arg952Thr) rs151256895 0.00005
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060 0.00005
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu) rs140781535 0.00005
NM_017837.4(PIGV):c.115G>A (p.Glu39Lys) rs369275802 0.00005
NM_018075.5(ANO10):c.45C>T (p.Phe15=) rs1049122968 0.00005
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00005
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) rs374545987 0.00005
NM_024915.4(GRHL2):c.981G>A (p.Ala327=) rs368774126 0.00005
NM_032119.4(ADGRV1):c.16325G>A (p.Gly5442Asp) rs376505416 0.00005
NM_032119.4(ADGRV1):c.4786G>A (p.Val1596Ile) rs371179945 0.00005
NM_130837.3(OPA1):c.2331+10T>C rs371096629 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala) rs201296399 0.00005
NM_173500.4(TTBK2):c.1274G>A (p.Arg425His) rs370495535 0.00005
NM_173500.4(TTBK2):c.2299G>A (p.Val767Met) rs752400040 0.00005
NM_175875.5(SIX5):c.1687C>T (p.Leu563Phe) rs781343581 0.00005
NM_175914.5(HNF4A):c.*4G>A rs193922468 0.00005
NM_182961.4(SYNE1):c.11089A>G (p.Ile3697Val) rs368828206 0.00005
NM_182961.4(SYNE1):c.11702G>C (p.Ser3901Thr) rs376327805 0.00005
NM_182961.4(SYNE1):c.20069C>T (p.Thr6690Met) rs143674856 0.00005
NM_201384.3(PLEC):c.10207C>T (p.Arg3403Trp) rs542488020 0.00005
NM_201384.3(PLEC):c.9023G>A (p.Arg3008Gln) rs200176579 0.00005
NM_213599.3(ANO5):c.1924C>G (p.Arg642Gly) rs146341538 0.00005
NM_000051.4(ATM):c.3154-5C>T rs55719759 0.00004
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr) rs587781365 0.00004
NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys) rs532351874 0.00004
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe) rs200848930 0.00004
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879 0.00004
NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg) rs768407867 0.00004
NM_000083.3(CLCN1):c.2551G>A (p.Val851Met) rs749205522 0.00004
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile) rs762344462 0.00004
NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys) rs121909133 0.00004
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His) rs781491172 0.00004
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser) rs184730597 0.00004
NM_000091.5(COL4A3):c.4819G>T (p.Glu1607Ter) rs764046610 0.00004
NM_000092.5(COL4A4):c.3743G>A (p.Gly1248Glu) rs548799639 0.00004
NM_000162.5(GCK):c.1068G>T (p.Gly356=) rs369103069 0.00004
NM_000162.5(GCK):c.363+6C>A rs751756042 0.00004
NM_000162.5(GCK):c.834C>T (p.Asp278=) rs200071687 0.00004
NM_000238.4(KCNH2):c.3153-4C>T rs181119727 0.00004
NM_000334.4(SCN4A):c.204C>T (p.Tyr68=) rs80266947 0.00004
NM_000334.4(SCN4A):c.903C>T (p.Tyr301=) rs201411232 0.00004
NM_000335.5(SCN5A):c.954C>T (p.Asn318=) rs372623225 0.00004
NM_000352.6(ABCC8):c.1924-10C>T rs200823913 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) rs121918085 0.00004
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143 0.00004
NM_000426.4(LAMA2):c.4983C>T (p.Gly1661=) rs772192888 0.00004
NM_000426.4(LAMA2):c.6539A>T (p.Asp2180Val) rs567385461 0.00004
NM_000435.3(NOTCH3):c.1678G>A (p.Val560Met) rs200160665 0.00004
NM_000435.3(NOTCH3):c.1918C>T (p.Arg640Cys) rs760768552 0.00004
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys) rs144163298 0.00004
NM_000435.3(NOTCH3):c.3566T>C (p.Phe1189Ser) rs764617561 0.00004
NM_000435.3(NOTCH3):c.4793A>T (p.Asp1598Val) rs201167365 0.00004
NM_000435.3(NOTCH3):c.4875A>C (p.Pro1625=) rs538466132 0.00004
NM_000435.3(NOTCH3):c.488G>A (p.Arg163Gln) rs761209241 0.00004
NM_000435.3(NOTCH3):c.5569C>T (p.Arg1857Trp) rs752169336 0.00004
NM_000435.3(NOTCH3):c.6092G>A (p.Arg2031His) rs779314594 0.00004
NM_000435.3(NOTCH3):c.6267G>A (p.Pro2089=) rs577303432 0.00004
NM_000435.3(NOTCH3):c.6324G>A (p.Pro2108=) rs776858941 0.00004
NM_000435.3(NOTCH3):c.6334G>A (p.Gly2112Ser) rs372833545 0.00004
NM_000435.3(NOTCH3):c.6437C>T (p.Ala2146Val) rs770739669 0.00004
NM_000435.3(NOTCH3):c.825G>A (p.Val275=) rs138837495 0.00004
NM_000500.9(CYP21A2):c.1226G>A (p.Arg409His) rs1351045983 0.00004
NM_000540.3(RYR1):c.13498G>A (p.Glu4500Lys) rs752192756 0.00004
NM_000540.3(RYR1):c.4361C>T (p.Pro1454Leu) rs149737658 0.00004
NM_000545.8(HNF1A):c.1310-12C>T rs193922579 0.00004
NM_000545.8(HNF1A):c.527-18G>A rs375259151 0.00004
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val) rs371074761 0.00004
NM_000722.4(CACNA2D1):c.1141A>G (p.Lys381Glu) rs756707031 0.00004
NM_001009944.3(PKD1):c.10933C>T (p.Arg3645Cys) rs765277688 0.00004
NM_001009944.3(PKD1):c.7100C>T (p.Ser2367Phe) rs771932172 0.00004
NM_001039213.4(CEACAM16):c.703C>T (p.Arg235Cys) rs746164064 0.00004
NM_001099922.3(ALG13):c.2013G>A (p.Pro671=) rs775697727 0.00004
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) rs61751445 0.00004
NM_001113491.2(SEPTIN9):c.1338G>A (p.Ala446=) rs768871202 0.00004
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384 0.00004
NM_001127222.2(CACNA1A):c.3175C>T (p.Pro1059Ser) rs775079932 0.00004
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=) rs373328706 0.00004
NM_001134407.3(GRIN2A):c.3961G>C (p.Glu1321Gln) rs370754278 0.00004
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353 0.00004
NM_001267550.2(TTN):c.13089C>T (p.Pro4363=) rs555324138 0.00004
NM_001267550.2(TTN):c.16056T>C (p.Asp5352=) rs376820575 0.00004
NM_001267550.2(TTN):c.18037T>C (p.Tyr6013His) rs548015673 0.00004
NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys) rs72648948 0.00004
NM_001267550.2(TTN):c.21785C>G (p.Thr7262Ser) rs200954184 0.00004
NM_001267550.2(TTN):c.24107C>T (p.Ser8036Leu) rs200598509 0.00004
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys) rs375266859 0.00004
NM_001267550.2(TTN):c.36776C>T (p.Ala12259Val) rs755562550 0.00004
NM_001267550.2(TTN):c.40557C>T (p.Ser13519=) rs371178429 0.00004
NM_001267550.2(TTN):c.42672G>T (p.Leu14224=) rs368155350 0.00004
NM_001267550.2(TTN):c.5264A>G (p.Asn1755Ser) rs201904897 0.00004
NM_001267550.2(TTN):c.64959G>A (p.Ala21653=) rs776272431 0.00004
NM_001267550.2(TTN):c.67210G>A (p.Val22404Met) rs369257896 0.00004
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186 0.00004
NM_001267550.2(TTN):c.73873T>C (p.Leu24625=) rs545556079 0.00004
NM_001267550.2(TTN):c.93179G>A (p.Arg31060His) rs776018262 0.00004
NM_001267550.2(TTN):c.93724C>T (p.Arg31242Cys) rs563887822 0.00004
NM_001267550.2(TTN):c.94664G>A (p.Arg31555His) rs727503545 0.00004
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser) rs367979582 0.00004
NM_001278116.2(L1CAM):c.1220G>A (p.Arg407His) rs139197516 0.00004
NM_001278116.2(L1CAM):c.367G>A (p.Ala123Thr) rs782752037 0.00004
NM_001378452.1(ITPR1):c.1554+3C>T rs781141738 0.00004
NM_001378452.1(ITPR1):c.2107G>A (p.Asp703Asn) rs185464679 0.00004
NM_001378452.1(ITPR1):c.3494C>T (p.Thr1165Met) rs755486931 0.00004
NM_001378452.1(ITPR1):c.3564+5G>T rs371420259 0.00004
NM_001378452.1(ITPR1):c.6993C>T (p.Ile2331=) rs369778265 0.00004
NM_001378969.1(KCND3):c.1649G>A (p.Arg550His) rs151164490 0.00004
NM_001378969.1(KCND3):c.1696C>T (p.Arg566Cys) rs139901716 0.00004
NM_001458.5(FLNC):c.4140C>T (p.Thr1380=) rs183668401 0.00004
NM_001853.4(COL9A3):c.1538C>T (p.Pro513Leu) rs202094480 0.00004
NM_001961.4(EEF2):c.1150+4C>T rs369925168 0.00004
NM_001961.4(EEF2):c.2136C>T (p.Asp712=) rs775576430 0.00004
NM_002160.4(TNC):c.1477G>A (p.Gly493Arg) rs542499079 0.00004
NM_002693.3(POLG):c.3444C>T (p.Arg1148=) rs374937961 0.00004
NM_002693.3(POLG):c.428C>T (p.Ala143Val) rs796052899 0.00004
NM_003119.4(SPG7):c.2096dup (p.Met699fs) rs747503698 0.00004
NM_003482.4(KMT2D):c.13009C>G (p.Pro4337Ala) rs587778475 0.00004
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter) rs201217593 0.00004
NM_004006.3(DMD):c.832-3C>T rs777492476 0.00004
NM_004463.3(FGD1):c.62A>T (p.Asn21Ile) rs779475596 0.00004
NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr) rs746095110 0.00004
NM_005249.5(FOXG1):c.1273T>C (p.Ser425Pro) rs780242359 0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939 0.00004
NM_005629.4(SLC6A8):c.975A>C (p.Thr325=) rs782517934 0.00004
NM_006796.3(AFG3L2):c.1616C>A (p.Ser539Tyr) rs756205069 0.00004
NM_006796.3(AFG3L2):c.867C>T (p.Phe289=) rs748162809 0.00004
NM_006922.4(SCN3A):c.4236A>G (p.Gln1412=) rs551837418 0.00004
NM_006946.4(SPTBN2):c.1906C>T (p.Arg636Trp) rs773155491 0.00004
NM_006946.4(SPTBN2):c.5060G>A (p.Arg1687Gln) rs763770499 0.00004
NM_006946.4(SPTBN2):c.6283C>T (p.Arg2095Trp) rs761960627 0.00004
NM_006946.4(SPTBN2):c.6929C>T (p.Ala2310Val) rs749226138 0.00004
NM_012301.4(MAGI2):c.948C>T (p.Gly316=) rs75675313 0.00004
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile) rs200591364 0.00004
NM_014363.6(SACS):c.10256G>A (p.Arg3419His) rs536675517 0.00004
NM_014363.6(SACS):c.10983G>A (p.Ala3661=) rs200900703 0.00004
NM_014363.6(SACS):c.11049T>C (p.Asn3683=) rs773770705 0.00004
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser) rs780789569 0.00004
NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn) rs762041995 0.00004
NM_014363.6(SACS):c.12968C>T (p.Ser4323Leu) rs150225486 0.00004
NM_014363.6(SACS):c.134C>T (p.Pro45Leu) rs1033188876 0.00004
NM_014363.6(SACS):c.1387C>A (p.His463Asn) rs149951538 0.00004
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr) rs778572943 0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_014363.6(SACS):c.3283G>A (p.Glu1095Lys) rs200594912 0.00004
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln) rs764992284 0.00004
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg) rs376680832 0.00004
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn) rs769751841 0.00004
NM_014363.6(SACS):c.7147C>T (p.Arg2383Cys) rs772611372 0.00004
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala) rs763504656 0.00004
NM_014625.4(NPHS2):c.851C>T (p.Ala284Val) rs780761368 0.00004
NM_014874.4(MFN2):c.58C>T (p.His20Tyr) rs201715603 0.00004
NM_015046.7(SETX):c.2502A>G (p.Gly834=) rs762818441 0.00004
NM_015046.7(SETX):c.2862G>A (p.Thr954=) rs149610510 0.00004
NM_015046.7(SETX):c.3029G>A (p.Arg1010His) rs370781594 0.00004
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln) rs369542231 0.00004
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr) rs140676924 0.00004
NM_015046.7(SETX):c.839-6T>C rs760584527 0.00004
NM_015474.4(SAMHD1):c.208+8C>T rs543987630 0.00004
NM_015559.3(SETBP1):c.2571C>T (p.Ser857=) rs763175959 0.00004
NM_015559.3(SETBP1):c.2873A>G (p.Glu958Gly) rs748289164 0.00004
NM_015915.5(ATL1):c.311A>G (p.Asn104Ser) rs377736535 0.00004
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869 0.00004
NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr) rs762900727 0.00004
NM_030665.4(RAI1):c.4251A>G (p.Lys1417=) rs556223883 0.00004
NM_030962.4(SBF2):c.129G>A (p.Gln43=) rs761285505 0.00004
NM_033380.3(COL4A5):c.796C>G (p.Arg266Gly) rs104886071 0.00004
NM_138691.3(TMC1):c.1676G>A (p.Trp559Ter) rs876657728 0.00004
NM_152296.5(ATP1A3):c.2419-6G>A rs180749411 0.00004
NM_152564.5(VPS13B):c.4950-9A>G rs373474658 0.00004
NM_152743.4(BRAT1):c.1702G>A (p.Ala568Thr) rs141709461 0.00004
NM_153026.3(PRICKLE1):c.435G>A (p.Ala145=) rs146650383 0.00004
NM_153700.2(STRC):c.4237A>T (p.Thr1413Ser) rs754834213 0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_172107.4(KCNQ2):c.1023+9A>G rs201787699 0.00004
NM_173500.4(TTBK2):c.1936C>G (p.Gln646Glu) rs200773248 0.00004
NM_182914.3(SYNE2):c.2296A>G (p.Met766Val) rs556342048 0.00004
NM_182961.4(SYNE1):c.15451G>A (p.Val5151Met) rs199996504 0.00004
NM_182961.4(SYNE1):c.462C>T (p.Ser154=) rs761939786 0.00004
NM_198994.3(TGM6):c.727G>A (p.Gly243Ser) rs202245813 0.00004
NM_198994.3(TGM6):c.992A>G (p.Asn331Ser) rs138323389 0.00004
NM_198999.3(SLC26A5):c.1828G>A (p.Glu610Lys) rs148538056 0.00004
NM_201384.3(PLEC):c.2580G>A (p.Pro860=) rs782468518 0.00004
NM_201384.3(PLEC):c.5115G>A (p.Ala1705=) rs782757364 0.00004
NM_201384.3(PLEC):c.9918C>T (p.Ser3306=) rs112205689 0.00004
NM_201525.4(ADGRG1):c.1781G>A (p.Arg594His) rs757051705 0.00004
NM_206933.4(USH2A):c.12344G>A (p.Arg4115His) rs775075094 0.00004
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg) rs745539518 0.00004
NM_213599.3(ANO5):c.2521C>G (p.His841Asp) rs781027702 0.00004
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro) rs143962150 0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.3354A>G (p.Thr1118=) rs377316982 0.00003
NM_000051.4(ATM):c.3378A>G (p.Lys1126=) rs149182949 0.00003
NM_000051.4(ATM):c.649A>G (p.Ile217Val) rs547045780 0.00003
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile) rs35203200 0.00003
NM_000051.4(ATM):c.8629T>C (p.Leu2877=) rs730881279 0.00003
NM_000069.3(CACNA1S):c.490C>T (p.Leu164Phe) rs747238231 0.00003
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676 0.00003
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942 0.00003
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703 0.00003
NM_000083.3(CLCN1):c.1167-10T>C rs543120965 0.00003
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953 0.00003
NM_000083.3(CLCN1):c.2596-1G>A rs771721648 0.00003
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val) rs150796358 0.00003
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser) rs765181341 0.00003
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084 0.00003
NM_000144.5(FXN):c.389G>T (p.Gly130Val) rs104894107 0.00003
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) rs409652 0.00003
NM_000162.5(GCK):c.106C>T (p.Arg36Trp) rs762263694 0.00003
NM_000166.6(GJB1):c.297A>G (p.Gln99=) rs1213746899 0.00003
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu) rs780335726 0.00003
NM_000166.6(GJB1):c.78G>A (p.Ser26=) rs749174507 0.00003
NM_000166.6(GJB1):c.830G>A (p.Ser277Asn) rs748095080 0.00003
NM_000334.4(SCN4A):c.1947C>T (p.Ile649=) rs564134251 0.00003
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_000338.3(SLC12A1):c.1522G>A (p.Ala508Thr) rs765347751 0.00003
NM_000352.6(ABCC8):c.3558-7G>A rs900191703 0.00003
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His) rs769279368 0.00003
NM_000368.5(TSC1):c.2065C>T (p.Arg689Cys) rs202241429 0.00003
NM_000370.3(TTPA):c.338A>G (p.Lys113Arg) rs200547556 0.00003
NM_000370.3(TTPA):c.558A>G (p.Ser186=) rs774283073 0.00003
NM_000435.3(NOTCH3):c.1729A>G (p.Thr577Ala) rs368181126 0.00003
NM_000435.3(NOTCH3):c.1749G>A (p.Val583=) rs373985781 0.00003
NM_000435.3(NOTCH3):c.1873G>A (p.Ala625Thr) rs747633377 0.00003
NM_000435.3(NOTCH3):c.204G>A (p.Pro68=) rs772468516 0.00003
NM_000435.3(NOTCH3):c.223C>T (p.Arg75Trp) rs762164861 0.00003
NM_000435.3(NOTCH3):c.3352A>T (p.Asn1118Tyr) rs376950447 0.00003
NM_000435.3(NOTCH3):c.3427C>T (p.Arg1143Cys) rs60373464 0.00003
NM_000435.3(NOTCH3):c.4914A>G (p.Glu1638=) rs149222385 0.00003
NM_000435.3(NOTCH3):c.5646C>T (p.Ala1882=) rs758307531 0.00003
NM_000435.3(NOTCH3):c.815C>T (p.Thr272Met) rs749561286 0.00003
NM_000447.3(PSEN2):c.415G>A (p.Val139Met) rs202178897 0.00003
NM_000481.4(AMT):c.887G>A (p.Arg296His) rs386833690 0.00003
NM_000500.9(CYP21A2):c.293-7C>G rs193922544 0.00003
NM_000540.3(RYR1):c.614G>C (p.Cys205Ser) rs201834803 0.00003
NM_000545.8(HNF1A):c.1800C>T (p.Ser600=) rs756416683 0.00003
NM_000548.5(TSC2):c.2153G>C (p.Arg718Pro) rs45517215 0.00003
NM_000548.5(TSC2):c.3969G>A (p.Ala1323=) rs749057825 0.00003
NM_000548.5(TSC2):c.5266G>A (p.Glu1756Lys) rs375075952 0.00003
NM_000744.7(CHRNA4):c.858C>T (p.Thr286=) rs121912257 0.00003
NM_000814.6(GABRB3):c.1265C>T (p.Pro422Leu) rs369631109 0.00003
NM_000834.5(GRIN2B):c.4105G>A (p.Gly1369Ser) rs371190262 0.00003
NM_001005361.3(DNM2):c.1837G>A (p.Val613Met) rs748286191 0.00003
NM_001008537.3(NEXMIF):c.2544C>T (p.Thr848=) rs139924662 0.00003
NM_001009944.3(PKD1):c.5173G>A (p.Ala1725Thr) rs779607937 0.00003
NM_001029896.2(WDR45):c.524C>T (p.Ala175Val) rs192312429 0.00003
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001048166.1(STIL):c.892A>G (p.Asn298Asp) rs770213403 0.00003
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725 0.00003
NM_001101426.4(CRPPA):c.933+3A>G rs377582530 0.00003
NM_001110556.2(FLNA):c.1542G>C (p.Glu514Asp) rs782765195 0.00003
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val) rs140551719 0.00003
NM_001127222.2(CACNA1A):c.3228G>A (p.Ala1076=) rs373678395 0.00003
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) rs563345694 0.00003
NM_001130438.3(SPTAN1):c.7419G>A (p.Ser2473=) rs375649697 0.00003
NM_001267550.2(TTN):c.107591T>C (p.Val35864Ala) rs374859388 0.00003
NM_001267550.2(TTN):c.20874G>A (p.Thr6958=) rs765956215 0.00003
NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys) rs549604128 0.00003
NM_001267550.2(TTN):c.2998C>T (p.Leu1000Phe) rs140953779 0.00003
NM_001267550.2(TTN):c.4463C>T (p.Thr1488Met) rs111282958 0.00003
NM_001267550.2(TTN):c.46564G>C (p.Gly15522Arg) rs750435043 0.00003
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met) rs368057764 0.00003
NM_001267550.2(TTN):c.50077G>A (p.Val16693Ile) rs377141765 0.00003
NM_001267550.2(TTN):c.53881+4C>T rs187632918 0.00003
NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val) rs373815064 0.00003
NM_001267550.2(TTN):c.74546G>A (p.Arg24849Gln) rs745488276 0.00003
NM_001267550.2(TTN):c.91343G>A (p.Arg30448His) rs374474227 0.00003
NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr) rs375657115 0.00003
NM_001278064.2(GRM1):c.2026G>A (p.Val676Met) rs752403373 0.00003
NM_001371279.1(REEP1):c.408T>A (p.Ala136=) rs368965566 0.00003
NM_001376.5(DYNC1H1):c.13651G>A (p.Ala4551Thr) rs145366078 0.00003
NM_001376.5(DYNC1H1):c.5970C>T (p.Tyr1990=) rs751526144 0.00003
NM_001378452.1(ITPR1):c.1497C>T (p.Phe499=) rs778521012 0.00003
NM_001378452.1(ITPR1):c.2733G>A (p.Ala911=) rs562572079 0.00003
NM_001378452.1(ITPR1):c.5354-10A>G rs535524341 0.00003
NM_001378452.1(ITPR1):c.5386G>A (p.Gly1796Ser) rs760608076 0.00003
NM_001378452.1(ITPR1):c.7562-10G>A rs371836569 0.00003
NM_001378452.1(ITPR1):c.7854G>A (p.Thr2618=) rs777975463 0.00003
NM_001378969.1(KCND3):c.1314G>A (p.Ser438=) rs1247179970 0.00003
NM_001379200.1(TBX1):c.1244G>A (p.Gly415Asp) rs756543718 0.00003
NM_001379500.1(COL18A1):c.2684-9C>T rs1002126692 0.00003
NM_001458.5(FLNC):c.4425G>A (p.Ala1475=) rs371971762 0.00003
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu) rs200786329 0.00003
NM_001961.4(EEF2):c.1176C>T (p.Gly392=) rs147518416 0.00003
NM_001961.4(EEF2):c.1647C>T (p.Ala549=) rs758294276 0.00003
NM_002047.4(GARS1):c.144C>T (p.Ala48=) rs754360926 0.00003
NM_002047.4(GARS1):c.882-4A>G rs778219649 0.00003
NM_002087.4(GRN):c.421G>A (p.Val141Ile) rs63749853 0.00003
NM_002693.3(POLG):c.1780C>T (p.Leu594=) rs778172428 0.00003
NM_002693.3(POLG):c.3519G>A (p.Leu1173=) rs953889846 0.00003
NM_002739.5(PRKCG):c.1871G>A (p.Arg624Gln) rs146367309 0.00003
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_003119.4(SPG7):c.2246C>T (p.Pro749Leu) rs753956374 0.00003
NM_003482.4(KMT2D):c.10206G>C (p.Leu3402=) rs776321392 0.00003
NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp) rs376054085 0.00003
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro) rs587783644 0.00003
NM_004004.6(GJB2):c.2T>C (p.Met1Thr) rs371086981 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004006.3(DMD):c.2293-8T>C rs377050013 0.00003
NM_004082.5(DCTN1):c.442C>T (p.Arg148Trp) rs148810193 0.00003
NM_004621.6(TRPC6):c.1294-4G>A rs190191809 0.00003
NM_004817.4(TJP2):c.3405G>A (p.Thr1135=) rs771190188 0.00003
NM_004977.3(KCNC3):c.1017C>T (p.Asn339=) rs371799397 0.00003
NM_005249.5(FOXG1):c.1278G>A (p.Met426Ile) rs747138265 0.00003
NM_005445.4(SMC3):c.2982C>T (p.Ser994=) rs201308737 0.00003
NM_005477.3(HCN4):c.3582A>G (p.Pro1194=) rs375637572 0.00003
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala) rs375215281 0.00003
NM_006790.3(MYOT):c.1398T>G (p.Leu466=) rs150033934 0.00003
NM_006796.3(AFG3L2):c.841A>G (p.Thr281Ala) rs200759046 0.00003
NM_006946.4(SPTBN2):c.1160G>A (p.Arg387His) rs772590586 0.00003
NM_006946.4(SPTBN2):c.2817-8G>T rs142540439 0.00003
NM_006946.4(SPTBN2):c.3248G>A (p.Arg1083His) rs367949397 0.00003
NM_006946.4(SPTBN2):c.5826G>A (p.Ala1942=) rs373276784 0.00003
NM_006946.4(SPTBN2):c.6131C>T (p.Thr2044Met) rs199759434 0.00003
NM_006946.4(SPTBN2):c.6591C>T (p.Ser2197=) rs778388054 0.00003
NM_006946.4(SPTBN2):c.6752G>A (p.Arg2251Gln) rs763398880 0.00003
NM_014053.4(FLVCR1):c.1365C>T (p.Tyr455=) rs779980010 0.00003
NM_014053.4(FLVCR1):c.346C>T (p.Leu116=) rs150645228 0.00003
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884 0.00003
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser) rs375898103 0.00003
NM_014363.6(SACS):c.10255C>T (p.Arg3419Cys) rs765758197 0.00003
NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe) rs755172172 0.00003
NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly) rs1170997950 0.00003
NM_014363.6(SACS):c.11776G>A (p.Asp3926Asn) rs756252903 0.00003
NM_014363.6(SACS):c.12818T>G (p.Leu4273Arg) rs777946704 0.00003
NM_014363.6(SACS):c.1543C>T (p.Arg515Cys) rs752833893 0.00003
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro) rs200437752 0.00003
NM_014363.6(SACS):c.2853C>A (p.His951Gln) rs200644511 0.00003
NM_014363.6(SACS):c.394T>G (p.Leu132Val) rs553107347 0.00003
NM_014363.6(SACS):c.416G>A (p.Gly139Glu) rs759987183 0.00003
NM_014363.6(SACS):c.8192G>A (p.Arg2731His) rs201127191 0.00003
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val) rs760976439 0.00003
NM_014363.6(SACS):c.9245G>A (p.Cys3082Tyr) rs761695127 0.00003
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs) rs776470487 0.00003
NM_018075.5(ANO10):c.1137T>C (p.Tyr379=) rs1451311121 0.00003
NM_018075.5(ANO10):c.1710C>T (p.Asn570=) rs142862162 0.00003
NM_018075.5(ANO10):c.512T>C (p.Phe171Ser) rs373386030 0.00003
NM_020247.5(COQ8A):c.771G>A (p.Glu257=) rs371867831 0.00003
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) rs201908721 0.00003
NM_020822.3(KCNT1):c.285C>T (p.Asn95=) rs558966732 0.00003
NM_021830.5(TWNK):c.1802G>A (p.Arg601Gln) rs141315771 0.00003
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926 0.00003
NM_024577.4(SH3TC2):c.3150G>A (p.Ala1050=) rs768044718 0.00003
NM_032119.4(ADGRV1):c.13765G>A (p.Val4589Met) rs375258567 0.00003
NM_032119.4(ADGRV1):c.17108G>A (p.Arg5703His) rs201073459 0.00003
NM_130837.3(OPA1):c.1036-8G>T rs367618769 0.00003
NM_130839.5(UBE3A):c.582A>G (p.Ala194=) rs764101035 0.00003
NM_145239.3(PRRT2):c.755C>G (p.Ala252Gly) rs1053144630 0.00003
NM_173500.4(TTBK2):c.1973C>T (p.Ala658Val) rs776776204 0.00003
NM_173500.4(TTBK2):c.3418C>T (p.Pro1140Ser) rs576737530 0.00003
NM_175914.5(HNF4A):c.1017C>T (p.Phe339=) rs142268325 0.00003
NM_175914.5(HNF4A):c.86C>A (p.Pro29His) rs763529905 0.00003
NM_182914.3(SYNE2):c.17141G>A (p.Arg5714His) rs200137127 0.00003
NM_182961.4(SYNE1):c.11247G>A (p.Thr3749=) rs138882800 0.00003
NM_182961.4(SYNE1):c.12573C>T (p.Thr4191=) rs143851739 0.00003
NM_182961.4(SYNE1):c.13209G>A (p.Ser4403=) rs773593843 0.00003
NM_182961.4(SYNE1):c.18930G>T (p.Gln6310His) rs759556319 0.00003
NM_182961.4(SYNE1):c.18972+4T>C rs774096623 0.00003
NM_182961.4(SYNE1):c.22035T>G (p.Thr7345=) rs750669148 0.00003
NM_198859.4(PRICKLE2):c.1048C>T (p.Pro350Ser) rs771168722 0.00003
NM_198994.3(TGM6):c.1089T>C (p.Ser363=) rs762242728 0.00003
NM_198994.3(TGM6):c.1302C>T (p.Arg434=) rs749578418 0.00003
NM_201384.3(PLEC):c.13575G>A (p.Ser4525=) rs549882307 0.00003
NM_201384.3(PLEC):c.2550C>G (p.Ala850=) rs376777606 0.00003
NM_201384.3(PLEC):c.3501C>T (p.His1167=) rs782038506 0.00003
NM_201384.3(PLEC):c.7097G>A (p.Arg2366Gln) rs576252504 0.00003
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys) rs758647756 0.00002
NM_000023.4(SGCA):c.242G>A (p.Arg81His) rs747984529 0.00002
NM_000051.4(ATM):c.3219A>G (p.Val1073=) rs752849892 0.00002
NM_000051.4(ATM):c.4201T>A (p.Leu1401Ile) rs587779838 0.00002
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val) rs375131360 0.00002
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile) rs538452060 0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985 0.00002
NM_000051.4(ATM):c.7358G>A (p.Arg2453His) rs587781361 0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292 0.00002
NM_000069.3(CACNA1S):c.3189C>T (p.Phe1063=) rs150020550 0.00002
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544 0.00002
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro) rs758795961 0.00002
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687 0.00002
NM_000083.3(CLCN1):c.979G>A (p.Val327Ile) rs774396430 0.00002
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu) rs1026613471 0.00002
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800 0.00002
NM_000162.5(GCK):c.435C>G (p.Pro145=) rs773281783 0.00002
NM_000166.6(GJB1):c.-27C>T rs879254157 0.00002
NM_000166.6(GJB1):c.699G>A (p.Ser233=) rs769112084 0.00002
NM_000260.4(MYO7A):c.3503+10G>A rs782049232 0.00002
NM_000260.4(MYO7A):c.5327-10C>T rs781062618 0.00002
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr) rs377176361 0.00002
NM_000334.4(SCN4A):c.4434G>A (p.Ser1478=) rs753725579 0.00002
NM_000334.4(SCN4A):c.969G>A (p.Thr323=) rs1429424012 0.00002
NM_000368.5(TSC1):c.126A>C (p.Val42=) rs118203335 0.00002
NM_000368.5(TSC1):c.340C>T (p.Pro114Ser) rs779395169 0.00002
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp) rs773305477 0.00002
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys) rs769773673 0.00002
NM_000435.3(NOTCH3):c.4728G>C (p.Glu1576Asp) rs557113034 0.00002
NM_000454.5(SOD1):c.289G>A (p.Asp97Asn) rs121912459 0.00002
NM_000500.9(CYP21A2):c.922T>G (p.Leu308Val) rs994764994 0.00002
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp) rs373371572 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_000548.5(TSC2):c.4030G>A (p.Glu1344Lys) rs397515035 0.00002
NM_000548.5(TSC2):c.975+7C>T rs372463702 0.00002
NM_000702.4(ATP1A2):c.1500C>T (p.His500=) rs140480795 0.00002
NM_000702.4(ATP1A2):c.789G>A (p.Thr263=) rs748890267 0.00002
NM_000726.5(CACNB4):c.1437G>A (p.Gln479=) rs794727118 0.00002
NM_000744.7(CHRNA4):c.1637T>G (p.Val546Gly) rs764888239 0.00002
NM_001005361.3(DNM2):c.1836C>T (p.Asp612=) rs767061986 0.00002
NM_001040142.2(SCN2A):c.2083T>C (p.Leu695=) rs368043574 0.00002
NM_001099922.3(ALG13):c.360T>C (p.Gly120=) rs747837898 0.00002
NM_001110556.2(FLNA):c.5661C>T (p.Thr1887=) rs782253233 0.00002
NM_001127222.2(CACNA1A):c.5157C>T (p.Asp1719=) rs758409135 0.00002
NM_001127222.2(CACNA1A):c.5508C>T (p.Ala1836=) rs750338421 0.00002
NM_001127222.2(CACNA1A):c.6013G>A (p.Ala2005Thr) rs374063403 0.00002
NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly) rs771768635 0.00002
NM_001127222.2(CACNA1A):c.6340-7C>A rs765609971 0.00002
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu) rs572722130 0.00002
NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=) rs749587119 0.00002
NM_001127222.2(CACNA1A):c.7052G>A (p.Gly2351Glu) rs1442777428 0.00002
NM_001195248.2(APTX):c.124C>T (p.Arg42Ter) rs201912053 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001267550.2(TTN):c.102614G>A (p.Gly34205Asp) rs367926247 0.00002
NM_001267550.2(TTN):c.104691G>A (p.Ser34897=) rs369619711 0.00002
NM_001267550.2(TTN):c.107377+1G>A rs112188483 0.00002
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540 0.00002
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter) rs746721983 0.00002
NM_001267550.2(TTN):c.47766C>T (p.Thr15922=) rs757006832 0.00002
NM_001267550.2(TTN):c.51961C>T (p.Arg17321Cys) rs752764827 0.00002
NM_001267550.2(TTN):c.61825C>T (p.Arg20609Cys) rs786205389 0.00002
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=) rs371514555 0.00002
NM_001267550.2(TTN):c.64720G>A (p.Ala21574Thr) rs578085621 0.00002
NM_001267550.2(TTN):c.68632G>A (p.Val22878Met) rs764263517 0.00002
NM_001278116.2(L1CAM):c.3326G>A (p.Arg1109His) rs782420127 0.00002
NM_001347721.2(DYRK1A):c.1705A>G (p.Thr569Ala) rs774075762 0.00002
NM_001376.5(DYNC1H1):c.11532G>A (p.Pro3844=) rs372511563 0.00002
NM_001378452.1(ITPR1):c.7614G>A (p.Thr2538=) rs146028585 0.00002
NM_001378969.1(KCND3):c.1920G>A (p.Thr640=) rs1167459243 0.00002
NM_001458.5(FLNC):c.851-5C>T rs758216356 0.00002
NM_001845.6(COL4A1):c.1056G>A (p.Pro352=) rs531373470 0.00002
NM_002693.3(POLG):c.1250+5G>T rs751221993 0.00002
NM_002693.3(POLG):c.1808T>C (p.Met603Thr) rs367610201 0.00002
NM_002693.3(POLG):c.2897T>G (p.Leu966Arg) rs142347031 0.00002
NM_002693.3(POLG):c.3564C>T (p.Cys1188=) rs146584956 0.00002
NM_002764.4(PRPS1):c.705-6C>T rs199740956 0.00002
NM_003119.4(SPG7):c.1599G>A (p.Ala533=) rs561746823 0.00002
NM_004172.5(SLC1A3):c.1434C>G (p.Leu478=) rs778865549 0.00002
NM_004187.5(KDM5C):c.2375A>C (p.Glu792Ala) rs782426227 0.00002
NM_004562.3(PRKN):c.816C>T (p.Leu272=) rs143902760 0.00002
NM_004977.3(KCNC3):c.1224C>T (p.Asp408=) rs370533679 0.00002
NM_004984.4(KIF5A):c.2538+8T>G rs377005699 0.00002
NM_005529.7(HSPG2):c.10151-4G>A rs763324083 0.00002
NM_006772.3(SYNGAP1):c.1677-8C>T rs755438249 0.00002
NM_006946.4(SPTBN2):c.1929C>G (p.Leu643=) rs747355437 0.00002
NM_006946.4(SPTBN2):c.3717A>G (p.Val1239=) rs369017203 0.00002
NM_006946.4(SPTBN2):c.5137C>T (p.Arg1713Cys) rs754809056 0.00002
NM_006946.4(SPTBN2):c.5404G>A (p.Glu1802Lys) rs149317715 0.00002
NM_006946.4(SPTBN2):c.6536G>A (p.Arg2179Gln) rs759206588 0.00002
NM_006946.4(SPTBN2):c.7039C>T (p.Arg2347Trp) rs746195427 0.00002
NM_013382.7(POMT2):c.1654-8T>G rs780532724 0.00002
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys) rs747013127 0.00002
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser) rs376188585 0.00002
NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala) rs774463808 0.00002
NM_014363.6(SACS):c.11380G>T (p.Val3794Phe) rs753844954 0.00002
NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg) rs753511073 0.00002
NM_014363.6(SACS):c.1310C>T (p.Thr437Met) rs199657817 0.00002
NM_014363.6(SACS):c.13244A>G (p.Gln4415Arg) rs772374399 0.00002
NM_014363.6(SACS):c.2572T>G (p.Ser858Ala) rs762493571 0.00002
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu) rs776290829 0.00002
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe) rs760556327 0.00002
NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter) rs946368716 0.00002
NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln) rs772866081 0.00002
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met) rs368494148 0.00002
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu) rs747566710 0.00002
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855 0.00002
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr) rs368624188 0.00002
NM_014363.6(SACS):c.8819C>T (p.Thr2940Ile) rs1326604025 0.00002
NM_014363.6(SACS):c.8971C>T (p.Arg2991Cys) rs759112797 0.00002
NM_014795.4(ZEB2):c.2215A>G (p.Ile739Val) rs730881178 0.00002
NM_014846.4(WASHC5):c.1968G>A (p.Leu656=) rs750122277 0.00002
NM_015046.7(SETX):c.2688G>T (p.Leu896Phe) rs370551247 0.00002
NM_015046.7(SETX):c.5535C>T (p.Arg1845=) rs200433173 0.00002
NM_015046.7(SETX):c.6029A>G (p.Asn2010Ser) rs759806045 0.00002
NM_016156.6(MTMR2):c.1862G>A (p.Arg621Gln) rs371925152 0.00002
NM_016341.4(PLCE1):c.599C>T (p.Thr200Ile) rs777436865 0.00002
NM_018075.5(ANO10):c.1218+1G>C rs375479262 0.00002
NM_018075.5(ANO10):c.1760C>G (p.Ser587Ter) rs762918406 0.00002
NM_018129.4(PNPO):c.544G>A (p.Glu182Lys) rs138727329 0.00002
NM_018136.5(ASPM):c.8203T>G (p.Phe2735Val) rs372416792 0.00002
NM_020247.5(COQ8A):c.1773T>C (p.Ile591=) rs369502091 0.00002
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val) rs748118737 0.00002
NM_020822.3(KCNT1):c.104C>T (p.Ala35Val) rs772080195 0.00002
NM_021625.5(TRPV4):c.479G>A (p.Arg160Gln) rs139300843 0.00002
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala) rs146304351 0.00002
NM_021971.4(GMPPB):c.931C>T (p.Arg311Cys) rs371188899 0.00002
NM_022124.6(CDH23):c.1543A>G (p.Ile515Val) rs727504914 0.00002
NM_022173.4(TIA1):c.1150G>A (p.Glu384Lys) rs747068278 0.00002
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His) rs80338923 0.00002
NM_024678.6(NARS2):c.151C>T (p.Arg51Cys) rs367584549 0.00002
NM_030962.4(SBF2):c.4394G>A (p.Gly1465Glu) rs762165359 0.00002
NM_032119.4(ADGRV1):c.14319A>G (p.Ile4773Met) rs201953675 0.00002
NM_032409.3(PINK1):c.434C>T (p.Thr145Met) rs45604240 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_130837.3(OPA1):c.706C>A (p.Gln236Lys) rs779375399 0.00002
NM_144773.4(PROKR2):c.563C>T (p.Ser188Leu) rs376239580 0.00002
NM_170707.4(LMNA):c.1098G>A (p.Lys366=) rs57901307 0.00002
NM_170707.4(LMNA):c.647G>A (p.Arg216His) rs757041809 0.00002
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338 0.00002
NM_173500.4(TTBK2):c.3471C>T (p.Ser1157=) rs371070916 0.00002
NM_173500.4(TTBK2):c.452G>A (p.Arg151His) rs375070421 0.00002
NM_178012.5(TUBB2B):c.57+4G>A rs767477213 0.00002
NM_182961.4(SYNE1):c.11001C>T (p.Asp3667=) rs750318922 0.00002
NM_182961.4(SYNE1):c.16553G>A (p.Arg5518Gln) rs150604289 0.00002
NM_182961.4(SYNE1):c.18441T>C (p.Asn6147=) rs558367406 0.00002
NM_182961.4(SYNE1):c.25223A>G (p.His8408Arg) rs375476506 0.00002
NM_182961.4(SYNE1):c.3837+8T>C rs377391406 0.00002
NM_182961.4(SYNE1):c.9933C>T (p.Ser3311=) rs759403157 0.00002
NM_201384.3(PLEC):c.3787G>A (p.Glu1263Lys) rs377125427 0.00002
NM_201525.4(ADGRG1):c.1236C>T (p.Val412=) rs768769972 0.00002
NM_000051.4(ATM):c.1335A>G (p.Gln445=) rs1385656085 0.00001
NM_000051.4(ATM):c.2333A>G (p.Asn778Ser) rs587779820 0.00001
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala) rs587781812 0.00001
NM_000051.4(ATM):c.3G>A (p.Met1Ile) rs781404312 0.00001
NM_000051.4(ATM):c.5488A>G (p.Met1830Val) rs587781622 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000051.4(ATM):c.6681C>T (p.Arg2227=) rs775850434 0.00001
NM_000051.4(ATM):c.6807G>A (p.Gln2269=) rs587780638 0.00001
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser) rs531617441 0.00001
NM_000051.4(ATM):c.8730C>G (p.Leu2910=) rs551041839 0.00001
NM_000051.4(ATM):c.8987+3G>A rs56360226 0.00001
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493 0.00001
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu) rs139836397 0.00001
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) rs774048743 0.00001
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871 0.00001
NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys) rs756981034 0.00001
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658 0.00001
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu) rs149892539 0.00001
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu) rs770900468 0.00001
NM_000083.3(CLCN1):c.1930+1G>A rs771002652 0.00001
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp) rs748639603 0.00001
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp) rs746691295 0.00001
NM_000083.3(CLCN1):c.774G>A (p.Glu258=) rs770605959 0.00001
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys) rs121912805 0.00001
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) rs202179484 0.00001
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val) rs1478129213 0.00001
NM_000088.4(COL1A1):c.1920C>T (p.Pro640=) rs745564892 0.00001
NM_000088.4(COL1A1):c.3842G>T (p.Gly1281Val) rs918420911 0.00001
NM_000089.4(COL1A2):c.1159G>C (p.Ala387Pro) rs972825197 0.00001
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser) rs72656387 0.00001
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg) rs757341933 0.00001
NM_000091.5(COL4A3):c.3250G>T (p.Glu1084Ter) rs1192750535 0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val) rs775373641 0.00001
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg) rs1014839148 0.00001
NM_000091.5(COL4A3):c.87+8G>C rs1223507970 0.00001
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter) rs534522842 0.00001
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235 0.00001
NM_000092.5(COL4A4):c.1203A>G (p.Ala401=) rs778832152 0.00001
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser) rs181528936 0.00001
NM_000092.5(COL4A4):c.3317G>A (p.Gly1106Asp) rs1559482299 0.00001
NM_000092.5(COL4A4):c.3506-8T>G rs761588725 0.00001
NM_000092.5(COL4A4):c.3771G>A (p.Pro1257=) rs1384523881 0.00001
NM_000092.5(COL4A4):c.4288G>A (p.Gly1430Arg) rs775926807 0.00001
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter) rs545986367 0.00001
NM_000100.4(CSTB):c.1_2insAT (p.Met1fs) rs1044894207 0.00001
NM_000144.5(FXN):c.123C>T (p.Gly41=) rs1057519131 0.00001
NM_000162.5(GCK):c.1364T>A (p.Val455Glu) rs753795627 0.00001
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) rs1085307455 0.00001
NM_000162.5(GCK):c.605T>C (p.Met202Thr) rs193922311 0.00001
NM_000162.5(GCK):c.680-19C>T rs373410298 0.00001
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331 0.00001
NM_000162.5(GCK):c.823C>T (p.Arg275Cys) rs556436603 0.00001
NM_000162.5(GCK):c.951C>G (p.His317Gln) rs1379908545 0.00001
NM_000170.3(GLDC):c.861+10C>T rs565335444 0.00001
NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp) rs1555518481 0.00001
NM_000238.4(KCNH2):c.1263G>A (p.Thr421=) rs368109121 0.00001
NM_000260.4(MYO7A):c.2187+1G>A rs111033290 0.00001
NM_000260.4(MYO7A):c.6356A>G (p.Gln2119Arg) rs1029122324 0.00001
NM_000297.4(PKD2):c.1319+1G>A rs1131692280 0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 0.00001
NM_000334.4(SCN4A):c.1333G>C (p.Val445Leu) rs121908552 0.00001
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp) rs121908556 0.00001
NM_000334.4(SCN4A):c.4484T>C (p.Ile1495Thr) rs1318966106 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr) rs1266053680 0.00001
NM_000352.6(ABCC8):c.3989-10C>T rs373737642 0.00001
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn) rs769569410 0.00001
NM_000368.5(TSC1):c.1141+10T>C rs367601694 0.00001
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile) rs77464996 0.00001
NM_000370.3(TTPA):c.2T>C (p.Met1Thr) rs786204758 0.00001
NM_000370.3(TTPA):c.6A>T (p.Ala2=) rs1805748956 0.00001
NM_000371.4(TTR):c.130C>T (p.Pro44Ser) rs11541790 0.00001
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070 0.00001
NM_000371.4(TTR):c.301G>A (p.Ala101Thr) rs730881165 0.00001
NM_000371.4(TTR):c.349G>T (p.Ala117Ser) rs267607161 0.00001
NM_000371.4(TTR):c.88T>C (p.Cys30Arg) rs121918083 0.00001
NM_000388.4(CASR):c.1393C>T (p.Arg465Trp) rs751217000 0.00001
NM_000388.4(CASR):c.206G>A (p.Arg69His) rs193922432 0.00001
NM_000426.4(LAMA2):c.2376C>T (p.Phe792=) rs150046431 0.00001
NM_000426.4(LAMA2):c.488A>T (p.Tyr163Phe) rs201175472 0.00001
NM_000435.3(NOTCH3):c.1059C>T (p.Asp353=) rs529200949 0.00001
NM_000435.3(NOTCH3):c.1474A>T (p.Ser492Cys) rs2046899820 0.00001
NM_000435.3(NOTCH3):c.1494C>T (p.Gly498=) rs142762020 0.00001
NM_000435.3(NOTCH3):c.1594C>T (p.Arg532Cys) rs1202763005 0.00001
NM_000435.3(NOTCH3):c.1635C>T (p.Asn545=) rs763667541 0.00001
NM_000435.3(NOTCH3):c.197+8C>T rs1216276758 0.00001
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys) rs1057519101 0.00001
NM_000435.3(NOTCH3):c.2209G>A (p.Ala737Thr) rs754815179 0.00001
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys) rs1167405466 0.00001
NM_000435.3(NOTCH3):c.3206A>G (p.Tyr1069Cys) rs1438064001 0.00001
NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys) rs1438626607 0.00001
NM_000435.3(NOTCH3):c.3298C>T (p.Arg1100Cys) rs963416165 0.00001
NM_000435.3(NOTCH3):c.329G>A (p.Arg110His) rs769955930 0.00001
NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr) rs1266914122 0.00001
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) rs28933697 0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 0.00001
NM_000435.3(NOTCH3):c.6255G>A (p.Thr2085=) rs967649457 0.00001
NM_000447.3(PSEN2):c.712C>T (p.Leu238Phe) rs367855127 0.00001
NM_000451.4(SHOX):c.702G>A (p.Ala234=) rs576542942 0.00001
NM_000454.5(SOD1):c.193T>C (p.Phe65Leu) rs1030039318 0.00001
NM_000454.5(SOD1):c.449T>C (p.Ile150Thr) rs1424014997 0.00001
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp) rs763159520 0.00001
NM_000478.6(ALPL):c.643A>G (p.Ile215Val) rs769903299 0.00001
NM_000486.6(AQP2):c.190G>A (p.Gly64Arg) rs104894326 0.00001
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938 0.00001
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln) rs267601810 0.00001
NM_000500.9(CYP21A2):c.919T>G (p.Phe307Val) rs746303150 0.00001
NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys) rs954727530 0.00001
NM_000525.4(KCNJ11):c.160C>T (p.Arg54Cys) rs375848765 0.00001
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg) rs104894248 0.00001
NM_000525.4(KCNJ11):c.874G>A (p.Glu292Lys) rs1174593640 0.00001
NM_000527.4(LDLR):c.313+1G>A rs112029328 0.00001
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099 0.00001
NM_000530.8(MPZ):c.385G>A (p.Val129Ile) rs201156403 0.00001
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128 0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His) rs139161723 0.00001
NM_000540.3(RYR1):c.9413C>T (p.Pro3138Leu) rs762652935 0.00001
NM_000540.3(RYR1):c.9605C>T (p.Pro3202Leu) rs754002399 0.00001
NM_000540.3(RYR1):c.9623C>T (p.Pro3208Leu) rs758210285 0.00001
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter) rs752199191 0.00001
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu) rs749673816 0.00001
NM_000545.8(HNF1A):c.527-19C>T rs563495098 0.00001
NM_000545.8(HNF1A):c.599G>A (p.Arg200Gln) rs893256143 0.00001
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu) rs1286294151 0.00001
NM_000548.5(TSC2):c.4418A>G (p.Lys1473Arg) rs1219556604 0.00001
NM_000702.4(ATP1A2):c.588C>T (p.Arg196=) rs533663836 0.00001
NM_000726.5(CACNB4):c.288C>T (p.Ala96=) rs558998873 0.00001
NM_000726.5(CACNB4):c.331G>A (p.Val111Met) rs764764389 0.00001
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100 0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757 0.00001
NM_001009944.3(PKD1):c.7810G>A (p.Asp2604Asn) rs778565182 0.00001
NM_001009944.3(PKD1):c.8017-2_8017-1del rs1567180636 0.00001
NM_001009944.3(PKD1):c.8300G>A (p.Arg2767His) rs770080914 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001009944.3(PKD1):c.9412G>A (p.Val3138Met) rs1358566538 0.00001
NM_001039876.3(SYNE4):c.972+5G>A rs369269989 0.00001
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) rs119462987 0.00001
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400 0.00001
NM_001079802.2(FKTN):c.588C>T (p.Asp196=) rs1222153269 0.00001
NM_001083961.2(WDR62):c.2040T>C (p.His680=) rs765451882 0.00001
NM_001110792.2(MECP2):c.1458T>C (p.Pro486=) rs1557134910 0.00001
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) rs137852973 0.00001
NM_001126108.2(SLC12A3):c.1049C>T (p.Ser350Leu) rs778585043 0.00001
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln) rs369360334 0.00001
NM_001126108.2(SLC12A3):c.472C>T (p.Arg158Trp) rs1041531529 0.00001
NM_001127222.2(CACNA1A):c.1199-9C>T rs529977616 0.00001
NM_001127222.2(CACNA1A):c.1427G>A (p.Arg476His) rs755107633 0.00001
NM_001127222.2(CACNA1A):c.1594G>A (p.Glu532Lys) rs1064794263 0.00001
NM_001127222.2(CACNA1A):c.3420C>T (p.Pro1140=) rs542849275 0.00001
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys) rs121908243 0.00001
NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=) rs886043622 0.00001
NM_001127222.2(CACNA1A):c.5839+10G>A rs371733571 0.00001
NM_001127222.2(CACNA1A):c.6141G>A (p.Pro2047=) rs760682283 0.00001
NM_001130438.3(SPTAN1):c.2599G>A (p.Glu867Lys) rs1339046005 0.00001
NM_001130438.3(SPTAN1):c.979C>T (p.Leu327=) rs587784442 0.00001
NM_001130987.2(DYSF):c.1276+5G>A rs766433603 0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782 0.00001
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys) rs758993965 0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052 0.00001
NM_001134407.3(GRIN2A):c.990G>A (p.Pro330=) rs149902963 0.00001
NM_001146262.4(SYT14):c.-3A>G rs985232390 0.00001
NM_001164508.2(NEB):c.24395_24398dup (p.Leu8133fs) rs762133567 0.00001
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His) rs575368466 0.00001
NM_001165963.4(SCN1A):c.846C>A (p.Pro282=) rs1352832546 0.00001
NM_001166114.2(PNPLA6):c.3805C>T (p.Arg1269Cys) rs2024064953 0.00001
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) rs772235481 0.00001
NM_001267550.2(TTN):c.21956C>T (p.Thr7319Ile) rs876658043 0.00001
NM_001267550.2(TTN):c.23091A>G (p.Thr7697=) rs1198504900 0.00001
NM_001267550.2(TTN):c.23521A>T (p.Asn7841Tyr) rs753072306 0.00001
NM_001267550.2(TTN):c.28462+3A>G rs1402065855 0.00001
NM_001267550.2(TTN):c.2967C>A (p.Phe989Leu) rs376548316 0.00001
NM_001267550.2(TTN):c.42840T>G (p.Asp14280Glu) rs760643071 0.00001
NM_001267550.2(TTN):c.47481G>A (p.Gln15827=) rs752514306 0.00001
NM_001267550.2(TTN):c.47758A>C (p.Lys15920Gln) rs775513269 0.00001
NM_001267550.2(TTN):c.47874T>C (p.Phe15958=) rs747343598 0.00001
NM_001267550.2(TTN):c.48143T>C (p.Ile16048Thr) rs749678590 0.00001
NM_001267550.2(TTN):c.58191G>A (p.Thr19397=) rs370091658 0.00001
NM_001267550.2(TTN):c.62275G>A (p.Glu20759Lys) rs562680371 0.00001
NM_001267550.2(TTN):c.63743T>C (p.Leu21248Pro) rs745323281 0.00001
NM_001267550.2(TTN):c.7173C>T (p.Asp2391=) rs374509926 0.00001
NM_001267550.2(TTN):c.76565T>C (p.Ile25522Thr) rs372963832 0.00001
NM_001267550.2(TTN):c.77515A>C (p.Lys25839Gln) rs1371831965 0.00001
NM_001267550.2(TTN):c.86120G>A (p.Gly28707Glu) rs754207859 0.00001
NM_001267550.2(TTN):c.89639T>G (p.Leu29880Arg) rs781165041 0.00001
NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val) rs553668520 0.00001
NM_001267550.2(TTN):c.92226G>A (p.Arg30742=) rs759484932 0.00001
NM_001267550.2(TTN):c.93288T>C (p.Tyr31096=) rs1280272876 0.00001
NM_001267550.2(TTN):c.95085G>T (p.Gly31695=) rs746787955 0.00001
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568 0.00001
NM_001271.4(CHD2):c.5106G>A (p.Gln1702=) rs781108294 0.00001
NM_001271.4(CHD2):c.5120G>A (p.Arg1707Gln) rs61759469 0.00001
NM_001278116.2(L1CAM):c.1304C>T (p.Thr435Met) rs371999853 0.00001
NM_001278116.2(L1CAM):c.2698G>A (p.Gly900Arg) rs782097679 0.00001
NM_001330078.2(NRXN1):c.1326A>C (p.Val442=) rs201485014 0.00001
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile) rs121909765 0.00001
NM_001370259.2(MEN1):c.1099G>A (p.Val367Ile) rs758404089 0.00001
NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=) rs2273439 0.00001
NM_001377265.1(MAPT):c.2091+19C>G rs63750162 0.00001
NM_001378120.1(MBD5):c.415C>T (p.Pro139Ser) rs1472737578 0.00001
NM_001378452.1(ITPR1):c.1152-6T>C rs752886993 0.00001
NM_001378452.1(ITPR1):c.4251C>T (p.Arg1417=) rs375223250 0.00001
NM_001378452.1(ITPR1):c.4473C>T (p.Ile1491=) rs192863290 0.00001
NM_001378452.1(ITPR1):c.5760C>T (p.Val1920=) rs773926755 0.00001
NM_001378969.1(KCND3):c.1683C>T (p.Asn561=) rs749990612 0.00001
NM_001384140.1(PCDH15):c.3807-6T>G rs727504791 0.00001
NM_001458.5(FLNC):c.5544C>T (p.Ser1848=) rs1350503435 0.00001
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) rs770272088 0.00001
NM_001845.6(COL4A1):c.4151-10T>C rs756588136 0.00001
NM_001845.6(COL4A1):c.518G>A (p.Gly173Asp) rs567124920 0.00001
NM_001845.6(COL4A1):c.553-10T>C rs370673476 0.00001
NM_001961.4(EEF2):c.1347-8T>G rs376174565 0.00001
NM_001961.4(EEF2):c.746G>A (p.Arg249Gln) rs769755490 0.00001
NM_002047.4(GARS1):c.843G>A (p.Met281Ile) rs545669679 0.00001
NM_002055.5(GFAP):c.209G>A (p.Arg70Gln) rs267607510 0.00001
NM_002292.4(LAMB2):c.2669C>T (p.Thr890Ile) rs527639885 0.00001
NM_002547.3(OPHN1):c.2170A>G (p.Ser724Gly) rs760163301 0.00001
NM_002547.3(OPHN1):c.2316A>G (p.Thr772=) rs1403350105 0.00001
NM_002693.3(POLG):c.1735C>T (p.Arg579Trp) rs556925652 0.00001
NM_002693.3(POLG):c.679C>T (p.Arg227Trp) rs121918056 0.00001
NM_002739.5(PRKCG):c.1764+1G>T rs1406338491 0.00001
NM_002968.3(SALL1):c.2825C>A (p.Pro942His) rs751069468 0.00001
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003119.4(SPG7):c.1552+2dup rs1567928509 0.00001
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) rs864622507 0.00001
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro) rs864622094 0.00001
NM_003119.4(SPG7):c.376+1G>T rs746053679 0.00001
NM_003119.4(SPG7):c.69G>A (p.Trp23Ter) rs1457238867 0.00001
NM_003242.6(TGFBR2):c.1067G>A (p.Arg356Gln) rs727504292 0.00001
NM_003482.4(KMT2D):c.14972G>A (p.Arg4991Gln) rs761108868 0.00001
NM_003482.4(KMT2D):c.6435G>A (p.Pro2145=) rs374077422 0.00001
NM_003482.4(KMT2D):c.6884C>T (p.Ser2295Phe) rs758685548 0.00001
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817 0.00001
NM_003900.5(SQSTM1):c.185G>T (p.Gly62Val) rs774355338 0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309 0.00001
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro) rs727504302 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_004004.6(GJB2):c.628T>C (p.Leu210=) rs1036073348 0.00001
NM_004621.6(TRPC6):c.643C>T (p.Arg215Trp) rs768210838 0.00001
NM_004646.4(NPHS1):c.728_729del (p.Pro243fs) rs1599845714 0.00001
NM_004863.4(SPTLC2):c.547C>T (p.Arg183Trp) rs775437084 0.00001
NM_004977.3(KCNC3):c.1260C>T (p.Arg420=) rs115066106 0.00001
NM_004977.3(KCNC3):c.1443C>T (p.Gly481=) rs767049102 0.00001
NM_004984.4(KIF5A):c.531G>A (p.Pro177=) rs771476833 0.00001
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp) rs1012819766 0.00001
NM_005529.7(HSPG2):c.1120C>T (p.Arg374Ter) rs759220039 0.00001
NM_005529.7(HSPG2):c.4275A>G (p.Pro1425=) rs540961117 0.00001
NM_005619.5(RTN2):c.389C>T (p.Ala130Val) rs745409162 0.00001
NM_005619.5(RTN2):c.79+6T>A rs749104931 0.00001
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) rs370479598 0.00001
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) rs369841551 0.00001
NM_006158.5(NEFL):c.1319C>T (p.Pro440Leu) rs587777882 0.00001
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) rs119482083 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe) rs121908458 0.00001
NM_006796.3(AFG3L2):c.1233G>A (p.Ala411=) rs774375813 0.00001
NM_006796.3(AFG3L2):c.202C>T (p.Arg68Ter) rs543422544 0.00001
NM_006946.4(SPTBN2):c.2006C>T (p.Thr669Met) rs775522542 0.00001
NM_006946.4(SPTBN2):c.2464G>A (p.Glu822Lys) rs771402351 0.00001
NM_006946.4(SPTBN2):c.3738C>T (p.Ala1246=) rs779091056 0.00001
NM_006946.4(SPTBN2):c.4279-8G>A rs369614446 0.00001
NM_006946.4(SPTBN2):c.4833G>C (p.Met1611Ile) rs1328577241 0.00001
NM_006946.4(SPTBN2):c.6265A>T (p.Arg2089Trp) rs890981545 0.00001
NM_006946.4(SPTBN2):c.6284G>A (p.Arg2095Gln) rs774653711 0.00001
NM_006946.4(SPTBN2):c.6802G>A (p.Val2268Met) rs750623875 0.00001
NM_006946.4(SPTBN2):c.6990G>A (p.Ala2330=) rs372297351 0.00001
NM_006946.4(SPTBN2):c.963C>T (p.Ile321=) rs1456985458 0.00001
NM_012301.4(MAGI2):c.1425T>C (p.Tyr475=) rs148086431 0.00001
NM_013382.7(POMT2):c.629T>C (p.Met210Thr) rs369654108 0.00001
NM_014053.4(FLVCR1):c.1521A>G (p.Leu507=) rs74607124 0.00001
NM_014231.5(VAMP1):c.315T>A (p.Cys105Ter) rs1237437677 0.00001
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser) rs1425519295 0.00001
NM_014363.6(SACS):c.10766T>C (p.Ile3589Thr) rs551720360 0.00001
NM_014363.6(SACS):c.11887A>G (p.Met3963Val) rs375613914 0.00001
NM_014363.6(SACS):c.12613A>G (p.Ile4205Val) rs756979757 0.00001
NM_014363.6(SACS):c.12902A>G (p.Asn4301Ser) rs748415049 0.00001
NM_014363.6(SACS):c.13269A>T (p.Ser4423=) rs1180908312 0.00001
NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg) rs754693143 0.00001
NM_014363.6(SACS):c.13610G>A (p.Arg4537Lys) rs763212039 0.00001
NM_014363.6(SACS):c.1498G>A (p.Val500Ile) rs1244967438 0.00001
NM_014363.6(SACS):c.1654C>G (p.Leu552Val) rs767218921 0.00001
NM_014363.6(SACS):c.2289A>G (p.Gln763=) rs765734527 0.00001
NM_014363.6(SACS):c.2471C>T (p.Ser824Leu) rs762821420 0.00001
NM_014363.6(SACS):c.2611C>T (p.Pro871Ser) rs370103461 0.00001
NM_014363.6(SACS):c.3017A>G (p.His1006Arg) rs368149368 0.00001
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala) rs1443000762 0.00001
NM_014363.6(SACS):c.434C>G (p.Ser145Ter) rs994374354 0.00001
NM_014363.6(SACS):c.4538G>C (p.Gly1513Ala) rs768073167 0.00001
NM_014363.6(SACS):c.4597T>G (p.Ser1533Ala) rs1230237404 0.00001
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val) rs544249449 0.00001
NM_014363.6(SACS):c.47G>T (p.Gly16Val) rs886050090 0.00001
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu) rs771080306 0.00001
NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn) rs774163551 0.00001
NM_014363.6(SACS):c.511G>A (p.Gly171Ser) rs1376756373 0.00001
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn) rs370902090 0.00001
NM_014363.6(SACS):c.6179T>C (p.Val2060Ala) rs779589728 0.00001
NM_014363.6(SACS):c.623G>T (p.Ser208Ile) rs911764681 0.00001
NM_014363.6(SACS):c.6778A>G (p.Ile2260Val) rs202110208 0.00001
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val) rs1007936574 0.00001
NM_014363.6(SACS):c.751G>A (p.Val251Ile) rs776176699 0.00001
NM_014363.6(SACS):c.7993C>T (p.Arg2665Cys) rs749931330 0.00001
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) rs772742353 0.00001
NM_014363.6(SACS):c.8795G>A (p.Arg2932Gln) rs770769237 0.00001
NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg) rs758654165 0.00001
NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys) rs776143384 0.00001
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr) rs765635417 0.00001
NM_014625.4(NPHS2):c.416T>G (p.Leu139Arg) rs1345260812 0.00001
NM_014855.3(AP5Z1):c.392C>T (p.Ala131Val) rs372539355 0.00001
NM_014946.4(SPAST):c.1245+1G>A rs875989878 0.00001
NM_014946.4(SPAST):c.1783A>G (p.Ser595Gly) rs1553321245 0.00001
NM_015046.7(SETX):c.5267T>C (p.Phe1756Ser) rs762175796 0.00001
NM_015046.7(SETX):c.5320C>T (p.Gln1774Ter) rs1391764195 0.00001
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln) rs145397619 0.00001
NM_015046.7(SETX):c.7200-3T>C rs750883399 0.00001
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=) rs200730202 0.00001
NM_018075.5(ANO10):c.2T>C (p.Met1Thr) rs531656357 0.00001
NM_018075.5(ANO10):c.338-2A>G rs761765455 0.00001
NM_018100.4(EFHC1):c.15C>T (p.Pro5=) rs1339961633 0.00001
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149 0.00001
NM_018972.4(GDAP1):c.818G>A (p.Arg273Gln) rs879254192 0.00001
NM_020247.5(COQ8A):c.1049A>G (p.Lys350Arg) rs548317868 0.00001
NM_020247.5(COQ8A):c.1830C>T (p.His610=) rs894977586 0.00001
NM_020247.5(COQ8A):c.358G>A (p.Val120Met) rs376347405 0.00001
NM_020247.5(COQ8A):c.909C>T (p.Ser303=) rs202036077 0.00001
NM_020320.5(RARS2):c.1582_1583dup (p.Leu528fs) rs863224183 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_021098.3(CACNA1H):c.4156G>A (p.Ala1386Thr) rs766694151 0.00001
NM_021098.3(CACNA1H):c.6027C>T (p.Leu2009=) rs766357140 0.00001
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys) rs373049874 0.00001
NM_021625.5(TRPV4):c.58G>A (p.Gly20Arg) rs764970185 0.00001
NM_021830.5(TWNK):c.908G>A (p.Arg303Gln) rs137852956 0.00001
NM_023110.3(FGFR1):c.66G>C (p.Arg22Ser) rs17175750 0.00001
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val) rs757043077 0.00001
NM_024334.3(TMEM43):c.1120_1121del (p.Leu374fs) rs746672224 0.00001
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro) rs537759361 0.00001
NM_030665.4(RAI1):c.1915C>T (p.Pro639Ser) rs1030615093 0.00001
NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp) rs1131691924 0.00001
NM_032119.4(ADGRV1):c.2800C>G (p.Pro934Ala) rs149600158 0.00001
NM_032119.4(ADGRV1):c.6728T>C (p.Ile2243Thr) rs1050561499 0.00001
NM_032119.4(ADGRV1):c.7007G>A (p.Arg2336Gln) rs755180090 0.00001
NM_033109.5(PNPT1):c.337C>T (p.Pro113Ser) rs930190521 0.00001
NM_080916.3(DGUOK):c.757_759del (p.Asn253del) rs775276142 0.00001
NM_152296.5(ATP1A3):c.741G>C (p.Val247=) rs767234141 0.00001
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys) rs397517880 0.00001
NM_153766.3(KCNJ1):c.867C>A (p.Cys289Ter) rs746509804 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_172107.4(KCNQ2):c.2592C>T (p.Asp864=) rs536366837 0.00001
NM_175914.5(HNF4A):c.123C>T (p.Cys41=) rs147552575 0.00001
NM_175914.5(HNF4A):c.733C>T (p.Arg245Cys) rs1290868034 0.00001
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys) rs193922479 0.00001
NM_177550.5(SLC13A5):c.402C>T (p.Leu134=) rs1336828226 0.00001
NM_182961.4(SYNE1):c.10650C>T (p.Asn3550=) rs772377391 0.00001
NM_182961.4(SYNE1):c.18513G>T (p.Arg6171Ser) rs764725032 0.00001
NM_182961.4(SYNE1):c.23145+6T>G rs794727081 0.00001
NM_182961.4(SYNE1):c.8562T>C (p.Asp2854=) rs757737346 0.00001
NM_182961.4(SYNE1):c.9507+6T>C rs372138410 0.00001
NM_198994.3(TGM6):c.573C>G (p.Leu191=) rs1347908694 0.00001
NM_198994.3(TGM6):c.618C>T (p.Thr206=) rs111415879 0.00001
NM_201384.3(PLEC):c.10830C>T (p.Ala3610=) rs80304210 0.00001
NM_201384.3(PLEC):c.3081+9C>T rs371983298 0.00001
NM_201384.3(PLEC):c.6845G>A (p.Arg2282Gln) rs782316711 0.00001
NM_213599.3(ANO5):c.2470del (p.Gln824fs) rs770694933 0.00001
NC_000002.12:g.227030555delinsGAG rs1575895541
NC_012920.1(MT-CO1):m.5951A>G rs7340122
NC_012920.1(MT-CO1):m.6071T>C rs7340086
NC_012920.1(MT-CO1):m.6260G>A rs201395766
NC_012920.1(MT-CO1):m.6261G>A rs201262114
NC_012920.1(MT-CYB):m.1193T>C rs111033321
NC_012920.1(MT-ND1):m.1442G>A rs28358573
NC_012920.1(MT-ND1):m.3308T>C rs28358582
NC_012920.1(MT-ND1):m.3796A>G rs28357970
NC_012920.1(MT-ND1):m.3849G>A rs878853081
NC_012920.1(MT-TQ):m.4336T>C rs41456348
NC_012920.1(MT-TS1):m.7468C>T rs111033173
NC_012920.1(MT-TS2):m.12236G>A rs28359170
NM_000021.4(PSEN1):c.703C>G (p.Leu235Val) rs63751130
NM_000021.4(PSEN1):c.786G>C (p.Leu262Phe) rs63750248
NM_000021.4(PSEN1):c.799C>G (p.Pro267Ala) rs63751229
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.498_520del (p.Val167fs) rs398123112
NM_000051.4(ATM):c.1380G>C (p.Thr460=) rs145333518
NM_000051.4(ATM):c.2250+7G>A rs752009031
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000051.4(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2922-50_2940del rs1555084832
NM_000051.4(ATM):c.3154-4G>A rs199543313
NM_000051.4(ATM):c.3285-9del rs1799757
NM_000051.4(ATM):c.482A>C (p.Gln161Pro) rs587780625
NM_000051.4(ATM):c.5675-7_5675-4del rs1189695629
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs) rs786203421
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.7927+5del rs786204437
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000054.7(AVPR2):c.965C>T (p.Pro322Leu) rs2521161799
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His) rs150590855
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000069.3(CACNA1S):c.2454G>T (p.Ala818=) rs141619541
NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs) rs554596425
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.1865_1866del (p.Glu622fs) rs2054085839
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000070.3(CAPN3):c.2381-2A>G rs863224962
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del) rs794727697
NM_000080.4(CHRNE):c.1383C>G (p.Ala461=) rs570378547
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000080.4(CHRNE):c.529_531del (p.Glu177del) rs779816027
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys) rs756199349
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu) rs1380726444
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val) rs2116373070
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs) rs755176513
NM_000083.3(CLCN1):c.411delinsGGA (p.Tyr137Ter) rs1586484463
NM_000083.3(CLCN1):c.434-2_434dup rs753470655
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser) rs139039122
NM_000083.3(CLCN1):c.799C>T (p.Leu267=) rs1563075864
NM_000083.3(CLCN1):c.982A>G (p.Thr328Ala)
NM_000085.5(CLCNKB):c.1325A>G (p.Glu442Gly) rs1180658535
NM_000085.5(CLCNKB):c.1631_1632delinsAT (p.Arg544His) rs1553128179
NM_000088.4(COL1A1):c.1300-8C>G rs41317361
NM_000088.4(COL1A1):c.1300-8C>T rs41317361
NM_000088.4(COL1A1):c.2838T>G (p.Pro946=) rs1555572418
NM_000088.4(COL1A1):c.3046-20CT[10] rs138425306
NM_000088.4(COL1A1):c.3823T>C (p.Trp1275Arg) rs1555571769
NM_000088.4(COL1A1):c.441del (p.Gly148fs) rs1473458290
NM_000088.4(COL1A1):c.859-17_859-16delinsGTAGATCAGAAT rs1555574417
NM_000088.4(COL1A1):c.976G>C (p.Gly326Arg) rs72645355
NM_000091.5(COL4A3):c.1201G>A (p.Gly401Arg) rs1559878824
NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg) rs1559878862
NM_000091.5(COL4A3):c.1933del (p.Arg645fs) rs1559890140
NM_000091.5(COL4A3):c.2593G>A (p.Gly865Ser) rs1559897190
NM_000091.5(COL4A3):c.3882+5G>A rs1553764454
NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000091.5(COL4A3):c.637G>A (p.Gly213Arg) rs1553752192
NM_000091.5(COL4A3):c.997G>A (p.Gly333Arg) rs761819520
NM_000092.5(COL4A4):c.2110G>A (p.Gly704Arg) rs1379525680
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.5(COL4A4):c.2456G>T (p.Gly819Val) rs1576189036
NM_000092.5(COL4A4):c.3577G>T (p.Gly1193Cys) rs1158350974
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000092.5(COL4A4):c.4760C>T (p.Pro1587Leu) rs190148408
NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter) rs1408907127
NM_000092.5(COL4A4):c.680G>A (p.Arg227His) rs368248078
NM_000092.5(COL4A4):c.737G>A (p.Gly246Asp) rs1559631986
NM_000092.5(COL4A4):c.914_930+29del rs1553683757
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000110.4(DPYD):c.3067C>A (p.Pro1023Thr) rs114096998
NM_000142.5(FGFR3):c.912C>G (p.Pro304=) rs201012537
NM_000161.3(GCH1):c.323G>A (p.Gly108Asp) rs104894435
NM_000162.5(GCK):c.1020-10C>A rs193922257
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn) rs1064793134
NM_000162.5(GCK):c.1099G>A (p.Val367Met) rs1057521092
NM_000162.5(GCK):c.1113C>G (p.Cys371Trp) rs556581174
NM_000162.5(GCK):c.1130G>A (p.Arg377His) rs193922264
NM_000162.5(GCK):c.1136C>T (p.Ala379Val) rs193922265
NM_000162.5(GCK):c.1144T>C (p.Cys382Arg) rs1554334613
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu) rs777870079
NM_000162.5(GCK):c.1151C>T (p.Ala384Val) rs1583591747
NM_000162.5(GCK):c.1157T>C (p.Leu386Pro) rs193922268
NM_000162.5(GCK):c.115_117del (p.Lys39del) rs2096283216
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp) rs2096271482
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) rs1167124132
NM_000162.5(GCK):c.122T>C (p.Met41Thr) rs1057524906
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu) rs193922272
NM_000162.5(GCK):c.1247A>C (p.His416Pro) rs1583591303
NM_000162.5(GCK):c.1255T>C (p.Phe419Leu) rs1554334478
NM_000162.5(GCK):c.127C>A (p.Arg43Ser) rs1486280029
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.130G>A (p.Gly44Ser) rs267601516
NM_000162.5(GCK):c.1327G>T (p.Glu443Ter) rs1562711915
NM_000162.5(GCK):c.1339C>G (p.Arg447Gly) rs193922281
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln) rs1131691416
NM_000162.5(GCK):c.1348G>T (p.Ala450Ser) rs2484492011
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) rs193922283
NM_000162.5(GCK):c.167A>C (p.Lys56Thr) rs2096283096
NM_000162.5(GCK):c.185T>C (p.Val62Ala) rs1444739794
NM_000162.5(GCK):c.208G>A (p.Glu70Lys) rs2128823091
NM_000162.5(GCK):c.214G>A (p.Gly72Arg) rs193922289
NM_000162.5(GCK):c.364C>A (p.Leu122Ile) rs1554335616
NM_000162.5(GCK):c.364C>G (p.Leu122Val) rs1554335616
NM_000162.5(GCK):c.370G>C (p.Asp124His) rs759072800
NM_000162.5(GCK):c.389T>C (p.Ile130Thr) rs1036483919
NM_000162.5(GCK):c.457C>T (p.Pro153Ser) rs193922300
NM_000162.5(GCK):c.469G>A (p.Glu157Lys) rs1554335570
NM_000162.5(GCK):c.477C>G (p.Ile159Met) rs1554335567
NM_000162.5(GCK):c.478G>A (p.Asp160Asn) rs1554335566
NM_000162.5(GCK):c.531A>C (p.Glu177Asp) rs2484524170
NM_000162.5(GCK):c.540T>G (p.Asn180Lys) rs1554335444
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000162.5(GCK):c.579+12C>G rs202001955
NM_000162.5(GCK):c.595G>A (p.Val199Met) rs1554335417
NM_000162.5(GCK):c.601G>T (p.Ala201Ser) rs794727775
NM_000162.5(GCK):c.610A>G (p.Asn204Asp) rs2128821512
NM_000162.5(GCK):c.623C>T (p.Ala208Val) rs746913146
NM_000162.5(GCK):c.629T>C (p.Met210Thr) rs80356654
NM_000162.5(GCK):c.666del (p.Gly223fs) rs2096278285
NM_000162.5(GCK):c.688T>C (p.Cys230Arg) rs794727839
NM_000162.5(GCK):c.730G>A (p.Val244Met) rs1240035630
NM_000162.5(GCK):c.736G>A (p.Gly246Arg) rs2096275721
NM_000162.5(GCK):c.737G>A (p.Gly246Glu) rs1583596522
NM_000162.5(GCK):c.737G>C (p.Gly246Ala) rs1583596522
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000162.5(GCK):c.758T>C (p.Val253Ala) rs193921400
NM_000162.5(GCK):c.835G>C (p.Glu279Gln) rs104894005
NM_000162.5(GCK):c.883G>A (p.Gly295Ser) rs1554334905
NM_000162.5(GCK):c.904G>C (p.Val302Leu) rs1583594501
NM_000162.5(GCK):c.952G>A (p.Gly318Arg) rs193922340
NM_000162.5(GCK):c.971T>C (p.Leu324Pro) rs193922341
NM_000162.5(GCK):c.98T>C (p.Val33Ala) rs1554335954
NM_000166.6(GJB1):c.-17G>A rs879254047
NM_000166.6(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_000166.6(GJB1):c.147T>C (p.Ser49=) rs2092542885
NM_000166.6(GJB1):c.148T>C (p.Ser50Pro) rs913934445
NM_000166.6(GJB1):c.151T>C (p.Phe51Leu) rs876661269
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.6(GJB1):c.175G>C (p.Gly59Arg) rs1555937077
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg) rs879254097
NM_000166.6(GJB1):c.386G>A (p.Gly129Glu) rs1602349280
NM_000166.6(GJB1):c.478T>C (p.Tyr160His) rs1555937197
NM_000166.6(GJB1):c.540C>G (p.Phe180Leu) rs771022595
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000166.6(GJB1):c.559A>G (p.Lys187Glu) rs1555937244
NM_000166.6(GJB1):c.563CCGTCTTCA[1] (p.188TVF[1]) rs116840823
NM_000166.6(GJB1):c.807_808del (p.Ala271fs) rs1602350012
NM_000170.3(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000193.4(SHH):c.*2871T>G
NM_000207.3(INS):c.130_144del (p.Gly44_Phe48del) rs1554920854
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000209.4(PDX1):c.217dup (p.Leu73fs) rs1445970498
NM_000209.4(PDX1):c.312C>T (p.Ala104=) rs535722487
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) rs193922357
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr) rs192902098
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala) rs192902098
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000232.5(SGCB):c.430-5dup rs762831481
NM_000232.5(SGCB):c.9_14dup (p.Ala8_Ala9dup) rs886044103
NM_000233.4(LHCGR):c.1733A>C (p.Asp578Ala) rs121912518
NM_000233.4(LHCGR):c.50_55dup (p.Gln18_Pro19insLeuGln) rs71245621
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698
NM_000238.4(KCNH2):c.77-5C>G rs72549419
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.2759G>T (p.Arg920Leu) rs565162134
NM_000260.4(MYO7A):c.93C>T (p.Cys31=) rs35689081
NM_000287.4(PEX6):c.1338_1339del (p.Ala447fs) rs398123303
NM_000287.4(PEX6):c.235G>C (p.Ala79Pro) rs61752141
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup) rs750077647
NM_000297.4(PKD2):c.710-2A>G rs2110104722
NM_000297.4(PKD2):c.843G>A (p.Lys281=) rs1727333486
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro) rs1555565276
NM_000304.4(PMP22):c.396C>A (p.Tyr132Ter)
NM_000304.4(PMP22):c.434del (p.Leu145fs) rs863225029
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg) rs906563423
NM_000314.8(PTEN):c.885_886del (p.Leu295_Cys296insTer) rs1564568350
NM_000334.4(SCN4A):c.1173del (p.Phe392fs) rs1235665641
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000334.4(SCN4A):c.2411C>T (p.Ser804Phe) rs121908546
NM_000334.4(SCN4A):c.3893T>G (p.Phe1298Cys) rs886043595
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000334.4(SCN4A):c.4343G>T (p.Arg1448Leu) rs121908545
NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His) rs748517635
NM_000334.4(SCN4A):c.4605G>C (p.Ser1535=) rs182438287
NM_000334.4(SCN4A):c.483-5C>A rs191547933
NM_000334.4(SCN4A):c.483-9C>A rs201552497
NM_000334.4(SCN4A):c.5104GAG[1] (p.Glu1703del) rs1464481652
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile) rs1064794243
NM_000334.4(SCN4A):c.644T>C (p.Ile215Thr) rs1555604867
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.3388-10_3388-9del rs2061494723
NM_000335.5(SCN5A):c.393-5C>T rs368678204
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000336.3(SCNN1B):c.1789del (p.Arg597fs) rs758629218
NM_000336.3(SCNN1B):c.1789dup (p.Arg597fs) rs758629218
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000338.3(SLC12A1):c.2869dup (p.Ile957fs) rs764247288
NM_000344.4(SMN1):c.419A>T (p.Asp140Val) rs1554081968
NM_000344.4(SMN1):c.584del (p.Pro195fs) rs1561499748
NM_000344.4(SMN1):c.818A>T (p.His273Leu) rs1554082114
NM_000344.4(SMN1):c.821C>T (p.Thr274Ile) rs1554066666
NM_000344.4(SMN1):c.93_96dup (p.Ile33Ter) rs1554081950
NM_000352.6(ABCC8):c.1421A>G (p.Gln474Arg) rs1591834223
NM_000352.6(ABCC8):c.1818-7del rs1955709311
NM_000352.6(ABCC8):c.2041-12C>T rs201419039
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=) rs371089976
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg) rs925231098
NM_000352.6(ABCC8):c.4613G>A (p.Arg1538Gln) rs1564869850
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000368.5(TSC1):c.915G>C (p.Gly305=) rs397515293
NM_000371.4(TTR):c.193G>A (p.Ala65Thr) rs121918078
NM_000371.4(TTR):c.194C>T (p.Ala65Val) rs730881169
NM_000371.4(TTR):c.220G>C (p.Glu74Gln) rs1555631393
NM_000371.4(TTR):c.221A>G (p.Glu74Gly) rs1598845097
NM_000371.4(TTR):c.326A>T (p.Glu109Val) rs2073511444
NM_000371.4(TTR):c.337-14_337-11del rs112263266
NM_000371.4(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520
NM_000388.4(CASR):c.101T>C (p.Leu34Pro) rs1559955362
NM_000388.4(CASR):c.1250C>G (p.Ser417Cys) rs1576859379
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln) rs104893716
NM_000388.4(CASR):c.1664T>C (p.Ile555Thr) rs1576875819
NM_000388.4(CASR):c.1901T>C (p.Phe634Ser) rs2107649591
NM_000388.4(CASR):c.2039G>A (p.Arg680His) rs773146939
NM_000388.4(CASR):c.2045C>T (p.Pro682Leu) rs1553768989
NM_000388.4(CASR):c.2065G>A (p.Val689Met) rs2107649885
NM_000388.4(CASR):c.3234A>T (p.Ser1078=) rs556263764
NM_000388.4(CASR):c.372C>A (p.Asn124Lys) rs757571398
NM_000388.4(CASR):c.488C>G (p.Pro163Arg) rs2107627915
NM_000388.4(CASR):c.518T>C (p.Leu173Pro) rs2107631736
NM_000388.4(CASR):c.61G>A (p.Gly21Arg) rs1064794290
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys) rs2074624616
NM_000388.4(CASR):c.679C>T (p.Arg227Ter) rs1085307984
NM_000388.4(CASR):c.680G>A (p.Arg227Gln) rs28936684
NM_000399.5(EGR2):c.910GCC[7] (p.Ala309dup) rs753747037
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser) rs35065563
NM_000426.4(LAMA2):c.5072-6del rs398123376
NM_000426.4(LAMA2):c.8244+3_8244+6del rs746678525
NM_000435.3(NOTCH3):c.1019G>A (p.Cys340Tyr)
NM_000435.3(NOTCH3):c.1135T>G (p.Cys379Gly) rs1555729105
NM_000435.3(NOTCH3):c.1144G>T (p.Gly382Cys) rs2145437046
NM_000435.3(NOTCH3):c.1268A>G (p.Tyr423Cys) rs1555729064
NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys) rs1599391536
NM_000435.3(NOTCH3):c.1304G>A (p.Cys435Tyr) rs2145436195
NM_000435.3(NOTCH3):c.1305T>G (p.Cys435Trp) rs2046907170
NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys) rs762734007
NM_000435.3(NOTCH3):c.1363T>C (p.Cys455Arg) rs28933698
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr) rs886041513
NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly) rs1555730197
NM_000435.3(NOTCH3):c.1512T>G (p.Cys504Trp) rs2046897516
NM_000435.3(NOTCH3):c.1531T>A (p.Cys511Ser) rs2046897246
NM_000435.3(NOTCH3):c.1531T>C (p.Cys511Arg)
NM_000435.3(NOTCH3):c.1565G>C (p.Cys522Ser) rs2046896882
NM_000435.3(NOTCH3):c.1566C>G (p.Cys522Trp) rs1193624610
NM_000435.3(NOTCH3):c.1620G>T (p.Thr540=) rs75617410
NM_000435.3(NOTCH3):c.164G>A (p.Cys55Tyr) rs1555730188
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000435.3(NOTCH3):c.1725G>C (p.Thr575=) rs79926127
NM_000435.3(NOTCH3):c.1756T>C (p.Cys586Arg) rs2512657590
NM_000435.3(NOTCH3):c.1759C>T (p.Arg587Cys) rs754554486
NM_000435.3(NOTCH3):c.1774C>T (p.Arg592Cys) rs764148985
NM_000435.3(NOTCH3):c.1790G>A (p.Cys597Tyr) rs2046888772
NM_000435.3(NOTCH3):c.1816T>C (p.Cys606Arg) rs1568359346
NM_000435.3(NOTCH3):c.1849T>C (p.Cys617Arg) rs2145432499
NM_000435.3(NOTCH3):c.1871G>A (p.Cys624Tyr) rs758997426
NM_000435.3(NOTCH3):c.194G>A (p.Cys65Tyr) rs1555730176
NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser) rs1555730176
NM_000435.3(NOTCH3):c.1999G>T (p.Gly667Cys) rs376046941
NM_000435.3(NOTCH3):c.200G>T (p.Cys67Phe) rs1555729615
NM_000435.3(NOTCH3):c.212_229dup (p.Cys76_Gln77insArgValGlyGluArgCys) rs2145443744
NM_000435.3(NOTCH3):c.244T>G (p.Cys82Gly) rs2046937845
NM_000435.3(NOTCH3):c.245G>T (p.Cys82Phe) rs1023306013
NM_000435.3(NOTCH3):c.2951T>G (p.Phe984Cys) rs995523352
NM_000435.3(NOTCH3):c.2953C>T (p.Arg985Cys) rs1188569102
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg) rs1599382214
NM_000435.3(NOTCH3):c.3044G>T (p.Cys1015Phe) rs1555727938
NM_000435.3(NOTCH3):c.3064T>A (p.Cys1022Ser) rs2046833026
NM_000435.3(NOTCH3):c.3091C>T (p.Arg1031Cys) rs1285584068
NM_000435.3(NOTCH3):c.3182G>A (p.Cys1061Tyr) rs1064794216
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) rs1555727841
NM_000435.3(NOTCH3):c.349T>G (p.Cys117Gly) rs1555729554
NM_000435.3(NOTCH3):c.391G>A (p.Gly131Ser) rs767150916
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.4039G>C (p.Gly1347Arg) rs1344432803
NM_000435.3(NOTCH3):c.436T>C (p.Cys146Arg) rs1555729510
NM_000435.3(NOTCH3):c.449A>G (p.Tyr150Cys) rs2145442191
NM_000435.3(NOTCH3):c.4627C>A (p.Leu1543Met) rs111838442
NM_000435.3(NOTCH3):c.4899G>A (p.Pro1633=) rs200797732
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000435.3(NOTCH3):c.548G>T (p.Cys183Phe) rs1568361851
NM_000435.3(NOTCH3):c.554G>T (p.Cys185Phe) rs1555729477
NM_000435.3(NOTCH3):c.5668-9C>G rs375464998
NM_000435.3(NOTCH3):c.602G>A (p.Cys201Tyr) rs1555729468
NM_000435.3(NOTCH3):c.602G>C (p.Cys201Ser) rs1555729468
NM_000435.3(NOTCH3):c.6464G>A (p.Gly2155Glu)
NM_000435.3(NOTCH3):c.665G>A (p.Cys222Tyr) rs1555729452
NM_000435.3(NOTCH3):c.6850A>T (p.Thr2284Ser) rs1177268940
NM_000435.3(NOTCH3):c.719G>A (p.Cys240Tyr) rs1599394351
NM_000435.3(NOTCH3):c.733T>A (p.Cys245Ser)
NM_000435.3(NOTCH3):c.773A>G (p.Tyr258Cys) rs947976672
NM_000435.3(NOTCH3):c.953G>A (p.Cys318Tyr) rs1568361404
NM_000435.3(NOTCH3):c.986G>A (p.Cys329Tyr) rs2046925963
NM_000444.6(PHEX):c.1482+1G>A rs1064793228
NM_000444.6(PHEX):c.1768+5G>A rs1057524608
NM_000444.6(PHEX):c.1960T>A (p.Phe654Ile) rs1935508894
NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro) rs63749851
NM_000451.4(SHOX):c.144G>A (p.Glu48=) rs750638027
NM_000451.4(SHOX):c.279G>T (p.Gly93=) rs193922465
NM_000451.4(SHOX):c.486+8C>G rs374705909
NM_000451.4(SHOX):c.85AAG[1] (p.Lys30del) rs776789883
NM_000454.5(SOD1):c.115C>G (p.Leu39Val) rs121912432
NM_000454.5(SOD1):c.425G>C (p.Gly142Ala) rs1568811489
NM_000454.5(SOD1):c.50G>C (p.Gly17Ala) rs1200906022
NM_000458.4(HNF1B):c.1207-7C>T rs1215174368
NM_000458.4(HNF1B):c.1389C>T (p.Ala463=) rs761684626
NM_000458.4(HNF1B):c.494G>A (p.Arg165His) rs121918675
NM_000458.4(HNF1B):c.657C>T (p.Ser219=) rs148713761
NM_000458.4(HNF1B):c.704G>A (p.Arg235Gln) rs2033752564
NM_000458.4(HNF1B):c.884G>A (p.Arg295His) rs886043813
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000478.6(ALPL):c.335_340dup (p.Gly112_Thr113dup) rs931041761
NM_000478.6(ALPL):c.522del (p.Ser175fs) rs750174638
NM_000484.4(APP):c.819CAC[6] (p.Thr280del) rs527890624
NM_000486.6(AQP2):c.97_119del (p.Asn33fs) rs772201159
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.6(ATRX):c.4353GGA[2] (p.Glu1464del) rs782630348
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del) rs398123423
NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000497.4(CYP11B1):c.1266C>T (p.Arg422=) rs4998902
NM_000497.4(CYP11B1):c.240-18_240-17delinsAA rs1586561494
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=) rs753774484
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000500.9(CYP21A2):c.318G>A (p.Pro106=) rs6455
NM_000500.9(CYP21A2):c.552C>G (p.Asp184Glu) rs397515531
NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser) rs201552310
NM_000515.5(GH1):c.-4T>G rs6173
NM_000515.5(GH1):c.7A>G (p.Thr3Ala) rs2001345
NM_000525.4(KCNJ11):c.148C>T (p.Arg50Trp) rs1221366142
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000530.8(MPZ):c.106A>T (p.Arg36Trp) rs864622732
NM_000530.8(MPZ):c.176C>T (p.Ser59Leu) rs879254297
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys) rs879254038
NM_000530.8(MPZ):c.388A>G (p.Lys130Glu) rs2526238022
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.410G>T (p.Gly137Val) rs863225025
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) rs1553259643
NM_000530.8(MPZ):c.94G>T (p.Val32Phe) rs1034932344
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=) rs2229145
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.3(RYR1):c.10627-1G>C rs1568539909
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp) rs559581937
NM_000540.3(RYR1):c.6707T>G (p.Leu2236Arg) rs1969830618
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.3(RYR1):c.7584C>T (p.Pro2528=) rs1465698
NM_000540.3(RYR1):c.7879G>A (p.Val2627Met) rs914804033
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro) rs756870293
NM_000540.3(RYR1):c.9149T>A (p.Val3050Asp) rs1157851269
NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp) rs193922598
NM_000545.8(HNF1A):c.1108G>T (p.Val370Phe) rs2135845768
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr) rs754729248
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His) rs371717826
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu) rs193922580
NM_000545.8(HNF1A):c.1502-19CT[2] rs753496283
NM_000545.8(HNF1A):c.1781G>T (p.Ser594Ile) rs2135854451
NM_000545.8(HNF1A):c.369GCA[4] (p.Gln125dup) rs193922596
NM_000545.8(HNF1A):c.526+5_526+8del rs2135833007
NM_000545.8(HNF1A):c.608G>T (p.Arg203Leu) rs587780357
NM_000545.8(HNF1A):c.620G>A (p.Gly207Asp) rs1555211922
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met) rs886039544
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del) rs1288094664
NM_000545.8(HNF1A):c.864del (p.Pro291fs) rs762703502
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg) rs137854298
NM_000548.5(TSC2):c.1362-10C>A rs45446697
NM_000548.5(TSC2):c.138+2T>C rs137854226
NM_000548.5(TSC2):c.1869C>T (p.Ala623=) rs111244727
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser) rs397515077
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val) rs137854155
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro) rs45491698
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu) rs45462194
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000548.5(TSC2):c.4087G>A (p.Val1363Ile) rs751203255
NM_000548.5(TSC2):c.4107G>C (p.Arg1369=) rs201688447
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.4569+1G>A rs1060500972
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter) rs45517414
NM_000548.5(TSC2):c.5259+1del rs137854317
NM_000548.5(TSC2):c.5397G>A (p.Ser1799=) rs1051771
NM_000551.4(VHL):c.278G>A (p.Gly93Asp) rs1553619440
NM_000551.4(VHL):c.335A>G (p.Tyr112Cys) rs869025633
NM_000702.4(ATP1A2):c.1091C>T (p.Thr364Met) rs1553244881
NM_000702.4(ATP1A2):c.1652-7C>A rs200102433
NM_000702.4(ATP1A2):c.788C>T (p.Thr263Met) rs777400961
NM_000720.4(CACNA1D):c.1208G>A (p.Gly403Asp) rs386834264
NM_000722.4(CACNA2D1):c.1956-12dup rs3083235
NM_000722.4(CACNA2D1):c.1956-4del rs3083235
NM_000726.5(CACNB4):c.1191G>A (p.Ala397=) rs369276166
NM_000726.5(CACNB4):c.222A>T (p.Arg74=) rs553682728
NM_000744.7(CHRNA4):c.681C>A (p.Ala227=) rs45588436
NM_000747.3(CHRNB1):c.823G>T (p.Glu275Ter) rs1908992563
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val) rs59443548
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001008212.2(OPTN):c.402C>A (p.Ala134=) rs113955718
NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg) rs1555446411
NM_001009944.3(PKD1):c.11316C>G (p.Ala3772=) rs201085734
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser) rs1303102528
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp) rs1555445740
NM_001009944.3(PKD1):c.11525G>A (p.Trp3842Ter) rs1596481464
NM_001009944.3(PKD1):c.11713-1G>A rs867092741
NM_001009944.3(PKD1):c.12003+14_12003+33del rs1567148835
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del) rs1555444468
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys) rs1282668884
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met) rs2855341
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg) rs58598099
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg) rs1555458704
NM_001009944.3(PKD1):c.1591G>A (p.Glu531Lys) rs1567215326
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.2180T>A (p.Leu727Gln) rs1616940
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2180T>G (p.Leu727Arg) rs1616940
NM_001009944.3(PKD1):c.2269C>T (p.Gln757Ter) rs775710328
NM_001009944.3(PKD1):c.288-11G>C rs750270591
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del) rs2092482302
NM_001009944.3(PKD1):c.4452G>A (p.Pro1484=) rs201988915
NM_001009944.3(PKD1):c.5976_5978del (p.Phe1992_Thr1993delinsLeu) rs2092438025
NM_001009944.3(PKD1):c.603C>T (p.His201=) rs13334842
NM_001009944.3(PKD1):c.6621C>G (p.Pro2207=) rs575553075
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu) rs1567191874
NM_001009944.3(PKD1):c.6827T>C (p.Leu2276Pro) rs1567191044
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp) rs151257298
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.8204A>T (p.Gln2735Leu) rs141717814
NM_001009944.3(PKD1):c.8218G>T (p.Gly2740Ter) rs1555451368
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro) rs1567177684
NM_001009944.3(PKD1):c.8666_8674del (p.Ser2889_Ala2891del) rs771434359
NM_001009944.3(PKD1):c.8672CCAACTCCG[1] (p.2891ANS[1]) rs763199524
NM_001009944.3(PKD1):c.8672CCAACTCCG[3] (p.2891ANS[3]) rs763199524
NM_001009944.3(PKD1):c.9568+1G>T rs2092046394
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys) rs1232180956
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met) rs775497330
NM_001029896.2(WDR45):c.436G>A (p.Gly146Arg) rs1569523500
NM_001032382.2(PQBP1):c.334_354del (p.Gly113_Arg119del) rs606231198
NM_001040142.2(SCN2A):c.2939C>G (p.Ala980Gly) rs1700069190
NM_001040142.2(SCN2A):c.4534C>T (p.Pro1512Ser) rs1558879940
NM_001040142.2(SCN2A):c.70G>A (p.Ala24Thr) rs527452801
NM_001042472.3(ABHD12):c.788-10_788-7del rs565270893
NM_001042492.3(NF1):c.1062G>C (p.Lys354Asn) rs1131691118
NM_001042492.3(NF1):c.288+4A>G rs781459468
NM_001042492.3(NF1):c.2991-1G>A rs1060500273
NM_001042492.3(NF1):c.3317A>G (p.Tyr1106Cys) rs1567850987
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001042492.3(NF1):c.7190-33TTGT[3] rs149197458
NM_001042492.3(NF1):c.7321+19_7321+22del rs528866152
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn) rs58447305
NM_001079872.2(CUL4B):c.1257-5T>C rs1569390976
NM_001080414.4(CCDC88C):c.5975_5976delinsCT (p.Leu1992Pro) rs1555413299
NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del) rs772766102
NM_001099922.3(ALG13):c.751-8_751-6del rs765948340
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu) rs886041309
NM_001101426.4(CRPPA):c.685-25GTT[6] rs142647500
NM_001101426.4(CRPPA):c.836-9del rs3839757
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=) rs372874251
NM_001110556.2(FLNA):c.4599-1G>A rs1057518223
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001113491.2(SEPTIN9):c.353_354delinsCC (p.Gln118Pro) rs1555659856
NM_001122659.3(EDNRB):c.778G>T (p.Val260Phe) rs77132068
NM_001122955.4(BSCL2):c.1006-8C>T rs1057521013
NM_001126108.2(SLC12A3):c.1176C>T (p.Thr392=) rs117440321
NM_001126108.2(SLC12A3):c.791= (p.Ala264=)
NM_001127222.2(CACNA1A):c.1198+1G>A rs1057518513
NM_001127222.2(CACNA1A):c.1500_1521del (p.Leu501fs) rs1555762855
NM_001127222.2(CACNA1A):c.1668+7G>A rs567507041
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg) rs2144980758
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.2737_2739delinsTCT (p.Pro913Ser) rs886043758
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=) rs16021
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4]) rs764399373
NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys) rs201311000
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg) rs200333359
NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.3946G>A (p.Asp1316Asn) rs1568485068
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln) rs121908230
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp) rs1555745461
NM_001127222.2(CACNA1A):c.4089+5_4089+6del rs368911651
NM_001127222.2(CACNA1A):c.4250G>A (p.Arg1417Gln) rs1568471977
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln) rs1568447650
NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln) rs121908211
NM_001127222.2(CACNA1A):c.6265C>A (p.Arg2089=) rs200093958
NM_001127222.2(CACNA1A):c.631+5G>A rs786200963
NM_001127222.2(CACNA1A):c.654G>C (p.Ser218=) rs201991581
NM_001127222.2(CACNA1A):c.7440C>G (p.His2480Gln) rs539546830
NM_001127222.2(CACNA1A):c.889G>A (p.Gly297Arg) rs1168625480
NM_001127644.2(GABRA1):c.857-2A>G rs1313965409
NM_001128840.3(CACNA1D):c.3279G>A (p.Ala1093=) rs36061665
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363
NM_001130438.3(SPTAN1):c.3580-5_3580-2del rs754528571
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=) rs72758823
NM_001130987.2(DYSF):c.1033+4A>T rs1397221551
NM_001130987.2(DYSF):c.1518C>T (p.Ile506=) rs34387018
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) rs756328339
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met) rs148858485
NM_001130987.2(DYSF):c.3859dup (p.Glu1287fs) rs779407815
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) rs786205084
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_001145809.2(MYH14):c.192G>T (p.Gly64=) rs181055215
NM_001159699.2(FHL1):c.737-3del rs368428875
NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del) rs572827902
NM_001161352.2(KCNMA1):c.117CTC[6] (p.Ser60del) rs572827902
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del) rs751901610
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del) rs1484259264
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup) rs760628050
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3]) rs757726895
NM_001164508.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn) rs796065338
NM_001164508.2(NEB):c.21546C>T (p.Asn7182=) rs149510427
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln) rs121918785
NM_001165963.4(SCN1A):c.264+5G>A rs794726762
NM_001165963.4(SCN1A):c.2946+4T>C rs1390205269
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=) rs1085307730
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3]) rs397516634
NM_001195553.2(DCX):c.304C>T (p.Arg102Cys) rs587783541
NM_001242896.3(DEPDC5):c.1291G>A (p.Ala431Thr) rs777844378
NM_001242896.3(DEPDC5):c.2055C>A (p.Phe685Leu) rs61731667
NM_001244008.2(KIF1A):c.204G>T (p.Ala68=) rs141052770
NM_001244008.2(KIF1A):c.2694C>G (p.Thr898=) rs555856342
NM_001244008.2(KIF1A):c.2721GGA[12] (p.Glu917dup) rs10594016
NM_001244008.2(KIF1A):c.2721GGA[9] (p.Glu916_Glu917del) rs10594016
NM_001244008.2(KIF1A):c.3132C>A (p.Ile1044=) rs373045276
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His) rs189626540
NM_001267550.2(TTN):c.101291C>T (p.Ala33764Val) rs773542514
NM_001267550.2(TTN):c.105787_105788delinsTT (p.Ala35263Phe) rs794729250
NM_001267550.2(TTN):c.106375-2A>G rs1553482872
NM_001267550.2(TTN):c.107377+1G>C rs112188483
NM_001267550.2(TTN):c.107456A>G (p.Gln35819Arg) rs1457427060
NM_001267550.2(TTN):c.13194A>G (p.Gln4398=) rs375347596
NM_001267550.2(TTN):c.14784C>A (p.Leu4928=) rs373875040
NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr) rs201744218
NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile) rs72648929
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.177C>A (p.Ser59Arg) rs191057824
NM_001267550.2(TTN):c.177C>T (p.Ser59=) rs191057824
NM_001267550.2(TTN):c.21489C>G (p.Thr7163=) rs376882041
NM_001267550.2(TTN):c.23023G>T (p.Asp7675Tyr) rs552951988
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) rs149523263
NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser) rs200972189
NM_001267550.2(TTN):c.31762+5_31762+7del rs397517538
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.36044C>T (p.Thr12015Met) rs199868380
NM_001267550.2(TTN):c.38660del (p.Lys12887fs) rs761617432
NM_001267550.2(TTN):c.38708-4T>C rs200819643
NM_001267550.2(TTN):c.38929C>T (p.Pro12977Ser) rs150223722
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg) rs72650066
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.43263G>A (p.Glu14421=) rs2059955751
NM_001267550.2(TTN):c.44210G>A (p.Arg14737His) rs373298007
NM_001267550.2(TTN):c.45053C>T (p.Ala15018Val) rs72677221
NM_001267550.2(TTN):c.45120T>G (p.Ile15040Met) rs74580375
NM_001267550.2(TTN):c.48161-4del rs730880371
NM_001267550.2(TTN):c.51273G>A (p.Arg17091=) rs532589236
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val) rs886042743
NM_001267550.2(TTN):c.56910C>T (p.Gly18970=) rs148299739
NM_001267550.2(TTN):c.5875T>A (p.Phe1959Ile) rs562856820
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu) rs72646843
NM_001267550.2(TTN):c.63329C>T (p.Ala21110Val) rs370687831
NM_001267550.2(TTN):c.66576C>A (p.Leu22192=) rs187378247
NM_001267550.2(TTN):c.68762C>T (p.Thr22921Ile) rs534567766
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu) rs372799151
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=) rs72646894
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del) rs543318580
NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu) rs199726308
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys) rs201489661
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys) rs55933739
NM_001267550.2(TTN):c.88112T>C (p.Ile29371Thr) rs767890385
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys) rs11887722
NM_001267550.2(TTN):c.93129C>T (p.Asp31043=) rs758336721
NM_001267550.2(TTN):c.96180T>C (p.Ile32060=) rs572401798
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_001267550.2(TTN):c.98171_98174dup (p.Ile32726fs) rs1275153634
NM_001267550.2(TTN):c.98994del (p.Lys32998fs) rs727504535
NM_001267550.2(TTN):c.99090T>C (p.Ile33030=)
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=) rs150268140
NM_001278064.2(GRM1):c.2375A>G (p.Tyr792Cys) rs1554308513
NM_001278064.2(GRM1):c.3138G>A (p.Pro1046=) rs1416889105
NM_001278064.2(GRM1):c.3213T>C (p.Pro1071=) rs1047006
NM_001278064.2(GRM1):c.885A>C (p.Thr295=) rs1383948929
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs) rs587777523
NM_001286445.3(RIPOR2):c.368C>A (p.Thr123Lys) rs145166802
NM_001291415.2(KDM6A):c.3811T>C (p.Trp1271Arg) rs2045816079
NM_001292063.2(OTOG):c.1042G>A (p.Ala348Thr) rs191354103
NM_001292063.2(OTOG):c.499del (p.Val167fs) rs876657657
NM_001330260.2(SCN8A):c.5943GAG[1] (p.Ter1981=) rs555793953
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001365999.1(SZT2):c.5517C>T (p.Arg1839=) rs147753139
NM_001367721.1(CASK):c.1669-7C>G rs780719523
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr) rs121908333
NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter) rs104894261
NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr) rs144693221
NM_001370298.3(FGD4):c.2298_2302dup (p.Gly768fs) rs751035912
NM_001370298.3(FGD4):c.376C>A (p.Pro126Thr) rs199744649
NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu) rs121918262
NM_001371596.2(MFSD8):c.415C>T (p.Arg139Cys) rs993001712
NM_001371623.1(TCOF1):c.827_844del (p.Gly276_Glu281del) rs528897827
NM_001372044.2(SHANK3):c.1530-280dup rs745950788
NM_001376.5(DYNC1H1):c.12192G>T (p.Thr4064=) rs114906811
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile) rs116207524
NM_001378452.1(ITPR1):c.-2A>G rs369723935
NM_001378452.1(ITPR1):c.1614G>A (p.Leu538=) rs1297659569
NM_001378452.1(ITPR1):c.3318C>G (p.Ala1106=) rs2094337722
NM_001378452.1(ITPR1):c.3705C>T (p.Ala1235=) rs34635052
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg) rs1553757628
NM_001378452.1(ITPR1):c.7793T>C (p.Ile2598Thr) rs1553758021
NM_001378969.1(KCND3):c.1051T>C (p.Phe351Leu) rs1064794895
NM_001378969.1(KCND3):c.1111G>A (p.Gly371Arg) rs1057521793
NM_001378969.1(KCND3):c.1150G>A (p.Gly384Ser) rs1664632655
NM_001378969.1(KCND3):c.1756C>G (p.Leu586Val) rs778053688
NM_001378969.1(KCND3):c.633G>T (p.Pro211=) rs35131566
NM_001378969.1(KCND3):c.957C>T (p.Ser319=) rs61733426
NM_001379110.1(SLC9A6):c.*5_*8delinsTT rs797044655
NM_001379200.1(TBX1):c.1380T>C (p.His460=) rs367711718
NM_001379500.1(COL18A1):c.1593del (p.Pro534fs) rs778909108
NM_001379500.1(COL18A1):c.1791TGGGCCCCC[1] (p.594PGP[3]) rs764710670
NM_001379500.1(COL18A1):c.2782G>C (p.Gly928Arg) rs187721798
NM_001384474.1(LOXHD1):c.4148C>T (p.Thr1383Met) rs7244681
NM_001458.5(FLNC):c.3489G>C (p.Pro1163=) rs369853278
NM_001458.5(FLNC):c.5427G>C (p.Thr1809=) rs774600814
NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg) rs770272088
NM_001540.5(HSPB1):c.318G>C (p.Pro106=) rs750349055
NM_001540.5(HSPB1):c.364+6C>G rs753061670
NM_001540.5(HSPB1):c.438dup (p.Gly147fs) rs747325717
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val) rs782217473
NM_001614.5(ACTG1):c.558C>T (p.Thr186=) rs142893042
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001845.6(COL4A1):c.2144G>A (p.Arg715His) rs199573161
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg) rs146134172
NM_001845.6(COL4A1):c.3326-13dup rs139122216
NM_001845.6(COL4A1):c.808-7C>A rs9588116
NM_001848.3(COL6A1):c.1814-6C>G rs182804464
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=) rs11554669
NM_001853.4(COL9A3):c.1816G>A (p.Ala606Thr) rs142792529
NM_001853.4(COL9A3):c.685-4G>T rs57739618
NM_001927.4(DES):c.1034T>C (p.Leu345Pro) rs57639980
NM_001927.4(DES):c.1346A>C (p.Lys449Thr) rs267607485
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001961.4(EEF2):c.1908C>G (p.Ala636=) rs139427550
NM_001961.4(EEF2):c.615C>A (p.Ile205=) rs375130935
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys) rs370057212
NM_002047.4(GARS1):c.1614-4G>A rs376324026
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe) rs1554337974
NM_002055.5(GFAP):c.1171+472G>A rs748860341
NM_002055.5(GFAP):c.197G>A (p.Arg66Gln) rs797044569
NM_002055.5(GFAP):c.462-8dup rs572562362
NM_002087.4(GRN):c.1072C>T (p.Gln358Ter) rs1555611293
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter) rs63751180
NM_002087.4(GRN):c.99C>T (p.Asp33=) rs63750742
NM_002206.3(ITGA7):c.1410-3del rs773251917
NM_002206.3(ITGA7):c.285G>T (p.Pro95=) rs17854601
NM_002303.6(LEPR):c.1968G>C (p.Lys656Asn) rs1805094
NM_002303.6(LEPR):c.2153A>G (p.Asn718Ser) rs1424702726
NM_002437.5(MPV17):c.405C>G (p.Tyr135Ter) rs774833271
NM_002693.2(POLG):c.125_139dup rs780010436
NM_002693.3(POLG):c.119GGC[4] (p.Arg42dup) rs761080016
NM_002693.3(POLG):c.126GCA[7] (p.Gln52_Gln55del) rs41550117
NM_002693.3(POLG):c.158_159delinsCT (p.Gln53Pro) rs1064795981
NM_002693.3(POLG):c.158_166del (p.Gln53_Gln55del) rs769735492
NM_002693.3(POLG):c.160C>T (p.Gln54Ter) rs774768199
NM_002693.3(POLG):c.1905G>A (p.Pro635=) rs550592814
NM_002693.3(POLG):c.1905G>T (p.Pro635=) rs550592814
NM_002693.3(POLG):c.2109C>T (p.Ala703=) rs2307429
NM_002693.3(POLG):c.2265+1G>A rs796052884
NM_002693.3(POLG):c.2287G>C (p.Gly763Arg) rs1567187837
NM_002693.3(POLG):c.2481-10A>C rs555280530
NM_002693.3(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.3(POLG):c.2994G>C (p.Ser998=) rs567030498
NM_002693.3(POLG):c.3294T>G (p.Asn1098Lys) rs374224714
NM_002693.3(POLG):c.3482+6C>T rs55779802
NM_002693.3(POLG):c.3573G>T (p.Lys1191Asn) rs1085307741
NM_002693.3(POLG):c.3700C>A (p.Arg1234=) rs144346886
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.3(POLG):c.856-17CTC[4] rs200056162
NM_002693.3(POLG):c.856-17CTC[6] rs200056162
NM_002693.3(POLG):c.970C>A (p.Pro324Thr) rs2307437
NM_002693.3(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_002693.3(POLG):c.975C>A (p.Pro325=) rs551973680
NM_002693.3(POLG):c.975C>G (p.Pro325=) rs551973680
NM_002739.5(PRKCG):c.1764+1G>A rs1406338491
NM_003042.4(SLC6A1):c.332G>A (p.Gly111Glu) rs1574892457
NM_003119.4(SPG7):c.1048C>A (p.Pro350Thr) rs199789849
NM_003119.4(SPG7):c.1931C>T (p.Thr644Ile) rs758702550
NM_003119.4(SPG7):c.976_987+3del rs878854606
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup) rs757679761
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro) rs1228791562
NM_003361.4(UMOD):c.610C>G (p.Arg204Gly) rs1567310019
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup) rs398123707
NM_003482.4(KMT2D):c.15555C>T (p.Phe5185=) rs575965702
NM_003482.4(KMT2D):c.7109G>C (p.Arg2370Pro) rs373234419
NM_003482.4(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser) rs398123761
NM_003611.3(OFD1):c.2052C>T (p.Ser684=) rs61742891
NM_003673.4(TCAP):c.472C>A (p.Arg158Ser) rs397516863
NM_003850.3(SUCLA2):c.-3_-2del rs570547911
NM_003896.4(ST3GAL5):c.124del (p.Cys42fs) rs777319882
NM_003900.5(SQSTM1):c.835GAG[1] (p.Glu280del) rs752009611
NM_003919.3(SGCE):c.1254-9_1254-7del rs201696689
NM_003919.3(SGCE):c.835_839del (p.Thr279fs) rs863223283
NM_004004.6(GJB2):c.139G>A (p.Glu47Lys) rs104894398
NM_004004.6(GJB2):c.187G>T (p.Val63Leu) rs370696868
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.576del (p.Val193fs) rs747847191
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004006.3(DMD):c.1653G>A (p.Trp551Ter) rs1060502629
NM_004006.3(DMD):c.2623-3C>G rs863224988
NM_004006.3(DMD):c.3276+1G>C rs398123934
NM_004006.3(DMD):c.3603+2_3603+3insTA rs1603633860
NM_004006.3(DMD):c.8757C>T (p.Asn2919=) rs753234741
NM_004006.3(DMD):c.932A>G (p.Asp311Gly) rs760932600
NM_004006.3(DMD):c.94-9dup rs3834997
NM_004082.5(DCTN1):c.2432C>G (p.Pro811Arg) rs150928856
NM_004082.5(DCTN1):c.279+1G>T rs1393363759
NM_004082.5(DCTN1):c.627G>T (p.Pro209=) rs147673066
NM_004092.4(ECHS1):c.410_411del (p.Tyr137fs) rs777218310
NM_004092.4(ECHS1):c.412G>A (p.Ala138Thr) rs2493842342
NM_004098.4(EMX2):c.161CCG[4] (p.Ala58_Ala59del) rs756693906
NM_004115.4(FGF14):c.564del (p.Thr190fs) rs2035456443
NM_004115.4(FGF14):c.693G>A (p.Ala231=) rs34397704
NM_004115.4(FGF14):c.693G>T (p.Ala231=) rs34397704
NM_004172.5(SLC1A3):c.168C>T (p.Thr56=) rs751614772
NM_004187.5(KDM5C):c.2517-9_2517-7dup rs398124111
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727
NM_004287.5(GOSR2):c.7C>A (p.Pro3Thr) rs12944167
NM_004320.6(ATP2A1):c.2464dup (p.Arg822fs) rs751365374
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser) rs77181645
NM_004463.3(FGD1):c.1637-10A>G
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004562.3(PRKN):c.245C>A (p.Ala82Glu) rs55774500
NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup) rs11466445
NM_004646.4(NPHS1):c.3024A>G (p.Arg1008=) rs1131691606
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) rs34982899
NM_004738.5(VAPB):c.476CTT[1] (p.Ser160del) rs566283411
NM_004820.5(CYP7B1):c.59C>T (p.Pro20Leu) rs537303950
NM_004960.3(FUS):c.515_523+3del
NM_004960.4(FUS):c.1394-2del rs1555509569
NM_004960.4(FUS):c.669CGG[4] (p.Gly230_Gly231del) rs72550890
NM_004960.4(FUS):c.669CGG[7] (p.Gly231dup) rs72550890
NM_004975.4(KCNB1):c.1880G>A (p.Arg627Gln) rs754927664
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del) rs747618525
NM_004977.3(KCNC3):c.1760C>T (p.Pro587Leu) rs554197864
NM_004984.4(KIF5A):c.1362+7G>A rs1349376862
NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys) rs121434443
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys) rs121434442
NM_005022.4(PFN1):c.350_351delinsGT (p.Glu117Gly) rs1597686012
NM_005045.4(RELN):c.-24GGC[9] (p.Met1_Glu2insGly) rs55656324
NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser) rs73714410
NM_005271.5(GLUD1):c.1403-11dup rs550609501
NM_005413.4(SIX3):c.187GGC[8] (p.Gly69dup) rs555285206
NM_005445.4(SMC3):c.1410-6_1410-3del rs546049291
NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln) rs78944354
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
NM_005529.7(HSPG2):c.5925G>A (p.Leu1975=) rs1639253483
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) rs150129885
NM_005529.7(HSPG2):c.7209C>T (p.Gly2403=) rs770212594
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu) rs147114700
NM_005529.7(HSPG2):c.9329-8_9329-7delinsTT rs386629395
NM_005591.4(MRE11):c.1811G>A (p.Arg604His) rs148637964
NM_005591.4(MRE11):c.1811G>C (p.Arg604Pro) rs148637964
NM_005591.4(MRE11):c.315-14dup rs35062043
NM_005629.4(SLC6A8):c.945_949del (p.Phe315fs) rs1603216806
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser) rs150796527
NM_006158.5(NEFL):c.338_339delinsCC (p.Gln113Pro) rs1554497641
NM_006158.5(NEFL):c.794A>G (p.Tyr265Cys) rs587777880
NM_006308.3(HSPB3):c.347G>A (p.Arg116Gln) rs150931007
NM_006415.4(SPTLC1):c.452G>T (p.Arg151Leu) rs45461899
NM_006516.4(SLC2A1):c.1023C>T (p.Leu341=) rs143588685
NM_006516.4(SLC2A1):c.1408G>C (p.Gly470Arg) rs572648977
NM_006516.4(SLC2A1):c.679+7G>C rs13306757
NM_006767.4(LZTR1):c.628dup (p.Arg210fs) rs1457594219
NM_006790.3(MYOT):c.1275A>G (p.Ala425=) rs140678912
NM_006790.3(MYOT):c.343G>A (p.Ala115Thr) rs114194130
NM_006796.3(AFG3L2):c.1064C>T (p.Thr355Met) rs1057522195
NM_006796.3(AFG3L2):c.1167C>T (p.Val389=) rs1282576516
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr) rs1598820805
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe) rs117182113
NM_006922.4(SCN3A):c.4983G>C (p.Leu1661=) rs1018125027
NM_006946.4(SPTBN2):c.1351-7G>A rs116078747
NM_006946.4(SPTBN2):c.1351-7G>T rs116078747
NM_006946.4(SPTBN2):c.1827G>T (p.Pro609=) rs776570497
NM_006946.4(SPTBN2):c.2771C>A (p.Pro924Gln) rs147327184
NM_006946.4(SPTBN2):c.3057T>A (p.Thr1019=) rs141552726
NM_006946.4(SPTBN2):c.4944G>A (p.Ala1648=) rs371267330
NM_006946.4(SPTBN2):c.5475G>A (p.Pro1825=) rs34806527
NM_006946.4(SPTBN2):c.5681G>A (p.Gly1894Glu) rs148293687
NM_006946.4(SPTBN2):c.6502-5C>A rs549378554
NM_006946.4(SPTBN2):c.6735C>T (p.Asn2245=) rs750664912
NM_006946.4(SPTBN2):c.753C>A (p.Thr251=) rs1941995388
NM_007078.3(LDB3):c.465C>T (p.Leu155=) rs45516997
NM_007126.5(VCP):c.476G>A (p.Arg159His) rs121909335
NM_007126.5(VCP):c.478G>C (p.Ala160Pro) rs1554668805
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334
NM_007217.4(PDCD10):c.150+1G>A rs1553762839
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln) rs376854895
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser) rs80356734
NM_012210.4(TRIM32):c.1710G>A (p.Ser570=) rs555217187
NM_012233.3(RAB3GAP1):c.18+4A>G rs550325115
NM_013275.6(ANKRD11):c.3045C>G (p.Pro1015=) rs150652124
NM_013275.6(ANKRD11):c.5413G>A (p.Val1805Ile) rs151288302
NM_013275.6(ANKRD11):c.6597C>G (p.Leu2199=) rs762643863
NM_013275.6(ANKRD11):c.6977C>G (p.Ala2326Gly) rs576742682
NM_013296.5(GPSM2):c.1472G>C (p.Gly491Ala) rs147906282
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_014053.4(FLVCR1):c.1500G>A (p.Trp500Ter) rs2464500607
NM_014053.4(FLVCR1):c.93T>C (p.Val31=)
NM_014141.6(CNTNAP2):c.2136C>T (p.Asn712=) rs187552025
NM_014141.6(CNTNAP2):c.3193C>A (p.Leu1065Ile) rs146225600
NM_014141.6(CNTNAP2):c.3716-17TCTT[3] rs142426153
NM_014208.3(DSPP):c.3724_3741dup (p.1236DSS[6]) rs780050498
NM_014231.5(VAMP1):c.66del (p.Gly23fs) rs750911197
NM_014363.6(SACS):c.10158A>G (p.Ala3386=) rs775633710
NM_014363.6(SACS):c.10291G>A (p.Val3431Ile) rs144179865
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu) rs148286091
NM_014363.6(SACS):c.1066A>G (p.Ile356Val) rs148286091
NM_014363.6(SACS):c.10765A>G (p.Ile3589Val) rs747920603
NM_014363.6(SACS):c.10939G>T (p.Glu3647Ter) rs1156566314
NM_014363.6(SACS):c.11109C>T (p.Ser3703=) rs1883570677
NM_014363.6(SACS):c.11296G>A (p.Val3766Ile) rs200930332
NM_014363.6(SACS):c.12533C>T (p.Pro4178Leu) rs376168781
NM_014363.6(SACS):c.12618T>C (p.Ile4206=) rs1883457103
NM_014363.6(SACS):c.12839del (p.Phe4280fs) rs1197238841
NM_014363.6(SACS):c.2182C>G (p.Arg728Gly) rs752059006
NM_014363.6(SACS):c.247T>C (p.Leu83=) rs1470292816
NM_014363.6(SACS):c.2713A>T (p.Lys905Ter) rs1593133714
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser) rs139993038
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.6(SACS):c.3427C>G (p.Gln1143Glu) rs144267558
NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu) rs797045938
NM_014363.6(SACS):c.477C>T (p.Tyr159=) rs1870531490
NM_014363.6(SACS):c.5188A>C (p.Ser1730Arg) rs760926837
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter) rs1868872666
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg) rs758570844
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs) rs1555251539
NM_014363.6(SACS):c.744A>G (p.Ala248=) rs1448438600
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu) rs34928783
NM_014363.6(SACS):c.8238_8239dup (p.Ile2747fs) rs779248938
NM_014363.6(SACS):c.8385dup (p.Asp2796fs) rs2542218493
NM_014363.6(SACS):c.8793dup (p.Arg2932fs) rs767871841
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu) rs569955570
NM_014625.4(NPHS2):c.304G>A (p.Glu102Lys) rs1553315157
NM_014625.4(NPHS2):c.451+9dup rs542240453
NM_014795.4(ZEB2):c.3067+6A>T rs143450927
NM_014845.6(FIG4):c.1666dup (p.Thr556fs) rs772320287
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_014845.6(FIG4):c.2547-5T>G rs200267243
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe) rs80338867
NM_014855.3(AP5Z1):c.1315C>T (p.Leu439=) rs113014863
NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln) rs186003800
NM_014855.3(AP5Z1):c.1794C>T (p.Ala598=) rs374673921
NM_014855.3(AP5Z1):c.2305A>G (p.Thr769Ala) rs188569082
NM_014855.3(AP5Z1):c.80_83delinsTGCTGTAAACTGTAACTGTAAA (p.Arg27_Ile28delinsLeuLeuTer) rs397704705
NM_014874.4(MFN2):c.1085C>G (p.Thr362Arg) rs387906991
NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln) rs879254011
NM_014874.4(MFN2):c.1126A>G (p.Met376Val) rs863224967
NM_014874.4(MFN2):c.1127T>C (p.Met376Thr) rs1569854342
NM_014874.4(MFN2):c.1148C>T (p.Ala383Val) rs794727035
NM_014874.4(MFN2):c.1252C>T (p.Arg418Ter) rs1057517987
NM_014874.4(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.4(MFN2):c.239G>T (p.Gly80Val) rs139827903
NM_014874.4(MFN2):c.382C>T (p.His128Tyr) rs2100822486
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_014946.4(SPAST):c.1173+1G>A rs1060502226
NM_014946.4(SPAST):c.1174G>C (p.Ala392Pro) rs1558331867
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu) rs1553317025
NM_014946.4(SPAST):c.1206CTT[1] (p.Phe404del) rs1553317028
NM_014946.4(SPAST):c.1209_1212del (p.Phe403fs) rs1553317029
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_014946.4(SPAST):c.1413+6T>C rs1553318284
NM_014946.4(SPAST):c.1450G>C (p.Gly484Arg) rs1553318317
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp) rs864622179
NM_014946.4(SPAST):c.1730T>G (p.Met577Arg) rs1553321196
NM_014946.4(SPAST):c.1774del (p.Lys591_Ile592insTer) rs1680185365
NM_014946.4(SPAST):c.1785C>A (p.Ser595Arg) rs145206063
NM_014946.4(SPAST):c.334G>T (p.Glu112Ter) rs1553394603
NM_014946.4(SPAST):c.586+9_586+12del rs554544808
NM_014946.4(SPAST):c.911dup (p.Thr305fs) rs1553315188
NM_015046.7(SETX):c.3057TGA[5] (p.Asp1024del) rs572772837
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup) rs572772837
NM_015046.7(SETX):c.3651G>T (p.Thr1217=) rs111419285
NM_015046.7(SETX):c.4020_4022del (p.Lys1341del) rs769558791
NM_015046.7(SETX):c.5375-18CTT[2] rs201317659
NM_015046.7(SETX):c.7200-10dup rs531485265
NM_015046.7(SETX):c.7200-11_7200-10del rs531485265
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015346.4(ZFYVE26):c.2067C>T (p.Leu689=) rs141880939
NM_015346.4(ZFYVE26):c.3210C>G (p.Pro1070=) rs7156492
NM_015346.4(ZFYVE26):c.4197C>T (p.Thr1399=) rs35018134
NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr) rs2235967
NM_015346.4(ZFYVE26):c.443G>C (p.Arg148Pro) rs144919978
NM_015346.4(ZFYVE26):c.7041C>A (p.Cys2347Ter) rs370837940
NM_015404.4(WHRN):c.2644C>T (p.Arg882Cys) rs150586098
NM_015443.4(KANSL1):c.680G>A (p.Ser227Asn) rs150345690
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_015915.5(ATL1):c.1244G>A (p.Arg415Gln) rs397514712
NM_016156.6(MTMR2):c.1770+7_1770+19delinsC rs1555056865
NM_016156.6(MTMR2):c.56C>T (p.Pro19Leu) rs574213477
NM_016341.4(PLCE1):c.1927G>T (p.Ala643Ser) rs61886330
NM_016341.4(PLCE1):c.2032A>G (p.Met678Val) rs201422605
NM_016341.4(PLCE1):c.6853GAG[1] (p.Glu2286del) rs771798085
NM_016373.4(WWOX):c.1239C>T (p.Ser413=) rs199576434
NM_016373.4(WWOX):c.562C>A (p.Arg188Ser) rs199511589
NM_017739.4(POMGNT1):c.251G>A (p.Arg84His) rs373866304
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018075.5(ANO10):c.1260C>T (p.Ala420=) rs1365986557
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018075.5(ANO10):c.159A>G (p.Arg53=) rs533186096
NM_018075.5(ANO10):c.628C>T (p.Leu210=) rs780192694
NM_018075.5(ANO10):c.946C>T (p.Leu316=) rs2149402360
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp) rs3804506
NM_018136.5(ASPM):c.3566C>T (p.Ser1189Phe) rs143805893
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del) rs587783241
NM_018319.4(TDP1):c.341_342del (p.Lys114fs) rs769278668
NM_018847.4(KLHL9):c.933G>C (p.Leu311=) rs369605312
NM_020247.5(COQ8A):c.1792dup (p.Arg598fs) rs2528412329
NM_020247.5(COQ8A):c.1800C>G (p.Val600=) rs74589348
NM_020247.5(COQ8A):c.1805C>T (p.Pro602Leu) rs61995958
NM_020247.5(COQ8A):c.1821C>A (p.Tyr607Ter) rs201618750
NM_020247.5(COQ8A):c.1936C>A (p.Gln646Lys) rs555171534
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr) rs376462712
NM_020320.5(RARS2):c.-2A>G rs201150141
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr) rs1424788778
NM_020919.4(ALS2):c.1816-10G>T rs191447972
NM_020919.4(ALS2):c.2491_2499del (p.Glu831_Leu833del) rs773628251
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del) rs747975797
NM_021072.4(HCN1):c.203GCG[5] (p.Gly73_Gly74del) rs747975797
NM_021098.3(CACNA1H):c.4223+8dup rs545116263
NM_021098.3(CACNA1H):c.4929+8C>T rs59027578
NM_021625.5(TRPV4):c.1337G>T (p.Arg446Leu) rs143502097
NM_021625.5(TRPV4):c.396G>A (p.Pro132=) rs114101785
NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln) rs397514494
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro) rs758026634
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=) rs111033487
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_022173.4(TIA1):c.223-3del rs750862626
NM_022489.4(INF2):c.1582C>T (p.Pro528Ser) rs181694819
NM_022772.4(EPS8L2):c.1413G>A (p.Pro471=) rs369906914
NM_024009.3(GJB3):c.196_198del (p.Asp66del) rs786200895
NM_024009.3(GJB3):c.479G>A (p.Arg160His) rs200055020
NM_024301.5(FKRP):c.291C>T (p.Pro97=) rs1215872713
NM_024334.3(TMEM43):c.163-3del rs371706980
NM_024411.5(PDYN):c.582C>T (p.Asp194=) rs769461186
NM_024411.5(PDYN):c.658_659del (p.Trp220fs) rs748307861
NM_024426.6(WT1):c.1349A>G (p.His450Arg) rs1851851609
NM_024426.6(WT1):c.1400G>A (p.Arg467Gln) rs121907903
NM_024570.4(RNASEH2B):c.925del (p.Ile309fs) rs75254367
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_024589.3(ROGDI):c.117+10C>G rs113858060
NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn) rs548329168
NM_024596.5(MCPH1):c.433C>T (p.Leu145=) rs139607465
NM_024915.4(GRHL2):c.1806G>A (p.Ser602=) rs61732855
NM_025137.4(SPG11):c.258-6del rs373234269
NM_025243.4(SLC19A3):c.*8G>T rs188532608
NM_025243.4(SLC19A3):c.390G>T (p.Val130=) rs376187918
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=) rs138363524
NM_030665.4(RAI1):c.3430A>G (p.Met1144Val) rs1198803613
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_030962.4(SBF2):c.3292C>G (p.Leu1098Val) rs117957652
NM_030962.4(SBF2):c.3652+6C>T rs1057524041
NM_030962.4(SBF2):c.619+1G>A rs1565150234
NM_031443.4(CCM2):c.1250_1251del (p.Glu417fs) rs1562921605
NM_031443.4(CCM2):c.134_135del (p.Val45fs) rs1562881980
NM_031443.4(CCM2):c.30+5_30+6delinsTT rs797044623
NM_031475.3(ESPN):c.702C>G (p.Ser234=) rs367944375
NM_032119.4(ADGRV1):c.13590C>T (p.Pro4530=) rs41311745
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu) rs41303350
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser) rs41311335
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) rs41302834
NM_032119.4(ADGRV1):c.8730+9_8730+10del rs780180737
NM_032119.4(ADGRV1):c.9906+9C>T rs1270729721
NM_032634.4(PIGO):c.714C>T (p.Gly238=) rs148186264
NM_032737.4(LMNB2):c.402C>T (p.Ser134=) rs148213507
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047
NM_033163.5(FGF8):c.86_103dup (p.Gly29_Arg34dup) rs762175290
NM_033380.3(COL4A5):c.1032+1G>C rs1569491753
NM_033380.3(COL4A5):c.1779+1G>A rs104886337
NM_033380.3(COL4A5):c.1895G>T (p.Gly632Val) rs104886145
NM_033380.3(COL4A5):c.2414G>A (p.Gly805Glu) rs1556418210
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1]) rs104886356
NM_033380.3(COL4A5):c.2696G>A (p.Gly899Asp) rs281874702
NM_033380.3(COL4A5):c.3197G>T (p.Gly1066Val) rs104886221
NM_033380.3(COL4A5):c.458G>T (p.Gly153Val) rs1569488946
NM_033380.3(COL4A5):c.511G>C (p.Gly171Arg) rs1556404027
NM_033380.3(COL4A5):c.874G>A (p.Gly292Arg) rs104886073
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp) rs104886079
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln) rs121908375
NM_130837.3(OPA1):c.1035+5G>A rs754576717
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_130837.3(OPA1):c.1174C>G (p.His392Asp) rs1553877591
NM_130837.3(OPA1):c.1377_1377+4del rs1577242473
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro) rs1553877946
NM_130837.3(OPA1):c.1681+3A>G rs1553878573
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del) rs794727173
NM_130837.3(OPA1):c.2126A>G (p.Asp709Gly) rs2109139343
NM_130837.3(OPA1):c.2661+1G>T rs794727392
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs) rs879255560
NM_130837.3(OPA1):c.3013_3019dup (p.Phe1007Ter) rs1553797598
NM_133261.3(GIPC3):c.69G>A (p.Ala23=) rs150473323
NM_133378.4(TTN):c.37385_37387delAAG rs759525338
NM_138691.3(TMC1):c.238GAA[3] (p.Glu83del) rs376040866
NM_145207.3(AFG2A):c.1A>C (p.Met1Leu) rs552219028
NM_145239.3(PRRT2):c.323_324del (p.Thr108fs) rs886041327
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs) rs587778771
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=) rs34578730
NM_152564.5(VPS13B):c.3445+7_3445+9dup rs1335342521
NM_152743.4(BRAT1):c.-7C>T
NM_152743.4(BRAT1):c.2169T>A (p.Leu723=) rs150300694
NM_153026.3(PRICKLE1):c.954C>G (p.Ser318=) rs139421676
NM_153026.3(PRICKLE1):c.954C>T (p.Ser318=) rs139421676
NM_170665.4(ATP2A2):c.2925C>T (p.Pro975=) rs147558863
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.356G>C (p.Arg119Pro) rs397517902
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.807C>G (p.Ala269=) rs1194309507
NM_172107.4(KCNQ2):c.1057C>T (p.Arg353Cys) rs118192218
NM_172107.4(KCNQ2):c.1757A>C (p.Gln586Pro) rs796052656
NM_173354.5(SIK1):c.274-3del rs550878772
NM_173500.4(TTBK2):c.1499G>A (p.Arg500His) rs56039839
NM_173500.4(TTBK2):c.1499G>C (p.Arg500Pro) rs56039839
NM_175914.5(HNF4A):c.224+17dup rs371937621
NM_175914.5(HNF4A):c.224+1G>A rs1600707958
NM_175914.5(HNF4A):c.334C>T (p.Arg112Trp) rs370239205
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln) rs1085307913
NM_175914.5(HNF4A):c.577G>T (p.Asp193Tyr) rs768043933
NM_175914.5(HNF4A):c.692G>A (p.Arg231Gln) rs1555816615
NM_175914.5(HNF4A):c.868C>T (p.Arg290Cys) rs1555817727
NM_175914.5(HNF4A):c.869G>A (p.Arg290His) rs1191912908
NM_175914.5(HNF4A):c.912C>A (p.Arg304=) rs760811566
NM_175914.5(HNF4A):c.931C>T (p.Arg311Cys) rs193922480
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) rs1375557127
NM_177924.5(ASAH1):c.126-7A>G rs771021569
NM_181458.4(PAX3):c.586+52C>A rs201251689
NM_181882.3(PRX):c.2787del (p.Lys930fs) rs754521978
NM_181882.3(PRX):c.3286_3356del (p.Ile1096fs) rs1555800610
NM_182914.3(SYNE2):c.11549_11550delinsGA (p.Asp3850Gly) rs1555473349
NM_182914.3(SYNE2):c.12109-10_12109-7del rs755277543
NM_182914.3(SYNE2):c.13707+10T>C rs61987277
NM_182914.3(SYNE2):c.15290TTC[1] (p.Leu5098del) rs368230785
NM_182914.3(SYNE2):c.18190G>A (p.Ala6064Thr) rs182079744
NM_182914.3(SYNE2):c.20339G>A (p.Arg6780Gln) rs202240664
NM_182914.3(SYNE2):c.2070A>G (p.Leu690=) rs79037871
NM_182961.3(SYNE1):c.23146-7dup rs770820426
NM_182961.4(SYNE1):c.11030G>A (p.Cys3677Tyr) rs148028681
NM_182961.4(SYNE1):c.11971_11974del (p.Ile3991fs) rs1246610728
NM_182961.4(SYNE1):c.12585G>A (p.Lys4195=) rs149536991
NM_182961.4(SYNE1):c.12607_12609delinsAAA (p.Glu4203Lys) rs2096322019
NM_182961.4(SYNE1):c.14106C>T (p.Thr4702=) rs146180064
NM_182961.4(SYNE1):c.16390-2A>C rs759460806
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys) rs145899734
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg) rs150376715
NM_182961.4(SYNE1):c.18153C>T (p.Ala6051=) rs201090220
NM_182961.4(SYNE1):c.22709_22763del (p.Glu7570fs) rs1554558620
NM_182961.4(SYNE1):c.23791-6del rs757124573
NM_182961.4(SYNE1):c.23979-7G>C rs376918337
NM_182961.4(SYNE1):c.2727+1G>T rs942550749
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=) rs146789107
NM_182961.4(SYNE1):c.639del (p.His214fs) rs1412791793
NM_182961.4(SYNE1):c.7620G>A (p.Thr2540=) rs142663488
NM_182961.4(SYNE1):c.779-4dup rs567435072
NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=) rs6913579
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu) rs149901087
NM_194248.3(OTOF):c.2401_2402delinsTT (p.Glu801Leu) rs111033392
NM_194454.3(KRIT1):c.1400C>A (p.Ser467Ter) rs1554513911
NM_194454.3(KRIT1):c.715C>T (p.Gln239Ter) rs886043300
NM_198576.4(AGRN):c.3264G>C (p.Leu1088Phe) rs150132566
NM_198578.4(LRRK2):c.3497-8del rs201739149
NM_198578.4(LRRK2):c.4883G>A (p.Arg1628His) rs33949390
NM_198994.3(TGM6):c.1430_1431delinsTCTCTGGCGTGACGACCTCCTGGA (p.Gly477fs) rs2122409537
NM_198994.3(TGM6):c.1430_1439del (p.Gly477fs) rs760886419
NM_198994.3(TGM6):c.1431G>A (p.Gly477=) rs373549904
NM_198994.3(TGM6):c.1953_1955dup (p.Gln652dup) rs557817405
NM_201378.4(PLEC):c.71-11710G>T rs200335928
NM_201378.4(PLEC):c.71-3797C>G rs190108480
NM_201378.4(PLEC):c.71-5077G>T rs73377225
NM_201384.3(PLEC):c.10612T>C (p.Leu3538=) rs6992333
NM_201384.3(PLEC):c.12243C>T (p.Thr4081=) rs185022156
NM_201384.3(PLEC):c.1263+7_1263+10delinsCAGTCGGTGAGGCAGCAGTCG rs1064794978
NM_201384.3(PLEC):c.2178+9C>G rs114256617
NM_201384.3(PLEC):c.3745C>A (p.Arg1249=) rs201552166
NM_201384.3(PLEC):c.378T>C (p.Ala126=) rs6993938
NM_201384.3(PLEC):c.378T>G (p.Ala126=) rs6993938
NM_201384.3(PLEC):c.4598G>A (p.Arg1533Gln) rs201430180
NM_201384.3(PLEC):c.5082G>A (p.Leu1694=) rs182961574
NM_201384.3(PLEC):c.5082G>C (p.Leu1694=) rs182961574
NM_201384.3(PLEC):c.5922G>C (p.Gln1974His) rs202190540
NM_201384.3(PLEC):c.6313_6314delinsAT (p.Ala2105Met) rs886044784
NM_201384.3(PLEC):c.7370G>C (p.Arg2457Pro) rs199504105
NM_201384.3(PLEC):c.7830G>A (p.Ala2610=) rs376112916
NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn) rs200814155
NM_201525.4(ADGRG1):c.641C>T (p.Ser214Leu) rs114515505
NM_201525.4(ADGRG1):c.843C>G (p.Ser281Arg) rs1801257
NM_203447.4(DOCK8):c.1648C>T (p.Arg550Ter) rs1057518028
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter) rs397518021
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255
NM_213599.3(ANO5):c.1222C>T (p.Leu408=) rs997655691
NM_213599.3(ANO5):c.2646C>G (p.Asn882Lys) rs34969327
NM_213599.3(ANO5):c.879-7_879-6del rs143977836
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe) rs7481951
Single allele

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