ClinVar Miner

Variants from Baylor Genetics with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Baylor Genetics: Collection method of the submission from Baylor Genetics:
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
1014 583 132 691 79 56 312 1009

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
Baylor Genetics pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response protective risk factor other
pathogenic 114 462 125 15 14 2 1 25 5 15 10
likely pathogenic 138 0 97 8 4 0 1 3 1 0 2
uncertain significance 59 38 0 18 16 0 0 0 0 1 0
likely benign 1 0 1 1 4 0 0 0 0 0 0
benign 0 1 53 88 17 0 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 217
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
Counsyl 0 397 0 272 1 0 67 339
Invitae 0 643 0 69 20 0 73 161
GeneDx 0 536 0 77 19 0 52 147
GeneReviews 0 109 114 9 0 0 11 133
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 426 0 47 16 3 53 118
OMIM 0 455 0 47 3 26 39 114
Illumina Clinical Services Laboratory,Illumina 0 144 0 66 6 0 32 102
Ambry Genetics 0 246 0 56 6 0 22 84
Integrated Genetics/Laboratory Corporation of America 0 446 0 58 3 0 18 78
CeGaT Praxis fuer Humangenetik Tuebingen 0 9 0 28 2 0 18 48
Genetic Services Laboratory, University of Chicago 0 96 0 26 10 0 8 44
Mendelics 0 133 0 22 4 0 18 43
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 265 0 25 2 0 15 42
Fulgent Genetics,Fulgent Genetics 0 227 0 37 0 0 3 40
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 178 0 15 4 0 16 35
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 59 0 25 1 0 8 34
Color 0 121 0 27 2 0 3 32
PharmGKB 0 0 0 0 0 26 0 26
Breast Cancer Information Core (BIC) (BRCA2) 0 38 0 0 26 0 0 26
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 4 17 1 4 0 2 24
Quest Diagnostics Nichols Institute San Juan Capistrano 0 120 0 17 0 0 7 24
PreventionGenetics,PreventionGenetics 0 82 0 15 4 0 0 19
Breast Cancer Information Core (BIC) (BRCA1) 0 35 0 1 18 0 1 19
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 79 0 8 3 0 8 19
Athena Diagnostics Inc 0 50 0 8 6 0 4 17
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 36 0 9 1 0 7 17
Database of Curated Mutations (DoCM) 0 1 0 17 0 0 0 17
True Health Diagnostics 0 11 0 17 0 0 0 17
NIHR Bioresource Rare Diseases, University of Cambridge 0 12 0 12 0 0 4 15
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 123 0 14 0 0 0 14
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 4 0 14 0 0 0 14
Department of Pathology and Laboratory Medicine,Sinai Health System 0 78 0 14 0 0 0 14
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 24 0 7 1 0 5 13
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 4 0 9 0 0 4 13
CFTR-France 0 101 0 12 0 0 1 13
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 26 0 10 0 1 1 12
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 72 0 11 0 0 1 12
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 20 0 10 0 0 1 11
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 16 0 8 0 0 2 10
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 26 0 7 2 0 0 9
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 1 0 8 0 0 1 9
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 7 0 5 0 0 5 9
SIB Swiss Institute of Bioinformatics 0 8 0 5 0 0 4 9
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 56 0 8 0 0 0 8
CFTR2 0 114 0 8 0 0 0 8
Institute of Human Genetics,Klinikum rechts der Isar 0 38 0 6 0 0 2 8
UCLA Clinical Genomics Center, UCLA 0 6 0 6 0 0 2 8
Blueprint Genetics 0 30 0 4 0 0 3 7
Pathway Genomics 0 13 0 7 0 0 0 7
CSER _CC_NCGL, University of Washington 0 8 0 4 1 0 1 6
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 28 0 5 0 0 1 6
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 10 0 1 0 0 5 6
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 7 0 0 5 0 0 5
Yale Center for Mendelian Genomics,Yale University 0 0 0 5 0 0 0 5
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 9 0 2 0 0 3 5
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 23 0 2 0 0 2 4
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 18 0 2 0 0 2 4
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 4 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 7 0 3 0 0 1 4
Vantari Genetics 0 7 0 3 1 0 0 4
Undiagnosed Diseases Network,NIH 0 11 0 3 0 0 2 4
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 1 0 0 4 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 8 0 3 0 0 1 4
Gharavi Laboratory,Columbia University 0 9 0 1 0 0 3 4
Johns Hopkins Genomics,Johns Hopkins University 0 16 0 4 0 0 0 4
Clinical Biochemistry Laboratory,Health Services Laboratory 0 4 0 2 0 0 1 3
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 15 0 1 1 0 1 3
Center for Medical Genetics Ghent,University of Ghent 0 3 0 1 1 0 1 3
Division of Human Genetics,Children's Hospital of Philadelphia 0 30 0 3 0 0 0 3
University of Washington Center for Mendelian Genomics,University of Washington 0 4 0 2 0 0 1 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 33 0 3 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 2 0 0 1 3
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 2 0 1 3
Neurogenetics Laboratory - MEYER,AOU Meyer 0 1 0 1 0 0 2 3
Research and Development, ARUP Laboratories 0 23 0 3 0 0 0 3
Medgenome Labs Pvt Ltd 0 0 0 2 0 0 1 3
Inherited Neuropathy Consortium 0 1 0 0 0 0 3 3
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 9 0 3 0 0 0 3
ClinGen PAH Variant Curation Expert Panel 0 13 0 3 0 0 0 3
University of Washington Department of Laboratory Medicine, University of Washington 0 6 0 3 0 0 0 3
Reproductive Health Research and Development,BGI Genomics 0 14 0 2 0 0 1 3
Baylor Genetics 2579 25 0 1 0 0 1 2
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 5 0 1 0 0 1 2
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 16 0 2 0 0 0 2
Michigan Medical Genetics Laboratories,University of Michigan 0 74 0 1 1 0 0 2
Sharing Clinical Reports Project (SCRP) 0 82 0 2 0 0 0 2
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 1 0 0 1 2
Academic Department of Medical Genetics, University of Cambridge 0 1 0 2 0 0 1 2
PXE International 0 1 0 1 0 0 1 2
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 3 0 0 0 0 2 2
CHU Sainte-Justine Research Center,University of Montreal 0 2 0 1 0 0 1 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 9 0 2 0 0 0 2
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 4 0 0 0 0 2 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 1 0 0 1 2
Department of Medical Genetics,University Hospital of North Norway 0 0 0 2 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 1 0 0 2 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 2 0 0 0 2
Sharon lab,Hadassah-Hebrew University Medical Center 0 7 0 2 0 0 0 2
Schule lab,Hertie Institute for Clinical Brain Research 0 0 0 1 0 0 1 2
SingHealth Duke-NUS Institute of Precision Medicine 0 6 0 2 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 0 11 0 2 0 0 0 2
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 3 0 2 0 0 0 2
Raymond Lab,University of Cambridge 0 0 0 2 0 0 0 2
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center 0 1 0 0 0 2 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 0 3 0 2 0 0 0 2
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 12 0 2 0 0 1 2
Natera Inc 0 19 0 1 0 0 1 2
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 1 0 1 0 0 1 2
Center for Human Genetics, Inc 0 9 0 0 1 0 0 1
Collagen Diagnostic Laboratory,University of Washington 0 0 0 1 0 0 0 1
Claritas Genomics 0 2 0 1 0 0 0 1
Elsea Laboratory,Baylor College of Medicine 0 0 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 1 0 1 0 0 0 1
Genetics - Viapath,Viapath, Guy's Hospital 0 0 0 1 0 0 0 1
Bristol Genetics Laboratory - North Bristol NHS Trust,Southmead Hospital - Pathology Sciences 0 0 0 1 0 0 0 1
MyeliNeuroGene Lab,McGill University Health Center Research Institute 0 1 0 0 0 0 1 1
Columbia University Laboratory of Personalized Genomic Medicine,Columbia University Medical Center 0 0 0 1 0 0 0 1
Endocrinology Clinic, Seth G.S. Medical College 0 0 0 1 0 0 0 1
Eye Genetics Research Group,Children's Medical Research Institute 0 0 0 0 0 0 1 1
RettBASE 0 2 0 0 0 0 1 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 0 1
Wellcome Centre for Mitochondrial Research,Newcastle University 0 4 0 0 0 0 1 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 0 0 1 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 1 1 0 0 0 0 1
ISCA site 1 0 0 0 0 0 0 1 1
Department of Medical Genetics,Oslo University Hospital 0 18 0 1 0 0 0 1
Shaikh Laboratory, University of Colorado 0 0 0 1 0 0 0 1
University of British Columbia 0 0 0 1 0 0 0 1
Department of Molecular Endocrinology,National Research Institute for Child Health and Development 0 0 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 0 0 0 1 0 0 0 1
Institute of Pediatric Research,Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 0 0 0 1 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 1 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 1 0 0 0 1
Department of Genetics, Reproduction and Fetal Medicine.,Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 0 0 0 0 0 0 1 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 1 0 0 0 0 1 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 0 0 1 1
Centre of Medical Genetics, University of Antwerp 0 0 0 1 0 0 0 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 1 0 0 0 1
Dobyns Lab,Seattle Children's Research Institute 0 2 0 1 0 0 0 1
Department of Clinical Genetics,Tartu University Hospital 0 0 0 1 0 0 0 1
Molecular Genetics Pathology Laboratory, University Of Arkansas for Medical Sciences 0 0 0 0 0 0 1 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 8 0 0 0 0 1 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 1 0 0 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 2 0 1 0 0 0 1
Prenatal Medicine Munich,Prenatal Medicine Munich 0 0 0 0 0 0 1 1
Prof. Thelma's Laboratory, Department of Genetics,University of Delhi South Campus 0 0 0 1 0 0 0 1
Center for Human Genetics,University of Leuven 0 0 0 1 0 0 0 1
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn 0 0 0 1 0 0 0 1
Laboratory of Genetics, AOUP,Azienda Ospedaliera Universitaria Pisana 0 0 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 0 0 1 1
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 0 0 0 1 0 0 0 1
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 0 1 0 1 0 0 0 1
Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 0 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 0 0 0 0 1 1
Geschwind lab,University of California Los Angeles 0 0 0 1 0 1 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 6 0 1 0 0 0 1
Department of Medical Biochemistry and Genetics,University of Turku 0 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 1 0 0 0 0 1 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 1 0 0 1 1
Human Genetics - Radboudumc,Radboudumc 0 3 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 0 1 0 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 47 0 1 0 0 0 1
Zuffardi lab,University of Pavia 0 0 0 1 0 0 0 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 1 0 0 0 1
Robarts Research Institute,Western University 0 0 0 1 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 1 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 4 0 0 0 0 1 1
Tim Yu lab,Boston Children's Hospital 0 0 0 1 0 0 0 1
Muenke lab,National Institutes of Health 0 0 0 0 0 0 1 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 17 0 1 0 0 0 1
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 0 1 0 0 0 0 1 1
Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesse 0 0 0 1 0 0 0 1
Medical Genetics Laboratory,Aldo Moro University of Bari 0 0 0 1 0 0 0 1
Herman Laboratory,Nationwide Children's Hospital 0 2 0 1 0 0 0 1
Wangler Lab,Baylor College of Medicine 0 0 0 1 0 0 0 1
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 47 0 1 0 0 0 1
Department of Pathology and Molecular Medicine,Queen's University 0 14 0 1 0 0 0 1
Department of Medical Sciences,Uppsala University 0 2 0 1 0 0 0 1
Department of Obstetrics and Gynecology,Helsinki University Hospital 0 0 0 1 0 0 0 1
Yang An-Suei Laboratory,Academia Sinica 0 0 0 1 0 0 0 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 1 0 0 0 1
Flegel Lab,National Institutes of Health 0 0 0 1 0 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory,State University of Campinas 0 0 0 1 0 0 0 1
Emory University School of Medicine, Department of Human Genetics,Emory University 0 0 0 1 0 0 0 1
Clinical genetics,CHU Grenoble-Alpes 0 0 0 1 0 0 0 1
Bodamer Research Lab,Boston Children's Hospital 0 0 0 0 0 0 1 1
Unidade de Bioquimica Genetica,Centro Hospitalar do Porto 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 79 0 1 0 0 0 1
Reproductive Development, Murdoch Childrens Research Institute 0 0 0 1 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 1 0 1 0 0 1 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 0 0 0 1 0 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 8 0 0 0 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 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
Zeviani Lab,University of Cambridge 0 0 0 1 0 0 0 1
ClinGen Hearing Loss Variant Curation Expert Panel, 0 8 0 0 0 0 1 1
Michaelson Lab,University of Iowa 0 0 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Mayo Clinic Genomics Laboratory,Mayo Clinic 0 0 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 2 0 1 0 0 0 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 1 0 0 0 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 0 0 1 0 0 0 1
Inherited Eye Disorders lab,UCL Institute of Ophthalmology 0 0 0 1 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 0 1 0 0 0 0 1 1
Medical Affairs,Enzyvant 0 0 0 0 0 0 1 1
Clinical Genetics Research Group,Karolinska Institutet 0 0 0 1 0 0 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 0 0 1 0 0 0 1
Genesis Genome Database 0 0 0 0 0 0 1 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1
Center for Computational Genomics and Data Science,University of Alabama 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 1009
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1
NC_012920.1:m.14597A>G rs797045055
NM_000016.5(ACADM):c.287-2A>G rs1057518677
NM_000016.5(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys) rs151254520
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251
NM_000026.4(ADSL):c.253C>T (p.Arg85Ter) rs1036185928
NM_000026.4(ADSL):c.403-4G>A rs373652667
NM_000030.3(AGXT):c.2T>C (p.Met1Thr) rs138584408
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) rs121908526
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928
NM_000035.4(ALDOB):c.113-1_115del rs786204598
NM_000035.4(ALDOB):c.324+2T>A rs1057516379
NM_000035.4(ALDOB):c.356_359CAAA[1] (p.Asn120fs) rs387906225
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073
NM_000049.3(ASPA):c.212G>A (p.Arg71His) rs104894553
NM_000049.3(ASPA):c.427A>T (p.Ile143Phe) rs199565861
NM_000049.3(ASPA):c.541C>A (p.Pro181Thr) rs786204572
NM_000049.3(ASPA):c.746A>T (p.Asp249Val) rs104894552
NM_000049.3(ASPA):c.770C>G (p.Pro257Arg) rs377217076
NM_000049.3(ASPA):c.854A>C (p.Glu285Ala) rs28940279
NM_000049.3(ASPA):c.859G>A (p.Ala287Thr) rs774323189
NM_000050.4(ASS1):c.970+5G>A rs372128852
NM_000051.3(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.3(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.3(ATM):c.601C>T (p.Gln201Ter) rs886039666
NM_000051.3(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.3(ATM):c.6154G>A (p.Glu2052Lys) rs202206540
NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) rs28904921
NM_000051.3(ATM):c.8266A>T (p.Lys2756Ter) rs371638537
NM_000051.3(ATM):c.900del (p.Gly301fs) rs1555067335
NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs) rs1176709391
NM_000053.4(ATP7B):c.1285+5G>T rs370579582
NM_000053.4(ATP7B):c.1708-1G>C rs137853280
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) rs193922103
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797
NM_000059.3(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.3(BRCA2):c.1011C>T (p.Asn337=) rs41293473
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.3(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.3(BRCA2):c.1275A>G (p.Glu425=) rs34355306
NM_000059.3(BRCA2):c.1362A>G (p.Lys454=) rs55919657
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) rs11571642
NM_000059.3(BRCA2):c.1818G>A (p.Pro606=) rs76844014
NM_000059.3(BRCA2):c.1911T>C (p.Gly637=) rs11571652
NM_000059.3(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.3(BRCA2):c.223G>C (p.Ala75Pro) rs28897701
NM_000059.3(BRCA2):c.231T>G (p.Thr77=) rs114446594
NM_000059.3(BRCA2):c.2738_2742ACTTG[1] (p.Thr915fs) rs786204752
NM_000059.3(BRCA2):c.2919G>A (p.Ser973=) rs45525041
NM_000059.3(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.3(BRCA2):c.3054G>A (p.Lys1018=) rs368404583
NM_000059.3(BRCA2):c.316+12A>G rs186419778
NM_000059.3(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.3(BRCA2):c.3264dupT (p.Gln1089Serfs) rs80359380
NM_000059.3(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.3(BRCA2):c.4071A>C (p.Leu1357=) rs140556653
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.4584C>T (p.Ser1528=) rs80359788
NM_000059.3(BRCA2):c.4681C>A (p.His1561Asn) rs2219594
NM_000059.3(BRCA2):c.516+14C>T rs182828913
NM_000059.3(BRCA2):c.517-19C>T rs11571623
NM_000059.3(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.3(BRCA2):c.5268A>G (p.Val1756=) rs199879914
NM_000059.3(BRCA2):c.5418A>G (p.Glu1806=) rs34351119
NM_000059.3(BRCA2):c.5611_5615AGTAA[1] (p.Lys1872fs) rs80359525
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.3(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000059.3(BRCA2):c.5985C>T (p.Asn1995=) rs374620036
NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.3(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.3(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.3(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.3(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.3(BRCA2):c.7397C>T (p.Ala2466Val) rs169547
NM_000059.3(BRCA2):c.7413A>G (p.Thr2471=) rs138067005
NM_000059.3(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.3(BRCA2):c.7626G>A (p.Thr2542=) rs61754138
NM_000059.3(BRCA2):c.8460A>C (p.Val2820=) rs9590940
NM_000059.3(BRCA2):c.8487+19A>G rs11571743
NM_000059.3(BRCA2):c.8633-16C>G rs81002818
NM_000059.3(BRCA2):c.865A>C (p.Asn289His) rs766173
NM_000059.3(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
NM_000059.3(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.3(BRCA2):c.9257-16T>C rs11571818
NM_000059.3(BRCA2):c.9270C>T (p.Phe3090=) rs587780873
NM_000059.3(BRCA2):c.9649-19G>A rs11571830
NM_000059.3(BRCA2):c.9720T>C (p.Val3240=) rs80359810
NM_000059.3(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.3(BRCA2):c.9843A>G (p.Pro3281=) rs11571832
NM_000059.3(BRCA2):c.9949C>T (p.Leu3317=) rs777488349
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491
NM_000070.3(CAPN3):c.59del (p.Pro20fs) rs1555417271
NM_000071.2(CBS):c.1039G>A (p.Gly347Ser) rs771298943
NM_000080.3(CHRNE):c.37G>A (p.Gly13Arg) rs372635387
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu) rs121909516
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr) rs201861334
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000088.3(COL1A1):c.1862_1865del (p.Pro621fs) rs72651620
NM_000089.3(COL1A2):c.1342G>C (p.Gly448Arg)
NM_000089.3(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000094.3(COL7A1):c.6091G>A (p.Gly2031Ser) rs121912838
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys) rs74315296
NM_000098.3(CPT2):c.1567_1568CA[1] (p.His523fs)
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) rs201065226
NM_000104.3(CYP1B1):c.1103G>A (p.Arg368His) rs79204362
NM_000104.3(CYP1B1):c.182G>A (p.Gly61Glu) rs28936700
NM_000110.3(DPYD):c.1679T>G (p.Ile560Ser) rs55886062
NM_000110.3(DPYD):c.1774C>T (p.Arg592Trp) rs59086055
NM_000110.3(DPYD):c.1905+1G>A rs3918290
NM_000110.3(DPYD):c.763-2A>G rs1300669537
NM_000112.3(SLC26A2):c.-26+2T>C rs386833492
NM_000112.3(SLC26A2):c.1020_1022delTGT rs121908077
NM_000112.3(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915
NM_000124.4(ERCC6):c.1518del (p.Lys506fs) rs786205168
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354
NM_000124.4(ERCC6):c.2599-26A>G rs4253196
NM_000136.3(FANCC):c.1329+1G>T rs1554829441
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.485_486GA[1] (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.485_486GA[2] (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.521+1G>A rs145394391
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947
NM_000137.3(FAH):c.1009G>A (p.Gly337Ser) rs80338900
NM_000137.3(FAH):c.1027G>T (p.Gly343Trp) rs970505762
NM_000137.3(FAH):c.1062+5G>A rs80338901
NM_000137.3(FAH):c.1069G>T (p.Glu357Ter) rs121965075
NM_000137.3(FAH):c.192+1G>T rs786204683
NM_000137.3(FAH):c.192G>T (p.Gln64His) rs80338894
NM_000137.3(FAH):c.398A>T (p.His133Leu) rs775152764
NM_000137.3(FAH):c.553+2_553+3del rs1555441272
NM_000137.3(FAH):c.554-1G>T rs80338895
NM_000137.3(FAH):c.706+2T>G rs1555441597
NM_000137.3(FAH):c.782C>T (p.Pro261Leu) rs80338898
NM_000137.3(FAH):c.81+2T>A rs772895065
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008
NM_000143.3(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000151.4(G6PC):c.113A>T (p.Asp38Val) rs104894565
NM_000151.4(G6PC):c.14T>G (p.Met5Arg) rs1250172816
NM_000151.4(G6PC):c.370G>A (p.Ala124Thr) rs104894568
NM_000151.4(G6PC):c.377_378TA[3] (p.Tyr128fs) rs80356488
NM_000151.4(G6PC):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC):c.648G>T (p.Leu216=) rs80356484
NM_000151.4(G6PC):c.724C>T (p.Gln242Ter) rs80356485
NM_000151.4(G6PC):c.809G>T (p.Gly270Val) rs80356483
NM_000151.4(G6PC):c.969C>A (p.Tyr323Ter) rs780226142
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) rs28940868
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659
NM_000153.4(GALC):c.1592G>A (p.Arg531His) rs200378205
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter) rs111033818
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.329-2A>C rs111033667
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.4(GALT):c.428C>T (p.Ser143Leu) rs111033697
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) rs111033694
NM_000155.4(GALT):c.602G>A (p.Arg201His) rs111033735
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744
NM_000155.4(GALT):c.775C>T (p.Arg259Trp) rs786204763
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766
NM_000155.4(GALT):c.947G>A (p.Trp316Ter) rs111033790
NM_000155.4(GALT):c.982C>T (p.Arg328Cys) rs144993986
NM_000155.4(GALT):c.983G>A (p.Arg328His) rs111033802
NM_000155.4(GALT):c.998G>A (p.Arg333Gln) rs111033808
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.4(GBA):c.1102C>T (p.Arg368Cys) rs374306700
NM_000157.4(GBA):c.115+1G>A rs104886460
NM_000157.4(GBA):c.1171G>C (p.Val391Leu) rs398123527
NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_000157.4(GBA):c.1246G>A (p.Gly416Ser) rs121908311
NM_000157.4(GBA):c.1297G>T (p.Val433Leu) rs80356769
NM_000157.4(GBA):c.1342G>C (p.Asp448His) rs1064651
NM_000157.4(GBA):c.1448T>G (p.Leu483Arg) rs421016
NM_000157.4(GBA):c.1504C>T (p.Arg502Cys) rs80356771
NM_000157.4(GBA):c.1505G>A (p.Arg502His) rs80356772
NM_000157.4(GBA):c.1604G>A (p.Arg535His) rs75822236
NM_000157.4(GBA):c.637C>T (p.Leu213Phe) rs374591570
NM_000157.4(GBA):c.680A>G (p.Asn227Ser) rs364897
NM_000157.4(GBA):c.703T>C (p.Ser235Pro) rs1064644
NM_000157.4(GBA):c.721G>A (p.Gly241Arg) rs409652
NM_000157.4(GBA):c.764T>A (p.Phe255Tyr) rs74500255
NM_000157.4(GBA):c.882T>G (p.His294Gln) rs367968666
NM_000157.4(GBA):c.887G>A (p.Arg296Gln) rs78973108
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys) rs781477694
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369
NM_000170.2(GLDC):c.2216G>A (p.Arg739His) rs121964980
NM_000170.2(GLDC):c.793del (p.Gln265fs) rs386833586
NM_000228.3(LAMB3):c.1486-1G>A rs1418276828
NM_000228.3(LAMB3):c.2842del (p.Val948fs) rs772421306
NM_000232.4(SGCB):c.1_2del (p.Met1fs) rs886042503
NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr) rs727504753
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys) rs727503253
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192
NM_000267.3(NF1):c.5648A>G (p.Asn1883Ser) rs864622647
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr) rs1555636659
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter) rs786204512
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys) rs28942108
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259
NM_000271.5(NPC1):c.3467A>G (p.Asn1156Ser) rs28942105
NM_000271.5(NPC1):c.410C>T (p.Thr137Met) rs372947142
NM_000271.5(NPC1):c.839del (p.Leu280fs) rs1057518711
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.1199+17G>A rs62508613
NM_000277.3(PAH):c.1199+1G>C rs62509015
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786
NM_000277.3(PAH):c.320A>G (p.His107Arg) rs542645236
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.3(PAH):c.818C>T (p.Ser273Phe) rs62514953
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851
NM_000277.3(PAH):c.912+1G>A rs62514956
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) rs776731688
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000288.4(PEX7):c.183del (p.Phe61fs) rs774131564
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151
NM_000288.4(PEX7):c.6_12TGCGGTG[3] (p.Gly7fs) rs62636519
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137
NM_000288.4(PEX7):c.903+1G>C rs148591292
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser) rs532870929
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000310.3(PPT1):c.29T>A (p.Leu10Ter) rs137852699
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000314.7(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.7(PTEN):c.517C>T (p.Arg173Cys) rs121913293
NM_000317.3(PTS):c.370G>T (p.Val124Leu) rs150726932
NM_000334.4(SCN4A):c.154C>T (p.Arg52Trp) rs201379704
NM_000334.4(SCN4A):c.3424C>T (p.Arg1142Ter) rs912001256
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) rs143473912
NM_000360.4(TH):c.1035_1045del (p.Gln346fs)
NM_000360.4(TH):c.1400A>G (p.Asp467Gly) rs771351747
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr) rs143010236
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011
NM_000380.3(XPA):c.323G>A (p.Cys108Tyr) rs104894131
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) rs72547562
NM_000384.3(APOB):c.2988_2994del (p.Gly997fs) rs1057518647
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000404.4(GLB1):c.446C>T (p.Ser149Phe) rs778700089
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096
NM_000414.4(HSD17B4):c.868+1del rs749532705
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer) rs758055753
NM_000430.4(PAFAH1B1):c.484G>A (p.Gly162Ser) rs121434487
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849
NM_000441.2(SLC26A4):c.1281_1283TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362
NM_000441.2(SLC26A4):c.2319+1G>A rs542079779
NM_000441.2(SLC26A4):c.918+2T>C rs912147281
NM_000441.2(SLC26A4):c.919-2A>G rs111033313
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.1811_1813CTT[1] (p.Ser605del) rs587781234
NM_000462.5(UBE3A):c.2133+9T>C rs79328837
NM_000462.5(UBE3A):c.2576_2577del (p.Lys859fs) rs587781231
NM_000466.3(PEX1):c.1714_1715CA[1] (p.His572fs) rs786204606
NM_000466.3(PEX1):c.1952_1960dup (p.Met654_Gln655insThrValTrp) rs398123408
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter) rs1057517481
NM_000466.3(PEX1):c.2916del (p.Gly973fs) rs61750426
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) rs61750427
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His) rs1484321655
NM_000466.3(PEX1):c.3115del (p.Thr1039fs) rs1562846257
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs) rs886043558
NM_000466.3(PEX1):c.358-1G>T rs1057517479
NM_000466.3(PEX1):c.3689_3692GTCA[1] (p.Gln1231fs) rs769836601
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458
NM_000487.6(ARSA):c.465+1G>A rs80338815
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355
NM_000489.5(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000492.3(CFTR):c.1040G>A (p.Arg347His) rs77932196
NM_000492.3(CFTR):c.1040G>T (p.Arg347Leu) rs77932196
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1055G>A (p.Arg352Gln) rs121908753
NM_000492.3(CFTR):c.1141A>T (p.Lys381Ter) rs1554381605
NM_000492.3(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.3(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.3(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.3(CFTR):c.1373del (p.Gly458fs) rs397508196
NM_000492.3(CFTR):c.1394C>A (p.Thr465Asn) rs758900656
NM_000492.3(CFTR):c.1400T>C (p.Leu467Pro) rs139573311
NM_000492.3(CFTR):c.1438G>T (p.Gly480Cys) rs79282516
NM_000492.3(CFTR):c.1475C>T (p.Ser492Phe) rs121909017
NM_000492.3(CFTR):c.14C>T (p.Pro5Leu) rs193922501
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1580A>G (p.Glu527Gly) rs374453187
NM_000492.3(CFTR):c.1624G>T (p.Gly542Ter) rs113993959
NM_000492.3(CFTR):c.1645A>C (p.Ser549Arg) rs121908757
NM_000492.3(CFTR):c.1646G>A (p.Ser549Asn) rs121908755
NM_000492.3(CFTR):c.1647T>G (p.Ser549Arg) rs121909005
NM_000492.3(CFTR):c.165-3C>T rs200337193
NM_000492.3(CFTR):c.1652G>A (p.Gly551Asp) rs75527207
NM_000492.3(CFTR):c.166G>A (p.Glu56Lys) rs397508256
NM_000492.3(CFTR):c.1682C>A (p.Ala561Glu) rs121909047
NM_000492.3(CFTR):c.1692del (p.Asp565fs) rs193922505
NM_000492.3(CFTR):c.1721C>A (p.Pro574His) rs121908758
NM_000492.3(CFTR):c.1766+5G>T rs121908796
NM_000492.3(CFTR):c.1841A>G (p.Asp614Gly) rs201124247
NM_000492.3(CFTR):c.1853T>C (p.Ile618Thr) rs139468767
NM_000492.3(CFTR):c.1865G>A (p.Gly622Asp) rs121908759
NM_000492.3(CFTR):c.200C>T (p.Pro67Leu) rs368505753
NM_000492.3(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.3(CFTR):c.2353C>T (p.Arg785Ter) rs374946172
NM_000492.3(CFTR):c.2551C>T (p.Arg851Ter) rs121909012
NM_000492.3(CFTR):c.2620-26A>G rs201716473
NM_000492.3(CFTR):c.273+3A>C rs74467662
NM_000492.3(CFTR):c.2738A>G (p.Tyr913Cys) rs121909008
NM_000492.3(CFTR):c.2739T>A (p.Tyr913Ter) rs149790377
NM_000492.3(CFTR):c.2805_2810delinsTCAGA (p.Pro936fs) rs1554391033
NM_000492.3(CFTR):c.2810dup (p.Val938fs) rs193922510
NM_000492.3(CFTR):c.2834C>T (p.Ser945Leu) rs397508442
NM_000492.3(CFTR):c.2909G>A (p.Gly970Asp) rs386134230
NM_000492.3(CFTR):c.2930C>T (p.Ser977Phe) rs141033578
NM_000492.3(CFTR):c.293A>G (p.Gln98Arg) rs397508464
NM_000492.3(CFTR):c.3047T>C (p.Phe1016Ser) rs397508488
NM_000492.3(CFTR):c.3067_3072del (p.Ile1023_Val1024del) rs121908767
NM_000492.3(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758
NM_000492.3(CFTR):c.3107C>A (p.Thr1036Asn) rs397508498
NM_000492.3(CFTR):c.3107C>T (p.Thr1036Ile) rs397508498
NM_000492.3(CFTR):c.3139+1delG rs780546355
NM_000492.3(CFTR):c.313del (p.Ile105fs) rs121908801
NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.3(CFTR):c.3181G>C (p.Gly1061Arg) rs142394380
NM_000492.3(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110
NM_000492.3(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988
NM_000492.3(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542
NM_000492.3(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772
NM_000492.3(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.3(CFTR):c.3294G>T (p.Trp1098Cys) rs397508533
NM_000492.3(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623
NM_000492.3(CFTR):c.3299A>C (p.Gln1100Pro) rs397508535
NM_000492.3(CFTR):c.3368-2A>G rs755416052
NM_000492.3(CFTR):c.3368-2A>T rs755416052
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.3(CFTR):c.3717+5G>A rs193922520
NM_000492.3(CFTR):c.3731G>A (p.Gly1244Glu) rs267606723
NM_000492.3(CFTR):c.377G>A (p.Gly126Asp) rs397508609
NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898
NM_000492.3(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.3(CFTR):c.3908A>T (p.Asn1303Ile) rs397508636
NM_000492.3(CFTR):c.4077_4080delinsAA (p.Val1360fs) rs397508668
NM_000492.3(CFTR):c.4242+1G>T rs372227120
NM_000492.3(CFTR):c.4243-2A>G rs397508705
NM_000492.3(CFTR):c.4364C>G (p.Ser1455Ter) rs121909043
NM_000492.3(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585
NM_000492.3(CFTR):c.443T>A (p.Ile148Asn) rs35516286
NM_000492.3(CFTR):c.489+3A>G rs377729736
NM_000492.3(CFTR):c.490-1G>A rs397508734
NM_000492.3(CFTR):c.532G>A (p.Gly178Arg) rs80282562
NM_000492.3(CFTR):c.571T>G (p.Phe191Val) rs141482808
NM_000492.3(CFTR):c.595C>T (p.His199Tyr) rs121908802
NM_000492.3(CFTR):c.613C>T (p.Pro205Ser) rs121908803
NM_000492.3(CFTR):c.617T>G (p.Leu206Trp) rs121908752
NM_000492.3(CFTR):c.695T>A (p.Val232Asp) rs397508783
NM_000492.3(CFTR):c.794T>G (p.Met265Arg) rs148519623
NM_000492.3(CFTR):c.825C>G (p.Tyr275Ter) rs193922532
NM_000492.3(CFTR):c.859A>T (p.Asn287Tyr) rs397508804
NM_000492.3(CFTR):c.870-1G>C rs1351058559
NM_000492.3(CFTR):c.935_937delTCT (p.Phe312del) rs121908768
NM_000492.3(CFTR):c.941G>A (p.Gly314Glu) rs75763344
NM_000492.4(CFTR):c.3319T>C (p.Phe1107Leu)
NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs) rs80356821
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486
NM_000518.5(HBB):c.*110T>C rs33978907
NM_000518.5(HBB):c.-106G>C rs63750681
NM_000518.5(HBB):c.-78A>G rs33931746
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000518.5(HBB):c.316-7C>A rs34483965
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040
NM_000518.5(HBB):c.85dup (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721
NM_000520.6(HEXA):c.806-7G>A rs770932296
NM_000526.5(KRT14):c.373C>T (p.Arg125Cys) rs60399023
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs) rs1057516864
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val) rs751538672
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp) rs202247823
NM_000540.2(RYR1):c.14126C>T (p.Thr4709Met) rs118192140
NM_000540.2(RYR1):c.6721C>T rs200563280
NM_000543.4(SMPD1):c.1426C>T rs182812968
NM_000543.5(SMPD1):c.1092-1G>C rs398123474
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys) rs372287825
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058
NM_000543.5(SMPD1):c.1139_1140TC[3] (p.Leu382fs) rs1057516432
NM_000543.5(SMPD1):c.1264-1G>T rs1057516454
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg) rs794727629
NM_000543.5(SMPD1):c.1341-1G>A rs1057516854
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) rs753508874
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser) rs144873307
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser) rs120074119
NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter) rs868423827
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn) rs749780769
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) rs1057517195
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys) rs200763423
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479
NM_000543.5(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000642.3(AGL):c.4260-12A>G rs369973784
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys) rs775685508
NM_000702.4(ATP1A2):c.2438T>A (p.Met813Lys) rs796052277
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099
NM_000784.4(CYP27A1):c.1263+1G>A rs397515355
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796
NM_000834.4(GRIN2B):c.1721_1726TCTTTG[1] (p.574_575VF[1]) rs1555111511
NM_000834.4(GRIN2B):c.2450A>G (p.Asn817Ser) rs1555103159
NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg) rs121909353
NM_001005463.3(EBF3):c.488G>A (p.Arg163Gln) rs1057519389
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) rs397516373
NM_001024688.2(NBN):c.411_415del (p.Lys137fs) rs587776650
NM_001029896.2(WDR45):c.158_160TGG[1] (p.Val54del) rs864309661
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101
NM_001040142.2(SCN2A):c.4877G>A (p.Arg1626Gln) rs796053155
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001042750.2(STAG2):c.1605T>A (p.Cys535Ter) rs1569515507
NM_001042750.2(STAG2):c.1811G>A (p.Arg604Gln) rs1569515797
NM_001042750.2(STAG2):c.476A>G (p.Tyr159Cys) rs1569511477
NM_001072.4(UGT1A6):c.862-6073T>G rs35003977
NM_001079846.1(CREBBP):c.4325A>G (p.Asp1442Gly) rs886041286
NM_001079846.1(CREBBP):c.5500A>G (p.Met1834Val) rs797045037
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) rs377025174
NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter) rs776838028
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) rs201454788
NM_001080463.1(DYNC2H1):c.[11284A>G;5971A>T]
NM_001083602.2(PTCH1):c.1018-1G>A rs1564051834
NM_001083602.2(PTCH1):c.4-1649del rs751977093
NM_001100.3(ACTA1):c.133G>T (p.Val45Phe) rs398123562
NM_001100.3(ACTA1):c.478G>A (p.Gly160Ser) rs1064794652
NM_001101.5(ACTB):c.82C>G (p.Arg28Gly) rs886041270
NM_001105.5(ACVR1):c.983G>A (p.Gly328Glu) rs387906589
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) rs797045044
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001126105.2(SLC7A7):c.1402C>T (p.Arg468Ter) rs386833807
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379
NM_001126131.2(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001127221.1(CACNA1A):c.4058C>T (p.Pro1353Leu) rs1064794808
NM_001127221.1(CACNA1A):c.4177G>A (p.Val1393Met) rs794727411
NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) rs121908247
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580
NM_001127713.1(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_001128849.2(SMARCA4):c.2704G>A (p.Val902Met)
NM_001128849.2(SMARCA4):c.3608G>A (p.Arg1203His) rs770680174
NM_001142301.1(TMEM67):c.1076G>A (p.Arg359Gln) rs386834182
NM_001145715.2(KPNA7):c.106C>T (p.Arg36Ter) rs760378316
NM_001145853.1(WFS1):c.2648_2651del (p.Phe883fs) rs797045076
NM_001160301.1(DPYD):c.187A>G (p.Lys63Glu) rs367619008
NM_001160301.1(DPYD):c.220C>T (p.Arg74Ter) rs189768576
NM_001163213.1(FGFR3):c.1124A>G (p.Tyr375Cys) rs121913485
NM_001163213.1(FGFR3):c.1144G>A (p.Gly382Arg) rs28931614
NM_001163213.1(FGFR3):c.1178C>A (p.Ala393Glu) rs28931615
NM_001163213.1(FGFR3):c.1954A>G (p.Lys652Glu) rs78311289
NM_001163213.1(FGFR3):c.2425T>G (p.Ter809Gly) rs121913101
NM_001163213.1(FGFR3):c.251C>T (p.Ser84Leu) rs121913116
NM_001163213.1(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_001163817.2(DHCR7):c.1328G>A (p.Arg443His) rs781687341
NM_001163817.2(DHCR7):c.506C>T (p.Ser169Leu) rs80338855
NM_001163817.2(DHCR7):c.725G>A (p.Arg242His) rs80338857
NM_001163817.2(DHCR7):c.89G>C (p.Gly30Ala) rs200334114
NM_001168272.1(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_001168272.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001171.5(ABCC6):c.793A>G (p.Arg265Gly) rs72657698
NM_001172477.1(RRM2B):c.878A>G (p.Asn293Ser) rs863224193
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) rs1553547838
NM_001190919.1(THRA):c.54-1G>A rs199530759
NM_001193466.2(KANSL1):c.985_986del (p.Leu329fs) rs281865473
NM_001195553.2(DCX):c.557G>A (p.Arg186His) rs587783563
NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) rs111033258
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059
NM_001243766.1(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) rs772235481
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186
NM_001267550.2(TTN):c.75134_75137AGAA[1] (p.Lys25046fs) rs794729340
NM_001269039.2(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_001278074.1(COL5A1):c.406C>T (p.Pro136Ser) rs777625241
NM_001278716.2(FBXL4):c.1067del (p.Gly356fs) rs1554219474
NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro) rs201989042
NM_001281463.1(SMC1A):c.520C>T (p.Arg174Cys) rs587784422
NM_001282534.2(KCNK9):c.392G>A (p.Arg131His) rs867543866
NM_001289910.1(IDH2):c.263G>A (p.Arg88Gln) rs121913502
NM_001291412.2(SON):c.245-4852dup rs886039778
NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter) rs1479104927
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile) rs797045013
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_001330368.2(C11orf65):c.641-34276_641-34267del rs786202800
NM_001347721.2(DYRK1A):c.1373G>A (p.Arg458Gln) rs797045041
NM_001347721.2(DYRK1A):c.707T>G (p.Leu236Arg) rs797044525
NM_001356.4(DDX3X):c.1052G>A (p.Arg351Gln) rs1057518707
NM_001360.2(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860
NM_001360.2(DHCR7):c.1066del (p.His356fs) rs774291653
NM_001360.2(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646
NM_001360.2(DHCR7):c.1210C>T (p.Arg404Cys) rs61757582
NM_001360.2(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862
NM_001360.2(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696
NM_001360.2(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864
NM_001360.2(DHCR7):c.1396G>A (p.Val466Met) rs760428437
NM_001360.2(DHCR7):c.1A>G (p.Met1Val) rs104886033
NM_001360.2(DHCR7):c.292C>T (p.Gln98Ter) rs104886039
NM_001360.2(DHCR7):c.440G>A (p.Gly147Asp) rs777425801
NM_001360.2(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.2(DHCR7):c.461C>G (p.Thr154Arg) rs143312232
NM_001360.2(DHCR7):c.461C>T (p.Thr154Met) rs143312232
NM_001360.2(DHCR7):c.470T>C (p.Leu157Pro) rs753960624
NM_001360.2(DHCR7):c.546G>A (p.Trp182Ter) rs1032242817
NM_001360.2(DHCR7):c.655T>G (p.Tyr219Asp) rs779896782
NM_001360.2(DHCR7):c.724C>T (p.Arg242Cys) rs80338856
NM_001360.2(DHCR7):c.740C>T (p.Ala247Val) rs886041354
NM_001360.2(DHCR7):c.841G>A (p.Val281Met) rs398123607
NM_001360.2(DHCR7):c.866C>T (p.Thr289Ile) rs121909765
NM_001360.2(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.2(DHCR7):c.907G>A (p.Gly303Arg) rs142808899
NM_001360.2(DHCR7):c.964-1G>C rs138659167
NM_001360.2(DHCR7):c.964-1G>T rs138659167
NM_001360.2(DHCR7):c.976G>T (p.Val326Leu) rs80338859
NM_001363.4(DKC1):c.-142C>G rs199422241
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460
NM_001851.5(COL9A1):c.876+2T>A rs149830493
NM_001854.4(COL11A1):c.2754+5G>A rs1057518666
NM_001876.4(CPT1A):c.1163+1G>A rs148059333
NM_002016.1(FLG):c.2282_2285delCAGT rs558269137
NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu) rs201358272
NM_002180.2(IGHMBP2):c.1708C>T (p.Arg570Ter) rs1000091588
NM_002225.3(IVD):c.1188delT (p.Leu397Phefs) rs786204613
NM_002225.3(IVD):c.157C>T (p.Arg53Cys) rs34695403
NM_002225.3(IVD):c.367G>A (p.Gly123Arg) rs142761835
NM_002225.3(IVD):c.507delG (p.Glu169Aspfs) rs398123684
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter) rs398123681
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys) rs773560012
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.232C>T (p.Arg78Ter) rs765815516
NM_002225.5(IVD):c.550+1G>A rs377147994
NM_002225.5(IVD):c.851G>A (p.Arg284Gln) rs373534546
NM_002225.5(IVD):c.870dup (p.Pro291fs) rs759159766
NM_002485.5(NBN):c.584+2T>C
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.2(POLG):c.2740A>C (p.Thr914Pro) rs139590686
NM_002693.2(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541
NM_002834.4(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.4(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.4(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.4(PTPN11):c.255C>T (p.His85=) rs61736914
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002880.3(RAF1):c.1755A>G (p.Val585=) rs3730296
NM_002880.3(RAF1):c.1830A>G (p.Gln610=) rs141791080
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.3(RAF1):c.782C>G (p.Pro261Arg) rs397516828
NM_002887.4(RARS1):c.1535G>A (p.Arg512Gln) rs369398935
NM_003036.4(SKI):c.103C>T (p.Pro35Ser) rs397514590
NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln) rs794726859
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) rs267607054
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met) rs72552732
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys) rs60376624
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His) rs185551386
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln) rs1057517825
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) rs772731615
NM_003392.4(WNT5A):c.206G>A (p.Cys69Tyr) rs786204837
NM_003482.3(KMT2D):c.12844C>T (p.Arg4282Ter) rs1057517992
NM_003491.4(NAA10):c.215T>C (p.Ile72Thr) rs1057519448
NM_003560.4(PLA2G6):c.1427+1G>A rs750939090
NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln) rs587784332
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe) rs113994048
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr) rs111033225
NM_004006.2(DMD):c.4233+2C>T rs147474070
NM_004092.4(ECHS1):c.410_411del (p.Tyr137fs) rs777218310
NM_004187.4(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_004281.3(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_004321.7(KIF1A):c.38G>A (p.Arg13His) rs797045050
NM_004321.7(KIF1A):c.647G>C (p.Arg216Pro) rs672601368
NM_004321.7(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_004321.7(KIF1A):c.947G>A (p.Arg316Gln) rs749718096
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr) rs796052093
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met) rs34355135
NM_004614.5(TK2):c.361C>A (p.His121Asn) rs137854429
NM_004614.5(TK2):c.547C>T (p.Arg183Trp) rs137886900
NM_004628.4(XPC):c.1872+1G>C rs1559374923
NM_004646.3(NPHS1):c.1701C>A (p.Cys567Ter) rs386833887
NM_004646.3(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482
NM_004646.3(NPHS1):c.2606_2607dup (p.Asn870fs) rs386833921
NM_004646.3(NPHS1):c.2663+2T>G rs762392183
NM_004855.5(PIGB):c.1220A>G (p.His407Arg) rs1566960044
NM_004992.3(MECP2):c.568C>T (p.Arg190Cys) rs587783137
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005188.3(CBL):c.1112A>C (p.Tyr371Ser) rs387906666
NM_005262.3(GFER):c.217del (p.Ala73fs) rs1555486560
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) rs104894230
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628
NM_005373.2(MPL):c.413del (p.Ile138fs) rs1343123940
NM_005373.2(MPL):c.79+2T>A rs146249964
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg) rs762009737
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser) rs143736974
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309
NM_005633.3(SOS1):c.195A>C (p.Arg65=) rs7609455
NM_005691.3(ABCC9):c.4572_4573insT (p.Val1525fs) rs761784169
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_005767.6(LPAR6):c.436G>A (p.Gly146Arg) rs121434308
NM_005932.4(MIPEP):c.1027A>G (p.Lys343Glu) rs1057518741
NM_005932.4(MIPEP):c.1534C>G (p.His512Asp) rs779598020
NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg) rs1057518739
NM_005932.4(MIPEP):c.212T>A (p.Leu71Gln) rs1057518740
NM_005932.4(MIPEP):c.916C>T (p.Leu306Phe) rs143912947
NM_005933.4(KMT2A):c.3464G>A (p.Cys1155Tyr) rs1057518074
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) rs104894478
NM_006009.4(TUBA1A):c.1224C>A (p.Tyr408Ter) rs753719501
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His) rs886043627
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006432.4(NPC2):c.190+5G>A rs80358268
NM_006516.3(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006516.3(SLC2A1):c.988C>T (p.Arg330Ter) rs80359826
NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu) rs148934699
NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp) rs202232792
NM_006731.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998
NM_006755.2(TALDO1):c.574C>T (p.Arg192Cys) rs751425603
NM_006766.5(KAT6A):c.3505C>T (p.Arg1169Ter) rs886042000
NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter) rs202233735
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006920.6(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_007171.3(POMT1):c.1611C>G (p.Ser537Arg) rs150367385
NM_007217.4(PDCD10):c.474+5G>A rs1553759139
NM_007294.3(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.3(BRCA1):c.1137T>G (p.Ile379Met) rs56128296
NM_007294.3(BRCA1):c.114G>A (p.Lys38=) rs1800062
NM_007294.3(BRCA1):c.1971A>G (p.Gln657=) rs28897679
NM_007294.3(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850
NM_007294.3(BRCA1):c.2232T>C (p.Ala744=) rs4986846
NM_007294.3(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.3(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.3(BRCA1):c.2773A>C (p.Ile925Leu) rs4986847
NM_007294.3(BRCA1):c.2814A>G (p.Pro938=) rs80356851
NM_007294.3(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941
NM_007294.3(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.3(BRCA1):c.3226_3227AG[1] (p.Gly1077fs) rs80357635
NM_007294.3(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.3(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.3(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.3(BRCA1):c.4987-20A>G rs80358035
NM_007294.3(BRCA1):c.4992C>T (p.Leu1664=) rs142459158
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.3(BRCA1):c.5278-14C>G rs80358105
NM_007294.3(BRCA1):c.5406+8T>C rs55946644
NM_007294.3(BRCA1):c.5468-10C>A rs8176316
NM_007294.3(BRCA1):c.66_67AG[1] (p.Glu23fs) rs80357914
NM_007294.3(BRCA1):c.765G>A (p.Glu255=) rs62625299
NM_007294.3(BRCA1):c.807G>A (p.Leu269=) rs149867679
NM_007294.3(BRCA1):c.81-13C>G rs56328013
NM_007294.3(BRCA1):c.828A>G (p.Thr276=) rs186274774
NM_007297.4(BRCA1):c.-8+8224C>T rs80358006
NM_007299.4(BRCA1):c.1048+17A>G rs80358180
NM_007299.4(BRCA1):c.21C>T (p.Arg7=) rs149402012
NM_007299.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_007299.4(BRCA1):c.75C>T (p.Pro25=) rs80356839
NM_007299.4(BRCA1):c.787+1322A>G rs4986844
NM_007299.4(BRCA1):c.787+1809C>T rs41286300
NM_007299.4(BRCA1):c.804G>A (p.Gly268=) rs147448807
NM_007299.4(BRCA1):c.999T>C (p.Ser333=) rs1060915
NM_007300.4(BRCA1):c.2082C>T (p.Ser694=) rs1799949
NM_007300.4(BRCA1):c.2311T>C (p.Leu771=) rs16940
NM_007300.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892
NM_007300.4(BRCA1):c.4875A>G (p.Gln1625=) rs28897693
NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg) rs797045047
NM_007327.4(GRIN1):c.2479G>A (p.Gly827Arg) rs1451230055
NM_012062.5(DNM1L):c.1048G>A (p.Gly350Arg) rs879255689
NM_012062.5(DNM1L):c.2072A>G (p.Tyr691Cys) rs1565548029
NM_012200.4(B3GAT3):c.830G>A (p.Arg277Gln) rs387906937
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys) rs587777167
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs) rs386833988
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) rs727504156
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del) rs386833994
NM_013275.6(ANKRD11):c.1898_1902AAACA[1] (p.Lys635fs) rs886041125
NM_014171.6(CRIPT):c.8G>A (p.Cys3Tyr) rs757078301
NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs) rs80338725
NM_014251.3(SLC25A13):c.1799dup (p.Tyr600Ter) rs80338726
NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter) rs80338719
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) rs80338720
NM_014252.4(SLC25A15):c.553_555TTC[3] (p.Phe188del) rs202247803
NM_014252.4(SLC25A15):c.815C>T (p.Thr272Ile) rs121908535
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014946.3(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_015166.3(MLC1):c.65G>A (p.Arg22Gln) rs184241759
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) rs121918240
NM_015506.3(MMACHC):c.382_384TAC[2] (p.Tyr130del) rs796051998
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) rs140522266
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp) rs1553162910
NM_015506.3(MMACHC):c.497dup (p.Pro167fs) rs1481893137
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro) rs371753672
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter) rs771673343
NM_015697.8(COQ2):c.590G>A (p.Arg197His) rs121918231
NM_015895.5(GMNN):c.50A>G (p.Lys17Arg) rs864309488
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn) rs200322968
NM_016023.5(OTUD6B):c.557A>G (p.Tyr186Cys) rs1064797103
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948
NM_016302.3(CRBN):c.1171T>C (p.Cys391Arg) rs797045036
NM_016373.4(WWOX):c.605+5G>A rs1039151413
NM_017534.6(MYH2):c.1160C>T (p.Ala387Val) rs527337606
NM_017739.3(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017890.4(VPS13B):c.6732+1G>A rs180177366
NM_017890.4(VPS13B):c.6802G>T (p.Glu2268Ter) rs146960401
NM_017909.3(RMND1):c.713A>G rs144972972
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter) rs149998588
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086
NM_018196.4(TMLHE):c.959_960AT[1] (p.Ile321fs) rs782624357
NM_018941.3(CLN8):c.209G>A (p.Arg70His) rs386834124
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp) rs121908321
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys) rs772887102
NM_020320.5(RARS2):c.472_474del (p.Lys158del) rs757743894
NM_020458.4(TTC7A):c.211G>A (p.Glu71Lys) rs147914967
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr) rs121908372
NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro) rs767122713
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter) rs121908371
NM_020533.3(MCOLN1):c.984+1G>A rs767950930
NM_020639.3(RIPK4):c.488G>A (p.Gly163Asp) rs764278537
NM_020778.4(ALPK3):c.3781C>T (p.Arg1261Ter) rs749465164
NM_020779.4(WDR35):c.3058C>T (p.His1020Tyr) rs1553316264
NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys) rs541910371
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp) rs752514808
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His) rs397515404
NM_020988.3(GNAO1):c.692A>G (p.Tyr231Cys) rs1057518678
NM_021008.3(DEAF1):c.634G>A (p.Gly212Ser) rs1057519565
NM_021008.3(DEAF1):c.676C>T (p.Arg226Trp) rs587777623
NM_021008.3(DEAF1):c.791A>C (p.Gln264Pro) rs587777407
NM_022041.3(GAN):c.1268T>C (p.Ile423Thr) rs119485091
NM_022089.4(ATP13A2):c.348-9_351del rs749798211
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_022726.4(ELOVL4):c.215del (p.Pro72fs) rs746047636
NM_022970.3(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_023110.2(FGFR1):c.1880G>C (p.Arg627Thr) rs869025671
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg) rs761389904
NM_024312.5(GNPTAB):c.3335+6T>G rs34788341
NM_024312.5(GNPTAB):c.3501_3502TC[1] (p.Leu1168fs) rs34002892
NM_024339.5(THOC6):c.298T>A (p.Trp100Arg) rs138632121
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu) rs199795381
NM_024339.5(THOC6):c.700G>C (p.Val234Leu) rs150940923
NM_024339.5(THOC6):c.824G>A (p.Gly275Asp) rs200426926
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) rs398124401
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter) rs1565809409
NM_024757.5(EHMT1):c.871C>T (p.Arg291Ter) rs137852714
NM_024989.4(PGAP1):c.2357_2358insTA (p.Arg786fs) rs767774867
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363
NM_025132.4(WDR19):c.781dup (p.Thr261fs) rs748656635
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter) rs118203963
NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro) rs201430951
NM_030632.3(ASXL3):c.3349C>T (p.Arg1117Ter) rs868044680
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter) rs1555744282
NM_030662.3(MAP2K2):c.395G>A (p.Gly132Asp) rs387906800
NM_032195.2(SON):c.6233del (p.Pro2078fs) rs886039779
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) rs139287784
NM_032682.5(FOXP1):c.1574G>A (p.Arg525Gln) rs1553663084
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236
NM_032957.4(RTEL1):c.3028C>T rs373740199
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) rs146571352
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg) rs374698153
NM_033360.4(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_033360.4(KRAS):c.13A>G (p.Lys5Glu) rs193929331
NM_033360.4(KRAS):c.194G>T (p.Ser65Ile) rs1555194026
NM_033517.1(SHANK3):c.2265+1G>A rs1396379503
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp) rs1060505041
NM_052995.2(CLRN1):c.140C>A (p.Ala47Asp) rs374963432
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter) rs786204537
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter) rs756859126
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641
NM_054012.4(ASS1):c.174+1G>T rs748264993
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys) rs121908644
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser) rs121908636
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) rs121908646
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn) rs121908638
NM_054012.4(ASS1):c.539G>T (p.Ser180Ile) rs121908638
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu) rs121908643
NM_054012.4(ASS1):c.571G>A (p.Glu191Lys) rs777828000
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu) rs376371866
NM_054012.4(ASS1):c.773+1G>A rs982830431
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388
NM_054012.4(ASS1):c.805G>A (p.Val269Met) rs370595480
NM_054012.4(ASS1):c.814C>T (p.Arg272Cys) rs762387914
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter) rs121908645
NM_054012.4(ASS1):c.892del (p.Glu298fs) rs770362721
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys) rs183276875
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg) rs199751308
NM_054012.4(ASS1):c.931C>T (p.Gln311Ter) rs1301613270
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639
NM_058216.3(RAD51C):c.571+5G>A rs145779113
NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln) rs779834376
NM_078480.3(PUF60):c.1381-2A>G rs1057518681
NM_130838.3(UBE3A):c.1004G>C (p.Ser335Thr) rs141984760
NM_130838.3(UBE3A):c.1119T>C (p.Asp373=) rs143000400
NM_130838.3(UBE3A):c.1344A>G (p.Thr448=) rs150331504
NM_130838.3(UBE3A):c.1633G>A (p.Gly545Arg) rs587781233
NM_130838.3(UBE3A):c.2284G>A (p.Val762Ile) rs587782910
NM_130838.3(UBE3A):c.2355T>C (p.Phe785=) rs587780991
NM_130838.3(UBE3A):c.2480C>T (p.Pro827Leu) rs587781239
NM_130838.3(UBE3A):c.2T>C (p.Met1Thr) rs587780577
NM_130838.3(UBE3A):c.313T>C (p.Leu105=) rs61734190
NM_130838.3(UBE3A):c.317C>A (p.Thr106Lys) rs587781241
NM_130838.3(UBE3A):c.349T>C (p.Cys117Arg) rs587782907
NM_130838.3(UBE3A):c.417A>T (p.Ala139=) rs28528079
NM_130838.3(UBE3A):c.558A>T (p.Ala186=) rs143484751
NM_133259.4(LRPPRC):c.4128del (p.Glu1377fs) rs759052246
NM_133378.4(TTN):c.10361-1G>A rs869312099
NM_138295.4(PKD1L1):c.5072G>C (p.Cys1691Ser) rs886037834
NM_138387.3(G6PC3):c.778G>C (p.Gly260Arg) rs200478425
NM_138425.4(C12orf57):c.1A>G (p.Met1Val) rs587776954
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) rs760426769
NM_138694.4(PKHD1):c.11776del (p.Val3926fs) rs1057517324
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508
NM_138694.4(PKHD1):c.1233+1G>A rs886061623
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala) rs750730042
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter) rs786204749
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) rs754392766
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) rs137852949
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter) rs749293235
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter) rs727504089
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile) rs747895516
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584
NM_138694.4(PKHD1):c.6809-2A>T
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr) rs398124492
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)
NM_138694.4(PKHD1):c.930del (p.Thr311fs) rs398124501
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) rs786204688
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) rs797045101
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter) rs398124503
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln) rs770494581
NM_138927.3(SON):c.286C>T (p.Gln96Ter) rs886039777
NM_138927.3(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517
NM_144612.6(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496
NM_144612.6(LOXHD1):c.442A>T (p.Lys148Ter) rs886044666
NM_145239.3(PRRT2):c.649dup (p.Arg217fs) rs587778771
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105
NM_152269.5(C12orf65):c.248del (p.Val83fs) rs587776508
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) rs80356537
NM_152906.7(TANGO2):c.605+1G>A rs372949028
NM_153676.4(USH1C):c.2014-1G>A rs150567427
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp) rs1317951509
NM_170707.4(LMNA):c.1391T>A (p.Met464Lys) rs1281896947
NM_172107.3(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser) rs1057516099
NM_173630.4(RTTN):c.6445G>A (p.Ala2149Thr) rs34989098
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg) rs758131044
NM_173660.5(DOK7):c.513C>T (p.Gly171=) rs775583136
NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter) rs137852863
NM_177550.4(SLC13A5):c.1475T>C (p.Leu492Pro) rs1057519449
NM_177550.4(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569
NM_177924.5(ASAH1):c.536C>T (p.Thr179Ile) rs766257867
NM_177939.3(P4HTM):c.286dup (p.Gln96fs)
NM_177939.3(P4HTM):c.482A>C (p.His161Pro)
NM_182641.4(BPTF):c.2366del (p.Asn789fs) rs1555639076
NM_182641.4(BPTF):c.8609T>G (p.Met2870Arg) rs782736894
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933
NM_183357.2(ADCY5):c.1252C>T (p.Arg418Trp) rs864309483
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser) rs730882246
NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe) rs387906989
NM_198903.2(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser) rs1057519455
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.3(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.3(USH2A):c.15178T>C (p.Ser5060Pro) rs752377040
NM_206933.3(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.3(USH2A):c.8254G>A (p.Gly2752Arg)
NM_206965.2(FTCD):c.1358C>T (p.Thr453Met) rs200283734
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535
Single allele

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