ClinVar Miner

Variants from Athena Diagnostics Inc with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Athena Diagnostics Inc: Collection method of the submission from Athena Diagnostics Inc:
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 Variants with at least 2 submissions 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 kind of conflict
3915 3677 116 3992 1961 35 358 5414

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 Inc pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response protective risk factor other
pathogenic 90 233 100 10 3 0 1 3 1 2 0
likely pathogenic 103 0 53 2 0 0 0 0 0 0 0
uncertain significance 60 81 7 494 133 1 1 1 1 4 1
likely benign 16 5 544 0 480 0 0 0 0 4 0
benign 39 15 860 3177 19 1 3 2 4 14 0

Submitter to submitter summary #

Total submitters: 218
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Illumina Clinical Services Laboratory,Illumina 0 989 0 1384 631 0 21 2032
Invitae 0 4718 0 943 446 0 51 1438
GeneDx 0 3030 0 873 261 0 28 1160
Genetic Services Laboratory, University of Chicago 0 670 0 805 150 0 15 968
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 2124 0 435 428 0 21 882
Ambry Genetics 0 1099 0 402 89 0 5 496
CeGaT Praxis fuer Humangenetik Tuebingen 0 178 0 112 282 0 19 412
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1217 0 235 84 0 3 322
PreventionGenetics,PreventionGenetics 0 1631 0 288 13 0 1 301
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 178 0 165 24 0 4 192
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 595 0 99 51 0 4 153
GeneReviews 0 102 95 13 16 0 19 142
Counsyl 0 149 0 107 12 0 12 130
OMIM 0 323 0 30 11 30 56 125
Mendelics 0 179 0 68 34 0 11 113
Integrated Genetics/Laboratory Corporation of America 0 308 7 53 16 0 13 89
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 156 9 38 21 0 0 68
Inherited Neuropathy Consortium 0 27 0 4 11 0 44 59
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 74 0 38 12 0 1 51
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 175 0 42 7 0 0 49
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 133 0 25 18 0 3 46
Color 0 126 0 28 13 0 1 42
Fulgent Genetics,Fulgent Genetics 0 294 0 14 21 0 0 35
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 90 0 24 5 0 2 31
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 70 0 25 4 0 1 30
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 39 0 13 13 0 5 30
Center for Human Genetics, Inc 0 33 0 17 9 0 0 26
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 79 0 11 9 0 3 23
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 29 0 12 3 0 7 22
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 16 0 8 11 0 2 21
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 20 0 5 10 0 6 20
True Health Diagnostics 0 4 0 17 3 0 0 20
CSER _CC_NCGL, University of Washington 0 5 0 6 11 0 2 19
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 16 0 2 16 0 1 18
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 22 0 18 0 0 0 18
Baylor Genetics 0 50 0 8 6 0 4 17
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 0 0 0 0 0 0 16 16
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 11 0 9 5 1 0 15
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 51 0 8 6 0 0 14
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 5 0 1 9 0 2 12
NIHR Bioresource Rare Diseases, University of Cambridge 0 9 0 8 1 0 5 12
SIB Swiss Institute of Bioinformatics 0 21 0 6 2 0 4 12
Genesis Genome Database 0 3 0 0 1 0 11 12
Blueprint Genetics 0 22 0 3 4 0 3 10
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 3 0 2 7 0 3 10
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 10 0 8 2 0 1 10
Department of Pathology and Laboratory Medicine,Sinai Health System 0 39 0 9 0 0 1 10
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 8 0 5 0 0 4 9
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 10 0 4 2 0 3 9
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 20 0 5 3 0 1 9
Research and Development, ARUP Laboratories 0 24 5 2 1 0 1 9
Gharavi Laboratory,Columbia University 0 23 0 7 0 0 2 9
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 6 0 0 2 8
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 0 6 0 1 6 0 1 8
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 3 0 7 1 0 0 8
Institute of Human Genetics,Klinikum rechts der Isar 0 48 0 1 0 0 5 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 16 0 4 1 0 1 6
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 10 0 4 1 0 2 6
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 3 1 1 2 0 1 5
Division of Human Genetics,Children's Hospital of Philadelphia 0 12 0 2 2 0 1 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 3 0 0 1 0 4 5
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 3 0 2 2 0 1 5
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 13 0 3 1 0 1 5
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 3 0 0 2 5
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 1 0 5 0 0 0 5
Database of Curated Mutations (DoCM) 0 0 0 4 0 0 1 5
Robarts Research Institute,Western University 0 3 0 5 0 0 1 5
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 43 0 1 2 0 1 4
Institute of Human Genetics,Cologne University 0 5 0 1 0 0 3 4
Center for Genetic Medicine Research,Children's National Medical Center 0 2 0 2 2 0 0 4
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 0 4 0 0 0 4
GeneKor MSA 0 9 0 1 3 0 0 4
Vantari Genetics 0 7 0 1 3 0 0 4
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 7 0 3 0 0 1 4
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 9 0 4 0 0 0 4
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 20 0 1 1 0 1 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 2 0 0 2 3
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 6 0 3 0 0 0 3
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust 0 0 0 2 1 0 0 3
PharmGKB 0 0 0 0 0 3 0 3
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 7 0 2 1 0 0 3
UCLA Clinical Genomics Center, UCLA 0 2 0 2 0 0 1 3
Medical Genetics, University of Parma 0 1 0 2 1 0 0 3
Center for Human Genetics,University of Leuven 0 1 0 2 0 0 1 3
Translational Genomics Laboratory,University of Maryland School of Medicine 0 6 0 0 0 0 3 3
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 4 0 1 2 0 1 3
Undiagnosed Diseases Network,NIH 0 7 0 2 1 0 2 3
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 4 0 1 1 0 1 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 5 0 1 0 0 2 3
ClinGen Hearing Loss Variant Curation Expert Panel, 0 10 0 1 2 0 0 3
Claritas Genomics 0 4 0 1 1 0 0 2
Elsea Laboratory,Baylor College of Medicine 0 0 0 0 0 0 2 2
UniProtKB/Swiss-Prot 0 22 0 2 0 0 0 2
Academic Department of Medical Genetics, University of Cambridge 0 0 0 0 1 0 2 2
LDLR-LOVD, British Heart Foundation 0 7 0 2 0 0 0 2
Wellcome Centre for Mitochondrial Research,Newcastle University 0 8 0 0 0 0 2 2
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 2 0 0 0 2
Laboratory of Human Genetics,Universidade de São Paulo 0 0 0 2 0 0 0 2
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 2 0 0 1 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 1 0 0 1 0 1 2
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 2 0 2 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 3 0 0 1 0 1 2
Neurogenetics Laboratory - MEYER,AOU Meyer 0 2 0 0 1 0 1 2
Phosphorus, Inc. 0 10 0 1 1 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 2 0 1 2 0 1 2
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 1 1 0 2 2
ClinGen RASopathy Variant Curation Expert Panel 0 2 0 1 1 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 10 0 2 0 0 0 2
Dept. of Medical Genetics, Telemark Hospital Trust 0 1 0 1 1 0 2 2
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 0 0 0 0 0 0 2 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 3 0 0 0 0 2 2
Broad Institute Rare Disease Group,Broad Institute 0 24 0 2 0 0 1 2
Raymond Lab,University of Cambridge 0 0 0 1 0 0 1 2
Genetic Diseases Diagnostic Center,Koc University Hospital 0 0 0 2 0 0 1 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 0 3 0 1 0 0 1 2
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 0 2 2
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 7 0 2 0 0 1 2
Athena Diagnostics Inc 12963 42 0 0 1 0 1 1
Collagen Diagnostic Laboratory,University of Washington 0 0 0 0 0 0 1 1
Clinical Biochemistry Laboratory,Health Services Laboratory 0 0 0 0 1 0 1 1
Genetics - Viapath,Viapath, Guy's Hospital 0 0 0 0 0 0 1 1
Columbia University Laboratory of Personalized Genomic Medicine,Columbia University Medical Center 0 0 0 0 0 0 1 1
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center 0 0 0 0 0 0 1 1
Endocrinology Clinic, Seth G.S. Medical College 0 0 0 0 0 0 1 1
PXE International 0 0 0 0 0 0 1 1
Mayo Muscle Lab, Mayo Clinic 0 0 0 0 0 0 1 1
Breast Cancer Information Core (BIC) (BRCA1) 0 0 0 0 1 0 1 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 1 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 0 0 0 0 0 1 1
Department of Medical Genetics,Oslo University Hospital 0 0 0 1 0 0 1 1
Shaikh Laboratory, University of Colorado 0 0 0 1 0 0 1 1
University of British Columbia 0 0 0 1 0 0 1 1
Department of Molecular Endocrinology,National Research Institute for Child Health and Development 0 0 0 0 0 0 1 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 1 0 0 1 1
Department of Molecular and Human Genetics, Baylor College of Medicine 0 0 0 0 0 0 1 1
Institute of Pediatric Research,Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 0 0 0 0 0 0 1 1
Institute for Integrative and Experimental Genomics,University of Luebeck 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
Science and Research Branch, Islamic Azad University,Islamic Azad University 0 0 0 0 0 0 1 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
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 1 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
Department of Neurology, University Hospital of Strasbourg 0 0 0 0 0 0 1 1
Centre of Medical Genetics, University of Antwerp 0 0 0 0 0 0 1 1
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 0 0 0 0 0 0 1 1
Institute for Ophthalmic Research,University Tuebingen 0 0 0 0 0 0 1 1
Dobyns Lab,Seattle Children's Research Institute 0 0 0 0 0 0 1 1
Endocrine Unit 2,University Hospital of Pisa 0 0 0 0 1 0 0 1
Department of Clinical Genetics,Tartu University Hospital 0 0 0 0 0 0 1 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 0 0 0 0 0 0 1 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 0 1 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 0 1 0 0 1
UCL Genetics Institute,UCL 0 0 0 0 0 1 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 0 0 1 0 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 3 0 0 0 0 1 1
Prof. Thelma's Laboratory, Department of Genetics,University of Delhi South Campus 0 0 0 1 0 0 1 1
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn 0 0 0 1 0 0 1 1
Laboratory of Genetics, AOUP,Azienda Ospedaliera Universitaria Pisana 0 0 0 0 0 0 1 1
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 0 0 0 0 0 0 1 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 1 0 0 1 0 1 1
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 1 0 1 0 0 0 1
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 0 0 0 1 1 0 1 1
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 0 0 0 0 0 0 1 1
Geschwind lab,University of California Los Angeles 0 0 0 1 1 1 1 1
Department of Medical Biochemistry and Genetics,University of Turku 0 0 0 1 0 0 1 1
Institute of Human Genetics,University of Wuerzburg 0 1 0 0 1 0 0 1
GenePathDx,Causeway Health Care Private Ltd 0 1 0 0 1 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 0 0 0 0 0 1 1
Zuffardi lab,University of Pavia 0 0 0 0 0 0 1 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 0 0 0 1 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 0 0 0 1 1
Tim Yu lab,Boston Children's Hospital 0 0 0 0 0 0 1 1
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 0 0 1 0 0 0 1
Muenke lab,National Institutes of Health 0 0 0 0 1 0 0 1
Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesse 0 0 0 0 0 0 1 1
Medical Genetics Laboratory,Aldo Moro University of Bari 0 0 0 0 0 0 1 1
Herman Laboratory,Nationwide Children's Hospital 0 0 0 0 0 0 1 1
Yale Center for Mendelian Genomics,Yale University 0 0 0 1 0 0 0 1
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 9 0 1 0 0 0 1
Fundacion Hipercolesterolemia Familiar 0 2 0 0 0 0 1 1
Iberoamerican FH Network 0 3 0 0 0 0 1 1
Section on Medical Neuroendocrinolgy,National Institutes of Health 0 0 0 1 0 0 0 1
Department of Medical Sciences,Uppsala University 0 4 0 0 0 0 1 1
Department of Obstetrics and Gynecology,Helsinki University Hospital 0 0 0 1 0 0 1 1
Yang An-Suei Laboratory,Academia Sinica 0 0 0 0 0 0 1 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 1 0 0 1 1
Flegel Lab,National Institutes of Health 0 0 0 0 0 0 1 1
Sharon lab,Hadassah-Hebrew University Medical Center 0 1 0 1 0 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 0 0 0 0 0 0 1 1
Genetics Laboratory,Facudade de Medicina de Sao Jose do Rio Preto 0 0 0 0 1 0 0 1
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 0 1 0 0 1 0 0 1
Molecular Genetics Laboratory,State University of Campinas 0 0 0 1 0 0 1 1
Emory University School of Medicine, Department of Human Genetics,Emory University 0 0 0 0 0 0 1 1
Clinical genetics,CHU Grenoble-Alpes 0 0 0 0 0 0 1 1
Reproductive Development, Murdoch Childrens Research Institute 0 0 0 0 0 0 1 1
Tampere Brain Tumor Research Consortium,University of Tampere 0 0 0 0 0 0 1 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 0 1 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 0 0 1 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 1 1 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 1 1 0 1 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 3 0 1 0 0 0 1
Kids Research, The Children's Hospital at Westmead 0 0 0 0 1 0 0 1
Dr. Alfred Bastarche Laboratory,Dr. Georges L. Dumont University Hospital Centre 0 0 0 0 0 0 1 1
Michaelson Lab,University of Iowa 0 0 0 0 1 0 1 1
Mayo Clinic Genomics Laboratory,Mayo Clinic 0 0 0 0 0 0 1 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 1 0 0 1 1
Johns Hopkins Genomics,Johns Hopkins University 0 1 0 0 0 0 1 1
Inherited Eye Disorders lab,UCL Institute of Ophthalmology 0 0 0 0 0 0 1 1
Codex Genetics Limited 0 1 0 1 0 0 0 1
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center 0 0 0 0 0 1 0 1
Klaassen Lab,Charite University Medicine Berlin 0 1 0 0 1 0 0 1
Stefan Somlo Laboratory,Yale School of Medicine 0 0 0 0 1 0 0 1
Medical Affairs,Enzyvant 0 0 0 0 0 0 1 1
Division of Nephrology,Beth Israel Deaconess Medical Center 0 1 0 0 0 0 1 1
Reproductive Health Research and Development,BGI Genomics 0 5 0 0 1 0 1 1
Clinical Genetics Research Group,Karolinska Institutet 0 0 0 0 0 0 1 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 5414
Download table as spreadsheet
HGVS dbSNP
NC_012920.1(MT-CO1):m.6260G>A rs201395766
NC_012920.1(MT-CO1):m.6261G>A rs201262114
NC_012920.1(MT-CYB):m.8348A>G
NC_012920.1(MT-ND1):m.3849G>A rs878853081
NC_012920.1:m.5951A>G rs7340122
NC_012920.1:m.6071T>C rs7340086
NC_012920.1:m.6951G>A
NC_012920.1:m.7724A>T
NC_012920.1:m.7746A>G
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=) rs116640707
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) rs63751223
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) rs63750083
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) rs63749824
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) rs63751399
NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser) rs63751278
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) rs63751037
NM_000021.4(PSEN1):c.697A>G (p.Met233Val) rs63751287
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu) rs63750301
NM_000021.4(PSEN1):c.799C>T (p.Pro267Ser) rs63751229
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) rs17125721
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys) rs758647756
NM_000023.4(SGCA):c.366G>A (p.Leu122=) rs147739328
NM_000023.4(SGCA):c.37+23G>A rs79410682
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser) rs35130237
NM_000023.4(SGCA):c.528C>T (p.Thr176=) rs1801190
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936
NM_000023.4(SGCA):c.933C>T (p.Val311=) rs1801191
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415
NM_000026.4(ADSL):c.216C>T (p.Ile72=) rs145786986
NM_000026.4(ADSL):c.357+6C>T rs181628906
NM_000026.4(ADSL):c.358-4G>A rs113199851
NM_000026.4(ADSL):c.403-4G>A rs373652667
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991
NM_000026.4(ADSL):c.649C>G (p.His217Asp) rs199761158
NM_000026.4(ADSL):c.895A>G (p.Met299Val) rs34396910
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.1455A>C (p.Ser485=) rs150878397
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.498_520del (p.Val167fs) rs398123112
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu) rs1569540710
NM_000033.4(ABCD1):c.696G>T (p.Ala232=) rs147595334
NM_000051.3(ATM):c.1027_1030delGAAA rs587780612
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.1073A>G (p.Asn358Ser) rs149636614
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1380G>C (p.Thr460=) rs145333518
NM_000051.3(ATM):c.1444A>C (p.Lys482Gln) rs202173660
NM_000051.3(ATM):c.1541G>A (p.Gly514Asp) rs2235000
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.1636C>G (p.Leu546Val) rs2227924
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000051.3(ATM):c.1986T>C (p.Phe662=) rs1800055
NM_000051.3(ATM):c.202A>G (p.Ile68Val) rs35389822
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2193C>T (p.Tyr731=) rs2229019
NM_000051.3(ATM):c.2250G>A (p.Lys750=) rs1137887
NM_000051.3(ATM):c.2476A>C (p.Ile826Leu) rs587782397
NM_000051.3(ATM):c.2522A>C (p.Asp841Ala) rs587781812
NM_000051.3(ATM):c.2608A>G (p.Asn870Asp) rs61734354
NM_000051.3(ATM):c.2614C>T (p.Pro872Ser) rs3218673
NM_000051.3(ATM):c.2685A>G (p.Leu895=) rs3218687
NM_000051.3(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.3(ATM):c.2887A>G (p.Met963Val) rs374353016
NM_000051.3(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.3(ATM):c.3285-9del rs1799757
NM_000051.3(ATM):c.3342G>A (p.Lys1114=) rs138393322
NM_000051.3(ATM):c.3517T>C (p.Leu1173=) rs141460670
NM_000051.3(ATM):c.370A>G (p.Ile124Val) rs148590073
NM_000051.3(ATM):c.378T>A (p.Asp126Glu) rs2234997
NM_000051.3(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.3(ATM):c.3993+5G>T rs3092842
NM_000051.3(ATM):c.4066A>G (p.Asn1356Asp) rs147600485
NM_000051.3(ATM):c.4138C>T (p.His1380Tyr) rs3092856
NM_000051.3(ATM):c.4324T>C (p.Tyr1442His) rs201666889
NM_000051.3(ATM):c.4362A>C (p.Lys1454Asn) rs148993589
NM_000051.3(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.3(ATM):c.4473C>T (p.Phe1491=) rs4988008
NM_000051.3(ATM):c.4949A>G (p.Asn1650Ser) rs55870064
NM_000051.3(ATM):c.5185G>C (p.Val1729Leu) rs3092907
NM_000051.3(ATM):c.5228C>T (p.Thr1743Ile) rs587779844
NM_000051.3(ATM):c.5488A>G (p.Met1830Val) rs587781622
NM_000051.3(ATM):c.5557G>A (p.Asp1853Asn) rs1801516
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.5821G>C (p.Val1941Leu) rs147187700
NM_000051.3(ATM):c.5975A>C (p.Lys1992Thr) rs150757822
NM_000051.3(ATM):c.6067G>A (p.Gly2023Arg) rs11212587
NM_000051.3(ATM):c.609C>T (p.Asp203=) rs144709948
NM_000051.3(ATM):c.6235G>A (p.Val2079Ile) rs1800060
NM_000051.3(ATM):c.6437G>C (p.Ser2146Thr) rs56815840
NM_000051.3(ATM):c.657T>C (p.Cys219=) rs2235003
NM_000051.3(ATM):c.6681C>T (p.Arg2227=) rs775850434
NM_000051.3(ATM):c.6795C>T (p.Phe2265=) rs3218699
NM_000051.3(ATM):c.7224G>A (p.Ser2408=) rs145747513
NM_000051.3(ATM):c.735C>T (p.Val245=) rs3218674
NM_000051.3(ATM):c.7494T>C (p.Ser2498=) rs34393781
NM_000051.3(ATM):c.7740A>C (p.Arg2580Ser) rs199915459
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.3(ATM):c.7928-10T>C rs188404773
NM_000051.3(ATM):c.8495G>T (p.Arg2832Leu) rs529296539
NM_000051.3(ATM):c.8560C>T (p.Arg2854Cys) rs201958469
NM_000051.3(ATM):c.8592C>T (p.Tyr2864=) rs56025670
NM_000051.3(ATM):c.8786+8A>C rs4986839
NM_000051.3(ATM):c.8987+3G>A rs56360226
NM_000051.3(ATM):c.9086G>A (p.Gly3029Asp) rs201199629
NM_000054.6(AVPR2):c.26-6T>G rs56689668
NM_000054.6(AVPR2):c.554del (p.Gly185fs) rs193922116
NM_000054.6(AVPR2):c.740G>A (p.Arg247His) rs149668713
NM_000068.4(CACNA1A):c.2980_2985GAGGGC[4] (p.994_995EG[4]) rs764399373
NM_000069.3(CACNA1S):c.1301T>C (p.Phe434Ser) rs146136274
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His) rs146696298
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000069.3(CACNA1S):c.1548G>A (p.Ser516=) rs16847669
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777
NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His) rs4915212
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235
NM_000069.3(CACNA1S):c.1995C>T (p.Ala665=) rs16847664
NM_000069.3(CACNA1S):c.2047C>T (p.Arg683Cys) rs35708442
NM_000069.3(CACNA1S):c.2063+7G>T rs79984703
NM_000069.3(CACNA1S):c.2439C>T (p.Ser813=) rs376863448
NM_000069.3(CACNA1S):c.2480T>C (p.Met827Thr) rs61238538
NM_000069.3(CACNA1S):c.2784C>T (p.Ile928=) rs143483718
NM_000069.3(CACNA1S):c.3189C>T (p.Phe1063=) rs150020550
NM_000069.3(CACNA1S):c.3261A>G (p.Gln1087=) rs34515088
NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His) rs142102094
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=) rs144218745
NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly) rs28930069
NM_000069.3(CACNA1S):c.3796-9G>A rs142184434
NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser) rs139491817
NM_000069.3(CACNA1S):c.3953+6C>T rs115707724
NM_000069.3(CACNA1S):c.3953+7G>A rs141071505
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245
NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=) rs138423302
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe) rs200848930
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000069.3(CACNA1S):c.858C>T (p.Tyr286=) rs61734621
NM_000070.2(CAPN3):c.1319G>A rs376107921
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676
NM_000070.3(CAPN3):c.1029+3A>G rs28364442
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.1194-9A>G rs374665929
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) rs774048743
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) rs863224956
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg) rs150226817
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) rs80338803
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879
NM_000070.3(CAPN3):c.2185-2A>G rs886041335
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln) rs80338802
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs) rs1555423217
NM_000070.3(CAPN3):c.2380+12del rs28364538
NM_000070.3(CAPN3):c.2381-2A>G rs863224962
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128
NM_000070.3(CAPN3):c.2433T>C (p.Val811=) rs28364543
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478
NM_000070.3(CAPN3):c.318C>T (p.Cys106=) rs117609395
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala) rs587780291
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro) rs758795961
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364
NM_000070.3(CAPN3):c.802-9G>A rs761211705
NM_000070.3(CAPN3):c.939G>A (p.Pro313=) rs78369269
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496
NM_000080.4(CHRNE):c.1017C>G (p.Ser339=) rs114454383
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073
NM_000080.4(CHRNE):c.1076C>T (p.Pro359Leu) rs192195094
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000080.4(CHRNE):c.45C>T (p.Leu15=) rs34563587
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp) rs121909515
NM_000083.2(CLCN1):c.698delG (p.Gly233Alafs) rs1423567292
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703
NM_000083.3(CLCN1):c.1205C>T (p.Ala402Val) rs202119213
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000083.3(CLCN1):c.1480T>C (p.Phe494Leu) rs147493705
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val) rs80356704
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696
NM_000083.3(CLCN1):c.1842G>C (p.Lys614Asn) rs140205115
NM_000083.3(CLCN1):c.2207C>T (p.Thr736Ile) rs139757692
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr) rs149316679
NM_000083.3(CLCN1):c.2284+5C>T rs74824159
NM_000083.3(CLCN1):c.2364+10G>A rs201855153
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr) rs201861334
NM_000083.3(CLCN1):c.2550C>T (p.Tyr850=) rs775384507
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271
NM_000083.3(CLCN1):c.26G>A (p.Arg9His) rs115379077
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs) rs755176513
NM_000083.3(CLCN1):c.2847C>T (p.Gly949=) rs760793323
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp) rs748639603
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile) rs762344462
NM_000083.3(CLCN1):c.450C>T (p.Tyr150=) rs56307536
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
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.592C>G (p.Leu198Val) rs80356685
NM_000083.3(CLCN1):c.651C>T (p.Val217=) rs144109732
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) rs80356700
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser)
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp) rs746691295
NM_000083.3(CLCN1):c.799C>T (p.Leu267=) rs1563075864
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) rs80356690
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr) rs764100025
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) rs202179484
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701
NM_000083.3(CLCN1):c.929C>T (p.Thr310Met) rs80356691
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) rs80356692
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val)
NM_000085.4(CLCNKB):c.1297+5G>T rs35351345
NM_000085.4(CLCNKB):c.1312C>T (p.Arg438Cys) rs121909133
NM_000085.4(CLCNKB):c.1409-6T>C rs115910575
NM_000085.4(CLCNKB):c.171G>A (p.Gly57=) rs150723240
NM_000085.4(CLCNKB):c.1877G>A (p.Cys626Tyr) rs143663847
NM_000085.4(CLCNKB):c.258G>A (p.Gly86=) rs143339401
NM_000085.4(CLCNKB):c.577-5C>T rs1889788
NM_000086.2(CLN3):c.582G>T (p.Leu194=) rs386833734
NM_000086.2(CLN3):c.597C>A (p.Tyr199Ter) rs267606737
NM_000086.2(CLN3):c.768C>T (p.Thr256=) rs145967477
NM_000088.3(COL1A1):c.1300-8C>G rs41317361
NM_000088.3(COL1A1):c.1300-8C>T rs41317361
NM_000088.3(COL1A1):c.1615-4C>A rs41316657
NM_000088.3(COL1A1):c.177G>T (p.Arg59=) rs1057297
NM_000088.3(COL1A1):c.1821C>T (p.Val607=) rs41316667
NM_000088.3(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221
NM_000088.3(COL1A1):c.1983+9G>C rs201091992
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.2236-17C>G rs193922146
NM_000088.3(COL1A1):c.2613+13C>T rs368380161
NM_000088.3(COL1A1):c.2668-12A>G rs200355573
NM_000088.3(COL1A1):c.2685del (p.Gly896fs) rs193922151
NM_000088.3(COL1A1):c.2838T>G (p.Pro946=) rs1555572418
NM_000088.3(COL1A1):c.298+7C>A rs41317345
NM_000088.3(COL1A1):c.299-15C>T rs199523510
NM_000088.3(COL1A1):c.3099+7T>C rs201682029
NM_000088.3(COL1A1):c.3123C>T (p.Pro1041=) rs145608939
NM_000088.3(COL1A1):c.3459T>C (p.Asp1153=) rs1800218
NM_000088.3(COL1A1):c.4249-12G>A rs2249492
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000088.3(COL1A1):c.859-14T>G rs17639446
NM_000088.3(COL1A1):c.904-9G>T rs141726413
NM_000088.3(COL1A1):c.985G>C (p.Gly329Arg) rs1555574303
NM_000089.3(COL1A2):c.1036-12A>G rs41316929
NM_000089.3(COL1A2):c.122G>A (p.Arg41His) rs139528613
NM_000089.3(COL1A2):c.2349+16G>C rs112603291
NM_000089.3(COL1A2):c.2904C>T (p.Pro968=) rs142352627
NM_000089.3(COL1A2):c.304C>T (p.Pro102Ser) rs189557655
NM_000089.3(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365
NM_000089.3(COL1A2):c.3712-13C>T rs74335369
NM_000089.3(COL1A2):c.82-12A>G rs143689469
NM_000091.4(COL4A3):c.1223G>A (p.Arg408His) rs34505188
NM_000091.4(COL4A3):c.1352A>G (p.His451Arg) rs11677877
NM_000091.4(COL4A3):c.1398T>C (p.Asp466=) rs145833114
NM_000091.4(COL4A3):c.1452G>A (p.Gly484=) rs34019152
NM_000091.4(COL4A3):c.222G>T (p.Pro74=) rs187950806
NM_000091.4(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181
NM_000091.4(COL4A3):c.2501A>G (p.Lys834Arg) rs56226424
NM_000091.4(COL4A3):c.346C>A (p.Pro116Thr) rs115324397
NM_000091.4(COL4A3):c.3566-9T>C rs147886850
NM_000091.4(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801
NM_000091.4(COL4A3):c.399G>A (p.Gly133=) rs75683214
NM_000091.4(COL4A3):c.4041C>A (p.Asp1347Glu) rs73996414
NM_000091.4(COL4A3):c.4380T>C (p.Cys1460=) rs114430490
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000091.4(COL4A3):c.4494C>G (p.Thr1498=) rs200454769
NM_000091.4(COL4A3):c.4665G>A (p.Ala1555=) rs200858199
NM_000091.4(COL4A3):c.4707A>T (p.Pro1569=) rs113401495
NM_000091.4(COL4A3):c.4825C>T (p.Arg1609Ter) rs756231749
NM_000091.4(COL4A3):c.4893C>T (p.Phe1631=) rs183218622
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.4(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000091.4(COL4A3):c.547-9A>C rs55667591
NM_000091.4(COL4A3):c.805G>A (p.Glu269Lys) rs80109666
NM_000091.4(COL4A3):c.976G>T (p.Asp326Tyr) rs55703767
NM_000092.4(COL4A4):c.1045C>T (p.Arg349Ter) rs534522842
NM_000092.4(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235
NM_000092.4(COL4A4):c.1396G>A (p.Gly466Arg) rs201859109
NM_000092.4(COL4A4):c.1634G>C (p.Gly545Ala) rs1800516
NM_000092.4(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949
NM_000092.4(COL4A4):c.195T>C (p.Gly65=) rs201278620
NM_000092.4(COL4A4):c.198A>G (p.Pro66=) rs147947155
NM_000092.4(COL4A4):c.2008G>A (p.Val670Ile) rs34236495
NM_000092.4(COL4A4):c.2079C>T (p.Pro693=) rs200010601
NM_000092.4(COL4A4):c.2276C>T (p.Pro759Leu) rs36121515
NM_000092.4(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.4(COL4A4):c.2384-5T>C rs3769641
NM_000092.4(COL4A4):c.2439A>T (p.Gly813=) rs34835657
NM_000092.4(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437
NM_000092.4(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860
NM_000092.4(COL4A4):c.2717-5A>T rs1800519
NM_000092.4(COL4A4):c.2878G>A (p.Gly960Arg) rs769783985
NM_000092.4(COL4A4):c.2899A>G (p.Ile967Val) rs80243096
NM_000092.4(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659
NM_000092.4(COL4A4):c.3486A>G (p.Pro1162=) rs2229815
NM_000092.4(COL4A4):c.3506-8T>G rs761588725
NM_000092.4(COL4A4):c.3734G>T (p.Gly1245Val) rs1189502123
NM_000092.4(COL4A4):c.3861delinsCTC (p.Arg1288fs)
NM_000092.4(COL4A4):c.3963T>C (p.Asp1321=) rs116124529
NM_000092.4(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000092.4(COL4A4):c.4041A>G (p.Leu1347=) rs16823077
NM_000092.4(COL4A4):c.4656G>A (p.Met1552Ile) rs77104306
NM_000092.4(COL4A4):c.4708G>A (p.Glu1570Lys)
NM_000092.4(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000092.4(COL4A4):c.5016A>G (p.Glu1672=) rs34761049
NM_000092.4(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711
NM_000092.4(COL4A4):c.50A>G (p.Lys17Arg) rs114969026
NM_000092.4(COL4A4):c.736-10T>G rs201175819
NM_000092.4(COL4A4):c.948T>C (p.Tyr316=) rs34509421
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291
NM_000098.3(CPT2):c.1422C>A (p.Ala474=) rs192779168
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe) rs749895856
NM_000098.3(CPT2):c.1598T>C (p.Val533Ala) rs144703247
NM_000098.3(CPT2):c.365C>T (p.Ser122Phe) rs192275019
NM_000098.3(CPT2):c.932A>G (p.Asn311Ser) rs142790440
NM_000100.3(CSTB):c.121G>A (p.Val41Met) rs143153487
NM_000100.3(CSTB):c.214_215TC[2] (p.Leu73fs) rs796943858
NM_000100.3(CSTB):c.67-1G>C rs147484110
NM_000109.4(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000109.4(DMD):c.3579+2_3579+3insTA
NM_000109.4(DMD):c.70-16dup rs3834997
NM_000110.3(DPYD):c.1601G>A (p.Ser534Asn) rs1801158
NM_000110.3(DPYD):c.1627A>G (p.Ile543Val) rs1801159
NM_000110.3(DPYD):c.1905+1G>A rs3918290
NM_000110.3(DPYD):c.2194G>A (p.Val732Ile) rs1801160
NM_000110.3(DPYD):c.496A>G (p.Met166Val) rs2297595
NM_000117.2(EMD):c.396C>T (p.His132=) rs145985318
NM_000117.2(EMD):c.454C>T (p.Arg152Cys) rs376456050
NM_000117.2(EMD):c.537G>A (p.Leu179=) rs368661339
NM_000122.1(ERCC3):c.1027+3A>G rs4150417
NM_000122.1(ERCC3):c.618C>T (p.Ala206=) rs145830873
NM_000142.4(FGFR3):c.1959+8C>T rs371666188
NM_000144.5(FXN):c.123C>T (p.Gly41=) rs1057519131
NM_000144.5(FXN):c.179G>A (p.Arg60His) rs141858334
NM_000144.5(FXN):c.226A>G (p.Met76Val) rs59907886
NM_000144.5(FXN):c.384+8T>C
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598
NM_000156.6(GAMT):c.581T>C (p.Val194Ala) rs147739199
NM_000156.6(GAMT):c.670G>A (p.Ala224Thr) rs141471799
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152
NM_000161.3(GCH1):c.*12T>C rs190993883
NM_000161.3(GCH1):c.*20C>T rs143111433
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu) rs56127440
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432
NM_000161.3(GCH1):c.747G>C (p.Arg249Ser) rs104894442
NM_000162.5(GCK):c.1019+18G>A rs150914617
NM_000162.5(GCK):c.1020-10C>A rs193922257
NM_000162.5(GCK):c.106C>T (p.Arg36Trp) rs762263694
NM_000162.5(GCK):c.1130G>A (p.Arg377His) rs193922264
NM_000162.5(GCK):c.1136C>A (p.Ala379Glu) rs193922265
NM_000162.5(GCK):c.1190G>T (p.Arg397Leu) rs193929375
NM_000162.5(GCK):c.122T>C (p.Met41Thr) rs1057524906
NM_000162.5(GCK):c.1288C>T (p.Leu430=) rs193922276
NM_000162.5(GCK):c.1322C>T (p.Ser441Leu) rs1286804191
NM_000162.5(GCK):c.1364T>A (p.Val455Glu) rs753795627
NM_000162.5(GCK):c.175C>T (p.Pro59Ser) rs193922287
NM_000162.5(GCK):c.209-8G>A rs144798843
NM_000162.5(GCK):c.31G>A (p.Ala11Thr) rs116093166
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250
NM_000162.5(GCK):c.363+10G>A rs758495950
NM_000162.5(GCK):c.364-18A>G rs191255582
NM_000162.5(GCK):c.364-1G>A rs1057521094
NM_000162.5(GCK):c.364C>A (p.Leu122Ile) rs1554335616
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800
NM_000162.5(GCK):c.46-12C>T rs142829768
NM_000162.5(GCK):c.483+14A>G rs74852379
NM_000162.5(GCK):c.540T>G (p.Asn180Lys) rs1554335444
NM_000162.5(GCK):c.542T>C (p.Val181Ala) rs193922306
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000162.5(GCK):c.605T>C (p.Met202Thr) rs193922311
NM_000162.5(GCK):c.616A>C (p.Thr206Pro) rs587780346
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656
NM_000162.5(GCK):c.660C>T (p.Cys220=) rs142952813
NM_000162.5(GCK):c.661G>A (p.Glu221Lys) rs193922317
NM_000162.5(GCK):c.666C>T (p.Val222=) rs193922318
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934
NM_000162.5(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.5(GCK):c.730G>A (p.Val244Met) rs1240035630
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000162.5(GCK):c.833A>T (p.Asp278Val) rs193922333
NM_000162.5(GCK):c.863+3A>G rs193922334
NM_000162.5(GCK):c.917T>C (p.Leu306Pro) rs193922337
NM_000162.5(GCK):c.9C>T (p.Asp3=) rs142553382
NM_000163.5(GHR):c.1630A>C (p.Ile544Leu) rs6180
NM_000163.5(GHR):c.1735C>A (p.Pro579Thr) rs6184
NM_000163.5(GHR):c.484G>A (p.Val162Ile) rs6413484
NM_000166.6(GJB1):c.-101C>T rs961829342
NM_000166.6(GJB1):c.-27C>T rs879254157
NM_000166.6(GJB1):c.-77G>A rs190676487
NM_000166.6(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_000166.6(GJB1):c.112G>A (p.Val38Met) rs879254012
NM_000166.6(GJB1):c.148T>C (p.Ser50Pro) rs913934445
NM_000166.6(GJB1):c.175G>C (p.Gly59Arg) rs1555937077
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg) rs879254097
NM_000166.6(GJB1):c.266T>C (p.Leu89Pro) rs1555937122
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.6(GJB1):c.297A>G (p.Gln99=) rs1213746899
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly) rs779696968
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg) rs104894818
NM_000166.6(GJB1):c.478T>C (p.Tyr160His) rs1555937197
NM_000166.6(GJB1):c.479A>G (p.Tyr160Cys)
NM_000166.6(GJB1):c.507C>T (p.Asp169=) rs373334326
NM_000166.6(GJB1):c.524dup (p.Asn175fs) rs1569215346
NM_000166.6(GJB1):c.540C>G (p.Phe180Leu) rs771022595
NM_000166.6(GJB1):c.541G>A (p.Val181Met) rs879253909
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000166.6(GJB1):c.548G>A (p.Arg183His) rs1555937233
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser) rs104894822
NM_000166.6(GJB1):c.622G>A (p.Glu208Lys) rs1555937270
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp) rs879254099
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000170.2(GLDC):c.1156-7C>G rs150095531
NM_000170.2(GLDC):c.1384C>G (p.Leu462Val) rs73400312
NM_000170.2(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.1927-9A>G rs41281773
NM_000170.2(GLDC):c.2352C>T (p.Pro784=) rs367781728
NM_000170.2(GLDC):c.2380G>A (p.Ala794Thr) rs141933811
NM_000170.2(GLDC):c.2730G>A (p.Ser910=) rs144937031
NM_000170.2(GLDC):c.2919+3A>G rs73639325
NM_000170.2(GLDC):c.498T>C (p.Pro166=) rs150193069
NM_000170.2(GLDC):c.666T>C (p.Asp222=) rs12004164
NM_000170.2(GLDC):c.671G>A (p.Arg224His) rs28617412
NM_000170.2(GLDC):c.871T>G (p.Cys291Gly) rs141014950
NM_000193.4(SHH):c.1078C>T (p.Leu360=) rs191903572
NM_000193.4(SHH):c.570G>A (p.Ser190=) rs9333633
NM_000193.4(SHH):c.869G>A (p.Gly290Asp) rs104894047
NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp) rs1555518481
NM_000207.3(INS):c.*9C>T rs3842752
NM_000207.3(INS):c.287G>A (p.Cys96Tyr) rs80356671
NM_000209.4(PDX1):c.162G>A (p.Leu54=) rs28509441
NM_000209.4(PDX1):c.165C>A (p.Gly55=) rs530567443
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783
NM_000209.4(PDX1):c.336C>G (p.Pro112=) rs149275902
NM_000209.4(PDX1):c.6C>T (p.Asn2=) rs146936598
NM_000217.3(KCNA1):c.114C>T (p.Arg38=) rs146308797
NM_000217.3(KCNA1):c.1327C>G (p.Arg443Gly) rs150849316
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) rs4766309
NM_000217.3(KCNA1):c.393G>A (p.Arg131=) rs142184899
NM_000217.3(KCNA1):c.611G>A (p.Arg204His) rs2229000
NM_000217.3(KCNA1):c.684T>C (p.Cys228=) rs1048500
NM_000217.3(KCNA1):c.804G>C (p.Thr268=) rs2227910
NM_000219.6(KCNE1):c.24G>A (p.Ala8=) rs144094344
NM_000220.5(KCNJ1):c.256A>G (p.Thr86Ala) rs41302407
NM_000231.2(SGCG):c.195+4_195+7del rs797045106
NM_000231.2(SGCG):c.228T>C (p.Asp76=) rs1800350
NM_000231.2(SGCG):c.347G>A (p.Arg116His) rs17314986
NM_000231.2(SGCG):c.435C>T (p.Asn145=) rs35628352
NM_000231.2(SGCG):c.705T>C (p.Leu235=) rs1800353
NM_000231.2(SGCG):c.787G>A (p.Glu263Lys) rs104894423
NM_000231.2(SGCG):c.832G>A (p.Gly278Ser) rs147820869
NM_000232.4(SGCB):c.341C>T (p.Ser114Phe) rs150518260
NM_000232.4(SGCB):c.430-5dup rs762831481
NM_000232.4(SGCB):c.799C>T (p.Arg267Cys) rs200761715
NM_000232.4(SGCB):c.9_14dup (p.Ala8_Ala9dup) rs886044103
NM_000244.3(MEN1):c.1636G>A (p.Ala546Thr) rs2959656
NM_000244.3(MEN1):c.435C>T (p.Ser145=) rs61736636
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781
NM_000257.4(MYH7):c.2162+4G>A rs145738465
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831
NM_000257.4(MYH7):c.3853+7C>T rs45467397
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=) rs3729821
NM_000257.4(MYH7):c.4353+10G>A rs202205780
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) rs61737803
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823
NM_000257.4(MYH7):c.5361A>G (p.Glu1787=) rs201171029
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570
NM_000257.4(MYH7):c.930T>C (p.Tyr310=) rs111626355
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) rs35641839
NM_000260.4(MYO7A):c.2187+1G>A rs111033290
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606
NM_000260.4(MYO7A):c.288G>A (p.Thr96=) rs56023295
NM_000260.4(MYO7A):c.3750+9G>A rs111033252
NM_000260.4(MYO7A):c.3828G>A (p.Ser1276=) rs78871677
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu) rs111033183
NM_000260.4(MYO7A):c.468C>T (p.Ile156=) rs12420129
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410
NM_000260.4(MYO7A):c.5559C>T (p.His1853=) rs373612656
NM_000260.4(MYO7A):c.593-5C>T rs762666
NM_000260.4(MYO7A):c.6063G>A (p.Lys2021=) rs111033209
NM_000260.4(MYO7A):c.6240C>T (p.Ser2080=) rs41298757
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) rs111033230
NM_000267.3(NF1):c.2022C>T (p.Ser674=) rs2230851
NM_000267.3(NF1):c.2034G>A (p.Pro678=) rs2285892
NM_000267.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_000267.3(NF1):c.4206A>G (p.Glu1402=) rs17886566
NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter) rs760703505
NM_000267.3(NF1):c.4819T>C (p.Leu1607=) rs10512435
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_000267.3(NF1):c.655-29T>C rs182325576
NM_000287.4(PEX6):c.1234-8_1234-7dup rs200121485
NM_000287.4(PEX6):c.207C>T (p.Pro69=) rs11539736
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304
NM_000287.4(PEX6):c.235G>C (p.Ala79Pro) rs61752141
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695
NM_000288.4(PEX7):c.339+10A>G rs374668045
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896
NM_000297.4(PKD2):c.1898+5G>A rs1553926929
NM_000297.4(PKD2):c.2240+1G>A rs1553927783
NM_000297.4(PKD2):c.290_292AGG[7] (p.Glu102dup) rs750077647
NM_000297.4(PKD2):c.420G>A (p.Gly140=) rs2728118
NM_000297.4(PKD2):c.444C>T (p.Gly148=) rs181704860
NM_000297.4(PKD2):c.570G>T (p.Ala190=) rs541702320
NM_000297.4(PKD2):c.784G>A (p.Val262Met) rs138132026
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453
NM_000304.4(PMP22):c.138del (p.Ser47fs) rs864622180
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro) rs104894623
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro) rs1555565276
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr) rs141094419
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg) rs906563423
NM_000306.4(POU1F1):c.666-5G>A rs76296626
NM_000310.3(PPT1):c.401T>C (p.Ile134Thr) rs1800205
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000310.3(PPT1):c.535C>T (p.Arg179Cys) rs560471003
NM_000334.4(SCN4A):c.1100+7G>A rs200770684
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=) rs16947296
NM_000334.4(SCN4A):c.1281C>T (p.Phe427=) rs369445518
NM_000334.4(SCN4A):c.1333G>C (p.Val445Leu) rs121908552
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr) rs185941768
NM_000334.4(SCN4A):c.154C>T (p.Arg52Trp) rs201379704
NM_000334.4(SCN4A):c.1653C>T (p.Cys551=) rs201199086
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg) rs187401185
NM_000334.4(SCN4A):c.1902C>T (p.Pro634=) rs368811155
NM_000334.4(SCN4A):c.1935C>T (p.Phe645=) rs181494727
NM_000334.4(SCN4A):c.1947C>T (p.Ile649=) rs564134251
NM_000334.4(SCN4A):c.204C>T (p.Tyr68=) rs80266947
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000334.4(SCN4A):c.211C>T (p.Pro71Ser) rs187055074
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=) rs76894284
NM_000334.4(SCN4A):c.2386C>G (p.Leu796Val) rs750053946
NM_000334.4(SCN4A):c.2419G>A (p.Ala807Thr) rs770694096
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) rs372019457
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) rs201148948
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125
NM_000334.4(SCN4A):c.2645C>A (p.Pro882Gln) rs111858905
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) rs200517944
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682
NM_000334.4(SCN4A):c.2748C>G (p.Asn916Lys) rs115379510
NM_000334.4(SCN4A):c.2989+5G>A rs115695396
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229
NM_000334.4(SCN4A):c.318C>T (p.Ser106=) rs138670794
NM_000334.4(SCN4A):c.3395G>A (p.Arg1132Gln) rs80338789
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958
NM_000334.4(SCN4A):c.3473C>T (p.Pro1158Leu) rs1555601448
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile) rs41280110
NM_000334.4(SCN4A):c.365G>A (p.Arg122His) rs374529559
NM_000334.4(SCN4A):c.366C>T (p.Arg122=) rs41280108
NM_000334.4(SCN4A):c.3720+10A>G rs111679484
NM_000334.4(SCN4A):c.4108A>G (p.Met1370Val) rs80338960
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=) rs141215137
NM_000334.4(SCN4A):c.4288+10G>T rs114059193
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000334.4(SCN4A):c.4605G>C (p.Ser1535=)
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192
NM_000334.4(SCN4A):c.483-9C>A rs201552497
NM_000334.4(SCN4A):c.4863C>T (p.Tyr1621=) rs769625349
NM_000334.4(SCN4A):c.4905C>T (p.Ile1635=) rs59081944
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile) rs1064794243
NM_000334.4(SCN4A):c.5293G>A (p.Ala1765Thr) rs531694454
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=) rs189230866
NM_000334.4(SCN4A):c.726C>T (p.Ala242=) rs73326368
NM_000334.4(SCN4A):c.903C>T (p.Tyr301=) rs201411232
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg) rs199676994
NM_000334.4(SCN4A):c.963C>T (p.Asn321=) rs748863960
NM_000334.4(SCN4A):c.969G>A (p.Thr323=) rs1429424012
NM_000334.4(SCN4A):c.999C>T (p.Asn333=) rs149726115
NM_000336.3(SCNN1B):c.1162C>T (p.Arg388Cys) rs61729788
NM_000336.3(SCNN1B):c.1401C>T (p.Ser467=) rs74012901
NM_000336.3(SCNN1B):c.1543-17C>T rs35074083
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153
NM_000336.3(SCNN1B):c.777-5T>C rs61759915
NM_000337.5(SGCD):c.*2A>C rs200757725
NM_000337.5(SGCD):c.290G>A (p.Arg97Gln) rs45559835
NM_000337.5(SGCD):c.507G>A (p.Ala169=) rs10071079
NM_000337.5(SGCD):c.510G>A (p.Glu170=) rs368838376
NM_000337.5(SGCD):c.699+18C>G rs180898690
NM_000338.3(SLC12A1):c.189G>A (p.Arg63=)
NM_000338.3(SLC12A1):c.71G>A (p.Ser24Asn)
NM_000339.3(SLC12A3):c.1023C>T (p.Phe341=) rs2229209
NM_000339.3(SLC12A3):c.1395C>T (p.Thr465=) rs5801
NM_000339.3(SLC12A3):c.1825+9C>A rs35797045
NM_000339.3(SLC12A3):c.1884G>A (p.Ser628=) rs5802
NM_000339.3(SLC12A3):c.1964G>A (p.Arg655His) rs121909380
NM_000339.3(SLC12A3):c.2142C>T (p.Ala714=) rs5803
NM_000339.3(SLC12A3):c.2179-8C>T rs13306676
NM_000339.3(SLC12A3):c.2573T>A (p.Leu858His) rs185927948
NM_000339.3(SLC12A3):c.2625C>T (p.Gly875=) rs5804
NM_000339.3(SLC12A3):c.2738G>A (p.Arg913Gln) rs11643718
NM_000339.3(SLC12A3):c.366A>G (p.Ala122=) rs2304479
NM_000344.3(SMN1):c.419A>T (p.Asp140Val) rs1554081968
NM_000344.3(SMN1):c.462A>G (p.Gln154=) rs4915
NM_000344.3(SMN1):c.785G>T (p.Ser262Ile) rs1554066659
NM_000344.3(SMN1):c.815A>G (p.Tyr272Cys) rs104893922
NM_000344.3(SMN1):c.818A>T (p.His273Leu) rs1554082114
NM_000344.3(SMN1):c.821C>T (p.Thr274Ile) rs1554066666
NM_000344.3(SMN1):c.840C>T (p.Phe280=) rs1164325688
NM_000344.3(SMN1):c.93_96dup (p.Ile33Ter) rs1554081950
NM_000349.3(STAR):c.153G>A (p.Gln51=) rs72552290
NM_000349.3(STAR):c.505G>A (p.Glu169Lys) rs747169620
NM_000349.3(STAR):c.545G>A (p.Arg182His) rs104894086
NM_000356.4(TCOF1):c.2531C>T (p.Pro844Leu) rs150515843
NM_000356.4(TCOF1):c.3773A>G (p.Lys1258Arg) rs55980697
NM_000356.4(TCOF1):c.3819G>A (p.Ser1273=) rs114169102
NM_000356.4(TCOF1):c.4061G>C (p.Gly1354Ala) rs45491898
NM_000356.4(TCOF1):c.579G>A (p.Ala193=) rs142965998
NM_000356.4(TCOF1):c.640-1981_640-1964del rs528897827
NM_000356.4(TCOF1):c.797G>A (p.Ser266Asn) rs144327167
NM_000356.4(TCOF1):c.889G>T (p.Ala297Ser) rs112039991
NM_000360.4(TH):c.1035G>T (p.Ala345=) rs11826260
NM_000360.4(TH):c.1170C>G (p.Ala390=) rs199839852
NM_000360.4(TH):c.1255G>A (p.Val419Met) rs184106392
NM_000360.4(TH):c.1278G>A (p.Thr426=) rs36097848
NM_000360.4(TH):c.1401C>T (p.Asp467=) rs3842724
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599
NM_000360.4(TH):c.186G>A (p.Ser62=) rs34510659
NM_000360.4(TH):c.210T>C (p.Ala70=) rs7950050
NM_000360.4(TH):c.627C>G (p.Ile209Met) rs202149985
NM_000368.4(TSC1):c.-129A>T rs116951280
NM_000368.4(TSC1):c.1335A>G (p.Glu445=) rs7862221
NM_000368.4(TSC1):c.135G>A (p.Leu45=) rs149278759
NM_000368.4(TSC1):c.1701G>A (p.Ala567=) rs35478675
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000368.4(TSC1):c.2065C>T (p.Arg689Cys) rs202241429
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.4(TSC1):c.2285A>G (p.Asn762Ser) rs118203670
NM_000368.4(TSC1):c.2829C>T (p.Ala943=) rs4962081
NM_000368.4(TSC1):c.2865C>T (p.Thr955=) rs45468995
NM_000368.4(TSC1):c.3282G>A (p.Glu1094=) rs116747861
NM_000368.4(TSC1):c.340C>T (p.Pro114Ser) rs779395169
NM_000368.4(TSC1):c.851G>A (p.Arg284His) rs151309813
NM_000368.4(TSC1):c.915G>C (p.Gly305=) rs397515293
NM_000368.4(TSC1):c.917G>A (p.Cys306Tyr) rs752290177
NM_000368.4(TSC1):c.965T>C (p.Met322Thr) rs1073123
NM_000370.3(TTPA):c.2T>C (p.Met1Thr) rs786204758
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) rs397515379
NM_000370.3(TTPA):c.558A>G (p.Ser186=) rs774283073
NM_000370.3(TTPA):c.664-4T>G rs2045224
NM_000371.3(TTR):c.165G>T (p.Lys55Asn) rs1567945684
NM_000371.3(TTR):c.238A>G (p.Thr80Ala) rs121918070
NM_000371.3(TTR):c.349G>T (p.Ala117Ser) rs267607161
NM_000371.3(TTR):c.354C>T (p.Asn118=) rs11541797
NM_000371.3(TTR):c.360C>T (p.Ser120=) rs150127220
NM_000371.3(TTR):c.384C>T (p.Ala128=) rs143906738
NM_000371.3(TTR):c.386C>T (p.Ala129Val) rs121918092
NM_000371.3(TTR):c.416C>T (p.Thr139Met) rs28933981
NM_000371.3(TTR):c.417G>A (p.Thr139=) rs2276382
NM_000371.3(TTR):c.88T>C (p.Cys30Arg) rs121918083
NM_000383.4(AIRE):c.1095+6G>A rs1800525
NM_000383.4(AIRE):c.1197T>C (p.Ala399=) rs1800521
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000383.4(AIRE):c.1566+8C>T rs72650680
NM_000383.4(AIRE):c.1578T>C (p.Asp526=) rs1133779
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter) rs1057517241
NM_000383.4(AIRE):c.588C>T (p.Ser196=) rs878081
NM_000383.4(AIRE):c.652+14C>T rs41277546
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
NM_000388.4(CASR):c.1393C>T (p.Arg465Trp) rs751217000
NM_000388.4(CASR):c.165G>A (p.Pro55=) rs200018529
NM_000388.4(CASR):c.1775A>G (p.Asn592Ser) rs117375173
NM_000388.4(CASR):c.2039G>A (p.Arg680His) rs773146939
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744
NM_000388.4(CASR):c.2383C>T (p.Arg795Trp) rs121909258
NM_000388.4(CASR):c.2730C>A (p.Pro910=) rs34200949
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) rs142704083
NM_000388.4(CASR):c.3234A>T (p.Ser1078=) rs556263764
NM_000388.4(CASR):c.573G>A (p.Glu191=) rs141631116
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143
NM_000388.4(CASR):c.73C>T (p.Arg25Ter) rs201633414
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln) rs138744051
NM_000391.4(TPP1):c.1266+5G>A rs1800753
NM_000391.4(TPP1):c.1497T>C (p.Pro499=) rs142672910
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly) rs148064565
NM_000391.4(TPP1):c.381-10dup rs146315473
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe) rs139059149
NM_000391.4(TPP1):c.553C>T (p.Arg185Cys) rs34758634
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000391.4(TPP1):c.83G>A (p.Arg28Gln) rs369126677
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036
NM_000399.5(EGR2):c.1086A>C (p.Arg362=) rs45602133
NM_000399.5(EGR2):c.108G>A (p.Val36=) rs746579337
NM_000400.3(ERCC2):c.477+9A>C rs1799785
NM_000400.3(ERCC2):c.718+6G>T rs3916812
NM_000400.4(ERCC2):c.1866C>T (p.Gly622=)
NM_000406.2(GNRHR):c.453C>T (p.Ser151=) rs4986942
NM_000414.4(HSD17B4):c.*6A>G rs111671384
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile) rs28943592
NM_000414.4(HSD17B4):c.2182A>G (p.Met728Val) rs28943594
NM_000414.4(HSD17B4):c.2199C>T (p.Tyr733=) rs12714
NM_000414.4(HSD17B4):c.420A>T (p.Lys140Asn) rs28943589
NM_000426.3(LAMA2):c.1308T>G (p.Gly436=) rs41285286
NM_000426.3(LAMA2):c.1400A>G (p.Lys467Arg) rs138162760
NM_000426.3(LAMA2):c.1403C>G (p.Ala468Gly) rs111695726
NM_000426.3(LAMA2):c.156C>T (p.Ile52=) rs1140366
NM_000426.3(LAMA2):c.1621A>G (p.Ser541Gly) rs141363186
NM_000426.3(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923
NM_000426.3(LAMA2):c.1650C>T (p.Gly550=) rs899353
NM_000426.3(LAMA2):c.2430A>C (p.Pro810=) rs147572139
NM_000426.3(LAMA2):c.3296A>G (p.Asn1099Ser) rs35065563
NM_000426.3(LAMA2):c.411G>A (p.Ala137=) rs149347601
NM_000426.3(LAMA2):c.4437-5T>A rs41285288
NM_000426.3(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184
NM_000426.3(LAMA2):c.4935C>A (p.Thr1645=) rs35579821
NM_000426.3(LAMA2):c.4956C>G (p.Thr1652=) rs17057184
NM_000426.3(LAMA2):c.5247C>T (p.Ala1749=) rs149951387
NM_000426.3(LAMA2):c.5689G>A (p.Ala1897Thr) rs200518204
NM_000426.3(LAMA2):c.5909G>C (p.Cys1970Ser) rs148451013
NM_000426.3(LAMA2):c.6150T>C (p.Asp2050=) rs114766691
NM_000426.3(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053
NM_000426.3(LAMA2):c.6274+4C>T rs73775410
NM_000426.3(LAMA2):c.6429+8C>A rs199773264
NM_000426.3(LAMA2):c.6539A>T (p.Asp2180Val) rs567385461
NM_000426.3(LAMA2):c.675C>T (p.Ala225=) rs139665175
NM_000426.3(LAMA2):c.7074C>A (p.Tyr2358Ter) rs762806915
NM_000426.3(LAMA2):c.7118C>T (p.Ser2373Leu)
NM_000426.3(LAMA2):c.7395T>C (p.Asp2465=) rs140483001
NM_000426.3(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843
NM_000426.3(LAMA2):c.8028T>C (p.Asn2676=) rs35313209
NM_000426.3(LAMA2):c.8244+3_8244+6del rs746678525
NM_000426.3(LAMA2):c.8528A>G (p.Asn2843Ser) rs73599293
NM_000426.3(LAMA2):c.8548-10T>C rs113644365
NM_000426.3(LAMA2):c.8586T>C (p.Tyr2862=) rs142451929
NM_000426.3(LAMA2):c.8692A>C (p.Arg2898=) rs200718262
NM_000426.3(LAMA2):c.8755C>T (p.Pro2919Ser) rs143026295
NM_000426.3(LAMA2):c.9123C>T (p.Val3041=) rs61749497
NM_000426.3(LAMA2):c.922G>A (p.Glu308Lys) rs146462599
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=) rs150380620
NM_000435.3(NOTCH3):c.1036+10C>T rs776962888
NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=) rs61749020
NM_000435.3(NOTCH3):c.120C>G (p.Ala40=) rs146904189
NM_000435.3(NOTCH3):c.1258G>T (p.Gly420Cys) rs1323608032
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr) rs886041513
NM_000435.3(NOTCH3):c.1426A>T (p.Ser476Cys) rs886054260
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu) rs11670799
NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu) rs114207045
NM_000435.3(NOTCH3):c.1607-5C>A rs372869012
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.1725G>A (p.Thr575=) rs79926127
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303
NM_000435.3(NOTCH3):c.1840+8C>T rs372100017
NM_000435.3(NOTCH3):c.2039G>A (p.Arg680His) rs10406745
NM_000435.3(NOTCH3):c.203C>T (p.Pro68Leu) rs146810942
NM_000435.3(NOTCH3):c.227G>A (p.Cys76Tyr) rs1568362252
NM_000435.3(NOTCH3):c.245G>T (p.Cys82Phe) rs1023306013
NM_000435.3(NOTCH3):c.2507C>T (p.Thr836Ile)
NM_000435.3(NOTCH3):c.2580C>T (p.Asn860=) rs201436750
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys) rs1167405466
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.3399C>A (p.His1133Gln) rs112197217
NM_000435.3(NOTCH3):c.3569G>A (p.Arg1190His) rs372241697
NM_000435.3(NOTCH3):c.3658C>T (p.Arg1220Trp)
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.4025C>A (p.Ala1342Asp)
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093
NM_000435.3(NOTCH3):c.436T>C (p.Cys146Arg) rs1555729510
NM_000435.3(NOTCH3):c.4639C>G (p.Leu1547Val) rs150037063
NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro) rs78501403
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451
NM_000435.3(NOTCH3):c.5114+10C>G rs369547319
NM_000435.3(NOTCH3):c.5200-4C>A
NM_000435.3(NOTCH3):c.5370C>T (p.Phe1790=) rs35887416
NM_000435.3(NOTCH3):c.5376G>A (p.Pro1792=) rs374875084
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213
NM_000435.3(NOTCH3):c.5895G>A (p.Lys1965=) rs140567100
NM_000435.3(NOTCH3):c.591C>T (p.Pro197=)
NM_000435.3(NOTCH3):c.6031G>A (p.Val2011Ile) rs142007575
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348
NM_000435.3(NOTCH3):c.6237G>A (p.Gly2079=) rs376598183
NM_000435.3(NOTCH3):c.665G>A (p.Cys222Tyr) rs1555729452
NM_000435.3(NOTCH3):c.6747C>T (p.Pro2249=)
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met) rs148716935
NM_000435.3(NOTCH3):c.6813T>C (p.Pro2271=) rs61731974
NM_000435.3(NOTCH3):c.825G>A (p.Val275=) rs138837495
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243
NM_000441.2(SLC26A4):c.1545-5T>G rs77944876
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr) rs146269871
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619
NM_000444.6(PHEX):c.1482+1G>A rs1064793228
NM_000444.6(PHEX):c.957G>A (p.Lys319=) rs373261521
NM_000445.5(PLEC):c.10006C>T (p.Arg3336Cys) rs77303974
NM_000445.5(PLEC):c.10007G>A (p.Arg3336His) rs201369301
NM_000445.5(PLEC):c.10042G>A (p.Gly3348Arg) rs34132016
NM_000445.5(PLEC):c.10139G>C (p.Gly3380Ala) rs35261863
NM_000445.5(PLEC):c.10383C>A (p.Thr3461=) rs199879193
NM_000445.5(PLEC):c.10498G>A (p.Gly3500Ser) rs201765507
NM_000445.5(PLEC):c.10693T>C (p.Leu3565=) rs6992333
NM_000445.5(PLEC):c.10809C>T (p.Gly3603=) rs372840016
NM_000445.5(PLEC):c.10840C>T (p.Leu3614=) rs200006106
NM_000445.5(PLEC):c.11001C>T (p.Tyr3667=) rs28455570
NM_000445.5(PLEC):c.11170C>T (p.Leu3724=) rs17062686
NM_000445.5(PLEC):c.11675G>A (p.Arg3892His) rs200722246
NM_000445.5(PLEC):c.11715G>A (p.Ser3905=) rs375097273
NM_000445.5(PLEC):c.11967A>G (p.Thr3989=) rs6558406
NM_000445.5(PLEC):c.12324C>T (p.Thr4108=) rs185022156
NM_000445.5(PLEC):c.12696C>T (p.Ile4232=) rs202116866
NM_000445.5(PLEC):c.12723C>T (p.Ile4241=) rs111227648
NM_000445.5(PLEC):c.12898C>T (p.Pro4300Ser) rs202040785
NM_000445.5(PLEC):c.12918C>T (p.Pro4306=) rs759030267
NM_000445.5(PLEC):c.133G>A (p.Gly45Ser) rs201820569
NM_000445.5(PLEC):c.13531G>A (p.Gly4511Ser) rs782650176
NM_000445.5(PLEC):c.13717G>A (p.Val4573Met) rs573424409
NM_000445.5(PLEC):c.1710G>T (p.Glu570Asp) rs201164522
NM_000445.5(PLEC):c.1787G>A (p.Arg596Gln) rs3135103
NM_000445.5(PLEC):c.1905C>T (p.Ser635=) rs201927593
NM_000445.5(PLEC):c.2050A>T (p.Ser684Cys) rs199843296
NM_000445.5(PLEC):c.2221A>G (p.Ile741Val) rs189137260
NM_000445.5(PLEC):c.2349C>T (p.Thr783=) rs371267446
NM_000445.5(PLEC):c.2539-8C>T rs201818691
NM_000445.5(PLEC):c.255+10del rs528031000
NM_000445.5(PLEC):c.2559C>T (p.Asp853=) rs202135215
NM_000445.5(PLEC):c.2589G>A (p.Pro863=) rs116385960
NM_000445.5(PLEC):c.2632G>A (p.Val878Met) rs200647397
NM_000445.5(PLEC):c.2910G>A (p.Ala970=) rs369370495
NM_000445.5(PLEC):c.3252G>A (p.Ser1084=) rs371271326
NM_000445.5(PLEC):c.3582C>T (p.His1194=) rs782038506
NM_000445.5(PLEC):c.3669C>T (p.Asp1223=) rs377059744
NM_000445.5(PLEC):c.3826C>A (p.Arg1276=) rs201552166
NM_000445.5(PLEC):c.3838-9A>G rs57461687
NM_000445.5(PLEC):c.3859C>G (p.Arg1287Gly) rs151022876
NM_000445.5(PLEC):c.3868G>A (p.Glu1290Lys) rs377125427
NM_000445.5(PLEC):c.4039C>T (p.Arg1347Cys) rs372256096
NM_000445.5(PLEC):c.4302G>A (p.Ala1434=) rs185790521
NM_000445.5(PLEC):c.4304C>T (p.Ala1435Val) rs111851716
NM_000445.5(PLEC):c.4447G>A (p.Val1483Met) rs186848953
NM_000445.5(PLEC):c.4527G>A (p.Ala1509=) rs782202249
NM_000445.5(PLEC):c.4557G>A (p.Ala1519=) rs55646585
NM_000445.5(PLEC):c.459T>C (p.Ala153=) rs6993938
NM_000445.5(PLEC):c.4637C>T (p.Ser1546Leu) rs182120395
NM_000445.5(PLEC):c.4679G>A (p.Arg1560Gln) rs201430180
NM_000445.5(PLEC):c.4732C>T (p.Arg1578Cys) rs2857824
NM_000445.5(PLEC):c.4935C>T (p.Ala1645=) rs7011480
NM_000445.5(PLEC):c.4954G>A (p.Glu1652Lys) rs187338487
NM_000445.5(PLEC):c.5061C>T (p.Ala1687=) rs199612329
NM_000445.5(PLEC):c.5110G>A (p.Gly1704Ser) rs373952777
NM_000445.5(PLEC):c.5246C>T (p.Thr1749Met) rs377665141
NM_000445.5(PLEC):c.5308G>A (p.Ala1770Thr) rs781946435
NM_000445.5(PLEC):c.5552C>T (p.Ala1851Val) rs542642242
NM_000445.5(PLEC):c.5558G>A (p.Arg1853Gln) rs147838690
NM_000445.5(PLEC):c.5754C>T (p.Ile1918=) rs191863619
NM_000445.5(PLEC):c.5793C>T (p.Ser1931=) rs115735672
NM_000445.5(PLEC):c.5892G>A (p.Ala1964=) rs199990259
NM_000445.5(PLEC):c.6102G>A (p.Ala2034=) rs200338935
NM_000445.5(PLEC):c.6150C>G (p.Arg2050=) rs376365984
NM_000445.5(PLEC):c.621C>T (p.Cys207=) rs189256993
NM_000445.5(PLEC):c.6243C>T (p.His2081=) rs563719398
NM_000445.5(PLEC):c.6251C>T (p.Ala2084Val) rs7002002
NM_000445.5(PLEC):c.6321C>T (p.Arg2107=) rs576688705
NM_000445.5(PLEC):c.6347C>T (p.Ala2116Val) rs782278608
NM_000445.5(PLEC):c.6489G>A (p.Glu2163=) rs200444977
NM_000445.5(PLEC):c.6675C>T (p.Thr2225=) rs144242254
NM_000445.5(PLEC):c.6810C>T (p.Leu2270=) rs368880818
NM_000445.5(PLEC):c.6838G>A (p.Ala2280Thr) rs62641756
NM_000445.5(PLEC):c.6859G>A (p.Asp2287Asn) rs371763907
NM_000445.5(PLEC):c.6867G>A (p.Thr2289=) rs373922545
NM_000445.5(PLEC):c.6926G>A (p.Arg2309Gln) rs782316711
NM_000445.5(PLEC):c.7348G>A (p.Ala2450Thr) rs193257576
NM_000445.5(PLEC):c.7834G>C (p.Glu2612Gln) rs200488179
NM_000445.5(PLEC):c.7911G>A (p.Ala2637=) rs376112916
NM_000445.5(PLEC):c.7961C>G (p.Pro2654Arg) rs184879368
NM_000445.5(PLEC):c.8106C>T (p.Gly2702=) rs35139934
NM_000445.5(PLEC):c.8121C>T (p.Asp2707=) rs373341589
NM_000445.5(PLEC):c.8132G>A (p.Arg2711Gln) rs200239963
NM_000445.5(PLEC):c.8526T>C (p.Val2842=) rs371421350
NM_000445.5(PLEC):c.8587G>A (p.Asp2863Asn) rs200814155
NM_000445.5(PLEC):c.8694C>T (p.Cys2898=) rs35821434
NM_000445.5(PLEC):c.8706C>T (p.Pro2902=) rs183401234
NM_000445.5(PLEC):c.882C>T (p.Asp294=) rs202218097
NM_000445.5(PLEC):c.8901C>G (p.Asp2967Glu) rs58308209
NM_000445.5(PLEC):c.9104G>A (p.Arg3035Gln) rs200176579
NM_000445.5(PLEC):c.9115G>A (p.Glu3039Lys) rs200898220
NM_000445.5(PLEC):c.935G>A (p.Arg312Gln) rs188076386
NM_000445.5(PLEC):c.9414G>A (p.Gly3138=) rs188739870
NM_000445.5(PLEC):c.9432C>T (p.Phe3144=) rs200895343
NM_000445.5(PLEC):c.9556G>A (p.Ala3186Thr) rs201030020
NM_000445.5(PLEC):c.9830C>T (p.Thr3277Met) rs201349099
NM_000445.5(PLEC):c.9976C>T (p.Arg3326Trp) rs142805337
NM_000447.3(PSEN2):c.129C>T (p.Asn43=) rs6759
NM_000447.3(PSEN2):c.166G>A (p.Gly56Ser) rs188598190
NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp) rs140501902
NM_000447.3(PSEN2):c.261C>T (p.His87=) rs1046240
NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro) rs63749851
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) rs63750197
NM_000447.3(PSEN2):c.415G>A (p.Val139Met) rs202178897
NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile) rs63750215
NM_000447.3(PSEN2):c.441C>T (p.Ser147=) rs114334281
NM_000447.3(PSEN2):c.69T>C (p.Ala23=) rs11405
NM_000447.3(PSEN2):c.708T>C (p.Ser236=) rs61730652
NM_000447.3(PSEN2):c.756G>C (p.Ala252=) rs147702142
NM_000447.3(PSEN2):c.954C>T (p.Pro318=) rs199587016
NM_000451.3(SHOX):c.144G>A (p.Glu48=) rs750638027
NM_000451.3(SHOX):c.400C>A (p.Arg134=) rs193922467
NM_000451.3(SHOX):c.63C>T (p.Gly21=) rs142306835
NM_000451.3(SHOX):c.702G>A (p.Ala234=) rs576542942
NM_000451.3(SHOX):c.864G>A (p.Glu288=) rs781656634
NM_000451.3(SHOX):c.870G>A (p.Leu290=) rs746391025
NM_000454.4(SOD1):c.272A>C (p.Asp91Ala) rs80265967
NM_000454.4(SOD1):c.289G>A (p.Asp97Asn) rs121912459
NM_000454.4(SOD1):c.301G>A (p.Glu101Lys) rs76731700
NM_000454.4(SOD1):c.423T>A (p.Ala141=) rs143100660
NM_000457.4(HNF4A):c.116-5C>T rs745975
NM_000457.4(HNF4A):c.290+17dup rs371937621
NM_000457.4(HNF4A):c.492+6G>A rs182980547
NM_000458.4(HNF1B):c.1045+12T>C rs141166864
NM_000458.4(HNF1B):c.1654-11_1654-9delinsC rs386134268
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys) rs144425830
NM_000458.4(HNF1B):c.657C>T (p.Ser219=) rs148713761
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys) rs202151409
NM_000458.4(HNF1B):c.884G>A (p.Arg295His) rs886043813
NM_000458.4(HNF1B):c.951C>G (p.Ala317=) rs145750370
NM_000462.5(UBE3A):c.1278C>T (p.Asp426=) rs149506027
NM_000462.5(UBE3A):c.1776C>T (p.Tyr592=) rs139082033
NM_000462.5(UBE3A):c.2133+9T>C rs79328837
NM_000462.5(UBE3A):c.2428A>G (p.Thr810Ala) rs374519603
NM_000462.5(UBE3A):c.591A>G (p.Ala197=) rs764101035
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544
NM_000466.3(PEX1):c.1671-7T>C rs74519968
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598
NM_000478.6(ALPL):c.1119C>T (p.Thr373=) rs112335417
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014
NM_000478.6(ALPL):c.1381G>A (p.Val461Ile) rs34810399
NM_000478.6(ALPL):c.1542G>T (p.Ala514=) rs3200256
NM_000478.6(ALPL):c.330= (p.Ser110=) rs1780316
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) rs148405563
NM_000481.3(AMT):c.631G>A (p.Glu211Lys) rs116192290
NM_000481.3(AMT):c.898A>G (p.Met300Val) rs144971200
NM_000484.4(APP):c.1299+9T>C rs114675472
NM_000484.4(APP):c.1458+10G>A rs201290605
NM_000484.4(APP):c.1614T>C (p.Tyr538=) rs45537238
NM_000484.4(APP):c.2124C>T (p.Gly708=) rs148888161
NM_000484.4(APP):c.2133C>A (p.Val711=) rs116650065
NM_000484.4(APP):c.2137G>A (p.Ala713Thr) rs63750066
NM_000484.4(APP):c.2143G>A (p.Val715Met) rs63750734
NM_000484.4(APP):c.592T>C (p.Ser198Pro) rs145081708
NM_000486.5(AQP2):c.190G>A (p.Gly64Arg) rs104894326
NM_000487.6(ARSA):c.1210+1G>A rs80338820
NM_000487.6(ARSA):c.243C>T (p.Gly81=) rs6151410
NM_000487.6(ARSA):c.459C>T (p.His153=) rs6151412
NM_000487.6(ARSA):c.585G>T (p.Trp195Cys) rs6151415
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472
NM_000489.5(ATRX):c.2000C>T (p.Pro667Leu) rs61752457
NM_000489.5(ATRX):c.2785= (p.Glu929=) rs3088074
NM_000489.5(ATRX):c.3527A>T (p.Lys1176Met) rs191563592
NM_000489.5(ATRX):c.3541G>C (p.Val1181Leu) rs61758732
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000489.5(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002
NM_000495.5(COL4A5):c.1032+5G>T rs104886315
NM_000495.5(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891
NM_000495.5(COL4A5):c.1779+1G>A rs104886337
NM_000495.5(COL4A5):c.2216C>A (p.Pro739His)
NM_000495.5(COL4A5):c.2696G>A (p.Gly899Asp) rs281874702
NM_000495.5(COL4A5):c.2858G>T (p.Gly953Val) rs78972735
NM_000495.5(COL4A5):c.3148C>T (p.Pro1050Ser) rs143945573
NM_000495.5(COL4A5):c.3731G>A (p.Gly1244Asp) rs104886261
NM_000495.5(COL4A5):c.3940C>T (p.Pro1314Ser) rs754836509
NM_000495.5(COL4A5):c.4675C>G (p.Pro1559Ala) rs104886295
NM_000495.5(COL4A5):c.4688G>A (p.Arg1563Gln) rs281874743
NM_000495.5(COL4A5):c.5030G>A (p.Arg1677Gln) rs104886308
NM_000495.5(COL4A5):c.646-6C>T
NM_000495.5(COL4A5):c.884G>A (p.Gly295Asp) rs104886079
NM_000497.3(CYP11B1):c.1003A>G (p.Asn335Asp) rs61752766
NM_000497.3(CYP11B1):c.1015G>A (p.Ala339Thr) rs193922534
NM_000497.3(CYP11B1):c.1098T>G (p.Arg366=) rs61752769
NM_000497.3(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000497.3(CYP11B1):c.1122-20A>G rs61752794
NM_000497.3(CYP11B1):c.1266C>T (p.Arg422=) rs4998902
NM_000497.3(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938
NM_000497.3(CYP11B1):c.1451T>A (p.Val484Asp) rs374517238
NM_000497.3(CYP11B1):c.243C>T (p.Tyr81=) rs9657022
NM_000497.3(CYP11B1):c.281C>T (p.Pro94Leu) rs104894070
NM_000497.3(CYP11B1):c.554C>G (p.Thr185Ser) rs566921201
NM_000497.3(CYP11B1):c.743C>T (p.Thr248Ile) rs34620645
NM_000497.3(CYP11B1):c.799+5G>C rs193922542
NM_000497.3(CYP11B1):c.841_842insACAGTACACCA (p.Ser281fs) rs775128501
NM_000497.3(CYP11B1):c.896T>C (p.Leu299Pro) rs387907573
NM_000497.4(CYP11B1):c.456C>G (p.Asn152Lys)
NM_000497.4(CYP11B1):c.459T>C (p.Ala153=)
NM_000500.7(CYP21A2):c.332_339delGAGACTAC (p.Gly111Valfs) rs387906510
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898
NM_000500.9(CYP21A2):c.*13G>A rs6447
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) rs7769409
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.308G>A (p.Arg103Lys) rs6474
NM_000500.9(CYP21A2):c.342C>T (p.Ser114=) rs193922546
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475
NM_000500.9(CYP21A2):c.552C>G (p.Asp184Glu) rs397515531
NM_000500.9(CYP21A2):c.597A>T (p.Leu199Phe)
NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr) rs6472
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) rs267606756
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251
NM_000503.6(EYA1):c.1699-3C>T rs117149407
NM_000503.6(EYA1):c.840C>A (p.Ile280=) rs55972891
NM_000515.5(GH1):c.-4T>G rs6173
NM_000525.3(KCNJ11):c.1009G>A (p.Val337Ile) rs5215
NM_000525.3(KCNJ11):c.1143G>A (p.Lys381=) rs8175351
NM_000525.3(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930
NM_000525.3(KCNJ11):c.149G>A (p.Arg50Gln) rs80356611
NM_000525.3(KCNJ11):c.570C>T (p.Ala190=) rs5218
NM_000525.3(KCNJ11):c.584G>A (p.Arg195His) rs5217
NM_000525.3(KCNJ11):c.602G>A (p.Arg201His) rs80356624
NM_000525.3(KCNJ11):c.678C>T (p.Pro226=) rs74162102
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) rs5219
NM_000525.3(KCNJ11):c.801C>G (p.Leu267=) rs5216
NM_000525.3(KCNJ11):c.808C>G (p.Leu270Val) rs1800467
NM_000527.4(LDLR):c.1060+10G>C rs12710260
NM_000527.4(LDLR):c.1060+7T>C rs2738442
NM_000527.4(LDLR):c.1171G>A (p.Ala391Thr) rs11669576
NM_000527.4(LDLR):c.1783C>T (p.Arg595Trp) rs373371572
NM_000527.4(LDLR):c.1911delC (p.Asp638Metfs) rs867272973
NM_000527.4(LDLR):c.2106G>A (p.Met702Ile) rs140731590
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.4(LDLR):c.680_681delAC (p.Asp227Glyfs) rs387906305
NM_000527.4(LDLR):c.682G>T (p.Glu228Ter) rs121908029
NM_000530.8(MPZ):c.106A>T (p.Arg36Trp) rs864622732
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) rs797044845
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys) rs121913585
NM_000530.8(MPZ):c.210C>T (p.Pro70=) rs545129173
NM_000530.8(MPZ):c.242A>G (p.His81Arg) rs121913594
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) rs121913584
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) rs121913589
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.385G>A (p.Val129Ile) rs201156403
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser) rs121913588
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.51G>A (p.Leu17=) rs149637045
NM_000530.8(MPZ):c.646-7C>G rs377495735
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129
NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del) rs755446743
NM_000530.8(MPZ):c.90C>G (p.Ile30Met) rs770546306
NM_000533.5(PLP1):c.-31C>T rs2233695
NM_000533.5(PLP1):c.168A>G (p.Gln56=) rs2233697
NM_000533.5(PLP1):c.609T>C (p.Asp203=) rs1126707
NM_000540.2(RYR1):c.10627-1G>C rs1568539909
NM_000540.2(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273
NM_000540.2(RYR1):c.12283-7C>T rs143861818
NM_000540.2(RYR1):c.131G>A (p.Arg44His) rs139161723
NM_000540.2(RYR1):c.13503G>A (p.Pro4501=) rs2960319
NM_000540.2(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.2(RYR1):c.14589C>T (p.Phe4863=) rs146072491
NM_000540.2(RYR1):c.2121C>A (p.Gly707=) rs146104858
NM_000540.2(RYR1):c.216G>T (p.Leu72=) rs113389877
NM_000540.2(RYR1):c.2241G>A (p.Leu747=) rs34097444
NM_000540.2(RYR1):c.2366G>A (p.Arg789Gln) rs200069592
NM_000540.2(RYR1):c.297G>A (p.Thr99=) rs144241486
NM_000540.2(RYR1):c.3326G>A (p.Arg1109Lys) rs35719391
NM_000540.2(RYR1):c.3972G>A (p.Ala1324=) rs200451188
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000540.2(RYR1):c.4719G>A (p.Pro1573=) rs35480887
NM_000540.2(RYR1):c.5565C>T (p.Gly1855=) rs61750975
NM_000540.2(RYR1):c.614G>C (p.Cys205Ser) rs201834803
NM_000540.2(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.2(RYR1):c.7615-7G>A rs146159174
NM_000540.2(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463
NM_000540.2(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584
NM_000540.2(RYR1):c.8616+7G>A rs200023171
NM_000545.6(HNF1A):c.1015G>A (p.Gly339Ser) rs766790596
NM_000545.6(HNF1A):c.1310-12C>T rs193922579
NM_000545.6(HNF1A):c.1323G>A (p.Thr441=) rs138996307
NM_000545.6(HNF1A):c.1375C>T (p.Leu459=) rs2259820
NM_000545.6(HNF1A):c.1424C>T (p.Pro475Leu) rs193922580
NM_000545.6(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196
NM_000545.6(HNF1A):c.1501+7G>A rs2464195
NM_000545.6(HNF1A):c.1502-14T>C rs765596650
NM_000545.6(HNF1A):c.1522G>A (p.Glu508Lys) rs483353044
NM_000545.6(HNF1A):c.1545G>A (p.Thr515=) rs55834942
NM_000545.6(HNF1A):c.1722C>A (p.Gly574=) rs141304623
NM_000545.6(HNF1A):c.1A>G (p.Met1Val) rs193922592
NM_000545.6(HNF1A):c.276C>T (p.Leu92=) rs34056805
NM_000545.6(HNF1A):c.293C>T (p.Ala98Val) rs1800574
NM_000545.6(HNF1A):c.51C>G (p.Leu17=) rs1169289
NM_000545.6(HNF1A):c.599G>A (p.Arg200Gln) rs893256143
NM_000545.6(HNF1A):c.734G>T (p.Gly245Val) rs193922603
NM_000545.6(HNF1A):c.79A>C (p.Ile27Leu) rs1169288
NM_000545.6(HNF1A):c.965A>G (p.Tyr322Cys) rs140491072
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725
NM_000548.5(TSC2):c.1110G>A (p.Gln370=) rs1800742
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg) rs137854298
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892
NM_000548.5(TSC2):c.1292C>T (p.Ala431Val) rs202187148
NM_000548.5(TSC2):c.1377C>T (p.Gly459=) rs45517170
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val) rs45517171
NM_000548.5(TSC2):c.1543C>T (p.Leu515=) rs35896166
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val) rs371074761
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208
NM_000548.5(TSC2):c.228C>T (p.His76=) rs45517097
NM_000548.5(TSC2):c.2348C>G (p.Thr783Ser) rs562945619
NM_000548.5(TSC2):c.2410T>C (p.Cys804Arg) rs137853995
NM_000548.5(TSC2):c.2451C>T (p.Asp817=) rs201442542
NM_000548.5(TSC2):c.255C>T (p.Val85=) rs45517098
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626
NM_000548.5(TSC2):c.2639+10C>T rs137854378
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val) rs137854155
NM_000548.5(TSC2):c.2743-9C>T rs397515319
NM_000548.5(TSC2):c.2784C>T (p.Pro928=) rs45517267
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro) rs45491698
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3489C>T (p.Ala1163=) rs200346578
NM_000548.5(TSC2):c.3567G>A (p.Leu1189=) rs146734084
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=) rs45486193
NM_000548.5(TSC2):c.3747_3748del (p.Tyr1250fs) rs1555512486
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000548.5(TSC2):c.3883+8C>G rs45517316
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373
NM_000548.5(TSC2):c.3969G>A (p.Ala1323=) rs749057825
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903
NM_000548.5(TSC2):c.4030G>A (p.Glu1344Lys) rs397515035
NM_000548.5(TSC2):c.4087G>A (p.Val1363Ile) rs751203255
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399
NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val) rs202068995
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=) rs45487992
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923
NM_000548.5(TSC2):c.4349C>G (p.Pro1450Arg) rs45517338
NM_000548.5(TSC2):c.4418A>G (p.Lys1473Arg) rs1219556604
NM_000548.5(TSC2):c.4457C>T (p.Ala1486Val) rs773527337
NM_000548.5(TSC2):c.4493+7C>A rs199943270
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=) rs45517354
NM_000548.5(TSC2):c.4680C>T (p.Ala1560=) rs139507276
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro) rs45517362
NM_000548.5(TSC2):c.4738C>T (p.Arg1580Trp) rs777592623
NM_000548.5(TSC2):c.482-3C>T rs1800720
NM_000548.5(TSC2):c.4908C>T (p.Asp1636=) rs115200071
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=) rs35282988
NM_000548.5(TSC2):c.4959C>T (p.Ser1653=) rs45517384
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817
NM_000548.5(TSC2):c.4990-7C>T rs45457095
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met) rs139779505
NM_000548.5(TSC2):c.5161-10A>C rs1800718
NM_000548.5(TSC2):c.5259+1del rs137854317
NM_000548.5(TSC2):c.5266G>A (p.Glu1756Lys) rs375075952
NM_000548.5(TSC2):c.5291G>A (p.Ser1764Asn) rs138831802
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.5(TSC2):c.5397G>A (p.Ser1799=) rs1051771
NM_000548.5(TSC2):c.848+7G>A rs45442896
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748
NM_000548.5(TSC2):c.948G>A (p.Pro316=) rs45517141
NM_000548.5(TSC2):c.975+7C>T rs372463702
NM_000551.3(VHL):c.340+5G>C rs61758376
NM_000601.6(HGF):c.333A>G (p.Glu111=) rs5745635
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125
NM_000702.4(ATP1A2):c.129G>A (p.Lys43=) rs61734527
NM_000702.4(ATP1A2):c.1652-7C>A rs200102433
NM_000702.4(ATP1A2):c.1980C>T (p.Cys660=) rs61734529
NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=) rs374749325
NM_000702.4(ATP1A2):c.2143G>A (p.Gly715Arg) rs1553245771
NM_000702.4(ATP1A2):c.2273G>C (p.Gly758Ala) rs147183887
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) rs146839867
NM_000702.4(ATP1A2):c.2961C>T (p.Cys987=) rs74123254
NM_000702.4(ATP1A2):c.2967C>T (p.Phe989=) rs138826759
NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=) rs148929192
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766
NM_000722.4(CACNA2D1):c.1735-8del
NM_000722.4(CACNA2D1):c.1956-4del rs3083235
NM_000722.4(CACNA2D1):c.1983G>A (p.Ser661=) rs75158917
NM_000722.4(CACNA2D1):c.2837-7A>G rs112176710
NM_000726.4(CACNB4):c.*4T>C rs556761275
NM_000726.4(CACNB4):c.1191G>A (p.Ala397=) rs369276166
NM_000726.4(CACNB4):c.1355G>A (p.Arg452Lys) rs762394421
NM_000726.4(CACNB4):c.1437G>A (p.Gln479=) rs794727118
NM_000726.4(CACNB4):c.288C>T (p.Ala96=) rs558998873
NM_000726.4(CACNB4):c.54C>A (p.Pro18=) rs373222155
NM_000726.4(CACNB4):c.8C>T (p.Ser3Phe) rs542973906
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740
NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=) rs149142237
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp) rs138682847
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr) rs77710085
NM_000744.6(CHRNA4):c.1203G>C (p.Leu401=) rs56142348
NM_000744.6(CHRNA4):c.1209G>T (p.Pro403=) rs2229959
NM_000744.6(CHRNA4):c.1227T>C (p.Cys409=) rs2229960
NM_000744.6(CHRNA4):c.1316A>C (p.Lys439Thr) rs796052318
NM_000744.6(CHRNA4):c.1629C>T (p.Ser543=) rs1044396
NM_000744.6(CHRNA4):c.1637T>G (p.Val546Gly) rs764888239
NM_000744.6(CHRNA4):c.1659G>A (p.Ala553=) rs1044397
NM_000744.6(CHRNA4):c.189C>T (p.Leu63=) rs2273506
NM_000744.6(CHRNA4):c.225C>T (p.Asp75=) rs113080067
NM_000744.6(CHRNA4):c.402G>A (p.Ala134=) rs201488442
NM_000744.6(CHRNA4):c.51G>A (p.Leu17=) rs79739740
NM_000744.6(CHRNA4):c.639T>C (p.Asp213=) rs1044393
NM_000744.6(CHRNA4):c.678T>C (p.Cys226=) rs1044394
NM_000744.6(CHRNA4):c.681C>A (p.Ala227=) rs45588436
NM_000744.6(CHRNA4):c.858C>T (p.Thr286=) rs121912257
NM_000744.6(CHRNA4):c.876C>T (p.Ile292=) rs139694653
NM_000744.6(CHRNA4):c.978C>T (p.Phe326=) rs76270730
NM_000748.3(CHRNB2):c.109C>T (p.Leu37=) rs71651693
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) rs55857552
NM_000748.3(CHRNB2):c.1235G>A (p.Gly412Asp) rs112585933
NM_000748.3(CHRNB2):c.360_362CAA[1] (p.Asn122del) rs796052329
NM_000748.3(CHRNB2):c.78G>A (p.Thr26=) rs143402032
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127
NM_000756.4(CRH):c.456G>A (p.Arg152=) rs144205489
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) rs147975335
NM_000814.6(GABRB3):c.1265C>T (p.Pro422Leu) rs369631109
NM_000814.6(GABRB3):c.1293G>A (p.Arg431=) rs75914945
NM_000815.5(GABRD):c.1060-7C>T rs368961588
NM_000815.5(GABRD):c.470+6C>T rs202225187
NM_000815.5(GABRD):c.659G>A (p.Arg220His) rs41307846
NM_000834.4(GRIN2B):c.15G>A (p.Ala5=) rs34315573
NM_000834.4(GRIN2B):c.1665C>T (p.Ser555=) rs1805482
NM_000834.4(GRIN2B):c.228C>T (p.Thr76=) rs77299791
NM_000834.4(GRIN2B):c.2514C>T (p.Cys838=) rs3026160
NM_000834.4(GRIN2B):c.2664C>T (p.Thr888=) rs1806201
NM_000834.4(GRIN2B):c.2691C>T (p.Asn897=) rs35125534
NM_000834.4(GRIN2B):c.3498C>T (p.Ser1166=) rs45600931
NM_000834.4(GRIN2B):c.3534C>T (p.His1178=) rs1806191
NM_000834.4(GRIN2B):c.3552C>T (p.Gly1184=) rs141886903
NM_000834.4(GRIN2B):c.3837T>G (p.Thr1279=) rs1806200
NM_000834.4(GRIN2B):c.4105G>A (p.Gly1369Ser) rs371190262
NM_000834.4(GRIN2B):c.4113C>T (p.Tyr1371=) rs146792012
NM_000834.4(GRIN2B):c.4197T>C (p.His1399=) rs1805247
NM_000834.4(GRIN2B):c.4218C>T (p.Phe1406=) rs1805246
NM_000834.4(GRIN2B):c.504C>A (p.Ile168=) rs36031537
NM_000891.2(KCNJ2):c.1200G>A (p.Thr400=) rs201253055
NM_001002295.2(GATA3):c.573C>T (p.Pro191=) rs35508267
NM_001003679.3(LEPR):c.1029T>C (p.Ser343=) rs1805134
NM_001003679.3(LEPR):c.1968G>C (p.Lys656Asn) rs1805094
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg) rs61754130
NM_001005336.3(DNM1):c.1782-9A>G rs201739236
NM_001005360.2(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_001005360.2(DNM2):c.1077C>T (p.Gly359=) rs112238216
NM_001005360.2(DNM2):c.1377C>T (p.Ile459=) rs369345296
NM_001005360.2(DNM2):c.1384A>G (p.Thr462Ala) rs201575500
NM_001005360.2(DNM2):c.1836C>T (p.Asp612=) rs767061986
NM_001005360.2(DNM2):c.1837G>A (p.Val613Met) rs748286191
NM_001005360.2(DNM2):c.2139T>C (p.Ala713=) rs2229920
NM_001005360.2(DNM2):c.2201A>G (p.Asn734Ser) rs577767034
NM_001005360.2(DNM2):c.236-8C>G rs143084059
NM_001005360.2(DNM2):c.2543+7C>G rs201979143
NM_001005360.2(DNM2):c.2592C>T (p.Ala864=) rs373161548
NM_001005360.2(DNM2):c.386-6T>A rs114623441
NM_001005360.2(DNM2):c.519T>C (p.Ala173=) rs77702567
NM_001005360.2(DNM2):c.528C>T (p.Pro176=) rs147579870
NM_001005360.2(DNM2):c.633C>T (p.Asp211=) rs200191870
NM_001005360.2(DNM2):c.876G>A (p.Ser292=) rs749140605
NM_001007792.1(NTRK1):c.1698-4del rs1799770
NM_001008212.2(OPTN):c.123G>A (p.Leu41=) rs11591687
NM_001008212.2(OPTN):c.402C>A (p.Ala134=) rs113955718
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) rs113811959
NM_001008537.3(NEXMIF):c.151C>A (p.Pro51Thr) rs145018752
NM_001008537.3(NEXMIF):c.2373A>C (p.Thr791=) rs61742545
NM_001008537.3(NEXMIF):c.2598C>A (p.Ser866=) rs41298498
NM_001008537.3(NEXMIF):c.3555G>T (p.Gly1185=) rs142714242
NM_001008537.3(NEXMIF):c.3709A>T (p.Met1237Leu) rs61731613
NM_001008537.3(NEXMIF):c.4246C>T (p.Pro1416Ser) rs143577015
NM_001009944.3(PKD1):c.10397C>T (p.Ser3466Leu)
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala) rs201409107
NM_001009944.3(PKD1):c.11015G>A (p.Arg3672Gln) rs201220835
NM_001009944.3(PKD1):c.11537+3_11537+5dup rs201204878
NM_001009944.3(PKD1):c.11717G>T (p.Cys3906Phe) rs369291413
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=) rs112387277
NM_001009944.3(PKD1):c.12003+14_12003+33del rs1567148835
NM_001009944.3(PKD1):c.12139-5C>T rs146430229
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del) rs1555444468
NM_001009944.3(PKD1):c.12436G>A (p.Val4146Ile) rs148478410
NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg) rs369397443
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387
NM_001009944.3(PKD1):c.1714C>T (p.Pro572Ser) rs149022148
NM_001009944.3(PKD1):c.182C>T (p.Pro61Leu) rs886038369
NM_001009944.3(PKD1):c.214C>T (p.Leu72=) rs972113626
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009944.3(PKD1):c.288-11G>C rs750270591
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=) rs148727945
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val) rs141625744
NM_001009944.3(PKD1):c.3502C>T (p.Pro1168Ser) rs146887330
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg) rs1057518976
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp) rs143690392
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn) rs141274774
NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=) rs148852027
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200
NM_001009944.3(PKD1):c.5648C>T (p.Ala1883Val) rs779745348
NM_001009944.3(PKD1):c.5847C>T (p.Ser1949=) rs80111665
NM_001009944.3(PKD1):c.588C>T (p.Ser196=) rs776302294
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln) rs145217118
NM_001009944.3(PKD1):c.6545A>G (p.Gln2182Arg) rs147685291
NM_001009944.3(PKD1):c.6621C>G (p.Pro2207=) rs575553075
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481
NM_001009944.3(PKD1):c.7275C>T (p.Gly2425=) rs115772084
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.7642G>C (p.Glu2548Gln) rs28369051
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387
NM_001009944.3(PKD1):c.8218G>T (p.Gly2740Ter) rs1555451368
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397
NM_001009944.3(PKD1):c.8305C>T (p.Leu2769Phe) rs771382752
NM_001009944.3(PKD1):c.8364G>A (p.Ser2788=) rs145176597
NM_001009944.3(PKD1):c.837G>A (p.Gly279=) rs372124319
NM_001009944.3(PKD1):c.8545del (p.Ala2849fs) rs1555451093
NM_001009944.3(PKD1):c.8713G>A (p.Val2905Ile) rs147788838
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys)
NM_001029835.2(CCM2):c.1311_1312AG[1] (p.Glu438fs) rs1562921605
NM_001029835.2(CCM2):c.867-5C>T rs145003686
NM_001029896.2(WDR45):c.351C>T (p.Ile117=) rs140596058
NM_001031737.3(CCDC78):c.1234G>A (p.Gly412Arg) rs148276717
NM_001031737.3(CCDC78):c.384G>T (p.Glu128Asp) rs145274257
NM_001031737.3(CCDC78):c.492+1G>A rs138669350
NM_001031737.3(CCDC78):c.953+10G>A rs79863898
NM_001037.5(SCN1B):c.267C>T (p.Arg89=) rs140949982
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) rs72552027
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile) rs72558029
NM_001037.5(SCN1B):c.448+8G>C rs200222933
NM_001037.5(SCN1B):c.588T>C (p.Asn196=) rs77244433
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met) rs72773422
NM_001039.4(SCNN1G):c.1570-9G>A
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=) rs62639702
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) rs5736
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738
NM_001039.4(SCNN1G):c.636C>T (p.Ser212=) rs5739
NM_001039141.3(TRIOBP):c.391G>A (p.Gly131Ser) rs144634857
NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val) rs140528529
NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys) rs138139146
NM_001039523.3(CHRNA1):c.1308G>T (p.Glu436Asp) rs61737716
NM_001039523.3(CHRNA1):c.615+4G>C rs112674580
NM_001039523.3(CHRNA1):c.718G>A (p.Asp240Asn) rs148304857
NM_001039523.3(CHRNA1):c.730C>T (p.Leu244=) rs150638770
NM_001039876.3(SYNE4):c.972+5G>A rs369269989
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658
NM_001040142.2(SCN2A):c.1571G>A (p.Arg524Gln) rs186154973
NM_001040142.2(SCN2A):c.1959G>A (p.Val653=) rs200546427
NM_001040142.2(SCN2A):c.1976G>A (p.Gly659Asp) rs368887417
NM_001040142.2(SCN2A):c.2083T>C (p.Leu695=) rs368043574
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.3372C>T (p.Ser1124=) rs571408286
NM_001040142.2(SCN2A):c.387-10G>A rs2304015
NM_001040142.2(SCN2A):c.4287T>C (p.Tyr1429=) rs150209984
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=) rs200603552
NM_001040142.2(SCN2A):c.5446G>T (p.Ala1816Ser) rs147084515
NM_001040142.2(SCN2A):c.70G>A (p.Ala24Thr) rs527452801
NM_001040142.2(SCN2A):c.897A>G (p.Ser299=) rs143765389
NM_001040142.2(SCN2A):c.952G>A (p.Glu318Lys) rs149987700
NM_001042472.3(ABHD12):c.1041C>T (p.Ile347=) rs188888939
NM_001042472.3(ABHD12):c.1045G>A (p.Ala349Thr) rs746748
NM_001042472.3(ABHD12):c.1113G>A (p.Arg371=) rs146028040
NM_001042472.3(ABHD12):c.788-10_788-7del rs565270893
NM_001042492.2(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032
NM_001042517.2(DIAPH3):c.2317T>C (p.Phe773Leu) rs35579086
NM_001042537.1(SLC9A6):c.*5_*8delinsTT rs797044655
NM_001042537.1(SLC9A6):c.25G>T (p.Ala9Ser) rs201523857
NM_001042702.4(PJVK):c.874G>A (p.Gly292Arg) rs79399438
NM_001048166.1(STIL):c.1452C>G (p.Ser484=) rs10789505
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214
NM_001048166.1(STIL):c.257C>T (p.Ala86Val) rs3125630
NM_001048166.1(STIL):c.2954A>G (p.His985Arg) rs13376679
NM_001048166.1(STIL):c.3378A>G (p.Arg1126=) rs142315727
NM_001048166.1(STIL):c.3430G>A (p.Asp1144Asn) rs112563569
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) rs147143094
NM_001077365.2(POMT1):c.699+52C>T rs3887873
NM_001077691.2(ALG9):c.1025C>T (p.Pro342Leu) rs185149177
NM_001077691.2(ALG9):c.251C>T (p.Ser84Leu) rs17113312
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn) rs58447305
NM_001079866.2(BCS1L):c.996C>T (p.Asn332=) rs33946522
NM_001080116.1(LDB3):c.494C>T (p.Ala165Val) rs121908334
NM_001080116.1(LDB3):c.504T>C (p.Asp168=) rs76615432
NM_001080414.4(CCDC88C):c.1878G>C (p.Lys626Asn) rs78468999
NM_001080414.4(CCDC88C):c.3202G>T (p.Ala1068Ser) rs201044013
NM_001080414.4(CCDC88C):c.3900C>T (p.Phe1300=) rs199536020
NM_001080414.4(CCDC88C):c.4265C>T (p.Ser1422Leu) rs202217944
NM_001080414.4(CCDC88C):c.4433T>C (p.Val1478Ala) rs201222692
NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=) rs139544500
NM_001080414.4(CCDC88C):c.4707G>A (p.Arg1569=) rs145210051
NM_001080414.4(CCDC88C):c.4889G>A (p.Arg1630His) rs115510695
NM_001080414.4(CCDC88C):c.5087T>C (p.Leu1696Pro) rs77154172
NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln) rs61745465
NM_001080414.4(CCDC88C):c.766C>T (p.Leu256=) rs183742506
NM_001080476.2(GRXCR1):c.272G>T (p.Gly91Val) rs113203706
NM_001080522.2(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782
NM_001080522.2(CC2D2A):c.3183-8T>C rs13121363
NM_001083111.2(GNRH1):c.47G>C (p.Trp16Ser) rs6185
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744
NM_001083961.2(WDR62):c.1470C>T (p.Asp490=) rs45567532
NM_001083961.2(WDR62):c.1641G>A (p.Thr547=) rs2301734
NM_001083961.2(WDR62):c.1642+8C>T rs143309981
NM_001083961.2(WDR62):c.1643-10C>T rs4806263
NM_001083961.2(WDR62):c.180G>A (p.Val60=) rs61742664
NM_001083961.2(WDR62):c.186C>T (p.Leu62=) rs11538454
NM_001083961.2(WDR62):c.2271G>A (p.Leu757=) rs61494900
NM_001083961.2(WDR62):c.2281C>T (p.His761Tyr) rs61744321
NM_001083961.2(WDR62):c.2334-6C>A rs138928852
NM_001083961.2(WDR62):c.2549T>C (p.Leu850Ser) rs2285745
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu) rs74518295
NM_001083961.2(WDR62):c.2991C>T (p.Ala997=) rs77898819
NM_001083961.2(WDR62):c.3033G>A (p.Pro1011=) rs118175551
NM_001083961.2(WDR62):c.3087C>T (p.Cys1029=) rs141344823
NM_001083961.2(WDR62):c.3401T>G (p.Met1134Arg) rs61741470
NM_001083961.2(WDR62):c.3468C>T (p.Leu1156=) rs17851502
NM_001083961.2(WDR62):c.3639C>T (p.Ser1213=) rs45470992
NM_001083961.2(WDR62):c.3674G>A (p.Arg1225His) rs61743589
NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val) rs111294536
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023
NM_001083961.2(WDR62):c.4123G>A (p.Gly1375Ser) rs17851503
NM_001083961.2(WDR62):c.866A>G (p.Lys289Arg) rs12327568
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=) rs143944746
NM_001083962.2(TCF4):c.1905G>A (p.Ala635=) rs151150677
NM_001083962.2(TCF4):c.1923G>A (p.Glu641=) rs76956936
NM_001083962.2(TCF4):c.790-9T>C rs373434281
NM_001083962.2(TCF4):c.966T>C (p.Asp322=) rs142998298
NM_001099404.1(SCN5A):c.87A>G (p.Ala29=) rs6599230
NM_001099922.3(ALG13):c.2013G>A (p.Pro671=) rs775697727
NM_001099922.3(ALG13):c.2380_2382GAA[1] (p.Glu795del) rs772766102
NM_001099922.3(ALG13):c.2606C>T (p.Ala869Val) rs138712375
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) rs142841538
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly) rs773401427
NM_001100.3(ACTA1):c.453C>A (p.Thr151=) rs76030344
NM_001101.5(ACTB):c.1044G>A (p.Ser348=) rs13447409
NM_001101362.2(KBTBD13):c.1077A>G (p.Gly359=) rs199526404
NM_001101362.2(KBTBD13):c.1197C>T (p.Arg399=) rs150830358
NM_001101362.2(KBTBD13):c.794G>A (p.Gly265Asp) rs146917406
NM_001101362.2(KBTBD13):c.954C>G (p.Thr318=) rs368781046
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val) rs61734789
NM_001101426.4(CRPPA):c.685-25GTT[6] rs142647500
NM_001101426.4(CRPPA):c.836-9del rs3839757
NM_001101426.4(CRPPA):c.933+3A>G rs377582530
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=) rs200278701
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788
NM_001110556.2(FLNA):c.2613C>T (p.Asp871=) rs188212919
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) rs398123617
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110556.2(FLNA):c.4475-4C>T rs199652065
NM_001110556.2(FLNA):c.4599-1G>A rs1057518223
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895
NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys) rs782557713
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) rs3027927
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517
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.789C>T (p.Pro263=) rs63582063
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) rs61751445
NM_001111125.3(IQSEC2):c.1641G>A (p.Ala547=) rs61745228
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=) rs184087864
NM_001112741.1(KCNC1):c.1236C>T (p.Ser412=) rs73424033
NM_001112741.1(KCNC1):c.933C>T (p.Arg311=) rs76882721
NM_001113491.2(SEPTIN9):c.1338G>A (p.Ala446=) rs768871202
NM_001113491.2(SEPTIN9):c.201C>T (p.Gly67=) rs61744333
NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp) rs80338761
NM_001114086.2(CLIC5):c.770C>A (p.Pro257His) rs35822882
NM_001122659.3(EDNRB):c.*1767C>T rs3027092
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352
NM_001122955.3(BSCL2):c.124C>T (p.Arg42Cys) rs201493373
NM_001122955.3(BSCL2):c.133G>A (p.Gly45Ser) rs3763853
NM_001126108.2(SLC12A3):c.1539C>T (p.Tyr513=) rs146805986
NM_001126108.2(SLC12A3):c.1825+5G>A rs368509876
NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met) rs145337602
NM_001126108.2(SLC12A3):c.2083G>A (p.Gly695Arg)
NM_001126108.2(SLC12A3):c.2755C>T (p.Arg919Cys) rs12708965
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) rs34803727
NM_001126108.2(SLC12A3):c.2964G>A (p.Ser988=) rs35082264
NM_001126108.2(SLC12A3):c.774C>T (p.Asn258=) rs111578437
NM_001126121.2(SLC25A19):c.*2T>C rs1809352
NM_001126121.2(SLC25A19):c.339T>C (p.Tyr113=) rs7213318
NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=) rs4789164
NM_001126131.2(POLG):c.126_128GCA[15] (p.Gln52_Gln55dup) rs41550117
NM_001126131.2(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_001126131.2(POLG):c.158_159delinsCT (p.Gln53Pro) rs1064795981
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.2243G>C (p.Trp748Ser) rs113994097
NM_001126131.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001127221.1(CACNA1A):c.1199-9C>T rs529977616
NM_001127221.1(CACNA1A):c.1348+7C>T rs192536793
NM_001127221.1(CACNA1A):c.1360G>A (p.Ala454Thr) rs41276886
NM_001127221.1(CACNA1A):c.1364G>A (p.Arg455Gln) rs561858384
NM_001127221.1(CACNA1A):c.1371C>T (p.Ser457=) rs377458008
NM_001127221.1(CACNA1A):c.1398G>A (p.Ser466=) rs374307014
NM_001127221.1(CACNA1A):c.1503_1524del (p.Leu502fs) rs1555762855
NM_001127221.1(CACNA1A):c.1617C>T (p.Tyr539=) rs182505786
NM_001127221.1(CACNA1A):c.1785-6C>T rs201350764
NM_001127221.1(CACNA1A):c.1908C>T (p.Phe636=) rs115452236
NM_001127221.1(CACNA1A):c.1986T>C (p.Phe662=) rs368033271
NM_001127221.1(CACNA1A):c.2042_2043del (p.Gln681fs) rs1064794262
NM_001127221.1(CACNA1A):c.2094G>A (p.Thr698=) rs16016
NM_001127221.1(CACNA1A):c.2740_2742delinsTCT (p.Pro914Ser) rs886043758
NM_001127221.1(CACNA1A):c.2754G>C (p.Glu918Asp) rs16022
NM_001127221.1(CACNA1A):c.2870G>T (p.Arg957Leu) rs551380805
NM_001127221.1(CACNA1A):c.2958G>C (p.Pro986=) rs749357610
NM_001127221.1(CACNA1A):c.2978A>T (p.Glu993Val) rs16023
NM_001127221.1(CACNA1A):c.3031C>G (p.Pro1011Ala) rs28413664
NM_001127221.1(CACNA1A):c.3043G>A (p.Glu1015Lys) rs16024
NM_001127221.1(CACNA1A):c.3060G>A (p.Arg1020=) rs16025
NM_001127221.1(CACNA1A):c.3230C>T (p.Ala1077Val) rs199512932
NM_001127221.1(CACNA1A):c.3240C>T (p.Ala1080=) rs16026
NM_001127221.1(CACNA1A):c.3312C>T (p.Pro1104=) rs374749004
NM_001127221.1(CACNA1A):c.3313G>A (p.Gly1105Ser) rs16027
NM_001127221.1(CACNA1A):c.3387G>A (p.Pro1129=) rs370541345
NM_001127221.1(CACNA1A):c.3424G>A (p.Glu1142Lys) rs780535727
NM_001127221.1(CACNA1A):c.3534C>A (p.Pro1178=) rs184723350
NM_001127221.1(CACNA1A):c.3534C>G (p.Pro1178=) rs184723350
NM_001127221.1(CACNA1A):c.3547G>A (p.Val1183Ile) rs369742607
NM_001127221.1(CACNA1A):c.3549C>T (p.Val1183=) rs16029
NM_001127221.1(CACNA1A):c.3825C>T (p.Asn1275=) rs201230929
NM_001127221.1(CACNA1A):c.3864T>C (p.Phe1288=) rs16030
NM_001127221.1(CACNA1A):c.4075C>T (p.Arg1359Trp) rs1555745461
NM_001127221.1(CACNA1A):c.4224C>T (p.Asp1408=) rs201200430
NM_001127221.1(CACNA1A):c.4314G>A (p.Lys1438=) rs572036869
NM_001127221.1(CACNA1A):c.4594-9C>G rs16032
NM_001127221.1(CACNA1A):c.462C>T (p.Ala154=) rs1800039
NM_001127221.1(CACNA1A):c.4635C>T (p.Thr1545=) rs150378053
NM_001127221.1(CACNA1A):c.4982G>A (p.Arg1661His) rs121908216
NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) rs121908247
NM_001127221.1(CACNA1A):c.4999C>T (p.Arg1667Trp) rs121908220
NM_001127221.1(CACNA1A):c.5160C>T (p.Asp1720=) rs758409135
NM_001127221.1(CACNA1A):c.5271T>C (p.Ala1757=) rs373678557
NM_001127221.1(CACNA1A):c.5511C>T (p.Ala1837=) rs750338421
NM_001127221.1(CACNA1A):c.5742C>T (p.Ala1914=) rs16044
NM_001127221.1(CACNA1A):c.579G>A (p.Thr193=) rs41276894
NM_001127221.1(CACNA1A):c.5900G>A (p.Arg1967Gln) rs199886234
NM_001127221.1(CACNA1A):c.5991G>A (p.Thr1997=) rs17846933
NM_001127221.1(CACNA1A):c.6070G>A (p.Gly2024Ser) rs574805525
NM_001127221.1(CACNA1A):c.6268C>A (p.Arg2090=) rs200093958
NM_001127221.1(CACNA1A):c.6342+10G>C rs376238265
NM_001127221.1(CACNA1A):c.6345C>G (p.Thr2115=) rs16049
NM_001127221.1(CACNA1A):c.6381C>T (p.Ser2127=) rs16050
NM_001127221.1(CACNA1A):c.6471C>T (p.Arg2157=) rs745336852
NM_001127221.1(CACNA1A):c.6486C>T (p.Arg2162=) rs745609731
NM_001127221.1(CACNA1A):c.6508C>T (p.Arg2170Cys) rs375354077
NM_001127221.1(CACNA1A):c.654G>C (p.Ser218=) rs201991581
NM_001127221.1(CACNA1A):c.699A>G (p.Leu233=) rs749587119
NM_001127221.1(CACNA1A):c.784+10C>T rs781363787
NM_001127221.1(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001127221.1(CACNA1A):c.876A>G (p.Glu292=) rs16006
NM_001127221.1(CACNA1A):c.888C>T (p.Asn296=) rs372812865
NM_001127500.3(MET):c.1124A>G (p.Asn375Ser) rs33917957
NM_001127500.3(MET):c.144G>A (p.Ala48=) rs11762213
NM_001127500.3(MET):c.3029C>T (p.Thr1010Ile) rs56391007
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=) rs138259457
NM_001127644.2(GABRA1):c.156T>C (p.Gly52=) rs1129647
NM_001127644.2(GABRA1):c.96A>G (p.Gln32=) rs76224028
NM_001127713.1(ATL1):c.1173C>T (p.His391=) rs149340140
NM_001127713.1(ATL1):c.351G>A (p.Glu117=) rs1060197
NM_001127713.1(ATL1):c.467C>T (p.Thr156Ile) rs137852657
NM_001127713.1(ATL1):c.669C>T (p.Tyr223=) rs146975855
NM_001127713.1(ATL1):c.693T>C (p.Gly231=) rs139720661
NM_001127713.1(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_001127713.1(ATL1):c.84A>G (p.Pro28=) rs35014209
NM_001128209.2(SGCD):c.696+13_696+15del rs397517924
NM_001128840.3(CACNA1D):c.3279G>A (p.Ala1093=) rs36061665
NM_001128840.3(CACNA1D):c.3892C>T (p.Pro1298Ser) rs72556360
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363
NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=) rs147336902
NM_001130089.1(KARS1):c.1163-7C>T rs16941301
NM_001130089.1(KARS1):c.696A>G (p.Thr232=) rs141539149
NM_001130438.2(SPTAN1):c.3580-5_3580-2delCCTA rs754528571
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077
NM_001130438.3(SPTAN1):c.1737C>T (p.Phe579=) rs143941068
NM_001130438.3(SPTAN1):c.2599G>A (p.Glu867Lys) rs1339046005
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425
NM_001130438.3(SPTAN1):c.3912C>T (p.Pro1304=) rs143844598
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571
NM_001130438.3(SPTAN1):c.4595+4G>T rs185925523
NM_001130438.3(SPTAN1):c.5437C>A (p.Arg1813=) rs3750333
NM_001130438.3(SPTAN1):c.5460G>A (p.Ala1820=) rs140191388
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=) rs139799727
NM_001130438.3(SPTAN1):c.6159C>T (p.His2053=) rs150902677
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=) rs112955915
NM_001130438.3(SPTAN1):c.7419G>A (p.Ser2473=) rs375649697
NM_001130823.3(DNMT1):c.3939C>T (p.Gly1313=) rs142903301
NM_001130987.2(DYSF):c.1033+4A>T rs1397221551
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356
NM_001130987.2(DYSF):c.1145C>T (p.Ala382Val) rs115279465
NM_001130987.2(DYSF):c.1149+1G>A rs398123763
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610
NM_001130987.2(DYSF):c.1276+5G>A rs766433603
NM_001130987.2(DYSF):c.1288G>A (p.Val430Met) rs144202114
NM_001130987.2(DYSF):c.1380+6G>C rs75796187
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=) rs150093305
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288
NM_001130987.2(DYSF):c.1518C>T (p.Ile506=) rs34387018
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp) rs377735262
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596
NM_001130987.2(DYSF):c.1906G>C (p.Gly636Arg) rs201049092
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr) rs141867897
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) rs114986640
NM_001130987.2(DYSF):c.2147C>T (p.Ala716Val) rs145007061
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn) rs202123283
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) rs200957354
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355
NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala) rs35884879
NM_001130987.2(DYSF):c.2817G>A (p.Ser939=) rs148902254
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=) rs373328706
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654
NM_001130987.2(DYSF):c.3086-9C>T rs185350547
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) rs756328339
NM_001130987.2(DYSF):c.3337C>T (p.Arg1113Cys) rs141536854
NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His) rs59915619
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs) rs766341386
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His) rs2303603
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp) rs146970014
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=) rs139983909
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954
NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys) rs116426399
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val) rs145401010
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=) rs145412880
NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala) rs151268930
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg) rs138268837
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp) rs398123787
NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=) rs76576806
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) rs145690047
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) rs147056383
NM_001130987.2(DYSF):c.5058C>A (p.Leu1686=) rs141476432
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln) rs148860301
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp) rs139879284
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) rs786205084
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn) rs115013641
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530
NM_001130987.2(DYSF):c.6100A>C (p.Ser2034Arg) rs201890095
NM_001130987.2(DYSF):c.6174-9C>T rs201070766
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=) rs147263499
NM_001134407.3(GRIN2A):c.1329-8C>T rs7193290
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met) rs145956175
NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=) rs61753382
NM_001134407.3(GRIN2A):c.306C>T (p.Asp102=) rs200850130
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086
NM_001134407.3(GRIN2A):c.3898A>G (p.Arg1300Gly) rs372353067
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555
NM_001135022.2(ELMOD3):c.549C>T (p.Thr183=) rs115378987
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val) rs4280262
NM_001136473.1(LITAF):c.27G>A (p.Ala9=) rs149518815
NM_001136473.1(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001136473.1(LITAF):c.344C>A (p.Thr115Asn) rs104894520
NM_001142279.2(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037
NM_001142279.2(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_001142279.2(RNASEH2B):c.741+4486T>C rs76413207
NM_001142279.2(RNASEH2B):c.741+6889G>T rs144408326
NM_001142301.1(TMEM67):c.1567A>G (p.Ile523Val) rs3134031
NM_001142301.1(TMEM67):c.823-3C>T rs3097427
NM_001142771.2(PCDH15):c.4686G>A (p.Thr1562=) rs148772706
NM_001145026.2(PTPRQ):c.1285C>G (p.Gln429Glu) rs61729287
NM_001145308.4(LRTOMT):c.623G>A (p.Arg208Gln) rs61741195
NM_001145308.4(LRTOMT):c.69G>C (p.Leu23=) rs12272086
NM_001145536.2(C17orf107):c.*1478G>T rs483353045
NM_001145536.2(C17orf107):c.*575_*578del
NM_001145809.2(MYH14):c.1024C>G (p.Pro342Ala) rs34498817
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280
NM_001145809.2(MYH14):c.1890C>T (p.Val630=) rs77895476
NM_001145809.2(MYH14):c.192G>T (p.Gly64=) rs181055215
NM_001145809.2(MYH14):c.1944C>T (p.Asp648=) rs189243324
NM_001145809.2(MYH14):c.2792G>A (p.Arg931His) rs200351672
NM_001145809.2(MYH14):c.2841C>T (p.Arg947=) rs138987081
NM_001145809.2(MYH14):c.33G>C (p.Arg11=) rs8106196
NM_001145809.2(MYH14):c.3468-3C>T rs78192108
NM_001145809.2(MYH14):c.3749C>A (p.Ala1250Glu) rs11669191
NM_001145809.2(MYH14):c.4596C>T (p.Ala1532=) rs35453633
NM_001145809.2(MYH14):c.474T>C (p.Ile158=) rs34796700
NM_001145809.2(MYH14):c.4753-9C>T rs45591233
NM_001145809.2(MYH14):c.483G>A (p.Met161Ile) rs34773557
NM_001145809.2(MYH14):c.5281C>A (p.Arg1761=) rs116035034
NM_001145809.2(MYH14):c.5466G>A (p.Leu1822=) rs10419343
NM_001146079.2(CLDN14):c.11C>T (p.Thr4Met) rs113831133
NM_001146079.2(CLDN14):c.300C>T (p.Ile100=) rs113350364
NM_001146079.2(CLDN14):c.63G>A (p.Thr21=) rs117560775
NM_001146261.2(SYT14):c.1203A>G (p.Glu401=)
NM_001151.4(SLC25A4):c.490A>G (p.Ile164Val) rs143511445
NM_001159699.2(FHL1):c.204+5C>T rs182106777
NM_001160301.1(DPYD):c.451A>G (p.Asn151Asp) rs200562975
NM_001160301.1(DPYD):c.85T>C (p.Cys29Arg) rs1801265
NM_001161352.2(KCNMA1):c.117_119CTC[6] (p.Ser60del) rs572827902
NM_001161352.2(KCNMA1):c.117_119CTC[8] (p.Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) rs45617636
NM_001161352.2(KCNMA1):c.144_146TTC[3] (p.Ser60del) rs751901610
NM_001161352.2(KCNMA1):c.2015+7G>A rs78670694
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr) rs142210216
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=) rs41274568
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=) rs45586138
NM_001161352.2(KCNMA1):c.36_38CGG[8] (p.Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) rs1131824
NM_001161352.2(KCNMA1):c.90C>T (p.His30=) rs75040504
NM_001163213.1(FGFR3):c.1082-546G>A
NM_001163213.1(FGFR3):c.1156T>C (p.Phe386Leu) rs17881656
NM_001163213.1(FGFR3):c.1351C>T (p.Pro451Ser) rs61735104
NM_001163213.1(FGFR3):c.1885G>A (p.Glu629Lys) rs200849753
NM_001163213.1(FGFR3):c.2265C>T (p.Thr755=) rs146662137
NM_001163213.1(FGFR3):c.393G>A (p.Ser131=) rs55662109
NM_001164617.2(GPC3):c.1236-8T>C rs182950534
NM_001164617.2(GPC3):c.1354G>A (p.Val452Met) rs11539789
NM_001164731.2(REEP1):c.*155T>C rs141976852
NM_001164732.2(REEP1):c.182+9253G>A rs2276625
NM_001165928.3(DAG1):c.258G>C (p.Leu86Phe) rs145403829
NM_001165928.3(DAG1):c.259A>G (p.Ile87Val) rs116717961
NM_001165928.3(DAG1):c.331G>A (p.Asp111Asn) rs117209107
NM_001165928.3(DAG1):c.599C>G (p.Thr200Ser) rs41290704
NM_001168272.1(ITPR1):c.1404C>T (p.Phe468=)
NM_001168272.1(ITPR1):c.1452C>T (p.Phe484=) rs778521012
NM_001168272.1(ITPR1):c.1881C>T (p.Asn627=) rs61757106
NM_001168272.1(ITPR1):c.1962-7T>G rs764512335
NM_001168272.1(ITPR1):c.1962G>A (p.Lys654=) rs2306875
NM_001168272.1(ITPR1):c.2235G>T (p.Leu745=) rs375801584
NM_001168272.1(ITPR1):c.255C>T (p.Asp85=) rs367814655
NM_001168272.1(ITPR1):c.2682G>A (p.Lys894=) rs187516662
NM_001168272.1(ITPR1):c.3282+4G>A rs2306878
NM_001168272.1(ITPR1):c.3624G>A (p.Val1208=)
NM_001168272.1(ITPR1):c.3876C>T (p.His1292=) rs61757108
NM_001168272.1(ITPR1):c.3900T>C (p.Asn1300=) rs193212750
NM_001168272.1(ITPR1):c.4243A>G (p.Ile1415Val) rs3749383
NM_001168272.1(ITPR1):c.4428C>T (p.Ile1476=) rs192863290
NM_001168272.1(ITPR1):c.4798-8C>T rs41304179
NM_001168272.1(ITPR1):c.4809C>T (p.Ser1603=) rs373127487
NM_001168272.1(ITPR1):c.5646T>C (p.Asp1882=) rs371661663
NM_001168272.1(ITPR1):c.6102C>T (p.Thr2034=)
NM_001168272.1(ITPR1):c.6303C>T (p.Asn2101=)
NM_001168272.1(ITPR1):c.6402C>T (p.Asn2134=) rs202123078
NM_001168272.1(ITPR1):c.66G>A (p.Ser22=) rs112944532
NM_001168272.1(ITPR1):c.6867G>A (p.Pro2289=) rs200426774
NM_001168272.1(ITPR1):c.7053C>T (p.Gly2351=) rs41290672
NM_001168272.1(ITPR1):c.7054G>A (p.Ala2352Thr) rs201144431
NM_001168272.1(ITPR1):c.7344C>T (p.Phe2448=) rs200487406
NM_001168272.1(ITPR1):c.7461C>T (p.Ser2487=) rs375227391
NM_001168272.1(ITPR1):c.7464T>C (p.Asp2488=) rs79720149
NM_001168272.1(ITPR1):c.7590T>C (p.Thr2530=) rs711631
NM_001168272.1(ITPR1):c.7644G>A (p.Lys2548=) rs901854
NM_001168272.1(ITPR1):c.789C>T (p.Phe263=) rs369681244
NM_001168272.1(ITPR1):c.7914C>T (p.Ile2638=) rs371988852
NM_001168272.1(ITPR1):c.7941C>T (p.Thr2647=) rs368405302
NM_001168272.1(ITPR1):c.952-6C>T rs139421901
NM_001170634.1(FUS):c.666_668CGG[7] (p.Gly230dup) rs72550890
NM_001172435.2(RAB3GAP1):c.1006C>T (p.Arg336Cys) rs150478342
NM_001172435.2(RAB3GAP1):c.1325A>G (p.Tyr442Cys) rs114901298
NM_001172435.2(RAB3GAP1):c.1793A>G (p.Asn598Ser) rs10445686
NM_001172435.2(RAB3GAP1):c.2265T>C (p.Phe755=) rs17261772
NM_001172435.2(RAB3GAP1):c.2676G>T (p.Arg892Ser) rs144455066
NM_001172435.2(RAB3GAP1):c.357A>G (p.Val119=) rs73959261
NM_001172435.2(RAB3GAP1):c.411C>T (p.Asp137=) rs140929274
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265
NM_001174051.3(CACNA2D2):c.1833G>A (p.Lys611=) rs41305892
NM_001174051.3(CACNA2D2):c.3390C>T (p.Leu1130=) rs77176698
NM_001174051.3(CACNA2D2):c.3419C>T (p.Pro1140Leu) rs150832847
NM_001174089.2(SLC4A11):c.1167C>T (p.Ile389=) rs78274653
NM_001174089.2(SLC4A11):c.2193-4G>A rs10048856
NM_001174089.2(SLC4A11):c.2451G>A (p.Thr817=) rs58757394
NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=) rs587780850
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684
NM_001182.5(ALDH7A1):c.373A>G (p.Ile125Val) rs117295656
NM_001182.5(ALDH7A1):c.858G>A (p.Val286=) rs150623275
NM_001184832.2(SLC12A1):c.2198C>T (p.Ala733Val) rs141858745
NM_001184832.2(SLC12A1):c.2630-7G>A rs34063058
NM_001184832.2(SLC12A1):c.2787C>T (p.Ile929=) rs145464740
NM_001184832.2(SLC12A1):c.2873T>C (p.Val958Ala) rs1552311
NM_001184832.2(SLC12A1):c.629-524C>T rs141106709
NM_001184832.2(SLC12A1):c.828G>A (p.Val276=) rs3825960
NM_001184880.2(PCDH19):c.1353G>A (p.Pro451=) rs373795773
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.2(PCDH19):c.697G>T (p.Asp233Tyr) rs1555985482
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027
NM_001191061.2(SLC25A22):c.234C>T (p.Pro78=) rs80335370
NM_001191061.2(SLC25A22):c.448C>G (p.Leu150Val) rs111277421
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=) rs374780430
NM_001191061.2(SLC25A22):c.500G>A (p.Arg167Gln) rs201089795
NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=) rs145322467
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=) rs147840220
NM_001193466.2(KANSL1):c.1652C>T (p.Thr551Ile) rs778178483
NM_001193466.2(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439
NM_001193466.2(KANSL1):c.2109A>G (p.Leu703=) rs34101027
NM_001193466.2(KANSL1):c.3170A>G (p.Gln1057Arg) rs201083879
NM_001193466.2(KANSL1):c.571G>T (p.Gly191Cys) rs149566146
NM_001193466.2(KANSL1):c.607G>C (p.Gly203Arg) rs138175526
NM_001193466.2(KANSL1):c.680G>A (p.Ser227Asn) rs150345690
NM_001193466.2(KANSL1):c.727C>A (p.Gln243Lys) rs142096969
NM_001193466.2(KANSL1):c.773T>C (p.Leu258Ser) rs145714368
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195248.2(APTX):c.484-3_484-2insTTTTTTTTTTTG rs1554664711
NM_001195248.2(APTX):c.513G>A (p.Leu171=) rs140888559
NM_001195248.2(APTX):c.742T>A (p.Leu248Met) rs141195622
NM_001195248.2(APTX):c.762G>A (p.Pro254=) rs571475924
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu) rs141493373
NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu) rs112571971
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu) rs143414291
NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3]) rs397516634
NM_001195263.2(PDZD7):c.572T>A (p.Val191Glu) rs118098246
NM_001195553.2(DCX):c.948A>C (p.Ala316=) rs770799939
NM_001199107.2(TBC1D24):c.-7C>T rs199852092
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met) rs61731477
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met) rs201649140
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=) rs149371169
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu) rs201060500
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728
NM_001199799.2(ILDR1):c.726G>A (p.Ala242=) rs114464909
NM_001234.5(CAV3):c.171G>A (p.Val57=) rs61147808
NM_001234.5(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_001234.5(CAV3):c.276C>T (p.Phe92=) rs72546669
NM_001242897.2(DEPDC5):c.1389C>T (p.Asp463=) rs188147862
NM_001242897.2(DEPDC5):c.161A>C (p.Gln54Pro) rs201312113
NM_001242897.2(DEPDC5):c.2851A>G (p.Thr951Ala) rs537257402
NM_001242897.2(DEPDC5):c.3031-10del rs377356885
NM_001242897.2(DEPDC5):c.3383T>C (p.Ile1128Thr) rs200653339
NM_001243571.2(MTMR2):c.1288G>C (p.Glu430Gln) rs61735578
NM_001243766.1(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869
NM_001256545.2(MEGF10):c.1002C>T (p.His334=) rs142947482
NM_001256545.2(MEGF10):c.174G>A (p.Thr58=) rs12654455
NM_001256545.2(MEGF10):c.3026-8C>T rs185480820
NM_001257988.1(TYMP):c.1412C>T (p.Ser471Leu) rs11479
NM_001257988.1(TYMP):c.831G>A (p.Leu277=) rs8141558
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile) rs55675869
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr) rs201112096
NM_001267550.2(TTN):c.1002C>T (p.Thr334=) rs148094198
NM_001267550.2(TTN):c.10104T>G (p.Val3368=) rs142460433
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met) rs201554140
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val) rs56376197
NM_001267550.2(TTN):c.101890C>A (p.Arg33964Ser) rs779064623
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn) rs144963736
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117
NM_001267550.2(TTN):c.10256G>A (p.Ser3419Asn) rs2291310
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) rs56173891
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met) rs192001910
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys) rs72629785
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala) rs55945684
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747
NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala) rs201735487
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=) rs199714102
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys) rs200378865
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=) rs55938627
NM_001267550.2(TTN):c.105384A>G (p.Ala35128=) rs3813250
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met) rs55865284
NM_001267550.2(TTN):c.105787_105788delinsTT (p.Ala35263Phe) rs794729250
NM_001267550.2(TTN):c.106375-2A>G rs1553482872
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) rs6725673
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=) rs55838839
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279
NM_001267550.2(TTN):c.1068G>A (p.Glu356=) rs144716589
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) rs200497615
NM_001267550.2(TTN):c.107230A>G (p.Ile35744Val) rs142336788
NM_001267550.2(TTN):c.107377+1G>A rs112188483
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=) rs371480338
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793
NM_001267550.2(TTN):c.107688G>A (p.Pro35896=) rs542575761
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=) rs72648918
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys) rs186624523
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser) rs201888760
NM_001267550.2(TTN):c.12195T>C (p.Leu4065=) rs201129413
NM_001267550.2(TTN):c.12733A>C (p.Asn4245His) rs199652066
NM_001267550.2(TTN):c.12986G>A (p.Arg4329Lys) rs199560188
NM_001267550.2(TTN):c.13194A>G (p.Gln4398=) rs375347596
NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln) rs200431386
NM_001267550.2(TTN):c.13287T>C (p.Ala4429=) rs370604524
NM_001267550.2(TTN):c.14049C>T (p.Ser4683=) rs370208081
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=) rs184307461
NM_001267550.2(TTN):c.14610C>T (p.Ser4870=) rs2742348
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn) rs184740744
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.1492G>A (p.Val498Ile) rs72647851
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.15542G>C (p.Gly5181Ala) rs201185434
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro) rs72648930
NM_001267550.2(TTN):c.15584A>G (p.Glu5195Gly) rs72648931
NM_001267550.2(TTN):c.156C>T (p.Pro52=) rs72647842
NM_001267550.2(TTN):c.15906C>T (p.Val5302=) rs375179152
NM_001267550.2(TTN):c.16055-9A>C rs368897883
NM_001267550.2(TTN):c.16056T>C (p.Asp5352=) rs376820575
NM_001267550.2(TTN):c.16422A>G (p.Gln5474=) rs371026448
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys) rs72648939
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940
NM_001267550.2(TTN):c.16621+7A>T rs10200398
NM_001267550.2(TTN):c.16716A>G (p.Pro5572=) rs367821526
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn) rs200692495
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768
NM_001267550.2(TTN):c.1815T>C (p.Thr605=) rs757604614
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly) rs370812788
NM_001267550.2(TTN):c.18531G>C (p.Val6177=) rs370684491
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr) rs188878341
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val) rs72648954
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn) rs11888217
NM_001267550.2(TTN):c.19818A>G (p.Lys6606=) rs397517492
NM_001267550.2(TTN):c.20025C>A (p.Ala6675=) rs373842558
NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr) rs202108224
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala) rs200118743
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) rs72648960
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962
NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg) rs553548392
NM_001267550.2(TTN):c.21276C>T (p.Thr7092=) rs372264428
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr) rs201394117
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108
NM_001267550.2(TTN):c.21642C>T (p.Asn7214=) rs752620885
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His) rs138853909
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585
NM_001267550.2(TTN):c.22080T>C (p.Asp7360=) rs16866473
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His) rs12693166
NM_001267550.2(TTN):c.2244G>A (p.Glu748=) rs6715406
NM_001267550.2(TTN):c.22692A>T (p.Thr7564=) rs187182557
NM_001267550.2(TTN):c.22922C>T (p.Ser7641Leu) rs369508943
NM_001267550.2(TTN):c.23023G>T (p.Asp7675Tyr) rs552951988
NM_001267550.2(TTN):c.23099-3T>C rs2562830
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=) rs72648971
NM_001267550.2(TTN):c.23223G>A (p.Gln7741=) rs2562831
NM_001267550.2(TTN):c.23925C>T (p.Ser7975=) rs374879942
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala) rs16866465
NM_001267550.2(TTN):c.24471C>T (p.Gly8157=) rs113391261
NM_001267550.2(TTN):c.24516C>T (p.Thr8172=) rs72648978
NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys) rs549604128
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=) rs72648983
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) rs2627043
NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser) rs200972189
NM_001267550.2(TTN):c.25209T>C (p.Asp8403=) rs569860898
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile) rs201432372
NM_001267550.2(TTN):c.25274G>A (p.Ser8425Asn) rs13390491
NM_001267550.2(TTN):c.25626G>T (p.Gln8542His) rs2562832
NM_001267550.2(TTN):c.25707T>C (p.Tyr8569=) rs2742329
NM_001267550.2(TTN):c.25758C>T (p.Asp8586=) rs372802604
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys) rs72648987
NM_001267550.2(TTN):c.26091A>T (p.Leu8697=) rs2562836
NM_001267550.2(TTN):c.26289A>G (p.Glu8763=) rs2562838
NM_001267550.2(TTN):c.26329G>A (p.Val8777Ile) rs376823283
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser) rs12693164
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=) rs200088963
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) rs72648990
NM_001267550.2(TTN):c.26655C>T (p.Ser8885=) rs2562839
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575
NM_001267550.2(TTN):c.26694G>T (p.Gly8898=) rs199525540
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=) rs143368674
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile) rs144930507
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile) rs202160275
NM_001267550.2(TTN):c.28662G>A (p.Arg9554=) rs2742332
NM_001267550.2(TTN):c.28829G>A (p.Ser9610Asn) rs371759532
NM_001267550.2(TTN):c.28970C>T (p.Ser9657Leu) rs200049911
NM_001267550.2(TTN):c.289G>A (p.Val97Met) rs185921345
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=) rs372997298
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile) rs72649002
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter) rs746721983
NM_001267550.2(TTN):c.29799G>A (p.Ser9933=) rs2742344
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser) rs72650006
NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys) rs200902055
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met) rs72647868
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val) rs2042995
NM_001267550.2(TTN):c.31762+5_31762+7del rs397517538
NM_001267550.2(TTN):c.31763-1G>A rs202234172
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala) rs200213832
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg) rs2244492
NM_001267550.2(TTN):c.32049A>G (p.Lys10683=) rs375408527
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser) rs201738153
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro) rs72650032
NM_001267550.2(TTN):c.32807-10T>A rs138192315
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His) rs36051007
NM_001267550.2(TTN):c.33501_33503AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.33834G>A (p.Glu11278=) rs35112591
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys) rs376874956
NM_001267550.2(TTN):c.34474C>A (p.Pro11492Thr) rs182428755
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly) rs201167067
NM_001267550.2(TTN):c.34845C>T (p.Pro11615=) rs368781863
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478
NM_001267550.2(TTN):c.3601A>G (p.Lys1201Glu) rs10497520
NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val) rs200840285
NM_001267550.2(TTN):c.3668C>T (p.Ala1223Val) rs78269740
NM_001267550.2(TTN):c.37956G>T (p.Val12652=) rs541757326
NM_001267550.2(TTN):c.38311A>G (p.Lys12771Glu) rs551811137
NM_001267550.2(TTN):c.38336T>C (p.Val12779Ala) rs2099130
NM_001267550.2(TTN):c.38708-4T>C rs200819643
NM_001267550.2(TTN):c.3884C>T (p.Ser1295Leu) rs1552280
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val) rs148140756
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg) rs72650066
NM_001267550.2(TTN):c.40250C>T (p.Pro13417Leu) rs537578226
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077
NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile) rs149059189
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=) rs55847232
NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile) rs375474669
NM_001267550.2(TTN):c.4160T>C (p.Leu1387Pro) rs115303497
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=) rs186699871
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg) rs2288563
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299
NM_001267550.2(TTN):c.42840T>G (p.Asp14280Glu) rs760643071
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) rs142317580
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln) rs373491468
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=) rs16866423
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys) rs12471771
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485
NM_001267550.2(TTN):c.44423A>C (p.Lys14808Thr) rs374419129
NM_001267550.2(TTN):c.44529C>T (p.His14843=) rs55973744
NM_001267550.2(TTN):c.44548+9A>G rs372725070
NM_001267550.2(TTN):c.44784T>C (p.Asp14928=) rs186105748
NM_001267550.2(TTN):c.4480+6C>T rs719201
NM_001267550.2(TTN):c.45053C>T (p.Ala15018Val) rs72677221
NM_001267550.2(TTN):c.45174C>T (p.Gly15058=) rs372609980
NM_001267550.2(TTN):c.45738T>C (p.Ala15246=) rs2303829
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile) rs139192633
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met) rs368057764
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871
NM_001267550.2(TTN):c.47196G>C (p.Val15732=) rs369979598
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) rs76081119
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=) rs114145817
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) rs138576504
NM_001267550.2(TTN):c.47955A>G (p.Pro15985=) rs192953152
NM_001267550.2(TTN):c.48161-4del rs730880371
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) rs200944827
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln) rs367566671
NM_001267550.2(TTN):c.49944G>A (p.Lys16648=) rs190021597
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys) rs148018042
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val) rs750610895
NM_001267550.2(TTN):c.51273G>A (p.Arg17091=) rs532589236
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=) rs372635204
NM_001267550.2(TTN):c.51684G>A (p.Ala17228=) rs2288566
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=) rs139789997
NM_001267550.2(TTN):c.52821T>C (p.Asp17607=) rs2303831
NM_001267550.2(TTN):c.52890C>T (p.Thr17630=) rs374228930
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=) rs73036398
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val) rs886042743
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832
NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln) rs727503603
NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val) rs373815064
NM_001267550.2(TTN):c.5464A>C (p.Met1822Leu) rs201581947
NM_001267550.2(TTN):c.54740T>C (p.Met18247Thr) rs200585270
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991
NM_001267550.2(TTN):c.54812-5A>G rs375343798
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=) rs190830121
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr) rs146608896
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg) rs72646823
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=) rs151335428
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp) rs1001238
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys) rs146496197
NM_001267550.2(TTN):c.56942C>T (p.Ala18981Val) rs397517627
NM_001267550.2(TTN):c.56970T>C (p.Pro18990=) rs372019333
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr) rs200001206
NM_001267550.2(TTN):c.57315T>C (p.His19105=) rs35833641
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His) rs114711705
NM_001267550.2(TTN):c.58191G>A (p.Thr19397=) rs370091658
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569
NM_001267550.2(TTN):c.58612A>G (p.Thr19538Ala) rs200017524
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=) rs2303836
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu) rs72646840
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu) rs16866406
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile) rs369476725
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=) rs72646842
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=) rs767152563
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu) rs72646843
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925
NM_001267550.2(TTN):c.61138C>A (p.Leu20380Met) rs201167216
NM_001267550.2(TTN):c.61245A>G (p.Thr20415=) rs2163009
NM_001267550.2(TTN):c.61825C>T (p.Arg20609Cys) rs786205389
NM_001267550.2(TTN):c.62058T>C (p.Tyr20686=) rs1560221
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=) rs72646848
NM_001267550.2(TTN):c.62511T>C (p.Ser20837=) rs369467841
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=) rs375006117
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr) rs56404770
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855
NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln) rs148684589
NM_001267550.2(TTN):c.63743T>C (p.Leu21248Pro) rs745323281
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=) rs201285872
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=) rs72646857
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996
NM_001267550.2(TTN):c.64720G>A (p.Ala21574Thr) rs578085621
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu) rs13021201
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile) rs56130023
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=) rs200825430
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu) rs397517662
NM_001267550.2(TTN):c.65682A>G (p.Thr21894=) rs4894029
NM_001267550.2(TTN):c.66051G>A (p.Val22017=) rs587780981
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys) rs72646869
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn) rs72646870
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His) rs200971254
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838
NM_001267550.2(TTN):c.67246G>C (p.Ala22416Pro) rs4145333
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876
NM_001267550.2(TTN):c.67635T>C (p.Val22545=) rs2288570
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=) rs11904444
NM_001267550.2(TTN):c.687T>C (p.Phe229=) rs376527094
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val) rs72646881
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln) rs370890454
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) rs72646882
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu) rs372799151
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=) rs369503828
NM_001267550.2(TTN):c.70305G>A (p.Thr23435=) rs397517684
NM_001267550.2(TTN):c.70506G>T (p.Gly23502=) rs181702963
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys) rs145039979
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238
NM_001267550.2(TTN):c.70830C>T (p.Ser23610=) rs12464787
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val) rs72646891
NM_001267550.2(TTN):c.70906C>T (p.Arg23636Cys) rs189208539
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His) rs56071233
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser) rs4894048
NM_001267550.2(TTN):c.71841G>C (p.Lys23947Asn) rs56019808
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile) rs377334665
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly) rs573415766
NM_001267550.2(TTN):c.74597_74599CAA[1] (p.Thr24867del) rs543318580
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu) rs72646899
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His) rs201512527
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027
NM_001267550.2(TTN):c.7545C>T (p.Tyr2515=) rs2291306
NM_001267550.2(TTN):c.75682C>T (p.Pro25228Ser) rs377226540
NM_001267550.2(TTN):c.75762G>T (p.Val25254=) rs374003257
NM_001267550.2(TTN):c.76019T>A (p.Val25340Asp) rs200287703
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=) rs140350441
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val) rs201095164
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) rs369707906
NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn) rs143186270
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=) rs375398118
NM_001267550.2(TTN):c.77205G>A (p.Val25735=)